Campbell S Physical Therapy For Children Expert Consult E Book 978 0323390187 PDF

Campbell’s Physical Therapy for Children FIFTH EDITION

Robert J. Palisano, PT, ScD, FAPTA Distinguished Professor, Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, Pennsylvania Scientist, CanChild Centre for Childhood Disability Research, McMaster University, Hamilton, Ontario, Canada

Margo N. Orlin, PT, PhD, FAPTA Associate Professor, Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, Pennsylvania

Joseph Schreiber, PT, PhD 2

Professor and Program Director, Physical Therapy Program, Chatham University, Pittsburgh, Pennsylvania

Table of Contents Cover image Title page Copyright Dedication Preface Acknowledgments Contributors

Section 1. Understanding Motor Performance in Children 1. Evidence-Based Decision Making in Pediatric Physical Therapy International Classification of Functioning, Disability and Health

Apta Guide to Physical Therapist Practice 3.0 Evidence-Based Practice Appraisal of Research from Individual Studies Grades of Recommendations Knowledge Translation Evidence-Informed Clinical Decision Making Summary

2. Measurement Introduction Measurement Principles Analysis and Interpretation Evaluating change Selection Reporting and Sharing Results Case Illustrations of Analysis and Interpretation of Examination Data

3. Motor Development and Control Theoretical Background: Perspectives Leading to Understanding the Basics of How and Why Motor Skills Change Over Time Current Framework for Developmental Intervention Variables of Motor Control that Influence Development Details of Development: When and What Skills are Acquired Examples of Multifactorial Nature of Motor Development: Pulling it All Together Summary

4. Motor Learning: Application of Principles to Pediatric Rehabilitation Motor Learning Principles Motor Learning in Typically Developing Children Motor Learning in Pediatric Rehabilitation Task-Oriented Training Two More Limbs Salience of Motor Activities Considerations Summary

5. Musculoskeletal Development and Adaptation Muscle Histology and Development Force and Length Adaptations in the Muscle-Tendon Unit Summary

6. Physical Fitness During Childhood and Adolescence Health, Physical Activity, and Physical Fitness Components of Physical Fitness Conditioning and Training Summary

Section 2. Management of Musculoskeletal Conditions

7. Juvenile Idiopathic Arthritis Role of the Therapist Background Information Prognosis Body Function and Structure Activity and Participation Restrictions Foreground Information Physical Therapy Intervention Orthopedic Surgery and the Role of the Physical Therapist Summary

8. Spinal Conditions Background Information Scoliosis Foreground Information Background Information Kyphosis Lordosis Summary

9. Congenital Muscular Torticollis Background Information Foreground Information Summary

10. Arthrogryposis Multiplex Congenita Background Information Progress in Primary Prevention Diagnosis Clinical Manifestations Medical Management Foreground Information Physical Therapy in Infancy Physical Therapy in the Preschool Period Physical Therapy During the School-Age and Adolescent Periods Transition to Adulthood Summary

11. Osteogenesis Imperfecta Background Information Pathophysiology Medical Management Impairment Foreground Information

12. Muscular Dystrophies and Spinal Muscular Atrophy Role of the Physical Therapist Physical Therapy Examination and Evaluation Diseases of the Muscle Background Information

Summary

13. Limb Deficiencies and Amputations Background information Acquired Amputations Surgical Options in the Management of Acquired and Congenital Limb Deficiencies Overview of Prosthetics Foreground information

14. Orthopedic Conditions Torsional Conditions (In-Toeing and Out-Toeing) Angular Conditions Flat foot Clubfoot Blount’s Disease/Tibia Vara Developmental Dysplasia of the Hip Causes of Limping in Children Hemangioma/Vascular Malformation Miscellaneous Conditions Leg Length Inequality Summary Recommended Measures for Children receiving Orthopedic Evaluation

15. Sports Injuries in Children Background Information

Prevention of Injuries Risk Factors for Injury Types of Injuries Sites of Injury Foreground Information The Young Athlete with A Physical Disability Summary

16. Pediatric Oncology Introduction Background Information Medical Management of Pediatric Cancers Foreground Information Physical Therapy Intervention Summary

Section 3. Management of Neurologic Conditions 17. Developmental Coordination Disorder Background Information Background Information Diagnosis Co-Occurring Conditions Long-Term Prognosis Describing Children with DCD

Foreground Information Facilitating a Diagnosis of Dcd Referral to other Disciplines Intervention Transition to Adulthood and Lifelong Management of Dcd Summary

18. Children with Motor and Intellectual Disabilities Background Information Incidence and Prevalence of Intellectual Disabilities Etiology and Pathophysiology of Intellectual Disabilities Primary Impairment Foreground Information Intervention Transition to Adulthood Summary

19. Cerebral Palsy Background Information Etiology Progress in Prevention Diagnosis Classification of Functional Abilities Characteristics of the Movement Disorders in Cerebral Palsy Research Evidence for Interventions

Foreground Information Prognosis for Gross Motor Function Intervention Infancy Preschool Period School-Age and Adolescent Period Transition to Adulthood Global Issues Professional Issues Summary

20. Brachial Plexus Injury Background Information Pathophysiology Natural History and Prognosis Changes in Body Structure and Function Activity and Participation Limitations Foreground Information Surgical Management Rehabilitation Goals Therapeutic Procedural Interventions and Family Education Outcomes Prevention Summary

21. Spinal Cord Injury Background Information Prevention Advances in Recovery Pathophysiology Medical Diagnosis, Acute Management, and Stabilization Medical Complications, Long-Term Medical Management, and Prevention of Secondary Impairments Foreground Information Physical Therapy Intervention Psychosocial Aspects Quality of Life Follow-Up and Transition to Adulthood Summary

22. Acquired Brain Injuries: Trauma, Near-Drowning, and Tumors Background Information Near-Drowning Brain Tumors Acquired Brain Injury: Diagnostic Techniques Foreground Information Back at Home Assistive Devices

23. Myelodysplasia

Background Information Pathoembryology Etiology Incidence and Prevalence Perinatal Management Impairments Foreground Information Outcomes and Their Determinants Examination, Evaluation, and Direct Interventions for Musculoskeletal Issues, Mobility, and Functional Skills Summary

24. Children With Autism Spectrum Disorder Introduction Background Information Diagnostic Criteria Across Autism Spectrum Disorder General/Medical Diagnostic Process Foreground Information Physical Therapy Intervention Summary

Section 4. Management of Cardiopulmonary Conditions 25. Children Requiring Long-Term Mechanical Ventilation

Incidence Chronic Respiratory Failure Mechanical Ventilation Continuum of Care Physical Therapist Management Summary

26. Cystic Fibrosis Background Information Pathophysiology Etiology Diagnosis Medical Management Lung Transplantation Foreground Information Summary

27. Asthma: Multisystem Implications Background Information Pathophysiology Primary Impairment Secondary Impairments Foreground Information Summary

28. Congenital Heart Conditions Background Information Acyanotic Defects Cyanotic Defects Heart Failure Foreground Information Management of Children with Chronic Activity Limitations Summary

Section 5. Special Settings and Special Considerations 29. The Neonatal Intensive Care Unit Background Information Role of the Physical Therapist in the Nicu Theoretical Frameworks Guiding Practice in the Nicu Medical Complications of Infants Admitted to the Nicu Foreground Information Tests and Measures Physical Therapist Intervention Resources and Professional Development

30. Infants, Toddlers, and Their Families: Early Intervention Services Under IDEA Background Information

Idea Part C: Infants and Toddlers Family-centered Care Effectiveness of Early Intervention Foreground Information Program Evaluation Professional Development Summary

31. The Educational Environment Background Information Federal Legislation and Litigation PL 94-142: Education for all Handicapped Children Act PL 99-457: Education of the Handicapped Act Amendments of 1986; PL 102-119: Individuals with Disabilities Education act Amendments of 1991; PL 105-17: Individuals with Disabilities Education Act Amendments of 1997; PL 108-446: Individuals with Disabilities Education Improvement Act of 2004 Section 504 of the Rehabilitation Act PL 101-336: Americans with Disabilities Act Elementary and Secondary Education Act Case Law Educational Milieu Program Development Intervention Transition Planning Management of Physical Therapy Services

Issues in School-Based Practice Summary

32. Transition to Adulthood for Youth With Disabilities Background Information Transition Models and Approaches Transition Planning in the Education System Community- and Hospital-Based Transition Programs Foreground Information Adults with Childhood-Onset Disabilities Professional Resources for Physical Therapists Summary

33. Assistive Technology Assistive Technology Team International Classification of Functioning, Disability and Health Framework for Decision Making Life Span Technology Selection Process Seating Systems Wheeled Mobility Examination and Evaluation for other Assistive Technology Switches, Controls, and Access Sites Augmentative and Alternative Communication Computer Technology

Electronic Aids to Daily Living Effects of Managed Care on Acquisition of Assistive Technology Summary

34. Development and Analysis of Gait Development of Gait Components of Gait and Gait Analysis Kinematics, Kinetics, and Electromyography in Normal Gait Use of Gait Analysis in Assessing Impairments Summary

Index

Copyright 3251 Riverport Lane St. Louis, Missouri 63043 CAMPBELL’S PHYSICAL THERAPY FOR CHILDREN, FIFTH EDITION ISBN: 978-0-323-39018-7 Copyright © 2017, Elsevier Inc. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher. Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein).

Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical

treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. International Standard Book Number: 978-0-323-39018-7 Executive Content Strategist: Kathy Falk Content Development Manager: Jolynn Gower Senior Content Development Specialist: Courtney Sprehe Publishing Services Manager: Julie Eddy Senior Project Manager: Richard Barber Design Direction: Patrick Ferguson Printed in Canada Last digit is the print number: 9 8 7 6 5 4 3 2 1

Dedication To Suzann K. Campbell and the 126 contributors who have been instrumental to the success of the five editions of Physical Therapy for Children

Preface What makes an outstanding textbook on pediatric physical therapy? First and foremost is the emphasis on clinical reasoning, decision making, family-centered services, and application of knowledge and research to practice. Pediatric physical therapists make numerous clinical decisions, including eligibility and need for services, goals and outcomes, prognosis, intensity of services, and intervention plans. The reasoning and evidence for clinical decisions are emphasized throughout Campbell’s Physical Therapy for Children. Chapter 1 presents frameworks to guide clinical reasoning and decision making, such as the International Classification of Functioning, Disability and Health (ICF) and the Guide to Physical Therapist Practice, strategies for finding evidence, and criteria for appraisal of evidence. Terms used throughout the book such as Background and Foreground information are defined. The editors believe that the priorities, concerns, and aspirations of children and families are integral to pediatric physical therapy practice. Accordingly, the chapters not only address direct interventions, but also child and family goals and information needs; communication and coordination of services as members of healthcare and education teams; and consultation to community agencies, instructors, and coaches. Families of children with disabilities have expressed the importance of planning for the future. To address this priority, key considerations for physical therapy management are presented for infants, children, and adolescents, including the transition to adulthood. The ability to effectively apply knowledge and research to

practice is a characteristic of expert practitioners. Since the publication of the first edition, research pertinent to pediatric physical therapy has dramatically increased. The authors of each chapter have effectively appraised this aspect of pediatric physical therapy, including emerging technologies. Chapters in Sections 2 to 4 feature case scenarios and videos that illustrate application of knowledge and research to practice. Additionally, the cases demonstrate how child and family strengths and preferences, environmental context, and therapist practice knowledge all inform clinical reasoning and the decision making process. These cases and videos are found on the Expert Consult site that accompanies this text (discussed below). Several new and extensively revised chapters are included in this edition. Chapters have been added on children with autism (Chapter 24), children with cancer (Chapter 16), and measurement (Chapter 2). Content on concussion has been expanded and includes a new case scenario on post-concussion rehabilitation (Chapter 15). Chapter 3, Motor Development and Control, integrates content from two previously separate chapters and expands application to practice. The 45 case scenarios and 80 videos on Elsevier’s Expert Consult platform are distinctive features of this fifth edition. The cases actively engage readers in clinical reasoning and decision making. The phrase Pause and Reflect followed by a question is inserted several times within a case to encourage readers to stop and reflect on what they would do before continuing to read the case. The phrase Evidence to Practice is followed by the rationale and evidence for a decision. We are pleased to provide readers access to videos that illustrate children in their daily lives, examination procedures, and physical therapy interventions. Many of the case scenarios include an accompanying video. Additionally, there are videos on motor development, development of gait, tests and measures, practice in special settings, and transition to adulthood. An introduction to the case scenarios and videos is provided at the end of each chapter. A table of contents for the case scenarios and videos for each chapter is provided for easy reference. We strongly encourage readers to

take advantage of these outstanding resources on the Expert Consult website, a user-friendly platform for easy access. Edition 5 retains the five sections included in previous editions. Section 1, Understanding Motor Performance in Children, provides foundation knowledge for pediatric physical therapy practice, including evidence-based decision making, measurement, motor development and control, motor learning, musculoskeletal development and adaptation, and physical fitness. Sections 2 to 4 contain 22 chapters on the management of children with musculoskeletal, neuromuscular, and cardiopulmonary conditions. Chapters are organized by two main headings: Background Information (knowledge of the health condition, medical, and pharmacologic management) and Foreground Information (evidencebased recommendations for physical therapy management). Text boxes and tables are used to summarize recommendations for tests and measures and evidence for interventions. Section 5, Special Settings and Special Considerations, includes chapters on the neonatal intensive care unit, early intervention, the educational environment, transition to adulthood, and assistive technology. Throughout the book, chapters are cross-referenced to integrate content. Robert J. Palisano,

Senior Editor, Drexel University, Philadelphia, Pennsylvania

Acknowledgments The fifth edition of Campbell’s Physical Therapy for Children is dedicated to Suzann K. Campbell and the 126 contributors to one or more editions. Adding Sue’s name to the title acknowledges her vision for a comprehensive, evidence-based textbook on pediatric physical therapy and having guided Physical Therapy for Children from inception through edition 4. Sue’s fingerprints grace the pages of edition 5. Hard to believe (especially for contributors to all five editions) that more than 20 years have passed since publication of the first edition. The key to success has been the expertise of the contributors, including the 73 contributors to edition 5. The contributors are an eclectic mix of pediatric clinical specialists, educators, and clinical researchers. They are distinguished not only by their expertise and leadership but also their commitment to excellence. Contributors have graciously devoted countless hours to their chapters to ensure content is of the highest quality. Collectively, they have made possible a high-quality textbook that spans the breadth and depth of pediatric physical therapy. Their contributions have enriched the education and professional development of countless students and pediatric physical therapists worldwide. I am extremely grateful to Margo Orlin and Joe Schreiber (coeditors) for their collaboration and innovation in planning and editing the fifth edition. A comprehensive, 34-chapter textbook with extensive resources is a major undertaking—definitely a threeperson effort! The editors are appreciative of the support provided by Kathy Falk, Courtney Sprehe, Rich Barber, and the rest of the Elsevier production team. Kathy and Courtney were receptive to

the changes we proposed for the fifth edition and made them a reality. Robert J. Palisano,

Senior Editor, Drexel University, Philadelphia, Pennsylvania

Contributors Jennifer L. Agnew, BHK, BScPT, Physiotherapist, Respiratory Medicine Division, Hospital for Sick Children, Lecturer, Physical Therapy, University of Toronto, Toronto, Ontario, Canada Yvette Blanchard, PT, ScD, PCS, Professor, Physical Therapy, Sacred Heart University, Fairfield, Connecticut Brenda Sposato Bonfiglio, MEBME, ATP, Clinical Assistant Professor, Disability and Human Development, University of Illinois at Chicago, Chicago, Illinois Suzann K. Campbell, PT, PhD, FAPTA, Professor Emerita, Physical Therapy, University of Illinois at Chicago, Managing Partner, Infant Motor Performance Scales, LLC, Chicago, Illinois Tricia Catalino, PT, DSc, PCS, Assistant Professor, School of Physical Therapy, Touro University Nevada, Henderson, Nevada Lisa Chiarello, PT, PhD, PCS, FAPTA, Professor, Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, Pennsylvania Nancy Cicirello, PT, MPH, EdD, Professor Emerita, School of Physical Therapy, Pacific University, Hillsboro, Oregon Colleen Coulter, PT, DPT, PhD, MS, PCS, PT IV, Orthotics and Prosthetics, Children’s Healthcare of Atlanta, Adjunct Assistant Professor of Rehabilitation Medicine, Division of Physical Therapy,

Emory University, Atlanta, Georgia Robin Lee Dole, PT, DPT, EdD, PCS Professor of Physical Therapy and Director, Institute for Physical Therapy Education, Widener University, Associate Dean, School of Human Service Professions, Widener University, Chester, Pennsylvania President, Physical Therapy Consultation and Services, Mount Royal, Pennsylvania Maureen Donohoe, PT, DPT, PCS, Physical Therapy Clinical Specialist, Therapeutic Services, Nemours/ Alfred I. duPont Hospital for Children, Wilmington, Delaware Antonette Doty, PT, PhD, PCS School-Based Physical Therapist, Portage County Educational Service Center, Ravenna, Ohio Adjunct Faculty, Physical Therapy, Walsh University, North Canton, Ohio Susan V. Duff, PT, EdD, OTR/L, CHT Adjunct Associate Professor, Physical Therapy, Thomas Jefferson University, Philadelphia, Pennsylvania Associate Professor, Physical Therapy, Chapman University, Irvine, California Helene M. Dumas, PT, MS, Manager, Research Center, Franciscan Hospital for Children, Boston, Massachusetts Stacey Dusing, PhD, PT, PCS, Associate Professor, Physical Therapy, Virginia Commonwealth University, Director, Motor Development Lab, Virginia Commonwealth University, Associate Professor, Pediatrics, Children’s Hospital of Richmond at VCU, Richmond, Virginia Susan Effgen, PT, PhD, FAPTA, Professor, Rehabilitation Sciences, University of Kentucky, Lexington, Kentucky Heidi Friedman, PT, DPT, PCS Senior Physical Therapist, Rehabilitation, Ann and Robert H. Lurie

Children’s Hospital of Chicago, Chicago, Illinois Physical Therapist, Outpatient Rehabilitation, Joe DiMaggio Children’s Hospital, Hollywood, Florida Brian Giavedoni, BSc, MBA, CP, LP, Senior Prosthetist, Assistant Manager, Limb Deficiency Program, Orthotics & Prosthetics, Children’s Healthcare of Atlanta, Atlanta, Georgia Allan M. Glanzman, PT, DPT, PCS, Clinical Specialist PT IV, Department of Physical Therapy, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania Andrew M. Gordon, BA, MS, PhD, Professor of Movement Sciences, Movement Science Program Coordinator, Teachers College, Columbia University, New York, New York Suzanne Green, BS, Senior Physical Therapist, Rehabilitation, Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, Illinois Regina T. Harbourne, PhD, PT, Assistant Professor, Physical Therapy, Rangos School of Health Sciences, Duquesne University, Pittsburgh, Pennsylvania Krystal Hay, PT, DPT, Physical Therapist, Clinical Therapies, Nationwide Children’s Hospital, Pediatric Physical Therapy Resident, Nisonger Center, Columbus, Ohio Paul J.M. Helders Sr. MSc, PhD, Professor Emeritus, Clinical Health Sciences, Utrecht University, Former Director and Medical Physiologist, Child Development and Exercise Center, University Medical Center and Children’s Hospital, Utrecht, the Netherlands Kathleen Hinderer, PhD, MS, MPT, PT, Michigan Abilities Center, Physical Therapy, Hippotherapy, Ann Arbor, Michigan Steven Hinderer, PT, MD, Associate Professor and Residency Program Director, Department of Physical Medicine and Rehabilitation - Oakwood, Wayne State University School of Medicine, Dearborn, Michigan

Jamie M. Holloway, PT, DPT, PCS, Pre-Doctoral Research Fellow, Departments of Physical & Occupational Therapy, University of Alabama at Birmingham, Birmingham, Alabama Betsy Howell, PT, MS, Physical Therapist, Physical Medicine and Rehabilitation, University of Michigan Medical Center, Ann Arbor, Michigan Mary Wills Jesse, PT, DHS, OCS, Clinical Specialist, Rehabilitation, Decatur Memorial Hospital, Decatur, Illinois Therese Johnston, PT, PhD, MBA, Associate Professor, Physical Therapy, Thomas Jefferson University, Philadelphia, Pennsylvania Maria Jones, PhD, PT, Associate Professor, Rehabilitation Sciences, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma Marcia K. Kaminker, PT, DPT, MS, PCS, Physical Therapist, Department of Student Services, South Brunswick School District, South Brunswick, New Jersey Sandra L. Kaplan, PT, DPT, PhD, Professor and Director of PostProfessional Education, Department of Rehabilitation and Movement Sciences, Programs in Physical Therapy, Rutgers, The State University of New Jersey, Newark, New Jersey Michal Katz-Leurer, PhD, Faculty of Medicine, Department of Physical Therapy, Tel Aviv University, Ramat Aviv, Israel M. Kathleen Kelly, PhD, PT, Associate Professor and Vice Chair, Department of Physical Therapy, University of Pittsburgh, Pittsburgh, Pennsylvania Christin Krey, PT, MPT, Physical Therapist, Department of Rehabilitation, Shriners Hospital for Children, Philadelphia, Pennsylvania Amanda Kusler, BS, DPT, Physical Therapy, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

Toby Long, PhD, Professor, Pediatrics, Associate Director, Center for Child and Human Development, Georgetown University, Washington, D.C. Linda Pax Lowes, PT, PhD, Center for Gene Therapy, Nationwide Children’s Hospital, Columbus, Ohio Kathryn Lucas, PT, DPT, SCS, CSCS, Physical Therapist II, Occupational Therapy and Physical Therapy, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio Richard Magill, PhD, EdM, BS, Visiting Professor, Biobehavioral Sciences, Teachers College, Columbia University, Adjunct Professor, Physical Therapy, New York University, New York, New York Victoria Marchese, PT, PhD, Associate Professor, Physical Therapy and Rehabilitation Science, University of Maryland, School of Medicine, Baltimore, Maryland Mary Massery, PT, DPT, DSc, Therapy, Glenview, Illinois

Owner, Massery Physical

Melissa Maule, MPT, DPT, Physical Therapist, Mid-Shore Special Education Consortium, Easton, Maryland Irene McEwen, PT, PhD, DPT, Professor Emerita, Rehabilitation Sciences, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma Beth McManus, PT, MPH, ScD, Assistant Professor, Health Systems, Management, and Policy, Colorado School of Public Health, Methodologist, Children’s Outcomes Research Program, University of Colorado, Aurora, Colorado Mary Meiser, BS, MS, Physical Therapist, Mid-Shore Special Education Consortium, Easton, Maryland Cheryl Missiuna, PhD, OTReg (Ont), Professor, School of Rehabilitation Science, McMaster University, Hamilton, Ontario,

Canada G. Stephen Morris, PT, PhD, FACSM, President, Oncology Section, APTA, Associate Professor, Wingate University, Department of Physical Therapy, Wingate, North Carolina Margo N. Orlin, PT, PhD, FAPTA, Associate Professor, Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, Pennsylvania Roberta Kuchler O'Shea, PT, DPT, PhD, Professor, Physical Therapy, Governors State University, University Park, Illinois Blythe Owen, HBSc, MScPT, Physiotherapist, Rehabilitation Services, The Hospital for Sick Children, Lecturer, Physical Therapy, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada Robert J. Palisano, PT, ScD, FAPTA Distinguished Professor, Physical Therapy and Rehabilitation Sciences, Drexel University, Philadelphia, Pennsylvania Scientist, CanChild Centre for Childhood Disability Research, McMaster University, Hamilton, Ontario, Canada Mark Paterno, PT, PhD, MBA, SCS, ATC, Associate Professor, Division of Sports Medicine, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio Nancy Pollock, MSc, BSc, Associate Clinical Professor, School of Rehabilitation Science, McMaster University, Hamilton, Ontario, Canada Catherine Quatman-Yates, DPT, PhD, Assistant Professor, Sports Medicine, Physical Therapist III, Occupational and Physical Therapy, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio Lisa Rivard, PT, MSc, PhD(c), School of Rehabilitation Science, McMaster University, Hamilton, Ontario, Canada

Hemda Rotem, PT, Senior Physical Therapist, Alyn Pediatric and Adolescent Rehabilitation Hospital, Jerusalem, Israel Barbara Sargent, PhD, PT, PCS, Assistant Professor of Clinical Physical Therapy, Division of Biokinesiology and Physical Therapy, University of Southern California, Los Angeles, California Laura Schmitt, BA, MPT, PhD, Assistant Professor of Physical Therapy, School of Health and Rehabilitation Sciences, The Ohio State University, Columbus, Ohio Joseph Schreiber, PT, PhD, Professor and Program Director, Physical Therapy Program, Chatham University, Pittsburgh, Pennsylvania Jennifer Siemon, BHSc, MSc(OT), Coordinator, Behavioural Supports Ontario, Hamilton Health Sciences, Hamilton, Ontario, Canada David Shurtleff, MD, Professor Emeritus, Pediatrics, Division of Congenital Defects, Children’s Hospital and Medical Center, University of Washington, Seattle, Washington Meg Stanger, MS, PT, PCS, Manager of Physical Therapy and Occupational Therapy, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania Jean Stout, PT, MS, Research Physical Therapist, James R. Gage Center for Gait and Motion Analysis, Gillette Children’s Specialty Healthcare, St. Paul, Minnesota Wayne A. Stuberg, PT, PhD, FAPTA, PCS, Professor and Associate Director, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska Lorrie Sylvester, PT, PhD, Clinical Assistant Professor, Rehabilitation Sciences, University of Oklahoma Health Sciences Center, College of Allied Health, Oklahoma City, Oklahoma

Tim Takken, PhD, Child Development & Exercise Center, University Medical Center and Children’s Hospital, Utrecht, the Netherlands Chris D. Tapley, MSPT, Physical Therapy Clinical Specialist, Department of Physical Medicine and Rehabilitation, Occupational and Physical Therapy Division, University of Michigan C.S. Mott Children’s Hospital, Ann Arbor, Michigan Christina Calhoun Thielen, MSPT, Clinical Research Project Manager, School of Health Professions, Thomas Jefferson University, Philadelphia, Pennsylvania Kristin M. Thomas, PT, DPT, Physical Therapist, Center for Cancer and Blood Disorders, Children’s Hospital Colorado, Aurora, Colorado Janjaap van der Net, PhD, BSc, Associate Professor, Child Development and Exercise, University Children’s Hospital, UMC at Utrecht, Associate Professor, Clinical Health Sciences, Utrecht University, Utrecht, the Netherlands Darl Vander Linden, PT, PhD, Professor, Physical Therapy, Eastern Washington University, Spokane, Washington William O. Walker Jr. MD, Chief, Division of Developmental Medicine, Pediatrics, University of Washington School of Medicine/Seattle Children’s Hospital, Seattle, Washington Marilyn Wright, BScPT, MEd, MSc, Physical Therapy Discipline Lead, McMaster Children’s Hospital, Hamilton Health Sciences, Assistant Clinical Professor, School of Rehabilitation Sciences, McMaster University, Hamilton, Ontario, Canada

SECTION 1

Understanding Motor Performance in Children OUTLINE 1. Evidence-Based Decision Making in Pediatric Physical Therapy 2. Measurement 3. Motor Development and Control 4. Motor Learning: Application of Principles to Pediatric Rehabilitation 5. Musculoskeletal Development and Adaptation 6. Physical Fitness During Childhood and Adolescence

Evidence-Based Decision Making in Pediatric Physical Therapy Joseph Schreiber, and Robert J. Palisano

Pediatric physical therapists make multiple complex and challenging clinical decisions on a daily basis. These include determining eligibility and need for services, selecting intervention techniques and strategies to engage and motivate children, deciding the frequency and duration of services including when to discontinue services, and selecting outcome measures and interpretation of findings. An essential aspect of decision making in pediatric physical therapy is effective collaboration with families and children to determine the best course of action for an individual child at a particular point in time. On what basis do we make these important decisions with children and families? Evidence suggests that physical therapists make clinical decisions based primarily on knowledge gained from entry-level education, continuing education conferences, and from peers.4,6,25,27,53,54,38,24 Although this reliance on professional craft knowledge has historically served us well, it is an expectation in today’s health care

environment that physical therapists also integrate the best available research evidence into valid and reliable clinical decision making and that decision making be systematic and consistent. The purpose of this chapter is to provide guidance on optimal clinical decision making for pediatric physical therapists. Several overarching frameworks are presented, including the International Classification of Functioning, Disability and Health (ICF), the American Physical Therapy Association (APTA) Guide to Physical Therapy Practice, evidence-based practice, and effective and efficient strategies for knowledge acquisition, analysis, and integration. These frameworks are integrated into a collaborative evidence-informed decision-making model that should serve to optimize outcomes for children and families.

International Classification of Functioning, Disability and Health One important framework to guide clinical decision making is the International Classification of Functioning, Disability and Health (ICF; World Health Organization55), which aids in the identification of child and family strengths and needs, along with home and community/environmental considerations, including family resources and availability and accessibility of services. The ICF was developed to provide a scientific basis for understanding and studying health and health-related states, outcomes, and determinants. The ICF also is intended to provide a common language in order to improve communication among people with disabilities, health care providers, researchers, and policy makers. The ICF emphasizes “components of health” rather than “consequences of disease” (i.e., participation rather than disability) and environmental and personal factors as important determinants of health. The ICF model is available on the World Health Organization website (www.who.int/classifications/icf/en). A children and youth version (ICF-CY) was published by the World Health Organization in 2007.56 The model is the same as the ICF but codes for components of health, personal, and environmental factors were modified and new codes added to reflect development

and environments of children and youth from birth to 18 years. A resolution was passed in 2012 to merge the ICF-CY into the ICF. The ICF framework has been incorporated into the third edition of the Guide to Physical Therapist Practice2 and is used throughout this text. The diagram of the ICF model is presented in Fig. 1.1. The ICF has two parts. Part 1, Functioning and Disability, includes three components of health: body functions and structures, activities, and participation. Part 2, Contextual Factors, includes environmental and personal factors that influence components of health. For example, the impact of activity (ability to walk) and participation (ability to travel with classmates at school when going to lunch) may be influenced by the environment (distance from classroom to cafeteria and time to travel this distance) and personal factors (the child’s motivation to walk). The bidirectional arrows in the ICF model are inclusive of all possible relationships. The challenge when applying the ICF is to identify the relationships that are most relevant for an individual child and family. Body functions are the physiologic and psychological functions of body systems. Physiologic functions include respiration, vision, sensation, muscle performance, and movement. Psychological functions include attention, memory, emotion, thought, and language. Body structures are the anatomic parts of the body such as the brain, organs, bones, ligaments, muscles, and tendons. Impairments are problems in body functions and structures. Examples of impairments are limited ability to plan and execute movement, poor processing of sensory information, reduced cardiorespiratory endurance, lack of sensation, muscle weakness, balance difficulties, skeletal deformity, and joint contracture. Activity is the performance of a task or action by an individual. Activities represent the integrated use of body functions and vary in complexity. Examples of activities are maintaining and changing body positions, walking and moving around, lifting and carrying objects, fine hand use, and self-care. Activity limitations are difficulties in performing age-appropriate tasks or actions. Participation is involvement in a life situation. Most children participate in home life, school, community activities and organizations, and social relationships with friends. Participation is

highly individualized. What is important to one child may be of little consequence to another child. Participation restrictions are problems in involvement in life situations. Environmental factors make up the physical, social, and attitudinal environments in which people live and conduct their lives. Personal factors are the particular background of the individual’s life and living that are not part of a health condition or disorder. These factors may include gender, race/ethnicity, age, fitness, lifestyle, habits, coping styles, and past and current experiences.55 Box 1.1 lists considerations for applying the ICF to clinical decision making.

FIG. 1.1 Interactions between the components of the

International Classification of Functioning, Disability and Health (IFC). (Courtesy of the World Health Organization: International classification of functioning, disability and health. Geneva, Switzerland: WHO; 2002.)

For each of the three components of health and the environment factor, the ICF lists domains, categories within domains, and qualifiers to record the presence and severity of the problem. For

example, one domain for Activity and Participation is Mobility, and among the categories of Mobility are Walking and Transportation. Core sets of categories that are considered most relevant for particular health conditions have been developed and include cerebral palsy and autism (http://icf-research-branch.org). An example of a child with cerebral palsy spastic diplegia, Gross Motor Function Classification System level II, illustrates application of the ICF for clinical decision making (Fig. 1.2). The child’s impairments in the neuromuscular and musculoskeletal systems include hamstring and gastrocnemius muscle hypoextensibility, reduced muscle force production, poor balance, and limited muscular endurance. The child’s activity limitations include difficulties in walking on a sloping surface, walking amid people, and climbing playground equipment. At school, the child occasionally falls when walking from the bus to the classroom. Although the child has several friends and enjoys physical activity, participation in recess and physical education is restricted. Social and physical environmental factors that may contribute to restricted participation include the following: teachers are concerned that the child will get injured; the child’s classroom is located at the end of the school most distant from the playground; the terrain of the school yard is uneven; and students are crowded on the playground equipment.

B O X 1 . 1 Considerations

for Using the

International Classification of Functioning, Disability and Health as a Framework for Clinical Decision Making Body Functions and Body Structures Not all impairments are modified by physical therapy Not all impairments cause activity limitations and participation restrictions Relate impairments to activity limitations and participation restrictions Impairments are identified from examination and evaluation of

body functions and structures

Activities Relate activity limitations to participation restrictions Activity limitations can cause secondary impairments Activities are often measured by norm-referenced and criterionreferenced assessments

Participation Reflects child and family perspectives Is context dependent (environmental and personal factors) Is one aspect of health-related quality of life Is measured by child and parent self-report Is measured by observations in natural environments as well as parent and child self-report

FIG. 1.2 Example of application of the International

Classification of Functioning, Disability and Health to clinical decision making.

When applying the ICF framework, the therapist is encouraged to identify what the child does (strengths) in addition to impairments, activity limitations, and participation restrictions that limit or restrict what the child wants to or needs to do. The

challenge is to hypothesize cause-effect relationships. For example, what are the possible causes of a student’s restricted participation during recess and physical education? Will instruction and practice in walking in varied settings and climbing on playground equipment (motor learning) improve participation? A systematic review of interventions for children with cerebral palsy by Novak et al. (2013) reported evidence of effectiveness of interventions that are goal directed and provided in natural environments.36 Collaboration with the teachers to discuss their safety concerns and the feasibility of modifications to playground equipment are environmental considerations. The child’s feelings about energy conservation (e.g., being transported to the playground), modifications of playground equipment, and support from adults are examples of personal factors to consider in formulating an intervention plan. Note that in Fig. 1.2, only the hypothesized interactions are depicted. The arrow from the participation restrictions and activity limitation to impairments represents a secondary impairment.

Apta Guide to Physical Therapist Practice 3.0 The Guide to Physical Therapist Practice 3.0 (Guide 3.0) provides a framework to inform clinical decision making for patient/client management.2 At the time this chapter was published, Guide 3.0 was available online at no cost to members of the APTA or by paid subscription for other users. The second edition of the Guide (2001) was designed as a resource not only for physical therapists but also for health care policy makers, administrators, managed care providers, third-party payers, and other professionals. Guide 3.0 is a description of practice intended primarily for physical therapists and physical therapist assistants. The language of the Guide has been modified to be consistent with the ICF, and Review of Symptoms has been added to the Examination. The Preferred Physical Therapist Practice Patterns from earlier editions have been removed. The purposes of Guide 3.0 include description of: a) the roles of physical therapists and physical therapist assistants in

different practice settings, including roles in prevention and the promotion of health, wellness, and fitness; b) standardized terminology; c) the clinical decision-making process that occurs as part of patient and client management, including the examination and evaluation process focusing on tests and measures and selection of interventions; and d) measuring outcomes.

Patient/Client Management Model The model of patient/client management presented in Guide 3.0 is designed to maximize outcomes through a systematic and comprehensive approach to decision making. The model includes six elements: examination, evaluation, diagnosis, prognosis, intervention, and outcomes. The elements are used to organize content throughout the text.

Examination The physical therapist is required to perform an examination before providing any intervention. The examination consists of the history, systems review, and selected tests and measures. The history is an account of the child’s past and current health status, which is obtained through an interview with the child and caregivers and review of medical and educational records. As part of the history, the physical therapist identifies child and family expectations and desired outcomes of physical therapy. A useful means for documenting and quantifying family expectations is the Canadian Occupational Performance Measure.36 The physical therapist then considers whether these expectations and outcomes are realistic in the context of examination and evaluation data. The systems review is a brief screening that is intended to help focus the subsequent examination and identify possible health problems that require consultation with or referral to another health care provider. A thorough systems review is critical for managing clients who have direct access to physical therapy services. After analyzing information from the history and systems review, the physical therapist examines the child more closely, selecting tests and measures to obtain sufficient data to make an evaluation, establish a diagnosis and a prognosis, and select appropriate

interventions.

Evaluation Evaluation is a process in which the physical therapist makes judgments about the status of the child based on the information gathered from the examination. Evaluation refers to the process by which the results of the examination are analyzed and interpreted in order to determine a diagnosis within the scope of physical therapist practice; the prognosis, including goals for physical therapy management; and a plan of care. The evaluation process includes judgment of the relationships among impairments in body functions and structures, activity limitations, participation restrictions, and the influence of environmental and personal factors. We encourage therapists to consider child, family, and community strengths as part of the evaluation process. Strengthbased and ability-focused interventions build on the strengths and resources of the youth, family, and community.44

Diagnosis The definition of diagnosis as it pertains to physical therapist practice is evolving. Guide 3.0 states: “Physical therapists use labels that identify the impact of a condition on function at the level of the system (especially the movement system) and at the level of the whole person. Physical therapists use a systematic process (sometimes referred to as differential diagnosis) to classify an individual into a diagnostic category.”2 The aim is to identify the capacity of an individual to achieve the desired level of function (achieve goals) and whether this can be accomplished by physical therapy. Physical therapists, therefore, may need to obtain additional information (including diagnostic labels) from physicians and other professionals.

Prognosis Perhaps the greatest challenge to patient/client management is determination of the likelihood that an individual child or youth will achieve the desired goals of intervention. Prognosis refers to the predicted optimal level of improvement in function and the

amount of service needed to reach that level (frequency and duration of intervention). A trend in managed health care is to use periodic and episodic intervals of therapy services based on specific functional problems. This approach is a marked departure for children with developmental disabilities for whom ongoing services have traditionally been reimbursed based on medical diagnosis. If the examination and evaluation support the need for physical therapy, the therapist’s next important decision is the plan of care. What interventions should be implemented, how often, and for how long? Presently, research evidence to guide decisions on amount of service is limited. Outcomes are the changes that are anticipated as a result of implementing the plan of care. Expected outcomes should be measurable and time limited. Outcomes of therapy include changes in health, wellness, and physical fitness, emerging areas of pediatric practice.

Intervention Intervention is the purposeful and skilled interaction of the physical therapist with the patient/client and, when appropriate, with other individuals involved in patient/client care. Various physical therapy procedures and techniques are used during intervention to enable the child and family to achieve goals and outcomes that are consistent with the child’s diagnosis and prognosis. Physical therapy intervention has three components: (1) coordination, communication, and documentation; (2) patient/client instruction; and (3) procedural interventions.

Coordination, communication, and documentation These services are provided for all children and their families to ensure appropriate, coordinated, comprehensive, and cost-effective care and efficient integration or reintegration into home, community, and work (job/school/play). Services may include (1) case management, (2) coordination of care with family and other professionals, (3) discharge planning, (4) education plans, (5) case conferences, and (6) documentation of patient/client management. Children with disabilities are managed in a variety of settings, from public schools to private offices or rehabilitation facilities to

specialty clinics for orthotics, surgery, and assistive technology. Therapists in each of these settings often express frustration regarding the lack of coordination of services and the paucity of effective and timely information sharing among health professionals, teachers, and families.

Patient/client-related instruction These services are provided for all families to provide information about the child’s current condition, the plan of care, and current or future transition to home, work, or community roles. Methods of instruction include demonstration; modeling; verbal, written, or pictorial instruction; and periodic reexamination and reassessment of the home program. The educational backgrounds, needs, and learning styles of family members must be considered during this process. As part of family-centered services, therapists collaborate with children and families to identify how to incorporate exercise and practice of functional movements in daily activities and routines. Procedural interventions In the Guide 3.0, physical therapist interventions are organized into 9 categories: Patient or client instruction (used with every patient and client) Airway clearance techniques Assistive technology Biophysical agents Functional training in self-care and domestic, work, community, social, and civic life Integumentary repair and protection techniques Manual therapy techniques Motor function training Therapeutic exercise The child’s response to intervention is closely monitored, and the intervention plan is revised as appropriate. Throughout the text the authors provide recommendations supported by research and best practices for specific procedural interventions based on children’s age and health condition.

Outcomes Outcomes are the results of implementing the plan of care; they indicate the impact of the intervention on functioning (body functions and structures, activities, and participation). Outcomes are essential to evaluate the effect of physical therapy for individual children and evaluate services and programs within a health care organization or education system. Outcome measurement is addressed in Chapter 2, and recommendations are provided in the chapters on management of children with musculoskeletal, neurologic, and cardiopulmonary conditions.

Evidence-Based Practice Evidence-based practice is the standard for pediatric physical therapy. Evidence-based physical therapy practice has been defined as “open and thoughtful clinical decision making about the physical therapy management of a patient/client that integrates the best available evidence with clinical judgment and the patient’s/client’s preferences and values, and that further considers the larger social context in which physical therapy services are provided, to optimize patient/client outcomes and quality of life.”26 This open and thoughtful clinical decision-making paradigm implies a defensible, transparent, and reflective process and requires that practitioners know about and are capable of effectively sharing the best available evidence with patients/clients and caregivers. Pediatric physical therapists engage in lifelong learning and professional development as ways to know about current best evidence and therefore are faced with an almost constant need to acquire and integrate knowledge. There are a number of challenges and barriers that may impact these processes, including significant time constraints, lack of awareness of the evidence, limited confidence in interpreting and applying research results, disagreement with practice guideline recommendations, and the presence of economic, administrative, and interprofessional constraints.11,38,41,48 In addition, entrenchment of existing practice behaviors or habits may also limit practice change despite the presence of new knowledge.16,43,47

Background and Foreground Information An essential first step in efficiently acquiring new knowledge occurs during and after interaction with the child and family. Questions naturally arise regarding the best course of action to address problems and concerns. Questions may also arise related to the child’s health condition or age group. One way to organize these questions and to guide subsequent searching strategies is to determine whether there is a need for background or foreground information. Background information is most often related to a specific diagnostic condition and may include pathology and pathophysiology, etiology, prognosis and natural evolution of the condition, and medical and pharmacologic management. Background information may also include human anatomy, physiology, kinesiology, and neurology. Efforts to gather background information reflect a desire to understand the nature of a patient’s/client’s health condition, problem, or need. Novices and those lacking experience and expertise with a specific condition are more likely to gather this type of information, but it can also be useful for more experienced practitioners interested in ensuring that knowledge and understanding are up to date.26,18 A number of different types of resources may be used to search for and acquire background information. These include consulting with peers or practice leaders, continuing education courses, textbooks, web-based resources, and informal and formal inservices and practice/workshop sessions with colleagues and peers.50 Research articles often contain information relevant to background questions in their introductory paragraphs.26 Government agencies, professional societies, and national patient advocacy groups often vet this type of information and publish it for clinicians and consumers in written and electronic formats.26 In an effort to enhance the organizational structure and to support efficient knowledge gathering for the reader, the chapters in Physical Therapy for Children that focus on a health condition are organized by “Background Information” and “Foreground Information.” Each background information section includes pathology and pathophysiology, etiology, prognosis and natural evolution, and medical and pharmacologic management, in addition to any other relevant background information pertaining

to specific pediatric health conditions. Practitioners are likely to seek out foreground information on a frequent basis. This is due to the ongoing need to acquire new knowledge about the physical therapy management of children who present with specific movement challenges or diagnoses. Foreground information can aid practitioners in identifying, selecting, implementing, and interpreting the most appropriate diagnostic and prognostic tests and measures. In addition, continually building foreground information ensures that practitioners are aware of the most effective intervention strategies and procedures and can therefore collaborate optimally with caregivers and patients/clients to identify the most appropriate intervention for an individual child. Gathering this type of knowledge may be more helpful for practitioners after having acquired background knowledge about a specific health condition.18,26 In this text, each Foreground Information section includes evidence-based recommendations on physical therapy examination strategies, optimal tests and measures for diagnosis and prognosis, and on physical therapy intervention planning including procedural interventions, coordination and communication, and patient/client/caregiver instruction. Where appropriate, both the Background and Foreground Information will address the implications of life span changes as infants and children grow up and become adolescents and adults.

Declarative and Procedural Knowledge An interrelated way to organize clinical questions and knowledge gathering is to determine whether there is a need for additional declarative knowledge or procedural knowledge. Declarative knowledge can be thought of as “knowing what.” The ability to name the bones in the wrist, describe the typical characteristics of an adolescent with Down syndrome, and explain the process of serial casting to a student or novice physical therapist are examples of declarative knowledge. A second type of knowledge is procedural knowledge, which involves knowing how and knowing when to apply various procedures, methods, theories, styles, or approaches. For pediatric physical therapists, this might include implementation

of standardized testing procedures, modulation of amount of assistance during gait training, and strategies to motivate a child to complete a challenging task.1 It is common for students and novices to know facts and concepts but not now how or when to apply them. In contrast, practitioners may also be able to perform procedural tasks without being able to articulate a clear understanding of what they are doing and why.1

Evidence-Based Resources for Acquiring Knowledge As noted previously, thoughtful reflection on practice often leads to identification of clinical questions. If the question necessitates obtaining foreground information, an important next step to aid in focusing the search process is to configure the clinical problem into a PICO format, which involves four elements: P = patient, I = intervention, C = comparison intervention, and O = outcome. Examples of PICO questions (or PIO questions, where only one intervention is being investigated) are included in Box 1.2. Once the question has been refined, the 6S model is a means to enhance efficient knowledge gathering to address the question (Fig. 1.3).8 This model reflects the evolution over the past decade toward creation and use of “preappraised” resources that facilitate ready access to high-quality research. Preappraised resources can increase the efficiency of searching for and analyzing research evidence because they have undergone a filtering process to include only those studies that are of higher quality. In addition, ideally the resources are updated regularly, which ensures that the evidence is current.8 The 6S model can aid in gathering background information about a health condition. For foreground information, decision makers should use a PICO question to search for evidence starting at the highest level of the pyramid, and therefore the most synthesized form of evidence, as opposed to beginning the search at the bottom of the pyramid, representing the least synthesized form of evidence. It becomes necessary to move to lower levels in the pyramid only when no evidence exists at a higher level.42 At the top of the pyramid are Computerized Decision Support Systems that match information from specific clients (individuals,

groups, or populations) with the best available evidence that applies. These systems provide suggestions to the clinician for management of the specific patient.8 Ideally the decision support is provided automatically as part of daily work flow, at the time and location of decision making, and with specific actionable recommendations. Systems represent the ideal resource for evidence-informed decision making because they contain all the research evidence about a specific client or population circumstance, linked to individual client records and to a synopsis of the existing relevant research literature with direct links to the original studies and/or reviews.42 Although there are efforts currently under way to develop systems level data, it is not expected that these will be readily available in the near future.42

B O X 1 . 2 Examples

of Clinical Questions

Written Using the PICO Format For (P) children with developmental coordination disorder, is (I) cognitive motor learning more effective than (C) sensory integration in improving (O) motor function? For children (P) with hemiplegia, is (I) bimanual coordination therapy more effective than (C) constraint-induced movement therapy in improving (O) arm and hand motor function? For (P) infants with torticollis, what (I) physical therapy interventions improve (O) head and neck alignment and range of motion? For (P) children with Duchenne muscular dystrophy, is (I) resistive exercise effective in (O) maintaining the ability to walk? For (P) parents of infants born preterm, does (I) support, education, and instruction in the neonatal intensive care nursery improve (O) confidence and skill in handling and caring for their infants upon discharge to home?

FIG. 1.3 6S hierarchy of preappraised evidence.

(From

DiCenso A, Bayley L, Haynes RB: Accessing pre-appraised evidence: fine-tuning the 5S model into a 6S model. Evid Based Nurs 12(4):99-101, 2009.)

The next level of the 6S pyramid is Summaries, which integrate the best available evidence from the lower levels (drawing on syntheses [e.g., systematic reviews] as much as possible) to provide a full range of evidence concerning management options for a given health condition.22 Examples include evidence-informed clinical practice guidelines (CPGs) and electronic textbooks, which can easily be made universally available (e.g., via the Internet), and are more feasible to keep up to date and provide some level of passive decision support. A well-known source for evidence-informed clinical practice guidelines is the National Guidelines Clearinghouse (NGC) (http://guideline.gov). The NGC, an initiative of the Agency for Healthcare Research and Quality (AHRQ), is a repository of clinical practice guidelines. The APTA, in collaboration with a number of sections including the Section on Pediatrics (SOP), also actively supports the development of clinical practice guidelines in order to reduce unwarranted variation in care. An example is a CPG for congenital muscular torticollis published in Pediatric Physical Therapy in 201328 and also available through the NGC website. Practitioners accessing CPGs and other summary documents should ensure that they meet the following criteria15:

Based on a systematic review of the existing evidence Developed by a knowledgeable, multidisciplinary panel of experts and representatives from key affected groups Considers important patient subgroups and patient preferences, as appropriate Based on an explicit and transparent process that minimizes distortions, biases, and conflicts of interest Provides a clear explanation of the logical relationships between alternative care options and health outcomes and provides ratings of both the quality of evidence and the strength of the recommendations Reconsidered and revised as appropriate when important new evidence warrants modifications of recommendations An additional resource for appraisal of clinical practice guidelines is the Appraisal of Guidelines for Research and Evaluation (AGREE II) collaboration. This collaboration includes members from Denmark, Finland, France, Germany, Italy, the Netherlands, Spain, Switzerland, the United Kingdom, Canada, New Zealand, and the United States. AGREE II is a reliable and valid instrument to assess clinical practice guidelines developed by local, regional, national, or international groups and government organizations and can be used by physical therapists deciding whether to implement recommendations in a practice guideline or pathway. The instrument provides guiding questions and a response scale to assess the scope and purpose of a guideline, the people involved in development, rigor of development, clarity and presentation of recommendations, applicability, and editorial independence. The instrument and training manual are available on the AGREE website (http://www.agreetrust.org). The next level on the 6S pyramid is Synopses of Syntheses, which are defined as succinct descriptions of systematic reviews or metaanalyses that aim to provide the right amount of evidence (not too much nor too little) to inform an intervention.22 Ideally, these synopses describe the research question, the study groups, the outcomes, and the measure of effect or other results of a body of evidence. These summaries often discuss the methodologic quality of the synthesis and the relevance of the findings to health practice, program development, and policies. Given that many busy

clinicians do not have the time to review detailed systematic reviews, a synopsis that summarizes the findings of a high-quality systematic review can often provide sufficient information to support clinical action. One example is the Database of Abstracts of Reviews of Effectiveness (DARE) of the Centre for Review Dissemination (CRD) at the National Institute for Health Research in the United Kingdom. DARE assists decision makers by systematically identifying and describing systematic reviews, appraising their quality, and highlighting their relative strengths and weaknesses.42 At the next level, Syntheses are synonymous with systematic reviews and meta-analyses and are found in peer-reviewed journals. Syntheses combine, using explicit and rigorous methods, the results of multiple single studies to provide a single set of findings.22,42 The Cochrane Library (www.thecochranelibrary.com/) houses syntheses about the effectiveness of health care interventions and some diagnostic tests and also includes the DARE database of systematic reviews.8 In a well-conducted systematic review, all relevant research is analyzed in an effort to determine the overall evidence. The process involves: (1) a focused clinical question, (2) identification of criteria for inclusion of a study in the review, (3) a comprehensive literature search, (4) appraisal of the internal validity (methodologic quality) of each study included in the review, (5) a description of how results were analyzed, and (6) interpretation of findings in a manner that enhances application to clinical practice.10 Just as in a research report, therapists must critique a systematic review. A systematic review is only as good as the quality of each study included. Meta-analysis is a mathematical synthesis of the results of two or more research reports. A meta-analysis can be performed on studies that used reliable and valid measures and report some type of inferential statistic (e.g., t-test, analysis of variance). Effect size, odds ratio, and the weighted mean difference are examples of statistics used for meta-analysis. Effect size is the mean difference of the outcomes of interest between subjects in experimental and comparison/control groups. The most basic measure of effect size is the d-index. The d-index is the mean difference between groups divided by the common

standard deviation. Cohen5 provided the following guidelines for interpretation of the d-index: d = 0.2 represents a small effect, d = 0.5 represents a medium effect, and d = 0.8 represents a large effect. Fig. 1.4 and Table 1.1 present the overlap of scores between subjects in the experimental and control group for selected effect sizes. The overlap in distribution of scores has important implications for clinical decision making. A finding that the mean score on the outcome measured was significantly higher for subjects in the experimental group does not indicate that all subjects or even most subjects in the experimental group had better outcomes than subjects in the comparison/control group. As illustrated in Table 1.1, even for a large effect size (0.80), there is a 53% overlap in scores of subjects in the experimental and control groups. Consequently, when applying the evidence to clinical decisions for an individual child, the therapist would not be certain of that child’s outcome.

FIG. 1.4 Distribution of scores of subjects in the

experimental and control groups for small-, medium-, and large-effect sizes (illustrations not drawn to scale).

TABLE 1.1 Interpretation of Effect Size Based on Cohen’s Criteria5 Effect Size 0.00 0.20 0.50 0.80 1.70 a

Interpretation No effect Small Medium Large

Overlap of Scoresa 100% 85% 67% 53% 25%

Overlap in individual scores of subjects in the experimental and control groups.

The Forest Plot Diagram is used to graphically present the results of a systematic review. Results may be presented as an effect size, weighted mean difference, or odds ratio; however, interpretation is

the same. Fig. 1.5 illustrates a Forest Plot Diagram for a metaanalysis of four randomized controlled trials. The odds ratio is used to present the results of each study and the meta-analysis. The odds ratio is presented on a scale of 0.10 to 10.0; 1.00 is the line of no effect. Each study is represented on the graph by a horizontal line. The vertical mark in the middle of the line is the odds ratio, and the diamonds at the far left and right indicate the boundaries of the 95% confidence interval. If a horizontal line crosses the line of no effect, the odds ratio is not significantly greater than 1 (P > 0.05). When the horizontal line is to the right of the line of no effect, the odds ratio is significantly greater than 1 (P > 0.05). In Fig. 1.5 the odds ratio for only one study is significantly greater than 1 (top study). The horizontal lines for the remaining three studies cross the line of no effect, indicating the odds ratio is not significantly greater than 1. The thicker horizontal line at the bottom is the overall odds ratio for the four studies. The overall odds ratio is 0.90 (P > 0.05), indicating that subjects who received the experimental intervention were not more likely to improve compared to subjects who did not receive the experimental intervention (control group). Miser34 suggested that an odds ratio of 2.0 or greater represents a strong intervention effect. An odds ratio of 2.0 indicates that subjects who received the intervention are two times more likely to have improved on the outcomes measured compared with subjects who did not receive the intervention.

FIG. 1.5 Graph of meta-analysis using the odds ratio.

Educators and researchers have responded to the need for systematic reviews and meta-analyses of research on children with developmental conditions. Simple Medline searches in which “cerebral palsy” and “developmental coordination disorder” were each combined with “systematic review” identified 14 systematic reviews of research on children with cerebral palsy and 5 reviews of research on children with developmental coordination disorder published between 2010 and 2015 judged to have application to pediatric physical therapy practice. In most databases, searches can be limited to systematic reviews. This is a good strategy for determining whether a systematic review has been published on the clinical question of interest. An intermediate level on the 6S pyramid is the Synopses of Studies. The synopsis of a single study provides a brief, but often sufficiently detailed, summary of a high-quality study that can inform clinical practice.8 These synopses will also often include a brief commentary about the clinical applicability of the results of the study. Some relevant resources to obtain these synopses include Rehab+, which is a part of McMaster University’s evidence-based practice initiative and a subset of Evidence Updates. Rehab+ provides selected abstracts from 130 clinical journals. Each registrant to Rehab+ receives email alerts with links to the article abstract along with the article’s relevance and newsworthiness ratings. In addition, both Physical Therapy and Pediatric Physical Therapy feature a “Bottom Line” commentary that accompanies many of the clinical research articles in those journals. This commentary asks and answers a number of pertinent questions about the research. A final possible resource for clinicians is to create their own synopses by following a systematic appraisal and documentation process. There are a variety of resources available to aid clinicians in working through this process based on the clinical question and the relevant type of research.18 The critically appraised topic (CAT) is a one- or two-page summary of a research study that includes implications for practice, the “clinical bottom line.” The format is intended to facilitate transfer of research to practice.10 The foundation of the pyramid, and the final stop in searching for evidence if none exists at higher levels, is Individual Studies. The individual study, published in a peer-reviewed journal, is the most

common form of evidence available. Electronic databases are the most efficient method for finding individual studies in peerreviewed journals. Electronic databases provide bibliographic references to thousands of peer-reviewed journals and can be searched from a personal computer via the Internet. In addition to the complete reference, databases provide links to the abstract and, increasingly, the full text of published articles. Many journals provide online access to articles before publication in print. Box 1.3 summarizes several commonly used electronic databases. Tutorials are available on each database to aid in conducting efficient and successful searches. Typically, the PICO question provides keywords and phrases that guide the initial search. Each keyword can be used individually or in combination and, depending on the database, can be modified in ways that either expand or narrow the focus of the search.

B O X 1 . 3 Electronic Physiotherapy Evidence Database Scale (PEDro) PubMed National Guidelines Clearinghouse Cochrane Database of Systematic Reviews

Databases http://www.pedro.org.au/ http://www.ncbi.nlm.nih.gov/pubmed/ http://www.guideline.gov/

http://community.cochrane.org/editorial-and-publishingpolicy-resource/cochrane-database-systematic-reviewscdsr Google Scholar https://scholar.google.com/ Cumulative Index to Nursing and https://health.ebsco.com/products/the-cinahl-database Allied Health Literature (CINAHL)

As with higher levels of the 6S pyramid, physical therapists must use critical analysis skills to ascertain the strength and quality of evidence from individual studies and to determine whether that evidence justifies a change in clinical practice. For example, Harris20 posed several thought-provoking questions for professionals to ask themselves when analyzing the scientific merit of an intervention. A negative response to one or more of these questions is a warning sign that an intervention is not evidence based. Is the theory on which the intervention is based consistent with

current knowledge? Is the population for whom the intervention is intended identified? Are the goals and outcomes of intervention consistent with the needs of the intended population? Are potential adverse effects of the intervention identified? Is the overall evidence critiqued? Are advocates of the intervention open to discussing its limitations? If these criteria are satisfied, there are a number of strategies to further assess the strength and quality of any evidence.

Appraisal of Research from Individual Studies The paramount questions for applying research evidence from individual studies are whether findings generalize to children who were not in the study and are applicable to the particular child for whom the intervention is a consideration. These are complex issues. To assist practitioners in decision making, systems have been developed to rate the strength of research evidence, methodologic quality (how well the study was conducted), and grade of recommendation.

Strength of Evidence The levels of evidence framework proposed by Sackett, refined by the Centre for Evidence-Based Medicine (CEBM) at the University of Oxford in 2009 (http://www.cebm.net) and revised in 2011 (Oxford Levels of Evidence 2; http://www.cebm.net), are often used to report the strength of evidence of research on prognosis, diagnosis, differential diagnosis/symptom prevalence, intervention, and economic and decision analyses.46 Using the CEBM Levels of Evidence (2009) to rate the strength of evidence for therapy interventions, a systematic review of randomized controlled trials (RCTs) provides the strongest evidence (1a), whereas a single RCT of high quality provides 1b evidence. The strength of evidence for studies using observational designs (also referred to as nonexperimental designs) is rated as level 2 or 3. Level 4 evidence is

associated with case series (multiple case reports) and poor-quality observational designs. Level 5 evidence is based on expert opinion, general scientific knowledge, or basic science research. The randomized controlled trial is an experimental design that provides evidence of efficacy (results of interventions provided under randomized and controlled conditions). The feature that distinguishes the RCT from observational designs is random group assignment; subjects have an equal chance of being in the experimental or comparison/control group. In theory, random group assignment controls for variables not measured that may influence intervention outcomes. The RCT therefore provides the strongest evidence of a cause-effect relationship between the experimental intervention (independent variable) and the outcome (dependent variable). Another distinguishing feature of the RCT is that inclusion criteria are usually restrictive in an effort to obtain a sample without characteristics such as co-morbid health conditions that might adversely influence the outcomes. The parameters of the intervention are also specified by the researchers, and the intervention is intended to be provided in the same manner to all subjects. Although the RCT provides the strongest evidence of a causeeffect relationship between the intervention and outcomes, trials are costly and challenging to implement with children with developmental disabilities. To adhere to the rigor of an experimental design, the intervention is often provided under conditions that are not representative of many practice settings. Consequently, when attempting to apply the results of an RCT, therapists must consider whether subject characteristics generalize to children on their caseloads and whether the intervention is feasible within their practice settings. The pragmatic clinical trial is intended to meld the advantages of efficacy and effectiveness research. The pragmatic clinical trial is characterized by random group assignment; however, interventions are clinically feasible, subjects are from diverse populations and practice settings, and a wide range of outcomes are measured.52 Observational designs provide evidence of effectiveness (interventions provided under conditions more typical of clinical practice). Cohort, case control, and case series are examples of

observational designs. Level 2 evidence is associated with cohort designs, sometimes referred to as quasi-experimental designs. Subjects are not randomly assigned to the experimental or comparison/control group. Additionally, subject inclusion criteria and the intervention are usually not controlled by the researchers to the same extent as in the RCT. Level 3 evidence is associated with observational designs where there is no control group or the intervention is not specified by the researchers or both. A practical clinical trial refers to a prospective, cohort study designed to analyze variability among patients and interventions on the outcomes of interest.13 Clinical practice improvement (CPI) methodology is a type of observational research that is intended to identify specific intervention strategies and procedures that are associated with outcomes and determinants of outcomes.23 Horn contends that the RCT is designed to investigate a single procedural intervention as opposed to the combination of strategies and procedures that constitutes a typical physical therapy intervention. In clinical practice improvement, standardized forms are created to document intervention strategies and procedures and time spent on each activity. Data are also collected on variables that potentially influence outcomes. Variables might include child characteristics (age, severity of condition, interests, cognition, and communication), family characteristics (family dynamics, interests, resources, supports), and features of the physical, social, and attitudinal environment. Multivariate statistical analyses are used to identify among all of the interventions documented those that are associated with favorable outcomes and child, family, and environment variables that are determinants of outcomes. This type of information is appealing to physical therapists because it informs the decision-making process. Although clinical practice improvement is feasible to implement in practice settings, multivariate analyses require large numbers of subjects. The CEBM Levels of Evidence 2 differ from the original framework in the definition of levels 1 and 2, removal of subcategories (i.e., 1a, 1b), less technical wording, and the acknowledgement that a “lower level” study with a “dramatic effect” can provide stronger evidence than a “higher level” study.

Inclusion of n-of-1 trials as level 1 evidence is a marked change from the original framework, which did not address single-subject research designs. The n-of-1 trial is similar to the single-subject design; each subject serves as his or her own control. Descriptions of how to conduct n-of-1 trials are generally more rigorous that is typical of single-subject designs published in pediatric physical therapy and potentially less feasible to implement in clinical practice.29 In the single-subject design, outcomes are measured repeatedly during baseline, intervention, and follow-up phases. Within-subject variability between phases is analyzed. This is in contrast to the group design, where between-subject variability is analyzed. The single-subject design is experimental; therefore results can provide evidence of a cause-effect relationship for the subject. Findings, however, should not be generalized to other children. Replication of single-subject designs across subjects and practice settings provides initial evidence of generalizability. Generalization of findings from n-of-1 trials is not addressed in Levels of Evidence 2.

Qualitative and Mixed Methods Research Qualitative and mixed methods of inquiry have been used in nursing and occupational therapy and increasingly more often in physical therapy.19 Qualitative research is well suited for understanding processes associated with effective communication, coordination, and documentation and child-and family-related instruction, two components of physical therapist interventions. The experiences and values of consumers (e.g., children and families), practitioners, and administrators are integral components of health services research that are too often missing in clinical research. Qualitative research is not addressed in the CEBM Levels of Evidence. Phenomenology and grounded theory are two qualitative approaches that are frequently used in health care research. Both are concerned with understanding the lived experiences of the population of interest. Themes or theory emerge from analysis of data that are grounded in the social world of the people being studied. This is in contrast to experimental and quantitative

research that is based on the researcher’s preconceived hypothesis. Participatory action research is a qualitative approach that involves collaboration of consumers, practitioners, and researchers to address specific questions or issues. Children, families, and practitioners are participants or co-researchers who provide input about the questions or issues to address, feasibility of proposed practices, and dissemination of information in usable formats. The preferences and values of consumers and practitioners therefore are incorporated into the design and implementation of research. Schreiber et al.48 used participatory action research to collaborate with pediatric physical therapists to identify strategies for implementation of evidence-based practice. Qualitative methods are distinct from those used in experimental research, especially with respect to sample size. Data collection typically involves interviews and focus groups that are recorded and transcribed verbatim. Interviews include neutrally worded, open-ended questions followed by prompts and follow-up questions to encourage participant reflection. Other methods of data collection include observation and examination of artifacts such as medical records and clinical documentation. Data analysis is an iterative process. Procedures to ensure credibility and trustworthiness are used to ensure the themes or therapy that emerges represents the perspectives and lived experiences of study participants. The textbook by Creswell7 provides a more extensive understanding of qualitative research. Mixed methods designs, which incorporate both quantitative and qualitative methods, are increasingly being used in rehabilitation research.39 Depending on a study’s aims, the qualitative dimension may proceed or follow the quantitative phase. In outcomes research, qualitative interviews following the intervention are useful in understanding how children, parents, and therapists experienced the intervention and whether the intervention was feasible and acceptable. Finally, although not a research design per se, the case report is a valuable means of communicating practice knowledge including indepth description of a new, interesting, or unique case and implications for clinical decision making. A case report may also describe innovative approaches to coordination of services,

methods of service delivery, and issues germane to a practice setting. McEwen33 has published an excellent manual for clinicians on how to write case reports.

Methodologic Quality in Individual Research Studies Methodologic quality is not a primary consideration in systems for rating strength of research evidence in the system developed by the CEBM. Controversy exists as to whether the strength of evidence is greater for a cohort design of high methodologic quality compared with a RCT of poor methodologic quality. The Physiotherapy Evidence Database (PEDro) scale (http://www.pedro.org.au/) is widely used to evaluate the methodologic quality of RCTs. Ten criteria on internal validity (e.g., random allocation to groups, whether subjects, therapists, and assessors were masked to group assignment) and interpretation of results (e.g., between group statistical comparisons, intention to treat analysis) are rated “Yes” or “No.” A Pedro scale score of ≥ 5 or ≥ 6 has been proposed as adequate methodologic quality.35 Maher et al.31 reported that the reliability of the PEDro scale varied from “fair” to “substantial” for each criterion and “fair” to “good” for the total score. Macedo et al.30 found evidence of content and construct validity for 8 of the 10 criteria. The exceptions were “blinding of all therapists” and “blinding of all assessors.” Authors are strongly encouraged to report the methodologic quality of each study included in a systematic review and exclude studies with poor methodologic quality. The CONSORT (http://www.consort-statement.org/) and STROBE (http://www.strobe-statement.org/) statements were developed to improve reporting of the results of RCT and observational research respectively. Many peer-reviewed journals require authors to complete the respective checklist when submitting a manuscript to ensure that methodologic strengths and limitations of the study are addressed. Intention to treat analysis is a criterion for rating methodologic quality that has important implications for interpretation of results. Subjects who are enrolled in a clinical trial but do not complete the intervention are included in statistical analysis (potentially reducing the effect size). Not

including all subjects in the statistical analysis introduces bias if subjects’ reasons for not completing the study are related to group assignment or perceived lack of benefit or progress, compromising the intent of randomized group assignment.

Grades of Recommendations Once new knowledge has been acquired, the GRADE system (Grading of Recommendations Assessment, Development, and Evaluation) is a tool to aid practitioners in determining whether practice change is warranted.17 An important advantage to this system is that it includes explicit, comprehensive criteria for downgrading and upgrading quality-of-evidence ratings. To achieve transparency and simplicity, the GRADE system classifies the quality of evidence in one of four levels—high, moderate, low, and very low. High-quality evidence indicates that further research is very unlikely to change confidence in the estimate of effect, whereas with low-quality evidence, further research is very likely to have an important impact on confidence in the estimate of the effect and is likely to change the estimate. Evidence from randomized controlled trials may begin as high-quality evidence, but confidence in the evidence may be decreased for several reasons, including study limitations, inconsistency of results, indirectness of evidence, imprecision, and reporting bias. Observational studies start with a low-quality rating, but grading upwards may be warranted if the magnitude of the treatment effect is very large or if there is evidence of a dose-response relation.17 An additional important aspect of the GRADE system is that it incorporates a clear separation between quality of evidence and strength of recommendations. Two grades for strength of recommendation are possible: Strong and Weak. When the desirable effects of an intervention supported by high-quality evidence clearly outweigh the undesirable effects, or clearly do not, this leads to a strong recommendation. On the other hand, when the tradeoffs are less certain—either because of low-quality evidence or because evidence suggests that desirable and undesirable effects are closely balanced—weak recommendations are provided. Other factors affecting the strength of recommendation include

uncertainty in patient values and preferences and uncertainty about whether the intervention represents a wise use of resources.17 In the GRADE system a “strong recommendation” implies that all or almost all informed people would make the recommended choice for or against the intervention (Do it or Don’t do it); a “weak recommendation” implies that most informed people would choose the recommended course of action but a substantial number would not (Probably do it or Probably don’t do it)3 Novak37 proposed an Evidence Alert Traffic Light Grading System for recommendations on physical therapy and occupational therapy interventions. Based on the amount and quality of evidence, one of three recommendations is made: Green GO: High-quality evidence; use this approach. Yellow MEASURE: Low-quality or conflicting evidence; measure outcomes carefully to ensure the goal is met. Red STOP: High-quality evidence that intervention is ineffective; do not use this approach.37

Knowledge Translation If a specific aspect of pediatric physical therapy practice is worthy of a strong recommendation based on the GRADE system, all pediatric physical therapists should strive to integrate this into an evidence-informed decision-making process. In contrast, if there is a strong recommendation to not use a specific intervention, this should also be integrated into the evidence-informed decisionmaking process. If either of these scenarios requires a substantial change from standard practice, either at the individual level or within a group of clinician colleagues, implementing this change is likely to be challenging. The concept of knowledge translation (KT) has recently emerged as a strategy to address this challenge. Knowledge translation is defined as a dynamic and iterative process that includes synthesis, dissemination, exchange, and ethically sound application of knowledge to improve health, provide more effective health services and products, and strengthen the health care system.40 Graham et al.14 developed a schematic representation of the knowledge-to-action process (Fig. 1.6). The funnel symbolizes knowledge creation, and the cycle represents the activities and

process related to application of knowledge (action).14 As such, the activities and process cycle is likely to be of more direct relevance to practitioners and others who are attempting to change their own practice behaviors or those of professional colleagues. In an effort to illustrate how this action cycle may be implemented, Table 1.2 presents each phase along with the relevant activities of a recent KT project implemented in a pediatric outpatient facility.49 The outcomes of this project demonstrated that a comprehensive approach to KT can be effective at supporting behavior change in pediatric physical therapists practicing in an outpatient setting.49

Evidence-Informed Clinical Decision Making Ultimately, a clinical decision for an individual child and family is guided by a model of evidence-informed decision making.21 This model, adapted from Haynes et al.21 and modified for pediatric physical therapy, is presented in Fig. 1.7. Although evidence-based practice is a more common term (and is used in the title of this chapter), opinion varies on what constitutes evidence. Initially evidence referred to research. Thus the term evidence-informed is used in the model presented in Fig. 1.7 and applied throughout the book to emphasize that factors in addition to research inform decision making. Each of the overarching decision-making frameworks previously described in this chapter contributes to the optimal application of this model. When a clinical question arises, the process must include identification of the child’s and family’s strengths and needs. This involves systematic data collection at the impairment, activity, and participation levels along with identification of key personal and environmental factors. This data collection may occur during the history, systems review, or tests and measures sections of the physical therapy examination or during the ongoing evaluation of outcomes during intervention within patient/client management. The use of valid and reliable tests and measures is an essential aspect of the data collection process.

FIG. 1.6 Knowledge-to-action process.

(Redrawn from

Graham I, Logan J, Harrison MB, et al.: Lost in Knowledge Translation: Time for a Map? J Contin Educ Health Prof 26(1):13-24, 2006.)

TABLE 1.2 Knowledge Translation Example Knowledge-to-Action Cycle Phase Identify problem: Group or individual identifying a problem or issue that deserves attention or a group or individual becomes aware of knowledge, and then determines whether there is a knowledge-topractice gap that needs filling with the identified knowledge

Identify, review, select knowledge; adapt to local context: A search for knowledge (background) or research (foreground) that might address the problem; this typically will encompass database searches for relevant clinical practice guidelines, systematic reviews, and research articles, appropriate continuing education courses, and reliable webbased resources. Critical appraisal of all evidence

Project Implementation49 Key stakeholders identified inconsistent clinical decision making among staff physical therapists related to frequency and duration of outpatient physical therapy services as a significant clinical problem and that improved selection, administration, interpretation, and sharing of results of pediatric outcome measures was critical to addressing that problem Collaboration among senior staff and department administrator to identify appropriate tests/measures for practice setting; database search to ascertain strength of evidence and appropriate use for each outcome measure Note that “adapting to local context” also was incorporated into the

then determines validity and usefulness for the identified problem.

intervention stage, where staff members actively practiced with the outcome measures in their workplace and adapted the tests where appropriate to fit within the constraints of each clinic workspace. Assess barriers to knowledge use so that these may be Lack of knowledge among staff targeted and hopefully overcome or diminished by regarding administration and intervention strategies; also identify supports or interpretation of key outcome measures; facilitators to address barriers configuration of electronic medical record; access to test/measure materials and equipment; variable space and layout across four separate satellite clinics Select, tailor, implement interventions based on the Two-hour workshop led by knowledge identified barriers and audiences; change is more broker45 at each satellite; one-hour likely to occur with planned and focused follow-up workshop; hard copy and interventions online resource manual (including video demonstrations) with all relevant information about key outcome measures; online discussion board and periodic newsletter updates regarding practice change Monitor knowledge use to determine how and the Follow-up workshops; mandatory extent to which it has diffused among the group; can discussion board postings by staff; be used to determine whether interventions have informal ongoing interaction between been sufficient or if additional intervention is knowledge broker, department necessary administrator, and staff; monitoring of data from electronic medical records related to key outcome measures; integration into annual goals for staff Evaluate outcomes to determine the impact on health Knowledge assessment related to key and well-being of patients/clients, practitioners, outcome measures; a self-report measure and/or systems of knowledge and performance; electronic medical record review for frequency of test/measure usage before and after the intervention Sustain knowledge use Follow-up data collection on outcomes at 10 months post–project implementation date

FIG. 1.7 Model of evidence-informed decision

making. (Adapted from Haynes RB, Devereaux PJ, Guyatt GH: Clinical expertise in the era of evidence-based medicine and patient choice. Evid Based Med 7(2):36-38, 2002.)

The practitioner must also identify any additional background and foreground information that may be necessary to address this clinical question and whether additional declarative and procedural knowledge must be obtained. If foreground information is required, practitioners should use the 6S model and the GRADE system to seek out, gather, and evaluate research evidence in order to develop a clinical recommendation. At that point, sharing the findings from the examination or evaluation of outcomes and offering a GRADE recommendation should incorporate the therapist’s practice knowledge and should occur in a way that empowers children and

families to integrate their own personal preferences and values to make the best decision at that point in time for that individual child. The statement, “Evidence alone does not make decisions, people do,” by Haynes et al.21 reflects the integral role of the physical therapist in translating and applying research to evidenceinformed clinical decisions to achieve optimal participation level outcomes for children and families. Embedded in the practice knowledge aspect of evidenceinformed decision making is clinical reasoning, which has been conceptualized as the process of deciding on the appropriate action for an individual patient at a particular time. Knowledge is viewed as a starting point but not as a strict plan for action. As part of the process of individualizing clinical decisions, the therapist makes judgments and improvises in moving from general practice guidelines to the requirements of a specific situation.32 Mattingly suggested that judgment and improvisation are often guided by knowledge that is embodied in the therapist’s hands or eyes.32 Part of the therapist’s practice knowledge therefore is reflected in implicit thought processes that are translated into habitual ways of observing and interacting with children and families. Pediatric physical therapists are encouraged to strive for better understanding of their thought processes, not only to enhance their own professional development but also to serve their clients and educate physical therapy students more effectively. Understanding how best to integrate child and family strengths and preferences, research evidence, and practice knowledge is essential for the implementation of evidence-based decision making that reflects the broad scope and complexity of pediatric physical therapy. A description of evidence-informed clinical decision making is presented in Box 1.4.

B O X 1 . 4 Evidence-Informed

Decision Making

Clinical Question DeMarco is a 5-year-old with a diagnosis of cerebral palsy, level II on the Gross Motor Function Classification System (GMFCS). He has been receiving outpatient physical therapy (2×/week) for

the past 2 years. He will be attending kindergarten in the fall. The clinical question is whether DeMarco would benefit from a trial of intensive (5×/week for 4 weeks) outpatient physical therapy this summer in order to maximize his ability to participate in his kindergarten classroom.

Child and Family Strengths, Needs, and Preferences Recent re-evaluation data suggest that DeMarco has improved with gross motor function and performance on activity level tasks but that he is well behind age-matched peers in gait velocity and ability to ascend and descend stairs. DeMarco is willing and able to participate in intensive bouts of activity during weekly physical therapy sessions. Parents are concerned that DeMarco is becoming isolated from age-matched peers and are strongly invested in doing everything possible to help him succeed both socially and academically in his neighborhood and at school. DeMarco’s mother saw a brochure for the intensity program in the waiting room and inquired as to whether this might be an option for him. She expresses some concern that transporting DeMarco to the outpatient clinic 5 days per week would be difficult due to work and family obligations.

Research Evidence Two synopses of studies documents were identified.9,12 The lowquality evidence and the lack of evidence for adverse events suggest a weak recommendation for intensive outpatient therapy for DeMarco. A synthesis of the evidence suggests that intervention strategies most likely to be effective are goal-directed training/functional training, task-specific practice of child-set goal-based activities using a motor learning approach, and fitness training for improving fitness.36

Home and Community The family lives in a row home in a city neighborhood. The bathroom and bedrooms are on the second floor. There are two nearby parks within walking distance, and the family frequently visits these parks. DeMarco has one younger sister, age 3 years 2

months. DeMarco will need to take a school bus to his neighborhood school in the fall. The school building is accessible and all of the kindergarten activities are on one floor. Kindergarten is a full day, and the class has two separate gross motor/free play sessions during the day, either in the school gym or on the playground.

Practice Knowledge DeMarco’s physical therapist has been working with him for the past 9 months and possesses the knowledge and skills to implement the intensive program with him. She has been in practice for 11 years and is board certified as a pediatric clinical specialist. She has had some success with intensive intervention with other similar children, but most recently one child did not experience any meaningful improvement after participating in this program.

Information Sharing and Decision Making A synthesis of the evidence suggests that patients are more likely to understand the research evidence when it is presented in a way that is tailored and interactive.51 Therefore DeMarco’s physical therapist prepared a one-page document that summarizes his current status and recent progress toward goals, along with a bulleted summary of evidence for intensive physical therapy programs. The summary indicated that there is no evidence to date to support a change in participation level outcomes following an intensive program and that the overall recommendation is weak. Several potential adverse events were included. After some reflection and discussion, the parents decided to continue with DeMarco’s 2×/week outpatient program and to reconsider the intensive program at a later date.

Summary Pediatric physical therapists continually make difficult, complex clinical decisions as part of their daily routine. Historically, most of

these decisions were based primarily on experience and practice knowledge. Although there has been an ongoing effort toward incorporating research evidence into clinical decisions, practitioners have benefited recently from the development of a number of overarching frameworks aimed at enhancing efficiency and effectiveness with this process. Thoughtful reflection on practice leads to questions that guide ongoing knowledge acquisition, and critical analysis of that new knowledge determines whether and to what extent it is appropriate to integrate that new knowledge into clinical decisions and recommendations. The PICO format may be used for framing clinical questions. Electronic databases and other web-based resources allow the practitioner to efficiently obtain the highest-level evidence available. The 6S system, CEBM levels of evidence, the GRADE recommendation process, and KT strategies aid in ascertaining whether the evidence merits a change in practice and then in implementing that change. Finally, clinical reasoning strategies allow pediatric physical therapists to effectively integrate new knowledge, practice-based expertise, child and family preferences, and the clinical presentation of the individual child and his or her family into an optimal, collaborative, shared decision that should lead to excellent outcomes for that child.

References (Note: Asterisk Indicates Recommended Readings) 1. Ambrose S, Bridges M, DiPietro M, Lovett M, Norman M. How learning works: 7 research-based principles for smart teaching. San Francisco: Josey-Bass; 2010. 2. American Physical Therapy Association: guide to physical therapist practice 3.0. 2014 [website]. Available from: URL:. http://guidetoptpractice.apta.org/ ∗. 3. Andrews J, Schunemann H, Oxman A, et al. GRADE guidelines: 15. Going from evidence to recommendation— determinants of a recommendation’s direction and strength. J Clin Epidemiol. 2013;66:726–735 ∗. 4. Carr J, Mungovan S, Shepherd R, et al. Physiotherapy in

stroke rehabilitation: bases for Australian physiotherapists’ choice of treatment. Physiother Theory Pract. 1994;10:201–209. 5. Cohen J. Statistical power analyses for the behavioral sciences. ed 2. Hillsdale, NY: Lawrence Erlbaum Associates; 1988. 6. Connolly B, Lupinnaci M, Bush A. Changes in attitudes and perceptions about research in physical therapy among professional physical therapist students and new graduates. Phys Ther. 2001;81:1127–1134. 7. Creswell J. Qualitative inquiry & research design: choosing among five approaches. ed 3. Los Angeles: Sage; 2013. 8. DiCenso A, Bayley L, Haynes R.B. Accessing pre-appraised evidence: fine-tuning the 5S model into a 6S model. Evid Based Nurs. 2009;12:99–101 ∗. 9. Fact Sheet. Intensity of service in an outpatient setting for children with chronic conditions. Alexandria, VA: Section on Pediatrics, American Physical Therapy Association; 2012. 10. Fetters L, Figueiredo E, KeaneMiller D, McSweeney D, Tsao C. Critically appraised topics. Pediatr Phys Ther. 2004;16:19–21. 11. Fletcher S. Chairman’s Summary of the Conference. Paper presented at: Continuing education in the health professions: improving healthcare through lifelong learning Bermuda, New York. 2008. 12. Gannotti M, Christy J, Heathcock J, Kolobe T. A path model for evaluating dosing parameters for children with cerebral palsy. Phys Ther. 2014;94:411–421. 13. Glasgow R, Magid D, Beck A, Ritzwoller D, Estabrooks P. Practical clinical trials for translating research to practice: design and measurement recommendations. Med Care. 2005;43:551–557. 14. Graham I, Logan J.B, Harrison M, et al. Lost in Knowledge Translation: time for a map? J Cont Ed Health Prof. 2006;26:13–24. 15. Graham R, Mancher M, Wolman D, Greenfield S, Steinberg E, eds. practice guidelines we can trust. Washington, DC: National Academies Press; 2011.

16. Grol R, Wensing M. What drives change? Barriers to and incentives for achieving evidence based practice. Med J Aust. 2004;180:S57. 17. Guyatt G, Oxman A.D, Vist G, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. Br Med J. 2008;336:924–926. 18. Hack L, Gwyer J. Evidence into Practice: integrating judgment, values, and research. Philadelphia, PA: FA Davis; 2013 ∗. 19. Hammel K, Carpenter C. Evidence-based practice in rehabilitation: informing practice through qualitative research. Edinburgh: Elsevier; 2004. 20. Harris S. How should treatments be critiqued for scientific merit? Phys Ther. 1996;76:175–181. 21. Haynes B, Devereaux P, Guyatt G. Physicians’ and patients’ choices in evidence-based practice. Br Med J. 2002;324:1350. 22. Haynes B. Of Studies, Synthesis, Synopses, Summaries and Sys the 5 S’s evolution of Information services for evidencebased healthcare decisions. Evid Based Nurs. 2007;10:6–7. 23. Horn S. Clinical practice improvement methodology: implementation and evaluation. New York: Faulkner & Gray. 1997. 24. Iles R, Davidson M. Evidence based practice: a survey of physiotherapists’ current practice. Physiother Res Int. 2006;11:93–103. 25. Jette D, Bacon K, Batty C, et al. Evidence-based practice: beliefs, attitudes, knowledge, and behaviors of physical therapists. Phys Ther. 2003;83:786–805. 26. Jewell D. Guide to evidence-based physical therapist practice. ed 3. Burlington, MA: Jones & Bartlett Learning; 2015. 27. Kamwendo K. What do Swedish physiotherapists feel about research? A survey of perceptions, attitudes, intentions, and engagement. Physiother Res Int. 2002;7:23–34. 28. Kaplan S, Coulter C, Fetters L. Physical therapy management of congenital muscular torticollis: an evidence-based clinical practice guideline. Pediatr Phys Ther. 2013;25:348–394. 29. Lillie E, Patay B, Diamant J, Issell B, Topol E, Schork M. The n-of-1 clinical trial: the ultimate strategy for individualizing

medicine? Personalized Med. 2011;8:161–173. 30.

Macedo L, Elkins M, Maher C, Modeley A, Herbert R, Sherrington C. Th was evidence of convergent and construct validity of Physiotherapy Evidence Database quality scale for physiotherapy trials. J Clin Epidemiol. 2010;63:920–925. 31. Maher C, Sherrington C, Herbert R, Moseley A, Elkins M. Reliability of the PEDro scale for rating quality of randomized controlled trials. Phys Ther. 2003;83:713–721. 32. Mattingly C. What is clinical reasoning? Am J Occup Ther. 1991;45:979–986. 33. McEwen I. Writing case reports: a how-to manual for clinicians. ed 3. Alexandria, VA: APTA; 2009 ∗. 34. Miser W. Applying a meta-analysis to daily clinical practice. In: Geyman J, Deyo R, Ramsey D, eds. Evidencebased clinical practice: concepts and procedures. Waltham, MA: Butterworth-Heinemann; 2000:57–64. 35. Moseley A, Herbert R, Maher C, Sherrington C, Elikins M. Reported quality of randomized controlled trials of physiotherapy interventions has improved over time. J Clin Epidemiol. 2011;64:594–601. 36. Novak I, Mcintyre S, Morgan S, et al. A systematic review of interventions for children with cerebral palsy: state of the evidence. Develop Med Child Neur. 2013;55:885–910. 37. Novak I. Evidence to practice commentary: the evidence alert traffic light grading system. Phys Occup Ther Pediatr. 2012;32:256–259 ∗. 38. Rappolt S, Tassone M. How rehabilitation therapists gather, evaluate, and implement new knowledge. J Contin Educ Health Prof. 2002;22:170–180. 39. Rauscher L, Greenfield B. Advancements in contemporary physical therapy research: use of mixed methods designs. Phys Ther. 2009;89:91–100. 40. Research CIoH. About knowledge translation Available from: URL:. http://www.cihr-irsc.gc.ca/e/29418.html. 41. Retsas A. Barriers to using research evidence in nursing

practice. J Adv Nur. 2000;31:599–606. 42. Robeson P, Dobbins M, DeCorby K, Tirilis D. Facilitating access to pre-processed research evidence in public health. BMC Public Health. 2010;10:1–10. 43. Rochette A, Korner-Bitensky N, Thomas A. Changing clinicians’ habits: is this the hidden challenge to increasing best practices? Disabil Rehabil. 2009;31:1790–1794 ∗. 44. Rosenbaum P.L, King S, Law M, King G, Evans J, et al. Family-centered service: a conceptual framework and research review. Physical and Occupational Therapy in Pediatrics. 1998;18(1):1–20. 45. Russell D, Rivard L, Walter S, et al. Using knowledge brokers to facilitate the uptake of pediatric measurement tools into clinical practice: a before-after intervention study. Implementation Sci. 2010;5:1–17. 46. Sackett D, Straus S, Richardson W, Rosenberg W, Haynes R. of evidence and grades of recommendations. Evidence-based medicine: how to practice and teach EBM. Edinburgh: Churchill-Livingstone; 2000:173–176. 47. Salbach N, Jaglal S, KornerBitensky N, Rappolt S, Davis D. Practitioner and organizational barriers to evidence based practice of physical therapists for people with stroke. Phys Ther. 2007;87:1284–1303. 48. Schreiber J, Stern P, Marchetti G, Provident I. Strategies to promote evidence-based practice in pediatric physical therapy: a formative evaluation pilot project. Phys Ther. 2009;89:918–933 ∗. 49. Schreiber J, Marchetti G, Racicot B, Kaminski E. The use of a knowledge translation program to increase use of standardized outcome measures in an outpatient pediatric physical therapy clinic: administrative case report. Phys Ther. 2015;95:613–629 ∗. 50. Thomson-O’Brien M.A, Moreland J. Evidence-based information circle. Physiother Can. 1998;50:171–205. 51. Trevena L, Davey H, Barratt A, Butow P, Caldwell P. A systematic review on communicating with patients about

evidence. J Eval Clin Pract. 2006;12:13–23 ∗. 52. Tunis S, Stryer D, Clancy C. Practical clinical trials: increasing the value of clinical research for decision making in clinical and health policy. JAMA. 2003;290:1624–1632. 53. Turner P, Whitfield T. Physiotherapists’ use of evidence based practice: a cross-national study. Physiother Res Int. 1997;2:17–29. 54. Turner P, Whitfield T. Physiotherapists’ reasons for selection of treatment techniques: a cross-national survey. Physiother Theory Pract. 1999;15:235–246. 55. World Health Organization. International classification of function, disability, and health. Geneva, Switzerland: WHO; 2001 ∗. 56. World Health Organization. International classification of function, disability, and health: children and youth version. Geneva, Switzerland: WHO; 2007.

Measurement Robin Lee Dole, and Joseph Schreiber

Introduction Pediatric physical therapists make numerous clinical decisions each day that should be guided by information gathered from standardized outcome measures. Accurate and reliable data collection regarding an individual child and family is essential for optimal decisions about eligibility for services, intervention strategies, meaningful and appropriate goals, and intensity and duration of services. This data should be shared with children and families in a way that encourages and supports collaborative decision making. Pooled data collection from multiple children can also inform decisions about program effectiveness and need for systemwide practice change. Despite the availability of a wide variety of outcome measures to guide clinical decisions, pediatric physical therapists are not confident with the selection, administration, and interpretation of standardized outcome measures.30,37,67 This lack of confidence is due to barriers that include lack of time to learn and administer tests, limited knowledge about measures and measurement principles, and inadequate training.41,66 The purpose of this chapter is to guide clinicians on the effective use of tests and measures in pediatric physical therapy practice. Information will be provided on measurement principles and psychometrics as critical components of the selection, administration, interpretation, and sharing results of appropriate tests and measures. A variety of single and multi-

item tests and measures will be presented to aid in identification of body structures and function impairments, activity limitations, and participation restrictions in children. Special emphasis will be placed on use of technology to enhance the feasibility of tests and measures within the daily work routine. The American Physical Therapy Association’s (APTA’s) Standards for Tests and Measurements in Physical Therapy Practice states that a measurement is the “numeral assigned to an object, event, or person, or the class (category) to which an object, event, or person is assigned according to rules.”65 Tests and measures are the means of gathering reliable and valid cellular-level to person-level information about the individual’s capacity for, and performance during, movement-related functioning. The appropriate selection of tests and measures for a specific child depends on the goals of the child and family, purpose of the testing, and the psychometric properties and clinical utility of the test.3 Outcomes are the actual results of implementing the plan of care that indicate the impact on functioning. At the level of pathology, body function, and body structure, outcome measures indicate the success of individual interventions during an episode of care. Outcome measures directed toward activity and participation demonstrate the value of physical therapy in helping individuals achieve their identified goals, which are measurable, functionally driven, and time limited and represent the intended results of a plan of care.3 Standardized outcome measures are based on formal descriptions of a conceptual framework and documentation of the development, application, and scoring processes. They are applied within a defined context (e.g., condition, patient characteristics, setting, etc.) and have been reported, critiqued, and substantiated in peer-reviewed forums.61 Throughout this text, the term outcome measures is used synonymously with tests and measures and standardized outcome measures. The purpose of testing is a key consideration for pediatric physical therapists when selecting outcome measures. For example, for some children it is necessary to determine eligibility for physical therapy or other services. This is most often based on comparing the child’s performance to same-aged peers, which would therefore require administration of a discriminative, norm-referenced

outcome measure. A score on a norm-referenced outcome measure is usually expressed as a percentile rank or z-score and therefore identifies children with delays in a specific set of skills as compared to age-matched peers. In other circumstances, eligibility for services has been established, and the focus of testing is on determining a baseline level of performance related to child and family goals. The child can then be retested over time to identify any change that has occurred and whether goals have been achieved. In this scenario, an evaluative, criterion-referenced outcome measure would be most appropriate. A score on a criterion-referenced outcome measure is most often expressed as a percentage or raw score, or as a scaled score. It is also critical that this type of outcome measure be responsive to change and therefore sensitive to the effects of intervention. In addition to determining eligibility and accurately measuring change over time, pediatric physical therapists use outcome measures to predict future performance. The results from these tests aid practitioners in anticipating child and family needs and can provide critical support for clinical decisions related to placement, intervention planning, goal setting, environmental adaptations, bracing and orthotics, adaptive equipment, and child and family educational needs. For example, evidence suggests that the Test of Infant Motor Performance (TIMP)14,33 can predict Peabody Developmental Gross Motor Scale (PDMS-2)56 scores at preschool age and scores on the Bruininks-Oseretsky (BOT-2)10 scores at school age.23,40 Therefore clinicians might expect that infants who score lower on the TIMP are at greater risk for activity and participation restrictions due to suboptimal motor skills. Motor growth curves have been established for children with cerebral palsy based on scores from the Gross Motor Function Measure (GMFM-66).26 These growth curves help clinicians and families estimate a child’s future motor capabilities including how much independence is likely to be achieved.63 Practitioners would need to consult the scientific literature and the test manual to determine whether specific outcome measures might be used for prognostic purposes. Finally, outcome measures may be used to contribute to minimal

data sets and score aggregation as part of program evaluation and health services research. Frequently, these measures are based on self- (or parent/caregiver) report, in contrast to performance-based measures that are based on child performance of a particular skill or task.3 One example of an outcome measure that may be used in this manner is the Patient Reported Outcome Measurement Information System (PROMIS), which is a psychometrically validated, dynamic system to measure patient reported outcomes. The PROMIS initiative is part of the NIH goal to develop systems to support NIH-funded research supported by all of its institutes and centers. PROMIS measures cover physical, mental, and social health and can be used across chronic conditions.12 A similar tool, Outpatient Physical Therapy Improvement in Movement Assessment Log (OPTIMAL), has been developed by the APTA. This tool integrates patient identification of a primary goal of physical therapy. In addition, OPTIMAL’s scoring of the patient’s perceived difficulty and confidence in performing a specific activity can help the physical therapist make a clinical judgment on the severity of the impairment limitation restriction.4 There is potential for use of patient-reported outcome measures to improve quality of care and disease outcomes, to provide patient-centered assessment for comparative effectiveness research, and to enable a common metric for tracking outcomes across providers and medical systems.12

Measurement Principles Norm- Versus Criterion-Referenced Outcome Measures The two main types of standardized tests or measures, with regard to their scoring and interpretation, are those that are norm referenced and those that are criterion referenced.11 When the purpose for using a standardized outcome measure is to compare children to a reference group, for example the child’s same-aged peers, a norm-referenced test will provide such a comparison. When a therapist desires to know how well a child performs on a specified set of knowledge, skills, or abilities, a criterion-referenced test may be most appropriate. Typically, when the desired information is whether the child performs at, below, or above expectations based on their age, a norm-referenced test is required.59 Such tests are commonly used to establish eligibility for therapy services when such qualification standards require that a child be below a certain cut-off score when compared to his or her peers. For example, one way to qualify for early intervention services in the United States under Part C of the Individuals with Disabilities Education Act is to have performance that is well below average for age. For some tests and measures this may be defined as a score that is greater than two standard deviations below the mean for a given age.62 In the case where a child has a known disability and deficits in knowledge, skills, and abilities have already been established or if eligibility for intervention is based on meeting a set of specific skills, a criterion-referenced test may be of benefit. A criterionreferenced test may also be an appropriate choice when the purpose of testing is to show whether a child’s performance of a set of knowledge, skills, or abilities has changed over a specific period of time.11 Such an example would be when a therapist desires to document the changes in functional mobility skills for a child who has been receiving intervention to address these skills. Norm-referenced tests also may be sensitive to changes in knowledge, skills, and abilities over time, but one has to keep in

mind that the scores from those tests are always referenced back to the normed group, which in pediatric practice is typically by age. In a situation where the therapist expects the child to “catch up” to same-aged peers with respect to his or her motor skills, changes in scores on a norm-referenced test may be an appropriate way to make that determination. Conversely, when a child who initially scores lower than average for age when compared to peers and on follow-up testing demonstrates no change in standard score performance, it could be evidence that the child is “keeping pace” with their typical peers even if no progress toward catching up to the age-expectations is made. That child has not made progress toward catching up with his or her peers but has not lost any additional ground either. This type of finding may also be an indication that additional data from a criterion-referenced measure is needed to document whether the child has made progress on important skills without reference to age expectations.

Test Development A brief discussion of how standardized tests are constructed can help illustrate the differences between norm-referenced and criterion-referenced outcome measures. For a more comprehensive review of test development, the reader is referred to the Standards for Educational and Psychological Testing2 and the Handbook of Test Development.20 A measure is considered norm referenced because the test developers seek to create a measure that has enough items to capture the full range of performance on a particular set of knowledge, skills, or abilities and then provide a comparison of how children from the norming group achieve that knowledge, skill, or ability. Test developers also seek to obtain a large enough norming group to record the full range of performance across a variety of relevant demographic variables. Such variables may include age or grade level, gender, ethnicity, race, culture, and level of function. Scores from the norming group are ranked highest to lowest in order to identify average performance based on, in this example, the child’s age.11 Items for criterion-referenced measures are selected because they are well representative of the domain of content to be measured.

For example, for a criterion-referenced measure of gross motor function, the test developers may be less interested in what skills are achieved by a particular age and more concerned about the various elements that contribute to the functional mobility skills of rolling, crawling, cruising, standing, walking, and running. Criterion-referenced measures that are linked to age may do so through standard setting, where individual judgments of or information on expected ages of achievement are the criterion, rather than comparison to a norming group.22 Both normreferenced and criterion-referenced measures result in scores that may be interpreted in a diagnostic, predictive, or evaluative manner. Only norm-referenced measures can be used to compare performance to a population or determine difference when compared to same-aged peers through scores referenced to the normal curve, yielding standard scores, T-scores, z-scores, and percentile ranks (Fig. 2.1).11

Psychometric Properties A standardized outcome measure has a specific set of standards for administration, scoring, and interpretation. By adhering to such standards, the stability of the score or outcome is greatly increased. Stability within one test administrator is considered intrarater reliability and across multiple administrators is termed interrater reliability. The ability of a measure to capture accurately and assess the domain of interest is part of the psychometric property of validity. Both the concepts of reliability and validity, when considering test development, have several levels of complexity. For a more thorough discussion of these concepts the reader is referred to Foundations of Clinical Research: Applications to Practice.59 For consumers of standardized outcome measures, valid use of a test or measure can be ensured when the subject undergoing testing is most like the reference group used in the norming process or population of individuals used to develop and validate the test. According to the test developers, the Gross Motor Function Measure-66 item version (GMFM-66)26 should only be used with children who have a diagnosis of cerebral palsy. The test developers issue this caution because, at the time of publication of

this text, the GMFM-66 has been validated for use only with this population and this measure has been used to develop gross motor curves to assist with making prognoses regarding motor skill abilities based on a child’s Gross Motor Function Classification Scale Level (GMFCS).68 It is important to know how well one’s clinical situation fits with the design and purpose of the test as well as the population for which the test was intended. Another clinical consideration for test validity is the manner in which tests are administered. It is critical for test validity that standardized outcome measures be administered as they were intended, including closely following instructions, using the designated materials, and providing the permitted demonstrations and number of trials that are required of the test.35 Making modifications to a standardized test diminishes the ability to make judgments from the scores obtained, both for comparison to a reference group and for detecting change in performance of the same individual over time. Therapists may feel compelled to make such modifications because they believe the child’s true abilities could be uncovered with such adaptations or that a child’s diagnosis or co-occurring condition prevents the child from showing their true performance given the constraints of the test. One way to address this clinically is to administer the test according to the test specifications, including scoring it appropriately, and if the therapist desires to know how well a child could perform on the same item with some form of modification or additional trials, provide that opportunity after the standardized administration of the item or the test is complete. Do not include the performance of this modified item in the scoring and interpretation of the child’s performance on the test. The information that has been gathered from modification is less a reflection of how well that child performs on the standardized outcome measure than an indication of how that child might respond to intervention or a method of identifying appropriate strategies to address the child’s challenges with a particular skill or ability. One caution here is to refrain from taking specific items from a test and repeatedly practicing those items in therapy or adopting the items as therapy goals for measuring success. Such a practice could also jeopardize the ability to validly measure performance for comparison to a normed

population or to a specific skill criterion. The “Clinical Measurement Practical Guidelines for Service Providers” available through the CanChild Centre for Childhood Disability Research (www.canchild.ca) is a helpful resource for clinicians regarding these issues and their effect on effective use of clinical outcome measures.29

FIG. 2.1 The Normal Distribution.

For outcome measures designed to screen to predict a condition or diagnosis, the properties of specificity, sensitivity, positive and negative predictive values, and likelihood ratios are important factors to consider for selection and interpretation. Two mnemonics that can be helpful for understanding the importance of specificity and sensitivity are SpPIN: measures with high levels of specificity (true positive rate) indicate that a positive test result will rule in the condition or diagnosis; and SnNOUT: measures with high levels of sensitivity (true negative rate) indicate that a negative test result will rule out the condition or diagnosis.20 Ideally, measures designed to predict a later outcome should have acceptable measures of specificity and sensitivity; however, how a measure is used can shed light on interpreting the importance of these properties. For example, clinicians using screening measures to

help identify those premature infants who would most likely be diagnosed with motor impairment or cerebral palsy at some later point might be willing to accept lower levels of specificity but desire higher levels of sensitivity. This risk of overidentifying children (high false positive rate, 1 – specificity) who may later demonstrate motor impairment and therefore be given early intervention is preferable to having high numbers of children for whom the test incorrectly rules out the likelihood of developing cerebral palsy (false negative rate, 1 – sensitivity) and then are not identified or referred for intervention.59 The risk of this happening, of course, is low because it would mean that only the score on a single test would be used to identify a condition or diagnosis when clinically it is best practice to use multiple sources of clinical information for decision making. There is the potential, however, that infants may not meet the threshold for developmental differences and still be at risk for later challenges, and early identification and intervention is desired. Positive and negative predictive values provide an estimate of a test’s feasibility in actually identifying that a child who tests positive or negative actually does or does not have the diagnosis or condition of interest. Positive and negative likelihood ratios indicate how much more likely it is that a child may have a particular diagnosis or condition after testing positive or negative on a predictive test.59 These concepts will be discussed further via an example in the section Analysis and Interpretation.

Computer- and Technology-Aided Measures As computer technology has advanced, options for utilizing more sophisticated test administration and interpretation have been applied to existing pediatric outcome measures and the development of new outcome measures. One way in which technology has enhanced the use of standardized testing is in computer-aided scoring. In this situation, raw scores from a measure are entered into a software program that calculates standard scores, scaled scores, z-scores, percentile ranks, confidence intervals, item maps or other relevant data for interpretation. Such analysis software is specifically applicable to norm-referenced tests

and helps to reduce the potential for human error in reading and interpreting scoring tables from a particular test or measure.69 Some software packages will also print out a report that provides a description of the test, a table of data, and a first-level analysis of the data. Readers should be cautioned that such reports are based solely on the data that are provided and therefore lack the additional clinical data and impression that can only be provided by the therapist administering the test or measure. Examples of commonly used measures that have this computer-aided scoring are the Peabody Developmental Motor Scales-2 (PDMS-2)56 and the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOT-2).10 Computer-adaptive tests are constructed in such a way as to minimize the number of items that need to be completed in order to arrive at an accurate score that would be comparable to the score achieved if the entire test was administered. The test therefore “adapts” to the responses and performance of the individual being tested.11 All items on the assessment are ordered by level of difficulty, and the first item administered is in the middle range of difficulty. From there items are selected for administration and scoring based on the response or performance on the item tested, progressing by either increased or decreased difficulty level as appropriate. These measures also have the benefit of computerbased scoring and first level of interpretation of the data. The United States military has heavily supported the development of computer-adaptive testing. It has been using this method for their Armed Services Vocational Aptitude Battery since 1996.11 Computer-adaptive testing has also been applied to common pediatric assessment tools. An example is the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT), which captures functioning in the four domains of daily activities, mobility, social/cognitive, and responsibility.27 The test developers indicate that the PEDI-CAT is appropriate for all populations of children between the ages of 1 and 21 years and across all settings. The test can be completed by parent or caregiver report or by a practitioner familiar with the child. The PEDI-CAT produces both normed standard scores (percentile and T-scores) and criterionreferenced scaled scores for analysis. The precision version provides a precise score in the quickest fashion and delivers the

fewest number of items delivered per domain, and the comprehensive version delivers more items per domain to ensure a more balanced number of items from each domain. The comprehensive version is required if the production of an item map is desired. Item maps show the test items ordered by level of difficulty, which can aid in interpretation and program planning.27 Another interesting application of computer technology in testing is the Gross Motor Activity Estimator (GMAE), which can be used in conjunction with the GMFM-66.26 The GMFM-66 is a criterionreferenced measure and, as such, the scores derived are considered ordinal in nature. The scores have an order to them in that higher numbers indicate better performance but the intervals between the scores are not necessarily equal distance apart.68 The GMAE provides a manipulation of the scores derived from the GMFM-66, converting those scores to an interval scale. Scores that are considered to be interval can be interpreted differently than scores that are ordinal. When the intervals between two scores are equal distance, it is possible to apply statistical analysis to them and compare scores across individuals.59,68 See the case of Sophia on Expert Consult for an example of interpretation of the GMFM-66 and GMAE scores.

Analysis and Interpretation When choosing tests and measures, therapists should consider the purposes for which they are testing (What type of decision is to be made?), the types of data to be gathered (What information is needed to make that decision?), and the methods to be used to gather the data (How best is the information gathered: by observation, direct assessment of performance, or through self- or caregiver report?). The purpose of testing and the outcome measures that are selected and administered will have a direct impact on the type of analysis and interpretation of results for clinical decision making. Therapists are encouraged to consider collecting data, as appropriate, at all levels of the International Classification of Functioning (ICF).77a

Screening and Prediction When the purpose of testing is to detect the potential for a certain condition or diagnosis either now or in the future, a standardized measure that has been validated for screening or prediction is necessary. Such measures should report the strength of related psychometrics in sensitivity, specificity, positive and negative predictive values, and likelihood ratios. These properties of the measure play a role in selecting appropriate tests to rule or rule out a condition and give an assessment of the strength and quality of the decisions that are made through interpretation of the test results. Spittle et al71 investigated the predictive abilities of two motorrelated outcome measures, the Alberta Infant Motor Scale (AIMS)1 and the Neuro-Sensory Motor Developmental Assessment (NSMDA).48 These tools were used to examine preterm infants at 4, 8, and 12 months (corrected age) and the ability to predict a later diagnosis of cerebral palsy as determined by child’s pediatrician and confirmed by a physical therapist. The outcomes were also reviewed for their ability to identify motor impairment based on performance at age 4 years (corrected age) on the Movement Assessment Battery for Children (MABC-2).46 The specificity related

to identification of impairment on both outcome measures assessed during infancy was high for motor impairments at 4 years as assessed by the MABC-2 and for diagnosis of cerebral palsy at 4 years (ranging from 88% to 95%). Sensitivity for predicting motor impairment on the MABC-2 was low (ranging 38% to 56% depending on the cut-off score used), whereas sensitivity for predicting later diagnosis of cerebral palsy was very high (83% at 4 months and 100% at 8 months and 12 months of age). Recall the earlier discussion of sensitivity and specificity. These measures were highly specific for identifying cerebral palsy and later motor impairment, a positive test resulting in a correct identification of children with the condition or impairment. These measures were also highly sensitive for predicting a later diagnosis of cerebral palsy, a negative test resulted in correct identification of the children who did not have the condition. The lower sensitivity for the MABC-2 is concerning in that there may be children who go unidentified. One has to consider that there are limitations, perhaps, with the MABC-2 as a diagnostic tool because all tests have limitations. The authors of the study note that false positives did occur and that serial outcome measurements during follow-up with children at high risk for motor impairment are important. Positive and negative predictive values (PPVs and NPVs), positive (+LR) and negative likelihood ratios (−LR), and diagnostic accuracy were also reported. Because PPV and NPV take into account the prevalence of the condition under study, these properties provide insight on the clinical utility of the screening measure.59 In the Spittle et al71 example, the NPVs for the AIMS and NSMDA are high (82% to 100%) for their probability in identifying infants who did not have motor impairment as tested on the MABC-2 and did not have diagnosis of cerebral palsy (CP) at age 4. The PPVs, or probability of identifying infants who did have motor impairment as identified by the MABC-2, were higher (54% to 73%) than the PPVs for identifying infants who had a later diagnosis of CP at age 4 (32% to 45%). The study analyzed data on 82 children, of whom only 6 were eventually diagnosed with CP. Just over a quarter had confirmed motor impairment at 70 on the KBIT-2, and parent confirmation of the impact of motor impairment on daily activities. The results showed that almost 30% of the children initially identified with probable DCD did not go on in stage 2 to

demonstrate a significant motor impairment, and about 16% of the children that were not identified during the screening process were later identified as having DCD. Screening processes are not without error and should be used as a part of a system of measurement that identifies difference or diagnosis. The staged approach studied by Missiuna and colleagues45 also helps to illustrate how important it is to collect information from a variety of measures and perspectives in order to enhance clinical decision-making.

Evaluating change If the decision of interest is whether a child has changed in performance over a specified amount of time, either to track the child’s rate of progress or to evaluate the effectiveness of a particular intervention, test results from before and after intervention can be analyzed to help identify change. A measure’s ability to detect such change is often referred to as its responsiveness to change.28 To determine if the change in scores from one administration to another is different enough to be true change, it is important to know the minimal detectable change (MDC) for the measure or the smallest amount of change that is reflective of true change and not that which can be accounted for by measurement or test error.45 Statistical measures are applied to determine the MDC, and most often are reported relative to the confidence interval applied. The MDC90 reflects use of the 90% confidence interval (z score of 1.65); the MDC95 reflects use of the 95% confidence interval (z score of 1.96) in the calculation. The MDC calculation also takes into consideration the coefficient of the measure’s established testretest reliability and the standard error of the measure.28 The standard error of the measure is a reflection of variability or error in estimating a true score from the observed score on a particular measure. When calculating the 90% or 95% confidence interval, the standard error of the measure is a component of that calculation. If the change in scores from two administrations of a measure exceeds the MDC for that measure, one can conclude that the amount of change beyond the MDC is true change from a statistical point of view. Therapists should consult the relevant literature for reports of the MDC when available for the outcome measures they commonly use in practice. Another measure of change is one where clinical meaningfulness is the benchmark for change. The minimal clinical important difference (MCID) has been defined as smallest amount of change that is meaningful from the perspective of a relevant individual, for example a patient or a practitioner. There are multiple ways to determine the MCID; therefore there are some concerns with its use as a measure of meaningful change. The anchor-based method

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determines the average change of those who have been defined as having improved. The distribution-based method typically takes into consideration effect size. A single measure could have more than one MCID reported in the literature, so when applying this analysis, it is vitally important that the method used to determine the MCID be considered because it can be diagnosis, setting, and population specific.17 Iyer, Haley, Watkins and Dumas34 retrospectively reviewed the inpatient rehabilitation charts from 53 children in order to establish the MCID for the original version of the Pediatric Evaluation of Disability Inventory (PEDI).57 An anchor-based method was used with the mean change in scores as identified by clinicians as important when comparing admission and discharge summaries. Each clinician rated the level of improvement noted for each subject on both a 0- to 15-cm visual analog scale (VAS) and a 15-point Likert scale. Both scales had extremes from a great deal worse (−7 on the Likert scale) to a great deal better (+7 on the Likert scale) with the middle (0 on the Likert scale) indicating no change. The results of this study identified an 11-point change in a scaled score on the PEDI as the minimal change that can be deemed important in an inpatient rehabilitation setting. For the same measure Haley and Fragala-Pinkham28 reported the MDC90 to be a 5.1-point scaled score change. It should make sense that the minimal change beyond error is smaller (MDC90 of 5.1 points) than that which might account for clinically important change (MCID of 11 points) A caution with the MCID is that it is likely baseline dependent, meaning that children whose baseline scores are lower performing may need less of a change to be considered meaningful by parents, clinicians, or patients than children whose baseline scores are at the higher end of the performance scale of the measure.75 A caution with the MDC is that measurement error may not be consistent at all levels across the measure’s scaled scores. The standard error of the measure is a component of the 90% confidence interval and therefore a part of the MDC90. Measures that report the standard error of the measure at each point or level of the scale may help offset this concern.28 Examples of how to apply analysis and interpretation with outcome measures at the body system and function, activity, and

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participation levels of the ICF are provided in the case studies on Expert Consult.

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Selection A difficult challenge for pediatric physical therapists is the selection of appropriate tests and measures. As noted above, this selection must be based on the purpose of testing and the goals of the child and family. The history and systems review portions of the physical therapy examination process narrow the focus of the examination and guide practitioners in prioritizing tests and measures to obtain data that will inform collaborative clinical decision-making with the child and family. The ICF also provides an organizational framework for this data collection process. The Tests and Measures tables (eTables 2.1 to 2.4) are organized (based on the ICF) into impairment, single-task, multi-item activity, and multi-item participation outcome measures. Relevant information is provided regarding the appropriate clinical circumstances when a specific test might be used, along with information to support accurate analysis and interpretation. Links for many of the tests are also included and allow the reader to obtain more detailed information to guide selection and interpretation. One additional consideration in selection of tests and measures is the integration of individualized outcome measures into this process. Pediatric physical therapists regularly write individualized outcomes as a way to measure progress toward child and family goals. These outcomes may be at any level of the ICF and should all be related to the parent and child- identified goals at the activity and participation level. Both the Canadian Occupational Performance Measure (COPM)72 and Goal Attainment Scaling (GAS),38,39 included in eTable 2.4, Multi-Item Participation Level Tests and Measures, may be used to more precisely measure change in performance on these outcomes. The COPM requires the child and/or family to rank satisfaction and performance on individualized outcomes on a 0–10 scale. With GAS, each individualized outcome is scaled to five levels of attainment: expected level, two outcomes that are less favorable and two outcomes that are more favorable. In addition, with multiple outcomes a T-score can be calculated such that a score > 50 indicates better-than-anticipated performance. Examples of how the COPM

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and GAS can be integrated into clinical decision making are included in the case studies on Expert Consult.

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Reporting and Sharing Results A key responsibility of therapists when using outcome measures in practice is the obligation to report and share results with a variety of stakeholders and through multiple communication methods. Therapists may report results officially in writing as part of documentation, and these reports are likely shared with other professionals, families and caregivers, third-party payers, and (when appropriate) the child. Therapists are often called on to report verbally at team meetings in early intervention, school, hospital or clinic settings. Whenever reporting and sharing results, therapists should adhere to the responsibilities of test users identified in the Standards for Tests and Measurements in Physical Therapy Practice, including using all relevant and available data with appropriate justification for decision making, recognizing the limitations of tests and measures, and identifying any irregularities in the testing protocol or conditions.65 As routine best practice, therapists should include and share information in ways that are easily understandable by those who will hear or read the report and that allow for collaborative decision-making.77 Reports should include information about the outcome measures administered, tables or narrative outlining the results, and interpretation of the results within the context of the child and family’s needs and goals. Trevena, Davey, Barratt, Butow, and Caldwell73 found that communication tools in most formats (verbal, written, video, provider delivered, computer based) will increase patients’ knowledge and understanding but are more likely to do so if the tools are structured, tailored, and/or interactive. One additional consideration is that some outcome measures may provide age equivalents as a component of analysis of the test results. Therapists should refrain from using age equivalents as a unit of analysis and basis for decision making because age equivalents have significant limitations, including that these scores are ordinal rather than interval, are based on raw scores and not normative or scaled scores, and the likelihood that this data is value laden and therefore easily misinterpreted by children, families, and caregivers.44

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Case Illustrations of Analysis and Interpretation of Examination Data This section presents two separate clinical cases to illustrate the use of outcome measures to support evidence-informed and collaborative clinical decision making. The first, Sophia, focuses on the early life span beginning in the neonatal intensive care unit and continuing into early intervention and the elementary school years. The second, Jacob, focuses on the use of outcome measures to make clinical recommendations for intervention, episodes of care, and referral to other health care providers. The case spans Jacob’s life between ages 4 years 8 months and 14 years, and many of the outcome measures are appropriate for adolescents and adults as well.

Case 1: Sophia Sophia was born at 30 weeks gestational age (GA) via emergency Csection and weighing 3 pounds (1361 grams). She spent 8 weeks in the neonatal intensive care unit (NICU), the first week on mechanical ventilation. At 14 days an ultrasound screening revealed a grade II intraventricular hemorrhage (IVH). The first signs that there may be neuromotor challenges were identified when the NICU team assessed Sophia at 34 weeks postmenstrual age (PMA) using the Qualitative Assessment of Generalized Movements (GM).21,60 This assessment, which requires the tester have formal training, follows a specific protocol for observing infant movements via videotape and classifying those movements (http://general-movements-trust.info/). Sophia’s team also administered the Test of Infant Motor Performance (TIMP) as part of its program to identify infants early who may be at risk for later motor impairment.13,14,33,40, The TIMP assesses functional infant motor behaviors related to posture and movement and can be administered to infants from 34 weeks postconceptual age to 4 months postterm age (or corrected age, CA).14 Sophia’s developmental progress was followed further with the Alberta Infant Motor Scale (AIMS) during NICU follow-up visits at 6 and 12

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months.58 Information on later testing with the Peabody Developmental Motor Scales (PDMS-2), a multi-item assessment of gross and fine motor development, is provided to demonstrate or confirm the presence of motor impairment by age 4 (Table 2.1).14,24

Screening and Prediction How likely is it that Sophia will go on to develop motor impairment? Should intervention be provided?

Eligibility Decisions Is Sophia’s development different enough for her age to warrant the initiation and continuation of early intervention services? Depending on her state’s interpretation of the Individuals with Disabilities Education Act, Sophia may qualify for early intervention services based on her being at risk due to prematurity. If she did not have such a diagnosis, Sophia might qualify based on her developmental status as measured by a standardized outcome measure or by the informed clinical opinion of a practitioner.62 A targeted evaluation team met with the family at their home and administered the Battelle Developmental Inventory, 2nd edition (BDI-2), a comprehensive assessment of developmental status in a variety of relevant domains (Table 2.2).49 ETABLE 2.1

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References 1. Hebert LJ, Maltais DB, Lepage C, Saulnier J, Crete M. Hand-Held Dynamometry Isometric Torque Reference Values for Children and Adolescents. Pediatr Phys Ther. 2015;27(4):414-423. 2. Macfarlane TS, Larson CA, Stiller C. Lower extremity muscle strength in 6- to 8year-old children using hand-held dynamometry. Pediatr Phys Ther. 2008;20(2):128136. 3. Fossang A, Galea MP, McCoy A, Reddidough D, Story I. Measures of muscle and joint performance in the lower limb of children with cerebral palsy. Dev Med Child Neurol. 2003;45:664-670. 4. Yam W, Leung M. Interrater Reliability of Modified Ashworth Scale and Modified Tardieu Scale in Children With Spastic Cerebral Palsy. Journal of Child Neurology.

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2006;21(12):1031-1035. 5. Fowler EG, Staudt LA, Greenberg MB, Oppenheim WL. Selective Control Assessment of the Lower Extremity (SCALE): development, validation, and interrater reliability of a clinical tool for patients with cerebral palsy. Dev Med Child Neurol. 2009;51(8):607-614. 6. Swiggum M, Hamilton ML, Gleeson P, Roddey T, Mitchell K. Pain assessment and management in children with neurologic impairment: a survey of pediatric physical therapists. Pediatr Phys Ther. 2010;22(3):330-335. 7. Younger J, McCue R, Mackey S. Pain Outcomes: A Brief Review of Instruments and Techniques. Curr Pain Headache Rep. 2009;13(1):39-43. 8. Fragala-Pinkham M, O'Neil M, Lennon N, Forman J, Trost S. Validity of the OMNI rating of perceived exertion scale for children and adolescents with cerebral palsy. Dev Med Child Neurol. 2015;Published online ahead of print. 9. Bartlett D, Purdie B. Testing of the Spinal Alignment and Range of Motion Measure: a discriminative measure of posture and flexibility for children with cerebral palsy. Dev Med Child Neurol. 2005;47:739-743. 10. Chen CL, Wu KP, Liu WY, Cheng HY, Shen IH, Lin KC. Validity and clinimetric properties of the Spinal Alignment and Range of Motion Measure in children with cerebral palsy. Dev Med Child Neurol. 2013;55(8):745-750. 11. Butler PB, Saavedra S, Sofranac M, Jarvis SE, Woollacott MH. Refinement, reliability, and validity of the segmental assessment of trunk control. Pediatr Phys Ther. 2010;22(3):246-257.

Mean of Maximal Isometric Torque Values in Nm (SD) for All Muscle Groups of Both Sexes (n = 13 Participants Per Sex Per Age Group) According to Each Age Group (n = 348)a

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Mean torque and standard deviation (SD) values are reported in Nm.

The light gray area shows the change in the trend for the boys to be stronger than girls, whereas the numbers within the dark gray show the more abrupt change in the strength progression in both girls and boys across age groups. c

Significant torque differences between girls and boys for all muscle groups in these

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age groups (P < .0001). From Hebert LJ, Maltais DB, Lepage C, Saulnier J, Crete M. Hand-Held Dynamometry Isometric Torque Reference Values for Children and Adolescents. Pediatr Phys Ther. 2015;27(4):414-423.

Mean of Maximal Isometric Torque Values Normalized to Body Mass in Nm/kg (Standard Deviation [SD]) for All Muscle Groups of Both Sexes (n = 13 Participants Per Sex Per Age Group) According to Each Age Group (n = 348)a

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The light gray area shows the change in trend for the boys to be stronger than girls, whereas the numbers within the dark gray show the more abrupt change in the strength progression in both girls and boys across age groups. b

Mean torque and standard deviation (SD) values are reported in Nm/kg.

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Significant torque differences between girls and boys for all muscle groups in these age groups (P < .0001). d

Significant torque differences between girls and boys for these specific muscle groups in these specific age groups (P < .001). Hebert LJ, Maltais DB, Lepage C, Saulnier J, Crete M. Hand-Held Dynamometry Isometric Torque Reference Values for Children and Adolescents. Pediatr Phys Ther. 2015;27(4):414-423.

Mean ± Muscle Force (lbs) for Children, Aged 6 to 8 years (1-Way ANOVA and Bonferroni Post Hoc Values)

Nonsignificant differences are in bold. ANOVA indícales analysis of variance From Macfarlane TS, Larson CA, Stiller C. Lower extremity muscle strength in 6- to 8-year-old children using hand-held dynamometry. Pediatr Phys Ther. 2008;20(2):128-136.

Mean ± SD Muscle Torque (Nm) for Children, Aged 6 to 8 Years (1Way ANOVA and Bonferroni Post Hoc Values)

Nonsignificant differences are in bold.

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ANOVA indicates analysis of variance. From Macfarlane TS, Larson CA, Stiller C. Lower extremity muscle strength in 6- to 8-year-old children using hand-held dynamometry. Pediatr Phys Ther. 2008;20(2):128-136.

Cutoff Strength Valuses for Torque and Force for 6- to 8-Year-Old Children

From Macfarlane TS, Larson CA, Stiller C. Lower extremity muscle strength in 6- to 8-year-old children using hand-held dynamometry. Pediatr Phys Ther. 2008;20(2):128-136.

ETABLE 2.2 Single Task Activity Level Outcome Measures

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References 1. Knutson LM, Bushman B, Young JC, Ward G. Age expansion of the thirty-second walk test norms for children. Pediatr Phys Ther. 2009;21(3):235-243. 2. Kim C, Son S. Comparison of Spatiotemporal Gait Parameters between Children with Normal Development and Children with Diplegic Cerebral Palsy. Journal of Physical Therapy Science. 2014;26:1317-1319. 3. Stout J. Gait Development and Analysis. In: Campbell S, ed. Physical Therapy for Children. 4th ed. St. Louis, MO: Elsevier; 2012. 4. Alsalaheen BA, Whitney SL, Marchetti GF, et al. Performance of high school adolescents on functional gait and balance measures. Pediatr Phys Ther. 2014;26(2):191-199. 5. Bohannon R, Glenney s. Minimal clinically important difference for change in comfortable gait speed of adults with pathology: a systematic review. Journal of Evaluation in Clinical Practice. 2014;20(4):295-300. 6. Oeffinger D, Bagley A, Rogers S, et al. Outcome tools used for ambulatory children with cerebral palsy: responsiveness and minimum clinically important differences. Dev Med Child Neurol. 2008;50(12):918-925. 7. Lammers A, Hislop A, Flynn Y, Hawarth S. The 6-minute walk test: normal values

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for children of 4-11 years of age. Archives of Disease in Childhood. 2007;93:464468. 8. Goemens N, Klingels K, van den Hause M, et al. Six minute walk test: reference values and prediction equation in healthy boys aged 5-12 years. PLOS 1. 2013;8(12):e84120. 9. Fulk G, Echternach J, Nof L, O’Sullivan S. Clinometric properties of the six-minute walk test in individuals undergoing rehabilitation post stroke. Physiotherapy Theory & Practice. 2008;24(3):195-204. 10. Norman JF, Bossman S, Gardner P, Moen C. Comparison of the energy expenditure index and oxygen consumption index during self-paced walking in children with spastic diplegia cerebral palsy and children without physical disabilities. Pediatr Phys Ther. 2004;16(4):206-211. 11. Rose j, Gamble J, Lee J, Lee R, Haskell W. The energy expenditure index: a method to quantitate and compare walking energy expenditure for children and adolescents. Journal of Pediatric Orthopedics. 1991;11(5):571-578. 12. Wiart L, Darrah J. Test-retest reliability of the energy expenditure index in adolescents with cerebral palsy. Dev Med Child Neurol. 1999;41:716-718. 13. Malina R, Bouchard C, Bar-Or O. Growth, Maturation, and Physical Activity. 2nd ed. Champagn, IL: Human Kinetics; 2004. 14. Held SL, Kott KM, Young BL. Standardized Walking Obstacle Course (SWOC): reliability and validity of a new functional measurement tool for children. Pediatr Phys Ther. 2006;18(1):23-30. 15. Williams E, Carroll S, Reddidough D, Phillips B, Galea MP. Investigation of the timed ‘Up & Go’ test in children. Dev Med Child Neurol. 2005;47:518-524. 16. Nicolini-Panisson RD, Donadio MV. Normative values for the Timed ‘Up and Go’ test in children and adolescents and validation for individuals with Down syndrome. Dev Med Child Neurol. 2014;56(5):490-497. 17. Zaino CA, Marchese VG, Westcott SL. Timed up and down stairs test: preliminary reliability and validity of a new measure of functional mobility. Pediatr Phys Ther. 2004;16(2):90-98. 18. Volkman KG, Stergiou N, Stuberg W, Blanke D, Stoner J. Methods to improve the reliability of the functional reach test in children and adolescents with typical development. Pediatr Phys Ther. 2007;19(1):20-27.

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References 1. Darrah J, Piper M, Watt M. Assessment of gross motor skills of at-risk infants: predictive validity of the Alberta Infant Motor Scale. Dev Med Child Neurol. 1998;40:485-491. 2. Squires J, Twombly E, Bricker D, Potter L. Ages and Stages Questionnaire. 3rd ed. Baltimore, MD: Paul H. Brookes; 2009. 3. Macy M, Bricker D, Squires J. Validity and reliability of a curriculum-based assessment approach to determine eligibility for part C services. Journal of Early Intervention. 2005;28:1-16. 4. Spittle a, Lee K, Spencer-Smith M, Lorefice M, Anderson P, Doyle L. Accuracy of two motor assessments during the first year of life in preterm infants for predicting motor outcome at preschool age. PLos ONE. 2015;10(5). 5. Tieman G, Palisano RJ, Sublive A. Assessment of motor development and function in preschool children. Mental Retardation Developmental Disabilityes Research Review. 2005;11:189-196. 6. Elbaum B, Gattamorta K, Penfield R. Evaluation of the Battelle Developmental Inventory, 2nd edition, screening test for use in state’s child outcomes measurement systems under the Individuals with Disabilities Education Act. Journal of Early

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Intervention. 2010;32:255-273. 7. Newborg J. Battelle Developmental Inventory. 2nd ed. Itasca, IL: Riverside Publishing; 2005. 8. Bruininks R, Bruininks B. The Bruininks-Oseretsky Test of Motor Proficiency. 2nd ed. Circle Pines, MN: AGS Publishing; 2005. 9. Wuang YP, Chwen-Tng S. Reliability and responsiveness of the BruininksOseretsky Test of Motor Proficiency-second edition in children with intellectual disability. Res Dev Disabil. 2009;30:847-855. 10. Maitre N, Slaugher J, Aschner J. Early prediction of cerebral palsy after neonatal intensive care using motor development trajectories in infancy. Early Human Development. 2013;89:781-786. 11. Rosenbaum P, Walter SD, Hanna S, et al. Prognosis for gross motor function in Cerebral Palsy: Creation of motor development curves. Journal of the American Medical Association. 2002;288(11):1357-1363. 12. Hanna SE, Bartlett DJ, Rivard LM, Russell DJ. Reference curves for the Gross Motor Function Measure: percentiles for clinical description and tracking over time among children with cerebral palsy. Phys Ther. 2008;88(5):596-607. 13. Oeffinger D, Bagley A, Rogers S, et al. Outcome tools used for ambulatory children with cerebral palsy: responsiveness and minimum clinically important differences. Dev Med Child Neurol. 2008;50(12):918-925. 14. Miller L. Miller Function & Participation Scales Manual. San Antonio, TX: Harcourt Assessment; 2006. 15. Henderson S, Sugden D, Barnett A. Movement Assessment Battery for Children2, Second Edition (Movement ABC-2): Examiner’s Manual. London: Harcourt Assessment; 2007. 16. Wuang YP, Su JH, Su CY. Reliability and responsiveness of the Movement Assessment Battery for Children-Second Edition Test in children with developmental coordination disorder. Dev Med Child Neurol. 2012;54(2):160-165. 17. Franjoine MR, Darr N, Held SL, Kott K, Young BL. The performance of children developing typically on the pediatric balance scale. Pediatr Phys Ther. 2010;22(4):350-359. 18. Chen CL, Shen IH, Chen CY, Wu CY, Liu WY, Chung CY. Validity, responsiveness, minimal detectable change, and minimal clinically important change of Pediatric Balance Scale in children with cerebral palsy. Res Dev Disabil. 2013;34(3):916-922. 19. Hsiang-Hui W, Hua-Fang L, Ching-Lin H. Reliability, sensitivity to change, and responsiveness of the Peabody Developmental Motor Scales-second edition for children with cerebral palsy. Physical Therapy. 2006;86:1351-1359. 20. Iyer L, Haley S, Watkins M, Dumas H. Establishing minimal clinically important differences for scores on the Pediatric Evaluation of Disability Inventory for inpatient rehabilitation. Physical Therapy. 2003;83(10):888-898. 21. Ko J. Sensitivity to functional improvements of GMFM-88, GMFM-66, and PEDI

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mobility scores in young children with cerebral palsy. Percept Mot Skills. 2014;119(1):305-319. 22. Vos-Vromans D, Ketelaar M, Gorter JW. Responsiveness of evaluative measures for children with cerebral palsy: The Gross Motor Function Measure and the Pediatric Evaluation of Disability Inventory. Disability and Rehabilitation. 2005;27(20):1245-1252. 23. Campbell S, Levy P, Zawacki L, Liao P. Population-based age standards for interpreting results on the Test of Infant Motor Performance. Pediatric Physical Therapy. 2006;18:119-125. 24. Campbell S, Kolobe T, Wright B, Linacre J. Validity of the Test of Infant Motor Performance for prediction of 6-, 9-, and 12-month scores on the Alberta Infant Motor Scale. Dev Med Child Neurol. 2002;44:263-272. 25. Kolobe T, Bulanda M, Susman L. Predicting motor outcome at preschool age for infants tested at 7, 30, 60, and 90 days after term age using the Test of Infant Motor Performance. Physical Therapy. 2004;84:1144-1156.

ETABLE 2.4 Standardized Multi Item Tests at the Participation Level of the ICF

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References 1. Law M, Majnemer A, McColl M, Bosch J, Hanna S, Wilkins S. Home and community occupational therapy for children and youth: A before and after study. Canadian Journal of Occupational Therapy. 2005;53(2):289-297. 2. Sakzewski L, Boyd R, Ziviani J. Clinimetric properties of participation measures for 5- to 13-year-old children with cerebral palsy: a systematic review. Dev Med Child

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Neurol. 2007;49:232-240. 3. Palisano RJ, Copeland WP, Galuppi BE. Performance of physical activities by adolescents with cerebral palsy. Phys Ther. 2007;87(1):77-87. 4. Young N, Williams I, Yoshida K, Wright J. Measurement properties of the Activities Scale for Kids. Journal of Clinical Epidemiology. 2000;53:125-137. 5. Oeffinger D, Bagley A, Rogers S, et al. Outcome tools used for ambulatory children with cerebral palsy: responsiveness and minimum clinically important differences. Dev Med Child Neurol. 2008;50(12):918-925. 6. King GA, McDougall J, Palisano RJ, Gritzan J, Tucker M. Goal Attainment Scaling: Its Use in Evaluating Pediatric Therapy Programs. Phys Occup Ther Pediatr. 1999;19:31-52. 7. Kiresuk T, Sherman R. Goal attainment scaling: A general method for evaluating comprehensive community mental health programs. Mental Health Journal. 1968;4(6):443-453. 8. King S. Evaluating health services delivery to children with chronic conditions and their families: development of a refined measure of processes of care (MPOC-20). Children’s Health Care. 2004;33:35-57. 9. Broderick J, DeWitt E, Rothrock N, Crane P, Forrest C. Advances in PatientReported outcomes: the NIH PROMIS Measures. EGEMS Washington DC. 2013;1(1):1-7. 10. Varni J, Seid M, Kurtin P. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Medical Care. 2001;39(8):800-812.

TABLE 2.1 Various Assessments of Sophia During NICU and Follow-up

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Unless otherwise reported from the literature, z scores, percentiles, and SEM to calculate the 95% CI are available in the measure’s manual. AIMS, Alberta Infant Motor Scale; GM, Prechtl’s General Movements; PDMS-2, Peabody Developmental Motor Scales (2nd edition); TIMP, Test of Infant Motor Performance; TMQ, total motor quotient.

Evaluation of Change of Time How has Sophia’s motor function changed over time? What has been the result of intervention? By the time Sophia reaches school age and enters elementary school, she has officially been diagnosed with cerebral palsy, Gross Motor Classification System level II.54 She qualifies for special education and related services under the Individuals with Disabilities Education Act based on her diagnosis. Her motor function continues to be below age expectations, and that has a direct impact her participation in school. Results of those outcome measures related to motor function as she progresses through elementary school are presented in Table 2.3.

Case 2: Jacob Jacob is a 4-year 8-month-old male with a diagnosis of Down syndrome (DS). He has been referred to outpatient physical therapy by the physical therapist at his preschool due to concerns about his gross motor skill in preparation for his attendance at kindergarten within the next 12 months. Jacob’s mother and father identify improved running, jumping, and ability to safely and efficiently walk up and down the stairs as primary goals. During the initial examination the tests and measures collected are shown in Tables 2.4 to 2.7. Clinical decision: A 6-month episode of care with an emphasis on parent goals. Measures collected during the initial episode of care are shown in Tables 2.8 to 2.10.

Measures collected during this time are shown in Tables 2.11 to 2.13 The decision to continue with a consultation level of service is

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based on a comparison of scores to previous performance and to norms for DS where appropriate. It is important to continue to collaborate with the family on goals and to identify community resources and fitness options.

Measures collected during this episode of care are shown in Tables 2.14 to 2.16 This category reflects the decision for a 6-week episode of care, referral for nutrition counseling, focus on fitness-related goals, and preparation for high school. TABLE 2.2 Results from Two Administrations of the Battelle Developmental Inventory, 2nd Edition (BDI-2), One Year Apart

TABLE 2.3 Results of Outcome Measures through Elementary School

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Unless otherwise reported from the literature, z scores, percentiles, and SEM to calculate the 95% CI are available in the measures manual. GMAE, Gross Motor Activity Estimator; GMFM-66, Gross Motor Function Measure (66 item version); PDMS-2, Peabody Developmental Motor Scales (2nd edition); PEDI-CAT, Pediatric Evaluation of Disability Inventory Computer Adaptive Test; TMQ-Total Motor Quotient.

TABLE 2.4 Jacob Baseline-Impairment Level Data

Quad Muscle Strength- Dynamometer (Newtons) Height (cm) Weight (kg) BMI (kg/m2)

Baseline Score 49 95 12.5 13.8

Interpretation Well below age- and gender-matched norm6 50th percentile 25th percentile 10th percentile

Note: Percentiles are based on the population of children with DS.47

TABLE 2.5

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Jacob Baseline-Single Task Activity Level Data

5× Sit to Stand (sec) 5× Step-ups (sec) 6-Minute Walk (m) Standing Broad Jump (cm) 30-Yard Running Speed (sec) Timed Up and Down Stairs (sec) Timed Up and Go (sec)

Baseline Score 14

Interpretation

30 Refuses due to behavior and cognitive limitations Unable

N/A

16 seconds

Slow, immature, disorganized pattern; norm for age-matched peers is approximately 7 seconds43 Mean TUDS for chronologic age 8–14 years = 0.58 s•step-179

N/A

32 seconds for nine stairs (1.78 seconds/stair) Intermittent reciprocal pattern when ascending, step to pattern when descending, with railing 13.5 seconds

Norm for age-matched peers = 6.59 +/− 1.36 seconds50 Norm for children with Down Syndrome who score 50%–69% on Dimension E of the GMFM = 11.24 +/− 2.47 seconds50

TABLE 2.6 Jacob Baseline- Multi Item Activity Level Data

GMFM 88 Pediatric Balance Scale

Baseline Score 73%∗ 34

Interpretation Low for age and diagnosis55 > 2 standard deviations below mean for age- and gendermatched peers25

∗

GMFM score allows determination of a 34% conditional probability that Jacob will be able to walk up at least two steps from the base of the stairs (alternating feet, without holding on) by age 5 and a 41% conditional probability that he will jump forward (at least 2 inches, both feet simultaneously) by age 5.55

TABLE 2.7 Jacob Initial Episode of Care- Goal Attainment Scaling Information

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TABLE 2.8 Jacob Initial Episode of Care- Impairment

Note: Percentiles are based on the population of children with DS.47

TABLE 2.9 Jacob Initial Episode of Care- Single Task Activity

TABLE 2.10 Jacob Initial Episode of Care- Multi Item Activity

∗

Improvement in goal areas (stairs, running, jumping; GAS T score = 54.57 [score > 50 = better than anticipated change]) along with improvement on GMFM and Pediatric Balance Scale support a change to the consultation service level. Data are provided to the family to share with the school PT; the family is comfortable with the child engaging in community and age-appropriate fitness and recreational opportunities (play in the neighborhood, community swim club, TOPSoccer).

TABLE 2.11 Jacob 6 to 8 Years- Impairment

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TABLE 2.12 Jacob 6 to 8 Years- Single Task Activity

TABLE 2.13 Jacob 6-8 Years- Multi Item Activity

TABLE 2.14 Jacob 14 Years- Impairment

TABLE 2.15 Jacob 14 Years- Single Task Activity

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TABLE 2.16 Jacob 14 Years- Multi Item Activity and Participation

Improvement on COPM and ASK following 6-week intervention program justifies resumption of a consultative level of services.

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References

1. Alberta Infant Motor Scale Available from: URL:. http://www.albertainfantmotorscale.com/. 2. American Educational Research Association. Standards for educational and psychological testing. Washington, DC: American Educational Research Association; 2014. 3. American Physical Therapy Association: guide to physical therapist practice 3.0. Available from: URL: http://guidetoptpractice.apta.org/. 4. American Physical Therapy Association. OPTIMAL 1.1 Data collection instrument Available from: URL:. http://www.apta.org/OPTIMAL/. 5. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. ed 5. Washington, DC: American Psychiatric Association; 2013. 6. Backman E, Odenrick P, Henriksson K, Ledin T. Isometric muscle force and anthropometric values in normal children aged between 3.5 and 15 years. Scand J Rehabil Med. 1982;1:105–114. 7. Barnett A: is there a “movement thermometer” for developmental coordination disorder? Curr Dev Disord Rep 20141:132–139. 8. Barnhart R, Davenport M, Epps S, Nordquist V. Developmental coordination disorder. Phys Ther. 2003;83:722–731. 9. Bosanquet M, Copeland L, Ware R, Boyd R. A systematic review of tests to predict cerebral palsy in young children. Dev Med Child Neurol. 2013;55:418–426. 10. BOT 2. Bruininks-Oseretsky Test of Motor Proficiency, Second Edition Available from: URL:. http://www.pearsonclinical.com/therapy/products/100000648/bru oseretsky-test-of-motor-proficiency-second-edition-bot2.html. 11. Brennan R, ed. Educational measurement (American Council on Education/ Oryx Press Series on Higher Education). Lanham: Maryland: rowan & Littlefield

133

Publishers; 2006. 12. Broderick J, DeWitt E, Rothrock N, Crane P, Forrest C. Advances in patient-reported outcomes: the NIH PROMIS measures. EGEMS. 2013;1:1–7. 13. Campbell S, Kolobe T, Wright B, Linacre J. Validity of the Test of Infant Motor Performance for prediction of 6-, 9-, and 12-month scores on the Alberta Infant Motor Scale. Dev Med Child Neurol. 2002;44:263–272. 14. Campbell S. The Test of Infant Motor Performance. Test user’s manual version 3.0 for the TIMP Version 5. Chicago: Infant Motor Performance Scales; 2012 LLC. 15. Chen C.L, Wu K.P, Liu W.Y, Cheng H.Y, Shen I.H, Lin K.C. Validity and clinometric properties of the Spinal Alignment and Range of Motion Measure in children with cerebral palsy. Dev Med Child Neurol. 2013;55:745–750. 16. Connors 3 Rating Scales Available from: URL:. http://addwarehouse.com/shopsite_sc/store/html/conners3-manual.html. 17. Copay A, Suback B, Glassman S, Polly D, Schuler T. Understanding the minimum clinically important difference: a review of concepts and methods. Spine. 2007;7:541–546. 18. Darrah J, Piper M, Watt M. Assessment of gross motor skills of at-risk infants: predictive validity of the Alberta Infant Motor Scale. Dev Med Child Neurol. 1998;40:485–491. 19. Darsaklis V, Snider L, Majnemer A, Mazer B. Predictive validity of Prechtl’s Method on the Qualitative Assessment of General Movements: a systematic review of the evidence. Dev Med Child Neurol. 2011;53:896–906. 20. Downing S, Haladyna T. Handbook of test development. New York: Routledge; 2006. 21. Einspieler C, Prechtl H. Prechtl’s assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system. Ment Retard Dev D R. 2005;11:61–67. 22. Fein M. Test development: fundamentals for certification and

134

evaluation. Alexandria, VA: ASTD Press; 2012. 23. Flegel J, Kolobe T. Predictive validity of the Test of Infant Motor Performance as measured by the BruininksOseretsky Test of Motor Proficiency at school age. Phys Ther. 2002;82:762–771. 24. Folio M, Fewell R. Peabody Developmental Motor Scales. ed 2. Austin, TX: Pro-Ed Publishers; 2000. 25. Franjoine M.R, Darr N, Held S.L, Kott K, Young B.L. The performance of children developing typically on the pediatric balance scale. Pediatr Phys Ther. 2010;22:350–359. 26. Gross Motor Function Measure Available from: URL:. https://canchild.ca/en/resources/44-gross-motorfunction-measure-gmfm. 27. Haley S, Coster W, Dumas H, FragalaPinkham M, Moed R. Evaluation of Disability Inventory Computer Adaptive Test: development, standardization and administration manual. Boston: Health and Disability Research Institute; 2012. 28. Haley S, Fragala-Pinkham M. Interpreting change scores of tests and measures used in physical therapy. Phys Ther. 2006;86:735–743. 29. Hanna S, Russell D, Bartlett D, Kertoy M, Rosenbaum P, Swinton M. Cl measurement practical guidelines for service providers Available from: URL:. http://www.canchild.ca/en/canchildresources/resources/ClinicalM 30. Hanna S, Russell D, Bartlett D, Kertoy M, Rosenbaum P, Wynn K. Meas practices in pediatric rehabilitation: a survey of physical therapists, occupational therapists, and speech-language pathologists in Ontario. Phys Occup Ther Pediatr. 2007;27:25– 42. 31. Hanna S.E, Bartlett D.J, Rivard L.M, Russell D.J. Reference curves for the Gross Motor Function Measure: percentiles for clinical description and tracking over time among children with cerebral palsy. Phys Ther. 2008;88:596–607. 32. Hay J, Hawes R, Faught B. Evaluation of a screening instrument for developmental coordination disorder. J

135

Adolesc Health. 2004;34:308–313. 33. IMPS: infant Motor Performance Scales Available from: URL:. http://thetimp.com/. 34. Iyer L, Haley S, Watkins M, Dumas H. Establishing minimal clinically important differences for scores on the Pediatric Evaluation of Disability Inventory for inpatient rehabilitation. Phys Ther. 2003;83:888–898. 35. Jette D, Halbert J, Iverson C, Miceli E, Shah P. Use of standardized outcome measures in physical therapy practice: perceptions and applications. Phys Ther. 2009;89:125–133. 36. Kaufman Brief Intelligence Test, Second Edition (KBIT2) Available from: URL:. http://www.pearsonclinical.com/psychology/products/100000390 brief-intelligence-test-second-edition-kbit-2.html. 37. Ketelaar M, Russell D, Gorter J.W. The challenge of moving evidence-based measures into clinical practice: lessons in knowledge translation. Phys Occup Ther Pediatr. 2008;28:191–206. 38. King G.A, McDougall J, Palisano R.J, Gritzan J, Tucker M. Goal attainment scaling: its use in evaluating pediatric therapy programs. Phys Occup Ther Pediatr. 1999;19:31–52. 39. Kiresuk T, Sherman R. Goal attainment scaling: a general method for evaluating comprehensive community mental health programs. Ment Health J. 1968;4:443–453. 40. Kolobe T, Bulanda M, Susman L. Predicting motor outcome at preschool age for infants tested at 7, 30, 60, and 90 days after term age using the Test of Infant Motor Performance. Phys Ther. 2004;84:1144–1156. 41. Law M, King G, Russell D, MacKinnon E, Hurley P, Murphy C. Measur outcomes in children’s rehabilitation: a decision protocol. Arch Phys Med Rehab. 1999;80:629–636. 42. Law M, Majnemer A, McColl M, Bosch J, Hanna S, Wilkins S. Home and community occupational therapy for children and youth: a before and after study. Can J Occupat

136

Ther. 2005;53:289–297. 43. Malina R, Bouchard C, Bar-Or O. Growth, maturation, and physical activity. ed 2. Champaign, IL: Human Kinetics; 2004. 44. Maloney E, Larrivee L. Limitations of age-equivalent scores in reporting the results of norm-referenced tests. Cont Iss Comm Sci Dis. 2007;34:86–93. 45. Missiuma C, Cairney J, Pollock N, et al. A staged approach for identifying children with developmental coordination disorder from the population. Res Dev Disabil. 2011;32:549– 559. 46. Movement Assessment Battery for Children-Second Edition (Movement ABC-2) Available from: URL:. http://www.pearsonclinical.com/therapy/products/100000433/mo assessment-battery-for-children-second-edition-movementabc-2.html. 47. Myrelid A, Gustafsson J, Ollars B, Anneren G. Growth charts for Down syndrome from birth to 18 years of age. Arch Dis Child. 2002;87:97–103. . 48. NSMDA. Physiotherapy assessment for infants & young children Available from: URL:. http://nsmda.com.au/. 49. Newborg J. Battelle Developmental Inventory. ed 2. Itasca, IL: Riverside Publishing; 2005. 50. Nicolini-Panisson R.D, Donadio M.V. Normative values for the Timed ‘Up and Go’ test in children and adolescents and validation for individuals with Down syndrome. Dev Med Child Neurol. 2014;56:490–497. 51. Øberg GK, Jacobsen BK, Jørgensen L. Predictive value of general movement assessment for cerebral palsy in routine clinical practice. Phys Ther. 2015;95:1489–1495. 52. Oeffinger D, Bagley A, Rogers S, et al. Outcome tools used for ambulatory children with cerebral palsy: responsiveness and minimum clinically important differences. Dev Med Child Neurol. 2008;50:918–925. 53. Reference deleted in proofs for 53. 54. Palisano R.J, Rosenbaum P, Bartlett D, Livingstone R. Gross Motor Function Classification System—expanded and revised. Hamilton, Ontario: CanChild Centre for Childhood Disability Research, McMaster University; 2007.

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55. Palisano R.J, Walter S.D, Russell D.J, et al. Gross motor function of children with down syndrome: creation of motor growth curves. Arch Phys Med Rehabil. 2001;82:494– 500. 56. Peabody Developmental Motor Scales, Second Edition (PDMS-2) Available from: URL:. http://www.pearsonclinical.com/therapy/products/100000249/pea developmental-motor-scales-second-edition-pdms-2.html. 57. Pediatric Evaluation of Disability Inventory Available from: URL:. http://www.pearsonclinical.com/childhood/products/100000505/p evaluation-of-disability-inventory-pedi.html. 58. Piper M, Darrah J. Motor assessment of the developing infant. Philadelphia: WB Saunders; 1994. 59. Portney L, Watkins M. Foundations for clinical research: applications to practice. ed 3. New Jersey: Pearson/ Prentice Hall; 2009. 60. Prechtl H. Qualitative changes of spontaneous movements in fetus and preterm infant are a marker of neurological dysfunction. Early Hum Dev. 1990;23:151–158. 61. Riddle D, Stratford P. Is this change real? Interpreting patient outcomes in physical therapy. Philadelphia: FA Davis; 2013. 62. Ringwalt S. Summary table of states’ and territories’ definitions of /criteria for IDEA Part C eligibility. Early Childhood Technical Assistance Center. 2015 Available from: URL:. http://ectacenter.org/topics/earlyid/partcelig.asp. 63. Rosenbaum P, Walter S.,S.H, et al. Prognosis for gross motor function in Cerebral Palsy: creation of motor development curves. JAMA. 2002;288:1357–1363. 64. Rosenbaum P, Walter S.D, Hanna S, et al. Prognosis for gross motor function in Cerebral Palsy: creation of motor development curves. JAMA. 2002;288:1357–1363. 65. Rothstein J, Campbell S, Echternach J, Jette A, Knecht H, Rose S. Standa for tests and measurements in physical therapy practice. Phys Ther. 1991;71:589–622. 66. Russek L, Wooden M, Ekedahl S, Bush A. Attitudes toward standardized data collection. Phys Ther. 1997;77:714–729. 67. Russell D, Rivard L, Walter S, et al. Using knowledge

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brokers to facilitate the uptake of pediatric measurement tools into clinical practice: a before-after intervention study. Implement Sci. 2010;5:1–17. 68. Russell D, Rosenbaum P, Wright M. Gross Motor Function Measure (GMFM-66 and GMFM-88) user’s manual. London: MacKeith Press; 2013. 69. Sampson J. Computer-assisted testing in counseling and therapy. ERIC Digest; 1995 Available from: URL:. https://www.counseling.org/resources/library/ERIC%20Digests/9 26.pdf. 70. Spironello C, Hay J, Missiuma C, Faught E, Cairney J. Concurrent and construct validation of the short form of the BruininksOseretsky Test of Motor Proficiency and the MovementABC when administered under field conditions: implications for screening. Child Care Health Dev. 2010;36:499–507. 71. Spittle A, Lee K, SpencerSmith M, Lorefice M, Anderson P, Doyle L. Accuracy of two motor assessments during the first year of life in preterm infants for predicting motor outcome at preschool age. PLoS One. 2015;10(5):e0125854. 72. The Canadian Occupational Performance Measure Available from: URL:. http://www.thecopm.ca/. 73. Trevena L.J, Davey H.M, Barratt A, Butow P, Caldwell P. A systematic review on communicating with patients about evidence. J Eval Clin Pract. 2006;12:13–23. 74. Venetsanou F, Kambas A, Elinoudis T, Fatouros I, Giannakidou D, Kou Assessment Battery for Children test be the “gold standard” for the motor assessment of children with developmental coordination disorder? Res Dev Disabil. 2011;31:1–10. 75. Wang Y, Hart D, Stratford P, Mioduski J. Baseline dependency of minimal clinically important improvement. Phys Ther. 2011;91:675–688. 76. Wilson B, Crawford S, Green D, Roberts G, Aylott A, Kaplan B. Psychom properties of the Revised Developmental Coordination

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Disorder Questionnaire. Phys Occupat Ther Pediatric. 2009;29:182–202. 77. Workgroup on Principles and Practices in Natural Environments. OSEP TA Community of Practice: part C Settings. Agreed upon mission and key principles for providing early intervention services in natural environments Available from: URL:. http://ectacenter.org/ ∼pdfs/topics/families/Finalmissionandprinciples3_11_08.pdf 77a. World Health Organization. International classification of functioning, disability and health: ICF. Geneva, Switzerland: World Health Organization; 2001. 78. Young N, Williams I, Yoshida K, Wright J. Measurement properties of the Activities Scale for Kids. J Clin Epidemiol. 2000;53:125–137. 79. Zaino C.A, Marchese V.G, Westcott S.L. Timed up and down stairs test: preliminary reliability and validity of a new measure of functional mobility. Pediatr Phys Ther. 2004;16:90–98.

fusion techniques lie with the instrumentation used to obtain correction and protect the fusion. Spinal instrumentation has evolved since Harrington designed the first generation of posterior instrumentation for scoliosis. Harrington rods correct frontal plane deformities but do not allow for sagittal plane correction and do not address the rotatory components of scoliosis. Further, the placement of Harrington rods calls for postoperative bracing.105 The Cotrel-Dubousset (CD) posterior spinal instrumentation (Fig. 8.7) was introduced in the early 1980s and strove for a threedimensional correction of the spinal deformity while avoiding the need for postoperative bracing. A minimum of two parallel rods are used: one on either side of the spine and attached to the spine with hooks or screws. Selective compression or distraction forces may be applied on the rod at any level to correct the deformity.30 Recent articles have questioned the rotational correction of scoliosis using conventional CD instrumentation.70,97,121

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FIG. 8.7 Cotrel-Dubousset instrumentation system

implanted on a plastic spine.

In 1999 a new model called direct vertebral rotation (DVR) was

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introduced. In a prospective study, Lee et al.70 found improved curve correction as well as correction of apical vertebral rotation when patients with AIS underwent DVR as compared with simple rod derotation. The concept of DVR is to apply both a coronal and a rotational correction. Pedicle screw fixation allows a correcting force to be directed opposite the deformity. The addition of DVR provides the rotational plane correction of the deformity in idiopathic scoliosis.70 It is important to treat children with scoliosis while they are still growing, though PSF with instrumentation is generally postponed until the child reaches skeletal maturity in order to preserve spinal growth and ensure adequate space for pulmonary development.14 Growth-sparing techniques have been developed to manage the scoliotic curve while allowing continued growth of the spine in an effort to delay PSF until the child reaches skeletal maturity. Growth-sparing techniques will be discussed in the next few paragraphs. Expandable growing spinal rod technique surgery is indicated for children without bony anomaly of the vertebrae or rib cage and with curve flexibility. The mechanism of distraction yields increased growth of the spine and vertebral column. Serial lengthenings must be performed approximately every 6 months during the growing years. Matsumoto et al.84 report that as the number of rod-lengthening procedures increases, so does the complication rate. Magnetically controlled growing rods (MCGR) have been developed to address this challenge,84 as they allow for gradual distraction from an external device.69 MCGR are now in clinical use and will be an area for further research.84 A surgery performed for patients with congenital scoliosis with fused ribs or thoracic insufficiency syndrome is insertion of vertical expandable prosthetic titanium ribs (VEPTR) with an expansion thoracotomy. In this procedure, one or more rib-to-rib or rib-tospine configurations may be placed.141 Campbell and Hell-Vocke13 concluded that growth of the spine approached normal rates after the insertion of VEPTR, including those with bony bars. They believe that the distraction applied by the prosthesis unloads the concave side of the scoliosis, thereby facilitating growth by the Hueter-Volkmann principle. Smith et al.117 found improvement in

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lung volume and density, suggesting consequential improved pulmonary function. This is of importance because the lungs are rapidly developing during childhood. A tenfold increase in the number of alveoli occurs by adulthood, but most form within the first 8 years of life.54 Complications of VEPTR surgery may include brachial plexus injury and multiple outpatient subsequent lengthenings as the child grows.141 Vertebral stapling procedures and flexible tethering have been studied to treat AIS. Although these implants vary in flexibility, they are mechanically similar in that they restrict unilateral growth of the convex side of a curvature, accomplished by increasing stress over the growth plates of two adjacent vertebrae, then take advantage of remaining spinal growth to allow the concave side to grow and change over time.2,20,28 Several studies have noted that various growth-sparing techniques, whether they be tethering,2,51 growing rods,113 or fusionless devices in general,28 focus on coronal plane correction and do not necessarily correct sagittal or transverse plane deformities. Although this is a clear disadvantage of fusionless devices, the benefit of postponing spinal fusion until the child reaches skeletal maturity often outweighs this limitation. Of note, hospitals are scrutinizing the frequency of readmissions within 90 days of the original surgery because they are now financially accountable for these readmissions under provisions in the Affordable Care Act.56 This will continue to be an area of continued research going forward.

Nonsurgical Interventions Idiopathic curves of less than 25°, curves of nonsurgical magnitude of any type in a skeletally mature patient, and nonprogressive congenital curves are evaluated by clinical examination every 4 to 6 months. Radiographs are obtained at each visit; however, unchanged results of a scoliometer examination may reduce the frequency of radiographs to every other visit, depending on individual physician and institution practice.

Serial casting One technique addressing the treatment of EOS is serial casting. It is theorized that the rapid growth of children in this age group

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inside the constricted environment of the hard cast allows the Hueter-Volkmann principle to take effect, decreasing curve progression by unloading the growth plates on the concave side of the curvature, therefore fostering growth of the spinal column.42 The primary goal of casting is to be a growth friendly modality to enhance thoracic spine growth, allowing for closer-to-normal pulmonary function. During the casting process, children lie on a specially designed frame by the surgeon. Patients are placed under general anesthesia while the plaster or fiberglass cast and traction are applied. The casts are changed every 2 to 3 months.33 Serial casting has been shown to preserve thoracic vertebral height growth at the same velocity as the expected norm, having a positive impact on pulmonary function.4 Authors have reported good results with this technique. In cases of mild to moderate idiopathic EOS with curves of 60° or less, complete resolution has been achieved if started at less than 2 years of age. For older children and for those with more severe curves, recent evidence demonstrates that serial casting may delay surgery, theoretically reducing the potential for complications with recurrent surgical procedures.24 Baulesh et al.4 reported complications from serial casting affected 19% of the children and included nonfatal pulmonary complications that required a break from casting and superficial skin irritation; all complications were resolved without invasive interventions. Hassanzadeh et al.42 state that the effect of casting on pulmonary function is an area meriting further study.

Orthotic management The goal of orthotic management is to alter the natural history of curve progression in AIS. Correction of a frontal plane curvature involves application of force in directions opposite to the natural tendency of the curve. Forces are applied at the apex of the curvature, and opposing forces are applied both above and below it.44 The indication for orthotic use depends on curve type, magnitude, and location. Orthoses are typically prescribed for children with idiopathic scoliosis who are skeletally immature with

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a Risser sign of 0, 1, or 2 and have a curve from 25° to 45°38,60,104 (see Fig. 8.2). A curve with a greater magnitude at the time of detection has an increased risk of progression. Similarly, the effect of an orthosis on prevention of curve progression decreases as the magnitude of the curve increases.61 The Milwaukee brace or cervical-thoracic-lumbar-sacral orthosis (CTLSO) remains the gold standard for idiopathic scoliosis in terms of curve correction (based on mechanics), but it is rarely used today in the United States due, in part, to psychosocial stressors associated with brace wear and limited dosage reported by patients. Additionally, the introduction of the thoracolumbosacral orthosis (TLSO) offers a low-profile option for the treatment of curves with an apex as high as T7.54 There are a number of different TLSO types available, but the goal of the brace design remains the same. Rigid brace design can promote active correction as the patient shifts away from pressure within the brace, or passive correction, preventing curve progression using external forces of the brace on the spine.134 Appropriate force application is a must. An orthotist molds a prefabricated brace to the patient and customizes the orthosis by adding lumbar pads and relief areas to meet the individual’s specific needs. The rigid shell provides a firm support, and the foam lining allows for comfort. A Boston brace is an example of a TLSO and best treats a thoracic curve with an apex of T7 or below.132 A Boston brace may be modified by the addition of an extension on the concave side with lateral pressure from a convex pad to achieve improved control of curves with an apex at T7 to T9.62,132 Other TLSO types include the Wilmington and Charleston models. A Wilmington TLSO is a total-contact, custommolded orthosis that achieves maximal spinal correction by the tight contact and fit, not by pads and relief areas.62 A Charleston orthosis is used for idiopathic curves and is worn only at night because it is fabricated in the position of maximum side-bend correction.101 A recent multicenter trial of the effects of bracing with patients with AIS demonstrated that dosage was the biggest factor when it comes to orthotic management. If a patient wore the brace anywhere from 0–6 hours/day, it was comparable to findings in the observation only group. However, if the patient wore the brace at

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least 12.9 hours/day, it was associated with success rates of 90% to 93%.134 The amount of brace wear was logged using thermal indicators. A relatively high success rate with a brace-wearing schedule well below the previously recommended 23 hours/day would likely contribute to improved patient adherence with the recommended dosage and have a subsequent positive impact on patient outcomes. Margonato et al.83 suggested that bracing appears to limit maximal exercise performance and recommended moderate physical exercise during brace wear to offset the limitations of the cardiovascular, respiratory, and musculoskeletal systems associated with the brace encompassing the rib cage. Frownfelter et al.35 found that wearing a TLSO does restrict pulmonary function both at rest and after exercise in healthy adults and suggested adding an abdominal cut out to the TLSO to ease the work of breathing. Further research would be necessary to monitor spinal stability and ensure curve correction is maintained in patients with AIS when using a TLSO with an abdominal cutout. Orthotic treatment continues until one of two conditions occurs: the curve is no longer controlled (usually at 45° or higher), at which time the patient may become a surgical candidate (treatment failure), or until skeletal maturity occurs, at which time weaning of the brace may begin (treatment success). An orthotic treatment is considered successful if the curve magnitude at the end of treatment is within 5° of the magnitude at the start of the treatment.

Foreground Information Physical Therapy Considerations for Postoperative Management Activity restrictions following spinal fusion surgery are largely anecdotal, although they are often imposed as best practice in an effort to protect the fresh surgical site until the arthrodesis is formed. Activity restrictions are set at the discretion of the orthopedic surgeon and may include avoiding trunk rotation, hip or shoulder flexion greater than 90°, and/or prone activities. A physical therapist’s role in the acute postoperative phase includes

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instruction in body mechanics for bed mobility, transfers, dressing, and ambulation. To avoid trunk rotation, the therapist must instruct the patient in log-rolling and in transitioning from a supine position to sitting without rotation. Shoes and socks are donned or removed with the legs in a “figure four” seated position with negligible forward flexion (patient positioned sitting with the ankle of one leg supported on the distal thigh of the other leg, such that neither lower extremity exceeds hip flexion greater than 90°). If applicable the therapist may also instruct the patient in donning or removing the orthosis while in bed, while from a sidelying to a supine position, or while standing with assistance (if not contraindicated by physician’s orders). For the acute stage, donning or removing of the orthosis in bed is preferable. The patient is instructed in general range of motion and strengthening exercises (without resistance) for the extremities such as ankle pumps to promote circulation, isometric quadriceps contractions, supine hip abduction, heel slides, and isometric gluteal sets. Because the patient’s functional activities for the first two postoperative weeks are limited to showering and walking, the therapist’s role is to encourage ambulation. Not only does this enable the patient to experience fewer side effects from bed rest, it is also beneficial for the development of a strong, healthy fusion mass or arthrodesis. Formal guidelines to return to sport following spinal fusion are not well established in the literature. Lehman, et al.71 surveyed experienced surgeons to better describe the variability in practice. Overall, they found that surgeons will allow earlier return to sports after surgery to correct AIS with the use of pedicle screw constructs as compared to hybrid (a combination of pedicle screws and hooks) and hook constructs. According to the survey, most patients with pedicle screw constructs are permitted to return to running by 3 months, both noncontact (e.g., PE class, swimming) and contact sports (soccer, basketball, volleyball) by 6 months, and collision sports (American football, hockey, rugby) by 12 months postoperatively. There are, however, approximately 20% of respondents who reported that they do not permit patients to return to collision sports, regardless of construct. Further research is merited to establish evidence-based guidelines for return to sport.

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Exercise Currently, research is evaluating the potential for physiotherapy scoliosis-specific exercises (PSSE) to play a role in improvement of postural awareness and subsequent spinal alignment in patients with AIS. The characteristics of PSSE include self-correction, elongation, and chest wall expansion with focus on incorporation of the corrected posture into one’s daily activities of living.52 Different PSSE approaches have emerged including, but not limited to, the Scientific Exercise Approach to Scoliosis (SEAS) in Italy and the Schroth technique from Germany. In an effort to investigate optimal treatment techniques for scoliosis that may include both operative and nonoperative treatment strategies, the SRS supports pilot research studies to critically evaluate the efficacy of PSSE in the treatment of AIS. Together with the Society on Scoliosis Orthopedic and Rehabilitative Treatment (SOSORT), the SRS is evaluating current treatment strategies for scoliosis including bracing, PSSE, and other fusionless treatments. The current stance of the SRS (2014) is that, while some evidence has shown that some PSSE programs are superior to programs with nonspecific exercises, it is too soon to comment on their general applicability. A home exercise program designed to maintain or improve trunk and pelvic strength and flexibility is often prescribed for children with idiopathic or congenital scoliosis. Exercises include spinal stabilization, balance activities, core strengthening, and postural correction, including lateral shifts, flexibility exercises, and respiratory activities. Negrini et al.98 investigated the SEAS protocol. In this approach the patient actively corrects his own posture with a goal of maximal curve correction and follows a specific exercise program designed to increase spinal stability, improve balance reactions, and retain physiologic sagittal spinal curvatures. The Schroth method, introduced in the 1930s, also utilizes a personalized exercise protocol tailored to each patient to achieve maximal postural correction. The Schroth method strives to decrease curve progression, reduce pain, increase vital capacity, and improve posture and appearance.72 The Schroth method has three major contributing concepts: postural correction, correction of breathing patterns, and correction of postural perception. The

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Schroth school believes that in order to affect postural control one must first change his postural perception.135 Initially, Schroth addressed large thoracic spine curves (curves exceeding 70° to 80°),8 but over the past several decades the program has evolved to affect small or moderate curves and to incorporate a focus on activities of daily living (ADLs) training to prevent loss of postural control throughout daily activities.135 Originally, the program was performed over a period of at least 3 months, but recently shorter programs have been developed.8 A 2015 study examined patients with AIS dividing them into 3 groups: a group performing Schroth exercises in a clinical setting under direct supervision of a physiotherapist, a home exercise group, and a control group who were observed. The investigators concluded that the exercise group under direct supervision was superior to a home exercise program or to no treatment at all, the latter two showing curve progression. The authors found that the home exercises may affect change in the lateral plane but without change in the rotation component.7,127 Borysov and Borysov investigated the effect of the Schroth method on the ATR and vital capacity in 34 children with AIS over 7 days. Both ATR and vital capacity were decreased, indicating improvement. These trials demonstrate that physical therapy may have the potential to effect positive change with idiopathic scoliosis. However, these studies and others are preliminary. Researchers have indicated that there are no mid- or long-term studies and more research is needed, which is in agreement with the statement put out by the SRS. The recommendation for the treating therapist is to incorporate exercises including spinal stabilization, balance activities, core strengthening, and postural correction, including lateral shifts, flexibility exercises, and respiratory activities into the plan of care. It is important to note that the Schroth method is copyrighted and certification is required to practice this technique (Fig. 8.8).

Outcomes for Persons with Idiopathic Scoliosis Most people with AIS live functional and normal lives and have a mortality rate similar to that of the general population.130,133

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However, Weinstein et al.130 found that patients with untreated scoliosis not only reported an increased incidence of both chronic and acute back pain but were found to have decreased body image as compared with people of similar age and gender without scoliosis. A Cobb angle greater than 50° at skeletal maturity was identified by Weinstein et al.130 as a strong predictor of decreased pulmonary function. A curvature with a thoracic apex is also associated with shortness of breath.130 Severe thoracic curves, greater than 100°, have been shown to decrease pulmonary function with dyspnea upon exertion leading to probable alveolar hypoventilation and chronic respiratory failure.68 Merola et al.88 studied patients’ status postsurgical correction of AIS and found statistically significant improvements in general selfimage, function from back condition, and level of activity domains as compared with preoperative status but no significant correlation between magnitude of curve correction and outcome scores. Successful outcomes may be correlated with patient perception, such as elimination of the rib hump or restoration of the waistline, rather than focusing on magnitude of curve correction alone.88 The natural history of idiopathic scoliosis continues into adult life because curves can progress after skeletal maturity. Risk of progression depends on curve magnitude and location.79 Curves of greater than 45° at the time of skeletal maturity have a higher risk of progressing and producing complications. Although both thoracic and lumbar curves can progress, progression in the thoracic region may cause more significant complications because of its effects on the cardiopulmonary system. Complications of untreated scoliosis include severe cosmetic deformity and major disability, which may include pain, respiratory insufficiency, or right-sided heart failure.46 Indications for adult treatment include back pain, compromised pulmonary function, psychosocial effects, and an increased risk for premature death. The treatment plan is consistent with that for adolescent idiopathic scoliosis.131

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FIG. 8.8 Adolescent idiopathic scoliosis table of interventions. (Created using data from Steiner WA, Ryser L, Huber E, et al.: Use of the ICF model as a clinical problem-solving tool in physical therapy and rehabilitation medicine. Phys Ther 82:1098-1107, 2002.)

Background Information Neuromuscular Scoliosis In contrast to idiopathic scoliosis, neuromuscular scoliosis is associated with systemic or chronic diseases and often has a rapid progression.96 Neuromuscular curves tend to progress more rapidly and to have more disabling outcomes such as decreased ability to sit, diminished hand function, respiratory compromise due to intercostal muscle weakness,132 and decreased lung capacity53 and are highly associated with pelvic obliquity.125 In the general population the prevalence of scoliosis is 1% to 2% while in cerebral palsy (CP) it has a large variance of 15% to 80%. The variance in those with CP is attributable to age, nature of severity of the neurologic impairment, extent of the physical impairment, and whether the child was positioned in supine versus upright when the x-ray was taken. It has been reported that a scoliosis of at least 40° at maturity is present in 30% of people with quadriplegic CP, 10% of those with diplegia, and 2% of those with hemiplegia.66 See Chapter 19 for more detailed information on cerebral palsy. In Duchenne muscular dystrophy (DMD) the development of

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scoliosis is correlated with the ability to ambulate; ambulators do not develop scoliosis. As children with DMD lose their ability to ambulate and become more dependent on their wheelchairs, a scoliotic curve begins to develop, typically in the thoracolumbar region.95 A correlation between the ability to ambulate and the development of scoliosis has also been noted in those with CP in that the prevalence of scoliosis in nonambulators with total body involvement is also significantly higher than the prevalence in ambulators.125 Scoliosis affects 100% of patients with spinal muscular atrophy (SMA) type II, typically beginning at about 3 years of age. On average, curves are greater than 54° by 10 years of age, typically with a low thoracic C-curve although 17% will develop an S-curve.95 See Chapter 12 for more information on Duchenne muscular dystrophy. The direct cause of neuromuscular scoliosis is not understood; however, Berven and Bradford5 identified asymmetrical paraplegia, mechanical forces, intraspinal and congenital anomalies, sensory feedback, and control of spinal balance by central pathways as possible contributors in children. Disruption in any one of these areas may lead to spinal deformity. The SRS divides neuromuscular scoliosis into two categories: neuropathic (i.e., cerebral palsy [upper motor neuron] or spinal muscular dystrophy [lower motor neuron]) and myopathic (i.e., Duchenne muscular dystrophy).132 Important health issues are associated with neuromuscular conditions that may be influenced by scoliosis. Mullender et al.95 reported in patients with either DMD or SMA type II, scoliosis is related to a decline in pulmonary function and that the decline in vital capacity is part of the natural history of the condition and not necessarily causally related to DMD or SMA type II. Large curves affect the ability to sit, requiring upper extremity propping and large rib prominences can be susceptible to pressure to the skin and may lead to ulceration and pain in children with cerebral palsy.66 An understanding of the orthopedic consequences associated with neuromuscular scoliosis is essential. Physical therapists play an important role in helping to manage and educate families about orthopedic concerns. The curve pattern commonly seen among people with neuromuscular scoliosis is a long C-curve (Fig. 8.9) beginning in the thoracic region and extending into the sacrum.132

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Relationships between the spine, pelvis, and hips have been investigated by several authors. Terjesen, Lange, and Steen122 found that the severity of the curve correlated with the severity of the pelvic obliquity. Studies have reported there may be increased potential for hip subluxation in patients with scoliosis,16,95 while multiple studies have described a link between the direction of a windswept deformity and the curve convexity.66 Therapists should be aware of these potential consequences. Physical therapists should be monitoring spinal and hip range of motion for changes. They can instruct caregivers in positioning, stretches, and active or assistive-active range-of-motion exercises. Changes in seating in the patient’s wheelchair may also be warranted.

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FIG. 8.9 Severe neuromuscular scoliosis.

(From Moe JH,

Winter RB, Bradford DS, et al.: Scoliosis and other spinal deformities. 2nd ed. Philadelphia: WB Saunders, 1987.)

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Surgical Intervention Surgical intervention for neuromuscular scoliosis differs from that for idiopathic scoliosis in several ways. In nonambulatory patients with CP the fusion with instrumentation is extended from the upper thoracic spine into the pelvis in order to obtain curve correction and reduce the risk of recurrent deformity. Improved pelvic alignment can also be achieved when the fusion is extended into the pelvis66 for nonambulators.125 The goals of the spinal fusion are to attain improvement of the deformity, stability of the new spinal shape, and a safe and tolerable surgery.66 Complications in patients undergoing spinal fusion have been shown to be high in children with CP,66,110 occurring in 40% to 80% of patients. Major complications include blood loss, pulmonary compromise, deep wound infection, spinal cord dysfunction, and pseudoarthrosis.66 Death occurs in 1% of patients. Pulmonary function is compromised in up to 25% of patients with neuromuscular scoliosis. It is most commonly seen when preoperative testing demonstrates a forced vital capacity of less than 40%.66,110 Pulmonary function is at increased risk in children with neuromuscular scoliosis for respiratory problems, with pulmonary function being compromised for various reasons that may include weakness and scarring from aspiration or pneumonia. Pulmonary capacity is further compromised in scoliosis. Flexibility of the rib cage is decreased, restricting chest wall excursion when breathing. Organs contained within the thorax are compressed by shortening of the trunk. These changes result in decreased gas exchange and diffusion capacity and ventilation/perfusion imbalance.110 It is important that the treating physical therapist keep these limiting factors in mind and adjust intervention as needed. In children with DMD or SMA the preferred fusion levels are T2 or T3 to L5. Fixation to the sacrum has been associated with loss of function, increased surgery length, and increased blood loss. A more mobile lumbosacral joint may assist functions such as seating and transfers when fusing to L5.95 The recommended surgical approach in this condition is to use the Luque segmental spinal instrumentation (SSI)–Galveston procedure. The Luque SSI procedure uses L-shaped rods surgically fixed at each segment with sublaminar wires forming a more rigid

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fixation in comparison to the Harrington rods due to the correction at each level. The Luque procedure was later modified with the use of intrailiac (Galveston) posts that are long lever arms to reduce lateral bending and flexion-extension movement. This allows the rods to span the sacroiliac joint. Long-term studies have demonstrated that this surgery is efficient and safe in those with DMD. Due to cardiac and respiratory issues it is recommended that spinal fusion be considered earlier than curve progression to 40°. The primary goal of surgery is to stop curve progression to obtain comfortable seating.53 Healing from the spinal fusion takes an extended period of time; the arthrodesis takes 3 to 9 months to be completely healed. Precautions including spinal rotation and hip flexion beyond 90° are not permitted.95 A curve may require both an anterior approach with a discectomy and posterior fusion with instrumentation, although this is no longer the typical surgical approach. The anterior component of the procedure can improve spinal flexibility, minimizing residual curve and helping to achieve a level pelvis in children with CP.66 Studies demonstrate that there is increased blood loss and length of hospital stay, including time spent in the intensive care unit, for combined anteroposterior spinal fusion compared to posterior only procedures.126 The role of the physical therapist is similar to that for postoperative treatment of other curve types. The intervention may have to be modified to adjust to a patient’s motor and cognitive abilities.95 Multiple studies utilizing parent/caregiver questionnaires suggest that spinal fusion surgery is beneficial and has a positive impact on their child’s quality of life for children with neuromuscular scoliosis.87 The parents of children with CP felt that their children had improved trunk balance, sitting, ease of transfers, and personal care.66,125,126

Nonsurgical Intervention Nonsurgical intervention for neuromuscular spinal curvatures includes clinical observation, radiographic examination, and orthotic management.132 Clinical observation allows a thorough assessment of the child’s present and potential function, level of comprehension, and ability to cooperate.32 Mullender et al.95 discuss

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the importance of a well-fitting and supportive seating system as an integral part of the care in this population. This is best addressed by the team approach, including a physical therapist, an occupational therapist, a physician, an equipment vendor, and an orthotist. Please refer to Chapter 33, Assistive Technology, regarding appropriate seating options for this population. The goal of orthotic management in children with neuromuscular scoliosis is to provide support directly to the trunk and possibly aid in simplifying the required seating.66 Studies have demonstrated that the use of a spinal orthotic for a neuromuscular scoliosis does not have an impact on curve progression.89 In DMD, as the spine matures, curve progression is predicted to be 10° per year with the use of bracing.53 Terjesen, Lange, and Steen103 found that, despite this, many families and caregivers have remained pleased with the outcome following TLSO use for 2 years, with improvements in sitting stability and overall function being reported. Orthotic management might include the custom-molded, total-contact TLSO; the underarm TLSO; or the Milwaukee brace.78 Researchers have studied other methods to manage neuromuscular scoliosis. King et al.65 evaluated the effects of daily corticosteroid use on orthopedic outcomes in 143 boys with DMD. They found that those treated with steroids not only demonstrated a decreased prevalence of scoliosis, but they also had decreased magnitude of curvatures as compared with the untreated group. However, 32% of the treated group suffered vertebral compression fractures, a serious adverse effect of corticosteroid therapy. Other researchers have looked at the ability to prolong walking in boys with DMD and have seen some boys walk up to the ages of 13 to 15 years old, therefore slowing the rapid development of scoliosis, but this had not been corroborated.95 Hsu and Quinilvan53 reported that the lordotic posture present in boys with DMD delays development of spinal collapse while ambulatory. Other researchers have studied the effects of intrathecal baclofen (ITB) on curve progression115,116 using matched groups for age, functional impairment, and curve magnitude and concluded that ITB does not have a significant effect on curve progression. Curve progression was found to increase compared with the expected natural history after insertion of ITB pumps in nonambulatory children with quadriplegic cerebral palsy

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and neuromuscular scoliosis.37

Kyphosis Background and Foreground Information A kyphosis is an abnormal posterior convexity of the spine; normal thoracic kyphosis measures 20° to 40° between vertebral segments T5 through T12 with a lumbar lordosis and a Cobb angle typically measuring 20° to 50°.41 A spinal kyphosis may occur as the result of trauma, congenital conditions, or neuromuscular, post-traumatic (tuberculosis), or Scheuermann disease. The most common causes of an abnormal thoracic kyphosis in children and adolescents are Scheuermann disease and poor posture.41 The discussion in this section focuses on congenital kyphosis, postural roundback, and Scheuermann disease.

Congenital Kyphosis Congenital kyphosis is a rare deformity that is typically progressive, consisting of anterior nonsegmentation, centrum deficiencies, and mixed deformities. The exact cause is unknown, although animal studies suggest that there may be a vascular disruption causing centrum defects. Anomalies occur later during the chrondrification and ossification stages of the embryonic period. Additionally, posterior segmentation and block vertebrae defects have been seen. The most frequent defects are multiple hemivertebrae (44%), anterior segment defect (32%), and single hemivertebrae (18%). Up to 60% of patients may have associated anomalies, including the renal and cardiac systems, or sacral agenesis. Congenital kyphosis typically requires surgical intervention and without surgery the progressive natural history will likely lead to paraplegia or cardiac dysfunction. Studies have demonstrated that orthotics are an ineffective treatment modality. Recommendations for surgery may be as young as prior to 3 years old to reduce possible neurologic sequelae. Posterior spinal arthrodesis can be safely completed in patients as young as 6 months of age. The goals of surgery are to stop deformity

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progression that leads to unbalanced growth and anterior decompression that places neural structures at risk. Arthrodesis with a posterior spinal fusion is recommended for deformities less than 50° to 60° and an additional anterior release and arthrodesis for larger deformities. In the immature spine, some spontaneous correction can occur after a posterior arthrodesis due to continued growth in the anterior portion of the vertebral body.64 Basu et al.3 studied the incidence of defects of other organ systems in patients with both congenital kyphosis and scoliosis and found it to be high, concluding that an essential part of patient evaluation is MRI and echocardiography. Zeng Y et al.144 stated that there is an incidence of 20% to 40% of intraspinal anomaly associated with congenital spine deformity and therefore this must also be evaluated. The spine is angled in congenital kyphosis and kyphoscoliosis compressing the rib cage forward on both sides, therefore impairing movement of the diaphragm when this compression occurs in the thoracic spine. A cross-sectional study demonstrated that with a more severe kyphosis, respiratory function became more impaired.85

Postural Roundback Differential diagnosis of Scheuermann disease includes postural roundback. In this condition the thoracic kyphosis is up to 60°. It is flexible and will correct with hyperextension; it is smooth and nonprogressive. There is no disc involvement, and the vertebrae have a normal appearance.124 The hallmark sign that distinguishes postural roundback from Scheuermann disease is a rigid spine.41 Exercise alone as described below for Scheuermann disease is the treatment of choice. If the kyphosis progresses beyond 60°, the patient may be treated with a Milwaukee brace to prevent permanent structural changes.93

Scheuermann Disease Scheuermann disease is a rigid form of postural kyphosis. It often is neglected, developing during childhood and adolescence, and usually is ascribed to poor posture132 resulting in delayed referral to the appropriate clinician, diagnosis, and initiation of treatment.1

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Scheuermann kyphosis is the most common type of kyphosis in the adolescent population. The a rate of incidence ranges from 1% to 8% with nearly equal incidence in males and females.80 Onset typically occurs during the prepubescent growth spurt becoming clinically apparent between the ages of 11 and 14 years of age.41 In most cases progression is slow and stops when axial skeletal growth is completed.34 Diagnosis is made by radiographic criteria including: (1) anterior wedging of 5° or more for at least three or more contiguous vertebrae, (2) narrowing of the intervertebral disc space,76,80 (3) kyphosis greater than 45°124 between vertebral segments T5 and T12 coupled with compensatory cervical and/or lumbar hyperlordosis41 that is uncorrected on active hyperextension,1 and (4) irregular vertebral end plates with Schmorl nodules, which are disc protrusions of the nucleus pulposus through the end plate into the vertebral body appearing as incongruent depressions.9 One third of patients have a mild scoliosis measuring 25° or less with minimal vertebral rotation9,41,124 and varying degrees of spondylolysis and spondylolisthesis.1,9,124 Back pain is an associated component typically occurring at the apex of the kyphosis, but occasionally in the low back. It is commonly aggravated with sitting, standing, and strenuous activities.1 The pain is dull and nonradiating in nature.124 Scheuermann disease also has thoracolumbar and lumbar variants. Gradual disc degeneration may be seen at the apex of the kyphosis9,124 correlating the acute angulation and short segmented curves.124 Further research on the origin of Scheuermann kyphosis is needed. Studies demonstrate a strong genetic prevalence inherited though an autosomal dominant gene confirming a familial aggregation142 with a less significant environmental component.80 Relatives who were examined at age 40 or older presented with osteochondrosis (78%), spondylosis (56%), and arthrosis (33%), all of which are considered to be secondary changes.142 Histologic studies have shown disorganized endochondral ossification, reduced amounts of collagen with thinner fibers, and increases in end plate mucopolysaccharides.80,132 One theory based on examination of the mechanical factors suggests that some kyphosis is likely present from early in life, which leads to vertebral wedging

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caused by anterior pressure exerted upon the vertebrae.132 Clinical findings include tight pectoral, hamstring and iliopsoas muscles,124,132 increased thoracic kyphosis with a compensatory increased lumbar lordosis, and forward head posture. Furthermore, 38% of patients with Scheuermann kyphosis had pain and worked in lighter-duty jobs than controls.80

Intervention Surgical intervention is controversial because of the limited evidence on the natural history of Scheuermann disease. Surgical correction can be recommended for patients with curves greater than 70° that bracing does not control; those with disabling pain that is resistant to nonoperative measures including activity modification and exercises; those who have used anti-inflamatories for at least 6 months; or those who have concerns regarding their appearance.124 Surgical management of a less rigid curve often includes a posterior spinal fusion, although more rigid curves also require an anterior fusion.49,124 Orthotic treatment is used when the kyphosis is between 45° and 65°. A modified Milwaukee-type brace is used. The reported success rate is high in the skeletally immature patient; however, skeletally mature patients do not respond to this treatment.1,49 A modified Milwaukee brace is worn full time (22 hours per day) for 18 months.80 Once patients have reached skeletal maturity, it may be used part-time at night for maintenance. The brace works as a three-point dynamic system and promotes thoracic extension.1,132 Posterior pads apply pressure at the apex of the kyphosis, and pelvic pads stabilize the lumbar spine, decreasing the lordosis.132 Brace use has been shown to decrease vertebral wedging with 12–18 months of full-time wear 22 hours per day followed by part-time wear of 12 hours per day to maintain the correction. Patients allowed 2 to 4 hours out of their brace to participate in sports generally have better acceptability of use of the brace and compromise of curve improvements were not seen.1 It has been observed that the anterior longitudinal ligament may thicken and partial reversal of vertebral wedging may occur with use of a brace.132 Predictors of poor outcomes to bracing include: a rigid kyphosis of greater than 65°, vertebral wedging of greater than 10°,

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and limited or no remaining spinal growth. Whether a scoliosis is present does not impact the outcome of bracing. With appropriate patient selection, kyphosis can be improved. However, even with the most adherent patients, partial correction of an average of 30° can be expected once the brace is discontinued.124 Exercise plays an integral role in the treatment of patients with Scheuermann disease. The prescribed exercises are specific for active trunk extensor strengthening, general postural exercise, and hamstring stretches (Fig. 8.10). Sports that have a trunk extensor component such as volleyball or swimming and aerobic exercise are recommended. The goals of physical therapy are to improve postural alignment and to increase flexibility and extensor strength.132 The progression of the kyphosis is not affected by physical therapy, but it is recommended for symptomatic patients as an adjunct to bracing to prevent increased stiffening of their spines. Studies have demonstrated that pain can be lessened with exercise.124

Lordosis Background and Foreground Information An anterior convexity (or a posterior concavity) of a segment of spine is termed a lordosis. Congenital lordosis is the result of bilateral posterior failure of segmentation.137 Lordosis, both fixed and flexible, may be found in children with a variety of diagnoses. Lordosis in children with myelomeningocele usually occurs in the lumbar spine secondary to use of a tripod gait pattern. A lordosis may develop in the thoracic vertebrae to compensate for an increased lumbar kyphosis.46 Hahn et al.40 stated that a lumbar lordosis facilitates balanced sitting in the DMD population. In children with DMD the postural control muscles are weakened; therefore support for the vertebral column and upright control are affected. Hip flexion contractures, which are often present in individuals with DMD, mechanically pull the pelvis anteriorly, thereby leading to an increased lumbar lordosis. Kerr et al.63 found that lordosis improved stability of the lumbar spine through locking of the articular facet joints.

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Children without motor deficits may have an increased lumbar lordosis. Assessment includes testing of lower extremity ROM, spinal flexibility, trunk and lower extremity strength, posture, and gait. Interventions include abdominal strengthening (curls, crunches, and pelvic lifts), pelvic tilts in supine and standing positions, trunk extensor strengthening, and appropriate lower extremity stretching.

Spondylolysis and Spondylolisthesis Spondylolysis is a defect of the pars interarticularis (Fig. 8.11). Herman, Pizzutillo, and Cavalier48 suggest that upright, bipedal position, genetic predisposition, and repetitive loading of the lumbar spine are possible causative factors. Athletes involved in sports with repetitive hyperextension and rotational loading on the lumbar spine, such as gymnastics and diving, are noted to have a higher incidence of spondylolysis and spondylolisthesis than the general population.15,47 Spondylolisthesis is the forward translatory displacement of one vertebra on another, usually occurring at the fifth lumbar vertebra (see Fig. 8.11). Multiple classification systems have been proposed for spondylolysis and spondylolisthesis; however, the Wiltse-Newman method remains the most widely utilized.15 Five types of spondylolysis and spondylolisthesis have been classified by Wiltse and associates136 as follows:

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FIG. 8.10 (A) Active trunk extensor strengthening by

prone lifts. (B) Lower abdominal strengthening exercises.

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FIG. 8.11 (A) The pars interarticularis is the bony

segment between the inferior and superior articular facets in the lumbar spine. (B) Spondylolysis, depicting a fracture of the pars interarticularis. (C) Depiction of spondylolisthesis, anterior slippage of one vertebra on another. (Courtesy of John Killian, MD, Birmingham, AL.)

Dysplastic malformations develop secondary to congenital malformations of the sacrum and posterior vertebral arch of L5. These malformations may include hypoplasia of the superior surface of the body of S1, hypoplasia-aplasia of the facets, elongation of the pars interarticularis, and spina bifida. The malformations decrease the efficiency of the posterior stabilizing system.136 The degree of slippage is usually severe and may produce neurologic deficits as the laminae of L5 are pulled against the dural sac.50 Isthmic describes spondylolisthesis in the setting of spondylolysis. It describes the anterior slip of a vertebrae relative to the next caudal segment, often occurring at L5 over S1, related to a defect in the pars interarticularis.47 Isthmic is divided into Type II A, lytic-fatigue fracture of the pars, Type II B, elongated but pars intact (pathogenic factors cause elongation of the pars secondary to repeated microfractures that heal with the pars in an attenuatedelongated position),50 and Type II C, acute pars fracture.47 A degenerative type occurs in adults older than age 50 and is caused by the structural destruction of the capsule and ligaments of the posterior joints, producing hypermobility of the segment. A traumatic type, more correctly defined as a fracture, is caused

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by a sudden fracture of the posterior arch of a vertebral segment. The fracture may occur at the pedicle, laminae, or facet, leaving the pars interarticularis intact. Pathologic spondylolisthesis occurs most often secondary to an infectious disease that destroys the posterior arch of the vertebra.136 Dysplastic and isthmic spondylolisthesis types are the most common types seen in the pediatric population. Spondylolisthesis is further described by the degree of severity as characterized by percentage of slippage. According to the Meyerding classification system, grade I is the mildest slippage at less than 25%, grade II is 25% to 50% slippage, grade III is slippage of 50% to 75%, grade IV is 75% to 100% slippage,50,136 and grade V refers to the ptosis of the cranial vertebra.99

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FIG. 8.12 (A) Normal sagittal plane spinal alignment.

(B) Loss of alignment can be visualized after a severe L5 spondylolisthesis. The sacrum becomes vertical, and the resultant lumbosacral kyphosis “pushes” the lumbar spine forward. (C) An unsatisfactory reduction

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occurs when L5 has little mobility and L4 lies anterior to the “anatomic zone” and is kyphotic in relationship to the sacrum. The fusion in this case will be under tension and less likely to hold. (D) A satisfactory reduction occurs when L4 can be placed in the anatomic zone and oriented lordotic in relation to the sacrum. (E) The more L4 can be positioned over the sacrum, the more posterior compressive forces will be directed across the fusion. In this position, sagittal plane alignment and hence deformity will be corrected. (From Moe JH, Winter RB, Bradford DS, et al.: Scoliosis and other spinal deformities. 2nd ed. Philadelphia: WB Saunders, 1987.)

Clinical Symptoms A spondylolisthesis is often an incidental finding, discovered on a radiograph taken for some other purpose. The clinical picture includes poor posture and increased lumbar lordosis in mild slippage. Higher-grade slippage may produce a flattened lumbar spine, a vertically oriented sacrum, and a visible or palpable stepoff at the involved level.47,48 (Fig. 8.12). Symptoms may include low back pain relieved by rest, sciatic-type pain, local tenderness, hamstring spasm or tightness, and, in severe cases, torso shortening.50

Risk of Progression The risk of progression of spondylolysis and low-grade spondylolisthesis is low, occurring in less than 3% of skeletally immature children or adolescents.47 Clinically, adolescents who are symptomatic are at a higher risk for increased slippage during their growth spurt. Females are at greater risk than males, as are patients with increased ligament laxity, including those with Down syndrome or Marfan syndrome. Presently, the best radiographic measure to help guide prognosis appears to be the slip angle.81 Positive slip angles appear as kyphotic slips while negative slip angles appear as lordotic slips.81 Radiographically, dysplastic types or patients with a 50% slippage, with a slip angle greater than 55° (kyphotic) in a skeletally immature patient (normal: −10° to 0°

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[lordotic] as identified by Mac-Thiong and Labelle)82 or with bony instabilities or decreased anatomic stability of L5 and S1 are at greater risk for increased slippage.50,93

Surgical Intervention Indications for surgery include persistent back pain despite conservative measures such as physical therapy, as well as gait deviations, greater than 50% slippage, marked instability of the defect with slip progression, neurologic deficit/radiculopathy, and hamstring contracture.47,50 Surgery is recommended for patients with high-grade spondylolisthesis (grades III–V), even for asymptomatic patients due to the high risk of neurologic compromise if left untreated.81 The goals of surgery are to prevent further slippage, immobilize the unstable segment, prevent further neurologic deficit, relieve any nerve root irritation, and correct clinical symptoms of poor posture, gait, and decreased hamstring length.50 Surgical options include posterolateral arthrodesis, anterior arthrodesis, decompression, and reduction with instrumentation. The surgical procedure most often performed is a bilateral posterolateral arthrodesis in situ. The fusion usually extends from L4 to S1 and is performed with an iliac bone graft.39 Physical therapy is indicated for bed mobility, gait training, and activities of daily living and may be initiated to regain normal hamstring flexibility. A neurologic deficit is the most common reason to perform a decompression. A decompression consists of removal of the bony anatomy that is causing nerve root irritation. The segments are then fused posteriorly to prevent further slippage.128,129 A reduction of the spondylolisthesis is indicated in cases in which the sacrum is in a vertical position, causing a severe lumbosacral kyphosis that displaces the lumbar spine anteriorly (see Fig. 8.12). The result is a marked compensatory lumbar lordosis. An open reduction technique can be anterior or posterior, with or without instrumentation, or a combination of surgical approaches may be used. An anterior fibular strut graft may be used for severe slips.55 Circumferential fusion may also be performed. This technique

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improves stability of the fusion and provides increased surface area for loading the joint surface.82

Nonsurgical Intervention Observation is the treatment of choice with asymptomatic lowgrade spondylolisthesis (less than 50% slippage). These children are routinely followed two times per year with clinical and radiographic examinations. Patients presenting with symptomatic spondylolysis or low-grade spondylolisthesis often respond well to activity restriction, physical therapy, and spinal bracing.47 Upon referral to physical therapy, patients learn lumbar stabilization exercises, in which they are taught to maintain pain-free, neutral alignment of the pelvis and lumbar spine while they vary their positions.100 O’Sullivan et al.100 emphasized the importance of strength training of the transverse abdominis, lumbar multifidus, and internal oblique muscles. They recommended incorporating cocontraction of these stabilizers into functional activities to support the lumbar spine and decrease low back pain in patients with spondylolysis and spondylolisthesis. Exercises may include bridging, wall squats, abdominal strengthening, prone gluteal strengthening, and other stabilization exercises in supine as well as exercises targeting hamstring flexibility. A therapeutic exercise ball may be incorporated into the exercise session to allow patients to achieve and maintain neutral lumbar spine stabilization on a mobile surface. Immobilization using a TLSO is indicated following a stress fracture of the pars or with a well-defined spondylytic defect, although the goals of treatment differ: namely, healing of the pars defect in the former and alleviation of symptoms in the latter. Brace wear ranges from 6 to 12 weeks, depending on the goal of treatment, and may continue for up to 6 months if radiographs reveal incomplete healing of the pars stress injury. Return-to-play guidelines for the young athlete include painless spinal mobility, resolved hamstring spasm and contracture, and return to activities without pain.48 If symptoms persist, surgery is indicated.

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Summary Scoliosis, kyphosis, and lordosis are common pediatric orthopedic conditions of the spine. We, as pediatric physical therapists, often concentrate our therapy for many types of patients on the trunk for midline activities, symmetry, and stability for movement; therefore we can play a vital role in early detection of spinal deformities. We encourage children to become active to improve their cardiorespiratory function, muscle strength, and endurance. We can provide a referral source for families, instruction in home exercises, input for selecting appropriate adaptive equipment and seating, and rehabilitative intervention following injury or surgery. We address issues concerning the spine on a daily basis and play an important role in achieving and maintaining good health by maximizing proper alignment and function.

Case Scenario on Expert Consult The case scenario related to this chapter uses the ICF model to detail the physiology of spondylolysis and spondylolisthesis and to discuss how it impacts a 9-year-old girl’s participation in her daily activities. A video is also included to illustrate the examination and intervention details that can be applied to this case.

References 1. Ali R.M, Green D.W, Patel T.C. Scheurermann’s kyphosis. Curr Opin Pediatr. 2000;11:131–136. 2. Aronsson D.D, Stokes I.A. Nonfusion treatment of adolescent idiopathic scoliosis by growth modulation and remodeling. J Pediatr Orthop. 2011;31(1):S99–S106. 3. Basu P.S, Hazem E. Congenital spinal deformity: a comprehensive assessment at presentation. Spine. 2002;27:2255–2259. 4. Baulesh D.M, Huh J, Judkins T, et al. The role of serial casting in early-onset scoliosis. J Pediatr

616

Orthop. 2012;7(32):658–663. 5. Berven S, Bradford D.S. Neuromuscular scoliosis: causes of deformity and principles for evaluation and management. Semin Neurol. 2002;22:167–178. 6. Reference deleted in proofs. 7. Borysov M, Borysov A. Scoliosis short-term rehabilitation (SSTR) according to ‘best practice’ standards—are the results repeatable? Scoliosis. 2012;7(1). 8. Reference deleted in proofs. 9. Bowles A.O, King J.C. Scheurermann’s disease: the lumbar variant. Am J Phys Med Rehabil. 2004;83:467. 10. Bunnell W. An objective criterion for scoliosis screening. J Bone Joint Surg Am. 1984;66:1381–1387. 11. Burwell R.G. Aetiology of idiopathic scoliosis: current concepts. Pediatr Rehabil. 2003;6:137–170. 12. Reference deleted in proofs. 13. Campbell R.M, Hell-Vocke A.K. Growth of the thoracic spine in congenital scoliosis after expansion thoracoplasty. J Bone Joint Surg Am. 2003;85:409–420. 14. Campbell R.M, Smith M, Mayes T.C, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am. 2003;85(3):399–408. 15. Cavalier R, Herman M.J, Cheung E.V, et al. Spondylolysis and spondylolisthesis in children and adolescents: I. Diagnosis, natural history, and nonsurgical management. J Am Acad Orthop Surg. 2006;14:417–424. . 16. Chan K.G, Galasko C.S.B, Delaney C. Hip subluxation and dislocation in Duchene muscular dystrophy. J Pediatr Orthrop B. 2001;10:219–225. 17. Charles Y.P, Daures J.P, deRosa V, et al. Progression risk of idiopathic juvenile scoliosis during pubertal growth. Spine. 2006;31:1933–1942. 18. Cheung J.P.Y, Samartzis D, Cheung K.M.C. management of early-onset scoliosis. J Bone Joint Surg. 2013:1–5. 19. Cheung W.Y., Luk K.D.K.: classification of adolescent idiopathic scoliosis, Retrieved August 10 (2015). 20. Clin J, Aubin C, Parent S. Biomechanical stimulation and

617

analysis of scoliosis correction using a fusionless intravertebral epiphyseal device. Spine. 2015;40(6):369–376. 21. Congenital scoliosis. Available from: URL: https://www.srs.org/patients-and-families/conditions-andtreatments/parents/scoliosis/early-onsetscoliosis/congenital-scoliosis. 22. Cowell H.R, Hall J.N, MacEwen G.D. Genetic aspects of idiopathic scoliosis. Clinic Orthop. 1972;86:121–132. 23. Czaprowski D, Kotwicki T, Biernat R, et al. Physical capacity of girls with mild and moderate idiopathic scoliosis; influence of the size, length and number of curves. Eur Spine J. 2012;21(6):1099–1105. 24. Demirkiran H.G, Bekmez S, Celilov R, et al. Serial derotation casting in congenital scoliosis and a time-buying strategy. J Pediatr Orthop. 2015;35(1):43–49. 25. Reference deleted in proofs. 26. Dickson R.A, Lawton J.D, Archer J.A, et al. The pathogenesis of idiopathic scoliosis. J Bone Joint Surg Br. 1984;66:8–15. 27. Dobbs M.B, Weinstein S.L. Infantile and juvenile scoliosis. Orthop Clin North Am. 1999;30:331–341. 28. Driscoll M, Aubin C, Moreau A, et al. Biomechanical comparison of fusionless growth modulation corrective techniques in pediatric scoliosis. Med Biol Eng Comput. 2011;49:1437–1445. 29. Drummond D.S. A perspective on recent trends for scoliosis correction. Clin Orthop Rel Res. 1991;264:90–102. 30. Dubousset J, Cotrel Y. Application technique of CotrelDubousset instrumentation for scoliosis deformities. Clin Orthop Rel Res. 1991;264:103–110. 31. Duval-Beaupere G. The growth of scoliosis patients: hypothesis and preliminary study. Acta Orthopaedica Belgica. 1972;38:365–376. 32. Fisk J.R, Bunch W.H. Scoliosis in neuromuscular disease. Orthop Clin North Am. 1979;10:863–875. 33. Fletcher N.D, McClung A, Rathjen K.E, et al. Serial casting as a delay tactic in the treatment of moderate-to-severe earlyonset scoliosis. J Pediatr Orthop. 2012;32(7):664–671. 34. Fotiadis E, Grigoriadou A, Kapetanos G, et al. The role of

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sternum on the etiopathogenesis of Scheurermann’s disease of the thoracic spine. Spine. 2008;33(1):E21–E24. 35. Frownfelter D, Stevens K, Massery M, et al. Do abdominal cutouts in thoracolumbosacral orthoses increase pulmonary function? Clin Orthop Rel Res. 2014;472:720–726. 36. Giampietro P.F, Blank R.D, Raggio C.L, et al. Congenital and idiopathic scoliosis: clinical and genetic aspects. Clin Med Res. 2003;1:125–136. 37. Ginsburg G.M, Lauder A.J. Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. Spine. 2007;32:2745–2750. 38. Green N.E. Part-time bracing of adolescent idiopathic scoliosis. J Bone Joint Surg Am. 1986;68:738–742. 39. Grzegorzewski A, Kumar S.J. In situ posterolateral spine arthrodesis for grades III, IV, and V spondylolisthesis in children and adolescents. J Pediatr Orthop. 2000;20:506–511. 40. Hahn F, Hauser D, Espinosa N, et al. Scoliosis correction with pedicle screws in Duchenne muscular dystrophy. Eur Spine J. 2008;17:255–261. 41. Hart E.S, Merlin G, Harisiades J, et al. Scheuermann’s thoracic kyphosis in the adolescent patient. Orthop Nurs. 2010;29(6):365–371. 42. Hassanzadeh H, Nandyala S.V, Puvanesarajah V, et al. Serial mehta cast utilization in infantile idiopathic scoliosis: evaluation of radiographic predictors. J Pediatr Orthop. 2015;0(0):1–5 Nov 17. Epub ahead of print. 43. Hawasli A.H, Hullar T.E, Dorward I.G. Idiopathic scoliosis and the vestibular system. Eur Spine J. 2015;24(2):227–233. 44. Heary R.F, Bono C.M, Kumar S. Bracing for scoliosis. Neurosurgery. 2008;63:A125–A130. 45. Hedequist D, Emans J. Congenital scoliosis. J Am Acad Orthop Surg. 2004;12:266–275. 46. Herkowitz H.N, Gardfin S.R, Balderson R.A, et al. RothmanSimeone: the spine. Philadelphia: WB Saunders; 1999. 47. Herman M.J, Pizzutillo P.D. Spondylolysis and spondylolisthesis in the child and adolescent: a new classification. Clin Orthop Rel Res. 2005;434:46–54. 48. Herman M.J, Pizzutillo P.D, Cavalier R. Spondylolysis and

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spondylolisthesis in the child and adolescent athlete. Orthop Clin North Am. 2003;34:461–467. 49. Herrera-Soto J.A, Parikh S.N, Al-Sayyad M.J, et al. Experience with combined video-assisted thoracoscopic surgery (VATS) anterior spinal release and posterior spinal fusion in Scheuermann’s kyphosis. Spine. 2005;30:2176– 2181. 50. Herring J.A. Tachdjian’s pediatric orthopedics. ed 3. Philadelphia: WB Saunders; 2002:213–312 323-349, 1279– 1291. 51. Hershman S.H, Park J.J, Lonner B.S. Fusionless surgery for scoliosis. Bull Hosp Jt Dis. 2013;71(1):49–53. 52. Hresko M.T. SRS statement on Physiotherapy Scoliosis Specific Exercises. Scoliosis Research Society. 2014 Available from: URL. www.srs.org. 53. Hsu J.D, Quinlivan R. Scoliosis in Duchene muscular dystrophy (DMD). Neuromuscul Disord. 2013;23(8):611–617. 54. Hsu J.D, Michael J.W, Fisk J.R. AAOS atlas of orthoses and assistive devices. ed 4. Philadelphia: Mosby Elsevier; 2008. 55. Hu S.S, Bradford D.S, Transfeldt E.E, et al. Reduction of high-grade spondylolisthesis using Edwards instrumentation. Spine. 1996;21:367–371. 56. Jain A, Puvanesarajah V, Emmanuel N, et al. Unplanned hospital readmissions and reoperations after pediatric spinal fusion surgery. Spine. 2015;40(11):856–862. 57. Janicki J.A, Alman B. Scoliosis: review of diagnosis and treatment. Paediatr Child Health. 2007;12:771–776. 58. Kaplan K.M, Spivak J.M, Bendo J.A. Embryology of the spine and associated abnormalities. Spine J. 2005;5:564–576. 59. Karol L.A, Johnston C, Mladenov K, et al. Pulmonary function following early thoracic fusion in nonneuromuscular scoliosis. J Bone Joint Surg Am. 2008;90(6):1272–1281. 60. Katz D.E, Durrani A.A. Factors that influence outcome in bracing large curve in patients with adolescent idiopathic scoliosis. Spine. 2001;26:2354–2361. 61. Katz D.E, Richards B.S, Browne R.H, et al. A comparison between the Boston brace and the Charleston bending brace

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in adolescent idiopathic scoliosis. Spine. 1997;22:1302–1312. 62. Kehl D.K, Morrissy R.T. Brace treatment in adolescent idiopathic scoliosis: an update on concepts and technique. Clin Orthop Rel Res. 1988;229:34–43. 63. Kerr T.P, Lin J.P, Gresty M.A, et al. Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne muscular dystrophy: a pilot study. Gait Posture. 2008;28:108–112. 64. Kim Y, Otsuka N.Y, Flynn J.M, et al. Surgical treatment of congenital kyphosis. Spine. 2001;26(20):2251–2257. 65. King W.M, Ruttencutter R, Nagaraja H.N, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology. 2007;68:1607– 1613. 66. Koop S. Scoliosis in cerebral palsy. Dev Med Child Neurol. 2009;51(Suppl l4):92–98. 67. Kostuik J.P. Current concepts review operative treatment of idiopathic scoliosis. J Bone Joint Surg Am. 1990;72:1108–1113. 68. Koumbourlis A.C. Scoliosis and the respiratory system. Paediatr Respir Rev. 2006;7:152–160. 69. LaRosa G, Oggiano L, Ruzzini L. Magnetically controlled growing rods for the management of early-onset scoliosis: a preliminary report. J Pediatr Orthop July 17 (Epub ahead of print). 2015. 70. Lee S.M, Suk S.I, Chung E.R. Direct vertebral rotation: a new technique of three-dimensional deformity correction with segmental pedical screw fixation in adolescent idiopathic scoliosis. Spine. 2004;29:343–349. 71. Lehman R.A, Kang D.G, Lenke L.G, et al. Return to sports after surgery to correct adolescent idiopathic scoliosis: a survey of the Spinal Deformity Study Group. Spine J. 2015;15:951–958. . 72. Lehnert-Schroth C. Introduction to the three-dimensional scoliosis treatment according to Schroth. Physiotherapy. 1992;78:810–815. 73. Lenke L.G. The Lenke classification system of operative adolescent idiopathic scoliosis. Neurosurg Clin North Am. 2007;18(2):199–206.

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74. Lenke L.G. Lenke classification system of adolescent idiopathic scoliosis: treatment recommendations. Instr Course Lect. 2005;54:537–542. 75. Letts RM, Jawadi AH: Congenital spinal deformity. Available from: URL: http://emedicine.medscape.com/article/1260442-overview. 76. Lonner B.S, Newton P, Betz R, et al. Operative management of Scheuermann’s kyphosis in 78 patients: radiographic outcomes, complications, and technique. Spine. 2007;32:2644–2652. 77. Lonstein J.E, Carlson J.M. The prediction of curve progression in untreated idiopathic scoliosis during growth. J Bone Joint Surg Am. 1984;66:1061–1071. 78. Lonstein J.E, Renshaw T.S. Neuromuscular spine deformities: instructional course lectures. vol. 36. St. Louis: Mosby; 1987:285–304. 79. Lonstein J.E, Winter R.B. Adolescent idiopathic scoliosis. Orthop Clin North Am. 1988;19:239–246. 80. Lowe T.G, Line B.G. Evidence based medicine analysis of Scheuermann kyphosis. Spine. 2007;32:S115–S119. 81. Lundine K.M, Lewis S.J, Al-Aubaidi Z, et al. Patient outcomes in the operative and nonoperative management of high-grade spondylolisthesis in children. J Pediatr Orthop. 2014;34(5):483–489. 82. Mac-Thiong J, Labelle H. A proposal for a surgical classification of pediatric lumbosacral spondylolisthesis based on current literature. Eur Spine J. 2006;15:1425–1435. 83. Margonato V, Fronte F, Rainero G, et al. Effects of short term cast wearing on respiratory and cardiac responses to submaximal exercise in adolescents with idiopathic scoliosis. Eura Medicophys. 2005;41:135–140. 84. Matsumoto M, Watanabe K, Hosogane N, et al. Updates on surgical treatments for pediatric scoliosis. J Orthop Sci. 2014;19:6–14. 85. McMaster M.J, Glasby M.A, Singh H, et al. Lung function in congenital kyphosis and kyphoscoliosis. J Spinal Disord Tech. 2007;20(3):203–208. 86. Mehlman C.T. Idiopathic scoliosis Available from:

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URL. http://emedicine.medscape.com/article/1265794overview treatment of adolescent idiopathic scoliosis using the Scoliosis Research Society (SRS) outcome instrument. Spine 27:2046–2051, 2008. 87. Mercado E., Alman B., Wright J.: Does spinal fusion influence quality of life in neuromuscular scoliosis? “multiple studies utilizing parent/caregiver questionnaires...” Spine 32(19) (Suppl):S120–S125, 2007. 88. Merola A.A, Haher T.R, Brkaric M, et al. A multicenter study of the outcomes of the surgical treatment of adolescent idiopathic scoliosis using the Scoliosis Research Society (SRS) outcome instrument. Spine. 2002;27:2046–2051. 89. Miller A, Temple T, Miller F. Impact of orthoses on the rate of scoliosis progression in children with cerebral palsy. J Pediatr Orthop. 1996;16:332–335. 90. Miller N.H. Genetics of familial idiopathic scoliosis. Clin Orthop Rel Res. 2007;462:6–10. 91. Miller N.H. Cause and natural history of adolescent idiopathic scoliosis. Orthop Clin North Am. 1999;30:343–352. 92. Moe J.H, Sundberg A.B, Gustlio R. A clinical study of spine fusion in the growing child. J Bone Joint Surg Br. 1964;46:784–785. 93. Moe J.H, Winter R.B, Bradford D.S, et al. Scoliosis and other spinal deformities. ed 2. Philadelphia: WB Saunders; 1987:162–228 237-261, 347-368, 403–434. 94. Moreau S, Lonjon G, Mazda K, et al. Derotation night-time bracing for the treatment of early onset idiopathic scoliosis. Orthop Traumatol Surg Res. 2014;100(8):935–939. 95. Mullender M.G, Blom N.A, DeKleuver M, et al. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis. 2008;3(14):1–14. 96. Murphy N.A, Firth S, Jorgensen T, et al. Spinal surgery in children with idiopathic and neuromuscular scoliosis. What’s the difference? Spine. 2006;26:216–220. 97. Muschik M, Schlenzka D, Robinson P.N, et al. Dorsal instrumentation for idiopathic adolescent thoracic scoliosis: rod rotation versus translation. Eur Spine J. 1999;8:93–99. 98. Negrini S, Zaina F, Romano M, et al. Specific exercises

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reduce brace prescription in adolescent idiopathic scoliosis: a prospective controlled cohort study with worst-case analysis. J Rehabil Med. 2008;40:451–455. 99. Niggeman P, Kuchta J, Grosskurth D, et al. Spondylolysis and isthmic spondylolisthesis: impact of vertebral hypoplasia on the use of the Meyerding classification. Br J Radiol. 2012;85:358–362. 100. O’Sullivan P.B, Twomey L.T, Allison G.T. Evaluation of specific stabilizing exercise in the treatment of chronic low back pain with radiologic diagnosis of spondylolysis and spondylolisthesis. Spine. 1997;22:2959–2967. 101. Price C.T, Scott D.S, Reed Jr. F.R, et al. Nighttime bracing for adolescent idiopathic scoliosis with the Charleston bending brace: preliminary report. Spine. 1990;15:1294–1299. 102. Puttlitz C.M, Masaru F, Barkley A, et al. A biomechanical assessment of thoracic spine stapling. Spine. 2007;32:756– 761. 103. Reamy B.V, Slakey J.B. Adolescent idiopathic scoliosis: review and current concepts. Am Fam Phys. 2001;64:111–116. 104. Renshaw T.S. Orthotic treatment of idiopathic scoliosis and kyphosis: instructional course lectures. vol. 34. St. Louis: Mosby; 1985:110–118. 105. Renshaw T.S. The role of Harrington instrumentation and posterior spine fusion in the management of adolescent idiopathic scoliosis. Orthop Clin North Am. 1988;19:257–267. 106. Richards B.S, Vitale M.G. Screening for idiopathic scoliosis in adolescents: an information statement. J Bone Joint Surg Am. 2008;90:195–198. 107. Roach J.W. Adolescent idiopathic scoliosis. Orthop Clin North Am. 1999;30:353–365. 108. Roltan D, Nnadi C, Fairbanks J. Scoliosis: a review. Paediatr Child Health. 2013;24(5):197–203 85b. 109. Sanders J.O, D’Astous J, Fitzgerald M, et al. Derotational casting for progressive infantile scoliosis. J Pediatr Orthop. 2009;29(6):581–587. 110. Sarwahi V, Sarwark J.F, Schafer M.F, et al. Standards in anterior spine surgery in pediatric patients with neuromuscular scoliosis. J Pediatr Orthop. 2001;21(6):756–

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760. 111. Sarwark J.F, LaBella C.R. Pediatric orthopaedics and sports injuries: a quick reference guide. ed 2. Elk Grove: American Academy of Pediatrics; 2014. 112. Sarwark J.F, Aubin C.E. Growth considerations of the immature spine. J Bone Joint Surg. 2007;89(Supp 1):8–13. 113. Schroerlucke S.R, Akbarnia B.A, Pawelek J.B, et al. How does thoracic kyphosis affect patient outcomes in growing rod surgery? Spine. 2012;37(15):1303–1309. 114. Scoliosis Research Society. SRS-AAOS position statement. Available from: URL: www.srs.org. 115. Senaran H, Shah S.A, Presedo A, et al. The risk of progression of scoliosis in cerebral palsy patients after intrathecal baclofen therapy. Spine. 2007;32:2348–2354. 116. Shilt J.S, Lai L.P, Cabrera M.N, et al. The impact of intrathecal baclofen on the natural history of scoliosis in cerebral palsy. J Pediatr Orthop. 2008;28:684–687. 117. Smith J.T, Jerman J, Stringham J, et al. Does expansion thoracoplasty improve the volume of the convex lung in a windswept thorax? J Pediatr Orthop. 2009;29:944–947. 118. Staheli L.T. Practice of pediatric orthopedics. ed 4. Philadelphia: Lippincott Williams Wilkins; 2008. 119. Steiner W.A, Ryser L, Huber E, et al. Use of the ICF model as a clinical problem-solving tool in physical therapy and rehabilitation medicine. Phys Ther. 2002;82:1098–1107. 120. Stokes I. Analysis and simulation of progressive adolescent scoliosis by biomechanical growth modulation. Eur Spine J. 2007;16:1621–1628. 121. Suk S.I, Choon K.L, Kim W.J, et al. Segmental pedicle screw fixation in the treatment of thoracic idiopathic scoliosis. Spine. 1995;20:1399–1405. 122. Terjesen T, Lange J.E, Steen H. Treatment of scoliosis with spinal bracing in quadriplegic cerebral palsy. Dev Med Child Neurol. 2000;42:448–454. 123. Thomas C.L, ed. Taber’s cyclopedic medical dictionary. ed 16. Philadelphia: FA Davis; 1989. 124. Tsirikos A.I, Jain A.K. Instructional review: spine Scheuermann’s kyphosis; current controversies. J Bone Jt

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Surg Br 93-B. 2011:857–864. 125. Tsirikos A.I, Chang W, Shah S.A, et al. Preserving ambulatory potential in pediatric patients with cerebral palsy who undergo spinal fusion using unit rod instrumentation. Spine. 2003;28(5):480–483. 126. Tsirikos A.I, Lipton G, Chang W, et al. Surgical correction of scoliosis in pediatric patients with cerebral palsy using unit rod instrumentation. Spine. 2008;33(10):1133–1140. . 127. Kuru T, Yelden I, Dereli E.E, et al. The efficacy of threedimensional Scroth exercises in adolescent idiopathic scoliosis: a randomised controlled clinical trial. Clin Rehabil. 2015;30(2):181–190. 128. Van Rens T.G, Van Horn J.R. Long-term results in lumbosacral interbody fusion for spondylolisthesis. Acta Orthopaedica Scand. 1982;53:383–392. 129. Verbeist H. The treatment of lumbar spondyloptosis or impending lumbar spondyloptosis accompanied by neurologic deficit and/or neurogenic intermittent claudication. Spine. 1979;4:68–77. 130. Weinstein S.L, Dolan L.A, Spratt K.F, et al. Health and function of patients with untreated idiopathic scoliosis: a 50-year natural history study. JAMA. 2003;289:559–567. 131. Weinstein S.L. Adolescent idiopathic scoliosis: prevalence and natural history: instructional course lectures. vol. 38. St. Louis: Mosby; 1989. 132. Weinstein S.L. The pediatric spine: principles and practice. ed 2. Philadelphia: Lippincott Williams Wilkins; 2001. 133. Weinstein S.L, Zavala D.C, Ponseti I.V. Idiopathic scoliosis: long-term follow-up and prognosis in untreated patients. J Bone Joint Surg Am. 1981;63:702–712. 134. Weinstein S.L, Dolan L.A, Wright J.G, et al. Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med. 2013;369(16):1512–1521. 135. Weiss H.R. The method of Katharina Schroth—history, principles, and current development. Scoliosis. 2011;6(17). 136. Wiltse L.L, Newman P.H, MacNab I. Classification of spondylolysis and spondylolisthesis. Clin Orthop. 1976;117:23–29.

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137. Winter R.B. Congenital deformities of the spine. New York: Thieme-Stratton; 1983:6–10 43–49. 138. Winter R.B. Congenital scoliosis. Orthop Clin North Am. 1988;19:395–408. 139. Wong H.K, Hee H.-T, Yu Z, et al. Results of thoracoscopic instrumented fusion versus convention posterior instrumented fusion in adolescent idiopathic scoliosis undergoing selective thoracic fusion. Spine. 2004;29:2031– 2038. 140. Wynne-Davies R. Familial (idiopathic) scoliosis. J Bone Joint Surg Br. 1968;50:24–30. 141. Yazici M, Emans J. Fusionless instrumentation systems for congenital scoliosis: expandable spinal rods and vertical expandable prosthetic titanium rib in the management of congenital spine deformities in the growing child. Spine. 2009;34:1800–1807. 142. Zaidman A.M, Zaidman M.N, Strokova E.I, et al. The mode of inheritance of Scheuermann’s disease. Biomed Res Int. 2013:973716. http://dx.doi.org/10.1155/2013/973716 Epub 2013 Sep 12. 143. Zaouss A.L, James J.I.P. The iliac apophysis and the evolution of curves in scoliosis. J Bone Joint Surg Br. 1958;40:442–453. 144. Zeng Y, Chen Z, Qi Q, et al. The posterior surgical correction of congenital kyphosis and kyphoscoliosis: 23 cases with minimum 2 years follow-up. Eur Spine J. 2013;22(2):372–378.

Suggested Readings Background Campbell R.M, Smith M, Mayes T.C, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am. 2003;85(3):399–408. Cavalier R, Herman M.J, Cheung E.V, et al. Spondylolysis and spondylolisthesis in children and adolescents: i. Diagnosis, natural history, and nonsurgical management. J Am Acad Orthop Surg. 2006;14:417–424.

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Hassanzadeh H, Nandyala S.V, Puvanesarajah V, et al. Serial mehta cast utilization in infantile idiopathic scoliosis: evaluation of radiographic predictors. J Pediatr Orthop. 2015;0(0):1–5 Nov 17. Epub ahead of print. Kaplan K.M, Spivak J.M, Bendo J.A. Embryology of the spine and associated abnormalities. Spine J. 2005;5(5) 564–57. Koumbourlis A.C. Scoliosis and the respiratory system. Paediatr Respir Rev. 2006;7:152–160. McMaster M.J, Glasby M.A, Singh H, et al. Lung function in congenital kyphosis and kyphoscoliosis. J Spinal Disord Tech. 2007;20(3):203–208.

Foreground Ali R.M, Green D.W, Patel T.C. Scheuermann’s kyphosis. Curr Opin Orthop. 2000;11:131–136. Borysov M, Borysov A. Scoliosis short-term rehabilitation (SSTR) according to ‘best practice’ standards—are the results repeatable? Scoliosis. 2012;7(1). Czaprowski D, Kotwicki T, Biernat R, et al. Physical capacity of girls with mild and moderate idiopathic scoliosis; influence of the size, length and number of curves. Eur Spine J. 2012;21(6):1099–1105. Koop S. Scoliosis in cerebral palsy. Dev Med Child Neurol. 2009;51(Suppl 4):92–98. Mullender M.G, Blom N.A, DeKleuver M, et al. A Dutch guideline for the treatment of scoliosis in neuromuscular disorders. Scoliosis. 2008;3(14). Negrini S, Zaina F, Romano M, et al. Specific exercises reduce brace prescription in adolescent idiopathic scoliosis: a prospective controlled cohort study with worst-case analysis. J Rehabil Med. 2008;40:451–455. O’Sullivan P.B, Twomey L.T, Allison G.T. Evaluation of specific stabilizing exercise in the treatment of chronic low back pain with radiologic diagnosis of spondylolysis and spondylolisthesis. Spine. 1997;22:2959– 2967. Roltan D, Nnadi C, Fairbanks J. Scoliosis: a review. Paediatr Child Health. 2013;24(5):197–203 85b. Tsirikos A.I, Jain A.K. Instructional review: spine Scheuermann’s kyphosis; current controversies. J Bone Joint Surg Br 93-B. 2011:857–864. Weinstein S.L, Dolan L.A, Wright J.G, et al. Effects of bracing in adolescents with idiopathic scoliosis. N Engl J Med. 2013;369(16):1512–1521.

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Congenital Muscular Torticollis Sandra L. Kaplan, Barbara Sargent, and Colleen Coulter

Congenital muscular torticollis (CMT) and cranial deformation (CD) are commonly seen in infants at birth or soon after. CMT results from unilateral shortening of the sternocleidomastoid (SCM) muscle and is named for the side of the involved SCM muscle. It is characterized by a lateral head tilt toward and chin rotation away from the involved side. Fig. 9.1 illustrates a right CMT with head tilt to the right and rotation of the chin to the left secondary to a tight right SCM. Reports of incidence vary from 0.3% to 16% of newborns.143 It is the third most common congenital musculoskeletal condition after hip dislocation and clubfoot.17 CMT is associated with mandibular asymmetry, craniofacial asymmetry including deformational plagiocephaly,26,165 eye and mouth displacement,26 scoliosis,13,21 brachial plexus injury,10 pelvic asymmetry, congenital hip dysplasia, foot deformity,26 muscle109 and functional asymmetry,13 and greater use of related services in early school years.158 Synonyms for CMT include fibromatosis colli, wry neck, or twisted neck.74 CD is a distortion of the shape of the skull resulting from mechanical forces that occur pre- or postnatally.127 It is different from craniosynostosis, defined as cranial asymmetry resulting from premature closure of one or more of the cranial sutures.72 CD is a coexisting impairment in up to 90.1%26 of infants with CMT and

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increases the risk of facial,7 ear,7,99 and mandibular asymmetry.73,140 Prevalence of CD is age dependent and ranges from 6%160 to 61%143 at birth, 16%61 to 46.6%98 from 1.5 to 4 months, 6.8% at 1 year,61 3.3% at 2 years61 and 2% at 12–17 years.126 Synonyms for CD include positional deformation, deformational cranial flattening, or nonsynostotic head asymmetry. Physical therapy intervention is highly effective in resolving CMT and CD when initiated early in infancy.86,120 This chapter discusses the etiology and pathophysiology, screening and examination, intervention, and expected outcomes for CMT and CD.

Background Information Anatomy of the Sternocleidomastoid Muscle and Cranium The SCM illustrated in Fig. 9.2 has two major palpable bands: the medial band originates at the manubrium of the sternum and the lateral band originates from the medial third of the clavicle, with both joining to insert on the ipsilateral mastoid process and the superior nuchal line of the cranium.102 The SCM muscle is innervated by the second and third cervical nerves for sensation; the spinal portion of the accessory nerve provides motor innervation to both the SCM and the upper trapezius muscle. Infants with CMT present with unilateral tightness of the SCM, a possible mass or nodule in the muscle and may also have ipsilateral restrictions or tightness of the upper trapezius muscle.116 The trapezius is a synergist of the ipsilateral SCM muscle for lateral head tilt, and it elevates the scapula. The contour of the upper part of the neck is formed by the fibers of the SCM muscle, and the contour of the lower part of the neck is formed by the fibers of the trapezius muscle. An infant’s cranium is composed of bone plates (frontal, occipital, parietal, temporal) that are separated by fibrous sutures (coronal, lambdoid, metopic, sagittal, squamosal) and fontanelles (anterior, mastoid, posterior, sphenoid), which are soft membrane–covered spaces, often referred to as soft spots. Open sutures and fontanelles,

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illustrated in Fig. 9.3, give the infant’s cranium flexibility to pass through the birth canal and to expand in response to pressure exerted by the rapidly growing infant brain. Head circumference increases considerably over the first year of life: approximately 2 cm per month in the first 3 months, 1 cm per month between 4 and 6 months, and 0.5 per month from 6 to 12 months.57 Approximately 70% to 80% of skull growth occurs by 2 years of age, and the remaining growth occurs slowly into adulthood.104

Etiology and Pathophysiology of CMT The etiology of CMT has been attributed to prenatal, perinatal, and postnatal factors. Prenatal factors that might cause CMT include ischemic injury based on abnormal vascular patterns or head position in utero leading to compartment syndrome,37 intrauterine crowding or persistent malpositioning,79 rupture of the muscle, infective myositis,158 and hereditary factors.138,153 Perinatal factors may include birth trauma from breech presentations or assisted deliveries.79,146 Postnatal factors associated with CMT, but not necessarily causative, include the presence of hip dysplasia,163 positional preference,14 and the presence of deformational plagiocephaly.38 There are no clear correlations with pre- or perinatal factors and the severity of the CMT that an infant will develop. Histologic tissue changes of the SCM in infants with CMT include excessive fibrosis, hyperplasia, and atrophy.24 The degree of fibrosis evident on ultrasound may fluctuate with age but typically decreases over time.89 In some infants a palpable nodule, illustrated in Fig. 9.4, may be present in the SCM as early as 2–3 weeks37; both the degree of fibrotic changes and the location of the nodule are associated with the prognosis for resolution. Nodules in the lower one third of the SCM are most likely to resolve with conservative stretching as compared to nodules that occupy the middle one third or both the lower and middle one third, and those that occupy the length of the SCM are the most recalcitrant.27,89 Synonyms for the nodule include SCM mass, tumor,138 or pseudotumor of infancy.148,165

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FIG. 9.1 Child with right CMT and CD, left

asymmetrical brachycephaly. Note the right lateral flexion, chin turned to the left, asymmetry of the ear pinnae, eyebrows, mandible, and neck folds, wider forehead, right shoulder elevation, and trunk rotation.

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FIG. 9.2 Anatomy of the sternocleidomastoid

muscle. (From Deslauriers J: Anatomy of the neck and cervicothoracic junction. Thorac Surg Clin 17:529-547, 2007.)

Potential confounding factors to full resolution of CMT are age at which an infant is referred for intervention,20,120 the severity of the range-of-motion (ROM) limitations,25,85 the thickness of a SCM nodule,59 and the variability in foci and dosage of intervention.114,152 Postures that can mimic CMT may result from nonmuscular causes, including absence of the SCM,60 benign paroxysmal torticollis,155 congenital malformations, bony anomalies, brachial plexus injury, ocular disorders, and neurologic impairments,10,155,156 so it is important for clinicians to take a detailed history and carefully examine infants who present with asymmetrical postures to rule out causes other than CMT.

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FIG. 9.3 Fontanelles and cranial suture lines and

junctions. (From Graham JM: Smith’s recognizable patterns of human deformation. 3rd ed. Philadelphia, Saunders, 2007.)

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FIG. 9.4 (A) A 2-month-old infant with a fibrotic nodule

in the left SCM muscle that involves the whole muscle. (B) Same infant at 3 months of age.

FIG. 9.5 Cranial deformation as a result of persistent

asymmetrical pressure. (Redrawn from Mortenson PA, Steinbok P: Quantifying positional plagiocephaly: reliability and validity of anthropometric measurements. J Craniofac Surg 17:413-419, 2006.)

Etiology and Pathophysiology of CD The etiology of CD has been attributed to intrauterine deformation that worsens postnatally,118,143 postnatal positioning,69,160 and cervical muscular imbalance or CMT.52 Intrauterine deformation has been theorized to result from uterine constraint that is perpetuated and accentuated postnatally as the infant preferentially lies in supine on the flattened area of the skull.118,143 Factors associated with increased risk for CD include: male gender, firstborn, delivered with assistance using forceps or vacuum extractor, cumulative exposure to the supine position, and neck problems.12 Although CD may be present at birth, a relationship between CD at birth and CD after 6 weeks has not been established.160 Stronger support exists for the hypothesis that postnatal positioning is a causal factor in CD. An increase in referrals for CD has been noted by craniofacial clinics16 since the 1992 “Back to

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Sleep” campaign.1 The American Academy of Pediatrics recommends that infants be placed on their backs to sleep to prevent sudden infant death syndrome (SIDS).3 Although this recommendation has resulted in more than a 40% reduction in the incidence of SIDS in the United States, an unintended consequence was the observed increase in CD.2 Supine sleeping61,69 is associated with CD, as well as several other postnatal positioning factors including: infrequent tummy time,66,160 consistent bottle feeding on the same arm,160 and consistent positioning in a crib.66,160 Motor development is inversely associated with CD, supporting the theory that earlier achievement of motor milestones, such as head control, may provide a possible preventive effect for CD.160 This is further supported by the observation that infants whose mothers perceive them as having lower activity levels61,66 or developmental delays66 have a higher risk of CD. Cervical muscular imbalance or CMT has been proposed as a causative factor of CD.127,129 CD at birth and limited passive cervical rotation5 or CMT118 are not associated; however, associations have been established between CD at 6–7 weeks of age and limited newborn passive cervical rotation,61 positional head preference in supine sleeping during the first 4 weeks of life,160 and positional head preference at 6 weeks.66 Furthermore, up to 75% of infants with CD exhibit SCM imbalance or CMT.52 Taken together, this evidence suggests that although intrauterine constraint may induce some cases of CD, positional preference from cervical muscular asymmetry and cumulative exposure to the supine position in early infancy likely interact to make a stronger contribution to the development of CD in the majority of infants. The natural history of CD is characterized by increasing incidence until approximately 4 months of age, when infants independently maintain their head upright, then decreasing incidence until 2 years of age.61 Controversy exists as to whether CD at 2 years of age persists35 or further normalizes126 during childhood and adolescence. Factors that contribute to the degree of resolution of CD are the severity of the CD,162 age at which an infant begins intervention,78,133 and type of intervention.47 Fig. 9.5 illustrates how persistent positional preference to the right in supine can contribute to asymmetrical development of the infant’s skull.

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Combined Conditions of CMT and CD It is not clear in all children whether the CMT yields the CD or whether the CD with a positional preference might lead to CMT. Infants with CMT who spend excessive time with the head turned to one side may develop flattening of the skull on that side. Likewise, an asymmetrical skull may cause the head to persistently tip toward the flattened side when supine, causing ipsilateral adaptive shortening of the SCM. Regardless of cause, many children present with both conditions and both will need to be addressed in the plan of care.

Methods of Classification for CMT Infants with CMT have been grouped in many ways, including the age at which their intervention began, severity of the ROM limitations, the presence of deformational plagiocephaly, the muscle fiber qualities based on ultrasound imaging, and the type of CMT.74 The three types of CMT commonly described are postural, muscular, and SCM nodule. Postural CMT is the mildest form and presents as a positional preference of the head and neck by the infant without limitations to PROM and without a nodule in the muscle.14,138 Muscular CMT involves unilateral tightness of the SCM apparent during cervical rotation and/or lateral flexion, without a nodule in the muscle. The most severe form presents with a palpable nodule50 or fibrous bands86 in the SCM and limitations in either or both cervical rotation and lateral flexion.106 CMT severity can also be classified with ultrasound images based on the degree of muscle fibrosis and fiber orientation.43,86 In general, larger and thicker nodules and/or higher ultrasound ratings are correlated with more severe presentations and longer treatment durations.149 The clinical practice guideline on the management of CMT74 suggests a classification method that accounts for the type of CMT, the degree of ROM limitations, and the age at which treatment begins. Seven grades of severity are provided with operational definitions that provide greater detail for comparing clinical outcomes (Table 9.1).

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TABLE 9.1 Grades of CMT Severity Grade Grade 1: Early Mild Grade 2: Early Moderate Grade 3: Early Severe Grade 4: Late Mild Grade 5: Late Moderate Grade 6: Late Severe Grade 7: Late Extreme

Definition These infants present between 0 and 6 months of age with only postural preference or muscle tightness of less than 15° of cervical rotation. These infants present between 0 and 6 months of age with muscle tightness of 15° to 30° of cervical rotation. These infants present between 0 and 6 months of age with muscle tightness of more than 30° of cervical rotation or an SCM nodule. These infants present between 7 and 9 months of age with only postural preference or muscle tightness of less than 15° of cervical rotation. These infants present between 10 and 12 months of age with only postural or muscle tightness of less than 15° of cervical rotation. These infants present between 7 and 12 months of age with muscle tightness of more than 15° of cervical rotation. These infants present after 7 months of age with an SCM nodule or after 12 months of age with muscle tightness of more than 30° of cervical rotation.

From Kaplan SL, Coulter C, Fetters L: Physical therapy management of congenital muscular torticollis: an evidence-based clinical practice guideline from the section on pediatrics of the American Physical Therapy Association. Pediatr Phys Ther 25:348394, 2013.

Methods of Classification for CD CD is classified by the type and severity of the deformation.91 The three types are plagiocephaly, brachycephaly, and dolichocephaly. Infants may also present with a combination of types.65,99 Deformational plagiocephaly (DP), depicted in Fig. 9.6B, is characterized by a parallelogram shape of the skull with ipsilateral occipital flattening and contralateral occipital bossing or bulging. DP is commonly associated with CMT,26 and the flattened occiput is typically contralateral to the tight SCM; for example, left CMT with a shortened left SCM is associated with right DP. DP is also known as lateral deformational plagiocephaly, nonsynostotic occipital plagiocephaly, and positional plagiocephaly. Deformational brachycephaly (DB), depicted in Fig. 9.6C, is characterized by central occipital flattening and is commonly associated with prolonged supine positioning.53,54 DB is also known as posterior deformational plagiocephaly and flat head syndrome. When DB presents asymmetrically with bilateral posterior

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flattening greater on one side of the skull compared to the other, it is specifically called asymmetrical brachycephaly. Deformational dolichocephaly, also known as scaphocephaly and depicted in Fig. 9.6D, is characterized by a disproportionately long and narrow skull. It is commonly associated with premature birth.68 The severity of CD can be classified by rating scales based on clinical observation.7,108 Argenta’s clinical classification scale7 is the most frequently reported. It distinguishes five types of DP and three types of DB based on the severity of the asymmetry of the skull, ear position, and face. Refer to Tables 9.2 and 9.3 for definitions and diagrams of each type. Quantitative measurement techniques for CD include using calipers,166 digital photographic techniques,62 or three-dimensional (3D) digital imaging.9 These techniques are often used in research or by specialized craniofacial clinics. All three techniques measure cranial width, cranial length, and transcranial diagonals as illustrated in Fig. 9.7. DP is quantified by the transcranial diagonal difference (TDD),141 oblique cranial length ratio (OCLR),64 and cranial vault asymmetry index (CVAI).103 These three measures vary in the location of their measurements, but they all measure the ratio of the longer to the shorter transcranial diagonal. Standard cutoff values have not been established but the following have been proposed: TDD of 3–10 mm is mild, 10–12 mm moderate, and > 12 mm severe.91 DB is quantified by the cephalic or cranial index (CI), the ratio of cranial width to cranial length. Standard cutoff values have not been established, but the following have been proposed: CI of 82% to 90% is mild, 90% to 100% moderate, and > 100% severe.91 Deformational dolichocephaly is defined as a CI of < 76%.88 Normative cranial values are available with age- and genderspecific cutoffs for mild, moderate, and severe DP or DB or a combination of DP and DB.166

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FIG. 9.6 Types of cranial deformation. (A) Typical. (B)

Plagiocephaly characterized by ipsilateral occipital flattening. (C) Brachycephaly characterized by central occipital flattening. (D) Dolichocephaly characterized by a long and narrow skull. (From Gilbert-Barnes E, Kapur RP, Oligny LL, et al., editors: Potter’s pathology of the fetus, infant and child. 2nd ed. St. Louis, Mosby, 2007.)

TABLE 9.2 Argenta’s Clinical Classification of Deformational Plagiocephaly (DP) Types Definition Type Cranial deformation limited to posterior skull I

Type II

Adds displacement of the ipsilateral ear forward or downward

Type III

Adds ipsilateral frontal bone protrusion

Type IV

Adds ipsilateral facial asymmetry due to excessive fatty tissue and, less frequently, hyperplasia of the ipsilateral zygoma

Type V

Adds temporal bulging or abnormal vertical growth of the posterior skull

Diagram

From Argenta L: Clinical classification of positional plagiocephaly. J Craniofac Surg 15:368-372, 2004. Illustrations copyright Technology in Motion Ltd.

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TABLE 9.3 Argenta’s Clinical Classification of Deformational Brachycephaly (DB) Types Definition Type I CD limited to posterior skull

Diagram

Type II

Adds widening of the posterior skull

Type III

Adds temporal bulging or abnormal vertical growth of the posterior skull

From Argenta L: Clinical classification of positional plagiocephaly. J Craniofac Surg 15:368-372, 2004. Illustrations copyright Technology in Motion Ltd.

FIG. 9.7 Points of measurement for cranial width,

cranial length, and transcranial diagonals to quantify cranial asymmetry (Redrawn from Steinberg JP, Rawlani R, Humphries LS, Rawlani V, Vicari FA: Effectiveness of conservative therapy and helmet therapy for positional cranial deformation. Plast Reconstr Surg 135:833-842, 2015.)

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Function, Activity, and Participation Common body structure and function, activity limitations, and participation restrictions of CMT are listed in Table 9.4. CMT typically presents as a consistent head preference into ipsilateral cervical lateral flexion and contralateral cervical rotation due to unilateral shortening or fibrosis of the involved SCM. Primary impairments include the presence of a tight band or nodule in the involved SCM,26,28 tightness of the involved SCM and ipsilateral cervical musculature, and decreased PROM into contralateral cervical lateral flexion and ipsilateral cervical rotation of the involved SCM.26,113 Additionally, muscle imbalance and decreased strength of the cervical musculature may result in decreased active range of motion (AROM) into contralateral cervical lateral flexion and ipsilateral cervical rotation of the involved SCM.113 Tightness of the SCM and cervical musculature can lead to red, irritated skinfolds of the ipsilateral anterior cervical region.55 The SCM and cervical musculature tightness can cause discomfort or pain during extremes of passive stretching.21 As the infant grows and if a positional preference is maintained, the cervical tightness and muscle imbalance can lead to asymmetrical movement of the face, spine, rib cage, and extremities that may lead to secondary tightness, muscle imbalance, and deformities of the cranium and face,168 or spine and extremities,55,143 some of which are illustrated in Fig. 9.8. Deformities associated with CMT include facial asymmetry,168 mandibular hypoplasia,168 C1-C2 subluxation,136 mild scoliosis,13,55 and hip asymmetry.70 Consistent positional preference by the infant may lead to activity limitations and participation restrictions resulting from difficulty actively rotating the head toward the side ipsilateral to the involved SCM. Clinical reports describe decreased visual tracking toward the ipsilateral side,55,82,119 altered midline perceptual motor coordination,152 decreased tolerance of the prone position,111 asymmetry in head turning in all developmental positions,55 delayed rolling,55 and asymmetrical or delayed protective and righting reactions of the head, neck, and trunk.67 Participation restrictions include a preference for side-of-bottle feeding81,161,160 and nursing,164 preference to look toward one side during play, and preference to look toward one side while sleeping.101,121 In addition,

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CMT is associated with delays in gross motor development at 2 and 6 months of age.111,130,131 For most children, the delays resolve by 10 months,111 but for others, delays may persist into early childhood.130 TABLE 9.4 Potential Body Structure and Function, Activity, and Participation Limitations of CMT and CD

CD Changes in Body Structure and Function, Activity, and Participation Common body structure and function, activity limitations, and participation restrictions of CD are listed in Table 9.4. Craniofacial asymmetries observed in infants with CD are specific to the type of deformation. DP is characterized by asymmetry of the posterior cranium with lateral occipital flattening.7,16 As the severity of the deformity increases, the following may be observed: cranial base deformation7; ear asymmetry with the ear ipsilateral to the posterior flattening displaced anteriorly, inferiorly, or both7; protrusion of the frontal bone ipsilateral to the posterior flattening (frontal bossing)7; facial asymmetry7; and temporal bulging or abnormal vertical growth of the posterior skull.7 Fig. 9.9A–D illustrates cranial asymmetry consistent with DP. Activity limitations and participation restrictions associated with DP include difficulty with visual tracking to the contralateral side of the posterior flattening, particularly when supine or in equipment that supports the head in

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a reclined sitting position, e.g. car seats and infant swings. If ear asymmetry is present, DP may also result in difficulty fitting glasses.124 Peer teasing about head shape has been reported by 5% to 10% of elementary school children with CD.134,142 DB is characterized by central occipital flattening.7 As the severity of the deformity increases, the following may be observed: widening of the posterior half of the skull and temporal bulging or abnormal vertical growth of the posterior skull.7,90 DB has not been reported in the literature to be associated with specific secondary impairments, activity limitations, and participation restrictions; however, clinical presentations may include excessive use of supine-supported positioning devices,90 bilateral shoulder hiking and decreased active and passive cervical ROM in rotation and lateral flexion, and reduced cervical flexion due to upper trapezius muscle tightness. Reflux may contribute to the severity of DB if infants require prolonged upright positioning after feeding; reflux discomfort may cause trunk and neck arching87 with increased pressure against the supporting surface. Infants with DB may have decreased tolerance to prone positions for play if they have not had supervised prone positioning from early infancy (see Fig. 9.6C).54,101 Deformational dolichocephaly is characterized by a disproportionately long and narrow skull.68 It may result in activity limitations and participation restrictions associated with difficulty maintaining the head in midline when supine or in equipment that supports the head in a reclined sitting position (see Fig. 9.6D). CD has traditionally been regarded as a cosmetic condition with benign neurodevelopmental sequelae.124 However, recent evidence demonstrates an increased prevalence of gross motor delay in infants with CD,63,117 lower developmental scores in preschool children with CD,30 and an increased use of special education and therapy services in school-aged children with a history of CD.100 Although it cannot be ruled out that CD is the cause of the delays, it may be that infants with early neurodevelopmental concerns are at increased risk for developing CD30,125 due to abnormal muscle tone49 and decreased activity levels.61

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FIG. 9.8 Anterior and posterior views of characteristic

asymmetric postural deformities shown in a 3-monthold infant (A–B), an 8-month-old infant (C–D), and an untreated 8-year-old child (E–F). All have left congenital muscular torticollis (CMT) and deformational plagiocephaly (DP). (A) 3-month-old in supine with incurvation of the entire vertebral column. (B) Same 3-month-old infant in prone. Note little change in the postural alignment. (C) 8-month-old in sitting exhibiting postural asymmetry. (D) 8-month-old in sitting exhibiting ipsilateral shortening of the posterior cervical muscles, shoulder elevation, and rotation of the thorax. (E–F) Untreated 8-year-old in standing with long-term functional consequences of CMT and DP, including postural asymmetries.

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FIG. 9.9 Craniofacial asymmetries. (A) Submental

view of an 8-month-old infant with left congenital muscular torticollis (CMT) and deformational plagiocephaly (DP). Note recession of the frontal bone, eyebrow, and zygoma on the ipsilateral side and inferiorly and posteriorly positioned ipsilateral ear. (B) En face view shows hemihypoplasia of the face, decreased vertical facial height on the left, asymmetry of the eyes with the ipsilateral eye smaller, inferior orbital dystopia, canting of the mandible, and deviation of chin and nasal tip. (C) Submental view of an 8-yearold with untreated left CMT and DP demonstrating the same facial asymmetries as the 8-month-old infant. (D) En face view of same 8-year-old demonstrates similar cranial facial asymmetries and shortening of the left sternocleidomastoid muscle.

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Foreground Information Physical Therapy Management of CMT and CD The overall management of CMT and CD begins with prevention of limitations and deformities by repositioning to facilitate symmetrical movement and head shaping; clinicians can provide prevention education to caregivers, professional staff, and the community. Physical therapy intervention is highly effective in resolving CMT and CD when initiated early in infancy86,120; therefore, it is imperative that infants receive a physical therapy evaluation and therapeutic intervention as soon as asymmetries are identified. Management follows the American Physical Therapy Association (APTA) patient management model,6 beginning with screening to rule out potential causes of asymmetry that are not CMT; conducting a full examination; diagnosing the limitations in body structure and function, activities, and participation; providing a prognosis based on the severity of the conditions; providing intervention to correct the conditions; and all the while, reexamining to determine if progress is adequate, if discharge criteria are met, or whether referrals to other specialists are needed. The following examination and intervention descriptions follow the 2013 CMT clinical practice guideline (CMT CPG),74 augmented by the literature on CD.

Screening and Differential Diagnosis for Confounding Conditions The purpose of screening is to rule out conditions that mimic CMT postures, to determine if the asymmetrical posture is congenital or acquired, and to determine the risk for or the presence of CD. Infants with suspected CMT require a thorough history and screening for neurologic, musculoskeletal, visual, gastrointestinal, integumentary, and cardiopulmonary integrity. This is necessary to identify possible conditions other than CMT that could cause asymmetrical posturing and for which consultation with the child’s pediatrician and/or appropriate specialists may be necessary. The typical history of CMT begins with the parent reporting or

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pediatrician noticing a persistent positional preference of tilting or turning to one side, or resistance to passive cervical rotation. Parents report challenges with cleaning under their infant’s chin, breastfeeding on one side more than the other, or positioning the infant symmetrically in car seats, or they notice the infant’s asymmetrical posture in pictures. Action Statement 3 of the CMT CPG74 specifies nine health history factors to document, in addition to standard intake information. Standard intake information includes date of birth, date of examination, gender, birth order, birth weight, birth length, reason for referral or parental concerns, general health of the infant, and other health care providers who are seeing the infant. The nine health history factors include items that are known to be associated with CMT and/or are typically included in a physical therapy history. They are: 1. Age at initial visit20,93 because this assists with assigning a severity grade and determining a prognosis for the episode of care. 2. Age of onset of symptoms26,44 because this assists with distinguishing between acquired torticollis and CMT and with determining a prognosis for the episode of care. 3. Pregnancy history, including maternal sense of whether the infant was “stuck” in one position during the final 6 weeks of pregnancy144 because this assists with identifying factors associated with CMT and CD. 4. Delivery history including birth presentation (cephalic or breech)26 or multiple births79 because this assists with understanding possible causes of CMT and CD. 5. Use of assistance during delivery such as forceps or vacuum suction143,150 because these methods may be a cause of CMT if the SCM was strained during delivery. 6. Head posture/preference14,160 and changes in the head/face25,143 because these asymmetries are classic presentations of CMT and possible CD. 7. Family history of torticollis or any other congenital or developmental conditions138,153 because there may be a genetic component to the condition. 8. Other known or suspected medical conditions10 because they may be a cause of asymmetries. 9. Developmental milestones appropriate for age because delays

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may signal other contributing factors to asymmetries or may be a consequence of CMT.130,152 Following the history, the clinician continues a systems-based screen for neurologic, musculoskeletal, visual, gastrointestinal, integumentary, and cardiopulmonary integrity. Up to 18% of children presenting with a torticollis posture may have a nonmuscular etiology.10 Thus the differential diagnostic process requires screening for possible conditions that may cause posturing that mimics CMT and taking an accurate history of the onset of asymmetrical posturing to rule out an acquired torticollis. Neurologic causes of asymmetrical posturing include brachial plexus injuries, central nervous system (CNS) lesions, astrocytomas, brain stem or cerebellar gliomas, agenesis of CNS structures,10,106 and hearing deficits.83 CMT is not typically associated with pain or discomfort at rest or during PROM within the bounds of muscle tightness; thus the presence of pain may indicate an acute condition needing medical referral.10,155 The clinician will need to distinguish between infant crying due to pain and stranger or setting anxiety. Screen for the following red flags: abnormal or asymmetrical tone, retention of primitive reflexes, resistance to movement, cranial nerve integrity, brachial plexus injury, and pain signals during movement; a neurologic consult may be appropriate. Musculoskeletal conditions that mimic CMT include Klippel-Feil syndrome (fusion of cervical vertebrae), clavicle fracture, congenital scoliosis, or C1-C2 rotary subluxation.10 Screen for the following: asymmetry of the face, neck, spine, and hips, asymmetrical passive neck rotation, the presence of masses in the SCM. Red flags include: atypical positions, such as right cervical rotation with a right lateral flexion, asymmetrical cervical vertebrae on palpation, acute pain responses on cervical movement, tissue masses outside of the SCM or in other areas of the body, children with Down syndrome, C1-C2 cervical spine instability, and late onset of a head tilt with known symmetry for the first few months of life; an orthopedic consult may be appropriate. Visual conditions may cause asymmetrical posturing as the infant attempts to stabilize his or her focus and include ocular apraxia, strabismus, ocular muscle imbalances, and nystagmus.10,106 Screen for the following: asymmetrical and discoordinated visual tracking

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in any direction or clinician inability to distinguish between limitations due to ocular control versus neck rotation; an ophthalmologic consult may be appropriate. Gastrointestinal conditions include Sandifer syndrome, a hiatal hernia with gastroesophageal reflux105 that typically causes trunk arching and neck flexion to the right following eating,42 a history of reflux or constipation,155 and easier or preferred feeding to one side.14 Through parental report and observing the infant’s behavior before, during, and after feeding, screen for the following red flag: curvature or arching of the trunk and head turning as a means of extending away from the esophagus, usually accompanied by crying; a gastrointestinal consult may be appropriate. Integumentary conditions include redness or irritation in the folds of the neck, asymmetry of the skinfolds about the neck, asymmetry of the skinfolds of the hips as a sign of hip dysplasia,107 and color of the skin that might suggest trauma as a cause of asymmetry.107 Screen for the following red flags by inspecting the skin and ROM with clothing removed: asymmetrical skinfolds, bruising, raw skin breakdown, or purulent exudate; a medical consult is appropriate. Cardiopulmonary conditions include asymmetric expansion and appearance of the rib cage and respiratory distress.107,155 Screen by observation of the chest wall during breathing at rest and when active or crying. Red flags include: stridor, wheezing, shortness of breath, cyanotic lips; a consult with the child’s pediatrician or a cardiologist is appropriate. Acquired torticollis, in contrast to congenital torticollis, may occur in older babies and children and be caused by ocular lesions, benign paroxysmal torticollis, dystonic syndromes, infections, Arnold-Chiari malformation, syringomyelia,33 posterior fossa tumors,157 and trauma.107,138 The natural history of these conditions includes a more acute onset, a red flag that should be discussed with the child’s pediatrician and that may require immediate medical attention. Cranial deformation screening identifies cranial asymmetries and differentiates them from pathologic craniosynostosis, or premature closure of one or more cranial sutures. Craniosynostosis results in characteristic head shape asymmetries due to restriction of growth

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perpendicular to the fused suture. Although craniosynostosis is rare (approximately 0.04% of births15), early identification is critical because craniosynostosis may restrict brain growth and increase intracranial pressure necessitating surgical intervention to prevent neurologic complications.34,46 Screen for head shape asymmetries not consistent with DP, DB, or deformational dolichocephaly by observing the symmetry of the skull from the front, top, and sides, noting symmetry of the ears and eyes and midline alignment of the chin and nose relative to the perimeter of the face. Premature closure of one lambdoid suture results in the plagiocephalic head shape commonly associated with CMT. Fig. 9.10 illustrates a way to differentiate between DP and unilambdoid synostosis: posterior displacement of the ear ipsilateral to occipital flattening is indicative of unilambdoid synostosis, whereas anterior ear displacement is more consistent with DP. If craniosynostosis is suspected, prompt referral to a craniofacial specialist is recommended.34,46 See e-fig. 9-1 for greater detail on characteristics of craniosynostosis.

FIG. 9.10 Comparison of typical skull changes for

deformational plagiocephaly (A) and unilambdoid synostosis (B). (From Kabbani H, Raghuveer TS: Craniosynostosis, American Family Physician 69(12):2863-2870, 2004.)

Consistent with the CMT CPG,74 the physical therapist should request copies of x-ray, ultrasound, computerized tomography (CAT), or magnetic resonance imaging (MRI) images or image reports from the child’s parents or guardians that may have been performed prior to the physical therapy screening. These will provide additional details about the infant’s physical status and, in

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the case of ultrasound images or reports, may help the clinician to visualize the location and extent of any existing nodule(s). If no unusual signs or symptoms are identified through screening, the clinician may proceed with a more detailed examination. If there are red flags that the asymmetrical posture may not be caused by CMT or CD, the clinician will need to determine whether to refer the infant back to his or her primary physician for immediate care, for further consultation, or whether to consult with the physician but also proceed with conservative intervention.

Physical Therapy Examination The detailed physical therapy examination should evaluate and document across the three International Classification of Functioning, Disability and Health (ICF) domains of body structure and function, activities, and participation (Tables 9.5 and 9.6). The exam is typically organized to maximize the infant’s ability to cooperate throughout the full exam, although documentation may reflect a different order of information. (See e-fig. 9-2 for a sample CMT/CD initial evaluation form.58) This means engaging the infant in play to assess participation and functional mobility before conducting measures of impairments, when greater handling and movement restrictions are required. TABLE 9.5 Key Examination Tools for CMT Limitation Cervical PROM Cervical AROM Prone tolerance Gross motor function Pain Cervical strength

PT Measurement Arthrodial protractor measurement of PROM Arthrodial protractor or seated swivel test Time per episode and episodes per day in prone TIMP for < 4 months old; AIMS for > 4 months to 1 year FLACC Muscle Function Scale

AIMS, Alberta Infant Motor Scale; AROM, Active Range of Motion; CMT, Congenital Muscular Torticollis; FLACC, Face, Legs, Activity, Cry, Consolability scale; PROM, ; PT, Physical Therapist; TIMP, Test of Infant Motor Performance.

TABLE 9.6

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Key Examination Tools for CD Limitation

PT Measurement

Cranial shape Argenta Clinical Classification Scales of DB and DP Cervical AROM Arthrodial protractor or seated swivel test

AROM, Active Range of Motion; CD, Cranial Deformation; DB, Deformational Brachycephaly; DP, Deformational Plagiocepahly.

Participation Participation for young infants includes their ability to pose for pictures, symmetrically explore their immediate surroundings both visually and physically, alternate sides easily during breast or bottle feeding, and tolerate playing while prone for increasingly longer periods of time. Time spent in supported supine-positioning devices, such as car seats, strollers, bouncers or infant swings, should allow for symmetrical positioning. Examination of participation is through parent interview and observation of the infant during these activities. Parents may first suspect a problem when trying to pose their infant for photographs, when positioning him or her in car seats, or when observing him or her during diaper changes. Perusing photos on a parent’s smartphone of the infant’s earliest days may help to pinpoint when the asymmetry first appeared. Preference for or more efficient feeding to one side may be a subtle accommodation to limited neck rotation or an asymmetrical mandible.164 Purposive positioning of the young infant is a critical intervention for correcting CMT, preventing CD if it is not present, and correcting CD if it is present.161 Questions should be asked about sleep position, head rotation or turning preference when sleeping, sleeping surface, and tolerance to prone positioning. Understanding the amount of time the infant spends in passive positioning devices versus time in prone play is important for parental education and for designing an intervention approach.

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E-FIG. 9.1 Craniosynostoses: sagittal synostosis,

metopic synostosis, and right coronal synostosis. (A) Typical skull contour with a characteristic anterior fontanelle. (B) Sagittal synostosis: elongated skull shape associated with a narrow biparietal diameter and relative frontal prominence. This image also illustrates the blunted anterior fontanelle that may be palpated in some affected children. (C) Metopic synostosis: triangular forehead shape, decreased bifrontal diameter, and supraorbital rims visible from the bird’s eye view. The anterior fontanelle is often posteriorly displaced. (D) Right coronal synostosis: asymmetry of the forehead with flattening of the right frontal bone, relative prominence of the right eye, slight ipsilateral occipital flattening, and the consistent finding of twisting of the nasal tip away from the affected suture. The anterior fontanelle is also blunted at the intersection with the right coronal suture and deviated to the left. (From Cunningham ML, Heike CL: Evaluation of the infant with an abnormal skull shape, Curr Opin Pediatr 19:645–651, 2007.)

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657

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E-FIG. 9.2 Pediatric outpatient initial examination for

torticollis.

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Activities Infant activities focus on acquisition of developmental milestones and symmetrical exploration of their own movements and their immediate environment. Full and active range of the neck, spine, and extremities is critical for exploring surfaces, visually tracking activity around them, and moving through space. Activity limitations and developmental milestones should be documented at each visit, including changing tolerances to positions, acquisition of or delays in milestones, presence, absence, or asymmetry in reflex postures or protective reaction patterns, and asymmetry of volitional movements and positions. Development should be assessed with an age-appropriate, standardized valid and reliable tool. Examples of such tests that can assist with early identification of delays during the age range when CMT is often evident include the Test of Infant Motor Performance (http://thetimp.com/) for infants who are 34 weeks postconception to 4 months postterm, the Harris Infant Neuromotor Test (HINT, http://thetimp.com/) for infants 2.5–12.5 months old, and the Alberta Infant Motor Scale (AIMS, http://www.albertainfantmotorscale.com/) for infants who are 0–18 months old. More information on these tests can be found in Chapter 2. Body Function and Body Structures The CMT CPG74 describes seven key body function and body structure items to examine. They are presented in order from the most active to most passive in terms of an infant’s ability to cooperate. Infant posture in supine, prone, sitting, and standing, with or without support as appropriate for age, is assessed for symmetry and tolerance for the position. Parents can assist in this portion of the examination by placing their infant in these positions to mitigate stranger anxiety and to allow for a therapeutic trust to build among the infant, the parent/caretaker, and the clinician. In supine and prone, document the side of CMT and any asymmetries of the shoulders, spine, hips, or legs. In prone, document the infant’s tolerance to the position as an indicator as to whether prone play is a natural part of the infant’s experiences. In sitting and standing, whether supported or independent, document the child’s ability to maintain the position and any postural asymmetries. If

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feasible and permitted by the clinic, digital images in these positions can provide accurate measures of the observed asymmetries.123 Specifically, the following impairments should be documented at the initial examination and routinely until discharge. Bilateral active cervical rotation, lateral flexion, and diagonal movements Rotation should be measured in supine for infants under 3 months; for infants > 3 months, it should be measured while sitting on the parent’s lap using the rotating stool test,82 by enticing the infant to follow toys or sounds in all directions. Lateral flexion should be measured with the Muscle Function Scale113,115 by holding the infant vertically in front of a mirror and tipping her horizontally 90° to each side, observing for the amount of active neck righting from the horizontal line. The Muscle Function Scale is reliably scored with a picture scale (ICC ≥ 0.94)115 as 0 = with the head below horizontal, 1 = with the head on the horizontal line, 2 = with the head slightly over the horizontal line, 3 = with the head high over the horizontal line, and 4 = with the head very high over the line approaching vertical.113 Active neck extension and rotation should be assessed in prone to determine whether the infant has enough AROM to clear the airway and face; this is critical for safety during prone play. Passive and AROM of the upper and lower extremities, including screening for hip dysplasia Passively move the upper and lower extremities through full range to examine for brachial plexus injuries, clavicle fractures, abnormal tone, neurologic impairments, or CNS lesions.107 Assess for tightness of the upper trapezius, scalene, and posterior neck muscles of the ipsilateral side. Use the Ortolani and Barlow maneuvers in infants < 3 months old to screen for hip dysplasia.145 For infants > 3 months, the Galeazzi sign, asymmetrical posturing, or hip abduction limitations may be stronger indicators of hip dysplasia.32 Observe active movement of the extremities for symmetrical and reciprocal use, particularly bilateral hand exploration and upper extremity (UE) midline play to assess for hemi-neglect. More information on the Ortolani and Barlow

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maneuvers is located in Chapter 14. Bilateral passive cervical rotation and lateral flexion should be measured with an arthrodial protractor Reference values for typically developing infants are 110 ± 6.2° for cervical rotation and 70 ± 2.4° for lateral flexion.113 Cervical neutral should be maintained in all measures.48 For cervical rotation, infants and young toddlers should be measured in supine; children older than 2 years can be measured in sitting if they are able to cooperate.77 Measuring with a clear arthrodial protractor requires a minimum of two adults with a mounted protractor, one to stabilize the infant (usually the parent) and one to rotate the head while maintaining cervical neutral and to read the measures. If the protractor is not securely positioned on a wall, plinth, or in a frame, an additional adult may be needed to hold the protractor above the infant, as depicted in Fig. 9.11A. Testing in supine may require elevating the infant’s torso on a blanket or 2-in mat, or extending the infant’s head beyond the edge of the mat table, to allow for clearance of the rotating occiput and to ensure a cervical neutral position. Visually assess for symmetry of the nose, chin, and ear placement to ensure that the head is in neutral and the nose is aligned to 90° as the starting reference point. Lateral flexion is measured in supine with the arthrodial protractor laid in the same plane as the infant, as depicted in Fig. 9.11B. A parent/caregiver can stabilize the infant’s torso while the clinician supports the head laterally over each ear or under the occiput while moving into the end ranges. Again, care should be taken to test in cervical neutral; raising the trunk with a blanket or 2-inch mat may be required. Whatever measurement approach is chosen, measurement procedures should be consistent within each child and across children within a practice setting. Pain or discomfort at rest and during passive or active ROM, using the Faces, Legs, Activity, Cry, Consolability (FLACC) scale.96 Pain is not a typical sign or symptom of CMT. It can be associated with skinfold irritation or acute or acquired asymmetries, for which

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immediate medical attention is appropriate. Pain, exhibited as facial grimacing or crying, may be observed during stretching or positioning out of the infant’s preferred postures. The revised FLACC tool rates facial expressions, movement, and behavior states on a 3-point scale of 0 for no expression or a quiet state, 1 for occasional expressions or movements, and 2 for frequent grimacing or large movements. Discriminating whether crying is a sign of pain, versus stranger or clinic anxiety, is most easily accomplished by handing the infant to the parent and observing the speed with which the infant stops crying. Integumentary evaluation of the infant’s cervical skin and hip folds This includes assessment of skin integrity; symmetry of skinfolds; the presence and location of a SCM nodule or fibrous band; and size, shape, and elasticity of the SCM capital and trapezius muscles. Evaluate skin integrity by noting areas of discoloration, reddening, skin breakdown, irritation, or rashes. Observe for symmetry of the skinfolds about the neck for consistency with CMT and the hip joints or inguinal folds for potential hip dysplasia. Palpate the SCM to determine the quality of tightness and pliability of the muscle and to identify the presence, size, and location within the SCM of any nodule. Nodules that are higher up or less than one third of the muscle length tend to resolve more quickly than those that extend through a greater proportion of the muscle or are located in the lower one third.27,28 Redness and deeper skinfolds along the anterior lateral side of the neck are characteristic of SCM tightness. Redness and deeper posterior neck skinfolds are an indication of tightness in the upper trapezius muscle.

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FIG. 9.11 Measuring with an arthrodial protractor. (A)

Position of the arthrodial protractor for measuring neck

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rotation. (B) Placement of the protractor for measuring lateral neck flexion.

Craniofacial assessment for asymmetries This includes palpation of the anterior and posterior fontanelles for size, shape, position, and fullness; palpation of cranial sutures to assess for ridging over each suture; and visual assessment of craniofacial symmetry with photo documentation.34,91 The assessment of craniofacial symmetry is done in six views, depicted in Fig. 9.12A–F: an anterior view to assess symmetry of the cheek, eyes, ears, and nose (Fig. 9.12A); a vertex (top down) view to assess symmetry of the frontal bones and occiput, width of the biparietal diameter, skull length, shape of the forehead, and relative anteroposterior position of the ears (placing one index finger in each of the infant’s ears and viewing from above can aid in detecting anterior or posterior displacement of one ear [Fig. 9.12B]); a posterior view to assess whether the skull base is level and to identify the presence of a temporal bulge and/or vertical displacement of an ear (Fig. 9.12C); two lateral views to evaluate the presence of a high sloping forehead or abnormal vertical growth of the posterior skull (Fig. 9.12D–E); and an inferior or submental view to evaluate symmetry of the forehead, ears, eyes, and cheek (Fig. 9.12F).

Physical Therapy Classification and Prognosis for Clinical Management Based on the results of the examination, the clinician should classify each condition’s severity. Classification supports more accurate prognoses of the expected outcomes and episode of care and more appropriate alignment of interventions to achieve the expected outcomes. For both CMT and CD the key factors that impact classification and prognosis are the age at which the infant presents for intervention and the severity of the impairments. The prognosis for infants with CMT, with or without CD, should address the potential for resolution of CMT and/or CD relative to the grade of severity and the options for intervention, the estimated episode of care to reach resolution relative to different intervention

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approaches, and the potential benefits, harms, and/or costs of implementing each approach.74 This should be communicated clearly to the parents/caregivers to facilitate shared decision making about the frequency of clinical visits, the dosage of home exercise programs, the use of cranial remolding therapy, the potential for more invasive interventions if conservative management is ineffective, and concerns about the social, functional, and developmental implications of watchful waiting.

CMT Classification and Prognosis Table 9.1 describes the seven grades of CMT severity recommended by the CMT CPG74; they account for the age at which the infant is initially evaluated, the limits of cervical rotation, and the presence or absence of an SCM nodule. Assigning a grade of severity can assist with estimating the length of the episode of care; lower grades are associated with faster impairment resolution.120 Assigning grades can also assist with measuring service outcomes because infants can be compared to others with the same severity grades rather than being grouped together. The prognosis for full resolution of CMT is 100% for infants < 3 months of age, if they are referred early and caregivers are adherent with conservative intervention. The prognosis for full resolution drops to 75% for infants referred between 3 to 6 months of age, and 30% for toddlers between 6 to 18 months of age.41 Because the potential for full resolution reduces with increasing age of treatment initiation, the potential for surgical release increases with later ages of referral.41,120 CD Classification and Prognosis Tables 9.2 and 9.3 describe the Argenta Clinical Classification Scales for DP and DB7 recommended by the CMT CPG74 for documenting the severity of CD in clinical settings. These scales are clinically practical, easily understood by families, do not require timeintensive measurements or use specialized equipment,7 and demonstrate moderate interrater (weighted kappa = 0.51–0.66) and intrarater (weighted kappa = 0.6–0.85) reliability.139

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FIG. 9.12 Six craniofacial views to assess for

The prognosis for full resolution of CD is 77% after parent education in repositioning and 94% to 96% after cranial remolding therapy, whether or not it is preceded by parent education in repositioning.141 Risk factors for moderate to severe CD after parent education in repositioning with or without physical therapy include poor adherence, initiating intervention after 3 months of age, persistence of CMT beyond 6 months of age, developmental delay, and severity of initial CD.141 Risk factors for moderate to severe CD after cranial remolding therapy include poor adherence with wearing the helmet and initiating intervention after 9 months of age.141 Surgical management of CD is considered in only very severe cases because outcomes are inconsistent and high rates of complications have been reported.36,97

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Conservative Interventions for CMT and CD Currently, most authors advocate conservative, nonoperative interventions for CMT and CD, and those interventions can be divided into first-choice interventions with strong and consistent evidence for effectiveness and supplemental interventions with weaker or less consistent evidence of effectiveness (Tables 9.7 and 9.8).

First-Choice Interventions The conservative first-choice interventions for CMT consist of five components: parent/caregiver education, environmental adaptations, passive neck ROM exercises, neck and trunk AROM, and facilitation of symmetrical movement activities.74 The conservative interventions for CD include parent/caregiver instruction in repositioning and environmental adaptations for CD under 6 months of age and cranial remolding therapy for severe CD after 4 months of age.47,125 TABLE 9.7 Key Interventions for CMT Limitation PT Intervention Decreased cervical Manual stretching of tight musculature, active cervical rotation toward rotation nonpreferred side, strengthening of cervical musculature, passive positioning to stretch tight tissues Head tilt Manual stretching of tight musculature, active cervical lateral flexion away from head tilt, strengthening of cervical musculature, passive positioning to stretch tight tissues Positional Active movement and strengthening opposite of the preferred side or preference and/or asymmetry trunk asymmetry Prone position Increase use of prone positioning to strengthen capital muscles and intolerance facilitate symmetrical trunk and head alignment Asymmetrical Active movement and strengthening opposite of the asymmetry postures Developmental Facilitate equal use of all extremities and head turning to both directions delay during daily activities and play

TABLE 9.8 Key Interventions for CD Limitation PT Intervention Brachycephaly Increase prone positioning to relieve pressure on occiput to allow for

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reshaping. Refer severe cases for cranial orthotic assessment at 4 months of age and moderate cases for cranial orthotic assessment at 6 months of age. Plagiocephaly Head turning and positioning opposite of preferred position, increased time in prone, facilitation of development to encourage overall movement away from the flattened side. Refer severe cases for cranial orthotic assessment at 4 months of age and moderate cases for cranial orthotic assessment at 6 months of age.

Parent/caregiver education Parent/caregiver daily adherence to the home program is critical to the success for remediating CMT and CD; it must be stressed to the caregivers that they are the primary interventionists for these conditions and that the role of the clinician is to help guide and advance the home program. Prevention of CMT and CD through early parental education and active infant repositioning, including the use of prone positioning and unfettered movement, can effectively reduce the incidence of either or both CMT from positional preference and postnatal CD.22,159 The American Academy of Pediatrics recommends counseling of all parents during the newborn period (by 2 to 4 weeks of age) in active infant repositioning and environmental adaptations to prevent CD,82 and increasing evidence supports that parent guidance before discharge from the maternity ward may reduce the prevalence and severity of CD in early infancy.4,22 Reinforcing or improving neck ROM, strength, and postural control can be accomplished in any number of ways throughout the day. In infants without CMT or CD, caregivers should be aware to change the infant’s position throughout the day and present voice and objects of interest equally to the right and left sides. Midline development should be stressed. In infants with CMT and/or CD, caregivers should be taught to purposefully carry, hold, and position the infant in ways that create a prolonged stretch of the tight muscles and promote midline development and symmetry of movements.13,152 Toys should be presented to the nonpreferred side to facilitate head turning and reaching in all planes.13 Caregivers should also be taught to approach and feed the infant to promote looking toward the nonpreferred side160 or by alternating sides for feedings.92 Home exercise programs should include eliciting balance reactions for strength development of the neck and trunk muscles, specifically

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cervical lateral flexion away from the preferred head tilt. Once an adequate amount of neck muscle strength is obtained, the exercises should be task specific to encourage the infant to use that strength to lift the head against gravity during pull to sit, in prone play, and for visual tracking in all directions.152 Strengthening neck and trunk rotator muscles promotes development of transitional movements such as rolling and coming to sit from prone and supine. Caregivers providing ROM exercises should be instructed to observe for changes in the infant’s behavioral and physiologic states and to discontinue exercises if the following occur: changes in face color, breathing rate, or heart rate; increased hand and foot movement; plantar or palmar sweating; eye squeezing; perspiration; nasal flaring or brow bulging; mouth gaping; and crying.11 Passive movement should be done slowly, and stretching should not be done against an infant actively resisting the stretch. Parent education to prevent and minimize CD includes repositioning to decrease pressure on the flattened area of the skull when sleeping in supine and during bottle and breastfeeding and supervised prone positioning for play4,47 with a goal of at least 30– 60 min a day.82 Environmental adaptations for CMT and CD Adaptations to the infant’s environment can support the home exercise program and facilitate goal attainment. Attention should be paid to the type of positioning devices used by the family and the amount of time an infant spends in those devices.82,119 Parents should be aware that car seats, infant swings, and bouncy seats that rely on semireclined supine positioning need to be used with correct postural alignment to prevent reinforcement of CMT and that time in those devices should be minimized in favor of supervised prone play.82 Environmental adaptations to correct CMT, or to prevent and minimize CD, include limiting time in supported supine positions such as car safety seats, infant swings, and infant carriers and environmental modifications to encourage the infant to rotate the head toward the nonpreferred side, including changing toy positions and the position of the infant’s crib relative to the door and reversing the head-to-toe position of the infant in the crib and on the changing table.4,47

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PROM of the neck The origin, insertion, and biomechanics of the SCM muscle, and the location of any nodules or fibrous bands, dictate the angles of stretching necessary to elongate the muscle to correct CMT. The elongated position can be attained with ipsilateral rotation, contralateral lateral flexion, and contralateral asymmetric extension from a starting point of neutral cervical spine alignment. In younger infants stretching can be accomplished in most positions, including when carried prone on the caregiver’s forearm, up against the chest wall, in supine, or supervised prone lying, as illustrated in Figs. 9.13 for cervical rotation and Figs. 9.14A–C for lateral flexion. To maximize stretching routines in the older infant, placing the infant supine on the parent’s lap or in a reclined sitting position may be more comfortable and acceptable to the infant. Regardless of the chosen position, the clinician should consider the following factors: Starting position: Place the infant in a comfortable position, either supine or reclined sitting on the caregiver’s lap, with the head and neck in midline, aligned as possible with the trunk and pelvis. Use the infant’s nose and umbilicus as landmarks for midline alignment. Identify the tight muscles and their line of pull to maximize stretching biomechanics. Stabilize the shoulders. Stretching should be isolated to the tight muscles. Differentiate between cervical and shoulder tightness in order to determine the correct stretch. Check for skin irritation and redness. These may be indicators of muscle tightness. Do not force the stretch. PROM should not be painful. Lowintensity, sustained holding at the end of range will avoid microtrauma of the muscle159; positioning and handling to facilitate passive elongation are also effective.110,151 PROM through passive positioning or manual stretching while walking around or rocking the infant provides multiple sensory stimuli to the infant and may distract him or her from resisting the stretch sensation. Contraindications for passive neck ROM include Klippel-Feil syndrome, bony abnormalities, fractures (particularly of the

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clavicle), C1-C2 subluxation, odontoid abnormalities, CNS or bone tumors, or brain stem malformations (e.g., Arnold-Chiari malformation).106,137 Caregivers providing ROM exercises should be instructed to observe for changes in physical appearances such as worried facial expressions, chin quivering, nasal flaring, and increased body tone and physiologic signs such as changes in color, breathing, or heart rate8 and to consult with the clinician on how to continue a safe home program.

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FIG. 9.13 Positions to encourage cervical rotation. (A)

Chest hold for trunk and neck rotation to the right. (B) Supported sitting with right shoulder stabilization and stretching to the left. (C) Football style support with head turned toward the shortened side.

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FIG. 9.14 Positions to encourage cervical lateral

flexion. (A) PROM into right lateral flexion to stretch the left in a modified football carry. (B) PROM into left lateral flexion and right cervical rotation in supported supine, with gentle stretch to right upper trapezius. (C) PROM during supported sidelying to stretch the right lateral cervical and trunk flexors.

AROM of the neck and trunk The focus of AROM is to strengthen weak neck and trunk muscles. This can be achieved through positioning, handling, and carrying during care and play,110 offering food from the nonpreferred side to encourage active cervical rotation,155 and using righting reactions to activate weaker muscles110,155 as depicted in Fig. 9.15A–C. Active play in prone may need to be modeled for the parent/caregiver who is wary of placing the infant prone or who is not sure how to modify the prone position so that the infant can tolerate it. Prone play is critical for elongating the neck flexors and strengthening capital muscles.45,95 Symmetrical motor development In addition to remediating impairments about the neck, the clinician should facilitate development of age-appropriate function, inclusive of rolling, creeping, crawling, sitting, and standing, as well as active and symmetrical play within each of those positions. There are several studies supporting a possible association between CMT and delayed development,111,130,131 and any postural preference to one side may bias an infant for associated rotation along the spine, resulting in asymmetrical postures.152,158

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Intervention dosage The duration of physical therapy intervention and outcomes of intervention depend on the cause of the torticollis, the initial deficit of passive cervical rotation, and the age of the infant when intervention is initiated. Published intervention protocols for CMT vary considerably and are often standardized to fit research protocols. They range from cervical stretching done 2 to 3 times daily, repeating each stretch 5 to 15 times with 1- to 10-second holds,28,44 to two-person passive neck stretching exercises carried out 4 to 8 times daily with at least 30 to 40 repetitions in each set.23,41 The exact intervention dosage for clinical use will depend on the level of severity, the ability of the family to adhere to the recommended stretching protocols, and the age of the infant and his or her ability to tolerate intervention. Younger infants tolerate stretching better because they have less neck strength; infants 3 to 4 months or older are developing sufficient neck strength and willpower to resist passive stretching if they are not comfortable with the sensation or if they are intent on looking at something on the preferred side. The overall consensus across studies is that stretching should be done frequently across the day and should be tied to routines of infant carrying, playtime, diaper changes, feedings, bath times, and position changes.

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FIG. 9.15 Positions for AROM, strengthening, and

midline orientation. (A) Sitting on parent’s lap using weight shifting on right to encourage active left cervical and trunk lateral flexion via righting reactions. (B) Sitting on parent’s lap to encourage active right cervical rotation to interact with toys. Notice the parent stabilizing the trunk. (C) Facilitated sidelying play with intermittent manual assist to encourage prolonged antigravity activation of right cervical lateral flexors.

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Supplemental Physical Therapy Interventions with Evidence for CMT CMT and mild CD in most infants will respond to the first-choice interventions, but for infants with slower resolution or more severe presentations, there are other approaches described in the literature but for which the body of evidence is smaller, the study designs are less rigorous, or there may be conflicting evidence. Nevertheless, these approaches may provide useful additions to the first-choice interventions to support CMT or CD resolution. The choice of a supplemental intervention should be based on discussions with the family, the child’s current rate of improvement, the family’s ability to adhere to additional or different protocols, the family’s perceived acceptance of the approach, the clinician’s skill or training to provide the approach, potential additional costs, and the likelihood of the child’s improvement. Clinicians who use these approaches should be vigilant to document objective measures to determine their effectiveness on the degree and speed of resolution because they may add to the cost of care. Clinicians who choose to use approaches that have no peer-reviewed publications that describe foundational principles and provide evidence of effectiveness should be conscientious about receiving the informed consent of the caregivers and documenting objective measures at baseline and throughout care. All clinicians are encouraged to publish cases that are emblematic of new approaches or unusual outcomes.

Microcurrent for CMT Low-intensity alternating current (200 µA) is applied superficially over the involved SCM such that the infant does not perceive the current; stretching follows the treatment. Two small randomized controlled trials (RCTs)76,80 have demonstrated similar outcomes of increased ROM in significantly less time than with passive stretching alone or stretching combined with ultrasound diathermy. The overall episodes of care averaged 2.6 months for infants receiving microcurrent and 6.3 for those who received only stretching.80 Infants receiving microcurrent cried less during treatment than infants who did not receive it,76 and ultrasound imaging of the SCM posttreatment demonstrated significantly less

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tissue thickness of the involved SCM.80 Replication of this approach with larger sample sizes is appropriate, but microcurrent appears to be a promising approach with strong evidence for shortening the episode of care without adverse reactions. Clinicians will need to be comfortable with administering microcurrent and have the proper type and size of equipment to provide this intervention.

Myokinetic Stretching for CMT This technique consists of applying mild overpressure with 1 or 2 fingers on the SCM while it is in its lengthened position.29 PTs provided 60 repetitions over 30-minute treatment sessions, 5 times week on infants less than 50 days old; parents additionally performed home stretching, massage, and positioning. Given the young age of the subjects and the confounding factor of a home program, it is not clear if this particular technique is significantly different from any other strategy of SCM intervention; however, if other approaches are not tolerated, this study provides moderate evidence for an alternative stretching technique. Clinicians will need postgraduate training to provide this approach. Kinesiologic Taping for CMT Stretchable tape is applied to supporting muscles to provide sensory feedback. A retrospective study provides weak but promising evidence that when kinesiologic tape is applied for the purpose of relaxing the affected side, immediate Muscle Function Scale gains were significantly greater112; long-term benefits have not been reported. The approach requires postgraduate training, and some infants may have skin sensitivity to the tape. Tscharnuter Akademie for Motor Organization (TAMO) Approach for CMT A single case study describes this approach as using light touch and the infant’s responses to gravity and support surfaces to facilitate movement exploration.122 The approach was mixed with AROM, home programming, carrying techniques for passive positioning, and head righting, so it is not clear how much the TAMO approach contributed to the resolution of CMT, but there was a notable absence of PROM as an intervention. Clinicians will need

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postgraduate training to provide this approach.

Cervical Collars for CMT Several versions of neck orthoses are described in case reports but have not been rigorously assessed as to their comparative benefits over conservative management alone. All are intended to facilitate active movement within a corrected range and are not meant to be passive supports for the neck. As with other supplemental approaches, cervical orthoses may be an appropriate adjunct to conservative care if changes are occurring slowly, but they require careful application, supervision, and monitoring by the caregiver. As with all cervical collars, remove the collars immediately if there are any concerns about fit, skin irritation, or development of pressure areas. Clinicians may need postgraduate and/or supervised training to properly fit and apply selected collars. The Tubular Orthosis for Torticollis (TOT collar)44 is a cervical orthosis designed to decrease head tilt posture, assist in midline head control, and stimulate movement away from the tilted head position55 in infants with adequate head control and who demonstrate more than 5° of head tilt. The TOT collar is worn during waking hours when the infant is moving, playing, and even feeding. The clinician must be knowledgeable of the indications for, fitting of, and modifications to the TOT collar before fitting it to an infant. For example see eFig. 9-3. Soft cervical foam collars may be used for immediate postoperative management following SCM release,138 post-SCM release with physical therapy,83,84 and after Botox injections71 to protect the surgical site and facilitate movements away from the side of released SCM. The use of soft felt cervical collars was described by Binder et al.13 in infants with a persistent head tilt and restrictions in active cervical rotation.

Cranial Remolding Therapy and Positioning Devices for CD Cranial Remolding Therapy for CD Cranial remolding therapy uses cranial orthoses, helmets, or bands. Cranial orthoses are constructed from high-temperature

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thermoplastic materials, and most are lined with high-density, hypoallergenic medical grade foam.39 Cranial orthoses do not restrict cranial growth but rather redirect subsequent cranial growth into voided areas facilitating a symmetrical shape,75 as illustrated in Fig. 9.16A–B. Most cranial orthoses are custom fabricated, but soft shell helmets in generic sizes with custom foam padding are commercially available.154 Cranial orthoses are initiated from 4 to 6 months of age and worn 20 to 23.5 hours a day for 2 to 7 months for optimal outcomes.47,51 Duration of cranial remolding therapy varies based on the age of the child and severity of the CD because the rate of correction decreases logarithmically with increasing age.133 At 5 months of age, the rate of cranial asymmetry improvement is 0.93 mm per week, whereas at 8 to 11 months of age the rate of improvement stabilizes at 0.41 to 0.42 mm per week.133 Cranial remolding therapy results in more complete correction and shorter treatment duration when initiated before 6 months of age,78 but correction can occur up to 15 to 18 months of age although the correction will likely be incomplete and require a substantially longer treatment duration.75,133 After 12 months of age the rate of correction decreases due to reduced rate of skull growth and adherence issues as older infants may adamantly refuse the cranial orthotic and independently remove it.82,133 Adverse effects associated with cranial orthoses are low but include occasional malodorous perspiration, minor skin irritations and fungal infections, poor helmet fit with severe DB, nonreimbursable cost, social stigma of cranial orthotic use, and unsatisfactory cosmetic results.56 Daily cleaning of the cranial orthotic is critical to avoid skin irritations and fungal infections. Assessment for cranial remolding therapy is indicated based on the age of the child and the severity of the CD.47 It is not indicated for infants under the age of 4 months or infants at any age with mild CD that is limited to the posterior skull (Argenta DP Type I, Argenta DB Type I).47,82 Cranial orthotic assessment is indicated for infants over 4 months with severe CD that includes facial asymmetry (Argenta DP Type IV) and temporal bulging and abnormal vertical growth of the skull (Argenta DP Type V, Argenta DB Type III).82 Cranial orthotic assessment is also indicated for

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infants over 6 months with moderate CD that includes ear displacement (Argenta DP Type II), frontal bone protrusion (Argenta DP Type III), or widening of the posterior skull (Argenta DB Type II).47,82 At the cranial orthotic assessment, quantitative measures of CD are taken and a decision is made as to whether cranial remolding therapy is warranted. Some practitioners recommend an objective assessment of the infant with moderate CD at 4 months and again at 6 months to document whether 2 months of repositioning was effective in reshaping the skull; this will assist with the determination of whether cranial remolding therapy is warranted at 6 months. Refer to eFig. 9-4 for a clinical decision tree for managing CD.47

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FIG. 9.16 Examples of custom cranial orthoses. (A) En

face view of a 4-month-old infant with right congenital

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muscular torticollis and deformational plagiocephaly wearing a cranial band (B) 8-month-old infant with DP wearing a cranial helmet. ([A] Courtesy iStock.com. [B] From STARband Orthomerica, Orlando FL.)

Consistent and strong evidence supports that cranial remolding therapy is effective in reducing cranial asymmetry in infants with moderate to severe CD when implemented by 6 months of age and parents/caregivers diligently follow the prescribed wearing schedule.47,51 However, it is unknown whether cranial remolding therapy, as compared to parent education in repositioning, results in a clinically significant difference in cranial shape that affects long-term satisfaction and quality of life.47,51 The only RCT to compare cranial remolding therapy with parent education in repositioning in 5- to 6-month-old infants with moderate to severe CD did not find a statistically significant difference in cranial asymmetry between the two interventions when children were 2 years of age.162 However, only 23% to 26% of children in both groups obtained complete correction at 2 years of age, a much smaller percentage than in previous studies, perhaps because the study’s criteria for complete correction was more stringent than previous studies.162 Further high-quality evidence is needed to determine the efficacy of cranial remolding therapy as compared to parent education in repositioning.

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E-FIG. 9.3 Five-month-old infant with left congenital

muscular torticollis concordant deformational plagiocephaly fitted with a tubular orthosis for torticollis (TOT Symmetric Designs Ltd., 125 Knott Place, Salt Spring Island, BC, Canada, V8K2M4). A, The anterior strut is shorter than the posterior strut and spans vertically from the anterior angle of the mandible to the midclavicle. B, The posterior strut is longer than the anterior strut and spans vertically from the occiput at the inferior nuchal line to the superior medial angle of the scapula where the levator scapulae muscle attaches.

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E-FIG. 9.4 Clinical decision making tool for management of deformational plagiocephaly. (From Flannery ABK, Looman WS, Kemper K: Evidence-based care of the child with deformational plagiocephaly. Part II: management, J Pediatr Health Care 26:320– 321, 2012.)

Positioning Devices Positioning devices that alter the shape of the surface an infant lies on have been investigated as a means to prevent or minimize CD. These devices rest the infant’s head into a depression to redistribute contact pressure between the surface and the cranium. Although some devices have shown favorable results, such as bedding pillows,167 passive orthotic mattresses,135 cranial cups,40,128 and Plagio Cradle orthotics (Boston Brace, Avon, MA),132 others such as the Safe T Sleep Sleepwrap positioning wrap (safetsleep.com)64 have not. Although the evidence is weak and does not support that

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these devices are more effective than repositioning alone for most infants, these devices may be promising for infants with severe CD who are younger than 4 months or whose development is compromised. Additional studies are needed to determine their effectiveness as compared to conscientious repositioning, as well as the cost-effectiveness of available devices.

Nonconservative Interventions for CMT Nonconservative interventions for CMT should be considered for infants who are not progressing after 6 months of conservative intervention or for children initially referred after 1 year of age and who have Grade 7 severity.74 These options include surgery or botulinum toxin type A (Botox) for CMT. The clinician should collaborate with the infant’s primary or referring physician for follow-up care if these approaches are being considered. This form eliminates any misinterpretation that the PT is doing these interventions.

Surgery Surgical options range from tendon lengthening to unipolar or bipolar release of the SCM. Indications for surgery include persistent residual tightness of > 15°18 or progressing ROM limitations.159 The goals of surgery are to normalize neck ROM and to improve or prevent additional craniofacial asymmetry resulting from persistent asymmetrical posturing. Concerns with surgical interventions include potential damage to the facial, greater auricular, or spinal accessory nerves, visible scars, recurrent muscle band formation, loss of neck contour, and the recurrence of SCM contracture.18,19 Endoscopic surgery by an experienced surgeon avoids many of these complications by improving the operative field view with magnification, ensuring precise muscle fiber transection, and preserving the neurovascular structures.18 Children who have releases before 1 year of age have the best chance of reversing their facial and skull deformities19; however, older children and untreated adults can benefit from the procedure as well.147 Botox

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This neurotoxin is injected into the SCM and is presumed to either relax the tight muscle by inhibiting acetylcholine release or by causing muscle atrophy that allows for easier stretching.116 The use of Botox is considered off label for infants; however, there is a growing body of support for its use with recalcitrant CMT to reduce the need for surgical correction.31,71,116

Anticipated Outcomes and Discharge Criteria If left untreated, CMT is a condition that will persist and possibly progress. As the infant grows older, growth of the surrounding musculoskeletal structures can be impacted by the SCM tightness causing further restriction of range or CD.137 Infants who are discharged from physical therapy for CMT should be monitored throughout their early childhood to observe for return of tightness as they go through growth spurts; achieve antigravity milestones such as crawling or walking; during higher-stress activities such as climbing, pulling, or other resisted sporting activities; or when ill or teething.79 Parents should be alerted that temporary asymmetrical presentations will most likely resolve when the challenging factor is resolved but that a physical therapy examination may be indicated if the postural preference persists. A longer treatment duration of cranial remolding therapy may be indicated if the infant’s CD has resolved but the CMT has not; repositioning and use of a cranial orthotic during sleep may be continued until the CMT is resolved to prevent reoccurrence of cranial asymmetry. The anticipated outcomes and criteria for discharge from physical therapy intervention are: 1. Full PROM of neck, trunk, and extremities to within 5° of the nonaffected side 2. Symmetrical movement patterns throughout the passive range 3. Age-appropriate gross motor development including symmetrical movement patterns between the left and right sides during static, dynamic, and reflexive movements 4. Improved skull symmetry to Argenta Type I or referred for further management of CD 5. No visible head tilt

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6. Parents/caregivers understand what to monitor as the child grows

Summary This chapter discussed the management of CMT and CD. They are often comorbidities, and physical therapy is highly effective in resolving both CMT and CD when initiated early in infancy. A fibrotic and shortened SCM muscle is the most typical finding in CMT, resulting in rotation away from and a lateral head tilt toward the involved SCM muscle. The “back-to-sleep” campaign is thought to have spurred a growing incidence of CMT and CD. Differential diagnosis is critical to rule out other causes of asymmetrical posturing, such as neurologic, visual, or orthopedic conditions. Most infants with CMT can be successfully managed with firstchoice conservative treatments including parent/caregiver education, environmental adaptations, passive neck ROM exercises, neck and trunk AROM, and facilitation of symmetrical movement activities. The CMT severity grade assists with prognosis for the episode of care to achieve resolution. CD is typically responsive to repositioning during the early months, but cranial remolding interventions may be necessary to correct moderate to severe CD in infants older than 4 to 6 months. Physical therapy for both CMT and CD should address all aspects of the ICF framework. Evidencebased objective measures should be documented at baseline and on subsequent visits to monitor the effectiveness of home programming. Collaboration with the family and caregivers is critical for successful outcomes; referrals for specialist consults when an infant is not progressing or when red flags are identified should be coordinated with the infant’s primary physician.

Case Scenario on Expert Consult The case scenario for this chapter describes “Riley,” an infant with a classical presentation of CMT combined with CD. Data are provided for the initial evaluation and subsequent measures at 4– 6 weeks, 16 weeks, and 24 weeks in the hopes of portraying

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typical resolution of both conditions. Shared decision making throughout the episode of care strongly influences the choice of interventions and the manner of their delivery, beginning with the immediate family and eventually extending to Riley’s day care providers.

Acknowledgment Karen Karmel-Ross, PT, PCS, LMT for her valuable contributions to this chapter in all previous editions of this book.

References 1. AAP Task Force on Infant Positioning. SIDS: positioning and SIDS. Pediatrics. 1992;89:1120–1126. 2. AAP Task Force on Infant Sleep Position and Sudden Infant Death Syndrome. Changing concepts of sudden infant death syndrome: implications for infant sleeping environment and sleep position. Pediatrics. 2000;105:650– 656. 3. AAP Task Force on Sudden Infant Death Syndrome. SIDS and other sleep-related infant deaths: expansion of recommendations for a safe infant sleeping environment. Pediatrics. 2011;128:1030–1039. 4. Aarnivala H, Vuollo V, Harila V, Heikkinen T. Preventing deformational plagiocephaly through parent guidance: a randomized, controlled trial. Eur J Pediatr. 2015;174:1197– 1198. 5. Aarnivala H.E.I, Valkama A.M, Pirttiniemi P.M. Cranial shape, size and cervical motion in normal newborns. Early Hum Dev. 2014;90 425–424. 6. APTA. Guide to physical therapist practice. Phys Ther. 2001;81:1–768. 7. Argenta L. Clinical classification of positional plagiocephaly. J Craniofac Surg. 2004;15:368–372. 8. Arif-Rahu M, Fisher D, Matsuda Y. Biobehavioral measures for pain in the pediatric patient. Pain Manag

689

Nurs. 2012;13:157–168. 9. Atmosukarto M.S, Shapiro L.G, Starr J.R, Heike C.L, et al. 3D head shape quantification for infants with and without deformational plagiocephaly. Cleft Palate Craniofac J. 2010;47:368–377. 10. Ballock R.T, Song K.M. The prevalence of nonmuscular causes of torticollis in children. J Pediatr Orthopaed. 1996;16:500–505. 11. Bellieni C.V. Pain assessment in human fetus and infants. AAPS J. 2012;14:456–461. 12. Bialocerkowski A.E, Vladusic S.L, Ng C.W. Prevalence, risk factors, and natural history of positional plagiocephaly: a systematic review. Dev Med Child Neurol. 2008;50:577–586. 13. Binder H, Eng G.D, Gaiser J.F, Koch B. Congenital muscular torticollis: results of conservative management with longterm follow-up in 85 cases. Arch Phys Med Rehab. 1987;68:222–225. 14. Boere-Boonekamp M.M, van der LindenKuiper L.T. Positional preference: prevalence in infants and follow-up after two years. Pediatrics. 2001;107:339–343. 15. Boulet S.L, Rasmussen S.A, Honein M.A. A populationbased study of craniosynostosis in metropolitan Atlanta, 1989. Am J Med Genetics Part A. 2008;146A:984–991. 16. Branch L.G, Kesty K, Krebs E, Wright L, et al. Deformational plagiocephaly and craniosynostosis: trends in diagnosis and treatment after the “back to sleep” campaign. J Craniofac Surg. 2015;26:147–150. 17. Bredenkamp J.K, Hoover L.A, Berke G.S, Shaw A. Congenital muscular torticollis. A spectrum of disease. Arch Otolaryngol Head Neck Surg. 1990;116:12–16. 18. Burstein F.D. Long-term experience with endoscopic surgical treatment for congenital muscular torticollis in infants and children: a review of 85 cases. Plast Reconstr Surg. 2004;114:491–493. 19. Burstein F.D, Cohen S.R. Endoscopic surgical treatment for congenital muscular torticollis. Plast Reconstr Surg. 1998;101:20–24.

690

20. Cameron B.H.L.J.C, Cameron G.S. Success of nonoperative treatment for congenital muscular torticollis is dependent on early therapy. J Pediatr Surg. 1994;9:391–393. 21. Canale S.T, Griffin D.W, Hubbard C.N. Congenital muscular torticollis. A long-term follow-up. J Bone Joint Surg. 1982;64:810–816. 22. Cavalier A, Picot M.C, Artiaga C, Mazurier E, et al. Prevention of deformational plagiocephaly in neonates. Early Hum Dev. 2011;87:537–543. 23. Celayir A.C. Congenital muscular torticollis: early and intensive treatment is critical A prospective study. Pediatr Int. 2000;42:504–507. 24. Chen H.X, Tang S.P, Gao F.T, Xu J.L, et al. Fibrosis, adipogenesis, and muscle atrophy in congenital muscular torticollis. Medicine (Baltimore). 2014;93(23):e138. 25. Cheng J.C, Tang S.P, Chen T.M. Sternocleidomastoid pseudotumor and congenital muscular torticollis in infants: a prospective study of 510 cases. J Pediatr. 1999;134:712–716. 26. Cheng J.C, Tang S.P, Chen T.M, Wong M.W, et al. The clinical presentation and outcome of treatment of congenital muscular torticollis in infants—a study of 1,086 cases. J Pediatr Surg. 2000;35:1091–1096. 27. Cheng J.C.-Y, Metreweli C, Chen T.M.-K, Tang S.P. Correlation of ultrasonographic imaging of congenital muscular torticollis with clinical assessment in infants. Ultrasound Med Biol. 2000;26:1237–1241. 28. Cheng J.C.Y, Wong M.W.N, Tang S.P, Chen T.M, et al. Clinical determinants of the outcome of manual stretching in the treatment of congenital muscular torticollis in infants: a prospective study of eight hundred and twenty-one cases. J Bone Joint Surg. 2001;83:679–687. 29. Chon S.C, Yoon S.I, You J.H. Use of the novel myokinetic stretching technique to ameliorate fibrotic mass in congenital muscular torticollis: an experimenter-blinded study with 1-year follow-up. J Back Musculoskel Rehab. 2010;23:63–68. 30. Collett B.R, Gray K.E, Starr J.R, Heike C.L, et al. Development at age 36 months in children with

691

deformational plagiocephaly. Pediatrics. 2013;131:e109–e115. 31. Collins A, Jankovic J. Botulinum toxin injection for congenital muscular torticollis presenting in children and adults. Neurology. 2006;67:1083–1085. 32. Committee on Quality Improvement-Subcommittee on Developmental Dysplasia of the Hip. Clinical practice guideline: early detection of developmental dysplasia. Pediatrics. 2000;105(4):896–905. 33. Coventry M.B, Harris L.E. Congenital muscular torticollis in infancy some observations regarding treatment. J Bone Joint Surg. 1959;41:815–822. 34. Cunningham M.L, Heike C.L. Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 2007;19:645– 651. 35. Danby P.M. Plagiocephaly in some 10-year-old children. Arch Dis Child. 1962;37:500–504. 36. David D.J, Menard R.M. Occipital plagiocephaly. Brit J Plast Surg. 2000;53:367–377. 37. Davids J.R, Wenger D.R, Mubarak S.J. Congenital muscular torticollis: sequela of intrauterine or perinatal compartment syndrome. J Pediatr Orthoped. 1993;13:141–147. 38. de Chalain T.M.B, Park S. Torticollis associated with positional plagiocephaly: a growing epidemic. J Craniofac Surg. 2010;16:411–418. 39. de Ribaupierre S, Vernet O, Rilliet B, Cavin B, et al. Posterior positional plagiocephaly treated by cranial remodelling orthosis. Swiss Med Weekly. 2007;137:368–372. 40. Degrazia M, Giambanco D, Hamn G, Ditzel A, et al. Prevention of deformational plagiocephaly in hospitalized infants using a new orthotic device. J Obst Gynecol Neonat Nurs. 2015;44:28–41. 41. Demirbilek S, Atayurt H.F. Congenital muscular torticollis and sternomastoid tumor: results of nonoperative treatment. J Pediatr Surg. 1999;34:549–551. 42. Deskin R.W. Sandifer syndrome: a cause of torticollis in infancy. Int J Pediatr Otorhinolaryngol. 1995;32:183–185. 43. Dudkiewicz I, Ganel A, Blankstein A: Congenital muscular torticollis in infants: ultrasound-assisted diagnosis and

692

evaluation. J Pediatr Orthop 25:812–814. 44. Emery C. The determinants of treatment duration for congenital muscular torticollis. Phys Ther. 1994;74:921–929. . 45. Emery C. Conservative management of congenital muscular torticollis: a literature review. Phys Occupat Ther Pediatr. 1997;17:13–20. 46. Fearon J.A. Evidence-based medicine: craniosynostosis. Plast Reconstr Surg. 2014;133:1261–1275. 47. Flannery A.B.K, Looman W.S, Kemper K. Evidence-based care of the child with deformational plagiocephaly. Part II: management. J Pediatr Health Care. 2012;26:320–321. 48. Fletcher J.P, Bandy W.D. Intrarater reliability of crom measurement of cervical spine active range of motion in persons with and without neck pain. J Orthopaed Sports Phys Ther. 2008;38:640–645. 49. Fowler E.A, Becker D.B, Pilgram T.K, Noetzel M, et al. Neurologic findings in infants with deformational plagiocephaly. J Child Neurology. 2008;23:742–747. 50. Freed S.S, Coulter-O’Berry C. Identification and treatment of congenital muscular torticollis in infants. J Prosthet Orthot. 2004;16:S18–S23. 51. Goh J.L, Bauer D.F, Sr Durham, Stotland M.A. Orthotic (helmet) therapy in the treatment of plagiocephaly. Neurosurg Focus. 2013;35:1–6. 52. Golden K.A, Beals S.P, Littlefield T.R, Pomatto J.K. Sternocleidomastoid imbalance versus congenital muscular torticollis: their relationship to positional plagiocephaly. Cleft Palate Craniofac J. 1999;36:256–261. 53. Graham J.M, Gomez M, Halberg A, Earl D.L, et al. Management of deformational plagiocephaly: repositioning versus orthotic therapy. J Pediatr. 2005;146:258–262. 54. Graham J.M, Kreutzman J, Earl D, Halberg A, et al. Deformational brachycephaly in supine-sleeping infants. J Pediatr. 2005;146:253–257. 55. Gray G.M, Tasso K.H. Differential diagnosis of torticollis: a case report. Pediatr Phys Ther. 2009;21:369–374.

693

56. Gump W.C, Mutchnick I.S, Moriarty T.M. Complications associated with molding helmet therapy for positional plagiocephaly: a review. Neurosurg Focus. 2013;35:1–3. 57. Guo S, Roche A.F, Moore W.M. Reference data for head circumference and 1-month increments from 1 to 12 months of age. J Pediatr. 1988;113:490–494. 58. Gutierrez D, Kaplan S.L. Aligning documentation with congenital muscular torticollis clinical practice guidelines: administrative case report. Phys Ther. 2016;96:111–120. 59. Han J.D, Kim S.H, Lee S.J, Park M.C, et al. The thickness of the sternocleidomastoid muscle as a prognostic factor for congenital muscular torticollis. Ann Rehabil Med. 2011;35:361–368. 60. Haroon S, Beverley D. Congenital absence of the left sternomastoid muscle. Arch Dis Child Fetal Neonatal Ed. 2004;90:F102. 61. Hutchison B.L, Hutchison L.A.D, Thompson J.M.D, Mitchell E.A. Plagio and brachycephaly in the first two years of life: a prospective cohort study. Pediatrics. 2004;114:970–980. 62. Hutchison B.L, Hutchison L.A.D, Thompson J.M.D, Mitchell E.A. Quan of plagiocephaly and brachycephaly in infants using a digital photographic technique. Cleft Palate Craniofac J. 2005;42:539–547. 63. Hutchison B.L, Stewart A.W, Chalain T.D, Mitchell E.A. Serial developmental assessments in infants with deformational plagiocephaly. J Paediatr Child Health. 2012;48:274–278. 64. Hutchison B.L, Stewart A.W, de Chalain T.B, Mitchell E.A. A randomized controlled trial of positioning treatments in infants with positional head shape deformities. Acta Paediatr. 2010;99:1556–1560. 65. Hutchison B.L, Stewart A.W, Mitchell E.A. Characteristics, head shape measurements and developmental delay in 287 consecutive infants attending a plagiocephaly clinic. Acta Paediatr. 2009;98:1494–1499. 66.

694

Hutchison B.L, Thompson J.M.D, Mitchell E.A. Determinants of nonsynostotic plagiocephaly: a case-control study. Pediatrics. 2003;112:e316–e322. 67. Hylton N. Infants with torticollis: the relationship between asymmetric head and neck positioning and postural development. Phys Occupat Ther Pediatr. 1997;17:91–117. 68. Ifflaender S, Rüdiger M, Konstantelos D, Lange U, et al. Individual course of cranial symmetry and proportion in preterm infants up to 6 months of corrected age. Early Hum Dev. 2014;90:511–515. 69. Joganic J.L, Lynch J.M, Littlefield T.R, Verrelli B.C. Risk factors associated with deformational plagiocephaly. Pediatrics. 2009;124:e1126–e1133. 70. Joiner E.R.A, Andras L.M, Skaggs D.L. Screening for hip dysplasia in congenital muscular torticollis: is physical exam enough? J Child Orthop. 2014;8:115–119. 71. Joyce M.B, de Chalain T.M. Treatment of recalcitrant idiopathic muscular torticollis in infants with botulinum toxin type A. J Craniofac Surg. 2005;16:321–327. 72. Kabbani H, Raghuveer T.S. Craniosynostosis. Am Fam Phys. 2004;69:2863–2870. 73. Kane A.A, Lo L.-J, Vannier M.W, Marsh J.L. Mandibular dysmorphology in unicoronal synostosis and plagiocephaly without synostosis. Cleft Palate Craniofac J. 1996;33:418–423. 74. Kaplan S.L, Coulter C, Fetters L. Physical therapy management of congenital muscular torticollis: an evidence-based clinical practice guideline from the section on pediatrics of the American Physical Therapy Association. Pediatr Phys Ther. 2013;25:348–394. 75. Kelly K.M, Littlefield T.R, Pomatto J.K, Manwaring K.H, et al. Cranial growth unrestricted during treatment of deformational plagiocephaly. Pediatr Neurosurg. 1999;30:193–199. 76. Kim M.Y, Kwon D.R, Lee H.I. Therapeutic effect of microcurrent therapy in infants with congenital muscular torticollis. Phys Med Rehab. 2009;1:736–739. 77. Klackenberg E.P, Elfving B, HaglundÅkerlind Y, Carlberg E.B. Intra-rater reliability in

695

measuring range of motion in infants with congenital muscular torticollis. Advances Physiother. 2005;7:84–91. 78. Kluba S, Kraut W, Reinert S, Krimmel M. What is the optimal time to start helmet therapy in positional plagiocephaly? Plast Reconstr Surg. 2011;128:492–498. 79. Kuo A.A, Tritasavit S, Graham Jr. J.M. Congenital muscular torticollis and positional plagiocephaly. Pediatr Rev. 2014;35:79–86. 80. Kwon D.R, Park G.Y. Efficacy of microcurrent therapy in infants with congenital muscular torticollis involving the entire sternocleidomastoid muscle: a randomized placebocontrolled trial. Clin Rehab. 2014;10:983–991. 81. Lal S, Abbasi A.S, Jamro S. Response of primary torticollis to physiotherapy. J Surg Pakistan. 2011;16:153–156. 82. Laughlin J, Luerssen T.G, Dias M.S. Prevention and management of positional skull deformities in infants. Pediatrics. 2011;128:1236–1241. 83. Lee I.J, Lim S.Y, Song H.S, Park M.C. Complete tight fibrous band release and resection in congenital muscular torticollis. J Plast Reconstr Aesthet Surg. 2010;63:947–953. 84. Lee J, Moon H, Park M, Yoo W, et al. Change of craniofacial deformity after sternocleidomastoid muscle release in pediatric patients with congenital muscular torticollis. J Bone Joint Surg. 2012;94:e93–e97. 85. Lee J.-Y, Koh S.-E, Lee I.-S, Jung H, et al. The cervical range of motion as a factor affecting outcome in patients with congenital muscular torticollis. Ann Rehabil Med. 2013;37:183–190. 86. Lee Y.-T, Yoon K, Kim Y.-B, Chung P.-W, et al. Clinical features and outcome of physiotherapy in early presenting congenital muscular torticollis with severe fibrosis on ultrasonography: a prospective study. J Pediatr Surg. 2011;46:1526–1531. 87. Lightdale J.R, Gremse D.A. Gastroesophageal reflux: management guidance for the pediatrician. Pediatrics. 2013;131:e1684–e1695. 88. Likus W, Bajor G, Gruszczynska K, Baron J, et al. Cephalic index in the first three years of life: study of children with

696

normal brain development based on computed tomography. Sci World J. 2014;2014:1–6. 89. Lin J.-N, Chou M.-L. Ultrasonographic study of the sternocleidomastoid muscle in the management of congenital muscular torticollis. J Pediatr Surg. 1997;32:1648– 1651. 90. Littlefield T.R, Kelly K.M, Reiff J.L, Pomatto J.K. Car seats, infant carriers, and swings: their role in deformational plagiocephaly. J Prosthet Orthot. 2003;15:102–106. 91. Looman W.S, Flannery A.B.K. Evidence-based care of the child with deformational plagiocephaly. Part I: assessment and diagnosis. J Pediatr Health Care. 2012;26:242–250. 92. Losee J.E, Mason A.C, Dudas J, Hua L.B, et al. Nonsynostotic occipital plagiocephaly: factors impacting onset, treatment, and outcomes. J Plast Reconstr Surgery. 2007;119:1866–1873. . 93. Luxford B.K. The physiotherapy management of infants with congenital muscular torticollis: a survey of current practice in New Zealand. New Zeal J Physiother. 2009;37:127– 135. 94. Majnemer A, Barr R.G. Influence of supine sleep positioning on early motor milestone acquisition. Dev Med Child Neurol. 2005;47:370–376. 95. Majnemer A, Barr R.G. Association between sleep position and early motor development. J Pediatr. 2006;149:623–629. 96. Malviya S, Voepel-Lewis T, Burke C, Merkel S, et al. The revised FLACC observational pain tool: improved reliability and validity for pain assessment in children with cognitive impairment. Paediatr Anaesth. 2006;16:258–265. 97. Marchac A, Arnaud E, Di Rocco F, Michienzi J, et al. Severe deformational plagiocephaly: long-term results of surgical treatment. J Craniofac Surg. 2011;22:24–29. 98. Mawji A, Robinson Bollman A, Hatfield J, McNeil D.A, et al. The incidence of positional plagiocephaly: a cohort study. Pediatrics. 2013;132:298–304. 99. Meyer-Marcotty P, Bohm H, Linz C, Kochel J, et al. Spectrum of positional deformities - is there a real difference between plagiocephaly and brachycephaly? J Cranio Maxillofac Surg. 2014;42:1010–1016.

697

100. Miller R.I, Clarren S.K. Long-term developmental outcomes in patients with deformational plagiocephaly. Pediatrics. 2000;105:e26–e30. 101. Monson R.M, Deitz J, Kartin D. The relationship between awake positioning and motor performance among infants who slept supine. Pediatr Phys Ther. 2003;15:196–203. 102. Moore K.L, Dalley A.F. Clinically oriented anatomy. ed 5. Baltimore: Lippincott Williams & Wilkins; 2006. 103. Mortenson P.A, Steinbok P. Quantifying positional plagiocephaly: reliability and validity of anthropometric measurements. J Craniofac Surg. 2006;17:413–419. 104. Nellhaus G. Head circumference from birth to eighteen years: practical composite international and interracial graphs. Pediatrics. 1968;41:106–114. 105. Nucci P, Curiel B. Abnormal head posture due to ocular problems: a review. Curr Pediatr Rev. 2009;5:105–111. 106. Nucci P, Kushner B.J, Serafino M, Orzalesi N. A multidisciplinary study of the ocular, orthopedic, and neurologic causes of abnormal head postures in children. Am J Ophthalmol. 2005;140:65–68. 107. Nuysink J, van Haastert I.C, Takken T, Helders P.J.M. Symptomatic asymmetry in the first six months of life: differential diagnosis. Eur J Pediatr. 2008;167:613–619. 108. Ohman A. The inter-rater and intra-rater reliability of a modified “severity scale for assessment of plagiocephaly” among physical therapists. Physiother Theory Prac. 2012;28:402–406. 109. Öhman A, Beckung E. Functional and cosmetic status in children treated for congenital muscular torticollis as infants. Adv Physiother. 2005;7:135–140. 110. Öhman A, Mardbrink E.L, Stensby J, Beckung E. Evaluation of treatment strategies for muscle function. Physiother Theory Pract. 2011;27:463– 470. 111. Öhman A, Nilsson S, Lagerkvist A, Beckung E.R.E. Are infants with torticollis at risk of a delay in early motor milestones compared with a control group of healthy

698

infants? Dev Med Child Neurol. 2009;51:545–550. 112. Öhman A.M. The immediate effect of kinesiology taping on muscular imbalance for infants with congenital muscular torticollis. Phys Med Rehab. 2012;4:504–508. 113. Öhman A.M, Beckung E.R.E. Reference values for range of motion and muscle function of the neck in infants. Pediatr Phys Ther. 2008;20:53–58. 114. Öhman A.M, Mårdbrink E.-l, Orefelt C, Seager A, et al. The physical therapy assessment and management of infants with congenital muscular torticollis. A survey and a suggested assessment protocol for cmt. J Novel Physiother. 2013;3:165. 115. Öhman A.M, Nilsson S, Beckung E.R. Validity and reliability of the muscle function scale, aimed to assess the lateral flexors of the neck in infants. Physiother Theory Pract. 2009;25:129–137. 116. Oleszek J.L, Chang N, Apkon S.D, Wilson P.E. Botulinum toxin type A in the treatment of children with congenital muscular torticollis. Am J Physical Med Rehab. 2005;84:813– 816. 117. Panchal J, Amirsheybani H, Gurwitch R, Cook V, et al. Neurodevelopment in children with single-suture craniosynostosis and plagiocephaly without synostosis. Plast Reconstr Surg. 2001;108:1492–1498. 118. Peitsch W.K, Keefer C.H, LaBrie R.A, Mulliken J.B. Incidence of cranial asymmetry in healthy newborns. Pediatrics. 2002;110(6) e72–e72. 119. Persing J, James H, Swanson J, Kattwinkel J, et al. Prevention and management of positional skull deformities in infants. Pediatrics. 2003;112:199–202. 120. Petronic I, Brdar R, Cirovic D, Nikolic D, et al. Congenital muscular torticollis in children: distribution, treatment duration and outcome. Eur J Phys Rehabil Med. 2010;45:153– 188. 121. Pin T, Eldridge B, Galea M.P. A review of the effects of sleep position, play position, and equipment use on motor development in infants. Dev Med Child Neurol. 2007;49:858–

699

867. 122. Rahlin M. Tamo therapy as a major component of physical therapy intervention for an infant with congenital muscular torticollis: a case report. Pediatr Phys Ther. 2005;17:209–218. 123. Rahlin M, Sarmiento B. Reliability of still photography measuring habitual head deviation from midline in infants with congenital muscular torticollis. Pediatr Phys Ther. 2010;22:399–406. 124. Rekate H.L. Occipital plagiocephaly: a critical review of the literature. J Neurosurg. 1998;89:24–30. 125. Robinson S, Proctor M. Diagnosis and management of deformational plagiocephaly. J Neurosurg Pediatr. 2009;3:284–295. 126. Roby B.B, Finkelstein M, Tibesar R.J, Sidman J.D. Prevalence of positional plagiocephaly in teens born after the ‘‘back to sleep’’ campaign. Ped Otolaryngol. 2012;146:823–828. 127. Rogers G.F. Deformational plagiocephaly, brachycephaly, and scaphocephaly. Part II: prevention and treatment. J Craniofac Surg. 2011;22:17–23. 128. Rogers G.F, Miller J, Mulliken J.B. Comparison of a modifiable cranial cup versus repositioning and cervical stretching for the early correction of deformational posterior plagiocephaly. Plast Reconstr Surg. 2008;121:941– 947. 129. Rogers G.F, Oh A.K, Mulliken J.B. The role of congenital muscular torticollis in the development of deformational plagiocephaly. Plast Reconstr Surg. 2009;123:643–652. 130. Schertz M, Zuk L, Green D. Long-term neurodevelopmental follow-up of children with congenital muscular torticollis. J Child Neurol. 2012;28(10):1215–1221. 131. Schertz M, Zuk L, Zin S, Nadam L, et al. Motor and cognitive development at one-year follow-up in infants with torticollis. Early Hum Dev. 2008;84:9–14. 132. Seruya M, Oh A.K, Sauerhammer T.M, Taylor J.H, et al. Correction of deformational plagiocephaly in early infancy using the plagio cradle orthotic. J Craniofac Surg. 2013;24:376–379. 133. Seruya M, Oh A.K, Taylor J.H, Sauerhammer T.M, et

700

al. Helmet treatment of deformational plagiocephaly: the relationship between age at initiation and rate of correction. Plast Reconstr Surg. 2013;131:55–61. 134. Shamji M.F, FricShamji E.C, Merchant P, Vassilyadi M. Cosmetic and cognitive outcomes of positional plagiocephaly treatment. Clin Invest Med. 2012;35:E246–E270. 135. Sillifant P, Vaiude P, Bruce S, Quirk D, et al. Positional plagiocephaly: experience with a passive orthotic mattress. J Craniofac Surg. 2014;25:1365–1368. 136. Slate R.K, Posnick J.C, Armstrong D.C, Buncie J.R. Cervical spine subluxation associated with congenital muscular torticollis and craniofacial asymmetry. Plast Reconstr Surg. 1993;91:1187–1195. 137. Snyder E.M, Coley B.D. Limited value of plain radiographs in infant torticollis. Pediatrics. 2006;118:e1779–e1784. 138. Sönmez K, Turkyilmaz Z, Demirogullari B, Ozen I.O, et al. Congenital muscular torticollis in children. [review] [16 refs]. J Oto-Rhino-Laryngol. 2005;67:344–347. 139. Spermon J, Spermon-Marijnen R, ScholtenPeeters W. Clinical classification of deformational plagiocephaly according to Argenta: a reliability study. J Craniofac Surg. 2008;19:664–668. 140. St John D, Mulliken J.B, Kaban L.B, Padwa B.L. Anthropometric analysis of mandibular deformational posterior plagiocephaly. J Oral Maxillofac Surg. 2002;60:873–877. 141. Steinberg J.P, Rawlani R, Humphries L.S, Rawlani V, et al. Effectiveness of conservative therapy and helmet therapy for positional cranial deformation. Plast Reconstr Surg. 2015;135:833–842. . 142. Steinbok P, Lam D, Singh S, Mortenson P.A, et al. Longterm outcome of infants with positional occipital plagiocephaly. Child Nerv Sys. 2007;23:1275–1283. 143. Stellwagen L.M, Hubbard E, Chambers C, Jones K.L. Torticollis, facial asymmetry and plagiocephaly in normal newborns. Arch Dis Child. 2008;93:827–831.

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144. Stellwagen L.M, Hubbard E, Vaux K. Look for the “stuck baby” to identify congenital torticollis. Contemp Pediatr. 2004;21:55–65. 145. Storer S.K, Dimaggio J, Skaggs D.L, Angeles C.H.L, et al. Developmental dysplasia of the hip. Am Fam Phys. 2006;74:1310–1316. 146. Suzuki S, Yamamuro T, Fujita A. The aetiological relationship between congenital torticollis and obstetrical paralysis. Intl Orthopaed. 1984;8:175–181. 147. Swain B. Transaxillary endoscopic release of restricting bands in congenital muscular torticollis—a novel technique. J Plast ReconstrAesth Surg. 2007;60:95–98. 148. Tang S, Liu Z, Quan X, Qin J, et al. Sternocleidomastoid pseudotumor of infants and congenital muscular torticollis: fine-structure research. J Pediatr Orthoped. 1998;18:214–218. 149. Tang S.F.T, Hsu K.-H, Wong A.M.K, Hsu C.-C, et al. Longitudinal followup study of ultrasonography in congenital muscular torticollis. Clin Orthopaed Related Res. 2002;403:179–185. 150. Tatli B, Aydinli N, Caliskan M, Ozmen M, et al. Congenital muscular torticollis: evaluation and classification. Pediatr Neurolo. 2006;34:41–44. 151. Taylor J.L, Norton E.S. Developmental muscular torticollis: outcomes in young children treated by physical therapy. Pediatr Phys Ther. 1997;9:173–178. 152. Tessmer A, Mooney P, Pelland L. A developmental perspective on congenital muscular torticollis: a critical appraisal of the evidence. Pediatr Phys Ther. 2010;22:378– 383. 153. Thompson F, McManus S, Colville J. Familial congenital muscular torticollis: case report and review of the literature. Clini Orthopaed Rel Res. 1986;202:193–196. 154. Thompson J.T, David L.R, Wood B, Argenta A, et al. Outcome analysis of helmet therapy for positional plagiocephaly using a three-dimensional surface scanning laser. J Craniofac Surg. 2009;20:362–365. 155. Tomczak K.K, Rosman N.P. Torticollis. J Child Neurol. 2013;28:365–378.

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156. Tumturk A, Ozcora G.K, Bayram A.K, Kabaklioglu M, et al. Torticollis in children: an alert symptom not to be turned away. Child Nerv Sys. 2015;31:1461–1470. 157. Turgut M, Akalan N, Bertan V, Erbengi A, et al. Acquired torticollis as the only presenting symptom in children with posterior fossa tumors. Child Nerv Sys. 1995;11:6–8. 158. van Vlimmeren L.A, Helders P.J, van Adrichem L.N, Engelbert R.H. Diagnostic strategies for the evaluation of asymmetry in infancy-a review. Eur J Pediatr. 2004;163:185–191. 159. van Vlimmeren L.A, Helders P.J.M, van Adrichem L.N.A, Engelbert R.H.H. Torticollis and plagiocephaly in infancy: therapeutic strategies. Pediatr Rehabil. 2006;9:40–46. 160. van Vlimmeren L.A, van der Graaf Y, BoereBoonekamp M.M, L’Hoir M.P, et al. Risk factors for deformational plagiocephaly at birth and at 7 weeks of age: a prospective cohort study. Pediatrics. 2007;119:e408–e418. 161. van Vlimmeren La, van der Graaf Y, BoereBoonekamp M.M, L’Hoir M.P, et al. Effect of pediatric physical therapy on deformational plagiocephaly in children with positional preference: a randomized controlled trial. Arch PediatrAdolesc Med. 2008;162:712–718. 162. van Wijk R.M, van Vlimmeren L.A, GroothuisOudshoorn C.G, Van der Ploeg C.P, et al. Helmet therapy in infants with positional skull deformation: randomised controlled trial. Brit Med J. 2014;348:g2741. 163. von Heideken J, Green D.W, Burke S.W, Sindle K, et al. The relationship between developmental dysplasia of the hip and congenital muscular torticollis. J Pediatr Orthoped. 2006;26:805–808. 164. Wall V, Glass R. Mandibular asymmetry and breastfeeding problems: experience from 11 cases. J Hum Lactat. 2006;22:328–334. 165. Wei J.L, Schwartz K.M, Weaver A.L, Orvidas L.J. Pseudotumor of infancy and congenital muscular torticollis: 170 cases. Laryngoscope. 2001;111(4 Pt 1):688–695.

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166. Wilbrand J.-F, Schmidtberg K, Bierther U, Streckbein P, et al. Clinical classification of infant nonsynostotic cranial deformity. J Pediatr. 2012;161:1120–1125. 167. Wilbrand J.-F, Seidl M, Wilbrand M, Streckbein P, et al. A prospective randomized trial on preventative methods for positional head deformity: physiotherapy versus a positioning pillow. J Pediatr. 2013;162:1216–1221. 168. Yu C.-C, Wong F.-H, Lo L.-J, Chen Y.-R. Craniofacial deformity in patients with uncorrected congenital muscular torticollis: an assessment from three-dimensional computed tomography imaging. Plast Reconstr Surg. 2004;113:24–33.

Suggested Readings Background Cunningham M.L, Heike C.L. Evaluation of the infant with an abnormal skull shape. Curr Opin Pediatr. 2007;19:645–651. Steinberg J.P, Rawlani R, Humphries L.S, Rawlani V, et al. Effectiveness of conservative therapy and helmet therapy for positional cranial deformation. Plast Reconstr Surg. 2015;135:833–842. Suhr M.C, Oledzka M. Considerations and intervention in congenital muscular torticollis. Curr Opin Pediatr. 2015;27:75–81. Task Force on Sudden Infant Death Syndrome. SIDS and other sleeprelated infant deaths: expansion of recommendations for a safe infant sleeping environment. Pediatrics. 2011;128:1030–1039. Tessmer A, Mooney P, Pelland L. A developmental perspective on congenital muscular torticollis: a critical appraisal of the evidence. Pediatr Phys Ther. 2010;22:378–383.

Foreground Ballock R.T, Song K.M. The prevalence of nonmuscular causes of torticollis in children. J Pediatr Orthopaed. 1996;16:500–504. Flannery A.B.K, Looman W.S, Kemper K. Evidence-based care of the child with deformational plagiocephaly. Part II: management. J Pediatr Health Care. 2012;26:320–331. Gutierrez D, Kaplan S.L. Aligning documentation with congenital muscular torticollis clinical practice guidelines: administrative case report. Phys Ther. 2016;96:111–120.

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Kaplan S.L, Coulter C, Fetters L. Physical therapy management of congenital muscular torticollis: an evidence-based clinical practice guideline from the Section on Pediatrics of the American Physical Therapy Association. Pediatr Phys Ther. 2013;25:348–394. Looman W.S, Flannery A.B.K. Evidence-based care of the child with deformational plagiocephaly, part 1: assessment and diagnosis. J Pediatr Health Care. 2012;26:242–250.

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Arthrogryposis Multiplex Congenita Maureen Donohoe

Arthrogryposis multiplex congenita (AMC) is a nonprogressive neuromuscular syndrome that is present at birth. AMC is characterized by severe joint contractures, muscle weakness, and fibrosis. Although the child’s condition does not deteriorate as a result of the primary diagnosis, the long-term sequelae of AMC can be very disabling. Activity limitations in mobility and self-care skills can lead to varying degrees of participation restriction. Working with children with AMC presents the physical therapist with a variety of challenges. Many children who have AMC are bright and motivated. Physical therapists must use their knowledge of biomechanics and normal development to maximize functional skills. Proper timing for therapeutic and medical interventions helps maximize the child’s opportunities for independence. Creativity is needed to adapt equipment and the environment to allow the child with AMC to be able to participate in life roles to the fullest extent possible. In this chapter, we address the pathophysiology of AMC, its management from a medical and surgical perspective, physical therapy examination and evaluation, and specific physical therapy and team interventions used for children with AMC from infancy to adulthood.

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Background Information Incidence and Etiology Arthrogryposis, which is defined by the presence of contractures in two or more body areas, is diagnosed in 1 of every 3000 to 5000 live births.4,28,56 Many times the cause of AMC is unknown; however, the insult is believed to occur during the first trimester of pregnancy.16,26,72 It is believed insults occurring early in the first trimester have the potential for creating greater involvement of the child than those occurring late in the first trimester. The basic pathophysiologic mechanism for multiple joint contractures appears to be fetal akinesia.19,27,66 More than 150 different contracture syndromes have been mapped to specific genes. Over 400 specific conditions have been identified that relate to gene mutations and chromosomal abnormalities.21,27 Various forms of arthrogryposis are known; amyoplasia is the most commonly recognized. Newborns with congenital contractures fall evenly into three groups: one consists of amyoplasia, the second is related to the central nervous system and is lethal, and the third is a heterogeneous group. The heterogeneous group includes neuromuscular syndromes, congenital anomalies, chromosomal abnormalities, contracture syndromes, and skeletal dysplasia. Distal arthrogryposis, which affects primarily the hands and feet and is highly responsive to treatment, has a genetic basis and is inherited as an autosomal dominant trait.21,22 Gene mapping has been helpful in identifying those with arthrogryposis. Neuropathic arthrogryposis is found on chromosome 5 and can have survival motor neuron gene deletion.12,58 Distal arthrogryposis type I maps to chromosome 9.3,5 AMC is associated with neurogenic and myopathic disorders in which motor weakness immobilizes the fetal joints, leading to joint contractures. It is not known whether all those with the neuropathic form of AMC have degeneration of the anterior horn cell, but of those studied postmortem, this is a consistent finding. A neurogenic disorder of the anterior horn cell is believed to cause muscle weakness with subsequent periarticular soft tissue fibrosis.20,25,70,72 Because of failure of the muscle to function, the joints in the developing fetus lack movement, which probably explains the

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stiffness and deformities of the newborn’s joints. The fetus may have an imbalance in strength of oppositional muscle groups, creating the tendency toward a certain posture. For example, the fetus with good strength in the hamstrings and triceps brachii but weakness in the quadriceps and biceps brachii will have a flexed knee and extended elbow posture in utero. Decreased amniotic fluid throughout the pregnancy, but especially during the last trimester when the fetus is largest, may further inhibit freedom of movement in utero. Although the cause of AMC remains unknown, several factors have been implicated. Hyperthermia of the fetus is caused by a maternal fever greater than 37.8°C (100°F). Some mothers of children with AMC report having an illness with a fever for 1 to 2 days during the first trimester. Prenatal viral infection, vascular compromise of the blood supply between mother and fetus, uterine fibroid tumors, and a septum in the uterus have all been proposed as causes of AMC.26,27,28,57,72

Progress in Primary Prevention Arthrogryposis has been documented in artwork as early as the 1700s, although medical literature did not begin to address it until nearly the 1950s. Eight major categories of problems can occur during a pregnancy that could precipitate the lack of movement associated with congenital contractures; these include maternal illness or exposures, fetal crowding, neurologic deficits, vascular compromise, metabolic disturbances, neuromuscular end plate abnormalities, connective tissue abnormalities/skeletal defects, and muscle defects.28 Given its nonspecific origin, little progress has been made in prevention of this rare disorder. However, significant improvements have been made in the management of children with AMC.

Diagnosis No definitive laboratory studies can diagnose AMC prenatally, unless a familial trait is documented. Some forms of arthrogryposis have been mapped to chromosomes 5, 9, or 11.5,47,58 Most AMC cases

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occur sporadically with no known familial trait; therefore prenatal testing beyond ultrasound studies is inconsequential. Over 70% of cases of amyoplasia were missed on prenatal testing.22 If a parent or physician suspects that something is amiss, a detailed ultrasound evaluation can be helpful in identifying anomalies and decreased fetal movements. Real-time ultrasound studies lasting up to 45 minutes, repeated several times during the pregnancy, are most useful. Having an ultrasound track movement over a longer period of time helps to identify if there are limitations in movement or movement biases due to position of the fetus. Repeating this test several times helps to identify if the same movement issues are persisting throughout the pregnancy. Clues that are looked for include nuchal edema; thin, undercalcified bones; small lungs; decreased movement time after 11 weeks of gestation; limitations in the diaphragm; and structural or space limitations.21,22,27 If arthrogryposis is diagnosed during pregnancy, the mother can do some things to help exercise the baby as long as she is cleared by her physician from a health standpoint.28 These activities include deep breathing, light exercise, and daily caffeine intake to help stimulate the baby. Blood tests including a genetic microarray can be helpful in finding genetic alterations associated with arthrogryposis.4 Muscle biopsy in AMC varies with the muscle under study. Histologic analysis reveals that relatively strong muscles appear virtually normal, and very weak muscles reveal fibrofatty changes but may have normal muscle spindles. Embryologically, the muscles are formed normally, but they are replaced by fibrous and fatty tissue during fetal development.24, 26 With electromyographic testing, neuropathic and myopathic changes can be seen in different muscles in the same patient.53,58 Muscle biopsies along with blood tests and clinical findings rule out progressive and fatal disorders, while providing evidence to support the diagnosis of AMC.

Clinical Manifestations Clinical manifestations of AMC demonstrate great variability but generally include severe joint contractures and lack of muscle development or amyoplasia. The typical severely affected body

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parts in the AMC population include, in decreasing order of prevalence, the foot (78%–95%), the hip (55%–90%), the wrist (43%– 81%), the knee (38%–90%), the elbow (35%–92%), and the shoulder (20%–92%).41,48,64 Two commonly seen variations of AMC have been noted. In one type the child has flexed and dislocated hips, extended knees, clubfeet (equinovarus), internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists (Fig. 10.1). In another type the child has abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulders, extended elbows, and flexed and ulnarly deviated wrists (Fig. 10.2). Parents often describe the legs in the first type as jackknifed, and in the second type as froglike. Because of the stiffness of the joints, extremity movements are described as wooden or marionette-like. The position of the upper extremities in the second type is described as the “waiter’s tip” position owing to the internally rotated shoulder, extended elbow, pronated forearm, and flexed wrist. Common to both types are clubfeet, flexed and ulnarly deviated wrists, and internally rotated shoulders. Other associated characteristics may include scoliosis, dimpling of skin over joints, hemangiomas, absent or decreased finger creases, congenital heart disease, facial abnormalities, respiratory problems, and abdominal hernias. Intelligence and speech are usually normal. Many arthrogrypotic syndromes occur that have the main characteristics of AMC but may also involve abnormal muscle tone, webbing at contracted joints, changes in cognition, seizure activity, feeding issues not related to muscle strength or jaw opening, and limited visual skills.54,70

Medical Management The main component of medical treatment includes well-timed surgical management.25,51 Orthopedic treatment should be timed so that the child benefits optimally from the procedure. For example, clubfoot management with minimally invasive surgical techniques such as the Ponseti method should start approximately 1 month after the child is born. This allows the child to naturally stretch out and the family to become accustomed to the therapy routine before

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embarking on months of serial casting and positioning devices, allowing for plantigrade feet in time for developmentally appropriate upright activity.8,38,46,69 Ponseti method is frequently being used to address relapsing clubfeet through serial casting and minimally invasive soft tissue lengthening.50 Although becoming less common, some continue to have open surgical techniques such as the posteromediolateral release (PMLR) for clubfoot. The entire hindfoot is opened during surgery so as to shorten the lateral column, lengthen the medial column, and lengthen the tendo Achillis.49,63 Occasionally, wires are used to realign the talus and the calcaneus. If the clubfoot recurs and does not respond to serial casting, a second PMLR involves shortening the cuboid bone to help improve forefoot alignment. If the foot is tight just in the hindfoot and no forefoot adductus is noted, a distal tibial wedge osteotomy is done to realign the foot in reference to the floor. Later in life, when the child is near the end of growth, a triple arthrodesis can be performed to prevent future inversion of the foot. This involves fusing the calcaneus to the cuboid, the talus to the navicular, and the talus to the calcaneus. Use of an external fixator such as an Ilizarov procedure to address recurrent clubfoot problems has had some promising results, although no data from long-term outcome studies are presently available.11,14 Historically, in severe cases of equinovarus and in cases in which the Ilizarov procedure fails, a talectomy may be performed.13,43 Salvage procedures to correct recurrent problems are difficult, however, when a talectomy has been previously performed.42,49,63 Research supports that invasive surgical correction of feet results in stiff painful feet in adulthood.35,42 Children with AMC often have subluxed or dislocated hips. Dislocation is as frequently bilateral as unilateral. One dislocated hip is usually relocated to prevent secondary pelvic obliquity and scoliosis, unless the hip is extremely stiff.55,62 Given that these hips tend to have poor acetabular development, if both hips are dislocated, they are not always surgically reduced because of the risk of continued unilateral dislocation even after open reduction. Careful evaluation of dislocated hips is necessary before surgical intervention is undertaken because if the hips are very tight into extension, limiting sitting ability, they will be even tighter after

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surgery. If the hips are dislocated high and posterior, with poor bony elements for the acetabulum, satisfactory surgical reduction may not be possible. Those who surgically reduce arthrogrypotic dislocated hips most commonly perform the surgery during the first year of life and use an anterolateral approach.44,55,62,64,65 Szoke and colleagues65 advocate early open reduction with a medial approach because resultant hip stiffness was greater for those who were older at the initial surgery. Yau and colleagues73 found that open reduction was necessary to have success in treating dislocated hips because closed reduction in children with AMC was never successful. It may be more important to have mobile, painless, yet dislocated hips than to have very stiff but located ones. Prolonged immobilization following open or closed techniques can lead to the serious sequelae of fused or stiff hips.1

FIG. 10.1 Infant with arthrogryposis multiplex

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congenita with flexed and dislocated hips, extended knees, clubfeet (equinovarus), internally rotated shoulders, flexed elbows, and flexed and ulnarly deviated wrists. (From Moore KL, Persaud TVN, Torchia MG: The developing human. 9th ed. Philadelphia, Saunders, 2013. Courtesy of Dr. AE Chudley, Section of Genetics and Metabolism, Department of Pediatrics and Child Health, Children’s Hospital and University of Manitoba, Winnipeg, Manitoba, Canada.)

FIG. 10.2 Infant with arthrogryposis multiplex

congenita with abducted and externally rotated hips, flexed knees, clubfeet, internally rotated shoulders, extended elbows, and flexed and ulnarly deviated wrists. (From Bamshad M, Van Heest AE, Pleasure D: Arthrogryposis: a review and update, J Bone Joint Surg Am 91[Suppl 4]:40-46, 2009.)

Moderate to severe contractures of the knee joint can be

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addressed surgically, but through the conservative approach, one waits until the child is ambulating comfortably before performing surgical correction. Knee flexion contractures are most commonly associated with capsular changes within the joint. Medial and lateral hamstring lengthening or sectioning (if the muscle is fibrosed), along with a posterior capsulotomy of the knee joint, may be performed.48,66 These contractures respond inconsistently to hamstring lengthening and posterior capsulotomy because subsequent loss of muscle strength and risk of scar tissue lead to further joint stiffness and recurrence of the contracture. A distal femoral osteotomy is more frequently successful in realigning the joint and changes the arc of motion without risk of increased scar tissue and loss of strength17 (Fig. 10.3). Growing children with moderate knee flexion contractures do well with distal femoral anterior epiphysiodesis. This procedure is done when the child is large enough to accept the surgical hardware but small enough to have adequate growth available, usually after the child is 5 years old but before 11 years of age. It allows the posterior aspect of the femur to continue to grow while the anterior aspect remains unchanged (Fig. 10.4). The angle of the femur results in apparent knee straightening.37,40,52 Severe knee flexion contractures are often addressed through the use of external fixators to distract the joint and slowly elongate the tissues.11,34,68 Knee extension contractures frequently have associated patellar subluxation.10 Patellar realignment is done before the fifth birthday to allow the femoral groove to develop with growth.10 Later in life, extension contractures are addressed by quadriceps lengthening if at least 25° of range of motion (ROM) is observed in the knee. Intraarticular procedures such as a capsulotomy may be necessary if the knee is stiff.33 Some evidence suggests that surgery to address knee extension contractures results in better outcomes than surgery to address knee flexion contractures.61 An important consideration before surgical intervention is determination of whether the limitation in ROM is creating problems with sitting or walking and, if so, if surgical intervention will likely improve the child’s function. For example, if the legs extend straight out when sitting, this position may interfere with activities such as sitting at school desks or riding in a car and as a result may decrease participation at

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school and in the community. The child should participate in decisions regarding surgical interventions as appropriate for his or her age. Restrictions in shoulder movement are rarely addressed through surgical interventions such as capsular or soft tissue release because the musculature is usually inappropriate for transfer. If adequate muscle strength and control are present, surgery may be indicated to place wrists and elbows in positions of optimal function. One scenario involves a child with symmetrical weakness or severe contractures of the upper extremities. In this case a dominant arm can be identified for feeding (postured in flexion) and the other arm for hygiene care (postured in extension).71 If both arms were postured in extension, surgery would be necessary to position one arm in a functional flexion position. Such surgical considerations would include a pectoralis or triceps brachii transfer to give a child active elbow flexion with a posterior capsulotomy to allow for elbow flexion.2,66 The muscle under consideration for transfer would need to be strong before transfer with adequate passive elbow flexion could present. A consistent passive ROM and stretching program from birth is essential to maintain elbow motion for this type of surgery to be successful.

FIG. 10.3 Diagram of a distal femoral wedge

osteotomy performed to realign the contracted knee

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joint. (A) Knee flexion contracture deformity before surgery. (B) Distal femoral wedge osteotomy for reduction of the knee flexion deformity. (C) Realignment after surgery.

FIG. 10.4 Diagram of guided growth for knee

contracture management. (A) Knee flexion contracture deformity before surgery. (B) Distal femoral anterior epiphysiodesis for reduction of the knee flexion deformity. (C) Realignment after surgery.

Wrists can be fused in positions for function if conservative splinting and stretching management have been unsuccessful. Wrists are fused in dissimilar positions. Before a surgical wrist fusion, casting of the wrist for 1 week in the position of the potential fusion is suggested. During this time, the child’s functional ADL (activity of daily living) skills are assessed while the child is wearing the cast to ascertain the appropriateness of this potential surgery. Surgical management through carpectomies or dorsal wedge osteotomies of the carpal bones should be considered only if finger function will be enhanced.2 Scoliosis is frequently managed conservatively with bracing. In about one fifth of children and adolescents with AMC, a long Cshaped thoracolumbar scoliosis develops.66 If the curve continues to

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progress, surgical fusion should be considered. Those with a progressive congenital scoliosis have done well with the use of the vertical expandable prosthetic titanium rib implant for correcting scoliosis while allowing a significant amount of growth.31 Most commonly, a posterior spinal fusion is performed when the child is close to puberty. On large stiff curves, an anterior release of structures limiting spinal mobility may be necessary before posterior spinal fusion to obtain satisfactory results.74 The type of fixation used is based on the preference of the orthopedic surgeon (see Chapter 8).

Foreground Information Body Structures and Functions Diagnosis and Problem Identification The primary impairments in the child with AMC are limitations of joint movement and decreased muscle strength and bulk. Joint contractures are evident at birth, although a formal diagnosis of AMC may not be given at that time. In AMC, limitation of movement typically is seen in two or more joints in different body areas.27 In the amyoplasia form of arthrogryposis, 85% have symmetrical presentation of contractures.27,28 Contractures can develop from an imbalance in muscle pull of agonist and antagonist muscles but also occur when symmetrical weakness is present on all sides of the joint, thus hindering movement. Theoretically, this may be indicative of the point in fetal development at which the insult occurs. For example, because flexors develop before extensors in the upper extremity, a child may develop elbow flexion contractures but does not develop the usual strength in either the biceps or the triceps brachii subsequent to the time of insult. Decreased muscle bulk is evidence of muscle weakness secondary to decreased functioning motor units in a muscle. Histologic analysis of muscles reveals nonspecific changes in the muscle such as fibrofatty scar tissue. Weakened muscles often have a fat layer around the muscle with dimpling of the skin. A muscle with a contracture but of normal strength through its available

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ROM may not have normal muscle bulk secondary to its inability to be active throughout the entire ROM.

Problem Identification by the Team The team evaluation establishes a baseline from which to set realistic and functional goals. In addition to physical therapists, the primary intervention team consists of patients and their families and such medical professionals as orthopedists and geneticists, occupational therapists, and orthotists. Occasionally, speech pathologists, dentists or oral surgeons, neurologists, neurosurgeons, and ophthalmologists are consulted as well. One of the goals of the primary team is to educate the family about AMC. Families are taught that arthrogryposis is a nonprogressive disorder but that without positioning, stretching, and strengthening, or possible surgery, the child’s impairments could lead to further activity limitations and participation restrictions in later life (Table 10.1). TABLE 10.1 International Classification of Functioning, Health, and Disability for Children With Arthrogryposis Multiplex Congenita

During the initial examination by the team, photographs and videos are taken of the child, illustrating the child’s position of comfort and specific contractures such as clubfeet. This is an objective way to document changes that occur during growth and throughout splinting procedures and should be repeated every 4 months for the first 2 years. In physical therapy, baseline goniometry is performed, documenting passive ROM and the resting position of each joint. ROM can be measured with a standard goniometer cut down to

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pediatric size. Active ROM is measured at the hips, knees, shoulders, elbows, and wrists. If possible, the same therapist consistently measures ROM for the child. Intratester and intertester reliability is determined for all therapists who evaluate children with AMC and should be checked annually. Functional active ROM is also assessed to assist with visualizing the whole composite of motions and evaluating functional abilities. For example, functional active ranges include assessment of hand to mouth, ear, forehead, top of head, and back of neck. A formal manual muscle test is performed when appropriate. Muscle grades for infants and very young children are ascertained by using palpation, observing the ability of extremities to move against gravity, and evaluating gross motor function. The strength of the extensor muscles of the lower extremities is especially important in determining the appropriate level of bracing. Less than fair (grade 3/5) muscle strength in hip extensors will require bracing above the hip. Less than fair (grade 3/5) strength in knee extensors will require bracing above the knee. Corrected clubfeet require molded braces during growth to minimize problems of recurrent clubfeet. Children with poor upper extremity function and weak lower extremities may not be functional community ambulators as a result of decreased motor control and protective responses. Power mobility may be the most appropriate means of community locomotion. Gross motor skills and functional levels of mobility and ADL are assessed. No current developmental tests have been designed specifically for children with AMC, but these children usually score lower than average on formal gross motor tests secondary to inadequate strength and ROM in their extremities. Certain gross motor skills may never be attained owing to physical limitations. For example, some developmental milestones such as creeping may not be attained, even though the child is able to stand and is beginning to walk. Cognitively, children with AMC tend to score average to above average in formal developmental tests.55,60 The physical therapist assesses the child for current and potential modes of functional mobility. This may include ambulation with assistive devices or the use of a manual or power wheelchair or mobility devices. The therapist evaluates movement patterns and

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muscle substitutions used to accomplish each motor task or ADL skill. Therapists should address a child with AMC from a biomechanical approach because having limb segments aligned for mechanical advantage maximizes function and ultimately participation. Following the examination, short-term and long-term goals are developed by the team related to splinting, stretching, developmental stimulation, orthopedic management including a surgical plan, and bracing. Incorporating the family early on as part of the team is important to maximize the child’s independence in ADL and mobility.

Physical Therapy in Infancy Babies born with contracture syndromes have most significant involvement in the newborn period because they have had limited mobility in utero, so benefit from early opportunities to stretch out and remold. It is important to be aware that a large population of newborns have early feeding issues caused by structural abnormalities at the jaw and tongue.54 Great variability can be seen in the presentation of contractures; however, two more common body types have been noted. One body type involves clubfeet, hip flexion contractures, knee extension contractures, shoulder tightness (especially internal rotation), and elbow and wrist flexion contractures. At birth, these children are commonly breech presentations. Another body type often associated with the amyoplasia type of AMC exhibits posturing of hips widely abducted, flexed, and externally rotated, flexed knees, clubfeet, internally rotated shoulders, extended and pronated elbows, and flexed wrists. Asymmetrical posturing of the extremities, which is especially problematic at the hip when dislocation of only one hip is present, occurs. The resulting asymmetry makes surgical correction the treatment of choice to relocate the hip and secondarily prevent pelvic obliquity and scoliosis. Children who are born with rocker-bottom feet and multiple contractures often have a syndrome with associated arthrogryposis and benefit from further genetic workup to possibly identify the specific contracture syndrome.

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Examination Formal assessment of an infant with arthrogryposis begins as soon as possible after birth. The assessment consists of goniometry of passive ROM with reevaluation of ROM done on a monthly basis during this period. The therapist also documents the presence and strength of muscles based on observation of the child’s movements and palpation of muscle contractions. Muscles of the trunk and upper and lower extremities are evaluated. Formal developmental assessment tools are used occasionally but reflect poorly on a child with contractures because strength and ROM limitations preclude the achievement of many motor milestones. Delayed motor milestones may result in activity limitations and participation restrictions when children with AMC are compared with healthy peers on standardized developmental tests. Motor milestones in these children are often delayed or skipped. For example, good trunk control and balance, coupled with weak upper extremities in compromised positions, results in development of the ability to sit-scoot rather than creep for early floor mobility. Functional mobility and the mechanism used in attaining this mobility are more important to evaluate than is assignment of a developmental level or score. The therapist assesses activities such as rolling, prone tolerance, sitting control, scooting, creeping, crawling, transitional movements, and standing tolerance and upright mobility. Occupational therapy (OT) plays a key role in assessing feeding, ADL skills, and manipulation of objects. Physical therapists also assess the fit of any supportive or assistive devices that may be used. Another key role of therapists dealing with young children who have arthrogryposis is to track clubfoot alignment. Early recognition and aggressive treatment of clubfoot relapse may limit immobilization time. Although it is not imperative to use formal scales in assessing motor development and documenting activity restrictions, some useful tests include the Alberta Infant Motor Scale, the Bayley Scales of Infant Development, and the Peabody Developmental Motor Scales. The Pediatric Evaluation of Disability Inventory (PEDI), Patient Reported Outcomes Measurement Information System (PROMIS), and the WeeFIM (Functional Independence Measure for Children) may be used to measure activity and

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participation (see Chapter 2 for more information on these measurement tools). Use of such tools helps to identify baseline skills and areas of need for treatment planning. Use of standardized testing helps not only for baseline but allows for tracking change over time, qualifying a child for support services, and identifying if therapeutic intervention is making a measureable change in functional skills. See Chapter 2 for more specific information on these and other tests and measures. Physical therapy goals for very young children include maximizing strength, improving ROM, and enhancing general sensorimotor development. Education of the family emphasizes instruction in proper positioning, stretching techniques, and the avoidance of potentially harmful activities that feed into deformity.

Intervention Strategies Intervention strategies focus on improving alignment to maximize the biomechanical advantage for strengthening and reducing the joint contracture through stretching, serial casting, foot abduction braces, thermoplastic serial splinting, and positioning activities. Interventions address developmental skills and teaching compensatory strategies) especially in ADL and alternative modes of mobility) to maximize participation in age-appropriate activities.

Development, Strength, and Mobility Infants with the first type of AMC described earlier begin life with limited positioning options as a result of hip flexion contractures. Consequently, stretching hip flexors and prone positioning are encouraged within the first 3 months of life. Developmentally, these infants learn to roll or scoot on their bottoms as their primary means of floor mobility because it is nearly impossible to comfortably assume the quadruped position without reinforcing a flexed posture of the upper extremities. Although delayed in their ability to attain sitting independently, they are often able to do so by 15 months of age using trunk flexion and rotation. These children typically are able to stand when placed well before they initiate pulling to stand. If the child has dislocated hips that have been surgically reduced in the first year, the child may have

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significant stiffness initially, limiting willingness to change position from sitting to standing. Usually, the child begins to walk with assistance, an assistive device, and lower extremity orthotics around 18 months of age; most are independent ambulators by the middle of their second year of life. Initially, infants with the amyoplasia type of AMC have more positioning options due to their hip and knee flexion contractures. Some have difficulty with prone positioning because of elbow extension contractures that limit their ability to comfortably prop. A towel roll or wedge under the infant’s chest assists with increasing tolerance for this position. Positioning the hips in neutral rotation and neutral abduction is encouraged. Towel rolls can be placed along the lateral aspect of the thighs when the infant is sitting, and a wide Velcro band can be strapped around the thigh when the child is lying supine to keep the legs in more neutral alignment (Fig. 10.5). Developmentally, these children tend to be a little slower in attaining rolling but faster in attaining sitting and scooting than children with the first type of posturing. Although assuming the quadruped position and creeping are often feasible for this type of child, sitting and scooting are more energy efficient. Depending on muscle strength and the amount of bracing needed for standing, these children may never perform transitional movements from sitting on the floor to standing independently. They begin ambulating by the middle of their second year but require a significant amount of bracing for success. Independence with ambulation may take years and sometimes is not fully accomplished. Therapy focuses on addressing some key functional motor skills, such as rolling, sitting, sit-scooting, standing, and strengthening those muscles that assist in maintaining posture. The goal is to maximize mobility to enhance participation in ageappropriate activities but with an eye toward skills necessary for lifelong independence.

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FIG. 10.5 This child with arthrogryposis multiplex

congenita is wearing a wide Velcro band strapped around the thigh to keep the legs in more neutral alignment.

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Strengthening during the first 2 to 3 years is most frequently addressed through developmental facilitation and play. Dynamic strengthening of the trunk can be achieved by having the child reach for, swipe at, or roll toys in the positions of sitting and static standing or while straddling the therapist’s leg so that the child must rotate the trunk. These maneuvers incorporate stretching and strengthening into the therapeutic play activity. Aquatic therapy is often helpful for strengthening and developing functional mobility skills. If working on upright control in the pool, knee splints, specifically for use in the water, are helpful when bracing is needed on land, too. One way to determine whether functional training is having a strengthening effect is to ascertain the child’s improved ability to perform the task. Self-care skills, feeding, and manipulation of objects are dependent on hand function and elbow flexibility. Children with limited upper extremity strength may have decreased ability to manipulate objects. Fortunately, these children tend to be resourceful in using other body parts, such as their feet or mouth, to manipulate objects when hands have inadequate strength and ROM. These skills are quite useful early in life but not as useful in an older child. If the child has adequate ROM but inadequate strength, the child learns to support the arm on a leg or a table to assist in bringing hand to mouth. If the child is unable to get hand to mouth, adaptive equipment may make it possible to do some self-feeding. For example, if shoulder strength is absent, overhead arm slings are fashioned out of polyvinyl chloride piping and added to the high chair to permit finger feeding. If the upper extremities are postured in elbow extension, a typical and effective method of grasping an object is with a hand crossover maneuver, which affords some control and strength in holding or lifting an object. Electronic toys can be adapted so that the child can operate them via switches that can be activated by movement of the head, hand, or foot. These compensatory intervention strategies help to enhance skills needed for independence in ADL.

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FIG. 10.6 Child who has arthrogryposis multiplex

congenita in a standing frame.

Standing is an important component of physical therapy during

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the first and second years. Families are encouraged to begin standing the child at approximately 6 months of age, as is normally done with children without physical limitations. If a child is in casts with knees flexed, upright positioning continues to be an important component of therapy because it helps to strengthen the trunk for standing once casts are removed. Standing is best completely upright rather than angled toward supine or prone because it helps develop skill in the biomechanical alignment necessary to stand without external support. During standing, splints can be used to maintain the lower extremities in adequate alignment. Shoes can be wedged to accommodate plantar flexion deformities and to allow the child to bear weight throughout the plantar surface of the foot. Standing is initiated in a standing frame and progresses to independent static standing in the frame (Fig. 10.6). A therapist may need to be creative to work on standing with a child who is wearing a foot abduction brace, but use of the brace should not limit work on standing skills. By 1 year of age, a child should be able to tolerate a total of 2 hours a day in the standing frame. This standing helps the child begin self-stretching of the feet and encourages emerging independent standing and walking skills. Use of a prone stander is usually avoided because this type of stander does not encourage dynamic trunk control, and therefore the child is less likely to be working on the skills needed to stand outside the stander. Dynamic standing is encouraged through ball games such as kicking a soccer ball or batting a ball off a tee. Floor-to-stand activities usually do not begin to emerge until the child is ambulating securely, and sit-to-stand activities from a low chair usually begin to emerge when ambulation begins. Limitations in lower extremity strength and ROM can be addressed through splinting and bracing while the child is standing. Knee extension splints may be worn to compensate for weakness of knee extensors and mediolateral instability of the knees.

Stretching and Splinting Stretching programs for joint contractures are imperative and should be taught to parents and caregivers from the time of the initial examination. This intervention strategy addresses one of the

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primary impairments of AMC. A stretching program is divided into 3 to 5 sets a day with three to five repetitions during each set. Each stretch is held for 20 to 30 seconds. With the realization that this is a significant time commitment, families are taught to incorporate stretching into times when the child would normally have one-onone time with the caregiver, such as performing lower extremity stretches during diaper changes and upper extremity stretches during feeding. Dressing and bath times also provide good opportunities for stretching, especially once the child is self-feeding and out of diapers. Stretching must be a daily lifelong commitment for a person with arthrogryposis, but consistent stretching is most critical during the growing years and especially within the first 2 years of life.63 To maintain the prolonged effect of the stretch, the extremity is maintained in a comfortable position of stretch with thermoplastic splints. Attempting to maintain the maximum stretch, rather than a comfortable position, over prolonged periods will cause skin breakdown and intolerance to splints. Splints are adjusted for growth and improvements in ROM, usually every 4 to 6 weeks during infancy. When ankle-foot orthoses (AFOs) are fabricated for clubfeet, the calcaneus must be aligned in a neutral position because this will affect the position of the entire foot. If the calcaneus is allowed to move medially with respect to the talus, the forefoot will fall into an undesirable varus position. When the hindfoot and the forefoot are in a neutral position between varus and valgus, splinting can address insufficient dorsiflexion of the hindfoot rather than forefoot. This will prevent the potential problem of a midfoot break resulting in a rocker-bottom foot. To be maximally effective, AFOs are worn 22 hours per day. Knee contractures are addressed early using splinting and stretching. For the first 3 to 4 months, anterior thermoplastic knee flexion splints for extension contractures or posterior knee extension splints for knee flexion contractures are worn up to 20 hours per day. For an older infant with knee extension contractures, it is advised that children not wear a knee flexion splint at greater than 50° of flexion for sleeping because this may encourage hip flexion contractures. Older babies with knee extension contractures should use the knee flexion splints for activities that require flexion,

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such as sitting in the car seat or the high chair, or when positioned in prone, utilizing knee flexion and the splint to enhance the quadruped position. Knee extension splints, which control knee flexion contractures or medial-lateral instability, are initially worn up to 18 hours a day, especially during sleep. Once the child is older than 6 months of age, the knee extension splints can be used for standing activities because they encourage optimal lower extremity alignment during upright activity. Splints to control knee flexion contractures should be off 6 hours a day to allow floor mobility in a child with emerging skills. Newborns are provided with cock-up wrist splints, but splints for hands are generally provided only after 3 months of age. This allows the child to integrate the normal physiologic flexion before placing a stimulus across the palm. Two sets of hand splints are fabricated. For day use the child wears dorsal cock-up splints with a palmar arch in a position of neutral deviation and a slight stretch into extension as tolerated. This allows the child to have fingers available to manipulate toys. For night wear, the splint is a dorsal cock-up splint with a pan to allow finger stretching when the child is sleeping. When considering elbow splinting, note that function and independence in ADL are improved when one elbow is able to flex adequately to reach the mouth and one elbow is in adequate extension to reach the perineum. Other factors to consider include available muscle strength and ROM, response to stretching, and potential future surgical procedures. Elbow extension splints are best worn while sleeping, but elbow flexion splints and elbow flexion-assist splints tend to be most functional when worn during the day. This allows the child to experiment with the hand in a more functional position for most play activities.39 Young children respond most readily to conservative treatment using serial splinting, frequent stretching, and proper positioning. In Fig. 10.7A, the infant’s posture is shown without leg splints. In Fig. 10.7B, the infant’s lower leg is held out of the deforming postures through molded thermoplastic knee and AFO splints. The key to successful intervention for contractures is family education. Family education begins during the initial evaluation as caretakers not only are given general information about arthrogryposis but

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also receive information regarding their child’s specific needs. Appropriate stretching exercises for involved joints are given with sketches or photographs to supplement the verbal instructions. Subsequent visits to the physical therapist allow work on splint fabrication and modification and positioning. Developmental play ideas are incorporated into the exercises to help the child progress developmentally. Physical therapists also work with the family to adapt age-appropriate toys to stimulate the child both physically and cognitively.

Physical Therapy in the Preschool Period During the preschool period, the child’s functional abilities and age-appropriate participation vary according to the degree of involvement. Poor upper extremity function from the contractures and lack of muscle strength may limit the child’s independence in feeding, dressing, and playing, at a time when typical peers are relishing their independence. This may be particularly distressing for the parents, who become more aware of the magnitude of their child’s limitations when the child is no longer an infant in whom dependency is expected. Structural limitations impeding participation in age-appropriate activities during this stage are similar to those found in the younger child. Restriction in joint ROM continues to be a problem secondary to rapid growth changes. Independent ambulation is often limited by poor protective responses of the upper extremities.

Examination Passive and active ROM continues to be closely monitored by the physical therapist and caregivers. Proper fit of orthotics and splints is imperative in providing adequate stretch and positioning to impede the development of further deformities.

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FIG. 10.7 (A) A child who has arthrogryposis multiplex

congenita without leg splints. (B) The same child’s lower extremity is held out of the deforming positions through the use of molded thermoplastic knee splints and ankle-foot orthoses.

Functional muscle strength is an important component in the preschooler because it determines to a great degree the extent of bracing necessary and the level of independence in self-care skills. Formal manual muscle testing32,36 becomes more appropriate during this period because the child can comprehend verbal instructions. When testing strength, it is important to grade the resistance throughout the arc of motion because the child with AMC will frequently be strong in the midrange but unable to move the extremity to the shortened end range. This finding is significant because the end range is where the child needs to work the muscle to maintain stretch of the antagonist muscles. Examination of gait function should include distance, use of assistive devices (including braces and shoe adaptations, as well as upper extremity support), speed, symmetry of step length, gait deviations, and muscle activity. Increased lateral trunk sway is not uncommon with arthrogryposis.9 Some children ambulate as their

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primary means of locomotion; others rely on a stroller for community mobility. Despite research that supports powered mobility for the very young,56,67 mobility with wheelchairs is not usually addressed until school age, when slow speed of ambulation, endurance, and safety concerns may preclude the child from interacting with peers. These children are bright and will often forgo ambulation for power mobility if it is presented too early. Forgoing ambulation early may limit standing for functional activities later in life.

Goals Ability rather than disability must be stressed, with a strong emphasis on assisting the child through problem solving rather than through physical assistance. The ultimate goals for this age are to reduce the disability and enhance independent ambulation and mobility with minimum bracing and use of assistive devices. Physical and environmental structural barriers may limit achievement of some fine and gross motor skills, but social skill attainment is paramount. Another goal is for the team to work together to improve the child’s function in basic ADL skills.

Intervention Strategies The team will work together during the preschool period to solve basic ADL challenges, such as independent feeding and toileting. For example, the use of a lightweight reacher may assist with dressing skills. Preschoolers usually can self-feed with adaptive equipment.30 These children are often toilet trained but lack the ability to perform the task independently. At times, orthopedic surgical intervention will be used to help gain better biomechanical alignment of joints. These surgeries initially may change the focus of the therapeutic intervention, but ultimately, the focus and the goal remain the same because surgical intervention is done to enhance position and function.

Stretching The need for stretching at this age continues to be addressed

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despite the preschooler’s decreased tolerance to passive stretching three to five times a day. Two times a day for the stretching program is more realistic and appears to maintain ROM adequately in most cases. Families report that the best time for this is during dressing and bathing, which incorporates the program into an automatic part of the daily routine. Children can be taught how to assist with stretching through positioning. The child is also encouraged to verbally participate in the program, for example, by counting the number of repetitions. AFOs and positional splints continue to be worn to maintain the achieved positions. Independent mobility in a safe and efficient manner is important for the preschooler to achieve and enhance social skills, as well as allow functional mobility. Independent ambulation with supportive bracing and with as few assistive devices as possible is stressed. Children with adequate strength and ROM who do not require bracing to walk generally need an AFO to prevent recurring clubfoot deformities. Older preschoolers with AMC are generally at the level of bracing that will be continued throughout school age.

Orthotics Most orthotics are fabricated from lightweight polypropylene although those with less foot deformity may use carbon fiber braces. Children with knee extension contractures tend to require less bracing than those with knee flexion contractures. If there is any question about the child’s ability to maintain an upright position without hip support, the child’s first set of long leg braces, a hip-knee-ankle-foot orthosis, will include a pelvic band. This type of orthosis is used for several reasons. The family may perceive that the child is regressing if initially unsuccessful ambulating occurs without the pelvic band, and later a band is added for ambulation success. The pelvic band encourages neutral rotation and abduction of the lower extremities. The pelvic band can also facilitate full available hip extension, and the hips can be locked in that position for prolonged standing. Use of a pelvic band allows a pivot point for the trunk to move into extension to help with posterior weight shift on the stance side during gait. Once the child is ambulating with both hips unlocked, without jackknifing at the hips during

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stance, the pelvic band can be removed. Maintaining hip strength, especially when the pelvic band is removed, continues to be important. One activity is to have the child begin static and dynamic standing on the tilt board. The child also begins taking steps forward, backward, and sideways. Strengthening, as with progressive resistive exercises, may be appropriate at this time. Clinical experience suggests that muscles may increase in strength by one half to a full muscle grade with exercise. Ideally, the least amount of bracing is optimal, but if decreasing the bracing requires the child to use an assistive device that was previously unnecessary, increased bracing may be more appropriate. A child with strong extensors such as the gluteus maximus and quadriceps is more functional than a child who requires bracing as a functional substitute for the extensors. The child with a good deal of bracing has difficulty donning and removing braces and usually is dependent for locking and unlocking hip and knee joints for standing and sitting. Those children who learn to walk may be limited in their independence if they do not have adequate strength and ROM to manipulate the assistive device, such as a walker, that is required to ambulate. Walkers are often heavy and cumbersome for the child, who may have inadequate protective responses in standing and upper extremity limitations. Thermoplastic material can be molded to the walker for forearm support when hand function is limited, affording the child added support and control (Fig. 10.8). Many children prefer to walk with someone rather than use a walker while they are gaining confidence in ambulatory skills. When learning to stand and walk, it is of utmost importance that the child learn how to use the head and trunk to stand and balance and then to weight shift for limb advancement. If a child uses a gait trainer and leans on the device to move it, without regaining balance, he or she may not be training in the skills necessary to stand and balance for functional transfers for a lifetime. Use of a gait trainer that enhances the opportunity to stand upright and weight shift (Fig. 10.9) while relying on the support as a “safety net,” rather than leaning into it, may produce better long-term functional outcomes in upright for transfers and ADL. Careful evaluation of ambulation

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potential is needed when one is deciding on an assistive device for ambulation. Some walkers will give independence in exercise walking but will not translate into greater independence outside the walker.

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FIG. 10.8 Thermoplastic forearm supports can be

customized to the walker.

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FIG. 10.9 Child with arthrogryposis multiplex congenita

wearing polypropylene hip-knee-ankle orthosis and using a gait trainer that allows dynamic weight shift.

Children with weak quadriceps and knee flexion contractures tend to ambulate with locked knee and ankle-foot orthoses. These braces can be fabricated with dial knee locks so that the knee position can be adjusted to coincide with the changing state of the knee flexion contracture. This will afford the ongoing opportunity to stretch out the contracture. Shoes may need external wedges to compensate for hip and knee flexion contractures that interfere with static standing.7 If the brace cannot stand in the wedged shoe, the

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child cannot be expected to balance in the brace with the shoes. The child should be able to comfortably balance with the feet plantigrade without upper extremity support. Families may require assistance in identifying and removing environmental barriers that impede the child’s independence both in the home and in the preschool environment. Children in this age group are encouraged to participate in activities with children the same age in preschool, day care, and swimming classes and in other peer group activities. They are encouraged to develop relationships with children who do not have disabilities, as well as with those who do. These early relationships help to enhance lifelong participation in integrated activities with peers. During the preschool period, many states mandate therapy services for children with special needs. Preschool services, as well as additional therapy services, are imperative for maximizing these children’s skills for the demands they will encounter during school.

Physical Therapy During the SchoolAge and Adolescent Periods The focus of physical therapy moves from the outpatient clinic into the classroom at this stage. Most children are enrolled in regular classrooms in their neighborhood schools, although they may have adaptive physical education, physical therapy, occupational therapy, and speech services to enhance the educational process. Participation in school and classroom activities may be impeded by limitations in mobility. At school, children have increased demands to travel longer distances and move in groups under limited time frames. Alternative means of mobility such as a motorized wheelchair or a scooter may be needed to enhance independence while managing materials (such as books and personal effects) with minimal outside assistance. Efficient and independent dressing, feeding, and toileting abilities take on a more compelling nature. Joint contractures continue to be problematic, especially through the last few growth spurts. This is a time when the adolescent is becoming more independent in self-care, and adult monitoring of contractures tends to decrease.

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Examination The school therapist acts as a team member, addressing goals of the child and family with regard to enhancing the child’s educational experience. The physical therapy examination determines what types of training and adaptive equipment are needed to achieve educational objectives. Functional ADL skills are assessed to ascertain how efficiency and independence can be improved. The School Function Assessment (SFA)15,45 is a tool that is helpful in identifying functional skill levels in the school environment and in identifying activities for individualized educational plan (IEP) goals so that physical therapy interventions can ultimately allow for greater participation of the child at school. The Activity Scale for Kids (ASK) is a self-report tool that may be helpful in defining where a child is having greatest limitations in functional skills at home and in the community.75 See Chapter 2 for more information on these examination tools.

Goals During this period the child with AMC must be responsible for selfcare and for an exercise program to be performed to the best of the child’s ability. If the child is physically unable to do these tasks, it is still important to be able to orchestrate care through verbal instructions to a caregiver. The family must also become more responsible for expecting and allowing the child to be more independent. The goal of independence in mobility and keeping up with friends is important in the development of peer relationships. Early school-based goals should include ability to independently participate in one to three playground activities during recess. ROM is not an educational goal, but it continues to be a focus to maximize long-term function. The child with AMC will lose motion if he or she does not continue to stretch throughout the growing years. As sitting requirements for education increase, hip and knee flexion contractures also can increase if positioning options to enhance extension are not addressed. Final growth spurts, coupled with increased sitting requirements for education, can result in a significant loss of extension at the knees and the hips. If the schoolage child is not conscientious about night splint use and positioning

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for stretch, the ability to walk may be lost during the teen years. Surgical intervention to regain ambulation skill during the second decade of life is not always an option.

Intervention Strategies Dressing, toileting, and feeding may require adaptive equipment or setup for the child to be independent. Children with AMC require some selective pieces of adaptive equipment for achieving independence, but most are adaptable and innovative in using compensatory strategies rather than relying on assistive devices to achieve their goals. Frequently, classroom chairs and tables must be at custom-made heights to accommodate rising from a chair without manipulating brace knee locks. The desktop may need to be adjusted so that the child, by using a mouth stick or a wrist aid to hold writing implements, can maneuver items on the desk or write (Fig. 10.10). Assistive technology is quite helpful for those with limited hand function to perform school work on a computer, although management of the computer may be challenging for a child who changes classes. Implementation of ideas such as these limits disability by providing the child with successful compensatory strategies (Table 10.2). Continued adherence with the customized splinting and stretching program is expected. Children at this age may lose a few degrees of motion during growth, but further regression may result in loss of skills that previously were not a problem when more motion was available. Surgical intervention is sometimes helpful for improving joint position. A self-stretching program, utilizing assistive straps, braces, and positioning, can be incorporated into the child’s routine to promote independence in attaining goals. The adolescent must be permitted to help plan his or her schedule, or adherence can be expected to be poor. Adaptive physical education in school, as well as adaptive sports programs outside school, can be adjunctive to physical therapy for promoting strength, endurance, and mobility.23 During adolescence and through adulthood, the importance of maintaining a healthy weight is imperative because weight gain can significantly limit one’s mobility and ultimately one’s independence. Vocational

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rehabilitation may be a helpful adjunct in assisting those with physical limitations to access future employment opportunities.

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FIG. 10.10 Child who has arthrogryposis multiplex

congenita using a wrist aid to hold a crayon.

Speed and safety in independent mobility are important in the development of peer relationships. Families may be advised during this time to consider powered mobility devices as an adjunct to manual mobility devices. Cumbersome bracing, inefficient gait, and poor upper extremity function can limit a child’s ability to participate in playground or social activities.18 Alternative modes of mobility may allow the child to participate safely. Use of alternative modes need not preclude ambulation but rather provides supplemental mobility for safety and energy conservation. Most children can achieve functional household ambulation but may require a wheelchair for efficient community mobility. The importance of standing and walking skills for maximal independence in the bathroom cannot be overstressed. TABLE 10.2 Recommended Measures for Children with Arthrogryposis

Transition to Adulthood 742

Little has been published about the transition from childhood to adulthood for the person who has arthrogryposis. Several authors29,59 have published surveys focused on issues related to aging. Results indicated that activity limitations during adulthood were related to continued problems with ROM and strength that consequently limited independence in ADL, ambulation, and mobility. Those who required assistance with ADL during their school-age years continued to require assistance throughout their lifetime but were able to achieve a degree of independence with feeding, dressing, and grooming using selected assistive ADL devices. Those with severe joint involvement had long-term dependency on others for ADLs.18,29,60 Pain appears to be a significant issue that occurs with aging. Most survey respondents reported difficulty with back and neck pain and increased discomfort in other joints as well.59 Those who have had surgical intervention for clubfeet can expect pain and stiffness to develop during the adult years.35 Some specific problems that occur in adults include arthritic changes in weight-bearing joints and overuse syndromes in muscles and joints that are used for compensation or unique postures. Osteoarthritis, carpal tunnel problems, and neuropathies may develop as a result of prolonged joint constrictions and deformities. Increasing muscle weakness with increasing age has been found to occur, starting in early adulthood.59 Mobility problems emerging later in life may stem from secondary degenerative changes and muscle overuse syndromes.25,53 Manual or power wheelchairs may be used more commonly by adults than by adolescents and teenagers. Adults with AMC often use a wheelchair as their primary mode of mobility for long distances. Advanced education is of utmost importance so that the adult with AMC becomes trained in a specialized skill or field. The type of work chosen will depend on the degree of activity limitations, education, and marketable skills. Computer-related work and occupations that do not rely on manual labor should be considered as employment options. Advancements in technology allow those with arthrogryposis to have opportunities that enhance their freedom of mobility and their career options. Assistive technology, including computers and voice-activated equipment, can be of

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value in helping the individual safely and efficiently achieve work and leisure goals. Many people who have arthrogryposis who are artistically talented use their skills in painting and drawing for vocation and avocation. Many of the barriers that the adult with AMC will meet are physical barriers. Although the Americans with Disabilities Act has helped, transportation continues to limit access to vocational and avocational activities. Those who live near strong public transportation systems or who have access to an automobile with proper adaptations have better opportunities for participation in activities outside the home. Personnel at adult rehabilitation facilities are probably unfamiliar with AMC owing to the small number of adults who consistently seek care during adulthood. These facilities can provide services regarding assistive technology, seating systems, and orthotics, as well as help in funding for supportive equipment and services.

Intervention Strategies Once skeletal growth has stopped, stretching is not as imperative, but maintaining flexibility and proper positioning is encouraged to impede the further development of deformities. Those with AMC who used orthoses during the school-age years typically continue to do so throughout adulthood. Those who used only AFOs for clubfoot control tend not to need these orthoses once growth is complete. Dressing and, most important, donning of shoes are often the last skills achieved because abandoning bracing allows for easier dressing of the lower body. Information about the long-term sequelae of AMC in relation to degenerative changes, mobility levels, and use of adaptive ADL devices is critical to providing the most effective therapy to persons with AMC. Joint conservation and addressing the secondary impairments resulting from degenerative changes that occur in adulthood are necessary to maximize long-term independence. Research regarding the extent of independence of children, adolescents, and adults who have AMC is lacking in the areas of ADL, use of manual or power wheelchairs, and ambulation ability. This lack of data may be a result of the fact that children are

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followed early on within a medical model that addresses their primary orthopedic concerns, but when they transfer to the educational setting and require less medical intervention, they are lost to follow-up. To meet the objective of providing the most appropriate intervention to this population, a nationwide database on functional outcomes, mobility, and associated long-term problems should be established. Those who do enter the physical therapy system are often referred because of pain management issues. Pain is most likely due to overuse injuries, as well as to inefficient strategies for ADL. The emphasis of therapy should be placed on energy conservation, assistive devices to enhance efficiency, and the primary issue leading to the referral. As adults who have contracture syndromes age, they have secondary complications of being sedentary; therefore education on lifelong fitness opportunities needs to be investigated to help with cardiovascular fitness and weight management (Table 10.3). TABLE 10.3 Interventions Based on International Classification of Functioning, Health, and Disability for Individuals With Arthrogryposis

Summary Arthrogryposis poses a variety of challenges for the health care

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team throughout the patient’s lifetime. Although AMC is nonprogressive, its sequelae can limit participation in even basic ADLs. Variability in clinical manifestations has been noted, but severe joint contractures and lack of muscle development are hallmarks of the disease. Each stage of development requires special attention for maximizing the child’s function. An early goal of the team is to educate the family about AMC and to create the understanding that, without intervention, the child’s body structure and functional skills could lead to further limitation in activity throughout a lifetime. Early medical and therapeutic management includes vigorous stretching, splinting, positioning, and strengthening, all of which will allow the child to develop optimal positions for functional ADL and will enhance motor skill development. Timing of surgical procedures is critical to minimize intervention while maximizing benefit. Each age has challenges on which physical therapy can have a positive impact. During infancy, motor milestones are often delayed or skipped, and determining functional mobility is more important than ascribing a developmental level. Intervention strategies focus on maximizing postural alignment through serial splinting and strengthening and on facilitating developmental activities. Ambulation is a preliminary primary goal, but once the child reaches school age, the focus shifts toward more independent, functional, and safe mobility. During the school-age years, the child must become more responsible for stretching exercises because stretching is an integral part of the program throughout the growing years. The team emphasizes assisting the child with problem solving and working toward independent mobility. Adaptive equipment is often necessary to allow the child with AMC to be independent in mobility and self-care. A comprehensive and integrated team approach is critical in developing strategies to meet these challenges. Ultimately, the goal is to have the child who has arthrogryposis grow to be an adult who is as independent as possible and an active participant in the community.

Case Scenarios on Expert Consult The case scenarios related to this chapter address two case

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scenarios. Both focus on management over time, emphasizing mobility and function. They also highlight episodic care and educationally based services. Will’s case begins as an infant and progresses to age 18 and Joseph, with video as a younger child, is followed from early intervention through early school age.

Acknowledgment Special thanks to Dr. Robert Wellmon for insight, support, and a view on the diagnosis that is forever helpful.

References

1. Asif S, Umer M, Beg R, Umar M. Operative treatment of bilateral hip dislocation in children with arthrogryposis multiplex congenita. J Orthop Surg. 2004;12:4–9. 2. Axt M.W, Niethard F.U, Doderlein L, Weber M. Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. J Pediatr Orthop B. 1997;6:179– 185. 3. Bamshad M, Bohnsack J.F, Jorde L.B, Carey J.C. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. 1996;65:282–285. 4. Bamshad M, Van Heest A.E, Pleasure D. Arthrogryposis: a review and up-date. J Bone Joint Surg Am. 2009;91(Suppl 4):40–46. 5. Bamshad M, Watkins W.S, Zenger R.K, Bohnsack J.F, Carey J.C, Otterud al. A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Genet. 1994;55:1153–1158. 6. Reference deleted in proofs. 7. Bartonek A, Lidbeck C.M, Pettersson R, Weidenhielm E.B, Eriksson M, Farewik E. Influence of heel lifts during standing in children with motor disorders. Gait Posture. 2011;34(3):426– 431.

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Boehm S, Limpaphayom N, Alaee F, Sinclair M.F, Dobbs M.B. Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. J Bone Joint Surg Am. 2008;90:1501– 1507. 9. Bohm H, Dussa C.U, Multerer C, Doderlein L. Pathological trunk motion during walking in children with amyoplasia: is it caused by muscular weakness or joint contractures? Res Dev Disabil. 2013;34(11):4286–4292. 10. Borowski A, Grissom L, Littleton A.G, Donohoe M, King M, Kumar S.J. imaging of the knee in children with arthrogryposis and knee extension or hyperextension contracture. J Pediatr Orthop. 2008;28:466–470. 11. Brunner R, Hefti F, Tgetgel J.D. Arthrogrypotic joint contracture at the knee and the foot: correction with a circular frame. J Pediatr Orthop B. 1997;6:192–197. 12. Burglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, et al. Survival motor neuron gene deletion in arthrogryposis multiplex congenita-Spinal Muscular Atrophy Association. J Clin Invest. 1996;98:1130–1132. 13. Cassis N, Capdevila R. Talectomy for clubfoot in arthrogryposis. J Pediatr Orthop. 2000;20:652–655. 14. Choi I.H, Yang M.S, Chung C.Y, Cho T.J, Sohn Y.J. The treatment of recurrent arthrogrypotic club foot in children by the Ilizarov method. J Bone Joint Surg Br. 2001;83B:731– 737. 15. Coster W.J, Deeney T, Haltiwanger J, Haley S.M. School function assessment. San Antonio, TX: The Psychological Corporation; 1998. 16. Darin N, Kimber E, Kroksmark A, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. 2002;140:61–67. 17. DelBello D.A, Watts H.G. Distal femoral extension osteotomy for knee flexion contracture in patients with arthrogryposis. J Pediatr Orthop. 1996;16:122–126. 18.

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Dillon E.R, Bjornson K.F, Jaffe K.M, Hall J.G, Song K. Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop. 2009;29:214–217. 19.

Dimitraki M, Tsikouras P, Bouchlariotou S, Dafopoulos A, Konstantou E assessment of arthrogryposis. A review of the literature. J Matern Fetal Neonatal Med. 2011;24(1):32–36. 20. Drummond D.S, Siller T.N, Cruess R.L. Management of arthrogryposis multiplex congenita. In: AAOS instructional lectures. vol. 23. St. Louis: Mosby; 1974:79–95. 21. Fassier A, Wicart P, Dubousset J, Seringe R. Arthrogryposis multiplex congenita: long-term follow-up from birth until skeletal maturity. J Child Orthop. 2009;3:383–390. 22. Filges I, Hall J.G. Failure to identify antenatal multiple congenital contractures and fetal akinesia—proposal of guidelines to improve diagnosis. Prenat Diagn. 2013;33(1):61–74. 23. George C.L, Oriel K.N, Blatt P.J, Marchese V. Impact of a community-based exercise program on children and adolescents with disabilities. J Allied Health. 2011;40(4):e55– e60. 24. Hall J.G. Genetic aspects of arthrogryposis. Clin Orthop. 1985;194:44–53. 25. Hall J.G. Arthrogryposis. Am Fam Phys. 1989;39:113–119. 26. Hall J.G. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997;6:157–166. 27. Hall J.G, Aldinger K.A, Tanaka K.I. Amyoplasia revisited. Am J Med Genet A. 2014;164A(3):700–730. 28. Hall J.G. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principals. Eur J Genet. 2014;57:464–472. . 29. Hartley J, Baker S, Whittaker K. Living with arthrogryposis multiplex congenita: a survey. APCP J. 2013;4(1):19–26. 30. Haumont T, Rahman T, Sample W, King M.M, Church C, Henley J, Jaya robotic exoskeleton: a novel device to maintain arm improvement in muscular disease. J Pediatr

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Orthop. 2011;31(5):e44–e49. 31. Hell A.K, Campbell R.M, Hefti F. The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children. J Pediatr Orthop B. 2005;14:287–293. 32. Hislop H.J, Montgomery J, eds. Daniels Worthingham’s muscle testing: techniques of manual examination. ed 8. Philadelphia: Elsevier Science; 2007. 33. Ho C.A, Karol L.A. The utility of knee releases in arthrogryposis. J Pediatr Orthop. 2008;28:307–313. 34. Hosny G.A, Fadel M. Managing flexion knee deformity using a circular frame. Clin Orthop Rel Res. 2008;466:2995– 3002. 35. Ippolito E, Farsetti P, Caterini R, Tudisco C. Long-term comparative results in patients with congenital clubfoot treated with two different protocols. J Bone Joint Surg Am. 2003;85A:1286–1294. 36. Kendall F.P, McCreary E.K, Provance P.G. Muscle testing and function. ed 5. Baltimore: Lippincott, Williams Wilkins; 2005. 37. Klatt J, Stevens P.M. Guided growth for fixed knee flexion deformity. J Pediatr Orthop. 2008;28:626–631. 38. Kowalczyk B, Lejman T. Short-term experience with Ponseti casting and the Achilles tenotomy method for clubfeet treatment in arthrogryposis multiplex congenita. J Child Orthop. 2008;2:365–371. 39. Kozin S.H. Congenital differences about the elbow. Hand Clin. 2009;91:277–291. 40. Kramer A, Stevens P.M. Anterior femoral stapling. J Pediatr Orthop. 2001;21:804–807. 41. Lampasi M, Antonioli D, Donzelli O. Management of knee deformities in children with arthrogryposis. Musculoskelet Surg. 2012;96(3):161–169. 42. Legaspi J, Li Y.H, Chow W, Leong J.C. Talectomy in patients with recurrent deformity in clubfoot. J Bone Joint Surg Br. 2001;83B:384–387. 43. Letts M, Davidson D. The role of bilateral talectomy in the management of bilateral rigid clubfeet. Am J

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Orthop. 1999;28:106–110. 44. MacEwen G.D, Gale D.I. Hip disorders in arthrogryposis multiplex congenita. In: Katz J, Siffert R, eds. Management of hip disorders in children. Philadelphia: JB Lippincott; 1983:209–228. 45. Mancini M.C, Coster W, Trombly C.A, Heeren T.C. Predicting participation in elementary school of children with disabilities. Arch Phys Med Rehabil. 2000;81:339–347. 46. Morcuende J.A, Dobbs M.B, Frick S.L. Results of the Ponseti method in patients with clubfoot associated with arthrogryposis. Iowa Orthop J. 2008;28:22–26. 47. Moynihan L.M, Bundey S.E, Heath D, et al. Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet. 1998;62:1123– 1128. 48. Murray C, Fixsen J.A. Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop B. 1997;6:186–191. 49. Niki H, Staheli L, Mosca V.S. Management of clubfoot deformity in amyoplasia. J Pediatr Orthop. 1997;17:803–807. 50. Nogueira M.P.1, Ey Batlle A.M, Alves C.G. Is it possible to treat recurrent clubfoot with the Ponseti technique after posteromedial release? A preliminary study. Clin Orthop Relat Res. 2009;467(5):1298–1305. 51. Palmer P.M, MacEwen G.D, Bowen J.R, Matthews P.A. Passive motion therapy for infants with arthrogryposis. Clinic Orthop Rel Res. 1985;194:54–59. 52. Palocaren T, Thabet A, Rogers K, Holmes L, Donohoe M, King M, Kum distal femoral stapling for correcting knee flexion contracture in children with arthrogryposis-preliminary results. J Pediatr Orthop. 2010;30:169–173. 53. Riemer G, Steen U. Amyoplasia: a case report of an old woman. Disabil Rehabil. 2013;35(11). 54. Robinson R.O. AMC: feeding, language and other health

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problems. Neuropediatrics. 1990;21:177–178. 55. Sarwark J.F, MacEwen G.D, Scott C.I. Amyoplasia (a common form of arthrogryposis). J Bone Joint Surg Am. 1990;72:465–469. 56. Schiulli C, Corradi-Scalise D, DonatelliSchulthiss M.L. Powered mobility vehicles as aides in independent locomotion for very young children. Phys Ther. 1988;68:997–999. 57. Sells J.M, Jaffe K.M, Hall J.G. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. 1996;97:225–231. 58. Shohat M, Lotan R, Magal N, Shohat T, FishelGhodsian N, Rotter J, Jaber L. A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter. Am J Hum Genet. 1997;61:1139–1143. 59. Sneddon J. AMC aging survey. Avenues. 1999;10:1–3. 60. Sodergard J, Ryoppy S. The knee in arthrogryposis multiplex congenita. J Pediatr Orthop. 1990;10:177–182. 61. Sodergard J, HakamiesBlomqvist L, Sainio K, Ryoppy S, Vuorinen R. Arthrogryposis multiplex congenital: perinatal and electromyographic findings, disability, and psychosocial outcome. J Pediatr Orthop B. 1997;6:167–171. 62. Staheli L.T, Chew D.E, Elliot J.S, Mosca V.S. Management of hip dislocations in children with AMC. J Pediatr Orthop. 1987;7:681–685. 63. Staheli L.T, Hall J.G, Jaffe K.M, Paholke D.O. Arthrogryposis: a text atlas. New York: Cambridge Press; 1998. 64. Stilli S, Antonioli D, Lampasi M, Donzelli O. Management of hip contractures and dislocations in arthrogryposis. Musculoskelet Surg. 2012;96(1):17–21. 65. Szoke G, Staheli L.T, Jaffe K, Hall J. Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis. J Pediatr Orthop. 1996;16:127–130. 66. Tachdjian M.O. Arthrogryposis multiplex congenita (multiple congenital contractures). In: Tachdjian M, ed. Pediatric orthopedics. Philadelphia: WB Saunders; 1990:2086–2114.

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67. Tefft D, Guerette P, Furumasu J. Cognitive predictors of young children’s readiness for powered mobility. Dev Med Child Neurol. 1999;41:665–670. 68. van Bosse H.J, Feldman D.S, Anavian J, Sala D.A. Treatment of knee flexion contractures in patients with arthrogryposis. J Pediatr Orthop. 2007;27:930–937. 69. van Bosse H.J, Marangoz S, Lehman W.B, Sala D.A. Correction of arthrogrypotic clubfoot with a modified Ponseti technique. Clin Orthop Rel Res. 2009;467:1283–1293. 70. Vanpaelmel L, Schoenmakers M, van Nesselrooij B, Pruijs H, Helders P. Multiple congenital contractures. J Pediatr Orthop B. 1997;6:172–178. 71. Williams P.F. The elbow in arthrogryposis. J Bone Joint Surg Br. 1973;55:834–840. 72. Wynne-Davies R, Williams P.F, O’Conner J.C.B. The 1960s epidemic of arthrogryposis multiplex congenita. J Bone Joint Surg Br. 1981;63:76–82. 73. Yau P.W, Chow W, Li Y.H, Leong J.C. Twenty-year follow up of hip problems in arthrogryposis multiplex congenita. J Pediatr Orthop. 2002;22:359–363. 74. Yingsakmongkol W, Kumar S.J. Scoliosis in arthrogryposis multiplex congenita: results after nonsurgical and surgical treatment. J Pediatr Orthop. 2000;20:656–661. 75. Young N.L, Williams J.I, Yoshida K.K, Wright J.G. Measurement properties of the Activities Scale for Kids. J Clin Epidemiol. 2000;53:125–137.

Suggested Readings Background Bamshad M, Van Heest A.E, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91(Suppl 4):40–46. Hall J.G. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principals. Eur J Genet. 2014;57:464–472.

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Hall J.G, Aldinger K.A, Tanaka K.I. Amyoplasia revisited. Am J Med Genet A. 2014;164a(3):700–730.

Foreground Azbell K, Dannemiller L. A case report of an infant with arthrogryposis. Pediatr Phys Ther. 2015;27(3):293–301. . Bartonek A, Lidbeck C.M, Pettersson R, Weidenhielm E.B, Eriksson M, GutierrezFarewik E. Influence of heel lifts during standing in children with motor disorders. Gait Posture. 2011;34(3):426–431. Bohm H, Dussa C.U, Multerer C, Doderlein L. Pathological trunk motion during walking in children with amyoplasia: is it caused by muscular weakness or joint contractures? Res Dev Disabil. 2013;34(11):4286–4292. Dillon E.R, Bjornson K.F, Jaffe K.M, Hall J.G, Song K. Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop. 2009;29:214–217. Fassier A, Wicart P, Dubousset J, Seringe R. Arthrogryposis multiplex congenita: long-term follow-up from birth until skeletal maturity. J Child Orthop. 2009;3:383–390. Haumont T, Rahman T, Sample W, M King M, Church C, Henley J, Jayakumar S. Wilmington robotic exoskeleton: a novel device to maintain arm improvement in muscular disease. J Pediatr Orthop. 2011;31(5):e44–e49. Lampasi M, Antonioli D, Donzelli O. Management of knee deformities in children with arthrogryposis. Musculoskelet Surg. 2012;96(3):161–169. Mancini M.C, Coster W, Trombly C.A, Heeren T.C. Predicting participation in elementary school of children with disabilities. Arch Phys Med Rehabil. 2000;81:339–347. Sawatzky B. Long term outcomes of individuals born with arthrogryposis Available at: URL. http://icord.org/studies/2015/02/longterm-outcomes-of-individuals-born-with-arthrogryposis/. van Bosse H.J, Marangoz S, Lehman W.B, Sala D.A. Correction of arthrogrypotic clubfoot with a modified Ponseti technique. Clin Orthop Rel Res. 2009;467:1283–1293.

Additional Resources Arthrogryposis Multiplex Congenita Support, Inc: www.AMCsupport.org Avenues: TAG: The Arthrogryposis Group: www.TAGonline.org/uk

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Osteogenesis Imperfecta Maureen Donohoe

Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue. Other terms in the literature used to describe OI include fragilitas ossium and brittle bones. OI has an incidence of 1 in 10,000– 20,000 births.57,75 This disorder comprises a number of distinct syndromes and has great variability in its manifestations. The salient impairments of OI are lax joints, weak muscles, and diffuse osteoporosis, which result in multiple recurrent fractures. These recurring fractures, which can be sustained from even minimal trauma, when coupled with weak muscles and lax joints, result in major deformity. Additional impairments in OI with variable presentation include blue sclerae, dentinogenesis imperfecta, deafness, hernias, easy bruising, and excessive sweating. Dentinogenesis imperfecta is a defect in the dentin and the dentinoenamel junction of the tooth. Often the enamel is normal, but teeth initially look gray, bluish, or brown because of the dentin defect. These teeth have a higher incidence of cracking, wear, and decay as the enamel cracks away from the dentin. Primary teeth are often more affected than adult teeth.62 Without early and adequate intervention, these problems in children with OI may lead to irreversible deformities and disability. Physical therapy can have a positive impact on these children and their families. Therapists can accomplish this through strengthening

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exercises, conditioning activities, adapting the environment, educating caregivers, and encouraging activity participation across a lifetime. Early physical therapy and medical interventions help prevent deformities and long-term functional limitations. Children and adolescents with OI are often overprotected as a result of recurring fractures, which can contribute to social isolation. Some have difficulty interacting in peer play, adjusting to regular school, and achieving an independence level necessary to accomplish vocational goals. Most children with OI have average or above-average intelligence and greatly benefit from a stimulating educational environment. These children become adults who are usually productive members of society.79 Management of their disabilities should be directed toward obtaining optimal independence, social integration, and educational achievement. The overall prognosis of OI and its long-term sequelae depend on the severity of the disease, which ranges from very mild to severe. Likewise, disability ranges from relatively mild with no deformities to extremely severe, with death occurring at birth or shortly thereafter. In this chapter, we address the classification and pathophysiology of OI, medical and surgical interventions, physical therapy examination, evaluation, and interventions from infancy through adulthood. A case scenario of a child with OI is presented on Expert Consult.

Background Information Classification OI is a heterogeneous collection of impairments with varying severity, marked by fragility of bone. Clinically, many types of OI present similarly. Despite this, OI is not a single genetic disorder but rather an array of different disorders based on a complement of information, including clinical presentation, genetic testing, and histologic analysis. Prior to gene mapping, classification was based on clinical presentations and historically divided into three classifications, OI congenita (OIC) and OI tarda type I (OIT type I) and OI tarda type

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II (OIT type II), with OIC being the most severe and disabling form.26,43,64,68 It is characterized by numerous fractures at birth, dwarfism, bowing or deformities of the long bones, blue sclerae (80% of cases), and dentinogenesis imperfecta (80% of cases). Infants with OIC have a poor prognosis, with a high mortality rate resulting from intracranial hemorrhage at birth or recurring respiratory tract infections during infancy.74 OIT is considered the milder form of OI, in which fractures occur after birth. It has been subclassified on the basis of the degree of bowing of the extremities or the number of fractures.74 Clinical characteristics of OIT type I include dentinogenesis imperfecta, short stature, and bowing of only the lower extremities. Most with OIT type I can ambulate but may need external support such as orthotics. Surgery is often indicated for correction of the long bone deformity. OIT type II is the least disabling form of OI, where fractures are not associated with bowing of the bones. Most of these children approach average height and have an excellent prognosis for ambulation. In 1978, Sillence and Danks delineated four distinct genetic types of OI. This numeric classification system is based on clinical presentation, radiologic criteria, and mode of inheritance and is generally well accepted by clinicians, as well as basic scientists.69 The Sillence Classification uses a numeric system that correlates with morphologic and biochemical studies of OI.68 With the onset of gene mapping and better databases for tracking the OI population, Glorieux expanded the classification to 11 distinct categories that help with medical management of the individual with OI.6,32,75. Most of the first four types of OI are considered autosomal dominant in inheritance.68–70 The first four types of OI are caused by a defect in type I collagen structure that can be tracked back to a mutation in the genes COL1A1 and COL1A2 located on chromosomes 7 and 17. These genes are responsible for encoding the two alpha chains that make up type I collagen genes.29,60 The other classifications of OI, types V through VIII, do not have a type I collagen defect but do have significant bone fragility and present clinically similar to types with the collagen defect.31,33,35,61 Physical therapists are most likely to see types I, III, IV, V, VI, XI, mild versions of VII, as well as possibly the severe forms of type VIII, IX,

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and X. Types II, VII, VIII, IX, and X have lethal versions where some therapists may meet the baby briefly in the NICU.

OI Type I OI type I makes up 50% of the total OI population.31 It is characterized by markedly blue sclerae throughout life, generalized osteoporosis with bone fragility, joint hyperlaxity, and presenile conductive hearing loss. Patients are generally short but are not as short as those with other forms of OI. At birth, weight and length are normal; short stature occurs postnatally. Dentinogenesis imperfecta is variably present. Those with OI type IA have normal teeth, and those with OI type IB have dentinogenesis imperfecta. Fractures may be present at birth (10%) or may appear at any time during infancy and childhood.68 The frequency and development of skeletal deformity are also variable.

OI Type II Based on the Sillence Classification, OI type II is not compatible with life, and infants may be stillborn or may die within a few weeks. Extreme bone fragility occurs with minimal calvarial mineralization. Marked delay of ossification of the skull and facial bones is noted, and the long bones are crumbled.74 Infants are small for their gestational age and have characteristic short, curved, and deformed limbs.

OI Type III According to the Sillence Classification, OI type III usually is autosomal dominant, but on the rare occasion it is recessive. This form is severe, with progressive deformity of the long bones, skull, and spine, resulting in very short stature. Abnormal growth plate lines give the long bones a popcorn-like appearance.53 Usually, severe bone fragility, moderate bone deformity at birth, multiple fractures, and severe growth retardation are noted. OI type III appears similar to OI type II, except that the lack of skull ossification is not as marked, and birth weight and length are within normal range. Sclerae in OI type III have a variable hue, tending to be bluish at birth and becoming less so with age.

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Dentinogenesis imperfecta occurs in 45% of patients with OI type III, and hearing loss is common. As a result of the complications of severe kyphoscoliosis and resulting respiratory compromise, death may occur in childhood.

OI Type IV OI type IV is characterized by mild to moderate deformity and postnatal short stature. Bone fragility and deformities of the long bones of variable severity are noted. Dentinogenesis imperfecta is common in type IV while hearing loss is variable. The prognosis for ambulation in this population is excellent.12

OI Type V In 2000, Glorieux first described the autosomal dominant OI type V. It is characterized by hypertrophic calcification of fractures and surgical osteotomies. Many patients have calcification of the interosseous membrane of the radius and ulna, ultimately limiting supination/pronation of the forearm. OI type V represents 5% of the moderate-to-severe cases of OI.31-33,61

OI Type VI OI type VI is autosomal recessive and extremely rare and presents with moderate-to-severe deformity, similar to OI type IV, but with normal teeth and sclera. No abnormality of calcium, phosphate, parathyroid hormone, vitamin D metabolism, or growth plate mineralization is noted.31,33,61

OI Type VII OI type VII is presumed autosomal recessive and is associated with a gene defect mapped to chromosome 3p22-24.1. This mutation affects the translation of the collagen with mutations in the cartilage-associated protein gene (CRTAP) and the prolyl 3hydroxylase-1 gene (LEPRE1).6,31,77 No type I collagen defect is noted in this form of OI, rather the defect involves how the collagen is translated to create bone. With this gene defect, there is moderate-to-severe bone fragility and shortening of the humerus and femur.40 Those with partial

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expression of CRTAP have moderate bone dysplasia similar to OI type IV; all cases with absence of CRTAP have been lethal.31

OI Type VIII OI type VIII is presumed autosomal recessive and caused by mutations of genes that affect the translation of the collagen with mutations in the CRTAP and the LEPRE1.6,46 No type I collagen defect is noted in this form of OI, rather the defect involves how the collagen is translated to create bone. The absence or severe deficiency of prolyl-3-hydroxylase activity due to the LEPRE1 gene results in lethal to severe osteochondrodystrophy. Osteochondrodystrophy is a disorder of skeletal growth due to a bone and cartilage malformation resulting in severe growth deficiency and bone fragility in those who survive into the teen years. Those affected have flattened, long bones, slender ribs without beading, and small-to-normal head circumference.45,53 OI type VIII is clinically similar to OI types II and III.

OI Type IX OI type IX is clinically similar to Sillence Classification, OI type II, or a severe type III with extreme bone fragility. The gene mutation is on chromosome 15q22.31. This PPIB mutation is responsible for how protein folds when it creates collagen resulting in severe skeletal dysplasia.29,75

OI Type X OI type X is clinically similar to Sillence Classification, OI type II or a severe type III with extreme bone fragility. The gene mutation is on chromosome 11q12.5. This SERPINH1 mutation is responsible for matching up with another protein and “chaperoning” it to encode with another collagen binding protein to create collagen. The defect in the gene results in severe skeletal dysplasia due to lack of collagen type 1 formation.29,75

OI Type XI OI type XI is clinically similar to Sillence Classification, OI type III

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with extreme bone fragility. The gene mutation is on chromosome 17q21. The FKBP10 gene causes delayed collagen secretion, resulting in progressive deformity including joint contractures as well as bone fragility. Histologically, the bone looks similar to type VI with a fish scale–like appearance on the bone lamellae. With the rapid rate of gene mapping and the dedication of the Osteogenesis Imperfecta Foundation to maintaining a patient database, it is expected that new information on classification of OI will continue to grow. Many of the classifications defined beyond Sillence’s initial four types resemble the first four types clinically, but molecularly, the bone fragility is vastly different (Table 11.1).29,31,81 Knowing how the bone disease presents genetically helps in planning treatments because some disorders do not respond to the bisphosphonates. With the expansion of the classification via genetic testing, the need for grouping based on clinical presentation has again become important from a rehabilitation and functional skill level.

Pathophysiology In the first four types of OI a defect in collagen synthesis results from an abnormality in processing procollagen to type I collagen, apparently causing the bones to be brittle. This defect affects the formation of both enchondral and intramembranous bone. Collagen fibers fail to mature beyond the reticular fiber stage. Studies show that osteoblasts have normal or increased activity but fail to produce and organize the collagen.59 Although similar bone fragility is found with OI types VI, VII, and VIII, the defect lies in how the normally developed type I collagen is translated into bone.32 Histological variability is evident among the different types of OI. With OI type I, morphologic findings include an increased amount of glycogen in osteoblasts, mild hypercellularity of bone,1 and no abnormality in collagen fiber diameter.18 Those with OI type II have abnormally thin corneal and skin collagen fibers.11 Bone histology reveals decreased trabeculae and cortical bone thickness.61 In types III and IV, morphologic findings include an increased amount of woven bone, increased cellularity, an increased number of resorption surfaces, and wide osteoid seams.25 Histologically, OI

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type V has lamellar organization in an irregular meshlike pattern.61 OI types VI and XI have a unique fish scale–like appearance of the lamellae. The appearance of a mineralization defect similar to osteomalacia is apparent with osteoid accumulation histologically, although no defects are associated with calcium, phosphate, parathyroid hormone, or vitamin D metabolism.29,61 OI type VII is histologically similar to OI type I, and it is not until analysis of the collagen and the genes is done that it can be differentiated. Both have decreased cortical width and trabecular number with increased bone turnover.76 The lethal forms of OI types VIII, IX, and X are similar to OI type II because bone histology has decreased trabeculae and cortical bone thickness.61 Persons who have inherited OI tend to have the same type of mutation through the family, although clinical manifestations within that type may be variable. First-generation OI tends to be caused by a novel mutation of the gene. This specific gene mutation can then be passed to offspring. Genetic counseling when OI is found gives parents an accurate estimate of the risk of recurrence and an understanding of clinical variability in the family.55,80

Medical Management No cure for OI is known. Historically, no consistently effective medications were available to strengthen skeletal structures and prevent fractures until the bisphosphonate class of drugs was introduced to this population in the late 1990s.3,4,41 Since then the direction of OI management has dramatically changed, especially for individuals with moderate to severe bone fragility.2 Bisphosphonates are having promising effects. Positive results such as reducing fractures and improving bone density have been reported from such pharmacologic agents as bisphosphonates,41 including pamidronate and alendronate.24,48,56 Bisphosphonates work by reducing normal bone turnover. They inhibit osteoclast activity; therefore the osteoblasts are not destroyed as rapidly by the osteoclasts. Despite significant improvements that have resulted from the use of bisphosphonates, great debate continues over long-term use and implications of use around the time of orthopedic surgery.45,50,51,60,78

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Another aspect of care with OI is ensuring adequate vitamin D level. Vitamin D allows the body to absorb calcium. Inadequate vitamin D limits the body’s ability to form the hormone calcitriol, leading to insufficient calcium absorption from the diet; therefore the body must take calcium from the skeleton.42 If vitamin D deficiency is established, vitamin supplementation, as well as calcium supplementation, is recommended. Bone marrow transplant and stem cell therapy have been used sparingly. Transplantation of normal mesenchymal stem cells with the potential to differentiate into mature osteoblasts may result in significant improvement in bone collagen and mineral content. The therapeutic effect is possibly due to the selective growth advantage of normal cells over diseased host cells. Some research is being directed toward transplanting bone marrow cells with osteogenic potential with the collagen gene.13,36,52,58 The use of whole body vibration (WBV) is being researched as a minimally invasive technique to improve bone density and strength in children and adolescents with significant motor impairment. The child is on a vibrating platform on a tilt table. Increased bone density and improved function, based on the Brief Assessment of Motor Function and the Gross Motor Function Measurement, occurred in children who participated in vibration studies. Those who have telescoping rods and/or a history of joint subluxation are not good candidates for this treatment.37,65–67 There is some concern that the vibration may be too stressful across instable joints and may create movement in the hardware of the telescoping rods. Once a fracture occurs, the bone is more susceptible to refracture. The already weakened structure predisposes the child to limb deformities from bowing of the long bones. Immobilization to assist in setting the bone in proper alignment can cause disuse osteoporosis, causing greater risk of future fractures. A vicious circle is created: osteoporosis leads to fracture, and then immobilization for the fracture creates disuse osteoporosis, putting one at risk for further fracture. The goal is to limit immobilization of the extremities as much as possible to reduce osteopenia and risk of additional fractures. Fractures in patients with OI generally heal within the normal healing time, although the resultant callus may be large but of poor

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quality. These fractures must be immobilized for pain relief and to promote healing in the correct alignment. Pseudarthrosis may occur when the fracture is not immobilized. Immobilization may occur in the form of splinting with thermoplastic materials, orthoses, hip spica posterior shells, or casting. With malunion of fractures, angulation and bowing of the long bones occur, frequently accompanied by joint contractures. The physis may be disrupted, resulting in asymmetrical growth and deformity. When angulation occurs, mechanical forces tend to increase the deformity, aggravating the overall problem.1 The cartilaginous ends of the long bones are disproportionately large and have irregular articular surfaces. Fortunately, in nearly all patients with OI the fracture rate diminishes near or after puberty. TABLE. 11.1 Classification of Osteogenesis Imperfecta

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The most successful means of fracture stabilization in long bones in OI is internal fixation with intramedullary rods.38 Consensus indicates that intramedullary rods are advantageous, although significant debate continues over the type of internal fixation to be used in terms of material (steel versus titanium) and fixation (static rod versus telescoping rod). Although use of the intramedullary rod is not without complications, it can be helpful in preventing long bones from bowing after fracture. The rod provides internal support to prevent additional fractures. Indications for stabilization with rods include multiple recurring fractures and increasing long bone deformity that is interfering with orthotic fit and impairing function.38 The age of the patient and the size of the bone determine the type and timing of surgery. Intramedullary rod fixation of the femur is best done after 4 or 5 years of age, when the thigh is not so short as to complicate surgery by compounding the technical difficulty. Surgical insertion of the rod in thin bones is also technically difficult. The type of rod used depends on the type and severity of fracture. When a solid rod is used, bone growth may occur beyond the ends of the rods, necessitating subsequent surgery later for placement of a longer rod. Because children with severe OI are at greater than normal anesthetic risk from potential respiratory compromise, the number of operative procedures is best kept to a minimum. Special instrumentation has been designed that “elongates” with the child’s growth, eliminating the need for multiple surgical revisions as the bone grows (Fig. 11.1).29

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Telescoping rods are most frequently used in the femur but also may be used in the humerus, tibia, and forearm. Problems with intramedullary rods involve the control of rotation and migration when extensible rods are used; thus postoperative casting may be necessary.38 Orthoses may be needed after insertion of the rod for further external support. Early weight bearing with orthotic support is initiated as soon as possible. With internal fixation a risk of osteopenia around the rod is present, especially with telescoping rods.

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FIG. 11.1 Extensible intramedullary fixation rods that

elongate as the bone grows in a child with osteogenesis imperfecta.

Spinal deformities, including scoliosis and kyphosis, occur in 50% of patients with OI as a result of osteoporosis and vertebral compression fractures. Progressive spinal deformities such as scoliosis and pathologic kyphosis are more likely to occur in

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children with types III and IV OI than in those with type I OI.20 Kyphoscoliosis can be disabling and may be present in 20% to 40% of patients.74 Unlike in the typical population, kyphoscoliosis in those with OI can be progressive over a lifetime, which further compounds the patient’s short stature. The most common curve is that of thoracic scoliosis. Scoliotic and kyphotic curves in patients with OI are not usually amenable to conservative bracing. The incidence of a scoliosis developing in adolescents and adults with severe OI is 80% to 90%. Surgical stabilization is often advocated for the management of these deformities because the greater the curve, the greater the difficulty involved in meeting motor milestones.22

Impairment Diagnosis and Problem Identification In the most severe forms of OI, the infant is born with multiple fractures sustained in utero or during the birth process. The prognosis of OI depends on its type. In its most severe forms, including types II, VII, VIII, IX, and X, multiple fractures noted prenatally and developed during delivery are associated with a high mortality rate. Prognostic indicators concerning survival and ambulation include the time of the initial fracture and the radiologic appearance of long bones and ribs at the time of the initial fracture. Spranger and associates71 devised a scoring system for providing an accurate prognosis for newborns with OI. This system coded the degree of skeletal changes based on clinical and radiographic findings in 47 cases. These investigators found that newborns who had marked bowing of their lower extremities but less severe changes in the skull, ribs, vertebrae, and arms and normal sclera survived and had fewer fractures as they grew older. For the moderate and mild types, although the prognosis varies, a gradual tendency toward improvement has been noted when fracture incidence decreases after puberty. If a family is known to be at risk of having a child with OI and the collagen defect or if the genetic mutation has been identified in the parent, human chorionic villous biopsy can be done prenatally at 10 weeks of gestation to determine whether the child has the

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same defect. A prenatal ultrasound examination in the second trimester of pregnancy can be helpful in identifying skeletal dysplasia and associated fractures.39 The infant is usually of normal size at birth, but postnatal growth is impaired. Although no conclusive causative factors for this impaired growth are known, possible factors include the deformities themselves or abnormalities in the epiphyseal growth plates. The radiologic appearance of long bones associated with the most severe cases indicates bones with a thin radiolucent appearance. The malformed ribs affect respiratory function, which may lead to respiratory tract infection and reduced functional potential of the child. Children with moderate OI are often identified after several fractures have resulted from seemingly slight trauma. An example is a fractured humerus caused by the child holding on to a car seat while the caretaker is trying to get the child out of the car. Those children who begin to have fractures of unknown origin at a young age can have collagen and biochemical studies done, usually from a skin biopsy. These tests can also be helpful in ruling out other disorders, such as idiopathic juvenile osteoporosis, leukemia, and congenital hypophosphatasia. Genetic testing can be done to identify if the child has one of the identified forms of OI, although not all forms of bone fragility have been specifically mapped at this time. Infants with large heads and short limbs may be initially misdiagnosed because OI and achondroplasia are often confused. Radiographic reports, however, easily distinguish between the two. Dual-energy x-ray absorptiometry (DEXA) is a helpful evaluation tool in the detection of low bone density. It is most useful in those children with milder forms of OI because it can detect changes more specifically than traditional radiographs.49 DEXA scans are also helpful in tracking drug efficacy in gaining bone density. Collagen and biochemical studies can assist in differentiating a battered infant from an infant with OI. Radiographic studies are helpful because fractures at the epiphysis are rare in OI but common in child abuse in which soft tissue trauma is also evident. Bruising is common to both the infant with OI and the battered infant, but the bruising will disappear when the battered infant is in a safe environment. Three of the most helpful radiographic views in

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diagnosing OI are those of the skull (wormian bones), the lateral view of the spine (biconcave vertebrae or platyspondyly), and the pelvis (the beginnings of protrusio acetabuli).83 In moderate-to-severe forms of OI, early childhood fractures lead to multiple recurring fractures caused by the already weakened structure. The child develops limb deformities from bowing, which leads to impairment of mobility and of other functional skills. In the least severe forms of OI, because the first pathologic fractures occur later in childhood, recurring fractures with associated long bone deformities are less likely, and the overall prognosis is improved. Engelbert and colleagues,23 in a cross-sectional study of 54 children with OI, analyzed range of motion (ROM) and muscle strength for different types of OI. In OI type I, generalized hypermobility of the joints occurred without a decrease in ROM. In OI type III, extremities, especially the lower extremities, were severely malaligned. In OI type IV, upper and lower extremities were equally malaligned. Muscle strength in OI type I was normal except in periarticular muscles at the hip joint. In OI type III, however, muscle strength was severely decreased, especially around the hip joint. In OI type IV, the proximal muscles of both upper and lower extremities were weak. Team members other than physical therapists who have an important role in the management of OI include orthopedists, orthotists, occupational therapists, audiologists, dentists, and geneticists. Little progress has been made in the primary prevention of this disorder, but much improvement in medical management is evident in recent years.

Foreground Information Examination, Evaluation, and Intervention Tables 11.2 to 11.4 Infancy Typical participation restrictions for an infant with OI depend on the severity of the case. In severe cases the most serious impairments are those of rib and skull fractures, which may

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compromise pulmonary status and neural status, respectively. Because of possible cardiopulmonary compromise, time may be spent in the neonatal intensive care unit; this could lead to decreased parental interaction and bonding. If OI is moderate to severe, parents have increased anxiety about holding the infant for fear of fracturing the infant’s bones. This may result in minimal contact and may decrease the mutually nurturing interaction vital to both parent and child. Children with severe OI who have reduced mobility from skeletal deformities may be unable to achieve age-appropriate activities of daily living (ADLs) or to play in the normal peer environment. Infants with OI are at a very delicate stage of life. They have special needs regarding handling, positioning, and playing. During this stage, the role of caregivers is paramount in minimizing fractures, thereby limiting further muscle weakness and joint laxity. This is accomplished primarily through a physical therapy home program and caregiver education involving proper positioning and handling, which begin as soon as the child has been recognized as an infant with fragile bones. At birth the infant may be of normal size, but postnatal growth is almost always stunted. Typical deformities of the infant include a relatively large head with a soft and membranous skull and bowed limbs, which usually are short in the more severe forms of OI. Other features include a broad forehead and faciocranial disproportion, which give the face a triangular shape. Radiographically, fractures present at birth may be at varying stages of healing. The bones of infants with severe OI are short and wide with thin cortices, and the diaphyses are as wide as the metaphyses. Crepitation can be palpated at fracture sites. The physical therapist should be aware of the infant’s medical history of past and present fractures and should know the types of immobilizations employed before beginning the examination. Assessing pain is important when working with this population because it can establish baseline comfort and anticipated changes with intervention. The FLACC (face, legs, activity, cry, and consolability) Scale is an observational scale that is used to quantitatively assess pain behaviors in preverbal patients.44,47 Assessment of the caregiver’s handling and positioning

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techniques during dressing, diapering, and bathing is necessary. Therapists can be helpful in identifying and modifying techniques that put the child at fracture risk. If the baby is hospitalized, it is imperative that all caregivers be educated in proper handling techniques. Therapy assesses active, but not passive, ROM in the young child with OI because passive stretching is contraindicated in most cases. A standard goniometer can be used for measuring active ROM but may need to be cut down to a size suitable for the infant. This active ROM can be translated to functional ROM, useful in visualizing the whole composite of motions needed in functional abilities. For example, functional active ranges include the extent to which the child can bring the hand to the mouth, reach hands to midline, and reach toward the top of the head. If possible, the same therapist measures ROM during reevaluations. Intrarater and interrater reliability of goniometry should be determined for therapists and should be checked annually if more than one therapist examines the child. TABLE. 11.2 International Classification of Functioning, Health, and Disability for Children With Osteogenesis Imperfecta

TABLE. 11.3 Recommended for Children With Osteogenesis Imperfecta

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TABLE. 11.4 Interventions Based on International Classification of Functioning, Health, and Disability for Individuals With Osteogenesis Imperfecta

Muscle strength is assessed through observation of the infant’s movements and palpation of contracting muscles, rather than with the use of formal muscle tests. A gross motor developmental evaluation should also be performed because these children often have delayed development of gross motor skills secondary to fractures and muscular weakness. Delayed gross motor skills are manifested as activity limitations

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involving impaired achievement of motor milestones. Sitting by the age of 10 months is a good predictor of future walking ability.16 Formal tests used include the Peabody Developmental Motor Scales, 2nd edition28; the Pediatric Evaluation of Disability Inventory34; the Bayley Scales of Infant Development II9; and the Brief Assessment of Motor Function, which can be used to obtain a quick description of gross, fine, and oral motor performance.15,54 See Chapter 2 for more information on examination tools. Finally, it is important to assess the appropriateness of equipment used for seating, transporting, and encouraging independent mobility of the infant. Physical therapy includes early parent education on proper handling and positioning techniques. Safe bathing, dressing, and carrying of an infant with OI are critical to reduce the risk of fracture.8 When handling the infant, it is important that forces not be put across the long bones; instead the head and trunk should be supported with the arms and legs gently draped across the supporting arm. Some parents feel most comfortable supporting the infant on a standard-sized bed pillow for carrying at home. It is important to have a repertoire of carrying positions for the infant, so the baby can develop strength by accommodating to postural changes. Holding and carrying positions that safely challenge head control are important in that head control is a hallmark of function over time. Loose clothing and front snaps, side snaps, or Velcro closures can facilitate dressing and undressing. Overdressing should be avoided to reduce excessive sweating. Proper diapering includes a technique of rolling the infant off the diaper and supporting the buttocks with one hand with the infant’s legs supported on the caregiver’s forearm, while the other hand positions the diaper. The infant should never be lifted by the ankles. Bathing is done in a padded, preferably plastic, basin. Infant carriers that are designed to safely support the head, trunk, and extremities are frequently used for household transporting. For the very fragile infant, the carrier can be customized, as with a onepiece molded thoracolumbosacral orthosis, which incorporates the legs so they will not dangle and sustain injury. This carrier minimizes stresses to the fragile bones while it aids in positioning and transporting the infant. Physical therapy can play a role in

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educating families on the proper car seat, even before the child is initially discharged from the hospital. Early on, an infant may need a car bed (Fig. 11.2) if a rear-facing infant seat is too large or if the risk of fracture while getting into and out of the seat is too great during the first few months. Extra padding may have to be added between the child and the transportation device, allowing a snug fit without putting undue stress on the fragile child through the strap systems. Families need to be trained on how to rearrange padding in the seat to accommodate the various devices the child may be placed in for immobilization of fracture sites. Given the low bone density and the high risk for fracture, the child should use a rearfacing car seat for as long as possible to maximize safety in the car.

FIG. 11.2 Example of a young infant in a car bed.

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FIG. 11.3 Infant positioned lying on side using rolls.

Emphasis is on maintaining trunk alignment while allowing for active and spontaneous but safe movement.

Proper positioning is a critical component of the home program and management of the infant with OI. One position that offers good support is sidelying with towel rolls along the spine and extremities, so they are aligned and protected while allowing the child to be active (Fig. 11.3). Prone positioning should start with the baby on the caregiver, where the child is well supported and most comfortable when being challenged. As the child gains skill in prone, the baby can be positioned over a towel roll or with a soft wedge under the chest as an alternative. Prone positioning is helpful for improving head control, strengthening back extensors, and molding the anterior chest wall. When supine, the infant needs support for the arms, and the hips should be in neutral rotation with the knees over a roll (Fig. 11.4). Positions should be changed frequently and should not restrict active spontaneous movement because spontaneous movement enhances muscle strengthening and bone mineralization.8 Positioning is useful not only for the purpose of protecting from fracture but also for minimizing joint malalignment

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and deformities. Fig. 11.5 shows an infant’s legs being poorly positioned in an infant carrier. The same seat is modified with lateral leg pads to keep the infant’s hips and legs in neutral alignment, along with lower leg molded plastic splints (Fig. 11.6). Varying the position of the infant promotes the development of age-appropriate developmental skills.

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FIG. 11.4 Infant positioned supine with hips in neutral

rotation and knees flexed and supported through the trunk.

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FIG. 11.5 Child positioned poorly in an infant seat.

Promotion of sensorimotor developmental skills is an ongoing component in the management of the infant and child. Identification of appropriate and safe toys for a child and of

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comfortable play positions that promote development is often addressed jointly by the occupational therapist and the physical therapist. For example, lying prone on a soft roll or over a parent’s leg allows weight-bearing use of the arms with cocontraction of the shoulder musculature, which promotes active neck and back extensor muscle control (Fig. 11.7). Increasing muscle strength and support around the joint in activities such as this is especially important because the joint ligaments are lax. Prone positioning may be most comfortable over an elevated surface such as a wedge, a sofa cushion, or a roll, but just as important is lower extremity positioning with hips in neutral rotation and maximal hip extension.

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FIG. 11.6 Child with improved positioning in an infant

seat.

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FIG. 11.7 Infant positioned prone over a bolster

encourages weight bearing, extremity and trunk alignment, and strengthening of extensor musculature during developmental play.

Developmental activities such as rolling and supported sitting should be encouraged as tolerated by the child. When rolling is encouraged, the infant’s arm is placed alongside his or her head, and then he or she attempts to roll over. Supported sitting is accomplished with seat inserts or corner chairs. Upright unsupported sitting can begin on the parent’s lap with a pillow. When the child exhibits appropriate head control, short-sit and straddle activities can be done over the caregiver’s leg or a roll but with avoidance of rotation across the lower extremity. These activities promote the development of protective and equilibrium responses and the beginning of protected weight bearing of the lower extremities. Many children with OI spend much time scooting on their buttocks before crawling is accomplished. Many children develop sitting skill and mobility in sitting long before they develop consistent ability to move from horizontal prone or supine to sitting. This is due to short arms in relation to body length and can be adapted for by giving a child a raised surface to push off of, such as a pillow, as the child is learning to move into a sitting position. Proper handling while encouraging developmental skills is of key importance. For instance, a pull-to-sit maneuver is

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contraindicated when a distraction pull on the hands is used. Rather, this maneuver should be modified and facilitated by supporting the child around the shoulders while the child attempts to sit up. In working on trunk control over a ball, the therapist’s hands are positioned on the pelvis and trunk rather than supporting or facilitating movement from the legs. Parents should be cautioned against using devices that support a baby upright in standing such as baby walkers or jumping seats. These devices put unnecessary stress on the legs where the child fits through the sling, and if the baby has difficulty controlling the device, devastating torque to the bone may result. These devices do not foster proper positioning and weight bearing for these fragile children. Such upright activities can give parents a false sense that the infant is protected. Active, spontaneous activity and exercise are encouraged in sidelying and supine positions and in supported sitting, with the child reaching for, swiping at, rolling, and lifting lightweight toys of different textures. Pool exercises may begin as early as 6 months of age with the goals of promoting active exercise and weight bearing.8 Extremity movement may occur unobstructed in the water as the child is supported in a flotation device accompanied by a parent or the therapist. At this stage, goals include teaching safe handling and positioning techniques to caregivers and providing opportunities for development of age-appropriate skills. The intensity of treatment varies with the individual needs of the infant and family, but providing a home program and regular home visits by a physical therapist at least weekly is essential to ensuring that the environment is suitable for sensorimotor and cognitive development. The therapist can act as a resource and support for the caregivers as together they develop strategies to meet the challenges of safe caregiver handling, mobility, and developmental facilitation. Another important role for early intervention therapists in the home is to help families develop a repertoire of positioning and activity options for the child. This is most important when the child recovers from fractures. When fractures do occur, they may require splinting with materials such as thermoplastic materials or fiberglass. Ace wraps have been used to support and protect a limb in mild cases and in

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young infants. Fractures may heal within 2 weeks in the newborn and generally within the same time frame as other fractures in infancy (usually 6 weeks).

Preschool Period Bone fragility, joint laxity, and reduced muscle strength continue to be present in the preschool period but are now accompanied by secondary impairments of disuse atrophy and osteoporosis from fracture immobilization (Fig. 11.8). At this point, if a child has had issues with recurrent fractures, treatment with bisphosphonates has begun to help decrease the fracture cycle. Structural changes and secondary impairments from fractures may limit mobility and subsequently restrict participation in play and socialization for the child with OI. This may affect the child’s adjustment to regular school and may hinder academic progress. The temperament of the child with OI may play a role in his ability to adjust to his activity limitations and participation restrictions. Cintas and colleagues15 demonstrated that the temperament of children with OI was comparable with that of children without disability except for having lower activity scores. Temperament was significantly and positively related to motor performance in terms of persistence, approach, and activity.

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FIG. 11.8 Child with osteogenesis imperfecta showing

joint laxity and bony deformities: femoral anterolateral bowing and tibial anterior bowing.

At this stage, muscles are usually weakened and developmental motor skills are lagging as a result of frequent immobilization and relative disuse. Despite this, cognitive skills should be appropriate for the child’s age. When a fracture is sustained, children with OI typically complain little of pain and usually have minimal soft tissue trauma.84 If the child begins to walk without adequate support, further bending of the long bones occurs as a result of abnormal stress on the weakened structure. Bowing occurs in the anterolateral direction in the femur and anteriorly in the tibia. In those children

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who do not walk, lack of normal weight-bearing stress leads to a honeycomb pattern of osteoporosis in the long bones. Emphasis at this stage is on protected weight bearing and selfmobility for enhanced independence. Although proper positioning, handling, and transferring are still important, the focus shifts to the child’s active participation in his or her care. During this period the child with OI should have adequate upright control to begin bearing weight and, at the very least, should be held in a standing position because early weight bearing appears to have some beneficial effect.30 When radiographs of children with OI from the time of birth and several years later are compared, the changing levels of bone density suggest that progressive osteoporosis has been superimposed on the basic bone defect.10 Upper extremity bones were frequently denser than those of the lower limbs and were less likely to fracture. This finding may be related to the use and stress placed on upper extremity bones during self-care and play activities.

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FIG. 11.9 Straddle roll activity of supported sit-to-stand

for lower extremity strengthening and weight bearing.

For the preschool child an evaluation of modes of mobility and adapted equipment is essential to promote supported sitting functional mobility and independence. Equipment requires constant updating because of changing positional needs related to mobilization-immobilization status. Splinting needs and adaptive ADL equipment are assessed for fit and function to allow optimal levels of independence. Developmental assessment tools that are appropriate include the

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Peabody Developmental Motor Scales II, the Brief Assessment of Motor Function, and the Pediatric Evaluation of Disability Inventory to assess gross motor function and activity limitations in children with OI. Pain should continue to be assessed in the preschool-age child. Appropriate pain assessments include the FLACC Behavioral Scale and the self-report Numeric or WongBaker Faces Scale.44,82 Active exercise continues to be emphasized to increase muscle strength of weakened muscles, most typically, hip extensor and abductor muscles. Active exercise can be achieved primarily through developmental play. One developmental activity to increase weight bearing and maintain or increase strength in the quadriceps and hip extensor musculature involves having the child straddle a roll and come to stand, with the therapist supporting the child’s pelvis (Fig. 11.9). The therapist begins with the child sitting on a high roll that requires a small excursion of movement to go from sitting to standing and then gradually changes to using a lower roll. An active-resistive program graded for the patient’s tolerance should be cautiously established. Use of light weights may be incrementally increased, but they should be attached close to large joints so as to avoid a long lever arm, which increases the potential for fracture. Early gym-related activities that can be introduced at this age may include scooter board activities, riding tricycles, and playground games such as Simon Says, Red Light Green Light, and Follow the Leader. Activities that encourage overhead reaching are helpful in maximizing trunk extension. These activities can include modified basketball activities when the ball is light and the child uses low-speed passing. Racket sports using a tethered tennis ball help to build upper body strength. A responsible adult to ensure safety should closely monitor all activities. If the child is attending preschool, all members of the team should have a basic emergency plan if fractures occur at school. This plan would include but is not limited to notification of family and splinting of involved extremities while awaiting supportive medical intervention. An aquatic exercise program is excellent for the child with OI. It can be started at an early age and continue for a lifetime. Aquatic therapy benefits include the opportunity to socialize with peers in a safe environment, a safe method of strengthening muscles through

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resistance and assistance of the water, and the opportunity to improve cardiovascular fitness and bear weight in a protected environment. The therapist can finely grade the progression of exercises in the pool by first using the buoyancy effect of the water to assist weak movements, then supporting the movements, and finally, using water to resist active movements. Exercises can be modified with floats by changing the length of the lever arm of the moving body part through the use of turbulence and by altering the speed and direction of the movement.19 Pool exercises can enhance deep breathing to facilitate chest expansion and enhance overall respiratory function, which are especially important because chest deformities that compromise breathing capacity are common. Certain precautions should be taken when pool therapy is considered for the child with OI. The heat of the water creates a rise in body temperature and increases metabolism, which is frequently already elevated in these children. It is suggested, therefore, that time in the water, water temperature, and activity level be closely monitored for each child. Initially, pool sessions are generally limited to 20 to 30 minutes.14 Pool exercise therapy may interrupt the cycle of further disuse and secondary complications from immobilization. Not only is aquatic therapy an ideal therapeutic modality for the child with OI, it also can be a therapeutic, lifelong avocational activity that can ameliorate the effects of the disabling process. One key goal and big challenge for the preschool child who has frequent fractures is safe, independent mobility. The aim is to prevent an activity limitation of reduced mobility resulting from the initial impairment. Research has linked limited mobility opportunities in the first few years with later life problem-solving skill difficulties.72 Opportunities for multiple safe modes of mobility should be explored to expand the child’s repertoire of environmental experiences. A scooter for sitting propelled with legs or hands may be useful (Fig. 11.10). Families should be encouraged to investigate ride-on toys that can be purchased at a toy store. It is often a challenge to get a device that accommodates the child’s shortened femurs and shortened arms yet gives enough weightbearing surface to enhance trunk control. Sometimes handlebars need to be adapted to allow the child to steer effectively. A ride-on

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toy may give the child safe mobility without the rotational components of sit-scooting. The degree of ambulation attainable varies for preschool children with OI. Those children with limited ambulatory skills may need formal gait training as well as the instruction of family members. Interest in standing often occurs in the child’s second year of life. Factors affecting the ability to stand and ambulate include the degree of bowing in the extremities and the muscle strength of the limbs. Ambulation is often introduced in the pool, for protected weight bearing. Because the buoyancy of water provides support for the body, weight bearing on weakened extremities and unstable joints can be gradually introduced without fear of causing trauma.

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FIG. 11.10 Scooter used for mobility that can be

propelled by a child’s legs or arms.

Weight relief depends on the proportion of the body that is below the water level. For maximum weight relief for ambulation, the child begins standing in the pool where the water level is at the child’s neck. Over time, the child gradually progresses to bearing

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more weight in shallow water. If the child with OI is recovering from a fracture, it is recommended that thermoplastic splints be used to further protect the extremity while in the pool during early weight bearing. General guidelines for walking reeducation in water according to Duffield19 suggest that a patient start in parallel bars or a walking frame, with the therapist initially supporting the pelvis from the front. The patient practices weight shifts from side to side, forward, and backward and progresses to walking forward. The therapist cues the patient to lean slightly forward to counteract the upthrust of buoyancy, which tends to cause the child to overbalance backward. In this manner, protected walking for a child with OI can start much earlier than on a solid surface. Unsupported standing on solid ground is not recommended because it leads to rapid bowing of the long bones. When severe bowing of the extremities occurs, the child usually undergoes orthopedic surgery in the form of osteotomies. Age-appropriate lower extremity weight bearing is encouraged, although the child with moderate to severe OI needs external devices such as splints or braces to protect fragile long bones. In moderate-to-severe OI, braces and splints are usually required to begin standing activities on solid surfaces. Use of orthotics provides the protected weight bearing needed to reduce the impact of stress on osteoporotic bony deformities. Braces or splints may be used first in conjunction with a standing frame if the child has significant lower extremity bowing and does not have standing skill. The child who does not naturally embark on a standing program can use a standing device for support. An air splint can be used to prevent fractures and to temporarily manage fractures. Use of such a device may be a nice stepping stone between using a stander for weight bearing and standing freely without support.63 Many children begin early ambulation with sit-to-stand activities and cruising along furniture. Air splints can be helpful to institute graded weight bearing and gait training in a child with OI. Drawbacks of air splints are that they may be bulky and hot, so the child may not always tolerate them well. Once a child graduates from a stander, ambulation may be protected through the use of parallel bars or a walker. A walker that

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supports the majority of body weight through the trunk and pelvis is often used to assist in weight bearing during initial overland ambulation. This walker supports weight by means of a trunk support cuff and a padded pommel that is positioned between the child’s legs. Rear-wheeled and four-point walkers followed by canes or crutches (depending on the type and severity of OI) also may be used. Forearm attachments to walkers or crutches afford a degree of weight bearing distributed throughout the forearm to reduce stress on the arm and wrist, as well as to relieve some weight bearing on the lower extremities. Older preschoolers who use a walker may benefit from a walker with a seat, so they can easily rest between walking activities and can fully participate in preschool-related play. Most children ambulate without braces when the fracture rate decreases. Although bracing of the lower extremity is not as prevalent as it had been before the use of bisphosphonates, many benefit from orthotics in the shoe to support the longitudinal arch that often collapses as the result of ligamentous laxity. Families often will invest in a lightweight wheelchair the child can self-propel during times of fracture recovery. For those who have significant bone fragility, a motorized wheelchair is a consideration at this age. With training, the child could safely handle a mobility device allowing age-appropriate peer-related play. These alternative mobility modes do not preclude ambulation but are useful additional mobility options. Regardless of the mode of mobility used, it is imperative to provide the child with a degree of functional independence in the home and in the preschool environment that will promote participation in social activities. Physical therapists are often consulted on seating issues with children who have OI. Given that most states mandate child safety seats in cars for children younger than 8 years of age, it is important to assist families in proper seating choices once the child has outgrown the infant car seat. Children with the most severe forms of OI are safest in rear-facing seating devices for as long as possible. A five-point harness rather than a seat belt helps to distribute pressure from accidents more evenly. Booster seats should be used until the child meets the size restrictions for the seating; the age restrictions of the law should not be the only focus in these

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decisions.

School Age and Adolescence Due to reduced mobility and limited independence in ADLs, school-age children and adolescents often have limited ability to participate in peer-related activities (Table 11.2). Social skill development also may be hampered if the school-age child has been overprotected by caregivers because of overwhelming fear and anxiety regarding fractures. This may have an impact on the school-age child’s scholastic endeavors and future vocational achievements. Studies have shown that children with OI tend to have similar temperament to typically developing peers.73 The child who has negative behavior, including negative moods and high intensity of expression, influences the parent’s perception of the difficulty related to dealing with the care of and individual with bone fragility. The severity of the child’s disease does not have as big an impact on parental coping as does the child’s temperament.73 Parents and educators should encourage a positive attitude and excellence in school performance to prepare the child for a productive future. At this age the spine may exhibit varying degrees of deformity. Usually, scoliosis, kyphosis, or both are present, resulting from compression fractures of the vertebrae, osteoporosis, and ligamentous laxity. The child with moderate-to-severe OI typically has marked bowing of the long bones from multiple fractures and growth arrest at the epiphyseal plates. In the femur the neck-shaft angle may be decreased with a coxa vara deformity and acetabular protrusion. The tibia is anteriorly angulated, which, in combination with the angulation of the femur, results in an apparent knee flexion contracture. The patellofemoral joint frequently dislocates, predisposing the patient to falls and fractures. Pes valgus frequently occurs at the ankle. In the upper extremities the humerus is angulated laterally or anterolaterally and the forearms are limited in supination and pronation. The elbows often exhibit cubitus varus deformities, and elbow flexion contractures may be present. The frequency of fracture tends to decrease markedly after puberty. Possible causes include hormonal changes, increased awareness of how to prevent fractures, improvement in

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coordination, and increasing bone strength.31 Paradoxically, the adolescent who senses his or her increased stability and emerging independence may maximize involvement in activities, which increases the risk of more severe types of fractures. In an effort not to discourage these activities and independence, ongoing use of safe methods of mobility, caution, and responsible behavior should be stressed in patient instruction throughout childhood. Physical therapy management at this stage involves other team members, including professionals in orthopedics, orthotics, occupational therapy, and rehabilitation engineering, to maximize the child’s independence in ADLs, mobility, endurance, problem solving, and adjustment to the school environment. Children and adolescents should be encouraged to be active family members. They should have a share in home-related chores and responsibilities within their functional capacity. This is important because it helps the child learn a level of independence for a lifetime, allows the child to feel valued, and may lessen sibling rivalry. In this period, physical therapy may be helpful in returning the child to premorbid mobility status after a series of immobilizations from prepubertal fractures. Weight management and physical activity are important at this age. Management of scoliosis and kyphosis is usually addressed by a spinal fusion, but the long-term results in maintaining alignment are questionable. Back braces have been shown to be ineffective in controlling scoliosis and kyphosis.7 Along with occupational therapy, physical therapy can help to maximize the child’s independence by identifying safe, energyefficient positions in which the child can work. Adaptive equipment is imperative for those with severe involvement. Occupational therapists, physical therapists, and rehabilitation engineers work together to adapt wheelchairs and seating and mobility devices to accommodate skeletal deformity, scoliosis, and kyphosis. A variety of lightweight and easily maneuverable manual wheelchairs can be adapted with seating inserts for trunk control and proper positioning. Vinyl upholstery is usually unsatisfactory for the child with OI because of the propensity for excessive perspiration. Proper wheelchair positioning is critical for prevention of further disabling

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deformity and for protection of exposed extremities from trauma. Those who do rely on power mobility may benefit from a seat elevator and a motorized transfer arm to allow independence in transfers and ability to access all work surfaces in the home and at school (Fig. 11.11).

FIG. 11.11 Adolescent using power mobility with a seat

elevator and a motorized transfer arm.

The adolescent continues physical therapy to work on ambulation, endurance, and strength. Household ambulation is usually achieved with assistive devices if adequate upper extremity strength is present. Walkers with progression to canes or crutches may be used.

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Many children with OI who have primarily used the wheelchair for mobility are now able to ambulate about the house without any special change in their program. It is important to emphasize the maintenance of adequate skeletal alignment and maximal muscular strength throughout childhood to prepare for this improved function as an adolescent and adult. Community ambulation, however, is not practical given the patient’s short stature, the energy expenditure required, and the reduced muscle power. Most school-age and older children with OI use wheelchairs for community ambulation.10 Independence in mobility is paramount because it has been shown to correlate with the degree of adaptation to the community environment. Bachman5 found that independence in travel away from home was the most important factor in an adolescent’s ability to participate successfully outside the school environment. Strengthening and endurance programs can be most successful when the child participates in developing a program that suits his or her interests and schedule. Of key importance at this age for those who are not ambulatory population is core strength and the ability to sit-scoot. Adequate trunk strength will positively affect the child’s ability to assist with transfer and self-care skills throughout adulthood. Programs can consist of progressive resistive exercises using incremental weights, aquatic activity, adaptive sport activities, or computer-assisted physical activity. Enjoyable avocational activities that incorporate functional strengthening and mobility also must be stressed at this age. Although contact sports, such as football, soccer, and baseball, must be avoided, customized athletic and fitness programs are vital for youngsters with OI. These adaptive physical education activities can assist in improving physical health, finding a competitive outlet, helping to discover one’s potential, and providing an opportunity to make friends.17 Sports and recreation activities should be encouraged as an adjunct to therapy. These activities will assist children to develop lifelong fitness interests. Adaptive sports that are available to the child who is interested include swimming, challenger baseball, cycling, boating, noncontact martial arts, adaptive dance, billiards, golf, wheelchair sports, racket sports, and even sled hockey. It is important to keep an open mind when

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helping a child develop fitness interests. Weigh the benefits against the risks when helping a child make choices. The physical therapist’s role is to set appropriate parameters for participation, to provide precautions, and to upgrade the level of activity progressively. Volunteer jobs and social opportunities, such as Boy Scouts and Girl Scouts, encourage emotional growth and develop leadership skills. Experience in a volunteer capacity can be helpful to the adolescent when applying for employment in the future.27

Transition to Adulthood In the transition to adulthood, emphasis needs to be placed on the skills necessary for independent living. Identifying personal goals for education and employment is important for the physical therapist to help to establish a plan of care. Once personal goals are established, the therapist can assist the young adult in problemsolving aspects of the activity to allow participation. The mildly involved person with OI tends not to seek assistance; more involved individuals may need support to address specific goals such as transfers for toileting in public or gaining the skills necessary to run a household without outside assistance. Strategies need to be established to maximize independence with and without the presence of fractures. In the transition to adulthood, appropriate career placement is important, while taking into consideration the patient’s intellectual capacity and physical constraints. Because most patients with OI become productive members of society, optimal academic, social, and physical development will enhance their opportunities to succeed in a competitive job market.10 In addition to functional independence, those who have OI need to participate in behaviors to enhance lifelong health. These involve regular exercise, weight management, a healthy calcium-rich diet, limited caffeine consumption, and avoidance of smoking tobacco. Therapists need to review how each aspect influences overall health and, more important, the management of osteoporosis. Some encounter problems with deafness in adult life. Scoliotic curves may be severe and may continue to progress. The incidence of scoliosis approaches 80% to 90% in teenagers and adults.1 Patients who have OI are especially susceptible to postmenopausal osteoporosis or the osteoporosis of immobilization,68 when more

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fractures may occur.55 Adults with OI also report problems with arthritic changes and back pain. By the time these children reach adulthood, most moderately involved persons use either manual or power wheelchairs for community mobility. Ambulation consists of household walking with an assistive device.

Case Scenario on Expert Consult The case scenario related to this chapter illustrates issues related to the many episodes of care children with OI will have secondary to frequent fractures. “Jenna’s” needs for mobility are the focus of this case, in which she is followed from early childhood to middle school.

References 1. Albright J.A. Management overview of osteogenesis imperfecta. Clin Orthop. 1981;159:80–87. 2. Alharbi M, Pinto G, Finidori G, et al. Pamidronate treatment of children with moderate-to-severe osteogenesis imperfecta: a note of caution. Horm Res. 2009;71:38–44. 3. Astrom E, Soderhall S. Beneficial effect of bisphosphonate during five years of treatment of severe osteogenesis imperfecta. Acta Paediatr. 1998;87:64–68. 4. Astrom E, Soderhall S. Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta. Arch Dis Child. 2002;86:356–364. 5. Bachman W.H. Variables affecting post school economic adaptation of orthopedically handicapped and other healthimpaired students. Rehabil Lit. 1972;3:98. 6. Basel D, Steiner R.D. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 2009;11:375–385. 7. Benson D.R, Newman D.C. The spine and surgical treatment in osteogenesis imperfecta. Clin Orthop. 1981;159:147–153.

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Binder H, Hawkes L, Graybill G, Gerber N.L, Weintrob J.C. Osteogenes imperfecta: rehabilitation approach with infants and young children. Arch Phys Med Rehabil. 1984;65:537–541. 9. Black M.M, Matula K. Essentials of Bayley Scales of Infant Development II assessment. New York: John Wiley Sons; 1999. 10. Bleck E.E. Nonoperative treatment of osteogenesis imperfecta: orthotic and mobility management. Clin Orthop. 1981;159:111–122. 11. Bluemcke S, Niedorf H.R, Thiel H.J, Langness U. Histochemical and fine structural studies on the cornea in osteogenesis imperfecta. Virchows Arch B Cell Pathol. 1972;11:124–132. 12. Byers P.H. Osteogenesis imperfecta: an update: growth, genetics and hormones. . vol. 4. New York: McGrawHill; 1988 Part 2. 13. Chamberlain J.R, Schwarze U, Wang P.R, et al. Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science. 2004;303:1198–1201. 14. Cintas H.L. Aquatics. In: Cintas H.L, Gerber L.H, eds. Children with osteogenesis imperfecta: strategies to enhance performance. Gaithersburg, MD: Osteogenesis Imperfecta Foundation; 2005:101–121. 15. Cintas H.L, Siegel K.L, Furst G.P, Gerber L.H. Brief assessment of motor function: reliability and concurrent validity of the Gross Motor Scale. Am J Phys Med Rehabil. 2003;82:33–41. 16. Daly K, Wisbeach A, Sampera Jr. I, Fixsen J.A. The prognosis for walking in osteogenesis imperfecta. J Bone Joint Surg Br. 1996;78:477–480. 17. Donohoe M. Sports and recreation. Chapter 6. In: Cintas H.L, Gerber L.H, eds. Children with osteogenesis imperfecta: strategies to enhance performance. Gaithersburg, MD: Osteogenesis Imperfecta Foundation; 2005:122–160. 18. Doty S.B, Matthews R.S. Electron microscopic and histochemical investigation of osteogenesis imperfecta tarda. Clin Orthop. 1971;80:191–201.

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19. Duffield M.H. Physiological and therapeutic effects of exercise in warm water. In: Skinner A.T, Thomson A.M, eds. Duffield’s exercise in water. ed 3. London: Bailliere Tindall; 1983. 20. Engelbert R.H.H, Gerver W.J.M, Breslau-Siderius L.J, van der Graaf Y, Pruijs H.E.H, van Doorne J.M. Spinal complication in osteogenesis imperfecta: 47 patients 1-16 years of age. Acta Orthop Scand. 1998;69:283–286. 21. Reference deleted in Proofs. 22. Engelbert R.H, Uiterwaal C.S, van der Hulst A, Witjes B, Helders P.J, Pruijs H.E. Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones. Eur Spine J. 2003;12:130–134. 23. Engelbert R.H, van der Graaf Y, van Empelen M.A, Beemer A, Helders P.J.M. Osteogenesis imperfecta in childhood: impairment and disability. Pediatrics. 1997;99:E3. 24. Falk M.J, Heeger S, Lynch K.A, DeCaro K.R, Bohach D, Gibson K.S, Wa biophosphate therapy in children with osteogenesis imperfecta. Pediatrics. 2003;111:573–578. 25. Falvo K.A, Bullough P.G. Osteogenesis imperfecta: a histometric analysis. J Bone Joint Surg Am. 1973;55:275–286. 26. Falvo K.A, Root L, Bullough P.G. Osteogenesis imperfecta: a clinical evaluation and management. J Bone Joint Surg Am. 1974;56:783–793. 27. Fehribach G. Independent living. Pittsburgh, PA: Presented before the Osteogenesis Imperfecta Foundation National Convention, August 9, 1990; 1990. 28. Folio M, Fewell R. Peabody Developmental Motor Scales and activity cards. Allen, TX: DLM Teaching Resources; 1983. 29. Forlino A, Cabral W.A, Barnes A.M, Marnini J.C. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2012;7:540–557. 30. Gerber L.H, Binder H, Weintrob J, Grenge D.K, Shapiro J, Fromherz W, al. Rehabilitation of children and infants with osteogenesis

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imperfecta: a program for ambulation. Clin Orthop Rel Res. 1990;251:254–262. 31. Glorieux F. Guide to osteogenesis imperfecta for pediatricians and family practice physicians. Bethesda, MD: National Institutes of Health Osteoporosis and Related Bone Diseases National Resource Center; 2007. 32. Glorieux F.H, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15:1650–1658. 33. Glorieux F.H, Ward L.M, Rauch F, Lalic L, Roughley P.J, Travers R. Ost imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002;17:30–38. 34. Haley S.M, Faas R.M, Coster W.J, Webster H, Gans B.M. Pediatric Evaluation of Disability Inventory. Boston: New England Medical Center; 1989. 35. Harrington J, Sochett E, Howard A. Update on the evaluation and treatment of osteogenesis imperfecta. Pediatr Clin North Am. 2014;61:1243–1257. 36. Horwitz E.M, Prockop D.J, Gordon P.L, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood. 2001;97:1227–1231. 37. Hoyer-Kuhn H, Semler O, Stark C, et al. A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta. J Musculoskelet Neuronal Interact. 2014;14(4):445–453. 38. Jerosch J, Mazzotti I, Tomasvic M. Complications after treatment of patients with osteogenesis imperfecta with a Bailey-Dubow rod. Arch Orthop Trauma Surg. 1998;117:240– 245. 39. Krakow D, Alanay Y, Rimoin L.P, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet. 2008;146:1917–1924. 40. Labuda M, Morissette J, Ward L.M, et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome

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3. Bone. 2002;31:19–25. 41. Landsmeer-Beker E.A. Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate). Eur J Pediatr. 1997;156:792–794. 42. Lips P, Bouillon R, van Schoor N.M, Vanderschueren D, Verschueren S, Kuchuk N, et al. Reducing fracture risk with calcium and vitamin D. Clin Endocrinol. 2010;73:277–285. 43. Looser E. Zur Kenntnis der Osteogenesis imperfecta congenita und tardannte idiopathische Osteopsathyrosis. Mitteilungen Grenzgebieten Medizin Chirurgie. 1906;15:161 (Translation: Toward an understanding of osteogenesis imperfecta and tarda [also known as idiopathic osteopsathyrosis]. Transactions of Frontiers of Medicine and Surgery). 44. Manworren R.C, Hynan L.S. Clinical validation of FLACC: preverbal patient pain scale. Pediatr Nurs. 2003;29:140–146. 45. Marini J.C. Should children with osteogenesis imperfecta be treated with bisphosphonates? Nature Clin Pract Endocrinol Metabol. 2006;2:14–15. 46. Marini J.C, Cabral W.A, Barnes A.M. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissues Res. 2010;339:59–70. 47. Merkel S, Voepel-Lewis T, Malviya S. Pain assessment in infants and young children: FLACC scale. Am J Nurs. 2002;102:55–58. 48. Montpetit K, Plotkin H, Pauch F, Bilodeau N, Cloutier S, Rabzel M, Glo increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta. Pediatrics. 2003;111:601–603. 49. Moore M.S, Minch C.M, Kruse R.W, Harke H.T, Jacobson L, Taylor A. T role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 1998;27:797–801. 50. Morris C.D, Einhorn T.A. Bisphosphonates in orthopaedic

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surgery. J Bone Joint Surg Am. 2005;87:1609–1618. 51.

Munns C.F, Rauch F, Zeitlin L, Fassier F, Glorieux F.H. Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res. 2004;19:1779–1786. 52. Niyibizi C, Wang S, Mi Z, Robbins P.D. Gene therapy approaches for osteogenesis imperfecta. Gene Ther. 2004;11:408–416. 53. Obafemi A.A, Bulas D.I, Troendle J, Marini J.C. Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet A. 2008;146A:2725–2732. 54. Parks R, Cintas H.L, Chaffin M.C, Gerber L. Brief assessment of motor function: content validity and reliability of the fine motor scale. Pediatr Phys Ther. 2007;19:315–325. 55. Paterson C.R. Clinical variability and life expectancy in osteogenesis imperfecta. Clin Rheumatol. 1995;14:228. 56. Poyrazoglu S, Gunoz H, Darendeliler F, et al. Successful results of pamidronate treatment in children with osteogenesis imperfecta with emphasis on the interpretation of bone mineral density for local standards. J Pediatr Orthop. 2008;28:483–487. 57. Primorac D, Rowe D.W, Mottes M, Barisic I, Anticevic D, Mirandola S, e al. Osteogenesis imperfecta at the beginning of bone and joint decade. Croat Med J. 2001;4:393–415. 58. Prockop D.J. Targeting gene therapy for osteogenesis imperfecta. N Engl J Med. 2004;350:2302–2304. 59. Ramser J.R, Frost H.M. The study of a rib biopsy from a patient with osteogenesis imperfecta: a method using in vivo tetracycline labeling. Acta Orthop Scand. 1966;37:229– 240. 60. Rauch F, Glorieux F.H. Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long? Ann Med. 2005;37:295–302. 61. Roughley P.J, Rauch F, Glorieux F.H. Osteogenesis imperfecta—clinical and molecular diversity. Eur Cell

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Mater. 2003;5:41–47. 62. Schwartz S. Dental care for children with osteogenesis imperfecta. In: Chiasson R, Munns C, Zeitlin L, eds. Interdisciplinary treatment approach for children with osteogenesis imperfecta. Canada: Shriners Hospital for Children; 2004:137–150. 63. Scott E.F. The use of air splints for mobility training in osteogenesis imperfecta. Clin Suggest. 1990;2:52–53. 64. Seedorf K.S. Osteogenesis imperfecta: a study of clinical features and heredity based on 55 Danish families comprising 180 affected members. Opera ex Domo Biologiae Hereditariae Humanae Universitatis Hafniensis. 1949;20:1–229. 65. Semler O, Fricke O, Vezyroglou K, Stark C, Schoenau E. Improvement of individual mobility in patients with osteogenesis imperfecta by whole body vibration powered by GalileoSystem. Bone. 2007;40:S77. 66. Semler O, Fricke O, Vezyroglou K, Stark C, Schoenau E. Preliminary results on the mobility after whole body vibration in immobilized children and adolescents. J Musculoskelet Neuronal Interact. 2007;7:77–81. 67. Semler O, Fricke O, Vezyroglou K, Stark C, Schoenau E. Results of a prospective pilot trial on mobility after whole body vibration in immobilized children and adolescents with osteogenesis imperfecta. Clin Rehabil. 2008;22:387–394. 68. Sillence D.O. Osteogenesis imperfecta: expanding panorama of variants. Clin Orthop Rel Res. 1981;159:11–25. 69. Sillence D.O, Danks D.M. The differentiation of genetically distinct varieties of osteogenesis imperfecta in the newborn period. Clin Res. 1978;26:178A. 70. Sillence D.O, Senn A, Danks D.M. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–116. 71. Spranger J, Cremin B, Beighton P. Osteogenesis imperfecta congenita. Pediatr Radiol. 1982;12:21–27. 72. Stanton D, Wilson P.N, Foreman N. Effects of early mobility on shortcut performance in a simulated maze. Behav Brain

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Res. 2002;136:61–66. 73. Suskauer S.J, Cintas H.L, Marini J.C, Gerber L.H. Temperament and physical performance in children with osteogenesis imperfecta. Pediatrics. 2003;111:E153–E161. 74. Tachdjian M.O. In: Pediatric orthopedics. vol. 2. Philadelphia: WB Saunders; 2002. 75. Valadares E.R, Carneiro T.B, Santos P.M, Oliveira A.C, Zabel B. What is new in genetics and osteogenesis imperfecta classification? J Pediatr (Rio J). 2014;90:536–541. 76. Van Brussel M, Takken T, Uiterwaal C, Pruijs H.J, Van der Net J, Helders P.J.M. Physical training in children with osteogenesis imperfecta. J Pediatr. 2008;152:111–116. 77. Ward L.M, Rauch F, Travers R, et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2003;31:12–18. 78. Weber M, Roschger P, Fratzl-Zelman N, et al. Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta. Bone. 2006;39:616– 622. 79. Wekre L.L.1, Froslie K.F, Haugen L, Falch J.A. A populationbased study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil. 2010;32:579–587. 80. Widmann R.F, Laplaza F.J, Bitan F.D, Brooks C.E, Root L. Quality of life in osteogenesis imperfecta. Int Orthop. 2002;26:3–6. 81. Womack J. Osteogenesis imperfecta types I-XI: implications for the neonatal nurse. Adv Neonat Care. 2014;14:309–315. 82. Wong D, Baker C. Pain in children: comparison of assessment scales. Pediatr Nurs. 1988;14:9–17. 83. Wynne-Davies R, Gormley J. Clinical and genetic patterns in osteogenesis imperfecta. Clin Orthop Rel Res. 1981;159:26–35. 84. Zack P, Franck L, Devile C, Clark C. Fracture and nonfracture pain in children with osteogenesis imperfecta. Acta Paediatr. 2005;94:1238–1242.

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Suggested Readings Background Marini J.C. Should children with osteogenesis imperfecta be treated with bisphosphonates? Nature Clin Prac Endocrinol Metabol. 2006;2:14–15. Valadares E.R, Carneiro T.B, Santos P.M, Oliveira A.C, Zabel B. What is new in genetics and osteogenesis imperfecta classification? J Pediatr (Rio J). 2014;90:536–541.

Foreground Brizola E, Staub A.L, Felix T.M. Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta. Pediatr Phys Ther. 2014;26(2):245–252. Cintas H.L, Segel K.L, Furst G.P, Gerber L.H. Brief assessment of motor function: reliability and concurrent validity of the Gross Motor Scale. Am J Phys Med Rehabil. 2003;82:33–41. Engelbert R.H, Gulmans V.A, Uiterwaal C.S, Helders P.J. Osteogenesis imperfecta in childhood: perceived competence in relation to impairment and disability. Arch Phys Med Rehabil. 2001;82:943–948. Hill C.L, Baird W.O, Walters S.J. Quality of life in children and adolescents with osteogenesis imperfecta: a qualitative interview based study. Health Qual Life Outcomes 12. 2014;54. http://doi.org/10.1186/1477-7525-12-54. Semler O, Fricke O, Vezyroglou K, Stark C, Schoenau E. Results of a prospective pilot trial on mobility after whole body vibration in immobilized children and adolescents with osteogenesis imperfecta. Clin Rehabil. 2008;22:387–394. Suskauer S.J, Cintas H.L, Marini J.C, Gerber L.H. Temperament and physical performance in children with osteogenesis imperfecta. Pediatrics. 2003;111:E153–E161. Van Brussel M, Takken T, Uiterwaal C, Pruijs H.J, Van der Net J, Helders P.J.M. Physical training in children with osteogenesis imperfecta. J Pediatr. 2008;152:111–116. Wekre L.L.1, Froslie K.F, Haugen L, Falch J.A. A population-based study of demographical variables and ability to perform activities of daily living in adults with osteogenesis imperfecta. Disabil Rehabil. 2010;32:579–587.

Resources Osteogenesis Imperfecta Foundation

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804 W Diamond Avenue, Suite 210 Gaithersburg, MD 20878 www.oif.org

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Muscular Dystrophies and Spinal Muscular Atrophy Allan M. Glanzman, Amanda Kusler, and Wayne A. Stuberg

Neuromuscular diseases include disorders of the motor neuron (anterior horn cells and peripheral nerves), neuromuscular junction, and muscle. Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two prevalent, progressive neuromuscular diseases that require physical therapy. Progressive weakness, muscle atrophy, contracture, deformity, and progressive disability characterize both diseases. No cure is available for either disease. Incurable, however, is not synonymous with untreatable, and the physical therapist can be influential in prevention of complications, preservation of function, and maximizing quality of life. The objective of this chapter is to present an overview of childhood neuromuscular disorders and to discuss the role of the physical therapist as a member of the management team. The clinical presentation of these diseases is reviewed and examination procedures are presented to assist the clinician in identifying

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impairments and limitations in activity and participation associated with diseases of the muscle and nerve. Guidelines for physical therapy management are outlined and reflect our clinical experience and review of related literature. Background and foreground information are presented throughout, in each of the following condition-specific sections.

Role of the Physical Therapist As a member of the management team in the educational or medical setting, the physical therapist assists in identification and amelioration of impairments, as well as in promotion of activity and participation for persons with neuromuscular disorders. The team often includes physician(s) (neurologist, orthopedist, or physiatrist), physical therapist, occupational therapist, nutritionist, speech therapist, educator, social worker, genetic counselor, psychologist, and orthotist. Because therapists typically maintain a higher frequency of contact with families, referral to and ongoing communication with other team members becomes an important part of maintaining continuity of care. The team approach should be family centered with a focus on collaborative goal setting among affected individuals, family members, and professionals to ensure optimal care.277 When care is provided using a family-centered philosophy, the pivotal role of the family is recognized and respected in the lives of people with special health care needs. Prevention is an important role of the physical therapist. Stress on the child/individual and family can be reduced and coping facilitated through accurate prognostic information and recognition of signs that portend changing status and a resultant increase in disability. Examples of status change are seen in the period before the loss of walking, before the need for architectural modifications to accommodate adaptive equipment for mobility, during transition from the educational to the vocational/avocational environment, and during the terminal stages of the disease, when the decision to use mechanical ventilation becomes a major issue. Providing information to the patient, family, and team regarding physical limitations and expected participation restrictions is an

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important role of the physical therapist. Many resource materials are available online through the national Muscular Dystrophy Association (MDA) or through Parent Project Muscular Dystrophy for DMD and Cure SMA.

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Physical Therapy Examination and Evaluation The progression of the more common neuromuscular disorders is relatively well known, but many of those that are less common can be quite variable and the natural history is often less known. A full understanding of the expected clinical progression is critical to providing quality patient care and being able to anticipate and address the evolution of impairments and their expected functional impacts. The clinician must carefully monitor the child for changes that require intervention and modifications in the context of the expected natural history. As stated by Thomas McCrae (1870–1935), “More is missed by not looking than by not knowing,”241 but clearly both are important. Ongoing dialogue with families is invaluable in identifying family-centered goals and the need for program modification. The physical therapy examination is the initial step in management of the child with neuromuscular disorders and should include those components identified in the Guide to Physical Therapist Practice.4 The following domains should be carefully considered and used as appropriate. Please see Chapter 2 for more details on selected measures in these domains. 1. History with family concerns 2. Aerobic capacity and endurance 3. Assistive and adaptive devices 4. Community and work (job/school/play) integration 5. Environmental, home, and job/school/play barriers 6. Gait, locomotion, and balance 7. Integumentary status (when using orthoses, adaptive equipment, or wheelchair) 8. Muscle performance and strength 9. Neuromotor development 10. Orthotic, protective, and supportive devices 11. Posture 12. Range of motion 13. Self-care and home management

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14. Ventilation/respiration Systematic documentation of disease progression is essential for timing interventions during transitions from one functional status to another or during times of increased family need.

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Diseases of the Muscle The most prevalent types of muscle disease that typically exhibit initial clinical signs in infancy, childhood, or adolescence are listed in Table 12.1. Emery-Dreifuss muscular dystrophy (humeroperoneal) is very rare and will be discussed only briefly. Limb-girdle muscular dystrophy may exhibit signs late in the first decade or in the second decade of life, and at times the onset of symptoms can occur in early adulthood; therefore along with the adult-onset forms of MD, it is not discussed in this chapter. Most diseases of the muscle are the result of single gene defects and often have either recessive or dominant inheritance patterns. Here DMD and Becker muscular dystrophy (BMD) will be used as examples of dystrophic muscle disease. The diagnosis of the specific muscle disease is confirmed by genetic testing that identifies a causative gene mutation or by muscle biopsy where an absence of or decrease in the specific protein is noted. The process of diagnosis may include a history, clinical examination, electromyography, muscle ultrasound, blood levels of the muscle enzyme creatine phosphokinase, muscle biopsy, and DNA analysis.126 Criteria for classification of the various forms of muscular dystrophy (MD) have changed over the years, and various classification systems have been suggested. When the first forms of muscular dystrophy were identified in the 1800s, phenotypic classification was the standard with distribution of weakness, age of onset, and mode of inheritance driving classification. With the growth of light microscopy, various microscopically descriptive diagnostic categorizations invaded the lexicon. In the age of genetics and identified protein products, identifying diagnosis based on the defective protein has become more prevalent. The primary impairment in all forms of muscular dystrophy is insidious weakness. In congenital forms of muscular dystrophy, the weakness is pronounced at birth and is easily recognizable. In DMD, the weakness becomes evident between age 3 and 5 years. In most diseases of the muscle cognitive function is preserved; however, there are a few exceptions to this. The incidence of

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intellectual disability is highest in congenital myotonic dystrophy with impairment correlating with physical symptomatology.26 Cognitive delay is also noted in DMD but it is less frequent. Secondary impairments in all forms of MD include the development of contractures and postural malalignment. Postural malalignment is seen in antigravity positions of sitting and standing and often includes development of scoliosis. Other secondary impairments include decreased respiratory capacity, cardiac dysfunction, easy fatigability, and, occasionally, obesity, oral motor dysfunction, and impaired GI motility. Although significant intellectual impairment is not usual in DMD, IQ commonly averages 85; 30% of boys with DMD have an IQ below 70.3 This finding is related to a loss of dystrophin in the brain and is more common with mutations in the region of exons 45–52.6,52 Learning difficulties are reported in more than 40% and ADHD in almost a third of boys with DMD while cognitive impairment is found in both DMD and BMD although those with BMD appear less impaired.21,45,285 With the progression of muscle weakness, increasing caregiver assistance is required for people with DMD to carry out activities of daily living (ADLs). Progressive disability is a hallmark of DMD and requires multidisciplinary team management to maximize participation through the use of adaptive equipment and environmental adaptations. Physical management is a key intervention in the treatment of DMD because no therapy has been found to be curative.115,175,191,258 Physical therapy has been used to prolong the child’s independence, slow the progression of complications, and improve quality of life.

Dystrophin-Associated Proteins and Muscular Dystrophy Over the past 10 years, significant advances have been made in the molecular genetics and pathophysiology of the muscular dystrophies. These advances have followed identification of the genetic defect behind DMD and the missing protein dystrophin. The pathology underlying these diseases results from a fragility in

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muscle membrane stability during muscle contraction and relative muscle hypoxia as a result of an aberrant vascular response to exercise. This combination results in a progressive loss of muscle contractility caused by the destruction of myofibrils and replacement with fat and connective tissue that can be seen on muscle biopsy as characteristic dystrophic changes. Dystrophin is present within the muscle cell and has functional attachments to both actin and the transmembrane proteins alpha and beta dystroglycan that allow the transmission of force to the extracellular matrix. These transmembrane proteins along with the sarcoglycans are termed dystrophin-associated proteins (DAPs).27 The DAPs form a complex of extracellular, transmembrane, and intracellular proteins, which are represented in Fig. 12.1.54,118 TABLE 12.1 Muscle Disease Characteristics

Dystrophin and the DAP complex as a whole act as an anchor in the intracellular lattice to enhance and transmit tensile strength. The other proteins are thought to act as a physical pathway where various transmembrane signaling molecules anchor.118 This includes alpha1 syntrophin, which is required for nitric oxide synthase regulation of muscle-specific adrenergic vasoconstriction allowing for appropriate adjustments in blood flow in the face of the metabolic demands experienced during exercise and daily activity. In addition, nitric oxide synthase, which impacts blood flow regulation, also binds with dystrophin. Alpha1 syntrophin also plays a role in regulation of sodium channels, which initiates calcium release and excitation-contraction coupling.54 Absence of dystrophin or any of the transmembrane proteins results in suboptimal integration of the complex as a whole and faulty mechanics of the cell membrane and intolerance of the

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mechanical forces that are experienced during muscle contraction.

Duchenne Muscular Dystrophy Background Information The muscular dystrophies as a group have a prevalence of between 19.8 and 25.1 per 100,000.259 DMD is the most common X-linked disorder known, with an incidence of about 1 in 3500 live male births.187 The prevalence of DMD in the general population is reportedly between 1.7 and 4.2 cases per 100,000.68,187,259 Initial diagnosis in families without a genetic history typically occurs around 5 years of age, although symptoms are often seen earlier and may be attributed to developmental delay.51 Longevity is variable, from the late teens to the end of the third or into the fourth decade, depending on the rate of disease progression, the presence of complications, and the aggressiveness of cardiopulmonary care, including the use of assisted ventilation.78 In the late 1980s Kunkel and associates141 identified the gene on the X chromosome (Xp21) that, when mutated, causes DMD and BMD; Hoffman and associates116 then identified the protein (dystrophin). Cloning of the dystrophin gene was the next major accomplishment. These seminal accomplishments provided a mechanism for prenatal or postnatal diagnosis and the differentiation of DMD and BMD from other phenotypically similar limb girdle syndromes.137 Muscle cell destruction in DMD and BMD is caused by abnormal or missing dystrophin and its effect at the muscle cell membrane and associated proteins. Mechanical weakening of the sarcolemma, inappropriate calcium influx, aberrant signaling, increased oxidative stress, and recurrent muscle ischemia all combine as mechanisms associated with myofibril damage.210 The focus of research for the treatment of DMD is on exploring genetic or molecular, cellular, and pharmacologic therapies that either promote the production of dystrophin or diminish the secondary pathophysiologic consequences including hypoxia and fibrosis.44,75,191 These interventions include gene- and cell-based replacement therapy, attempts to increase production of other dystrophin-related sarcolemmal proteins such as utrophin, and use

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of drugs such as steroids. All therapies are in the experimental stage, and the only one that is shown to modify the natural history of the disease is steroid therapy.

FIG. 12.1 Connections between the muscle

cytoskeleton and the extracellular matrix. Actin is linked through integrins to the matrix, as in many cell types. Dystrophin forms an extra link through the dystroglycan-sarcoglycan complex of glycosylated proteins. The helical section of dystrophin is homologous to spectrin and may form homodimers or oligomers. Dystrophin links two intricate systems: the sarcolemma and the basal lamina. The COOHterminus of dystrophin is associated with the sarcoglycans, dystroglycans, dystrobrevin, syncoilin, nNos, and the syntrophins. The NH 3-terminus links actin, vinculin, and the integrins with laminin and the basil lamina. These two adhesion systems provide a supportive substructure to maintain the integrity of the sarcolemma. The annexins and dysferlin have a role in muscle regeneration. (From Firestein GS, Budd RC, Gabriel SE, et al., editors: Kelley’s textbook of rheumatology. 9th ed. Philadelphia, Saunders, 2013.)

Genetic therapy research involves exon skipping and stop codon readthrough. Exon skipping involves the use of medication that

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removes entire exons from the RNA that is used to make the final protein and medication for stop codon readthrough acts to make the ribosome ignore premature stop codon signals during reading of the RNA. Exon skipping with antisense oligonucleotides can cause the damaged exon to be excluded during the splicing process, removing the damaged exon and reestablishing the reading frame. When the abnormal exon is removed, the reading frame of the ribosome is reestablished and a partially functional protein is produced.172 In the case of mutations that cause a stop codon, medications that promote the ribosome to continue reading despite the premature stop codon facilitate the production of dystrophin. Another strategy for genetic therapy is the introduction of a custom-made mini dystrophin gene that is delivered in a viral vector. The gene must be modified because of dystrophins’ large size so it fits in the vector. It is also important that it is modified to retain the functional binding domains of dystrophin but is small enough to be packaged in a virus. Pharmacologic approaches can focus on protein upregulation as a replacement for dystrophin; primarily these have focused on utrophin. Utrophin is a muscle protein that has molecular similarity to dystrophin. Utrophin levels in the muscle are high in the fetus and newborn but gradually diminish. Utrophin is found primarily at the neuromuscular or musculotendinous junction in adults and in children with DMD. Utrophin levels have been shown to increase in the mouse model of DMD through upregulation.56,260 It is hypothesized that utrophin might act as a substitute for abnormal or missing dystrophin.209 Upregulation of other compensatory proteins such as integrin and sarcospan has been reported in animal models, but human clinical trials have not yet begun.158,191 Pharmacologic approaches can also focus on ameliorating the downstream mechanisms that are at the heart of the impairment in individuals with DMD. This includes muscle fiber necrosis, fibrosis, and calcification in addition to muscle inflammation and hypoxia.139 Currently there is preliminary support for the roll of tadalafil in alleviating muscle hypoxia in boys with DMD, and clinical trials are ongoing to evaluate the impact of this on function.190 The use of creatine in boys with DMD has demonstrated improved muscle strength and endurance and a reduction in joint stiffness.20,73,136,148

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Louis and colleagues also reported improved bone mineral density in boys who were wheelchair users, suggesting that the negative effects of steroids on bone mineral density might be offset by the use of creatine. However, the impact is small: on the order of less than 9% in terms of muscle. Other downstream mechanistic targets are in various stages of evaluation and many show promise but have yet to reach clinical trials. Long-term steroid use (prednisone and deflazacort) has been shown to improve outcomes, including prolonged walking by up to 3 years, improved isometric muscle strength by 60% in the arms and 85% in the legs when compared with untreated control subjects, and improved pulmonary function and possibly even cognitive skills.22,24,28,115,175,229,284 Reported side effects, however, include weight gain (particularly with prednisone), growth suppression, cataracts, and osteoporosis. Strict dietary controls to offset the side effects are recommended.284 Deflazacort is available outside of the United States, although it has not been approved by the FDA. Although it is commonly agreed that the prevention of contractures and the preservation of independent mobility are primary goals of a physical management program,266 the prolongation of ambulation through surgery remains controversial. Some authors promote the use of surgery and lightweight kneeankle-foot orthoses (KAFO)13,18,111,120,178,256; others express skepticism about prolonging the inevitable in a progressive disease, when the financial and emotional costs to the family may be very high.88 Evidence is available that the use of steroids and supported walking and standing with KAFOs are associated with reduced risk of scoliosis development and later onset of scoliosis.134 A decreasing trend in the use of KAFOs from 69% of the MDA clinics surveyed in 1989 to 27% in 2000 has been reported12 and would suggest a trend of less aggressive orthotic management in this population. Consistent recommendations regarding the use of KAFOs for prolonged walking or standing are important, and a recognition of and discussion of the characteristics of ambulation with KAFOs are often helpful in guiding the parents in this choice. Ambulation with KAFOs is always exercise ambulation and not functional because assistance will be needed transferring to and from standing.

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Surgical management has focused on control of lower extremity contractures, use of orthoses in conjunction with surgery to prolong ambulation, and spinal stabilization for control of scoliosis. Achilles tendon lengthening and fasciotomy of the tensor fasciae latae and iliotibial bands are two procedures commonly reported to be used either in conjunction with KAFOs and physical therapy to prolong ambulation or maintain standing13,81,105,120,155 or early in the course of the disease to correct initial onset of contracture. The latter approach has been accompanied by occasional loss of ambulation if the musculotendinous unit is overlengthened and ground reaction forces are diminished. Posterior tibialis transfer into the third cuneiform to reverse equinovarus deformity has also been reported.120 Surgical management of scoliosis typically includes the use of spinal instrumentation with segmental fixation.157 With the increased prevalence of steroid treatment, the incidence of scoliosis has declined142; however, boys with DMD still have an increased risk of developing severe scoliosis.217 Orthotic management has not been shown to stop the progression of the curve,112 but fusion to avoid development of a significant curve may allow some functional benefit related to sitting balance and comfort.134,252 For many boys, spinal fusion is also met with some functional challenges that the physical therapist needs to be aware of and address proactively. All boys have a lack of spinal motion as a result of the fusion, and often when they rely on spinal (and neck) flexion to bring their mouth to their hand when feeding this can be a challenge following surgery and use of a ball bearing feeder, of which there are many kinds. Some feeders have elastic properties that drive a 4-bar linkage to unweight the arm, like the Wilmington Robotic ExoSkeleton, and to assist with antigravity movement while others are of a more basic design.74,110 Ball bearing feeders are helpful following surgery and should be in place prior to spine surgery so that the individual can become accustomed to use of the device.

Impairments, Activity Limitations, and Participation Restrictions Examination of the 4- to 5-year-old child demonstrates the onset of

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classical clinical features of DMD and primary impairment of muscle weakness. The posterior calf is usually enlarged as a result of fatty and connective tissue infiltration, which is the origin of the term pseudohypertrophic muscular dystrophy. Pseudohypertrophy occasionally can be seen to affect the deltoid, quadriceps, or forearm extensor muscle groups. Initial weakness of the neck flexor, abdominal, interscapular, and hip extensor musculature can be noted, with a more generalized distribution with progression of the disease. Fig. 12.2 demonstrates the trends of muscle strength decline up to age 16 years from a study by Brooke.34 These data were obtained in a multiclinic study of 150 children with DMD over a follow-up period of 3 to 4 years. The data represent approximately 15 data points per boy, as recorded during followup visits. Similar findings on anthropometric data, range of motion, spinal deformity, pulmonary function, and functional skills were reported by McDonald and colleagues167 in a cohort of 162 boys with DMD followed over a 3-year period and for the 6-minute walk test and dynamometry in over 400 boys.96,166

FIG. 12.2 Muscle strength 50th percentile lines plotted

against age of 150 children with Duchenne muscular dystrophy (Redrawn from Brooke, MH: A clinician’s view of neuromuscular diseases. 2nd ed. Baltimore, Williams & Wilkins, 1986.)

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Muscle strength can be documented using manual muscle testing (MMT), which has been reported to have acceptable intrarater reliability,80 although it is not as sensitive as using specialized devices such as a dynamometer. Instruments such as a handheld dynamometer248 or strain gauge devices37 can be used to obtain objective strength recordings in the older child to assist in monitoring the progression of the disease process. Timed functional activities have also been shown to be closely correlated to muscle strength and are predictive of loss of ambulation. Ten-meter walk/run time more than 9 seconds and inability to rise from the floor predict loss of ambulation within 2 years, and a 10-meter time of more than 12 seconds predicts loss of ambulation loss within 1 year.164 No limitations in range of motion (ROM) are typically noted before 5 years of age in DMD. Mild tightness of the gastrocnemiussoleus and tensor fasciae latae muscles usually occurs first. The normal lordotic standing posture is increased, and mild winging of the scapulae is then seen as compensation to keep the center of mass behind the hip joint to promote standing stability (Fig. 12.3). Scoliosis typically develops just before or during adolescence.

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FIG. 12.3 A patient with typical Duchenne dystrophy;

notice prominent lordosis and winging of the scapulae and mild calf muscle enlargement. (From Bertorini TE: Neuromuscular case studies. Philadelphia, Butterworth-Heineman/Elsevier, 2008.)

Foreground Information Management Considerations An international collaboration recently published a consensus document on the management and outcome measurement for patients with DMD.39,40 More specific information related to physical therapy management by age and progression follows. See Box 12.1 for key tests and measures.

B O X 1 2 . 1 Evidence-Based

Tests and Measures

Duchenne Muscular Dystrophy Body Functions and Body Structures Goniometry Handheld myometry Manual muscle testing Quantitative muscle testing (for DMD) Pulmonary function testing

Activity: Single Task 6-minute walk test Timed testing (10-m walk/run, time up 4 steps, timed Gowers’, timed sit-to-stand) 9-hole peg test

Activity: Multiple Items Northstar ambulatory assessment The Performance of Upper Limb for Duchenne Motor function measure Brook Scale (classification) Vignos Scale (classification)

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Participation: Multiple Items Health Utilities Index Questionnaire PEDS QL Egen Klassifikation Scale

Spinal Muscular Atrophy Body Functions and Body Structures Goniometry Handheld myometry Manual muscle testing Quantitative muscle testing (for SMA) Pulmonary function testing

Activity: Single Task 6-minute walk test

Activity: Multiple Items Northstar ambulatory assessment Revised upper limb module for SMA Motor function measure

Participation: Multiple Items Pediatric Evaluation of Disability Index PEDS QL Egen Klassifikation Scale

Infancy to Preschool-Age Period Impairments, activity limitations, and participation restrictions typically seen in the infant or toddler with DMD are related to delayed development. Gardner-Medwin89 reported that half of the children fail to walk until 18 months of age. Delay in walking, however, rarely leads to the diagnosis of DMD. Symptoms of obvious weakness are seldom noted before age 3 to 5 years unless the family history is positive and caregivers are looking for early signs. The mean age at diagnosis is usually reported to be around 5 years.178 Although no significant disability occurs in early childhood, many disability-related issues must be addressed. The family will

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have questions regarding peer interaction, routine activity level for the child, and the prognosis. The therapist must be aware of each family’s coping response, goals, and needed supports, to provide family-centered care. This is the appropriate time to discuss with the family the social aspects of the disability and to answer questions without portraying a future without hope. Given the established natural history related to contracture of the ankle anticipatory guidance related to early night splinting and range of motion can be considered at this time.

Early School-Age Period Initial limitations in activity in DMD typically become more apparent by age 5 years and include clumsiness, falling, and inability to keep up with peers while playing. The young child’s gait pattern is only slightly atypical, with an increased lateral trunk sway (compensated Trendelenburg). Attempts at running, however, accentuate the waddling pattern, and running is marked by a high step pattern with limited push off. Gowers’ sign (through plantar grade using the arms to push on the thighs to attain standing) is usually present when the child transitions from the floor to assuming a standing position (Fig. 12.4). Stair climbing and arising to standing from the floor become progressively more difficult and signal the first significant functional limitation by age 6 to 8 years. Progressive changes in the gait pattern include deviations of an increased base of support, pronounced lateral trunk sway (compensated Trendelenburg), toewalking, and lordosis with retraction of the shoulders with lack of reciprocal arm swing. Toe-walking initially may be a compensation for weakness of the abdominal and hip extensor muscles or may be related to limited ankle range of motion and the inability to attain a comfortable plantar grade posture. A restrictive pattern of pulmonary impairment and progressive decline in maximal vital capacity also becomes increasingly evident.87 Physical therapy management typically begins when the child is initially diagnosed at age 3 to 5 years. Goals of the program are to provide family support and education, obtain baseline data on muscle strength and ROM, monitor for the progression of muscle weakness that will lead to limitations in activity and participation,

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and, most importantly, maintain flexibility. Initial therapeutic input should not be burdensome to the child or family and is typically limited to ankle stretches and night splinting because the child is usually independent in all ADLs before the age of 5 years. Information should be provided to the family pertaining to the therapist’s role as a member of the management team. An appropriate activity level to avoid fatigue should be discussed with the family and school staff. Information on services available through the local MDA office should be provided, including identification of support groups or contact families. Strength and exercise Muscle weakness is apparent in the school-age child by age 6 to 8 years and should be objectively documented using a handheld dynamometer,248 electrodynamometer,228 isokinetic dynamometer,180,231 or other device. Use of a dynamometer in conjunction with manual muscle testing has been shown to provide reliable information on the progression of weakness in key muscle groups.37,83,248 Contracture development should be documented using goniometry and a standardized protocol. Intrarater reliability of measurements has been shown to be acceptable in providing objective information for program planning when a standardized measurement protocol is used.199

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FIG. 12.4 Gowers’ sign in a boy with hip girdle

weakness due to Duchenne muscular dystrophy. When asked to rise from a prone position (A), the patient uses his hands to walk up his legs to compensate for proximal lower extremity weakness

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(C–D). (From Kliegman RM, Stanton B, St. Geme J, et al., editors: Nelson textbook of pediatrics. 20th ed. Philadelphia, Elsevier, 2016.)

The role of exercise in the treatment of DMD is controversial.7,8,82,104,266 It is widely accepted that both eccentric strenthening48,121,125,269 and immobilization269 are detrimental. The use of graded resistive exercise has been reported to have a range of results from good268 to limited59 to adverse.7 Resistive exercise theoretically would be indicated with the disproportionate loss of type II (fast-twitch) muscle fibers in DMD.67 However, the use of resistive exercise in the young school-age child with DMD should not be universally prescribed. An early submaximal endurance exercise program has been shown to have beneficial effects.84,97 However, the optimal characteristics of exercise and intensity are not well understood and such an approach should be offered only to families who have a specific desire to include it in the child’s program.123 Consideration should be given to the fact that significant muscle weakness is not seen in the early stage of the disease, and the use of an exercise program may be burdensome to the child and family. If exercise is initiated early, the key muscle groups to be included are the abdominal, hip extensor and abductor, and knee extensor groups. Cycling and swimming are excellent activities for overall conditioning and are often preferred over formal exercise programs.3,8,89,124,266 Standing or walking for a minimum of 2 to 3 hours daily has also been recommended.240,286 High-resistance and eccentric exercise should be avoided; however, the characteristics required to optimize exercise are clearly still controversial.7,8,9,43 Range of motion One of the primary considerations in the early management program of the young school-age child is to slow the development of contractures. Contractures have not been shown to be preventable, but their progression can be slowed with positioning and a ROM program.122,232,234,283 The initial ROM program should include stretching the gastrocnemius-soleus and, later, the hamstrings and tensor fasciae latae. Progressive contracture of the gastrocnemius-soleus and tensor fasciae latae corresponds to gait

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deviations of toe-walking and increased base of support. Stretching for the gastrocnemius-soleus for older children can be done using a standing runner’s stretch. The child stands on a supportive surface, places one leg back at a time with the knee straight, and leans forward. The position also assists with maintenance of hip flexor flexibility; however, specific stretching for the hip flexors should be included when any limitation is noted. Having the child lie supine with one thigh off the edge of a mat or bed and the other held to the chest (Thomas test position) can be used to stretch the hip flexors initially. An alternative method is discussed later for use as progression of hip extensor weakness evolves. A standing stretch for the tensor is accomplished by having the child stand with one side toward the supportive surface with the feet away from the wall and with the knee kept straight while leaning sideways toward the supportive surface. A home ROM program should be emphasized for the young child, and the family should be instructed in the stretching activities because self-stretch in young children is often not effective. Agreement is lacking as to the frequency and duration of the stretching program. Suggested frequency of the program varies from once daily89,178,232 to twice daily,269,286 and duration from 1 repetition up to 10; however, total end range time is likely an important factor as well.269 Other authors have suggested a time frame of 10283 to 2089 minutes to complete the stretching exercises. As a general recommendation, each movement should be repeated for five repetitions with a 30- to 60-second hold in the stretched position. The stretch should be done slowly and should not be painful. A good rule is to use the child’s tolerance to guide the program because stretching needs to be a continuous process over the life span. Developing a good relationship with the child and allowing him or her a degree of control over what can be at times uncomfortable are important factors in successful implementation. Reassessment of the contracture progression should be used as the final guide to stretching frequency and duration. The ROM program can often be part of the physical education program at school. Instruction should be provided to the physical education teacher to develop an adapted program, particularly if the teacher does not have an adapted physical education

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endorsement. General physical education activities will require modification for the child’s participation and should not be exhaustive. Physical fitness test activities such as push-ups, sit-ups, or timed running for long time periods should be modified or excluded to avoid fatigue or overwork weakness. Night splints are helpful for slowing the progression of ankle contractures and should allow positioning at comfortable end range. Scott and associates232 studied the efficacy of night splints and a home ROM program in a group of 59 boys diagnosed with MD and ranging in age from 4 to 12 years. Subjects were categorized into three groups on the basis of adherence with splint wear and use of stretching. The group that followed through on the daily passive stretching program and the use of below-knee splints over the 2 years of the study demonstrated significantly less progression of Achilles tendon contractures and less deterioration in functional skills, leading to a longer period of independent walking. Boys in the group who did not follow through on the stretching or splint program lost independent walking at a younger age. In a randomized study comparing the effects of ROM exercise versus ROM and night splints, the combined intervention was found to be 23% more effective than ROM alone in slowing the progression of posterior calf contracture.122 Similar findings were reported in a study by Seeger and colleagues,234 which compared the use of night splints, stretching, and surgery. For those who are unable to adhere to night splinting and stretching regimens, serial casting is an option to improve range of motion. However, one must be cognizant of the fact that the gain in range of motion in this population is slower and the risk of tendonitis and falls is greater than other populations that use serial casting. Therefore it should be reserved for individuals who are relatively more functional and can rise from the floor without assistance.92,153 The use of prone positioning at night to slow the progression of hip and knee flexion contractures may be possible if tolerated by the child. The recommendation to have the child sleep prone with the ankles off the edge of the bed has not been shown to affect the progression of knee flexion contractures but is theoretically beneficial. Additionally, the progression of knee flexion contractures is slow prior to loss of ambulation and therefore

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generally does not impact function until the child is using a wheelchair full time. Respiratory function and spinal alignment. A clinical estimate of respiratory function can be obtained through measurement of respiratory rate and chest wall excursion (using a tape measure) and by noting the child’s ability to cough and clear secretions. A portable spirometer is recommended to obtain a more direct and objective reading of expiratory capacity before formal pulmonary function testing is needed. Breathing exercises have been shown to slow the loss of vital capacity and forced expiratory flow rate.138,160,222 Game activities such as inflating balloons or using blow-bottles to maintain pulmonary function can easily be included in a home program and will decrease the severity of symptoms during episodes of colds or other pulmonary infections. Inspiratory muscle training has also been investigated in patients with DMD and has good support in the literature with short-term follow-up.261 Scoliosis is not common when the child is ambulatory, but the spine should be checked routinely.134 Kinali and associates134 report an incidence of scoliosis ranging from 68% to 90% in boys with DMD who are not on steroids. Onset is typically seen after cessation of standing at around 12 years; however, this has become significantly more variable with the increased use of steroids in this population and many boys don’t develop scoliosis. Postural analysis using the forward bend test is recommended to monitor spinal alignment for scoliosis. The presence of a rib hump with the forward bend test verifies a structural versus functional curve of the spine. Amendt and colleagues1 demonstrated that a rib hump measuring at least 5° of inclination with a scoliometer is a reliable method and can be correlated with radiographic assessment. Although the study by Amendt and colleagues1 was not inclusive of children with DMD, it demonstrates an objective method of performing noninvasive screening for scoliosis. Orthopedic referral is indicated if a rib hump is documented. Surgical intervention for scoliosis is ideally completed while the curve is still flexible and pulmonary function relatively intact and may not be possible for individuals when vital capacity values fall below 30% of age norm values.156

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Functional mobility, equipment, and participation. An examination to document limitations in activity and participation is essential. Various formats have been reported245,270 that are variations of the guidelines initially published by Swinyard and associates.255 A classification system published by Vignos and colleagues269 is outlined in Box 12.2. A more detailed examination format for DMD published by Brooke and associates35 includes pulmonary function and timed performance of activities, the latter of which along with the 6-minute walk test (6MWT) (see Chapter 2) has become a standard measurement tool in patients with DMD.201 Normative data for DMD have been published using the clinical protocol of Brooke and associates.34 A similar assessment called the North Star Ambulatory Assessment (NSAA) has been devised and reliability established for use in multicenter clinical trials.60,163 The assessment tool chosen will depend on the diagnosis because tools vary in their responsiveness depending on the rate of progression and pattern of progression of the various types of muscular dystrophy.39,149 Other functional assessment tools, such as the Performance of Upper Limb (PUL) for DMD, Pediatric Evaluation of Disability Inventory (PEDI)107,200 (see Chapter 2), the School Function Assessment (SFA)55 (see Chapter 2), the Egen Klassifikation (EK) Scale,245 or the Barthel Index,189 should also be considered to obtain more specific information on the child’s functional skills. The EK Scale, which was recently validated for DMD and SMA, includes ordinal scoring of 10 categories, including items on mobility, transfers, ability to cough/speak, and physical well-being and reflects the untreated natural history of the disease. The PEDI, the SFA, or the Vignos (Brooke) functional testing format can be used for diagnosis of other types of MD or SMA.

B O X 1 2 . 2 Vignos

Functional Rating Scale for

Duchenne Muscular Dystrophy 1. Walks and climbs stairs without assistance 2. Walks and climbs stairs with aid of railing 3. Walks and climbs stairs slowly with aid of railing (over 25 seconds for eight standard steps)

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4. Walks, but cannot climb stairs 5. Walks assisted, but cannot climb stairs or get out of chair 6. Walks only with assistance or with braces 7. In wheelchair: Sits erect and can roll chair and perform bed and wheelchair ADLs 8. In wheelchair: Sits erect and is unable to perform bed and wheelchair ADLs without assistance 9. In wheelchair: Sits erect only with support and is able to do only minimal ADLs 10. In bed: Can do no ADLs without assistance Data from Vignos PJ, Spencer GE, Archibald KC: Management of progressive muscular dystrophy. JAMA 184:103-112, 1963. Copyright © 1963, American Medical Association.

Falls and complaints of fatigue while walking become increasingly more frequent as the child reaches age 8 to 10 years. Guarding during stair climbing or during general walking should be considered to ensure safety as balance becomes tenuous. As weakness progresses it is important to maintain an open dialogue with the family regarding the risk of falls and potentially fractures. This discussion should also focus on the risks of restricting mobility to prevent falls, recognizing the disuse atrophy that can accompany restriction beyond what is necessary for safety. Each parent will balance the risks and benefits of end-stage ambulation differently and needs to be supported through this process. A manual wheelchair, stroller, or scooter with appropriate fit and accessories will allow for limited mobility as walking becomes more difficult. As progression of weakness in the trunk and hip girdle begins to make walking difficult, a similar amount of weakness of the shoulder girdle musculature is also present, making propulsion of a manual wheelchair difficult, except on level and smooth surfaces such as linoleum. A motorized scooter should be considered to provide the child with independence provided that access is available in the home and school (Fig. 12.5). Ideally a scooter (or stroller) is obtained well in advance of loss of ambulation, when there are many years of walking ahead. It is often used for long community trips and should be considered when the family begins to select options for entertainment based on what activities the child has the endurance to participate in. When this is the case, a mobility device can help the child regain access to those marginal activities,

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which is emotionally positive for the child and family because loss of ambulation is not a risk at that stage. Information should be made available to families concerning recreational activities provided through the local chapter of the MDA or other groups. Summer MDA camp is a wonderful experience for most children, and a support group is often developed for the child or family through participation in MDA and other group activities that provide both physical and emotional support (Boxes 12.3 and 12.4).

Adolescent Period Adolescence marks a time of significant progression of physical symptomatology that results from the combined impact of muscle weakness and contractures. Walking is typically lost as a means of mobility, and increasing difficulty in mobility and transfers is seen. Use of powered mobility becomes necessary during adolescence. When powered mobility is used, assistance with finances for the purchase of equipment or home modifications for access is typically needed, with coordination through a social worker or an MDA patient services coordinator. Many MDA offices have equipment pools that allow families to borrow equipment, including power chairs, at no cost. Changes in physical capacity such as muscle strength and pulmonary function using the EK Scale have been reported among adolescents by Steffensen and colleagues.244 Muscle weakness leads to increasing difficulty with ADLs, including dressing, transfers, bathing, grooming, and feeding. Physical and occupational therapists can help during this time by providing adaptive equipment or alternate strategies. Surgical intervention may be considered for the management of scoliosis47 or contractures or to prolong exercise ambulation with the use of orthoses if this is the family’s choice.18 Exercise and range of motion With the cessation of walking in late childhood or early adolescence, the emphasis of an endurance exercise program should shift from the lower extremities to the upper extremities. More important, however, active endurance exercise should be encouraged by having the adolescent assist as much as possible in

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ADLs such as grooming, upper body dressing, and feeding through consultation with an occupational therapist and by either a pool or upper extremity ergometry program.3 Key muscle groups for maintenance of strength for transfers include the shoulder depressors and triceps. The shoulder flexor and abductor and elbow flexor muscle groups are key areas for exercises to maintain routine ADLs such as self-feeding and hygiene. Weakness of the upper arm musculature by 16 years of age makes ADLs extremely difficult, and consideration of mobile arm support is important when these activities are effortful in advance of a complete inability to participate in feeding and grooming.

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FIG. 12.5 Motorized three-wheeled scooter for

independence in distance mobility as an adjunct to walking.

B O X 1 2 . 3 Evidence-Based

Children With DMD

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Examinations for

Body Functions and Body Structures Goniometry Handheld myometry Manual muscle testing Quantitative muscle testing Pulmonary function testing

Activity: Single Task 6-minute walk test

Timed Testing (Time and Grade) Timed up/down 4 steps Timed Gowers’ Timed 10-m run/walk

Activity: Multiple Items Northstar ambulatory assessment Performance Upper Limb Module for DMD Motor function measure

Participation: Multiple Items Pediatric Evaluation of Disability Index PEDS QL Egen Klassifikation Scale Health Utilities Index Questionnaire From Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ: Clinical trial in Duchenne dystrophy: I. The design of the protocol. Muscle Nerve 4:186197, 1981.

B O X 1 2 . 4 Evidence-Based

Interventions for

Children With DMD Body Functions and Body Structures Stretching Night splinting at end range Concentric endurance exercise (pool, bike, non–weight bearing) Inspiratory muscle training

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Cough assist/BiPAP with respiratory insufficiency (per pulmonary) Percussion and postural drainage (with upper respiratory infection)

Activity Standing program prior to or at cessation of ambulation Mobile arm support with feeding difficulty or prior to spinal fusion

Participation Power mobility Environmental modification Ramps Bathroom adaptation or equipment Van with lift/tie down Assistive tech for computer access (onscreen keyboard dictation programs etc.) Adapted gym/sport activity The ROM program will require further modification as the adolescent becomes nonambulatory. Gentle stretching of the ankle, hamstrings, hip flexors, and iliotibial band that were initiated in the school-age child should be continued to maintain flexibility. Additionally, stretching of the long finger flexors, shoulder, and elbow should be included as indicated. Limitations in shoulder flexion and abduction, elbow extension, forearm supination, and wrist extension are most common. Once ambulation is lost, the focus of manual stretching often needs to shift. Contracture of the ankle and knee that typically accompanies the loss of ambulation can be diminished with the use of a standing program, and splinting can be used either in the daytime or night depending on preference. Contractures should continue to be monitored to ensure that they do not become an obstacle to routine ADLs, and the focus of the range of motion and splinting programs needs to be shifted to maintaining upper extremity flexibility and functional skills. Typical upper extremity contractures that begin to develop at this stage include the forearm pronators, elbow flexors, and long finger flexors. Later in the course

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of the disease the thumb adductors also become affected. The shoulder musculature is also at risk for contracture but is much less functionally relevant due to the severe proximal weakness that is present. However, maintenance of shoulder ROM might be important in the context of any shoulder pain that might develop later in the course of the disease. Respiratory function and spinal alignment Maintaining the spine in a neutral or slightly extended position is essential to slow the formation of a scoliosis. The spine should be in slight extension to increase weight bearing through the facet joints, minimize truncal rotation and lateral flexion, and slow the progression of scoliosis formation.90 The lordotic posture in the ambulant child is suggested to delay development of spinal collapse, and prolonging ambulation can slow the development of scoliosis.119 Spinal orthoses have not been shown to prevent development of a significant scoliotic curve.41,53 Custom-molded seating inserts, corsets, and modular seating inserts are options to provide trunk support in an attempt to slow the progression of the scoliosis. However, studies comparing the three methods of spinal control in DMD have concluded that the progression of the curvature was not significantly changed by any of them.53,235 With the use of corticosteroids the risk of developing scoliosis that requires surgical intervention has been reduced from 90% to only 15% to 20% of patients.119,142 When necessary, early surgical intervention is recommended for the control of scoliosis through the use of segmental spinal instrumentation with Luque rods or similar techniques.157,177,237 Miller and associates177 have reported improved quality of life, attainment of a balanced sitting posture, and more normal alignment following surgical intervention for scoliosis.119,142,143 Suk and colleagues252 have reported reduced rates of pulmonary function decline following spinal fusion as compared to no surgical intervention. Pulmonary complications are reported as minimal if forced vital capacity is at least 30% of normal agepredicted values.5 Continuation of standing or walking As muscle weakness becomes more pronounced in the trunk and

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hip musculature and as contractures of the hip flexors, tensor fasciae latae, and gastrocnemius-soleus progress, walking becomes increasingly difficult until cessation of independent walking occurs, usually by age 10 to 12. If orthoses or a stander is used to maintain a standing or walking program, it should be initiated before the child reaches the stage of being nonambulatory. If a stander is the choice, one might consider ordering one when the 10-meter walk time falls below about 9 seconds so that the child can begin a standing program prior to the loss of ambulation. The use of orthoses for a standing program or continuation of supported walking is not appropriate for all individuals; in fact, this should be considered a personal rather than a therapeutic decision. Although a standing program may be useful to slow the progression of contractures, a braced walking program has little long-term functional or practical application aside from contracture prevention. The child will eventually use a wheelchair, so it is often easier for the child to accept this transition rather than hold on to ambulation when it is no longer functional. Continuation of standing through use of a standing frame, knee immobilizers, or KAFOs is a goal at our facility to address the issue of decreased bone mineral density168 and subsequent increased risk of contracture and fracture.23 Because surgery is often required in addition to orthotics for prolonged ambulation, there are additional risks associated with this option. The parents and the adolescent must agree to balance these risks with a realistic informed view of the characteristics and functionality of ambulation that will be gained. Prolongation of ambulation through surgery and orthotics is not a common goal. More typically, power mobility, adaptive equipment, and environmental adaptations provide for a more functional experience and tend to optimize quality of life. Prognostic factors for success that should be considered in making the decision to use orthoses to prolong walking include residual muscle strength (approximately 50%)266; absence of severe contractures; timely application of braces13; residual walking ability267; and motivation of the child and family.32 The degree of cognitive impairment and obesity should also be considered. The timely use of orthoses has been shown to prolong walking.13,32,111 If the decision to use orthoses to prolong standing or walking is

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made, KAFOs should be prescribed (Fig. 12.6).18,32 The characteristics of ambulation with KAFOs should be reviewed with the patient and family including the need for assistance with transferring from sitting to standing so that an informed choice can be made before pursuing these devices. Ankle-foot orthoses (AFOs) are appropriate for positioning but do not provide the knee stability required to avoid falls while walking. Although the use of AFOs to control equinus is common for other diagnoses such as cerebral palsy, with DMD the orthoses often interfere with walking speed and step length.263 Assistive devices such as standard walkers, crutches, or canes are seldom functional because of the degree of proximal shoulder girdle and upper extremity muscle weakness that is present. Standby assistance should be provided when KAFOs are used owing to the risk of injury from falls. Closer guarding and increased assistance will be needed as the weakness progresses. Transfers to and from standing are dependent because the knee joints of the KAFO must be locked to provide stability. KAFOs or standers that can accommodate ankle, knee, and hip contractures and allow for a lateral transfer in sitting and a transition to standing in the device can be used for continuation of a standing program even after walking is no longer possible.

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FIG. 12.6 Polypropylene knee-ankle-foot orthosis on

two brothers (ages 12 yr and 9 yr) with Duchenne muscular dystrophy. They had continued ambulation in orthoses 2 years and 6 months, respectively, after provision of orthoses. (From Dubowitz V: Deformities in Duchenne dystrophy. Neuromuscul Disord 20[4]:282, 2010.)

The patient may prefer surgical intervention and braced ambulation. Indications for surgery include ankle plantar flexion contractures greater than 10°, iliotibial band contractures greater than 20°, or knee-hip flexion contractures greater than 20° but less than 45°.32 Subcutaneous tenotomy of the Achilles tendon or more commonly gastrocnemius facia lengthening and fasciotomy of the

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iliotibial bands are the most commonly reported surgical procedures.13,32,120,266 Transfer of the posterior tibialis tendon is occasionally used for correction of equinovarus foot posture.120,230 An intensive postoperative management program is essential to minimize the effects of immobilization.241 Standing in the plaster casts can be done on the first or second postoperative day. Gait training is begun as tolerated, and general conditioning exercises for the hips, trunk, and upper extremities are recommended. Breathing exercises and aggressive pulmonary management should also be stressed with any surgical procedure to minimize the chance of postoperative atelectasis and pneumonia.179 A smooth transition to bracing is ensured by having the child fitted for the KAFOs before hospitalization for surgery. Functional mobility and equipment Various methods to predict the termination of walking have been reported, including 50% reduction in leg strength,231,267 manual muscle test grade below grade 3 for hip extensors or below grade 4 for ankle dorsiflexors,167 or inability to climb steps. Brooke and colleagues34 reported the cessation of unassisted walking within 2.4 years (range, 1.2–4.1 years) when 5 to 12 seconds was required to climb four standard steps, or within 1.5 years (range, 0.6–2.2 years) when longer than 12 seconds was required. Monitoring and management of contractures become a key element in maintaining walking when the older child spends more time in a sitting position. Because the hip extensor musculature is significantly weak in the early stage of the disease and weakness of the quadriceps muscles becomes pronounced by age 8 to 10 years, inability to maintain the center of gravity behind the hip joint or in front of the knee joint during stance will lead to loss of the ability to stand. Standing pivot transfers eventually will be replaced by one- or two-person lifts or use of a patient lift because of the development of knee and hip flexion contractures and the pronounced weakness of the lower extremities. Transfers to and from the wheelchair, toilet, tub, car, and furniture usually become dependent shortly after the loss of ambulation. A sliding board typically is not functional due to the significant upper extremity weakness, and hydraulic lift can help during transfers. Parents typically prefer

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manual lifting with either a one-person or two-person lift for as long as one of them is able. Despite this, having an hydraulic lift in place so both parents can participate in transfers or in case one parent becomes injured is important to consider. Proper instruction for transfers is also needed because the degree of trunk muscle weakness makes sitting balance more and more tenuous as the child ages. If the caregiver is using manual lifting for transfers, he or she should be observed for and instructed in proper body mechanics and safety. A hydraulic lift can be used for transfers to and from the wheelchair, particularly when the adolescent is large or obese or when the caregiver cannot safely perform a manual lift. A U-style divided leg sling with headrest extension should be used with the lift to provide adequate head and trunk support during transfers and to allow the sling to be removed from under the child after the transfer. Hydraulic lifts cannot be used for transfer to the tub or shower. If the parents are unable to lift the child to a bath bench, either a dedicated tub lift or sliding-style shower commode that can roll over the toilet and then attach to a base in the shower or tub and slide onto the secondary base for bathing can provide a solution for limited bathroom transfers. Some families will have the resources to construct a barrier-free shower for bathing for which they will need a wheeled rehabilitation shower commode. Depending on bathroom accessibility and the amount of renovation that is done, a review of the bathroom size and layout is necessary to ensure that the chosen equipment will fit in the existing space. Many bathrooms are small, and sliding-style shower commodes do not fit, so alternative systems may need to be considered. A power scooter like the one shown in Fig. 12.5 should be considered as an initial power wheelchair prescription for the child who is having difficulty for longer distances in the community. This transition is often easier when ambulation is still secure and limitations are related to endurance. The power scooter can be presented as an opportunity to access social and community activities that the child no longer chooses to participate in because ambulation has become limited either from a stability or endurance point of view. Because the child no longer chooses to participate in the activities, he or she will be less concerned with substituting

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power mobility for ambulation and more accepting of now having access to an activity that he or she has since abandoned. The scooter is also often more easily accepted by the child and may be used as an initial step in the transition to a standard power wheelchair because it can fold and stow in the trunk of a car. One needs to be aware that the scooter will not be able to be used for transport on a bus to and from school, and the child will need to be able to transfer out of the scooter to a standard bus or car seat or obtain a wheelchair that is crash tested for transit. If a power scooter is used initially, transition to a power wheelchair will be necessary when the adolescent is seen propping on the arm rests for trunk control or is no longer able to maintain contact with the tiller to drive. Asymmetric sitting postures should be aggressively managed owing to the correlation of increased sitting time and asymmetric sitting posture with the onset of scoliosis. A manual wheelchair or stroller can be considered as a backup to the primary power mobility device if resources allow and can be used for nonaccessible areas in the usual environment. Architectural barriers in the home or inability to transport a power wheelchair may also necessitate the use of a manual wheelchair, manual wheelchair with power assist, or a scooter, all of which can be stowed in the trunk of a car. However, ramps or lifts for the home are the best long-term solution to accessibility barriers because they allow full use of the power wheelchair. Additionally, if an adapted van is not available, an alternative device as a backup should be considered and is often available through insurance or as a loaner from some parent organizations such as the MDA. Fit of the wheelchair must be closely monitored to provide adequate support. The reader should refer to Chapter 33: Assistive Technology for information on wheelchairs and postural support systems. Special attention should be given to alignment of the spine and alignment and pressure relief for the pelvis. Accessories to be considered for the manual or power wheelchair prescription should include a solid back and seat, lateral trunk support on the side of the joystick, adductor pads, seat belt, and chest strap. The angle adjustable footrests should be modified to support the ankle in a neutral position. Additional items that may be appropriate include a tray, head support, or coated push rims, if the child has the

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strength to propel the wheelchair. A reclining back will allow a position change for toileting or changing while sitting in the wheelchair and will help deter flexion contracture formation at the hip, and a tilt-in-space option can be considered to allow for pressure relief. Midline placement of the control stick on a power wheelchair may be considered to assist in symmetrical trunk alignment if the child chooses to have a tray in place most of the time. However, many children will prefer to have a joystick with a quad link mount that they can push out of the way, allowing them to roll up to a table. The seating evaluation should start with the base of support and evaluation of the pelvis. It is important to note where the weight line falls within the base of support and how this impacts pressure distribution. The patient’s weight line must be assessed both in the frontal and sagittal plane; this becomes more critical the weaker the boy and the more tenuous the head control becomes. The younger patient who has relatively good sitting balance will do well with a cushion with a foam base and flow lite pressure-relieving gel. For individuals in the later stage of disease or those with more rigid pelvic obliquity, often the high side of the pelvis will need to be supported either with a foam obliquity insert in the cushion or with an air-filled cushion that allows the four quadrants of the cushion’s pressure to be adjusted. This will provide for accommodation of the fixed pelvic deformity, as might be the case following spinal fusion. In the sagittal plane, most boys will sit forward with an anterior pelvic tilt that allows them to rely on the contracted posterior neck ligaments to aid in head control. This forward posture also aids in allowing the patient to shift his weight because there is no friction with the wheelchair back and the patient’s center of gravity is directly over the base of support. Some boys will prefer a chest strap to lean on while others will need this only for stability around corners in a vehicle. It is important to recognize this is not a crashtested restraint and that the wheelchair and child need to be secured in the vehicle with an appropriate crash-tested restraint. Management of lower extremity positioning in the wheelchair needs to account for the tendency for patients to assume a hipabducted, ankle planovarus posture. The use of hip adductors mounted on the wheelchair to maintain alignment is important, and

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footrests that allow plantarflexion adjustment are also helpful. The headrest is less critical and typically is used only when the tilt function of the wheelchair is accessed unless the patient sits back in the chair. The family will need to consider additional equipment or home modifications as the child reaches adolescence. A van with a lift or ramp will be needed to transport a power wheelchair. Modification of the bathroom can significantly assist the family when a wheeled commode chair is used for toileting and bathing with a handheld shower. A slider-style bath system is a second option for bathing. Both systems will allow the child to use a mechanical lift in the bedroom, roll over the toilet, and then either roll into an adapted shower or slide over the tub or into a stall shower without necessitating an additional transfer. A urinal should be available at home and at school to decrease the frequency of transfers to the toilet, and some are specifically molded for use in a wheelchair. Modifications of the bed are also frequently required because the adolescent is unable to change position. An airflow mattress, eggcrate or memory foam cushion, and hospital bed are all possibilities to be considered. A positioning program to include position changes at night is necessary for adolescents who are thin in order to provide comfort and prevent skin breakdown. Customized foam wedges fabricated by the therapist or moldable pillows may also be helpful in positioning at night.

Transition to Adulthood The transition to adulthood marks a time of continued progression of disability with greater reliance on assistive technology for environmental access and increased need for assistance to carry out routine ADLs.247 Mobility using a power wheelchair is necessary because upper extremity and truncal weakness typically will not allow use of a motorized scooter once weakness progresses. Assistance with ADLs, including dressing, transfers, and bathing, is now required. Hygiene about the face and feeding become increasingly difficult but usually remain manageable for a period of time. Many social issues also arise with the completion of educational programming and transition to a prevocational, vocational, or home environment on a more full-time basis.

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Another major issue that requires thoughtful consideration by the family, individual, and management team is the utilization of assisted ventilation with progressive respiratory involvement at the terminal stage of the disease. Although it may be assumed by care providers that the quality of life and therefore satisfaction are significantly reduced for severely disabled individuals with DMD, this notion may be incorrect. In a survey of 82 ventilator-assisted individuals with DMD, Bach and colleagues15 concluded that a vast majority of individuals had a positive outlook and were satisfied with life despite the physical dependence. Furthermore, it was found in a survey of 273 physically intact health care professionals that they significantly underestimated patient life satisfaction scores, and therefore they may make patient management recommendations based on their attitudes rather than on the patient’s wishes. Bach and colleagues15 strongly recommended that we as professionals need to objectively assess family and individual needs when interacting to provide therapeutic programs and the inclusion of social work and psychosocial support in this process may be helpful. With the early use of steroids and intervention with ventilator assistance, longevity has been reported to increase into the third or fourth decade.188 The physical therapist should be aware of the stages of disease progression and especially the preterminal signs to avoid making inappropriate comments concerning prognosis. Often little needs to be said, but rather a good listening ear is needed to help the family work through the crisis that is ever pending. The person with DMD and his family members may indicate the need for additional support, and if issues are not being resolved adequately by the support that is available, consideration for involvement by a social worker, psychologist, counselor, clergy member, MDA support group, or other trained professional is indicated. Literature is available through the MDA to comfort family members, and texts are available if the family is interested.46,188,220 Respiratory function Progressive muscular weakness results in decreased ventilatory volumes caused by restriction of chest wall excursion both as a

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result of weakness and contracture. Forced vital capacity and peak expiratory flow typically improve in absolute value until the age of 10, and after the age of 18 typically both FVC and PEF show a decline over time.161 Coordination of care with the respiratory therapist is essential when clinical findings of respiratory muscle weakness, inability to cough, or chest wall restrictions are observed. Close monitoring of respiratory function should become routine with increasing age because respiratory failure or pulmonary infection is the major contributing factor to death in children with DMD.91 Longevity in DMD can be significantly prolonged by assisted ventilation.16,65 A 1997 survey of MDA-sponsored clinics reported that 88% of clinic directors offered noninvasive ventilatory aid for acute respiratory failure.12 Bach and Chaudhry12 stressed the need for health care professionals to explore attitudes toward mechanical ventilation because our perceived impression of patient desires may often be incorrect. The use of daytime intermittent positive-pressure ventilation via mask or nasal cannula, nocturnal bilevel positive airway pressure (BiPAP), negative-pressure ventilators, and suctioning should be considered for the chronic hypoventilation related to weakness of respiratory musculature.12 Breathing exercises, postural drainage, or intermittent pressure breathing treatments should be included in the management program based on results of pulmonary evaluation and sleep studies that should be considered in the second decade of life.222 Specific tests of pulmonary function that document respiratory status include forced vital capacity (FVC = amount of air expired following a maximal inspiration) and peak expiratory flow rate (highest flow rate sustained for 10 ms during maximal expiration). BiPAP is recommended for nighttime use when indicated by sleep study.150,244 Assisted ventilation with tracheostomy or by mask or sip is recommended when respiratory insufficiency is present with abnormal blood gas levels during the day or night.244,271 In addition to breathing exercises and assisted coughing, the family and caregivers should be instructed in the technique of postural drainage. For additional details, the reader should refer to the American Thoracic Society consensus statement on the care of individuals with DMD or the report from the DMD working group.5,40,65

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Functional mobility and equipment By late adolescence assistance is required for transfers. The use of a hydraulic or other mechanical lift should be considered depending on the patient’s weight and the parent’s comfort. A divided leg sling with headrest extension, to allow it to be removed after the transfer, is indicated because head and trunk control are minimal at this stage of the disease. A power recline and tilt feature on the power wheelchair may be desirable, depending on accessibility and family choice, if funding is available. If not, a regular schedule for pressure relief through lateral weight shifting with assistance is needed. A properly fitted and well-tolerated cushion to avoid skin breakdown becomes an important area of intervention with loss of the ability to weight shift in the wheelchair. Skin breakdown is not a typical problem in DMD, but a cushion should be considered. A Jay Medical cushion (Jay Medical, Boulder, CO) is often well tolerated and provides a firm base of support to control pelvic obliquity, yet the gel inserts can be adjusted to allow for adequate pressure distribution. A customized insert will be needed if deformity becomes severe (e.g., severe scoliosis without surgical stabilization). If the firmer cushion is not tolerated well, then use of a Roho quatro cushion (The Roho Group, Belleville, IL) is recommended because it will allow for greater pressure relief. A ball bearing feeder may be considered to assist arm movement when progression of upper extremity weakness makes independent feeding difficult.50 The device can also be used to assist with general use of the arms in conjunction with activities at a table, such as when using a computer, or to maintain the ability to self-feed. Trial use of a mobile arm support is recommended, and a mobile arm support with elastic assist like the WREX (Wilmington Robotic Exoskeleton) could be considered. Coordination of planning with an occupational therapist to address feeding and dressing issues is needed to identify solutions to increased dependence in the areas of feeding, dressing, and hygiene. A power-controlled bed to allow elevation of the head for respiratory management should be considered. Use of a bed with elevating capability also allows for greater ease in transfers, and height adjustment promotes use of proper body mechanics by

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family members for activities that require assistance such as dressing; however, some insurance companies will view this as a convenience for the family and will not cover the cost. Mattress selection should also be reviewed with the family because an airflow mattress or memory foam mattress may be needed when increasing dependence for bed mobility is encountered. Use of a mattress with deep pressure relief may decrease the frequency of need for turning and repositioning at night. If sitting in a wheelchair is no longer tolerated in the later stages of the disease, which may occur if severe scoliosis and back pain are present, elevation of the head of the bed becomes beneficial for reading or watching television. An easel will be required for reading. To maintain independence in environmental access, consideration should be given to using environmental control devices. An environmental control unit included on the power wheelchair can be used to independently access lights, telephone, television, motors on doors, or a computer, to name just a few applications. Computer access for vocational applications such as word processing or avocational activities such as games is available.

Becker Muscular Dystrophy Background Information Becker muscular dystrophy (BMD), a more slowly progressive variant of DMD, has an incidence of about 1 in 20,000 births and a prevalence of 2 to 3 cases per 100,000 population.68 The impairments and participation restrictions of BMD closely resemble those of DMD; however, the progression is slower, with a longevity into the forties.70,91 The genetic defect for BMD is located on the same gene as that for DMD. Dystrophin is present in reduced amounts or inconsistently integrated into the muscle cell structure rather than completely absent as in DMD, which may explain the slower progression of clinical symptoms.146 Initial clinical symptoms typically are not identified in boys with BMD before late childhood or early adolescence except for families with a history of the disease. Emery and Skinner70 found the mean age at onset of symptoms to be 11 years, inability to walk at 27 years, and death at 42 years although this has changed with the

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increased use of steroids for muscle strength and medication for the associated cardiac comorbidities. The authors pointed out that the range of walking cessation is very wide, but by definition to be classified as having BMD one needs to continue independent bracefree ambulation beyond the 16th birthday. The impairments of BMD are the same as in DMD, although less severe, and initial clinical signs include gastrocsoleus contracture and proximal weakness in the mid to late teens. The exception is the increased presence of cardiac involvement in BMD that is not necessarily correlated with the degree of weakness. Dilated cardiac myopathy is more prevalent with BMD because of the longer life span, and routine cardiac screening is recommended.129 The pattern of weakness is the same as in DMD, and pseudohypertrophy of the calves may be present. The incidence of contracture, scoliosis, and other skeletal deformities is lower in BMD. Although not as severe as in DMD, hip, knee, and ankle plantar flexor muscle contractures can be present when walking is no longer possible. The use of night splints to maintain ankle dorsiflexion ROM is often indicated, along with a home program of posterior calf stretching. Significant disability may develop by the mid-20s in most individuals, although this is variable. As weakness progresses, the use of power mobility may be required. KAFOs can also be used to prolong walking; however, braced ambulation will not be functional for community access but rather as a means of exercise.

Foreground Information The general goals and management procedures for BMD are the same for as those for DMD, including the progression from walking to use of power mobility, although the predictive guidelines may differ because the rate of progression in BMD is slower. Although the precautions against eccentric exercise, excessive fatigue, and delayed-onset muscle soreness should be followed with BMD as with DMD, because of the milder phenotype of individuals with BMD, endurance training has been found to be beneficial.253 Sveen and colleagues reported on a cohort of 11 individuals with BMD who participated in a cycling program of 50 30-minute sessions at 65% of their maximal oxygen uptake level over 12 weeks. The group demonstrated 47% improvement in maximum oxygen

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uptake and an 80% increase in maximal workload with no evidence of increased serum creatine phosphokinase levels and no presence of necrotic or increased numbers of central nuclei on muscle biopsy. The exercise group also demonstrated a significant increase in strength in select lower extremity muscles. Sveen and colleagues also reported that endurance training may be beneficial for increasing strength in these individuals without leading to increased muscle damage; however, more research is needed to determine the most appropriate intensity of training.254 Transition planning following completion of school and assistance with living arrangements to accommodate the progressive nature of the disability into adulthood become major issues in this population. Longevity is commonly reported into the mid-40s, with complications from dilated cardiac myopathy being the limiting factor on longevity.58 Vocational or avocational choices should be made with the disease progression and disability level in mind. Vocational rehabilitation services should be initiated before completion of high school to allow adequate time for evaluation and transition plan development. Governmental support through Medicaid, Social Security, or other sources may be needed to offset expenses to allow for independent living and access to postsecondary education. Typically, both adaptive equipment and an attendant will be needed in addition to an environmental evaluation and modification. No data are available regarding the number of individuals who go to college or become employed following high school, but with the assistive technology available to promote independence, either option can be explored.

Congenital Muscular Dystrophy Background Information Congenital MD is a heterogeneous group of muscle disorders with onset in utero or during the first year of life that are characterized by delayed motor development and early onset of weakness.214 The mode of inheritance in congenital MD is reported as autosomal recessive.69,187 Although all forms are rare, the range of severity and disability varies significantly among types. Recent advances have led to the identification of several new genes associated with forms

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of congenital MD. A new classification system reports forms based on genetic, clinical, and pathologic characteristics along the spectrum of the disease. Reported forms of congenital MD include (1) defects of dystroglycan associated with central nervous system (CNS) disease (Fukuyama syndrome, Walker-Warburg disease, and muscle-eye-brain disease); (2) defects of structural proteins, including merosin-deficient congenital MD and collagenopathies (Ullrich MD Bethlem myopathy); (3) defects of the endoplasmic reticulum and nucleu (rigid spine syndrome); and (4) defects of the mitochondria merosin-deficient, Ullrich, and Fukuyama forms.169,174,242 The reader should refer to the review chapter by Sparks and Escolar for additional information.242 Other valuable resources for information are the Online Mendelian Inheritance of Man (OMIM) website of the National Center for Biotechnology (www.ncbi.nlm.nih.gov/omim) and GeneReviews (www.genereviews.org). Congenital MD with complete merosin deficiency (MDC1A) is the most common form, affecting approximately 30% to 40% of the children in European countries but is less reported in North America.242 Onset is at birth, and children never attain the ability to walk unsupported in contrast to children with partial merosin deficiency, for which onset is during the first decade and children typically are able to walk by the age of 2 to 3 years. Children with congenital MD typically have decreased respiratory function observed by the end of the first decade and often require overnight ventilator support. Feeding difficulties are also frequently reported. In children with merosin-absent or partial merosin-deficient MD, abnormalities on brain imaging are reported, but with infrequent reduction in IQ. Thirty percent are reported to develop epilepsy.113 Contractures and scoliosis are common, along with early breathing difficulties that may require assisted ventilation. Children with the merosin-deficient form of MD are reported to have cardiac involvement. In congenital MD with partial merosin deficiency, a delay in walking, with acquisition of walking ranging from 13 months to 6 years, is reported.193 Progressive contractures may be present, and in most cases of merosin-deficient congenital MD the child never attains the ability to walk independently. Twenty-five percent of children are

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reported to be able to walk with support. Longevity ranges from 15 to 30 years. Pegorago and associates208 reported on a cohort of 22 children with merosin-deficient congenital MD. All children demonstrated severe floppiness at birth, normal intelligence, and delay in achievement of motor milestones. Merosin-deficient congenital MD is due to a defect in the LAMA2 gene at chromosome 6q22. Muscle weakness and contractures are the primary impairment in merosin-deficient congenital MD, with scoliosis common in merosin-absent MD. Brain malformations can include cobblestone type II lissencephaly or polymicrogyria as pathologic features of the CNS portion of the disease. Weakness is more pronounced in proximal muscles. Feeding delays are common with lesser involvement of the bulbar muscular than is generally observed with weakness of the trunk and axial musculature, requiring a feeding program that should be coordinated with occupational therapy. Contractures must be managed aggressively with a home ROM program that includes manual stretching, positioning, and splinting. Although children with partial merosin-deficient MD can develop walking, ankle plantar flexion contractures that cannot be managed conservatively may require orthopedic intervention. Another more prevalent form of congenital MD is Ullrich MD, due to a collagen VI defect. It is characterized by hypotonia and weakness with distal joint hyperlaxity. Proximal joint contractures and skeletal abnormalities may also be observed. Hip dysplasia is seen in about 50% of cases. Delayed milestones can be the first symptom leading to diagnosis, and usually this clinically manifests around 12 months of age. Most patients achieve independent walking; however, this skill is often lost by the teen years. Children also develop respiratory insufficiency, often requiring the use of noninvasive ventilator support overnight. Characteristic facial features include rounded face, drooping of lower eyelids, and prominent ears. Intelligence is normal in these children, and longevity has been described well into adulthood. Early management of these children includes mobilization and maintenance of ROM. Gait is marked by crouch and progressive knee flexion contracture and/or ankle contractures. Standing frames, orthotics, and ambulatory aides may be prescribed. As

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contractures progress over time, surgical intervention may also be indicated. A milder phenotype is Bethlem myopathy. Mild weakness and laxity may be observed in childhood with contracture development at the end of the first decade. Weakness becomes more pronounced in the third and fourth decades and many require assistance to walk around the age of 60 years.30 In congenital MD with associated CNS disease (Fukuyama type), intellectual disabilities and seizures are common, along with moderate to severe weakness at birth and the presence of contractures.86 Magnetic resonance imaging reveals cerebral malformations and occasionally cobblestone type II lissencephaly as pathologic features of the CNS disease. Contractures typically involve the lower extremities (hips, knees, and ankles) and elbows. Other commonly reported dysmorphic features include torticollis, congenital dislocation of the hips, pectus excavatum, pes cavus, and kyphoscoliosis. Facial weakness and ptosis are common, and weakness of the extraocular muscles, optic atrophy, and nystagmus has also been reported.214 Children with this type of MD rarely attain the ability to walk; however, milder phenotypes have been identified and present as a limb girdle phenotype.69,98 The genetic defect is at chromosome 9q31-q33 with the missing protein fukutin.

Foreground Information The early management program in children with congenital MD with central nervous system disease should focus on family instruction, developmental activities to address delays in gross motor skill development, and aggressive management of contractures. Attention to positioning is necessary to guard against secondary deformity resulting from gravitational effects on the trunk with the presence of moderate to severe weakness. Early intervention by an occupational or speech therapist to address feeding and oral motor control issues is commonly coordinated with physical therapy to help with positioning the upper trunk and neck and adjusting the body position with respect to gravity to aid in oral motor control and optimize the chances of success. Impaired respiratory function and pulmonary complications are hallmark features of congenital MD. The family should be instructed in airway clearance techniques including percussion and postural

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drainage, and consultation with a respiratory therapist and pulmonologist may be needed on an ongoing basis. Because many children with congenital MD and associated nervous system disease do not attain walking, maximizing functional skills in sitting becomes a primary goal of the physical therapy management program as the child ages. Therapeutic exercise to improve head and trunk control should be aggressively addressed with use of adaptive equipment to slow the progression of spinal deformity and contractures and to maximize access to the environment. Because intellectual disabilities are common, power mobility may not be an option. Additional management issues for children with significant weakness are discussed later in the chapter in the section on acute SMA. Activity limitations, such as delayed acquisition of gross motor skills, should be managed with an understanding of the natural progression of the diagnosis because a slower rate of skill progression is expected. Because these children vary in their rate of motor skill development, information can be provided to the family concerning probable rates of motor skill acquisition, but unrealistic therapeutic expectations should be avoided. Because children with congenital MD have a wide range of functional deficits, care must be taken in predicting functional gross motor outcomes or level of participation at home and school.

Childhood-Onset Facioscapulohumeral Muscular Dystrophy Background Facioscapulohumeral MD is rare, with an incidence of 1 in 10,000 to 21,000, and typically demonstrates onset in adulthood.198 The disorder is inherited as autosomal dominant disorder that is unique in that it results from a contraction of a triple repeat found in the gene.227 In addition, there is a high rate of new mutation. The genetic defect is on chromosome 4q35 in the case of FSHD1, which accounts for 95% of cases with the remaining cases classified as FSHD2. The disorder affects males and females equally. Childhoodonset facioscapulohumeral MD typically results in the onset of clinical signs within the first 2 years but without significant

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impairment or disability until later in the first decade. Contractures are seldom a problem for mobility.

Foreground Infancy and Preschool-Age Period The impairment of muscle weakness about the face and shoulder girdle is typically the only prominent feature of the disease during the infant and preschool-age period. Parents report that the child may sleep with the eyes partially open, and on physical examination weakness of the facial musculature is predominant although from a functional mobility point of view the weakness of the trunk muscles, plantarflexors, and sometimes quadriceps can be the most impairing.10,218,219 Children frequently are unable to whistle, and drinking with a straw may be difficult due to the facial weakness. When asked to purse the lips together and puff the cheeks out, the child is unable to maintain the cheeks out when even the slightest pressure is applied. The child’s smile may also be masked because of the weakness, thereby hindering communication as a result of inconsistency between what is spoken and the affect displayed. Children with childhood-onset facioscapulohumeral MD typically develop independence in walking without significant delay. An excessive lordotic posture during walking is a classic clinical feature with progression of weakness, and the plantarflexor and quadriceps weakness often lead to hyperextension of the knee to maintain stability in stance. The scapulae are widely abducted and outwardly rotated, giving evidence of the degree of interscapular muscle weakness and winging that can be elicited by a number of maneuvers.132 School-Age Period Progressive activity limitations occur during the school-age period, with weakness becoming more generalized throughout the trunk, shoulder, and pelvic girdle musculature. Progression of childhoodonset facioscapulohumeral MD is more insidious than in the adult form, and independent walking may be lost by the end of the first decade.89

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Severe winging of the scapula, a hallmark feature of the adult form of the disease, becomes more prominent with age in activities such as reaching overhead. Management should focus on instruction to the child and family on activities to avoid that may cause fatigue, and endurance training should be considered for this population.36,125,196,272 As weakness of the hip and knee extensors progresses, the use of lightweight carbon fiber AFOs that resist dorsiflexion and stabilize the knee with a ground reaction force can be considered, and eventually KAFOs for assisted walking and transfers may be beneficial. When walking becomes increasingly difficult, power mobility using a scooter or power wheelchair should be considered because the degree of upper extremity weakness will not allow independence in propulsion of a manual wheelchair.

Transition to Adulthood No specific prognostic information on the longevity of individuals with childhood-onset facioscapulohumeral MD is available; therefore transition planning from the educational environment should be a goal of the therapy program, and standard of care documents and the available natural history experience should be considered to guide management.249,257 If severe weakness is present and significant assistance from the family is needed, individuals may not desire to plan for living outside the family home. If independent living is desired, coordination of planning with vocational rehabilitation services and an attendant may be necessary and accessibility issues will need to be evaluated. The wide variability of severity and pattern of weakness in this population even between family members needs to be considered in terms of the expected prognosis when planning for the future; however, progression over time in each individual is often uniform and slow with long periods of stability and most patients remain ambulatory.249 The reader is referred to an excellent review by Shree Pandya for an overview of the phenotypic presentation and functional considerations one must be aware of in this population.198

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Background Myotonic dystrophy is the most common adult-onset neuromuscular disease, with an incidence of 1 in 8000 births.109 Congenital myotonic dystrophy is rare and demonstrates severe clinical features of the adult-onset diagnosis (see OMIM, myotonic dystrophy type 1). Inheritance is reported as autosomal dominant with a genetic defect of chromosome 19q13.3 affecting males and females equally. A second form of myotonic dystrophy (myotonic dystrophy type 2) (proximal myotonic myopathy, or PROMM) has been reported and linked to chromosome 3q21.216 Children with congenital myotonic dystrophy are almost exclusively born to mothers with myotonic dystrophy who have the chromosome 19 defect. Approximately 25% of children born to mothers with myotonic dystrophy will have congenital myotonic dystrophy.26,109 Most children demonstrate severe weakness at birth; however, a few children have no significant motor impairments as infants and first show signs of intellectual disability only by age 5 years as the cognitive demands increase at school age. Because the children who initially have only intellectual impairment follow a progression of motor impairment similar to that of adult-onset myotonic dystrophy, the infant-onset form is the primary focus of discussion in this section of the chapter. Intellectual disability in congenital myotonic dystrophy is common, affecting 50% to 60% of the children. An average IQ of 74 is typically reported for children with cognitive impairment with verbal IQ higher than performance; however, like the motor phenotype there is wide variability among the population.62,223,243 No evidence of progressive deterioration of cognitive function has been found. A study by Rutherford and coworkers226 of 14 children provided prognostic information regarding survival and its relationship to mechanical ventilation at birth. In children with congenital myotonic dystrophy survival beyond the early weeks of life indicates a prognosis of steady improvement in motor function over the first decade, with most children developing independent walking after age 2.66,111,128,223 A follow-up study by O’Brien and Harper194 of 46 children reported only 4 children who died outside the neonatal period at ages 4, 18, 19, and 22 years. Four additional children demonstrated significant

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disability associated with a poor prognosis, and none was older than age 30 years. In a study of 115 children with congenital myotonic dystrophy, Reardon and colleagues213 reported that 25% of the children lived to age 18 months, and of those who survived infancy, 50% lived into their mid-30s. The use of noninvasive ventilation has improved this number significantly, but there may still be a 25% mortality rate in the first year.42 Severe weakness and partial paralysis of the diaphragm at birth are clinical features that often suggest the diagnosis of congenital myotonic dystrophy. Myotonia (delay in relaxation after muscular contraction) is a hallmark feature of myotonic dystrophy. Myotonia in congenital myotonic dystrophy typically is not considered to be a significant impairment or a cause of functional limitations in comparison with the degree of weakness that is present. The symptoms of myotonia, however, are increased with fatigue, cold, or stress. Typical facial features include a tented V-shaped upper lip. Facial movements are limited with a typical pattern of a myopathic face. Severe respiratory impairment is prominent in the newborn period, requiring resuscitation and assisted ventilation in the most severe cases. Cardiac involvement is common, and there have been reports of arrhythmias in up to 90% of patients with some requiring the insertion of pacemakers.26 It is recommended that cardiac consults be obtained for young adults who are engaging in sports activities.66 Talipes equinovarus contractures are reported in more than 50% of children, and a general arthrogrypotic pattern with contracture of more than one joint at birth occurring in less than 5%.109

Foreground Infancy Talipes equinovarus contractures should be aggressively managed in infancy with Ponseti casting and stretching exercise but may ultimately require surgical orthopedic intervention to facilitate optimal weight-bearing foot position for walking.213 Ankle-foot orthoses and/or night splints are indicated on the basis of individual needs to maintain correction. In addition to home instruction for ROM activities to manage contractures, the family

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should be provided with a general program of activities to promote gross motor skill development. Consultation with a respiratory therapist on pulmonary care will be needed until the infant is weaned from assisted ventilation. Feeding may require the use of a nasogastric tube during the newborn period or early infancy, and initiation of a feeding program should be coordinated with an occupational or speech therapist. A swallowing study may be indicated when the feeding program is initiated to evaluate potential for aspiration. If the newborn survives early respiratory difficulties, progressive improvement in pulmonary function is usually seen without the need for ongoing intervention.

School-Age Period Progressive improvement in gross motor skills can be expected if the child survives the newborn period. The degree of intellectual impairment becomes a major factor in the progression of milestone acquisition as the child ages. Children typically develop walking, but further activity limitations follow the clinical progression of adult-onset disease. In some cases, progressive weakness may occur in the second decade, leading to a loss of ambulation. However, it is most frequently reported that activity limitations remain steady and slight throughout childhood and later progress in the third or fourth decades of life.66 Patients present with the typical impairments of ligamentous laxity, generalized weakness, and a drop foot during the swing phase of gait that often will benefit from a lightweight AFO.109 Consultation for development of adaptive physical education participation will be needed during the school-age period. Other physical therapy–related activities will depend on the use of orthoses and the progression of gross motor skill development. Specific therapeutic exercise programs for ROM and strengthening have not been reported but may be indicated. Transition to Adulthood The natural progression of myotonic dystrophy is insidious weakness of the distal upper and lower extremity musculature and

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myotonia, leading to activity limitations and participation restrictions; however, in the moderately affected group the cognitive findings are often the most impactful as adolescents transition to adulthood. Children with congenital myotonic dystrophy will demonstrate progression in the disease as described for adults, but typically at an earlier stage. The severity of disease represents the full spectrum from adults with very mild impairments to infants with very severe disability.66 The reader should refer to references on adult myotonic dystrophy for further information on clinical course and management.109

Emery-Dreifuss Muscular Dystrophy Background The most common form of Emery-Dreifuss muscular dystrophy (EMD), known as XL-EMD or EDMD1, is inherited as an X-linked recessive disorder at gene locus Xq28 resulting in the absence of the protein emerin. Another identified form of EMD can also be inherited, but as either an autosomal dominant (AD-EMD) or recessive (AR-EMD) disorder with a defect on chromosome 1q21.2 and a defect of the protein lamin.29 The dominant form is more common, with the recessive form only reported in one case of a family with a severe phenotype. The clinical features of Emery-Dreifuss vary widely but consist of a pattern of contractures, slowly progressing muscle weakness, and cardiac disease.239 The clinical pictures of XL-EMD and AD-EMD are similar but have some differences. Typically, in XL-EMD joint contractures precede signs of weakness, whereas in AD-EMD there is pronounced muscle weakness prior to the development of contractures. Loss of ambulation can occur in AD-EMD but is not common in XL-EMD. The risk of cardiac involvement is also higher in XL-EMD. A very characteristic pattern of contractures includes contracture of the posterior neck and spinal extensors, elbow flexors, pectoral muscles, and ankle plantar flexors. A prominence of contracture over weakness in the presentation of the phenotype is common. A humeroperoneal pattern of muscle weakness is observed with usual onset in the teen years but ranges from neonatal to the third decade. Progression of weakness to the legs

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with a peroneal weakness pattern is reported with a drop foot in the swing phase of gait. Cardiac evaluation with Holter monitoring is advised to identify cardiac abnormalities, and pacemakers are often needed to control rhythm. Sudden death has been reported in persons ranging in age from 25 to 56 years211 in a large family cohort with bradyarrhythmias; all patients should be screened by Holter monitoring at diagnosis.

Foreground Physical therapy management is often focused on maintaining flexibility during the childhood period because contracture is the most common impairment. Independent walking is typically maintained into adulthood. A ROM program for contracture prevention is advised, and serial casting and orthopedic intervention are common to correct the posterior calf contractures.159

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Summary Muscle weakness and contracture are hallmark features of the childhood neuromuscular disorders. Background knowledge of therapeutic exercise, functional use of orthoses and adaptive equipment, and strategies to minimize disabilities secondary to the primary impairments in strength, endurance, muscle length, and cardiopulmonary function allow the physical therapist to bring unique information and skills to the management team. Many of the disorders significantly reduce longevity. Therefore the patient’s quality of life and attention to how the family copes with the stress should be included in the team’s intervention program. Providing the children and families with anticipatory guidance and support as well as realistic expectations is an important goal. Connection with support groups or contact with other families that have had a similar experience should be arranged with the help of social work and can often help the family work through crisis periods, particularly when extended family support is not available. Through the combined perspectives and innovative solutions of team members, a comprehensive program can be provided that takes into consideration the multifaceted demands of each individual and family. A philosophy of using a family-centered approach to care will help ensure that needs are met to the best of the team’s ability.

Case Scenarios on Expert Consult The case scenarios related to this chapter look at two patients. The first is “Donald,” and video examples of the issues demonstrated by Donald’s case are also included. The case presents Donald’s issues as the disease progresses over time from diagnosis to death. The case illustrates the role of the physical therapist as addressed in the chapter. The second case, “Derek,” is a child with a dystrophinopathy and focuses on management during early childhood.

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Acknowledgments Our personal thanks goes to the children and their families who contributed to our knowledge of MD and SMA. Special thanks to Donald and Derek and their families for sharing their stories. Support from the SMA Foundation to AG is acknowledged.

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Background Information Spinal Muscular Atrophy Classification of SMA into four groups is based on clinical presentation and progression (Table 12.2). Historically the four groups have been referred to in various ways. Type I can also be referred to as Werdnig-Hoffmann disease, type II as chronic SMA, type III as Kugelberg-Welander disease, and type IV as adult-onset SMA. This latter group frequently has a different genetic basis and overlaps with motor neuronopathies. These are also often classified with Charcot-Marie-Tooth disease and present with different phenotypic patterns and genetic causes and will not be discussed here. Standards of care have been developed, and as part of that effort we have included the most up-to-date rehabilitation literature available.182 The standard of care document that has been in place is currently in the process of being revised in light of advances that have occurred in the intervening years.173 Information regarding the functional status of children with SMA and the overall disease progression is now more readily available as the result of international collaborations that have allowed the collection of large data sets for this relatively rare disease.49,79,130,131 There is currently no cure, but various compounds have been evaluated in clinical trials with some limited success.135,203

Diagnosis and Pathophysiology SMA represents the second most common group of fatal recessive diseases after cystic fibrosis.157 The primary pathologic feature of SMA is loss of the anterior horn cells in the spinal cord. The diagnosis of SMA is often suspected based on clinical examination and laboratory procedures, including electromyography, muscle ultrasound, and muscle biopsy, and is ultimately confirmed by genetic testing.151 Electromyographic findings include decreased combined motor unit action potentials and spinal H reflexes, positive sharp waves, fibrillation potentials, and a decrease in the number of motor units by EMG estimation. Sensory and motor

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nerve conduction velocities are both normal. Muscle biopsy demonstrates changes that are typical of a disease involving denervation (i.e., large groups of atrophic fibers dispersed among groups of normal or hypertrophic fibers). TABLE 12.2 Classification of Spinal Muscle Atrophy

SMA is typically inherited as autosomal recessive with the genetic defect on chromosome 5q11.2-13.144,170,171,236 The gene for SMA, termed survival motor neuron (SMN1), is found on chromosome 5q13. An almost identical copy of SMN1, thought to be a paralog, is found just proximal to SMN1. This almost identical copy is termed SMN2. These two genes are responsible for the production of a protein bearing the same name.212,225 The SMN protein is involved in a number of basic cellular functions, including axonal transport and most notably the splicing of premRNA into mRNA. Ultimately, as the result of defective splicing of a number of lower motor neuron–specific genes, the anterior horn cell and the spinal reflex arc are impacted leading to apoptosis (programmed cell death).76 The primary modifying gene in SMA is SMN2. SMN2 produces a smaller amount of SMN and acts to modify the phenotype with more full-length protein being produced the more copies of SMN2 that are present. In addition to the SMN2 gene, there are other modifiers of the phenotype including plastin 3281 and another gene in a near locus that that codes for neuronal apoptosis inhibitory protein (NAIP), which is thought to play a role in SMA.59,221,264 The incidence of SMA as a whole is between 1 in 6000 and 1 in 10,000 live births.236 The majority of cases are children with SMA type I (60%) with type II accounting for about 27% of cases and SMA type III representing the smallest group.195,251 Classification of SMA is based on the highest level of functional ability achieved.63 Despite the classification into various types, SMA is now viewed more as a continuum of involvement. Here we will use this rubric

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because it helps to clarify management goals and guide intervention. Patients with genetically confirmed SMA can be classified into three categories based on the maximal motor skill achieved. Those with SMA type III have been able to ambulate without assistance or bracing at some point in their lives, patients with SMA type II have been able to sit independently at some point, and those with SMA type I have never been able to sit independently. SMA (type I) was first reported by Werdnig and Hoffmann in the late 1800s.117,278 A more slowly progressive form of SMA (type III) with onset usually between the ages of 2 and 9 years was reported by Kugelberg and Welander140 and also by Wohlfart and colleagues.282 Werdnig-Hoffmann disease and KugelbergWelander disease have therefore become the eponyms for infantileonset and juvenile-onset SMA; however, most authors prefer to use the numeric classification system as outlined in Table 12.2. No cure is available for SMA, but physical therapy is commonly advocated.159,276 Poor prognosticators for long-term survival include early age at onset, which is often noted as weak fetal movement or onset of weakness in the first months of life. More recent evidence has shown that children with SMA type I and severe onset of symptoms may survive up to their fifth birthday and beyond with proactive pulmonary management and noninvasive ventilation with two thirds surviving to 4 years of age and half to 10 years of age in some series; however, this is accompanied by severe physical impairment.31,197 The cranial nerves are occasionally involved in SMA type II. Contractures may be a presenting feature in the most severe forms of SMA that present at birth or in utero, with reports of talipes equinovarus or other intrauterine deformities secondary to limited fetal movement. Some authors will term this SMA type 0 referring the prenatal onset of symptoms.212,225

Spinal Muscular Atrophy (Type I) Background Impairments, Activity Limitations, and Participation Restrictions The primary impairment in all forms of SMA is muscle weakness

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secondary to progressive loss of anterior horn cells in the spinal cord. Weakness is particularly pronounced in the acute and chronic childhood forms (types I and II). Muscle fasciculations, including fasciculations of the tongue, are most commonly reported in children with SMA type I.159 Unlike the faces of children with myotonic dystrophy or facioscapulohumeral MD, children with SMA type I appear alert and responsive. Respiratory distress presents after limb weakness but is present early, and significant effort to augment breathing by the infant is typical with a paradoxical pattern characteristic of a reliance on the diaphragm and associated collapse of the thoracic cavity and expansion of the abdomen with each breath. Secondary impairments in SMA type I include the development of scoliosis and contractures. It is widely reported in the literature that all children with SMA develop scoliosis, and surgical intervention is an option depending on the aggressiveness that families choose for treatment.103,147 Other secondary impairments include decreased respiratory capacity and increased fatigability of muscle. Treatment should begin early with a focus on feeding, ROM, positioning, respiratory care, and selected developmental activities (Boxes 12.5 and 12.6). Range of motion should be monitored by goniometry, and muscle strength can be measured in the context of functional antigravity extremity movement and head control in various postures. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) can be used to monitor motor activity over time.93,94

B O X 1 2 . 5 Evidence-Based

Examinations for

Children With SMA Body Functions and Body Structures Goniometry Handheld myometry Manual muscle testing Quantitative muscle testing Pulmonary function testing

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Activity – Single Task 6-minute walk test Timed testing (time and grade) Timed up/down 4 steps Timed Gowers’ Timed 10-m run/walk

Activity – Multiple Items The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders –CHOP INTEND (type I) The Expanded Hammersmith Functional Motor Scale (type II or III) Revised Upper Limb Module for SMA Motor function measure

Participation – Multiple Items Pediatric Evaluation of Disability Index PEDS QL Health Utilities Index Questionnaire

Foreground Infancy In SMA type I, weak or absent fetal movement during the last months of pregnancy can be reported by the mother with some authors classifying this as SMA type 0. Significant weakness typically develops within the first 2 weeks to 4 months; this manifests as inability to perform antigravity movements with the pelvic more than shoulder girdle musculature and typical posturing in a gravity-dependent position (Fig. 12.7).

B O X 1 2 . 6 Evidence-Based

Interventions for

Children With SMA Body Functions and Body Structures Stretching

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Night splinting at end range Concentric endurance and strength training exercise Inspiratory muscle training with respiratory insufficiency Cough assist/BiPAP with respiratory insufficiency (per pulmonary) Percussion and postural drainage (with upper respiratory infection)

Activity Standing program with ischial weight-bearing KAFOs at cessation of ambulation or if nonambulatory Mobile arm support (or slings and springs) with feeding difficulty or for function/play

Participation Power mobility Environmental modification Ramps Bathroom adaptation or equipment Van with lift/tie down Assistive tech and switch toys Adapted gym/sport activity Respiratory care is one focus of the therapy program in acute childhood SMA. The aggressiveness of supportive care in this population is an individual choice. The medical team needs to discuss the options with the family related to the child’s therapy program as well as medical care and maintain an open dialogue about their expectations and choices regarding the aggressiveness of care in the context of a disease with a limited life expectancy.224 Children frequently require intubation in the context of intercurrent illness and then, when they are well, often can be weaned. However, for more chronic respiratory distress some will consider use of a tracheostomy, although use of noninvasive ventilatory support is frequently advocated to allow for the development of language skills.11,17 The use of ventilatory support with either tracheostomy or noninvasive mechanical ventilation has been shown to prolong survival in children with SMA type I.17 Coordination with nurses and respiratory therapists on a program

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that includes suctioning, mechanical cough assist, and percussion and postural drainage is necessary. The use of supported sitting should be closely monitored for spinal alignment and respiratory response because, as the children become weaker, sitting may be accompanied by respiratory decompensation. The proximal musculature of the neck, trunk, and pelvic and shoulder girdles demonstrates the greatest weakness. Limited antigravity movement of upper and lower extremity musculature is present, and a positioning program is necessary in the newborn period or at the onset of symptoms. Use of wedges should be considered to avoid supine positioning in the presence of reflux; however, respiratory distress can be an issue in the more advanced stages, and upright posture will be less well tolerated due to the effects of gravity on the diaphragm. If the supine position is used, rolled towels or bolsters are needed to keep the upper extremities positioned in midline and to prevent lower extremity abduction and external rotation. The sidelying position allows midline head and hand use for play without having to work against gravity. Prone positioning even on wedges should be limited or not used, owing to the effort required for head righting to interact with the environment and due to the inhibition of abdominal expansion and diaphragmatic depression thus limiting respiratory function.

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FIG. 12.7 Typical postures seen in a young child with

spinal muscular atrophy in supine (A), prone (B), and sitting (C) positions. Note the limited antigravity control and dependent posturing.

TABLE 12.3 Handheld Dynamometry Scores Recorded With a Standardized Protocol With Isometric Contraction

Head control fails to develop or is significantly impaired in those with SMA type I. Early developmental postures such as prone on elbows are not attained. The use of developmental exercise in type I SMA should be considered if the child tolerates and enjoys the activities. ROM exercises with proper positioning should be carried out to ensure maintenance of flexibility and comfort. Flexion contractures of the hips, knees, and elbows, hip abductors, ankle plantar flexors, and positional torticollis are deformities that can be minimized with a comprehensive ROM and positioning program.25 The exercise program should also include limited activities to encourage active movement and for strengthening, such as lightweight toys or rattles with Velcro straps around the wrists or mobiles positioned close to the hands for easy access. The use of slings and springs has also been advocated to counteract the impact of gravity and provide the child with the opportunity for movement with only slight movements of the body.71,72

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Developmental activities such as the use of supported sitting for the development of head control should be of short duration to avoid fatigue. In conjunction with an occupational or speech therapist, a feeding program that is safe and not excessively exhausting should be implemented, but the risk of aspiration needs to be closely monitored due to the rapidly changing status of these patients. The medical team should discuss the parents’ expectations regarding the aggressiveness of care. Once symptoms related to feeding are noted, more frequent feedings are necessary, and referral to a GI physician is often considered for a G-tube and Nissan fundoplication should the parents want this type of treatment. Breastfeeding may be difficult in this population due to the strength needed to develop sufficient suction.72 Special care with feeding is necessary to avoid aspiration and secondary respiratory problems. Death secondary to pneumonia or other respiratory complications is common in the absence of medical supportive care within a few months to few years of diagnosis in SMA type I owing to the degree of weakness and apnea.72 The mean age of death is widely variable depending on the aggressiveness of care but many children with aggressive care can live well into the first decade of life albeit with significant functional impairment.176,197 Counseling related to end-of-life issues and treatment choices as well as support for the parents and family is an extremely important component in the management of this condition, and often a hospice team will be involved in counseling the family alongside the neuromuscular team.

Spinal Muscular Atrophy (Type II) Background Impairments, Activity Limitations, and Participation Restrictions The onset of weakness in SMA type II usually appears within the first year, with the course of the disease somewhat variable. Muscle strength testing in children and adults with SMA type II has been evaluated using handheld dynamometry (Table 12.3),77 manual

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muscle testing,279 and qualitative muscle testing with a tensiometer.215 Forced vital capacity279 data are also available. Progressive loss of strength and pulmonary function have been consistently reported.274 However, the overall course of the disease can be stable over long periods of time with progression detectable over periods upwards of a year.131 The Hammersmith Functional Motor Scale for Children with SMA has also been developed by Marion Main at the Hammersmith in London as a specific functional skills rating tool for children with SMA type II. It has been expanded to allow evaluation of patients with SMA type III and is part of the SMA Functional Composite score, which includes evaluation of gross motor function, upper extremity function, and ambulatory ability.95,154,184 The functional composite could be used to monitor upper extremity and gross motor function or ambulation and muscle fatigue in response to a strength-based treatment approach or to monitor recovery following a hospitalization or surgery to determine when return to full baseline status is achieved. Contractures are frequently an impairment in SMA type II and often develop within the first decade of life. They frequently limit the ability to stand either in a stander or in KAFOs if the contracture becomes severe. The distribution of weakness is similar to SMA types I and III with primary proximal involvement. Weakness is usually greatest in the hip, knee extensors, and elbow extensors with the hamstrings, biceps, and hip adductors being relatively preserved. Involvement of the distal musculature appears later in the course of the disease and is less severe than the proximal involvement. Involvement of the cranial nerves has been reported but is not considered to be a typical feature of SMA. Fasciculations of the tongue have been reported in approximately one half of the children and can be seen by muscle ultrasound almost uniformly. Minimyoclonus (a fine tremor) of the hands is also often noted. Fatigue is a significant impairment for these patients, and endurance training has been shown to have an impact on oxidative capacity but with an increase in fatigue related to the training that can limit the application of an endurance exercise program.152

Foreground

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Infancy Because the clinical presentation and progression of SMA type II are somewhat variable, the management program must address the major impairments, activity limitations, and participation restrictions as they are manifested. Typically, presentation is during the second half of the first year of life with some of the children with mild SMA type II presenting after a year with delay in ambulation onset. Some children may develop the ability to stand but lose this ability quickly after the onset of weakness; a few are able to ambulate with KAFOs. Sitting posture is an area of primary concern in the management program for children who demonstrate significant weakness, and external head and trunk support in antigravity positions are sometimes required. A thoracolumbosacral orthosis (TLSO, or “body jacket”) for support in sitting can be used; however, this is not universally recommended due to the increased work of breathing required. It is important to make sure there is a generous abdominal cutout to allow abdominal expansion if one is prescribed. Developmental activities provided on an ongoing basis are indicated to develop gross motor skills. Therapy sessions should be monitored, and an awareness of fatigue and function following exercise is important. An ergometer can be considered, and swimming has been reported to be beneficial in maintaining muscle strength and functional skills.57 Instruction to the family in the use of adaptive equipment for proper positioning is crucial in slowing the deforming effects of gravity on the spine when the child is sitting or standing. Standing by the age of 12 to 18 months should be initiated prior to the onset of contractures. The adaptive equipment necessary for standing should be considered.100,197 Merlini favored the use of KAFOs with the proximal rim fitted in a similar way to a quadrilateral socket with ischial weight bearing. It should be aligned in enough dorsiflexion (or posted at the heel) to allow the weight line to fall toward the anterior portion of the base of support and posterior to the hip. With this type of bracing patients with a milder presentation of SMA type II will be able to take some steps while those with a more severe presentation will require either parapodiums or A-frame standers. The rate of fracture incidence in

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SMA has been reported to be increased and falls within a wide range. Weight bearing is an important modality to maintain bone stock in those who are not able to ambulate.19,85,238 A supine stander is recommended for children without adequate head control, and vertical standers or KAFOs as described above are appropriate for patients with better head and trunk control. Orthopedic consultation for a corset or TLSO (with abdominal cutout) should be considered for use in standing to maintain trunk alignment if the adaptive equipment does not provide adequate control.

Preschool-Age and School-Age Period In the toddler, orthotics for standing might also be considered (lightweight KAFOs); however, the progression of weakness and contracture may make walking an unrealistic goal. In a report of promotion of walking in 12 children with intermediate SMA or SMA type II (ages 13 months to 3 years), Granata and associates101 described success in attaining assisted ambulation, with 58% of the children using KAFOs. This has not been the experience of all investigators, but standing is nonetheless an important goal. Although only a small number of children were studied, these investigators also reported less severe scoliotic curves in the children who used the orthoses in comparison with a control group of children with SMA. If a walking program is initiated and successful, training in the parallel bars followed by use of a walker or other device to allow greater independence is desired. Close monitoring of safety with supported walking is necessary owing to the degree of weakness present and the potential for injury from a fall. The incidence of hip dislocation and contractures has also been reported as less when a supported walking program is used.102 Independence with mobility other than walking is a primary goal for the child with SMA type II who typically will not develop independence in walking.127 Because most power scooters do not provide adequate trunk support, use of a power wheelchair is indicated. Many children with SMA type II will become independent in a power wheelchair between 1 and 2 years of age and some of the stronger patients will be able to push a lightweight manual wheelchair (Fig. 12.8A) for short distances on tile floors.

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This is often not functional over the long term, however, and typically, a power wheelchair is needed also for longer distances (Fig. 12.8B). If a TLSO is not used to support the trunk, close attention to fit is needed with use of lateral trunk supports. Severe contractures as a result of prolonged sitting and progression of scoliosis are experienced in all children, necessitating implementation of a consistent ROM program.85 Surgical intervention for spinal stabilization is indicated if the curve progresses.2 A variety of internal fixation methods are available that will allow the thoracic cavity and trunk to grow yet stabilize the progression of the curve. Orthosis have not been shown to change the progression of the curve but have been helpful with sitting balance and comfort in sitting.212 Exercise in patients with SMA type II appears to be safe and from a practical point of view possible. There is some suggestion that endurance training can impact endurance capacity, but there is a risk of fatigue that might limit the acceptability of this to the patient, and there is limited data to suggest functional gains can be expected.106,145,152,181

Transition to Adulthood Survival into adulthood is typical in SMA type II and depends on aggressive respiratory management and the progression of muscle weakness and secondary deformities.99 Because of the significant degree of muscle weakness, assistance is typically required for transfers and ADLs. An attendant or family member is needed to provide assistance for general ADLs. Intelligence is rarely affected; therefore vocational goals in areas of interest should be explored through vocational rehabilitation services. An aggressive program of pulmonary care is required, including breathing exercises and percussion and postural drainage with illness. Forced vital capacity has been shown to decrease by about 1.1% per year, but mechanical ventilation is seldom needed.244 The ROM and bracing program should also be continued to control progression of the contractures with the goal of maintaining a pattern of stability over time with growth.

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FIG. 12.8 Child with SMA type II shown in a lightweight

manual wheelchair (A) and a power wheelchair (B).

Spinal Muscular Atrophy (Type III) Background SMA type III (Kugelberg-Welander disease) typically demonstrates symptoms of weakness shortly after the onset of ambulation. Barry Russman and others have divided this group into two categories: type IIIA (onset of weakness prior to 2 years of age) and type IIIB (onset of weakness after 2 years of age).225 Of the patients in the SMA type IIIA group, 50% retained the ability to walk past the age of 12; in the type IIIB group, 50% retained the ability to walk passed the 44th birthday. Fasciculations, most easily observed in the tongue, are noted in about half of the individuals, and minimyoclonus (a fine tremor) may be a primary impairment noted on examination, but it rarely interferes with function.61

Impairments, Activity Limitations, and Participation Restrictions In a study by Dorscher and colleagues61 reviewing the status of 31 patients with Kugelberg-Welander disease, or SMA type III,

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proximal lower extremity weakness was the most common impairment reported, but for these patients fatigue is also a significant functional impairment.181,182,185 Secondary impairments included postural compensations resulting from muscle weakness and contractures; in about half of patients, scoliosis develops later in the first or early in the second decade.250 An increased lumbar lordosis and compensated Trendelenburg gait pattern are common postural compensations for proximal muscle weakness of the lower extremities. Ankle plantar flexion contractures are occasionally reported but not with the frequency seen in DMD. In adolescents with type III SMA, the incidence of scoliosis and its severity are related to the degree of weakness and functional status.85 Individuals who maintain independent walking have a lower incidence of scoliosis and less severe curves if scoliosis develops.

Foreground School-Age Period The initial disability in SMA type III usually becomes apparent within the first decade and includes difficulty in arising from the floor, climbing stairs, and keeping up with peers during play. A compensated Trendelenburg or waddling gait, which becomes more pronounced with attempts at running, will also be observed. Upper extremity function is usually less prominent, and proximal upper extremity strength can be somewhat preserved.184 Walking can in some cases be maintained lifelong as the primary means of mobility. In those cases when weakness is noted before 2 years of age, however, a manual wheelchair or scooter may ultimately be required for mobility over long distances during the school-age period as their gait becomes more inconsistent and unsteady and falls increase.181,182,183,185,186 A significant percentage of these children will also lose ambulation through puberty. Management for the adolescent with SMA type III is consistent with the concepts previously presented in this chapter. ROM exercises should be prescribed as appropriate, and selected strengthening and or endurance exercises may be indicated to maintain functional skills. Adaptive equipment for mobility is indicated based on functional demands, and a power scooter for

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long-distance mobility or manual wheelchair may be needed in certain cases. If performance of ADLs becomes a problem, collaboration with an occupational therapist to address concerns may be needed.

Transition to Adulthood Difficulty in ADLs that require overhead lifting can be expected, and vocational activities that involve manual labor or long periods of standing are not recommended. Because the life span is not significantly shortened, vocational planning is needed. Adaptive equipment and environmental access requirements are dependent on functional needs that, unlike DMD, are more slowly progressive, leaving more time for appropriate planning. In milder cases these may not be required until later in adulthood.

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References

1. Amendt L.E, AuseEllias K.L, Eybers J.L, Wadsworth C.T, Nielsen D.H, Weinstein S.L. Vali and reliability testing of the scoliometer. Phys Ther. 1990;70:108–117. 2. Reference deleted in proofs. 3. Alemdaroğlu I, Karaduman A, Yilmaz O.T, Topaloğlu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2014;51(5):697–705. 4. American Physical Therapy Association. Physical therapist examination and evaluation: focus on tests and measures. Guide to physical therapist practice 3.0. Alexandria, VA: American Physical Therapy Association; 2014 Available at. http://guidetoptpractice.apta.org/content/1/SEC4.body. 5. American Thoracic Society Documents. Respiratory care of the patient with Duchenne muscular dystrophy. Am J Respir Crit Care Med. 2004;170:456–465. 6. Anderson J.L, Head S.I, Rae C, Morley J.W. Brian function in Duchenne muscular dystrophy. Brain. 2002;125:4–14. 7. Ansved T. Muscle training in muscular dystrophies. Acta Physiol Scand. 2001;171:359–366. 8. Ansved T. Muscular dystrophies: influence of physical conditioning on the disease evolution. Curr Opin Clin Nutr Metab Care. 2003;6:435–439. 9. Anziska Y, Inan S. Exercise in neuromuscular disease. Semin Neurol. 2014;34(5):542–556. 10. Aprile I, Padua L, Iosa M, Gilardi A, Bordieri C, Frusciante R, et al. Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment. Eur J Phys Rehabil Med. 2012;48(3):393–402. 11. Bach J.R. The use of mechanical ventilation is appropriate in

885

children with genetically proven spinal muscular atrophy type 1: the motion for. Paediatr Respir Rev. 2008;9:45–50. 12. Bach J.R, Chaudhry S.S. Standards of care in MDA clinics. Am J Phys Med Rehab. 2000;79:193–196. 13. Bach J.R, McKeon J. Orthopaedic surgery and rehabilitation for the prolongation of brace-free ambulation of patients with Duchenne muscular dystrophy. Am J Phys Med Rehab. 1991;70:323–331. 14. Reference deleted in proofs. 15. Bach J.R, Campagnolo D.I, Hoeman S. Life satisfaction of individuals with Duchenne muscular dystrophy using long-term mechanical ventilatory support. Am J Phys Med Rehab. 1991;70:129–135. 16. Bach J.R, O’Brien J, Krotenberg R, Alba A.S. Management of end stage respiratory failure in Duchenne muscular dystrophy. Muscle Nerve. 1987;10:177–182. 17. Bach J.R, Saltstein K, Sinquee D, Weaver B, Komaroff E. Longterm survival in Werdnig-Hoffmann disease. Am J Phys Med Rehab. 2007;86:339–345. 18. Bakker J.P, deGroot I.J, Beckerman H, deJong B.A, Lankhorst G.J. The effects of knee-ankle-foot orthoses in the treatment of Duchenne muscular dystrophy: review of the literature. Clin Rehabil. 2000;14:343–359. 19. Ballestrazzi A, Gnudi A, Magni E, Granata C. Osteopenia in spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:215–219. 20. Banerjee, Sharma U, Balasubramanian K, Kalaivani M, Kalra V, Jaganna of creatine monohydrate in improving cellular energetics and muscle strength in ambulatory Duchenne muscular dystrophy patients: a randomized, placebo-controlled 31P MRS study. Magn Reson Imaging. 2010;28(5):698–707. 21. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, McAdam

886

and neurobehavioral profile in boys with Duchenne muscular dystrophy. J Child Neurol. 2015;30(11):1472–1482. 22. Beenakker E.A, Fock J.M, Van Tol M.J, Maurits N.M, Koopman H.M, Brouwer O.F, Van der Hoeven J.H. Intermittent prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial. Arch Neurol. 2005;62:128–132. 23. Bianchi M.L, Mazzanti A, Galbiati E, Saraifoger S, Dubini A, Cornelio F mineral density and bone metabolism in Duchenne muscular dystrophy. Osteoporos Int. 2003;14:761–767. 24. Biggar W.D, Gingras M, Fehlings D.L, Harris V.A, Steele C.A. Deflazaco treatment of Duchenne muscular dystrophy. J Pediatr. 2001;138:45–50. 25. Binder H. New ideas in the rehabilitation of children with spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:117–128. 26. Bird T.D. Myotonic muscular dystrophy type 1. GeneReviews. 2015 Available at: URL. www.genereview.org. 27. Blake D.S, Weir A, Newey S.E, Davis K.E. Function and genetics of dystrophia and dystrophia related proteins in muscle. Phys Rev. 2002;82:291–329. 28. Bonifati M.D, Ruzza G, Bonometto P, Berardinelli A, Gorni K, Orcesi S, al. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve. 2000;23:1344–1347. 29. Bonne G, Quijano-Roy S. Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol. 2013;113:1367–1376. 30. Bönnemann C.G. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol. 2011;101:81–96. 31. Borkowska J, Rudhik-Schoneborn S, Hausmanowa-

887

Petrusewicz I, Zerre K. Early infantile form of spinal muscle atrophy. Folia Neuropathol. 2002;40:19–26. 32. Bowker J.H, Halpin P.J. Factors determining success in reambulation of the child with progressive muscular dystrophy. Orthop Clin North Am. 1978;9:431–436. 33. Reference deleted in proofs. 34. Brooke M.H, Fenichel G.M, Griggs R.C, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475–481. 35. Brooke M.H, Griggs R.C, Mendell J.R, et al. Clinical trial in Duchenne dystrophy: I. The design of the protocol. Muscle Nerve. 1981;4:186–197. 36. Brouwer O.F, Paderg G.W, Van Der Ploeg R.J.O, Ruys C.J.M, Brand R. The influence of handedness on the distribution of muscular weakness of the arm in facioscapulohumeral muscular dystrophy. Brain. 1992;115:1587–1598. 37. Brussock C.M, Haley S.M, Munsat T.L, Bernhardt D.B. Measurement of isometric force in children with and without Duchenne’s muscular dystrophy. Phys Ther. 1992;72:105–114. 38. Reference deleted in proofs. 39. Bushby K, Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig (Lond). 2011;1(9):1217–1235. 40. Bushby K, Finkel R, Birnkrant D.J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9:177–189. 41. Cambridge W, Drennan J.C. Scoliosis associated with Duchenne muscular dystrophy. J Pediatr Orthop. 1987;7:436– 440. 42. Campbell C, Sherlock R, Jacob P, Blayney M. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics. 2004;113(4):811–816. 43. Carter G.T, Abresch R.T, Fowler Jr. W.M. Adaptations to exercise training and contraction-induced muscle injury in

888

animal models of muscular dystrophy. Am J Phys Med Rehabil. 2002;81(Suppl 11):S151–S161. 44. Chakkalakal J.V, Thompson J, Parks R.J, Jasmin B.J. Molecular, cellular, and pharmacological therapies for Duchenne/Becker muscular dystrophies. FASEB J. 2005;19:880–891. 45.

Chamova T, Guergueltcheva V, Raycheva M, Todorov T, Genova J, Bich al. Association between loss of dp140 and cognitive impairment in Duchenne and Becker dystrophies. Balkan J Med Genet. 2013;16(1):21–30. 46.

Charash L.I, Lovelace R.E, Wolfe S.G, Kutscher A.H, Price D, Leach R, L in coping with progressive neuromuscular disease. Philadelphia: Charles Press Publishers; 1987. 47.

Cheuk D.K, Wong V, Wraige E, Baxter P, Cole A, N’Diaye T, Mayowe V for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2007;24 CD005375. 48.

Childers M.K, Okamura C.S, Bogan D.J, Bogan J.R, Petroski G.F, McDon contraction injury in dystrophic canine muscle. Arch Phys Med Rehabil. 2002;83(11):1572–1578. 49. Chung B.H, Wong V.C, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114:e548–e553. 50. Chyatte S.B, Long C, Vignos P.J. Balanced forearm orthosis in muscular dystrophy. Arch Phys Med Rehabil. 1965;46:633– 636. 51. Ciafaloni E, Fox D.J, Pandya S, Westfield C.P, Puzhankara S, Romitti P.A al. Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009;155:380–385. 52. Cohen E.J, Quarta E, Fulgenzi G, Minciacchi D. Acetylcholine,

889

GABA and neuronal networks: a working hypothesis for compensations in the dystrophic brain. Brain Res Bull. 2015;110:1–13. 53. Colbert A.P, Craig C. Scoliosis management in Duchenne muscular dystrophy: prospective study of modified Jewett hyperextension brace. Arch Phys Med Rehabil. 1987;68:302– 304. 54. Constantin B. Dystrophin complex functions as a scaffold for signalling proteins. Biochim Biophys Acta. 2014;1838(2) 635– 634>. 55. Coster W, Deeney T, Haltiwanger J, Haley S. School function assessment. San Antonio, TX: Therapy Skill Builders; 1998. 56. CourdierFruh I, Barman L, Briguet A, Meier T. Glucocorticoidmediated regulation of utrophin levels in human muscle fibers. Neuromuscul Disord. 2002;12(Suppl 1):S95–S104. 57. Cunha M.C, Oliveira A.S, Labronici R.H, Gabbai A.A. Spinal muscular atrophy type II and III: evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool. Arq Neuropsiquiatr. 1996;54:402–406. 58. Darras B.T, Korf B.R, Urion D.K. Dystrophinopathies, GeneReviews Available at: URL. www.genereviews.org. 59. Dastur R.S, Gaitonde P.S, Khadilkar S.V, Udani V.P, Nadkarni J.J. Corre between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients. Neurol India. 2006;54(3):255–259. 60. De Sanctis R, Pane M, Sivo S, et al. Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2015;1:14–18. 61. Dorscher P.T, Mehrsheed S, Mulder D.W, Litchy W.J, Ilstrup D.M. Woh Kugelberg-Welander syndrome: serum creatine kinase and functional outcome. Arch Phys Med Rehabil. 1991;72:587–591. 62. Douniol M, Jacquette A, Cohen D, Bodeau N, Rachidi L, Angeard N, et al. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child

890

Neurol. 2012;54(10):905–911. 63. Dubowitz V. The clinical picture of spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:13–19. 64. Reference deleted in proofs. 65. Eagle M, Baudouin S.V, Chandler C, Giddings D.R, Bullock R, Bushby K in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord. 2002;12:926–929. 66. Echenne B, Bassez G. Congenital and infantile myotonic dystrophy. Handb Clin Neurol. 2013;113:1387–1393. 67. Edwards R.H.T. Studies of muscular performance in normal and dystrophic subjects. Br Med Bull. 1980;36:159–164. 68. Emery A.E.H. Duchenne muscular dystrophy. Oxford: Oxford University Press; 1993. 69. Emery A.E.H. The muscular dystrophies. Lancet. 2002;359:687–695. 70. Emery A.E.H, Skinner R. Clinical studies in benign (Beckertype) X-linked muscular dystrophy. Clinic Genet. 1976;10:189–201. 71. Eng G.D. Therapy and rehabilitation of the floppy infant. R I Med J. 1989;72:367–370. 72. Eng G.D. Rehabilitation of the child with a severe form of spinal muscular atrophy (type I, infantile or WerdnigHoffman disease). In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:113–115. 73. Escolar D.M, Buyse G, Henricson E, et al. CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy. Ann Neurol. 2005;58:151– 155. 74. Estilow T, Glanzman A, Flickinger J, Powers K.M, Medne L, Tennekoon Wilmington robotic exoskeleton (WREX) improves upper extremity function in patients with Duchenne muscular

891

dystrophy. Poster presentation, MDA Scientific Conference. 2014. 75. Farini A, Razini P, Erratico S, Torrente Y, Meregalli M. Cell based therapy for Duchenne muscular dystrophy. J Cell Physiol. 2009;221:526–534. 76. Farrar M.A, Kiernan M.C. The genetics of spinal muscular atrophy: progress and challenges. Neurotherapeutics. 2015;12(2):290–302. 77. Febrer A, Rodriguez N, Alias L, Tizzano E. Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy. J Rehabil Med. 2010;42:228–231. 78. Finder JDA: Perspective on the 2004 American Thoracic Society statement, “respiratory care of the patient with Duchenne muscular dystrophy.”. Pediatrics. 2009;123(Suppl 4):S239–S241. 79. Finkel R.S, McDermott M.P, Kaufmann P, Darras B.T, Chung W.K, Spro al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–817. 80. Florence J.M, Pandya S, King W.M, Robinson J.D, Baty J, Miller J.P, et al. Intrarater reliability of manual muscle test (Medical Research Council Scale) grades in Duchenne’s muscular dystrophy. Phys Ther. 1992;72:115–122. 81. Forst J, Forst R. Surgical treatment of Duchenne muscular dystrophy patients in Germany: the present situation. Acta Myol. 2012;31(1):21–23. 82. Fowler W.M. Rehabilitation management of muscular dystrophy and related disorders: I. The role of exercise. Arch Phys Med Rehabil. 1982;63:208–210. 83. Fowler W.M, Gardner G.W. Quantitative strength measurements in muscular dystrophy. Arch Phys Med Rehabil. 1967;48:629–644. 84. Frinchi M, Macaluso F, Licciardi A, Perciavalle V, Coco M, Belluardo N al. Recovery of damaged skeletal muscle in mdx mice

892

through low-intensity endurance exercise. Int J Sports Med. 2014;35(1):19–27. 85.

Fujak A, Kopschina C, Forst R, Gras F, Mueller L.A, Forst J. Fractures in proximal spinal muscular atrophy. Arch Orthop Trauma Surg. 2010;130(6):775–780. 86. Fukuyama Y, Osaw M, Suzuki H. Congenital muscular dystrophy of the Fukuyama type: clinical, genetic and pathological considerations. Brain Dev. 1981;3:1–29. 87. Galasko C.S.B, Williamson J.B, Delany C.M. Lung function in Duchenne muscular dystrophy. Eur Spine J. 1995;4:263– 267. 88. Gardner-Medwin D. Controversies about Duchenne muscular dystrophy: II. Bracing for ambulation. Dev Med Child Neurol. 1979;21:659–662. 89. Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull. 1980;36:109–115. 90. Gibson D.A, Koreska J, Robertson D. The management of spinal deformity in Duchenne’s muscular dystrophy. Clin Orthop. 1978;9:437–450. 91. Gilroy J, Holliday P. Basic neurology. New York: Macmillan; 1982. 92. Glanzman A.M, Flickinger J.M, Dholakia K.H, Bönnemann C.G, Finkel casting for the management of ankle contracture in Duchenne muscular dystrophy. Pediatr Phys Ther. 2011;23(3):275–279. 93. Glanzman A.M, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda K al. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20(3):155–161. 94. Glanzman A.M, McDermott M.P, Montes J, et al. Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 2011;23(4):322–326. 95.

893

Glanzman A.M, O’Hagen J.M, McDermott M.P, Martens W.B, Flickinge al. Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy Muscle Study Group (MSG). validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III, J Child Neurol. 2011;26(12):1499–1507 PNCR. 96. Goemans N, Klingels K, van den Hauwe M, Boons S, Verstraete L, Peeters C, et al. Sixminute walk test: reference values and prediction equation in healthy boys aged 5 to 12 years. PLoS One. 2013;8(12):e84120. 97. Gordon B.S, Lowe D.A, Kostek M.C. Exercise increases utrophin protein expression in the mdx mouse model of Duchenne muscular dystrophy. Muscle Nerve. 2014;49(6):915–918. 98. Gordon E, Hoffman E.P, Pegoraro E. Congenital muscular dystrophy overview. GeneReviews. 2006 Available at: URL. www.genereviews.org. 99. Gormley M.C. Respiratory management of spinal muscular atrophy type 2. J Neurosci Nurs. 2014;46(6):E33–E41. 100. Granata C, Cornelio F, Bonfiglioli S, Mattutini P, Merlini L. Promotion of ambulation of patients with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses. Dev Med Child Neurol. 1987;29(2):221–224. 101. Granata C, Magni E, Sabattini L, Colombo C, Merlini L. Promotion of ambulation in intermediate spinal muscle atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:127–132. 102. Granata C, Marini M.L, Capelli T, Merlini L. Natural history of scoliosis in spinal muscular atrophy and results of orthopaedic treatment. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:153–164. 103.

894

Granata C, Merlini L, Magni E, Marini M.L, Stagni S.B. Spinal muscular atrophy: natural history and orthopaedic treatment of scoliosis. Spine. 1989;14:760–762. 104. Grange R.W, Call J.A. Recommendations to define exercise prescription for Duchenne muscular dystrophy. Exer Sport Sci Rev. 2007;35:12–17. 105. Griffet J, Decrocq L, Rauscent H, Richelme C, Fournier M. Lower extremity surgery in muscular dystrophy. Orthop Traumatol Surg Res. 2011;97(6):634–638. 106. Grondard C, Biondi O, Armand A.S, Lécolle S, Della Gaspera B, Pariset C, et al. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse. J Neurosci. 2005;25(33):7615–7622. 107. Haley S.M, Coster W.J, Ludlow L.H, Haltiwanger J.T. Pediatric Evaluation of Disability Inventory (PEDI): development, standardization and administration manual. Boston: New England Medical Center Hospital; 1992. 108. Reference deleted in proofs. 109. Harper P.S. ed 2. Myotonic dystrophy: major problems in neurology. vol. 21. Philadelphia: WB Saunders; 1989. 110. T1 Haumont, Rahman T, Sample W.,M, King M, Church C, Henley J, Ja robotic exoskeleton: a novel device to maintain arm improvement in muscular disease. J Pediatr Orthop. 2011;31(5):e44–e49. 111. Heckmatt J.Z, Dubowitz V, Hyde S.A. Prolongation of walking in Duchenne muscular dystrophy with lightweight orthoses: review of 57 cases. Dev Med Child Neurol. 1985;27:149–154. 112. Heller K.D, Forst R, Forst J, Hengstler K. Scoliosis in Duchenne muscular dystrophy. Prosthet Orthot Int. 1997;21:202–209. 113. Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. Congenita muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and

895

correlation of clinical findings to muscle immunohistochemistry. Eur J Paediatr. 1996;155:968–976. 114. Reference deleted in proofs. 115. Hoffman E.P, Reeves E, Damsker J, Nagaraju K, McCall J.M, Connor E.M approaches to corticosteroid treatment in Duchenne muscular dystrophy. Phys Med Rehabil Clin N Am. 2012;23(4):821–828. 116. Hoffman E.P, Brown R.H, Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919–928. 117. Hoffmann J. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiar Basis. Deutsche Zeitschrift fur Nervenheilkunde. 1893;3:427. 118. Holland A, Carberry S. Ohlendieck K1: proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. Curr Protein Pept Sci. 2013;8:680–697. 119. Hsu J.D, Quinlivan R. Scoliosis in Duchenne muscular dystrophy. Neuromuscul Disord. 2013;23(8):611–617. 120. Hsu J.D. Orthopedic approaches for the treatment of lower extremity contractures in the Duchenne muscular dystrophy patient in the United States and Canada. Semin Neurol. 1995;15:6–8. 121. Hu X, Blemker S.S. Musculoskeletal simulation can help explain selective muscle degeneration in Duchenne muscular dystrophy. Muscle Nerve. 2015;52(2):174–182. 122. Hyde S.A, Floytrup I, Glent S, Kroksmark A, Salling B. A randomized comparative study using two methods for controlling tendo Achilles contracture in Duchenne muscular dystrophy. Neuromuscul Disord. 2000;10:257–263. 123. Hyzewicz J, Tanihata J, Kuraoka M, Ito N, MiyagoeSuzuki Y, Takeda S. Low intensity training of mdx mice reduces carbonylation and increases expression levels of proteins involved in energy metabolism and muscle contraction. Free Radic Biol Med. 2015;82:122–136. 124. Jansen M, van Alfen N, Geurts A.C, de Groot I.J. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled

896

trial “no use is disuse.”. Neurorehabil Neural Repair. 2013;27(9):816–827. 125. Johnson E.W, Braddom R. Over-work weakness in facioscapulohumeral muscular dystrophy. Arch Phys Med Rehabil. 1971;52:333–336. 126. Jones K.J, North K.N. Recent advances in diagnosis of the childhood muscular dystrophies. J Paediatr Child Health. 1997;33:195–201. 127. Jones M.A, McEwen I.R, Hansen L. Use of power mobility for a young child with spinal muscular atrophy. Phys Ther. 2003;83:253–262. 128. Joseph J.T, Richards C.S, Anthony D.C, Upton M, PerezAtayde A.R, Greenstein P. Congenital myotonic dystrophy pathology and somatic mosaicism. Neurology. 1997;49:1457– 1460. 129. Kaspar R.W, Allen H.D, Montanaro F. Current understanding and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. J Am Acad Nurse Pract. 2009;21:241–249. 130. Kaufmann P, McDermott M.P, Darras B.T, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol. 2011;68(6):779–786. 131. Kaufmann P, McDermott M.P, Darras B.T, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889–1897. 132. Khadilkar S.V, Chaudhari C.R, Soni G, Bhutada A. Is pushing the wall, the best known method for scapular winging, really the best? A Comparative analysis of various methods in neuromuscular disorders. J Neurol Sci. 2015;351(1-2):179–183. 133. Reference deleted in proofs. 134. Kinali M, Main M, Eliahoo J, Messina S, Knight R.K, Lehovsky J, et al. Predictive factors for the development of scoliosis in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2007;11:160–166. 135.

897

Kissel J.T, Scott C.B, Reyna S.P, Crawford T.O, Simard L.R, Krosschell K al. Project Cure Spinal Muscular Atrophy Investigators’ Network. SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One. 2011;6(7):e21296. 136. Kley R.A, Tarnopolsky M.A, Vorgerd M. Creatine for treating muscle disorders. Cochrane Database Syst Rev. 2013;6. 137. Koenig M, Hoffmann E.P, Pertelson C.K. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in mouse and affected individuals. Cell. 1987;50:509–517. 138. Koessler W, Wanke T, Winkler G, Nader A, Toifl K, Kurz H, Zwick H. 2 years’ experience with inspiratory muscle training in patients with neuromuscular disorders. Chest. 2001;120:765– 769. 139. Kornegay J.N, Spurney C.F, Nghiem P.P, BrinkmeyerLangford C.L, Hoffman E.P, Nagaraju K. Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials. ILAR J. 2014;55(1):119– 149. 140. Kugelberg E, Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry. 1956;75:500. 141. Kunkel L.M, Monaco A.P, Middlesworth W, Ochs S.D, Latt S.A. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Nat Acad Sci USA. 1985;82:4778–4782. 142. Lebel D.E, Corston J.A, McAdam L.C, Biggar W.D, Alman B.A. Glucoco treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. J Bone Joint Surg Am. 2013;95(12):1057–1061. 143. Lee C.C, Pearlman J.A, Chamberlain J.S, Caskey C.T. Expression

898

of recombinant dystrophin and its localization to the cell membrane. Nature. 1991;349:334–336. 144. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165. 145.

Lewelt A, Krosschell K.J, Stoddard G.J, Weng C, Xue M, Marcus R.L, et al. Resistance strength training exercise in children with spinal muscular atrophy. Muscle Nerve. 2015;52(4):559–567. 146. LiechtiGallati S, Koenig M, Kunkel L.M, Frey D, Boltshauser E, Schneider V, et al. Molecular deletion patterns in Duchenne and Becker type muscular dystrophy. Human Genet. 1989;81:343–348. 147. Lonstein J.E. Management of spinal deformity in spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:165–173. 148. Louis M, Lebacq J, Poortmans J.R, BelpaireDethiou M.C, Devogelaer J, Van Hecke P, et al. Beneficial effects of creatine supplementation in dystrophic patients. Muscle Nerve. 2003;27:604–610. 149. Lue Y.J, Lin R.F, Chen S.S, Lu Y.M. Measurement of the functional status of patients with different types of muscular dystrophy. Kaohsiung J Med Sci. 2009;25:325–333. 150. Lyager S, Steffensen B, Juhl B. Indicators of need for mechanical ventilation in Duchenne muscular dystrophy and spinal muscular atrophy. Chest. 1995;108:779–785. 151. MacKenzie A.E, Jacob P, Surh L, Besner A. Genetic heterogeneity in spinal muscle atrophy: a linkage analysisbased assessment. Neurology. 1994;44:919–924. 152. Madsen K.L, Hansen R.S, Preisler N, Thøgersen F, Berthelsen M.P, Viss improves oxidative capacity, but not function in spinal muscular atrophy type III. Muscle Nerve. 2015;52(2):240–244. 153. Main M, Mercuri E, Haliloglu G, Baker R, Kinali M, Muntoni F. Serial

899

casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery? Neuromuscul Disord. 2007;17(3):227–230. 154. Main M, Kairon H, Mercuri E, Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol. 2003;7:155–159. 155. Manzur A.Y, Hyde S.A, Rodillo E, Heckmatt J.Z, Bentley G, Dubowitz V randomized controlled trial of early surgery in Duchenne muscular dystrophy. Neuromuscul Disord. 1992;2(5-6):379– 387. 156. Manzur A.Y, Kinali M, Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child. 2008;93:986–990. 157. Marchesi D, Arlet V, Stricker U, Aeibi M. Modification of the original Luque technique in the treatment of Duchenne’s neuromuscular scoliosis. J Pediatr Orthop. 1997;17:743–749. 158. Marshall J.L, Kwok Y, McMorran B.J, Baum L.G, CrosbieWatson R.H. The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophy. FEBS J. 2013;280(17):4210–4229. 159. Marshall C.R. Medical treatment of spinal muscular atrophy. In: Gamstorp I, Sarnat H.B, eds. Progressive spinal muscular atrophies: International Review of Child Neurology series. New York: Raven Press; 1984:163–171. 160. Matsumura T, Saito T, Fujimura H, Shinno S, Sakoda S. Lung inflation training using a positive end-expiratory pressure valve in neuromuscular disorders. Intern Med. 2012;51(7):711–716. 161. Mayer O.H, Finkel R.S, Rummey C, Benton M.J, Glanzman A.M, Flickin al. Characterization of pulmonary function in Duchenne muscular dystrophy. Pediatr Pulmonol. 2015;50(5):487–494. 162. Mazzone E, Martinelli D, Berardinelli A, et al. North Star

900

Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2010;20(11):712–716. 163. Mazzone E.S, Messina S, Vasco G, et al. Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord. 2009;19:458–461. 164. McDonald C.M, Abresch R.T, Carter G.T, Fowler Jr. W.M, Johnson E.R, of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74(Suppl 5):S70– S92. 165. McDonald C.M, Henricson E.K, Abresch R.T, Florence J, Eagle M, Gapp al. The 6-minute walk test and other clinical endpoints in Duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve. 2013;48(3):357–368. 166. McDonald C.M, Henricson E.K, Abresch R.T, Florence J.M, Eagle M, Ga al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013;48(3):343–356. 167. McDonald C.M, Abresch R.T, Carter G.T, Fowler W.M, Johnson E.R, Kil of neuromuscular diseases: Duchenne muscular dystrophy. Am J Phys Med Rehab. 1995;74(Suppl):S70–S92. 168. McDonald D.G, Kinali M, Gallagher A.C, Mercuri E, Muntoni F, Roper al. Fracture prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol. 2002;44:695–698. 169. McMillan H.J. Congenital muscular dystrophies: new evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders. Muscle Nerve. 2015;51(6):791–792. 170. Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, et al. De novo and inherited deletions of the 5q13 region in

901

spinal muscular atrophies. Science. 1994;264(5164):1474– 1477. 171.

Melki J, Sheth P, Abdelhak S, Burlet P, Bachelot M.F, Lathrop M.G, et al. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators. Lancet. 1990;336(8710):271–273. 172. Mendell J.R, Rodino-Klapac L.R, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol. 2013;74(5):637–647. 173. Mercuri E, Bertini E, Iannaccone S.T. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11(5):443–452. 174. Mercuri E, Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012;72(1):9– 17. 175. Merlini L, Cicognani A, Malaspina E, Gennari M, Gnudi S, Talim B, Fra prednisone treatment in Duchenne muscular dystrophy. Muscle Nerve. 2003;27:222–227. 176. Merlini L, Granata C, Capelli T, Mattutini P, Colombo C. Natural history of infantile and childhood spinal muscular atrophy. In: Merlini L, Granata C, Dubowitz V, eds. Current concepts in childhood spinal muscular atrophy. New York: Springer-Verlag; 1989:95–100. 177. Miller F, Moseley C.F, Koreska J. Spinal fusion in Duchenne muscular dystrophy. Dev Med Child Neurol. 1992;34:775–786. 178. Miller G, Dunn N. An outline of the management and prognosis of Duchenne muscular dystrophy in Western Australia. Aust Pediatr J. 1982;82:277–282. 179. Mills B, Bach J.R, Zhao C, Saporito L, Sabharwal S. Posterior spinal fusion in children with flaccid neuromuscular scoliosis: the role of noninvasive positive pressure ventilatory support. J Pediatr Orthop. 2013;33(5):488–493. 180. Molnar G.E, Alexander J. Objective, quantitative muscle testing in children: a pilot study. Arch Phys Med Rehabil. 1973;54:224–228.

902

181.

Montes J, Blumenschine M, Dunaway S, Alter A.S, Engelstad K, Rao A.K al. Weakness and fatigue in diverse neuromuscular diseases. J Child Neurol. 2013;28(10):1277–1283. 182. Montes J, Dunaway S, Garber C.E, Chiriboga C.A, De Vivo D.C, Rao A.K. Leg muscle function and fatigue during walking in spinal muscular atrophy type 3. Muscle Nerve. 2014;50(1):34–39. 183. Montes J, Dunaway S, Montgomery M.J, Sproule D, Kaufmann P, De Vivo D.C, Rao A.K. Fatigue leads to gait changes in spinal muscular atrophy. Muscle Nerve. 2011;43(4):485–488. 184. Montes J, Glanzman A.M, Mazzone E.S, et al. SMA functional composite score: a functional measure in spinal muscular atrophy. Muscle Nerve. 2015;52(6):942–947. 185. Montes J, McDermott M.P, Martens W.B, et al. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74(10):833–838. 186. Montes J, McIsaac T.L, Dunaway S, KamilRosenberg S, Sproule D, Garber C.E, et al. Falls and spinal muscular atrophy: exploring cause and prevention. Muscle Nerve. 2013;47(1):118–123. 187. Muscular Dystrophy Association. Facts about muscular dystrophy. Tucson, AZ: Muscular Dystrophy Association; 2010. 188. Muscular Dystrophy Association. Learning to live with neuromuscular disease Available at: URL. http://www.mda.org/sites/default/files/publications/Learning_to_ 195.pdf. 189. Nair K.P, Vasanth A, GourieDevi M, Taly A.B, Rao S, Gayathri N, Murali T. Disabilities in children with Duchenne muscular dystrophy: a profile. J Rehabil Med. 2001;33:147–149. 190. Nelson M.D, Rader F, Tang X, et al. PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology. 2014;82(23):2085–2091. 191. Nelson S.F, Crosbie R.H, Miceli M.C, Spencer M.J. Emerging

903

genetic therapies to treat Duchenne muscular dystrophy. Curr Opin Neurol. 2009;22:532–538. 192. Reference deleted in proofs. 193. North K.N, Specht L.A, Sethi R.K, Shapiro F, Beggs A.H. Congenital muscular dystrophy associated with merosin deficiency. J Child Neurol. 1996;11:291–295. 194. O’Brien T, Harper P.S. Course, prognosis and complications of childhood-onset myotonic dystrophy. Dev Med Child Neurol. 1984;26:62–67. 195. Ogino, Wilson R.B, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and metaanalysis for allele and haplotype frequency calculations. Eur J Hum Genet. 2004;12(12):1015–1023. 196. Olsen D.B, Orngreen M.C, Vissing J. Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology. 2005;64:1064–1066. 197. Oskoui M, Levy G, Garland C.J, Gray J.M, O’Hagen J, De Vivo D.C, Kaufmann P. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69(20):1931–1936. 198. Pandya S, King W.M, Tawil R. Facioscapulohumeral dystrophy. Phys Ther. 2008;88(1):105–113. 199. Pandya A, Florence J.M, King W.M, Robinson J.D, Oxman M, Province of goniometric measurements in patients with Duchenne muscular dystrophy. Phys Ther. 1985;65:1339–1342. 200. Pane M, Mazzone E.S, Fanelli L, et al. Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. Neuromuscul Disord. 2014;24(3):201– 206. 201. Pane M, Mazzone E.S, Sivo S, et al. Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. PLoS One. 2014;9(10):e108205. 202. Pane M, Mazzone E.S, Sivo S, et al. The 6 minute walk test and performance of upper limb in ambulant Duchenne muscular dystrophy boys. PLoS

904

Curr. 2014;6 doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6f ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. 203. Pane M, Staccioli S, Messina S, et al. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord. 2008;18(7):536–540. 204. Reference deleted in proofs. 205. Reference deleted in proofs. 206. Reference deleted in proofs. 207. Reference deleted in proofs. 208. Pegoraro E, Marks H, Garcia C.A, Crawford T, Connolly A.M. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology. 1998;51:101–110. 209. Perkins K.J, Davies K.E. The role of utrophin in the potential therapy of Duchenne muscular dystrophy. Neuromuscul Disord. 2002;12:S78–S89. 210. Petrof B.J. Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am J Phys Med Rehab. 2002;81:S162–S174 2002. 211. Pinelli G, Dominici P, Merlini L, DiPasquale G, Granata C, Bonfiglioli S. evaluation in a family with Emery-Dreifus muscular dystrophy. G Ital Cardiol. 1987;17:589–593. 212. Prior T.W, Russman B.S. Spinal muscular atrophy. GeneReviews. 2013 Available at: URL. www.genereviews.org. 213. Reardon W, Newcombe R, Fenton I, Sibert J, Harper P.S. The natural history of congenital myotonic muscular dystrophy: mortality and long term clinical aspects. Arch Dis Child. 1993;68:177–181. 214. Reed U.C. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq NeuroPsiquiatr. 2009;67:144–168. 215. Rhodes L.E, Freeman B.K, Auh S, Kokkinis A.D, La Pean A, Chen C, et al. Clinical features of spinal and bulbar muscular atrophy. Brain. 2009;132:3242–3251. 216. Ricker K. The expanding clinical and genetic spectrum of

905

the myotonic dystrophies. Acta Neurol Belg. 2000;100:151– 155. 217. Rideau Y, Glorion B, Delaubier A, Tarle O, Bach J. The treatment of scoliosis in Duchenne muscular dystrophy. Muscle Nerve. 1984;7:281–286. 218. Rijken N.H, van Engelen B.G, de Rooy J.W, Geurts A.C, Weerdesteyn V. Trunk muscle involvement is most critical for the loss of balance control in patients with facioscapulohumeral muscular dystrophy. Clin Biomech (Bristol, Avon). 2014;29(8):855–860. 219. Rijken N.H, van Engelen B.G, de Rooy J.W, Weerdesteyn V, Geurts A.C. Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. Gait Posture. 2015;41(2):476– 481. 220. Ringel S.P. Neuromuscular disorders: a guide for patient and family. New York: Raven Press; 1987. 221. Robinson A. Programmed cell death and the gene behind spinal muscle atrophy. Can Med Assoc J. 1995;153:1459–1462. 222. Rodillo E, NobleJamieson C.M, Aber V, Heckmatt J.Z, Muntoni F, Dubowitz V. Respirat muscle training in Duchenne muscular dystrophy. Arch Dis Child. 1989;64:736–738. 223. Roig M, Balliu P.R, Navarro C, Brugera R, Losada M. Presentation, clinical course and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol. 1994;11:208–213. 224. Roper H, Quinlivan R. Workshop participants. Implementation of “the consensus statement for the standard of care in spinal muscular atrophy” when applied to infants with severe type 1 SMA in the UK. Arch Dis Child. 2010;95(10):845–849. 225. Russman, Buncher C.R, White M, Samaha F.J, Iannaccone S.T. Function changes in spinal muscular atrophy II and III. The DCN/SMA Group. Neurology. 1996;47(4):973–976. 226. Rutherford M.A, Heckmatt J.Z, Dubowitz V. Congenital myotonic dystrophy: respiratory function at birth

906

determines survival. Arch Dis Child. 1989;64:191–195. 227. Sacconi S, Salviati L, Desnuelle C. Facioscapulohumeral muscular dystrophy. Biochim Biophys Acta. 2015;1852(4):607– 614. 228. Saranti A.J, Gleim G.W, Melvin M. The relationship between subjective and objective measurements of strength. J Orthop Sports Phys Ther. 1980;2:15–19. 229. Sato Y, Yamauchi A, Urano M, Kondo E, Saito K. Corticosteroid therapy for Duchenne muscular dystrophy: improvement of psychomotor function. Pediatr Neurol. 2014;50(1):31–37. 230. Scher D.M, Mubarak S.J. Surgical prevention of foot deformity in patients with Duchenne muscular dystrophy. J Pediatr Orthop. 2002;22:348–391. 231. Scott O.M, Hyde S.A, Goddard E. Quantification of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve. 1982;5:291–301. 232. Scott O.M, Hyde S.A, Goddard C, Dubowitz V. Prevention of deformity in Duchenne muscular dystrophy: a prospective study of passive stretching and splintage. Physiotherapy. 1981;67:177–180. 233. Reference deleted in proofs. 234. Seeger B.R, Caudrey D.J, Little J.D. Progression of equinus deformity in Duchenne muscular dystrophy. Arch Phys Med Rehabil. 1985;66:286–288. 235. Seeger B.R, Sutherland A.D, Clark M.S. Orthotic management of scoliosis in Duchenne muscular dystrophy. Arch Phys Med Rehabil. 1984;65:83–86. 236. Semprini L, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli C single strand conformation polymorphism-based carrier test for spinal muscle atrophy. Genet Test. 2001;5:33–37. 237. Sengupta S.K, Mehdian S.H, McConnell J.R, Eisenstein S.M, Webb J.K. P or lumbar fixation for the surgical management of scoliosis in Duchenne muscular dystrophy. Spine. 2002;27:2072–2079. 238. Shanmugarajan S, Swoboda K.J, Iannaccone S.T, Ries W.L, Maria B.L, R

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bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. J Child Neurol. 2007;22(8):967–973. 239. Shapiro F, Specht L. Orthopaedic deformities in EmeryDreifus muscular dystrophy. J Pediatr Orthop. 1991;11:336– 340. 240. Siegel I.M. The management of muscular dystrophy: a clinical review. Muscle Nerve. 1978;1:453–460. 241. Siegel I.M. Muscle and its diseases: an outline primer of basic science and clinical method. Chicago: Year Book Medical Publishers; 1986. 242. Sparks S.E, Escolar D.M. Congenital muscular dystrophies. Handb Clin Neurol. 2011;101:47–79. 243. Spranger M, Spranger S, Tischendorf M, Meinck H.M, Cremer M. Myot dystrophy: the role of large triplet repeat length in the development of mental retardation. Arch Neurol. 1997;54:251–254. 244. Steffensen B.F, Lyager S, Werge B, Rahbek J, Mattsson E. Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study. Dev Med Child Neurol. 2002;44:623–632. 245. Steffensen B, Hyde S. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy. Physiother Res Int. 2001;6:119–134. 246. Reference deleted in proofs. 247. Stuberg W.A. Home accessibility and adaptive equipment in Duchenne muscular dystrophy: a case report. Pediatr Phys Ther. 2001;13:169–174. 248. Stuberg W.A, Metcalf W.M. Reliability of quantitative muscle testing in healthy children and in children with Duchenne muscular dystrophy using a hand-held dynamometer. Phys Ther. 1988;68:977–982. 249. Stübgen J.P, Stipp A. Facioscapulohumeral muscular dystrophy: a prospective study of weakness and functional impairment. J Neurol. 2010;257(9):1457–1464. 250. Sucato D.J. Spine deformity in spinal muscular atrophy. J

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Bone Joint Surg Am. 2007;89(Suppl 1):148–154. 251. Sugarman E.A, Nagan N, Zhu H, Akmaev V.R, Zhou Z, Rohlfs E.M, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet. 2012;20(1):27–32. 252. Suk K.S, Lee B.H, Lee H.M, Moon S.H, Choi Y.C, Shin D.E, et al. Functional outcomes in Duchenne muscular dystrophy scoliosis: comparison of the differences between surgical and nonsurgical treatment. J Bone Joint Surg Am. 2014;96(5):409–415. 253.

Sveen M.L, Jeppesen T.D, Hauerslev S, Køber L, Krag T.O, Vissing J. En training improves fitness and strength in patients with Becker muscular dystrophy. Brain. 2008;131:2824–2831. 254.

Sveen M.L, Andersen S.P, Ingelsrud L.H, Blichter S, Olsen N.E, Jønck S, al. Resistance training in patients with limb-girdle and Becker muscular dystrophies. Muscle Nerve. 2013;47(2):163– 169. 255. Swinyard C.A, Deaver G.G, Greenspan L. Gradients of functional ability of importance in rehabilitation of patients with progressive muscular and neuromuscular diseases. Arch Phys Med Rehabil. 1957;38:574–579. 256. Taktak D.M, Bowker P. Lightweight, modular knee-anklefoot-orthosis for Duchenne muscular dystrophy: design, development, and evaluation. Arch Phys Med Rehabil. 1995;76:1156–1262. 257. Tawil R, van der Maarel S, Padberg G.W, van Engelen B.G. 171st ENMC international workshop: standards of care and management of facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2010;20(7):471– 475. 258. Tedesco F.S, Dellavalle A, DiazManera J, Messina G, Cossu G. Repairing skeletal muscle: regenerative potential of skeletal muscle stem cells. J Clin Invest. 2010;120:11–19.

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259.

Theadom A, Rodrigues M, Roxburgh R, Balalla S, Higgins C, Bhattacha al. Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology. 2014;43:259–268. 260.

Tinsley J.M, Fairclough R.J, Storer R, Wilkes F.J, Potter A.C, Squire S.E, al. Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS One. 2011;6(5). 261. Topin N, Matecki S, Le Bris S, Rivier F, Echenne B, Prefaut C, Ramonatxo M. Dosedependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophy. Neuromuscul Disord. 2002;12(6):576–583. 262. Reference deleted in proofs. 263. Townsend E.L, Tamhane H, Gross K.D. Effects of AFO use on walking in boys with Duchenne muscular dystrophy: a pilot study. Pediatr Phys Ther. 2015;27(1):24–29. 264. Tran VK, Sasongko T.H, Hong D.D, Hoan N.T, Dung V.C, Lee M.J, Gun al. SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy. Pediatr Int. 2008;50(3):346– 351. 265. Reference deleted in proofs. 266. Vignos P.J. Physical models of rehabilitation in neuromuscular disease. Muscle Nerve. 1983;6:323–338. 267. Vignos P.J, Archibald K.C. Maintenance of ambulation in childhood muscular dystrophy. J Chron Dis. 1960;12:273– 290. 268. Vignos P.J, Watkins M.P. The effect of exercise in muscular dystrophy. JAMA. 1966;197:121–126. 269. Vignos P.J, Spencer G.E, Archibald K.C. Management of progressive muscular dystrophy. JAMA. 1963;184:103–112. 270. Vignos P.J, Wagner M.B, Karlinchak B, Katirji B. Evaluation of a program for long-term treatment of Duchenne muscular dystrophy. J Bone Joint Surg Am. 1996;78:1844– 1852. 271. Villanova M, Brancalion B, Mehta A.D. Duchenne muscular

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dystrophy: life prolongation by noninvasive ventilatory support. Am J Phys Med Rehabil. 2014;93(7):595–599. 272. Voet N, Bleijenberg G, Hendriks J, de Groot I, Padberg G, van Engelen B, Geurts A. Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT. Neurology. 2014;83(21):1914–1922. 273. Reference deleted in proofs. 274. Wang H.Y, Yang Y.H, Jong Y.J. Correlations between change scores of measures for muscle strength and motor function in individuals with spinal muscular atrophy types 2 and 3. Am J Phys Med Rehabil. 2013;92(4):335–342. 275. Reference deleted in proofs. 276. Watt J.M, Greenhill B. Commentary: rehabilitation and orthopaedic management of spinal muscle atrophy. In: Gamstorp I, Sarnat H.B, eds. Progressive spinal muscular atrophies: International Review of Child Neurology series. New York: Raven Press; 1984. 277. Weidner N.J. Developing an interdisciplinary palliative care plan for the patient with muscular dystrophy. Pediatr Ann. 2005;34:546–552. 278. Werdnig G. Eine fruhinfantile progressive spinale Amyotrophie. Arch Psychiatrie Nervenkrank. 1894;26:706–744. 279. Werlauff U, Steffensen B.F, Bertelsen S, Fløytrup I, Kristensen B, Werge characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients. Neuromuscul Disord. 2010;20:34–43. 280. Reference deleted in proofs. 281. Wirth B, Garbes L, Riessland M. How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr Opin Genet Dev. 2013;23(3):330–338. 282. Wohlfart G, Fex J, Eliasson S. Hereditary proximal spinal muscular atrophy: a clinical entity simulating progressive muscular dystrophy. Acta Psychiatrica Neurol Scand. 1955;30:395–406. 283. Wong C.K, Wade C.K. Reducing iliotibial band contractures in patients with muscular dystrophy using custom dry

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floatation cushions. Arch Phys Med Rehabil. 1995;76:695–700. 284. Wong L.Y, Christopher C. Corticosteroids in Duchenne muscular dystrophy: a reappraisal. J Child Neurol. 2002;17:184–190. 285. Young H.K, Barton B.A, Waisbren S, Portales Dale L, Ryan M.M, et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol. 2009;23:155–162. 286. Ziter F.A, Allsop K.G. The diagnosis and management of childhood muscular dystrophy. Clin Pediatr. 1976;15:540– 548.

Suggested Readings Al-Zaidy S, Rodino-Klapac L, Mendell J.R. Gene therapy for muscular dystrophy: moving the field forward. Pediatr Neurol. 2014;51(5):607–618. Angelini C. Neuromuscular disease: diagnosis and discovery in limb-girdle muscular dystrophy. Nat Rev Neurol. 2016;12(1):6–8. Brandsema J.F, Darras B.T. Dystrophinopathies. Semin Neurol. 2015;35(4):369– 384. Bushby K, Finkel R, Birnkrant D.J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93. Bushby K, Finkel R, Birnkrant D.J, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010;9(2):177–189. Donkervoort S, Bonnemann C.G, Loeys B, Jungbluth H, Voermans N.C. The neuromuscular differential diagnosis of joint hypermobility. Am J Med Genet C Semin Med Genet. 2015;169C(1):23–42. Dubowitz V. The muscular dystrophies, Postgrad. Med J. 1992;68:500–506. Finkel R.S, McDermott M.P, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–817. Kang P.B, Morrison L, Iannaccone S.T, et al. Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular Electrodiagnostic Medicine: evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel

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of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015;84(13):1369–1378. Kaufmann P, McDermott M.P, Darras B.T, et al. Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR): prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889–1897. Montes J, Dunaway S, Garber C.E, Chiriboga C.A, De Vivo D.C, Rao A.K. Leg muscle function and fatigue during walking in spinal muscular atrophy type 3. Muscle Nerve. 2014;50(1):34–39. Wang C.H, Finkel R.S, Bertini E.S, et al. Participants of the International Conference on SMA Standard of Care. J Child Neurol. 2007;22(8):1027– 1049. Wang C.H, Dowling J.J, North K, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27(3):363–382.

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Limb Deficiencies and Amputations Meg Stanger, Colleen Coulter, and Brian Giavedoni

The child with an amputation is defined as a person with an amputation who is skeletally immature because the epiphyses of the long bones are still open.1 Amputations can be classified as congenital or acquired. Many different factors must be considered in the management of children with a limb deficiency or amputation. These factors differ from those involved in the management of adults with a limb deficiency or amputation because as children grow their musculoskeletal systems continue to develop. Children also are emotionally immature and variably dependent on adults for care and decision making regarding surgical and prosthetic issues. In this chapter the causes of limb deficiencies and amputations in children, surgical management, physical therapy intervention relative to a child’s age and developmental function, and pediatric prosthetic options are discussed. Emphasis is on the aspects of management that differ from those encountered by adults with amputations. The role of the physical therapist includes education of parents of infants and children with limb deficiencies, development and progression of postoperative exercise programs, training in mobility and self-care skills, and providing input to both parents and the child or adolescent regarding prosthetic options. Studies have shown that children with limb deficiencies who

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participated in extensive rehabilitation programs have vocational skills with high employment potential.92

Background information Congenital Limb Deficiencies Classification Various classification systems of congenital limb deficiencies have been developed. Greek terminology has been used to describe various deficiencies but is often inaccurate and ambiguous.17 Frantz and O’Rahilly25 developed a classification system based on embryologic considerations and the absent skeletal portions. Swanson and colleagues91 modified that system with a classification system of seven categories based on embryologic failure: (1) Failure of formation of parts (arrest of development), (2) failure of differentiation (separation of parts), (3) duplication, (4) overgrowth, (5) undergrowth (hypoplasia), (6) congenital constriction band syndrome, and (7) generalized skeletal deformities. The International Society for Prosthetics and Orthotics (ISPO) and the International Federation of Societies on Surgeries of the Hand (IFSSH) made additional modifications to this classification system in 1973 and 1989. The classification developed by the ISPO and IFSSH has been published as an international standard, International Standards Organization (ISO) 8548-1:1989, “Method of Describing Limb Deficiencies Present at Birth.”17 The ISO classification of congenital limb deficiency is restricted to skeletal deficiencies described on anatomic and radiologic bases only; Greek terminology, such as hemimelia and phocomelia is avoided because of its lack of precision and difficulty of translation into languages that are not related to Greek.17 Deficiencies are described as transverse or longitudinal. In transverse deficiencies the limb has developed normally to a particular level beyond which no skeletal elements exist, although digital buds may be present. A transverse deficiency is described by naming the segment in which the limb terminates and then describing the level within the segment beyond which no skeletal elements exist17 (Fig. 13.1). In longitudinal deficiencies reduction or absence of an element or

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elements occurs within the long axis of a limb. Normal skeletal elements may be present, distal to the affected bones. A longitudinal deficiency is described by naming the bones affected in a proximal-to-distal sequence and stating whether each affected bone is totally or partially absent17 (Fig. 13.2). One of the purposes of an international classification system is to provide a common language for accuracy when reporting statistics and research. However, because the ISO system does not specifically characterize common clinical manifestations of limb deficiencies, other terminology persists, such as proximal femoral focal deficiency or fibular deficiency. Additional classifications have been proposed to further define this broad spectrum of limb deficiencies. The additional classifications may be etiologically, radiologically, anatomically, or functionally based and are often developed to guide medical interventions and decision making. Basic knowledge of the various classification systems is important because much of the literature published prior to 1989 will often use the older classification systems.

Origin To fully understand the causes of congenital limb deficiencies, a basic knowledge of embryonic skeletal development is necessary. Limb buds first appear at the end of the fourth week of embryonic development, arising from mesenchymal tissue. During the next 3 weeks the limb buds grow and differentiate into identifiable limb segments. Development of limb buds occurs in a proximodistal sequence, with upper limb development preceding lower limb development by several days. The mesenchymal tissue undergoes chondrification to become cartilaginous models of individual bones. By the end of the seventh week, a recognizable embryonic skeleton is present. The entire process of limb development is very complex and involves precise timing of events as well as the interaction of genetics and molecular control from signaling centers in the developing limb.82,84 Causative factors for congenital limb deficiencies include genetic, vascular, teratogenic, and amniotic bands, but for many children, the exact cause is unknown. A genetic link may be associated with a few limb anomalies, but most limb deficiencies are the result of

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sporadic genetic mutation.46 Limb deficiencies, especially of the upper extremity, may be associated with other congenital anomalies such as Holt-Oram, Fanconi, Poland, thrombocytopeniaabsent radius, and VATER syndromes. Several teratogenic factors (e.g., medications such as thalidomide and misoprostol, irradiation) have been indicated as possible causative factors for congenital limb deficiencies but account for only 4% of cases in a study conducted by McGuirk.60 McGuirk60 reported that the cause of congenital limb deficiencies was vascular disruption in 34% of cases and unknown in 32% of cases. A study by Robitaille et al. found that low maternal intake of riboflavin was associated with transverse limb deficiencies.80 Teratogenic and vascular disruption factors must be present at some time between the third and seventh weeks of embryonic development to produce a limb deficiency.

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FIG. 13.1 Examples of transverse deficiencies at

various levels of the upper extremity. (From Day HJ: The ISO/ISPO classification of congenital limb deficiency. In Bowker JH, Michael JW, editors: Atlas of limb prosthetics: surgical, prosthetic, and rehabilitation principles. 2nd ed. St. Louis, Mosby-Year Book, 1992.)

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FIG. 13.2 Example of a longitudinal deficiency of the

lower extremity. (From Day HJ: The ISO/ISPO classification of congenital limb deficiency. In Bowker JH, Michael JW, editors: Atlas of limb prosthetics: Surgical, prosthetic, and rehabilitation principles. 2nd ed. St Louis: Mosby-Year Book; 1992. p 748)

Levels of Limb Deficiency The incidence of congenital limb deficiencies ranges from 2 to 7 per

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10,000 live births and has been relatively unchanged over time.21 The US Centers for Disease Control reports an incidence of 6 in 10,000 live births per year with limb deficiencies of the upper extremity occurring twice as frequently as those involving the lower extremity.14 The clinical presentation of a child with a congenital limb deficiency depends on the type, level, and number of deficiencies. Almost any combination or variety of limb deficiency is possible. However, some are more common, and these are discussed in this chapter in detail. Approximately 20% of children present with limb deficiencies affecting more than one limb18 (Fig. 13.3). Longitudinal deficiencies occur more frequently than transverse deficiencies with no strong difference between leftand right-sided prevalence.7,35 Many transverse deficiencies proximal to the wrist and ankle are unilateral and frequently include rudimentary vestiges called nubbins (Fig. 13.4).

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FIG. 13.3 Child with multiple congenital limb

deficiencies, including bilateral transverse upper arm deficiency and bilateral proximal femoral focal deficiency.

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FIG. 13.4 Child with congenital transverse upper limb

difference. (From Le JT, Scott-Wyard PR: Pediatric limb differences and amputations. Phys Med Rehabil Clin N Am 2015 Feb;26[1]:95-108.)

A complex lower extremity longitudinal limb deficiency has been termed proximal femoral focal deficiency (PFFD). Aitken2 first described this deficiency, which includes absence or hypoplasia of the proximal femur with varying degrees of involvement of the acetabulum, femoral head, patella, tibia, and fibula. The deficiency may be unilateral or bilateral. If the deficiency is unilateral, the contralateral limb often exhibits subtle deficiencies such as hypoplasia of the femur that may not be initially recognized. Aitken described four classes of severity—A through D—with class A exhibiting the least involvement based on radiographic findings (Fig. 13.5). Gillespie32 has developed a classification system for PFFD based on the complexity of medical intervention. Children

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classified into group A may require only limb lengthening, and those in groups B and C may require some level of amputation or surgical revision and prosthetic fitting. The clinical manifestations of a child with PFFD are relatively consistent. They include a shortened thigh that is held in flexion, abduction, and external rotation; hip and knee flexion contracture; and severe leg length discrepancy, with the foot often at the level of the opposite knee. These children also have instability of the knee joint secondary to absent or deficient cruciate ligaments and a 70% to 80% incidence of total longitudinal deficiency of the fibula. Fifteen percent of children with PFFD have bilateral involvement.62 The incidence of PFFD is reported to be 1 per 50,000 live births and it is usually of unknown origin.62

Acquired Amputations Acquired amputations most frequently occur as the result of trauma or disease, with trauma being twice as common as diseaserelated factors.55 Disease-related factors are most frequently tumors but also include infections and vascular malformations. Ninety percent of acquired amputations involve only one limb, and the lower extremity is involved in 60% of cases.19

Traumatic Amputations Males, especially in the adolescent age ranges, account for a larger percentage of traumatic amputations in children.48,56 Accidents involving farm machinery and household power tools are the leading cause of acquired amputations in the pediatric population, followed closely by vehicular accidents, gunshot wounds, and railroad accidents.56 Incidences vary according to age and geographic location. When amputations of the digits are included in the data, the highest incidence of amputations is seen in the fingers of children younger than 2 years of age secondary to closing a door on the child’s finger.48 Vehicular accidents, farm machinery, gunshot wounds, and trains are more common causes of traumatic amputations in the older child.56 Loder documented a seasonal trend with childhood amputations that could influence

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community prevention and education programs. It is no surprise that most traumatic amputations occur in the summer, with lawn mower injuries peaking in June, motor vehicle accidents in July, and farm machinery accidents in September.56

Disease-Related Amputations Sarcoma of Bone Primary bone tumors are rare in children, accounting for only 6% of cancers in children younger than 20 years of age. Osteosarcoma and Ewing’s sarcoma are the most common of the primary bone tumors, with an annual incidence in the United States of 8.7 per million children younger than 20 years of age.13

Osteosarcoma Osteosarcoma is a primary malignant tumor of bone derived from bone-forming mesenchyme in which the malignant proliferating spindle cell stroma produces osteoid tissue or immature bone. The peak incidence of osteosarcoma coincides with the pubertal growth spurt, and it occurs most frequently at the metaphyseal portion of the most rapidly growing bones in adolescence. As a result, the distal femur, proximal tibia, and proximal humerus are the most common sites for osteosarcoma. This finding supports the theory that these rapidly growing cells are susceptible to oncogenic agents or mitotic errors and that osteosarcoma is the result of an aberration of the normal process of bone growth and bone turnover.37

Ewing’s Sarcoma Family of Tumors The Ewing’s sarcoma family of tumors (ESFT) includes a spectrum of neuroepithelial tumors ranging from the undifferentiated round cell tumor of Ewing’s sarcoma of bone (ES) to the neural differentiated peripheral primitive neuroectodermal tumor (PNET). Ewing’s tumors often involve both bone and soft tissue by the time of diagnosis, including infiltration into the medullary cavity and bone marrow. The most common primary sites are the flat bones of the pelvis and chest and the long bones of the lower extremities. Ewing’s sarcoma is also seen during times of peak growth rates

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with the highest number seen in the second decade of life. 43

Diagnosis The initial complaint for both osteosarcoma and Ewing’s sarcoma is pain at the site of the tumor with or without a palpable mass. Localized swelling or the complaint of a palpable mass is seen with both osteosarcoma and Ewing’s sarcoma. Systemic symptoms are rare in osteosarcoma unless widespread metastatic disease is present. On the other hand, systemic symptoms, most commonly fever and weight loss, are complaints with large Ewing’s tumors.44 Because the initial complaint for both osteosarcoma and Ewing’s sarcoma is pain at the site of the tumor, diagnosis is often delayed. Children presenting to a physical therapist with a complaint of pain that is often chronic, a negative history of injury, and no evidence of musculoskeletal abnormalities should be referred for further medical workup to rule out a malignant bone tumor.

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FIG. 13.5 Aitken classification of proximal femoral focal

deficiency. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia: Saunders; 2014, Elsevier.)

The key to diagnosis of a bone tumor is radiologic evaluation. Plain-view radiographs will reveal evidence of a mass and bony destruction; however, a definitive diagnosis is made through biopsy and histologic examination. The extent of the tumor is more precisely defined through magnetic resonance imaging. To complete the workup, a radionuclide bone scan and chest computed tomography are performed to determine the extent of metastasis.41

Medical Management of Malignancies Medical intervention for children with sarcomas typically includes

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a multimodality approach with chemotherapy to eradicate systemic disease and surgery and/or radiation therapy to control local disease. Medical management of bony tumors and neoplasms is based on the following goals: (1) complete and permanent control of the primary tumor, (2) control and prevention of microstatic and metastatic disease, and (3) preservation of function to the greatest degree possible. Local control of the primary tumor is most often achieved through surgery and radiation therapy. Surgical options include amputation, limb-sparing procedures, and rotationplasty. Control of microstatic and metastatic disease is achieved through radiation therapy and chemotherapy. Surgical options and use of radiation therapy are based on the type of tumor, location and extent of the tumor, age of the child, and child and family beliefs and their activities. See Chapter 16 for more information.

Radiation Therapy Osteosarcoma is generally unresponsive to radiation therapy and is typically used only if adequate surgical margins were unable to be achieved. Ewing’s sarcoma is highly responsive to radiation therapy; consequently, it has been utilized for local control of the tumor. However, improvement with surgical techniques and recognition of the long-term effects of radiation therapy has decreased the use of radiation therapy in pediatrics. As with osteosarcoma, radiation therapy is utilized for Ewing’s sarcoma when full resection of the tumor is not a reasonable option.41 The side effects of radiation therapy are related to tumor location, dose rate and duration, age of the patient, and use of chemotherapy. Acute side effects are seen in rapidly dividing tissues such as the skin, bone marrow, and gut. Common side effects are red and tender skin, mouth sores from irradiation to mucous membranes, and nausea and vomiting from irradiation to the abdomen.53 Children receiving radiation therapy may exhibit a decreased activity level secondary to nausea and vomiting, poor appetite secondary to mouth sores, and generalized malaise. Their physical therapy sessions may need to be altered on a daily basis to accommodate their changing energy levels. Children wearing prostheses must be monitored closely for skin irritation and breakdown.

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Late side effects of radiation include fibrosis of soft tissues, bony changes ranging from osteoporosis to fractures, and growth disturbances, including damage to the epiphyseal plate and bowing of the metaphysis. Butler and colleagues12 reported that 77% of patients with Ewing’s sarcoma who received radiation therapy developed a leg length discrepancy; in 58% of these patients, the leg length discrepancy was significant enough to require treatment. Advances in surgical options have minimized the need for radiation therapy at the site of the primary tumor. If radiation therapy is indicated, attempts are made to shield the epiphyseal plate at the opposite end of the involved bone to minimize radiation-linked growth retardation and still allow for some growth of the extremity. For some young children an amputation may produce a more functional extremity than an extremity that is significantly shortened as a result of radiation therapy.

Chemotherapy Chemotherapy is administered according to several principles, including the use of multiple drug combinations, administration of chemotherapy agents at maximally tolerated doses, and administration before the development of detectable micrometastatic disease (adjuvant chemotherapy). Most chemotherapy agents interfere with the function of DNA and RNA. However, these agents are nonselective and cause damage to both malignant and normal cells, resulting in undesirable and at times toxic side effects.86 Physical therapists working with children receiving chemotherapy should know the specific agents being used with the child and the side effects. Typical side effects of chemotherapy can include nausea and vomiting, hair loss, diarrhea, and constipation. Other potential side effects consist of bloodrelated concerns such as anemia, neutropenia, and thrombocytopenia or neurologic issues such as peripheral neuropathies. The physical therapy interventions may need to be altered or limited depending on the child’s status and development of potentially serious side effects. The introduction of adjuvant chemotherapy, given preoperatively and postsurgically, in the 1970s and early 1980s increased the survival rates for both osteosarcoma and Ewing’s

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sarcoma. Survival rates are dependent upon age, location of the tumor, and the presence and location of metastatic disease at the time of diagnosis. Three-year event-free survival (EFS) rates for children with Ewing’s sarcoma treated with a combination of radiation therapy, chemotherapy, and surgery have improved to 65% to 70% for patients with nonmetastatic disease.39 Overall 5-year event-free survival rates for children with osteosarcoma treated with a combination of surgery and chemotherapy also drastically improved from 20% in the 1970s to 65% to 70%. Children with nonmetastatic osteosarcoma of the extremity are more likely to have a favorable outcome than children with more proximal tumors and the presence of metastatic disease.36 However, the survival rates for both Ewing’s sarcoma and osteosarcoma are relatively unchanged since the mid-1980s.28

Surgical Options in the Management of Acquired and Congenital Limb Deficiencies The goal of any surgical intervention is to improve the function of the child and, in the case of bone sarcoma, to not alter the child’s chance of survival. Traditionally, amputation has been the typical approach for children with bone sarcoma. It has also been used to modify the lower extremities of children with congenital limb deficiencies for improved prosthetic fit and function. However, with improved survival rates of children with bone tumors, the long-term function and comfort of the child must also be considered. Limb-sparing procedures, including rotationplasty, are viable options for many children with congenital limb deficiencies and for those previously considered to be candidates for amputation secondary to a bone tumor. Each of these procedures offers advantages and disadvantages, and functional outcome, psychological impact, and long-term survival all must be considered in the surgical decision. This section discusses the surgical options of amputation, rotationplasty, and various limbsparing procedures for children with congenital limb deficiencies, as well as those with a diagnosis of bone sarcoma.

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Amputation as a General Surgical Option Although most of the basic premises related to management of adults with amputations also apply to children, important differences may be noted. First, skeletal immaturity and future growth are important factors when surgical alternatives are considered. Physes should be preserved whenever possible to ensure continued growth of the limb. For the upper extremity, most growth occurs in physes around the shoulder and wrist, whereas in the lower extremity the physes around the knee account for most of the growth.45 If an amputation will result in a significantly short residual limb, a limb-sparing procedure may offer better function and improved cosmesis for the child. Second, the fact that amputation through long bones may result in terminal overgrowth is an important point that should not be overlooked. Terminal or bony overgrowth is a painful, spikelike prominence of new growth on the transected end of the residual limb. Significant pain can interfere with weight bearing and wearing of the prosthesis. The spikelike growth is not well understood but is seen more frequently in children under the age of 12 years.85 Terminal overgrowth can occur in any long bone but is most frequently in the tibia. Bone capping consists of excision of the overgrowth spike and fixation of a graft on the end of the residual limb in an attempt to prevent future terminal overgrowth. Multiple surgical revisions to remove an overgrowth spike may result in a shorter residual limb. Surgical options include revisions and bone capping. Surgical revision and bone capping with biologic materials result in frequent complications including high recurrence rates for revision and infection with biologic capping materials. More recently, surgeons have been utilizing autologous caps, specifically the proximal fibula, with promising results of decreased rates of infection and recurrence of the bony overgrowth.23 An amputation through a joint such as a knee disarticulation eliminates the possibility of bony overgrowth. As in adults, length of the lever arm, function of the extremity, and prosthetic fit remain important considerations when deciding on the level of amputation. Saving the child’s life is, of course, the most important consideration, whether the amputation is the result of a malignancy or trauma. Finally, wound healing in children is rarely a concern as it may

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be in adults with peripheral vascular disease. Skin grafts therefore may be used to close the amputation site in preference to performing a higher-level amputation for a child with a traumatic injury.

Amputation to Revise Congenital Limb Deficiencies to Improve Function Amputation and surgical reconstruction are rarely necessary with upper extremity limb deficiencies but may be indicated for some children with lower extremity limb deficiencies. Children with bilateral PFFD and equal leg lengths, however, may be more functional without any surgery. They will be of short stature but will walk quite well.62 For cosmesis or to equalize leg lengths and stability in standing and walking, an extension prosthesis may be an option for some children with bilateral PFFD. The surgical treatment of a child with unilateral PFFD is casespecific. If the child has a stable hip and foot and a significant portion of normal femur is present, one of the limb-lengthening procedures may be appropriate. Most surgeons agree that 60% of predicted femoral length must be present for a lengthening procedure to be a viable alternative.31,46 If limb lengthening is not an option, surgical options for PFFD include femoral osteotomy, a knee arthrodesis, and foot amputation or a rotationplasty. Usually the Syme or Boyd amputation of the foot is recommended. A Syme amputation involves complete removal of the foot, including the calcaneus, but the Boyd amputation preserves the calcaneus. The Boyd procedure requires an arthrodesis of the calcaneus and the tibia, which adds length to the limb.62 The knee is usually fused to form one long bone for fitting of an above-knee prosthesis46,62 (Fig. 13.6). Amputation may also be an option for a child with a longitudinal tibial or fibular total deficiency in which a significant limb length difference exists along with deformity of the foot. Frequently, the foot is positioned in equinovarus with a tibial deficiency or equinovalgus with a fibular deficiency, and both may include absent rays. If the tibia is completely absent, a knee disarticulation and fitting with a prosthesis will provide a very functional lower

931

extremity for the child. If the leg length difference is too significant for limb-lengthening techniques or epiphysiodesis of the uninvolved leg, or if the ankle is significantly unstable, a Syme or Boyd amputation may lead to a more functional lower extremity with the addition of a prosthesis for a child with partial absence of the fibula. When an amputation is being considered for a child, it is important that alternatives are discussed with the family and child and that the ultimate lifestyle goals are known.

Amputation in the Management of Traumatic Injuries and Malignant Tumors Amputations secondary to trauma may result in a short residual limb if the child has significant growth remaining. This is especially true of an above-knee amputation in which the distal physes around the knee have been resected. It may be possible to increase the length of a residual limb in older children by using one of the limb-lengthening techniques (see Chapter 14). Lengthening of a short residual limb may increase the efficiency of gait and promote a better prosthetic fit.

932

FIG. 13.6 (A) Child with unilateral proximal femoral

focal deficiency (PFFD) without any surgical modifications to her leg. (B) Same child wearing a prosthesis to equalize limb lengths for weight bearing. Initial surgery has not yet occurred.

The traditional approach for malignant bone tumors had been amputation of the limb in which the tumor is found. A wide surgical margin for an amputation is utilized to achieve local control of the tumor. Amputation for tumors of the pelvis or proximal femur results in complete loss of the limb or a very short residual limb, which makes functional ambulation with a prosthesis difficult. Limb-sparing procedures may result in a more functional extremity than a proximal amputation without decreasing the expected rate of survival for the child. Due to the short length of the residual limb and advances in chemotherapy since the 1970s, limbsparing procedures have become the preferred surgical approach for both Ewing’s sarcoma and osteosarcoma in the pediatric population.43 The decision regarding an amputation is based on expectations regarding control of the primary tumor, survival of the child, and functional use of the extremity.

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Rotationplasty Rotationplasty (also called the Van Nes procedure) is an option for children with congenital limb deficiencies, specifically PFFD, as well as for those with bony tumors of the proximal tibia or distal femur. For PFFD this procedure involves excision of the distal femur and proximal tibia; 180° rotation of the residual lower limb, including the distal femur and proximal tibia, ankle joint, foot, and neurovascular supply; and reattachment to the proximal femur (Fig. 13.7). The ankle then functions as a knee joint, with ankle plantar flexion used to extend the “knee” and ankle dorsiflexion to flex the “knee”52 (Fig. 13.8). Rotationplasty requires a functioning hip joint and ankle joint. For children with PFFD the residual foot must be adequately aligned anatomically for active plantar flexion and dorsiflexion to power the prosthetic knee. If the fibula is absent, alignment of the foot will not be adequate for a successful rotationplasty. In the case of malignant tumors, the site of rotation is dependent on the location of the tumor. Rotation at the level of the femur proximally may have a greater effect on the function and power of the hip muscles. Rotation at the level of the distal femur or proximal tibia may have a greater effect on the muscles and function of the foot and ankle complex required to power the prosthetic knee.40 Rotationplasty is possible only if the tumor has not invaded the surrounding soft tissue, especially the neurovascular supply.

934

FIG. 13.7 Technique of type BI rotationplasty.

(From Toy

PC, Heck RK: General principles of tumors. In Canale ST, Beaty JH, editors: Campbell’s operative orthopaedics, 12th ed. Philadelphia: Mosby; 2013. Redrawn from Winkelmann WW: Hip rotationplasty for malignant tumors of the proximal part of the femur, J Bone Joint Surg 68A:362, 1986.)

The advantages of a rotationplasty include increased limb length, improved prosthetic function with the ankle serving as a knee joint, improved weight-bearing capacity, and elimination of the problems of terminal overgrowth and pain from neuromas or phantom limb sensations.51 Weight is borne through the heel, which is more suitable for weight bearing than the end of a residual limb. Rotationplasty also allows for some growth of the leg. With an appropriate prosthesis, children who have had a rotationplasty procedure can functionally participate in running, jumping, and playing with their peers and can participate in high-impact sports and activities. Disadvantages of rotationplasty are cosmesis and derotation of the limb. Critics cite poor cosmesis and psychological issues as a deterrent to the procedure. In our experience with children who underwent a rotationplasty for a tumor or for congenital PFFD, cosmesis was not a complaint from the child or the child’s parents. Krajbich and Bochmann51 cite their experience of 27 children with osteosarcoma who underwent a rotationplasty. Twenty-two of these children are alive with no evidence of metastatic disease. No

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long-term complications related to cosmesis and psychological decompensation were reported; in fact, virtually all of the children with a rotationplasty now actively participate in sports and other activities with their peers. When a rotationplasty is being considered as a surgical option, it may be helpful for parents and the child to meet another child who has had the rotationplasty performed. Certainly, the cosmetic disadvantages must be discussed. Additional studies have shown that children with PFFD who underwent a rotationplasty demonstrated a higher walking speed with less oxygen consumption and fewer compensatory gait deviations than children who underwent a foot amputation and foot and knee arthrodesis.24,68 When the procedure is performed on young children, derotation of the limb may occur, requiring rerotation of the limb. The limb may derotate secondary to the spiral pull of the muscles proximal and distal to the osteotomy.46 Both Krajbich52 and Gillespie31 discussed surgical options to limit derotation of the limb after a rotationplasty. Derotation is more common in children younger than 10 years of age and is most frequently seen in children when a rotationplasty is performed at 3 or 4 years of age.31 Concern has also been raised about the long-term consequences of the altered weight bearing on the ankle joint. A study by Akahane4 assessed 21 patients at a mean follow-up of 13.5 years post rotationplasty and found no evidence at that point of joint arthrodesis or degenerative joint changes.

Limb-Sparing Procedures With the use of chemotherapy, improvements in diagnostic imaging to determine tumor margins, and new techniques of reconstruction, amputation is not always the treatment of choice for children with bony malignancies. Limb-sparing procedures may be an alternative to amputation for many children with malignant bone tumors. Limb-sparing procedures involve resection of the tumor and reconstruction of the limb to preserve function without amputation of the limb. Reconstruction of the limb may include excision of bone without replacement of the excised area or replacement with an allograft or endoprosthetic implant.

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FIG. 13.8 An 11-year-old boy who underwent a

rotationplasty procedure. (A) Ankle dorsiflexion. (B) Ankle dorsiflexion produces prosthetic knee flexion. (C) Ankle plantar flexion. (D) Ankle plantar flexion produces prosthetic knee extension.

938

Appropriate selection of children for limb-sparing surgery is critical. The goal of saving the limb should never compromise the goal of removing all gross and microscopic tumor. Limb-sparing surgery is contraindicated if the tumor has invaded the surrounding soft tissue to a large extent, if it involves the neurovascular supply, or if the tumor has invaded the intramedullary cavity.43 In addition, limb-sparing surgery for the lower extremity of a young child may not be beneficial when the child is skeletally immature and may be left with a severe leg length discrepancy and a nonfunctional lower extremity. In these cases, amputation may be a better choice than limb-sparing surgery. Autologous grafts are rarely appropriate because long segments of bone usually must be excised. Replacement of the excised bone with a near-equal length of noninvolved bone from another portion of the body often is not possible. Cadaver structural allografts, intercalary or osteoarticular, are another option. They involve resection of the tumor and surrounding bone and implantation of a section of cadaver bone. Osteoarticular allografts can preserve some growth plates, especially those of the distal femur and proximal tibia, if the tumor resection involves the proximal femur. The grafts are stabilized with plates or intramedullary rods until osteosynthesis has occurred. Once osteosynthesis has occurred and the child’s bone has formed a latticework within the implanted bone, the graft is very stable and may last a lifetime. Complications of allografts include infection, nonunion, and fracture, all of which may compromise the long-term integrity of the implant. Infections and nonunions are early-onset complications that are seen with greater frequency in children receiving chemotherapy.37 As is true with most limb-sparing procedures, high-intensity activities such as athletic participation are limited for the child with an osteoarticular allograft. At times a tumor may be excised without replacing the excised bone. The proximal fibula may be resected if the soft tissue involvement is minimal and the peroneal nerve is not included in the soft tissue involvement. The biceps femoris tendon and the fibular collateral ligament are reattached to the lateral condyle of the tibia.45 After healing, full knee motion and a normal gait pattern can be expected. Endoprosthetic devices are ultimately an extension

939

of joint arthroplasty procedures. These manufactured devices consist of modular components that are implanted in the area of the excised bone such as the proximal humerus, elbow, proximal and distal femur, and proximal tibia. These modular components may be periodically replaced surgically to compensate for the child’s growth. This surgical exchange of components involves multiple surgical procedures for the skeletally immature child, and each procedure predisposes the child to complications of infection, pain, and vigorous postoperative physical therapy to restore function and mobility.64 Endoprosthetic designs often incorporate a telescoping unit that can be expanded to accommodate growth. Expansion of the prosthesis typically involves a surgical procedure at periodic intervals. Complications of expansion include loosening of the prosthesis, infection after lengthening procedures, mechanical failure, and fracture. The need for repeat surgical procedures to expand or grow the device is costly and inconvenient for the child, and the risk for infection is increased with each procedure. A review by Eckardt and colleagues20 of 32 patients with expandable prostheses included patients ranging from 3 to 15 years of age. Fourteen of the 32 patients had no complications; 18 patients had 27 complications, including infection, loosening of the device, mechanical failure, fracture, knee flexion contracture, and prosthetic shoulder joint subluxation; and 1 patient died of a pulmonary embolism. The authors stressed the need for strong family participation during rehabilitation to avoid knee flexion contractures in skeletally immature patients. Effective growth of the child’s limb of 7 to 9 cm with the use of an endoprosthetic device has been reported.20 To avoid the multiple surgical procedures involved with the modular devices and the early telescoping units, an endoprosthesis that can be expanded with the use of an external electromagnetic field was developed. Exposure of the limb to the electromagnetic field unlocks an energy-stored spring and allows for controlled lengthening without a surgical procedure.94 Early studies showed decreased rates of infection and more frequent but smaller adjustments in length that were less disruptive to gait and possible range of motion (ROM) complications.8,65 Ness and colleagues found that similar functional results were achieved with the

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noninvasive expandable endoprosthetic device compared with a modular device requiring periodic surgical procedures.67 Limb-sparing surgery yields similar recurrence rates as amputation when adjuvant chemotherapy is used and when particular attention is given to patient selection, surgical margins, and surgical techniques.81 A limb-sparing procedure involving the distal femur and/or proximal tibia may result in a significant leg length difference in a child 10 years of age or younger because growth will be lost with excision of the growth plates around the knee. Futani and colleagues26 retrospectively assessed 40 children younger than 11 years who underwent a limb-sparing procedure secondary to a bone sarcoma. They determined that a limb-sparing procedure could provide good functional outcomes in this younger population. The authors did caution that the functional outcome often was the result of multiple procedures and revisions, including limb lengthenings for expandable prostheses.26 A long-term complication of lower extremity limb-sparing procedures is reduced ROM, especially at the knee.10 The ROM deficits, specifically at the hip and knee, that are frequently seen after a limb-sparing procedure are correlated with deficits in mobility.58 Children with knee flexion ROM deficits exhibited greater difficulty with timed up and down stairs, timed up and go, and a 9-minute run-walk distance. Lifestyle of the child is another important presurgical consideration because many limb-sparing procedures such as osteoarticular allografts and endoprosthetic implants may limit participation in competitive physical activities. Recent studies have shown that young adults who underwent a limb-sparing procedure for a bone tumor participate in fitness and sports activities regularly. Participation is influenced by presurgical activity level as well as type and level of surgical procedure and long-term complications such as peripheral nerve damage.47,54 Limb-sparing procedures such as rotationplasty and limb lengthening are increasingly used with children with congenital limb deficiencies to avoid an amputation and often result in excellent function for the child.

Comparison of Surgical Options 941

With improved survival rates of children with bone sarcomas since the 1970s and the increased use of limb-sparing procedures, it is important to assess the functional outcomes of the various surgical options and to understand the role of physical therapy in successful rehabilitation of these children. Limb-sparing procedures were developed to provide alternatives that spare the child’s limb and minimize the functional limitations associated with high-level amputations. However, most of the outcome studies have not demonstrated the marked advantage of limb-sparing procedures that was expected because of some of the complications associated with these procedures. To compare outcomes, it is best to differentiate between belowand above-knee amputations, as well as between femur and tibia limb-sparing procedures. Ginsberg et al.34 compared functional outcomes and quality of life among children who had an amputation, limb-sparing, or rotationplasty procedure. They utilized a newer assessment tool, the Functional Mobility Assessment (FMA), which measures pain, timed up and down stairs, timed up and go, use of ambulation supports, satisfaction of walking quality, participation in work and sports, and endurance.57 Adolescents and young adults who underwent a femur limbsparing surgery scored significantly higher on the FMA than those who had an above-knee amputation. However, those who underwent a below-knee amputation scored higher on quality of life measures than those patients who had a limb-sparing procedure of the tibia. Pardasaney70 and colleagues found that individuals who had undergone an above-knee amputation used an assistive device and walked with a limp more frequently and had higher anxiety levels than those had a femur limb-sparing procedure. However, employment status and ability to participate in sports were not significantly different between the two groups. Researchers also reported that no significant physical functioning or psychological differences were noted between individuals who had a below-knee amputation and those who had a tibia limb-sparing procedure.

Limb Replantation 942

For children with traumatic amputations, limb replantation may be a surgical option. As with other surgical options, the goal of replantation is directed not only at preserving the amputated limb but also at restoring pain-free function to the extremity that is superior to the function obtained with a prosthesis. For an upper extremity replantation to be considered successful, function of the elbow and hand and distal sensation must be restored. Replantation of a lower extremity must provide a painless, sensate extremity capable of bearing weight during normal daily activities.9 Distal replantations of an upper extremity usually result in a more favorable outcome than proximal replantations and are performed more frequently. Digit replantation occurs in approximately 40% of pediatric finger amputations.87 Proximal replantations are often associated with a violent mechanism of injury that results in damage to the nerves, blood vessels, and muscles. A proximal replantation also necessitates a longer distance for the nerves to regenerate for functional use of the hand. Physical therapy is indicated for these children for wound care, control of edema, joint ROM, strengthening, gait training, and self-care activities. Rehabilitation will include close communication with the physician regarding precautions and progression of activities and family instruction while the child is in the hospital and is treated as an outpatient.

Osseointegration Osseointegration is the direct attachment of a prosthesis to the end of the bone of the residual limb. The prosthesis attaches to an abutment that has been surgically attached to the bone and protrudes through the skin. The concept of directly attaching a prosthesis to the bone is not new, but the technology to enable the interface of a foreign material with the bone and yet protrude through the skin has expanded the clinical application of this technique. Osseointegration is a long process that requires multiple surgical procedures. The first surgical stage involves the implant of a threaded cylinder directly into the end of the residual bone. At least 6 months later a metal abutment is threaded onto the existing cylinder at the second surgical stage. The metal abutment protrudes

943

through the skin at the distal end of the residual limb and will eventually receive the prosthesis. During the last but lengthy stage, weight-bearing loads on the abutment are gradually increased through the use of a temporary and then a permanent prosthesis. To allow for secure integration of the abutment with the skeleton, this last stage of gradually increasing weight-bearing loads can take well over a year.71,79 The purported advantages of osseointegration are the elimination of a socket and the inherent problems associated with poorly fitting sockets and suspension methods. Because the prosthesis is directly attached to the bone through the abutment, some sensation is preserved such as the ability to perceive stepping on a stone or an uneven surface.71 This procedure is still in its early stages and is not indicated at this time for children or adolescents who are skeletally immature.

Phantom Limb Sensations Phantom limb sensations are an occurrence in many adults with amputations, but fewer reports are available concerning children with phantom limb sensations. Some persons may believe that if young children do not complain of phantom limb pain, they therefore must not have any pain. Melzack and colleagues61 reported that 20% of individuals with a congenital limb deficiency and 50% of those with an acquired amputation before 6 years of age experienced phantom limb sensations. However, most of the individuals reporting phantom limb sensations reported not pain but rather the perceived ability to voluntarily move the phantom limb.61A study from St Jude Children’s Research Hospital found that 70% of children and young adults experienced phantom limb pain at some point during their first year after a cancer-related amputation.11 The phantom limb sensations and pain of adolescents can become intense. If left untreated, phantom limb sensations can become debilitating and interfere with prosthetic wear and daily activities. Some teenagers are able to control the sensations through rubbing or massaging the uninvolved limb at similar points to those in which they are experiencing the phantom limb sensations of the

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amputated limb. Others feel more in control by keeping a daily log of their sensations and reporting the pain intensity on one of a variety of pain scales. Mirror therapy has been proposed as an effective intervention to reduce phantom limb pain through the facilitation of an illusion of an unaffected limb. Mirror therapy theorizes that this illusion of two unaffected limbs fosters reorganization of the somatosensory cortex of the brain to reduce phantom limb pain.77 For some adolescents the use of analgesics may be beneficial. If available, a referral to a pain management team should be instituted for children undergoing amputations.

Overview of Prosthetics Upper Extremity Prosthetics Upper extremity prosthetic systems may be body powered or externally powered. Externally powered prosthetic devices are typically referred to as myoelectric devices. Body-powered components include a terminal device, a wrist unit, possibly an elbow unit, and a socket and are operated by a harness and cable system. With a myoelectric system a muscle contraction activates electrodes placed in the direction of the muscle fibers in the socket on designated muscles, which act to control the terminal device, wrist, or elbow. Children may also utilize a prosthesis that is a combination of body-powered and externally powered components. For example, the child may operate the elbow using a body-powered cable system and operate the hand with a myoelectric system.22

FIG. 13.9 Terminal device options: (A) Passive Infant

Alpha Hand. (B) L’IL E-Z Hand promotes grasping

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when the thumb is moved. (C) ADEPT voluntary closing hand. (Courtesy TRS, Boulder, CO.)

FIG. 13.10 Prosthetic feet options: (A) Little Feet. (B)

Flex-Foot Junior. (C) Truper Foot. ([A] Courtesy TRS, Boulder, CO. [B] Courtesy Össur Americas, Foothill Ranch, CA. [C] College Park Industries, Warren MI.)

Terminal devices range from the passive hand or fist to a myoelectric hand. Terminal devices often used in pediatrics include the passive fist or hand, the CAPP (Child Amputee Prosthetics Project [Hosmer Dorrance, Campbell, CA]), various hooks, including the Dorrance and ADEPT (Anatomically DesignedEngineered Polymer Technology [Therapeutic Recreation Systems, Boulder, CO]) models, and myoelectric hands such as the Ottobock Electrohand (Ottobock Orthopedic, Plymouth, MN) and the New York Mechanical Hand (Hosmer Dorrance) (Fig. 13.9). The child’s age and size, as well as the parents’ and child’s desires and functional goals, determine the appropriate terminal device. The wrist unit allows forearm pronation and supination and accommodates the terminal device. As a child’s activities change, different terminal devices may be needed. Various recreational terminal devices are available to allow participation in a variety of sports activities.16,22 Teenagers may desire a cosmetic hand for social activities and a functional terminal device for daily activities. Suspension systems generally fall into two categories. The first is a harnessed system that is used to suspend a prosthesis or to control a terminal device. Both above-elbow and below-elbow amputation levels can use this type of suspension. The figure 8 and the chest strap are two harness configurations that can be used to

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suspend and/or control a terminal device. The figure 8 harness and chest strap fit over the shoulder of the involved limb and around the chest to secure the prosthesis without limiting shoulder movement. The figure 8 harness securely anchors the prosthesis, so the child may activate the cable system of an above-elbow prosthesis. Self-suspending sockets are available for young children. A simple self-suspending socket may be all that is necessary to suspend a below-elbow prosthesis of an infant or toddler. If additional suspension is required, a small silicone sleeve can be rolled over the prosthesis and onto the humeral area. This affords added suspension without any additional restriction of movement. When the cable for the terminal device is added to the prosthesis, a triceps pad or cuff to secure the cable can be incorporated. A shoulder disarticulation prosthesis is secured with a chest strap. A prosthesis at this level is often very difficult to fit and now is most commonly restricted to myoelectric or hybrid control. With recent developments in upper extremity research, an increasing number of options are becoming available to the child amputee. Electrodes embedded into silicone liners allow the prosthesis to be both self-suspending and myoelectrically controlled. Recent technological enhancements to electrodes now allow the fitting of children with heavy scarring or weak signal strength so they can benefit from a myocontrolled prosthesis.

Lower Extremity Prosthetics The fact that children are growing and may be facing several surgical interventions makes fitting a child with a prosthesis very different from fitting an adult with a prosthesis. In addition, angular deformities associated with various congenital deficiencies result in gait and alignment challenges not generally seen in the adult traumatic population. Consequently, many prosthetists will fit a child with a prosthesis that accommodates some growth, stage the introduction of components, and utilize components that can be replaced as the child grows. The variety of components available to the pediatric population continues to expand but does not yet compare with the wide variety available for the adolescent or adult

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population. The SACH (Solid Ankle Cushion Heel) (Ottobock) foot has long been the mainstay for pediatric prosthetic feet and continues, in various forms, to be used for young toddlers. The L’IL foot (TRS Industries, Fargo, ND) is a variation of the SACH foot. The entire foot is made of a more flexible plastic that allows a better response during kneeling and pulling to stand. However, young children can now be fitted with dynamic-response or energy-storing feet (Fig. 13.10). In two separate retrospective analyses, Anderson found that parents and children preferred the cosmetic appearance of dynamic response feet and stated that these feet improved their child’s endurance and possibly stability.3

FIG. 13.11 Total Knee Junior is a polycentric knee that

provides stability and aids in the initiation of a smooth gait pattern. (Courtesy Össur Americas, Foothill Ranch, CA.)

The shank of a lower extremity prosthesis has either an exoskeletal or an endoskeletal design. Exoskeletal shanks are

948

fabricated of a rigid polyurethane foam and are laminated to form a hard outer covering. Endoskeletal shanks consist of a pylon made of ultralight material, such as graphite or titanium, and covered with foam. Teenagers often prefer endoskeletal shanks because of their cosmesis and decreased weight. The durability of exoskeletal shanks is often more appropriate for the younger child. Exoskeletal shanks can then be finished with various patterns or designs that are appropriate for the younger amputee. A wider variety of prosthetic knees are now available for the pediatric population, including toddlers just beginning to pull to stand. A single-axis constant-friction knee is set to function at a certain walking speed. If the speed of walking increases, the prosthesis lags behind because the shank cannot swing through as quickly as the uninvolved limb. In addition, this type of knee is not very stable and buckles quickly if the ground reaction force is not anterior to the knee joint. When the young toddler who is only beginning to stand is fitted, the socket is aligned anterior to the knee center to increase stability. Another type of knee joint available for the pediatric population is a polycentric knee with a four-bar linkage mechanism (Fig. 13.11). A polycentric knee mimics the anatomic knee joint to increase stability. The axis of motion is posterior during stance to provide added stability and anterior during swing to shorten the shank and assist with clearance. A lower extremity prosthesis with a polycentric knee is shown in Fig. 13.12. Polycentric knees are now available for use with toddlers, leading some centers to incorporate a prosthetic knee into a child’s first prosthesis. A larger variety of knee units are available for teenagers, including hydraulic, pneumatic, and microprocessor-controlled knees. Hydraulic and pneumatic knee units are variable-friction units that allow variable walking and running speeds. Variablefriction units are equipped with a swing control mechanism that sets the drag of the shank through swing phase and a stance control unit that permits knee flexion during stance without collapse of the leg. Swing and stance control mechanisms are excellent options for active teenagers, especially those engaged in physical activities. Drawbacks of hydraulic and pneumatic knees are the added weight to the prosthesis, cost, and the intricacy of adjustments. Recent

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advances in technology have reduced the size and weight of hydraulic systems, resulting in a more functional option for the child amputee.

FIG. 13.12 Example of a lower extremity prosthetic

system, including socket; 3R60 is a polycentric knee joint and 1C30 Trias is a prosthetic foot. (Courtesy Ottobock HealthCare LP, Austin, TX.)

Like adult sockets, pediatric socket design has changed over the past 15 years. Children with a transfemoral amputation can be fitted with a narrowed medial-lateral ischial containment socket or an anatomically correct socket design. The narrowed medial-lateral socket with ischial containment more evenly distributes weightbearing pressures and allows less lateral movement of the distal femur, thereby providing greater stability during stance. Adolescents with a below-knee or transtibial amputation may be fitted with the standard patellar tendon–bearing socket or total surface-bearing design. However, younger children may require a

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supracondylar socket that offers greater suspension. Because most congenital deficiencies result in disarticulations, the Syme prosthesis is the most common lower extremity socket design in the pediatric population. The bulbous end present in most Syme revisions allows for a suspension point just proximal to the distal end. The bladder or segmented socket design is then used to increase independence and eliminate additional suspension systems. These designs are often referred to as self-suspending. Infants and toddlers will require some type of suspension to secure their prosthesis. A Silesian belt or total elastic suspension (TES) belt works well for younger children with an above-knee amputation or PFFD, and preschoolers can become independent in their use (Fig. 13.13). Neoprene sleeves and silicone liners with a locking mechanism are additional suspension methods commonly used with young children. The silicone liner is rolled on the residual limb, and the pin on the end of the sleeve is threaded into the prosthesis and locked in place. To remove the prosthesis, the pin is released by pushing a button on the distal end of the socket16 (Fig. 13.14).

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FIG. 13.13 Toddler with a right proximal femoral focal

deficiency fitted with a prosthesis before any surgical procedures were performed to modify her leg. A neoprene total elastic suspension belt is used as the suspension method to secure the prosthesis.

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FIG. 13.14 Suspension systems may utilize a silicone

liner that is rolled onto the residual limb and attached to the distal end of the socket with a pin-locking mechanism. (Courtesy Össur Americas, Foothill Ranch, CA.)

Suction sockets are appropriate for the older child who is not growing rapidly or is undergoing weight fluctuations secondary to chemotherapy treatment. Suction sockets utilize negative pressure as air is expelled through a distal valve and surface tension between the skin and socket to maintain the suspension.16 Advances in silicone liners allow a suction fit over the liner with various design elements that may include a ring seal. A ring seal and other design elements aim to improve the suction and mechanical suspension of the socket as well as to reduce rotation and pistoning of the socket.

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FIG. 13.15 Catcher is an adolescent with a left below-

knee amputation.

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FIG. 13.16 Tossing a tennis ball using a prosthesis

with a passive hand.

Children with a rotationplasty use a prosthesis that incorporates the plantarflexed foot in the socket. The socket is essentially a below-knee socket with a thigh cuff attachment and external hinges for the knee joint. A Silesian or TES belt may be needed for suspension. Children of all ages with a limb deficiency or amputation should be encouraged to participate in activities with their peers. Many children may want to participate in sports at a recreational or a competitive level (Fig. 13.15). Many prosthetic options are available that promote participation in various sports. Recreational prosthetics options are too numerous to mention for this discussion, and the reader is referred to other resources.76 Ultimately, any prosthesis for a child should allow the opportunity for ageappropriate function and be cosmetically appealing to the child and family (Fig. 13.16). Decision making for infants’ and toddlers’ prosthetic needs should include the parents, orthopedist, prosthetist, and physical therapist. The older child should be included in the decision-making process. Appropriate prosthetic components are costly, and a full

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prosthesis must be replaced at least every 12 to 18 months for growing children and adolescents. If an adolescent chooses to participate in sports or swimming activities, an additional prosthesis or components may be required. Third-party payers are reluctant to pay for multiple prostheses or myoelectric devices. Currently, some health maintenance organizations will pay for only one prosthesis in a lifetime. Studies are beginning to examine the cost-effectiveness of surgical procedures and various prosthetic options. Grimer and colleagues38 compared long-term costs of limb-sparing procedures versus amputation with a prosthesis. Limb-sparing procedures are more costly initially, but amputations for children or adolescents are very costly over time because of the need for multiple and sophisticated prostheses.

Foreground information Physical Therapy Intervention for the Child with a Limb Deficiency or An Acquired Amputation The parents are an integral part of the rehabilitation team for a child with an amputation or a limb deficiency. The rehabilitation team should also include an orthopedist, a prosthetist, and a physical therapist who are experienced in the management of children with amputations. This may often mean traveling to a major medical center for periodic assessments and prosthetic adjustments. Physical therapy can be delivered in the local community if available, but the therapist must be in communication with the managing rehabilitation team. The overall goals of physical therapy are to facilitate as normal a sequence of development as possible for the child and to prevent or minimize the development of impairments, activity limitations, and participation restrictions. Impairments can include joint contractures and weakness with resultant activity limitations of reduced mobility and a lack of independence in self-care skills. Physical therapy goals are directed toward preventing joint

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contractures, minimizing muscle strength imbalances, preventing skin breakdown, and developing independence with mobility and self-care skills. Ideally these goals are accomplished through physical therapy intervention for the child, child or parent instruction, and follow-up of a child’s progress and functional outcomes. The child’s age, type of limb deficiency, or level of amputation, as well as other medical factors, will influence the intensity of physical therapy needed. The physical therapy examination should follow the components listed in the Guide to Physical Therapist Practice.5 A thorough examination of joint integrity and mobility and range of motion is important for the child with a limb deficiency. Some children with a congenital limb deficiency may have other associated musculoskeletal impairments, as well as other syndromes that affect the integrity of the musculoskeletal system. Integumentary integrity will be important postsurgery and for the child with a prosthesis. Examination of gait and balance, neuromotor development, aerobic capacity and endurance, community and work integration, and self-care will begin to highlight the child’s functional abilities (Box 13.1).

B O X 1 3 . 1 Recommended

Measures for

Children With Limb Deficiencies or Amputations Body Functions and Structures Pain Skin integrity Anthropometric measures Range of motion Strength

Activity – Single Task 6-minute walk test Timed up and down steps

Activity – Multiple Items

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Peabody Developmental Motor Scales Pediatric Balance Scale Functional Mobility Assessment (FMA) Child Amputee Prosthetics Project – Functional Status Inventory (CAPP-FSI)

Participation Pediatric Quality of Life Inventory (PedsQL) Pediatric Evaluation of Disability Index (PEDI) Functional outcomes can be assessed using current assessment tools. However, these assessment tools may not be able to determine the functional effectiveness of various prosthetic options. Third-party payers and state-funded programs will opt for the prosthetic options that are less costly if outcomes are not present to justify the more expensive options. Pruitt and colleagues (1996) developed and tested an outcome measure for children with limb deficiencies. The Child Amputee Prosthetics Project—Functional Status Inventory (CAPP-FSI) assesses 40 activities on two scales to determine whether the child performs the activity with or without a prosthesis. The child is also rated for the severity of his or her limb loss. Internal reliability for the two scales that compose the CAPPFSI was 0.96.73 The CAPP-FSIP and the CAPP-FSIT were developed to assess the functional outcomes of preschoolers age 4 to 7 years and toddlers age 1 to 4 years, respectively.74,75 The FMA is a more recently developed functional outcome measure that has been validated for children and young adults with bone sarcomas. The FMA comprises six categories: (1) pain, (2) function as measured by the timed up and down stairs (TUDS) and the timed up and go (TUG), (3) use of supports or assistive devices, (4) satisfaction with quality of walking, (5) participation in work, school, and sports, and (6) endurance as measured by a 9-minute walk/run test.57

Infancy and Toddler Period An infant with a limb deficiency should be referred for an initial examination by a pediatric orthopedist and a physical therapist shortly after birth. Monitoring by the physical therapist with suggestions to parents regarding positioning and ROM exercises

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may be all that is needed initially. The motor development of children with multiple limb deficiencies or upper extremity deficiencies may become delayed or impaired owing to their inability to use their arms for such activities as pushing up to sit, crawling, and pulling to stand. Physical therapy is necessary to monitor the infant’s developmental progress, ROM, and strength needed for later prosthetic use. The physical therapist should also teach the parent or caregiver how to incorporate physical therapy goals into the child’s daily activities. This can be accomplished through periodic physical therapy examinations and evaluations, optimally at 1-month intervals, with updated parent instruction provided. Generally, infants with limb deficiencies do not develop contractures after birth, but ROM should be carefully monitored according to individual needs. The parents of a child with a PFFD may benefit from instruction to decrease the hip flexion and abduction contractures that are typically noted at birth and will later interfere with prosthetic fit. Most children with upper extremity limb deficiencies will maintain ROM and strength through their developmental activities. Careful monitoring of the developing infant is necessary to evaluate ROM, functional strength, weight-bearing capabilities, and posture while prone, sitting, and standing. Often a child with a limb deficiency will tend to bear weight asymmetrically in prone and during sitting activities. Some children will take increased weight on their limb-deficient side to free their uninvolved side for reaching and movement. Other children may take more weight through their uninvolved side because of weight-shifting and balance difficulties. Suggestions may be given to the parents and therapy provided to encourage weight-shifting activities to improve symmetry. For the child with an upper limb deficiency, this will encourage cocontraction of the shoulder musculature as needed later for prosthetic use. For the child with a lower limb deficiency, this encourages assumption of an erect trunk with normal balance reactions. Shifting weight to the limb-deficient side is also important for the preprosthetic training needed for standing and ambulation activities. If an infant is not progressing developmentally, physical therapy

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intervention may be warranted to provide alternative methods of achieving the normal developmental sequence. For example, a child with bilateral upper extremity limb deficiencies may need assistance to learn to stand from sitting or to safely learn to balance in standing. A child is usually fitted with a prosthesis at a developmentally appropriate age. A child with a lower extremity deficiency will be fitted for a prosthesis when weight bearing is appropriate and the child is beginning to pull to stand (between 8 and 10 months of age depending on the child’s developmental progress). A child with a unilateral PFFD may initially be fit with an extension prosthesis to equalize limb lengths as soon as transitioning into and out of standing while biding time to allow for skeletal development that will determine the surgical options.62 A child with an upper extremity limb deficiency may be fitted with a prosthesis to assist with early playing skills in sitting or even as early as 3 months to assist with weight-bearing skills while prone. Children are typically fitted with an upper extremity prosthesis between 5 and 7 months, when they are able to sit independently.83 When a child first receives a prosthesis, the fit and alignment as well as the overall function of the prosthesis are assessed. The initial session is spent on instructing the parents in properly donning the prosthesis, checking the skin, and developing a wear schedule. The initial goal is to have the infant or toddler wear the prosthesis comfortably for as many hours a day as possible and for the parents to be comfortable in donning and removing the prosthesis. The prosthesis may be removed for naps and should be removed when the child sleeps at night. A child with an upper extremity prosthesis may initially ignore it. The focus of therapy should be on having the child wear the prosthesis while playing and to begin to use it for bimanual play such as manipulating and holding large toys and during gross motor activities such as pushing up to sitting or quadruped, protective reactions, and propping in sitting.

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FIG. 13.17 Toddler holding a toy in the passive hand of

her prosthesis.

The child’s first upper extremity prosthesis may have one of several terminal device options (see Fig. 13.9). A young infant may have a nonarticulating hand that is cosmetically appealing but has limited movement (Fig. 13.17). As the child begins to engage in bimanual play, reaching, and propping activities, the decision to use a body-powered or an externally powered myoelectric device is made. Body-powered devices may be a simple split hook terminal device or a CAPP voluntary opening device. The split hook is similar to that used with adult prosthetics, except it is smaller. The CAPP was designed specifically for children, is cosmetically more appealing than a hook terminal device, is safer than a hook for a young child, and provides an efficient grip without requiring great operating force. The goal for the young child at this time is to adjust to the weight of a prosthesis, to begin to use it to manipulate larger toys, and to shake or remove toys placed in the terminal device by an adult. Children are not expected to begin to operate the terminal device

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until 18 months of age or later, when they understand simple commands and cause and effect.83 Training to operate the terminal device is dependent on the child’s developmental level. Generally, children are taught to open the terminal device, place objects in it, and then release them, in that order. This corresponds with the normal developmental sequence of learning to grasp before learning to release objects.72 The therapist must be familiar with the mechanism that controls the terminal device because this can differ from child to child, depending on the design of the device. The CAPP and Hosmer Dorrance hook are voluntary-opening terminal devices; forward reaching of the arm pulls the cable tight and activates opening of the terminal device. Children with a transverse deficiency of the upper arm will need to use scapular abduction to activate opening of the terminal device with the elbow locked; control of the prosthetic elbow comes at a later age. The ADEPT hook is a voluntary-closing terminal device designed to mimic forward reaching to grasp or close on an object (Fig. 13.18). If the decision is made to fit the child with an externally powered prosthesis, the New York Hand (Hosmer Dorrance) or the Ottobock Electrohand is commonly used with young children. Children typically are fitted initially with a myoelectric hand with only one electrode. When this electrode is activated through muscle contraction, the hand opens. When the child relaxes the muscle, the hand closes. Typically, by 3 to 4 years of age the child’s myoelectric device can be converted to two electrodes, two sites, so that opening and closing the hand are controlled by the child16 (Fig. 13.19).

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FIG. 13.18 Child engaging in bimanual play wearing a

forearm prosthesis with an ADEPT voluntary closing hook. (Courtesy TRS, Boulder, CO.)

Recent evidence indicates that children younger than 2 years with a lower limb deficiency or above-knee amputation can be fit with a prosthesis that incorporates a prosthetic knee. Infants and toddlers demonstrated the ability to transition into and out of positions, crawl, squat, and play in kneeling and tall kneeling incorporating the prosthetic knee29,30 (Fig. 13.20). The principle for fitting a young child with a knee component is that knee flexion during gait simulates a more normal gait pattern and may therefore eliminate some of the gait deviations, such as vaulting on the uninvolved limb and circumduction of the prosthetic limb that may develop and become ingrained after ambulating with a prosthesis without a knee.15 When toddlers are fitted with a lower extremity prosthesis, normal stance and gait patterns for their developmental age should be kept in mind. Children 1 year of age stand and walk with a wide base of support and exhibit increased hip external rotation during

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the swing phase.90 For this reason, a toddler’s prosthesis may need to be aligned with greater hip abduction than is provided to an older child. Because a goal of physical therapy is symmetry of posture and movement during developmental activities, proper alignment and controlled weight-shifting and balance activities are emphasized for children with a lower limb prosthesis. Many children with a lower limb prosthesis do not require an assistive device for ambulation; however, initial gait training with an assistive device promotes a reciprocal gait pattern and an erect trunk. As the child develops balance and is able to control weight shifting, he or she will naturally discard the assistive device when comfortable with independent ambulation.

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FIG. 13.19 Young girl using her myoelectric single-site

prosthesis to complete a bimanual activity.

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FIG. 13.20 Toddler with his first bilateral transfemoral

prosthesis with knee joint to promote age-appropriate ambulation skills and play activities on the floor.

Preschool- and School-Age Period When a child attends a preschool or kindergarten class for the first time, many anxieties may resurface for the parents of a child with a limb deficiency. Parents will worry that their child may not fit in or will look different from his or her peers. This is also an age by which typical children have achieved independence with ADL skills such as eating and dressing, and their social relationships with peers increase. The preschool years should emphasize development of independence in self-care skills and mobility and acquisition of school skills such as coloring, cutting, and writing. If these skills are achieved during the preschool years, the child will enter school with minimal or no activity limitations or participation restrictions. The child with an upper limb deficiency should be able to

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activate the terminal device of the prosthesis by this age. Children using above-elbow prostheses can begin to learn to control the elbow by 3 or 4 years of age. Most above-elbow body-powered prostheses have a dual cable system that allows the child to control elbow flexion and extension and forearm pronation and supination. With control of the elbow and forearm, the terminal device of the prosthesis becomes more functional in a variety of positions. Emphasis should always be on assisting the child to learn skills that are appropriate for his or her age. Play skills involving manipulation of smaller objects, using the prosthesis to hold and turn paper for coloring and cutting activities, holding the handlebars of a tricycle, and self-dressing and feeding skills are important. A child with a unilateral upper limb prosthesis will always use it as a helper hand and not as the dominant hand. For those children with bilateral upper limb deficiencies, the use of a prosthesis should be carefully monitored. These children should always be allowed to use their feet or mouth for play and self-care activities. A prosthesis may aid these children for only some periods of the day and may actually limit their function during some activities. Children with lower limb deficiencies requiring the use of prostheses, including those children with unilateral PFFD, should be functional ambulators at this age. During the preschool years, some surgery is usually necessary for the child with a unilateral PFFD. Femoral osteotomy, arthrodesis of the knee joint, and foot ablation are usually performed between 2.5 and 4 years of age. These procedures increase the lever arm of the thigh and eliminate any knee instability.31,62 Femoral or tibial epiphysiodesis may be performed at the time of knee arthrodesis. The ultimate goal is for limb length on the prosthetic side to be 5 cm shorter than on the contralateral femur. This enables the prosthetic knee joint to be at approximately the same level as the contralateral knee joint at maturity. Placement of the prosthetic knee joint at the same level as the contralateral knee joint allows for improved cosmesis and improved gait. For the child with an acquired lower extremity amputation, an immediate postoperative fit prosthesis (IPOP) or preparatory prosthesis is typically prescribed. This may not be the case if significant trauma to the surrounding tissue was present or if skin

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grafting was necessary after the injury. The physical therapy examination and evaluation focuses on sensitivity of the residual limb, active movement, strength, bed mobility, transfers for toileting and getting out of bed, and ambulation. The goals of postoperative physical therapy are similar to those for an adult with an amputation. Children are more likely than an adult to move about after an amputation, so contractures are less likely to occur. However, some children undergoing chemotherapy are extremely ill and weak and may tend to lie in bed with their residual limb propped on pillows. They must be monitored for developing contractures, and parents and nursing staff must be instructed in ROM exercises and positioning of the residual limb. Gait training should begin as soon as cleared by the physician. Young children can safely learn to ambulate with their preparatory prosthesis using a walker or crutches. If a child has been hospitalized for a period of time, strengthening exercises for the uninvolved leg and the residual limb may be necessary. After removal of the preparatory prosthesis, the child is fitted with a definitive prosthesis. The exception to this would be a child who is undergoing chemotherapy. Weight gain and weight fluctuations are common, and these children tend to remain in their preparatory prosthesis for a longer period of time to allow their limb size to stabilize before moving on to their definitive prosthesis. Children with above-knee amputations should be fitted with a prosthesis with a knee joint. Most children with an above-knee amputation will require a suspension method to help hold the prosthesis in place. Instruction must be given to both the parents and the child in donning and removing the prosthesis, care of the prosthesis, skin checks, and wear schedule. For the child who undergoes a rotationplasty, gentle active and active-assisted hip, ankle, and foot exercises should be initiated per the surgeon’s or team protocol. For ambulation and sitting, 0° to 20° of ankle dorsiflexion is more than adequate. Some children will be able to achieve 30° of ankle dorsiflexion, which will allow for some squatting activities and facilitate bike riding. Maximal plantar flexion will allow for greater extension of the leg in stance. Optimal plantar flexion ROM is at least 45° to 50°; the prosthetist can align

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the prosthesis to achieve an additional few degrees of plantar flexion for stance. Exercises should begin gently and progress to active and resistive exercises. The child who undergoes a rotationplasty is fitted with a custommade prosthesis that incorporates the foot in a position of maximum plantar flexion and allows it to act as a knee joint. An external knee hinge joint with an attached thigh cuff may be used for suspension, or the prosthesis may incorporate a laminar thigh socket and utilize a TES or Silesian belt for suspension. A child who has had a limb-sparing procedure will also require physical therapy after surgery. Lower extremity procedures usually require a period of non–weight bearing. Rehabilitation for children with a limbsparing procedure to the upper or lower extremity includes exercise through active movement with progression to strengthening exercises. The progression of the intervention is dictated by the procedure that was performed, the surgeon’s protocols, and the amount of bone replaced. Children who have had a limb-sparing procedure involving the femur will also frequently require physical therapy after a lengthening procedure of the endoprosthetic implant. ROM of the knee often becomes restricted, similar to what is seen with children who undergo limb-lengthening techniques (see Chapter 14). Gait training for all children at this age will focus on symmetry and the normal characteristics of gait, such as stride length, step length, and velocity, as well as all skills that the child needs to participate in play and games with other children. When initially learning to ambulate or after a surgical procedure, most children will use an assistive device. As balance and ambulation speed improve and postsurgical limitations are lifted, many children will begin to discard the assistive device. The assistive device should be discarded, however, only if the child’s ambulation is safe and speed is functional to keep pace with the child’s peers. During the school-age years the physical therapist should instruct the child in running techniques so that he or she may participate in play and games with her or his peers. This is the age at which the child may also show an interest in participating in various sports or recreational programs designed for persons with amputations. When attending school for the first time, the child will be

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questioned about the prosthesis and assistive devices. This is especially true of a child with an upper limb deficiency. A meeting before the beginning of school with the child and his or her parents, the child’s teacher, and perhaps the child’s physical therapist may be helpful to allay any concerns and to answer or develop a way to answer the questions of the child’s peers. The child with a unilateral limb deficiency or amputation should succeed in school with minimal adaptations. The child with bilateral upper limb deficiencies may need to use voice-activated technology or a computer to assist with writing skills. In school a child with bilateral upper limb deficiencies may be able to carry papers or books in the classroom between the chin and shoulder. The child may use the mouth for manipulating and holding objects such as pencils. Whether the child uses his or her feet in school for manipulation or grasping is something that should be clearly discussed with the child, parents, and teacher before school entrance. Many children opt not to use their feet for grasping objects in public as they get older; however, this can limit their independence, especially with toileting and feeding. If a child is adept with the use of his or her feet and is independent and chooses to use the feet, this should not be discouraged. If the teacher displays a supportive attitude toward the child’s use of the feet, the child’s classroom peers will soon view this as usual procedure in their classroom. The ultimate outcome is for the child to be functional in our society as an adult; this may mean use of the feet or a combination of use of the feet and prostheses.

Adolescence and Transition to Adulthood Adolescence, with its hallmark concerns of appearance and acceptance by peers, relationships with the opposite sex, career decisions, and the struggle for independence, can be a trying time for anyone. Restrictions on participation for the child with a limb deficiency may become more apparent during adolescence. Most teenagers with a congenital limb deficiency have been adjusting both functionally and emotionally from birth. At this point in their lives, they are part of a social network of friends, realize the support of their families, and have attempted and succeeded at various

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activities in school and the community. They will be dealing with these adolescent issues right alongside their peers, although increased fears concerning dating and social acceptance can be typical at this time, and participation in school athletic activities may be limited. A higher percentage of children and adolescents with congenital limb deficiencies exhibit greater behavioral and emotional problems and lower social competence than their peers without a disability.93 Amputation of a limb during the adolescent years adds quite an emotional burden to a teenager, who must deal with the loss of a body part and the grieving process and may be facing the possibility of death. Added to the physical appearance difficulties are possible side effects such as hair loss from chemotherapy. A teenager who is facing a possible amputation as the result of cancer should be included, if he or she desires, in discussions of treatment options, including surgical options. Obviously, this is not possible if the amputation is the result of sudden trauma. The immediate postoperative concerns and physical therapy interventions for adolescents undergoing an amputation or a limbsparing procedure are similar to those described for school-age children. If an immediate-fit prosthesis is not used, teenagers are more likely to develop edema of their residual limb following surgery. In this case, wrapping of the residual limb or fitting with a shrinker sock should be instituted. Teenagers who sustain a lower extremity amputation are fitted with a prosthesis when the residual limb has stabilized. They should be involved in the fitting of the prosthesis and in deciding on the design of the socket and the type of knee joint and foot to be used. For most teenagers, a large variety of prosthetic options are available. These should be fully discussed with the teenager and parents, and the choice should complement the lifestyle of the user. Both the teenager and his or her family should be cautioned that the prosthesis will not function and will not look exactly like the contralateral limb. Many teenagers with a high above-knee amputation will attempt to ambulate with a prosthesis but may opt for no prosthesis and crutches because ambulation with crutches is faster and more energy efficient. The decision to use or not to use a prosthesis

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should be the child’s and should not be based on society’s idea of the most appropriate physical appearance. Some teenagers use a prosthesis for certain activities and not for others. Advances in microprocessor knee and ankle technology can optimize function in adolescents with complex and higher levels of limb loss. The ultimate outcome is for them to be comfortable with their peers and to interact socially with their peers at school and in the community. The use of prosthetics varies for teenagers with upper limb deficiencies. Those who have become adept with a prosthesis since early childhood probably will continue to use their prosthesis. The teenager who has an upper limb amputation may learn to operate a body-powered above- or below-elbow prosthesis. Microprocessor partial hand and digit prostheses are being developed that offer adolescents grasp and manipulation functions. Examples of these are the i-limb and i-digits (Touch Bionics, Mansfield, MA) and Michelangelo prosthetic hand (Ottobock, Austin, TX). To become functional with the prosthesis requires much practice, and the teenager may opt not to use one. An outcome study assessed the function and quality of life of 489 children with a transverse belowelbow limb deficiency, comparing 321 children who wore a prosthesis and 168 who did not wear a prosthesis. Researchers found small differences between the two groups, but they were not significant enough to meet the definition of a clinically important difference in the Pediatric Quality of Life Inventory.50 One major milestone for teenagers is the acquisition of a driver’s license. Nearly all teenagers with a limb deficiency or amputation can learn to drive. Hand controls can be used for the teenager with bilateral PFFD or with bilateral lower extremity amputation as the result of trauma. For the teenager with a unilateral upper limb deficiency or amputation, minimal adjustments will be necessary. Driving can be done by using the sound hand, or a driving ring can be attached to the steering wheel. The prosthetic terminal device, preferably a hook, slips into the ring to assist with controlling the steering wheel and easily slips out of the ring in emergencies. Driving becomes more difficult for the teenager with bilateral upper limb deficiencies or amputations. A driving ring may be used by the dominant limb. Controls such as light switches or turn signals may need to be moved to the dominant side and within

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reach of the limb or can be operated by the driver’s knee. Unless specifically trained in the area of driver education, physical therapists should assist the teenager and his or her parents to seek information and driver training from a local rehabilitation center. Career and college decisions are also made during adolescence. Some teenagers may work at a part-time job during high school. Most teenagers with limb deficiencies or amputations eventually seek employment. At times, adjustments must be made to a prosthesis, such as a specific terminal device, to assist the young adult in his or her particular career area. Going to college is a true test of independence with self-care skills. Some individuals with bilateral upper limb deficiencies or multiple limb deficiencies will always require some degree of assistance with self-care activities. Toileting, especially wiping after defecation, and dressing, specifically managing underpants and bras, are self-care activities for which it is difficult for anyone with bilateral upper limb deficiencies or short above-elbow amputations to achieve total independence. This does not preclude attending college or independent living, but an aide or other arrangements may be needed. Creativity, experimentation, and talking with other teenagers or adults with limb deficiencies can often produce strategies for accomplishing difficult tasks. Quality of life outcomes for young adults who have survived a childhood bone sarcoma with either an amputation or limb-sparing procedure are very diverse. Some studies report high employment rates, active lifestyles, and marriage for adults who underwent an amputation as a child or adolescent.63,92 However, survivors of childhood bone tumors are more likely to have a physical limitation than those from other groups of childhood cancer, and those survivors with physical limitations are less likely to be employed, married, and/or earning an annual income greater than $20,000.66 The data are conflicting on quality of life outcomes comparing adults who underwent a childhood amputation with those who had a limbsparing procedure for a childhood bone sarcoma.59 With the improvements in prosthetic design that are available as well as the limb-sparing procedures, further research is needed to follow the functional and overall satisfaction of these individuals as adults in society (Box 13.2).

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B O X 1 3 . 2 Interventions:

Child and Caregiver

Communication and Education Across All Three Domains Body Functions and Structures Desensitization techniques Massage Strengthening

Activity Developmental activities training Transfer and gait training Training with prosthetic device for ADLs

Participation Training with prosthetic device for IADLs (school, play, driving, sports, work) Education regarding environmental and prosthetic adaptations for activities and sports

Summary The origin and classification of congenital limb deficiencies and the causes of acquired amputations were reviewed in this chapter. An overview of the medical and surgical management of congenital limb deficiencies and amputations was presented. Treatment of a child with a congenital limb deficiency or amputation is complex and must involve a team of professionals who recognize the impact of various treatment options on the child’s functioning in both home and school environments and ultimately as an independent adult. Careful planning and thoughtful discussions with the family regarding expected outcomes, goals of physical therapy, surgical options, and prosthetic options are necessary. Each child must be assessed as an individual, with consideration given to the child’s age and musculoskeletal development and immediate and longterm functional abilities, the family’s and child’s activity level and lifestyle choices, and prosthetic and physical therapy interventions

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needed to meet the child’s goals. The continued proliferation of prosthetic designs, along with advances in microprocessor technology and materials available to the pediatric population, has opened up many options for recreation and sports, vocation, and self-care, as well as early fitting of infants and toddlers with prostheses.

Case Scenarios on Expert Consult The case scenarios related to this chapter address three patients:

“Becca”: Child With PFFD (Proximal Focal Femoral Deficiency) This case reviews the prosthetic prescription for an infant with a congenital limb deficiency and the physical therapy interventions to facilitate her developmental skills and provision of initial caregiver education. The case study follows her for several years, including a surgical revision for her involved leg and the subsequent prosthetic and physical therapy needs.

“Andrew”: Child With Cancer, Osteosarcoma Right Distal Femur The focus of this case is on the surgical options available for a very young, skeletally immature child with a bony tumor. The rationale for choosing a rotationplasty is discussed as well as the focus of his physical therapy postoperatively. Andrew is followed for several years after his initial diagnosis and surgery to demonstrate the impact of the surgical procedure on his ultimate function and participation in activities with his peers.

“Anthony”: Child With Traumatic Amputation This case scenario focuses on the acute physical therapy intervention of an adolescent with a traumatic amputation and follows his rehabilitation through the fitting of his first prosthesis. Two video cases are also presented. The first describes a teenager who sustained a traumatic mutilating lower extremity injury, and the second shows a preschool aged child with a

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congenital longitudinal tibial deficiency.

References

1. Aitken G.T. Surgical amputation in children. J Bone Joint Surg Am. 1963;45:1735–1741. 2. Aitken G.T. Proximal femoral focal deficiency: definition, classification, and management. In: Proximal femoral focal deficiency: a congenital anomaly. Washington, DC: National Academy of Sciences; 1969. 3. Anderson T.F. Aspects of sports and recreation for the child with a limb deficiency. In: Herring J.A, Birch J.G, eds. The child with a limb deficiency. Rosemont, IL. American Academy of Orthopedic Surgeons; 1998. 4. Akahane T, Shimizu T, Isobe K, Yoshimura Y, Fujioka F, Kato H. Evalua of postoperative general quality of life for patients with osteosarcoma around the knee joint. J Pediatr Orthop B. 2007;16:269–272. 5. American Physical Therapy Association. Guide to physical therapist practice. revised second edition. Alexandria, VA: APTA; 2003. 6. Reference deleted in proofs. 7. Bedard T, Lowry R.B, Sibbald B, Kiefer G.N, Metcalfe A. Congenital limb deficiencies in Alberta-a review of 33 years from the Alberta congenital anomalies surveillance system. Am J Med Genet A. 2015:2599–2609. 8. Beebe K, Song K.J, Ross E, Tuy B, Patterson F, Benevenia J. Functional outcomes after limb-salvage surgery and endoprosthetic reconstruction with an expandable prosthesis: a report of 4 cases. Arch Phys Med Rehabil. 2009;90:1039–1047. 9. Beris A.E, Soucacos P.N, Malizos K.N, Mitsionis G.J, Soucacos P.R. Majo limb replantation in children. Microsurgery. 1994;15:474–478. 10. Buchner M, Zeifang F, Bernd L. Medial gastrocnemius muscle flap in limb-sparing surgery of malignant bone

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tumors of the proximal tibia: mid-term results in 25 patients. Ann Plast Surg. 2003;51:266–272. 11. Burgoyne L.L, Billups C.A, Jiron J.L. Phantom limb pain in young cancer related amputees: recent experience at St Jude Children’s Research Hospital. Clin J Pain. 2012;28(3):222– 225. 12. Butler M.S, Robertson W.W, Rate W, D’Angio G.J, Drummond D.S. Ske sequelae of radiation therapy for malignant tumors. Clin Orthop Rel Res. 1990;251:235–239. 13. Caudill J.S, Arndt C.A. Diagnosis and management of bone malignancy in adolescents. Adolesc Med State Art Rev. 2007;18:62–78. 14. Centers for Disease Control and Prevention. Facts about upper lower limb reduction defects Website. Available at. http://www.cdc.From.gov/ncbddd/birthdefects/ullimbreductiondefects.html. 15. Coulter-O’Berry C. Physical therapy. In: Smith D.G, Michael J.W, Bowker J.H, eds. Atlas of limb amputations and limb deficiencies. ed 3. Rosemont, IL: American Academy of Orthopedic Surgeons; 2004:831– 840. 16. Cummings D.R. Pediatric prosthetics, current trends and future possibilities. Phys Med Rehabil Clin N Am. 2000;11:653–679. 17. Day H.J.B. The ISO/ISPO classification of congenital limb deficiency. Prosthet Orthot Int. 1991;15:67–69. 18. Dillingham T.R, Pezzin L.E, MacKenzie E.J. Limb amputation and limb deficiency: epidemiology and recent trends in the United States. South Med J. 2002;95:875–883. 19. Dormans J.P, Erol B, Nelson C.B. Acquired amputations in children. In: Smith D.G, Michael J.W, Bowker J.H, eds. Atlas of limb amputations and limb deficiencies. ed 3. Rosemont, IL: American Academy of Orthopedic Surgeons; 2004:841– 852. 20. Eckhardt J.J, Kabo J.M, Kelley C.M, Ward W.G, Asavamongkolkul A, W al. Expandable endoprosthesis reconstruction in skeletally

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immature patients with tumors. Clin Orthop Rel Res. 2000;373:51–61. 21.

Ephraim P.L, Dillingham T.R, Sector M, Pezzin L.E, MacKenzie E.J. Epid of limb loss and congenital limb deficiency: a review of the literature. Arch Phys Med Rehabil. 2003;84:747–761. 22. Farnsworth T. The call to arms, overview of upper limb prosthetic options. Active Living, Health and Activity for the O P Community. 2003;12:43–45. 23. Fedorak G.T, Watts H.G, Cuomo A.V, Ballesteros J.P, Grant H.J, Bowen transfer of the proximal part of the fibula for osseous overgrowth in children with congenital or acquired tibial amputation. J Bone Joint Surg Am. 2015;97:574–581. 24. Fowler E, Zernicke R, Setoguchi Y. Energy expenditure during walking by children who have proximal femoral focal deficiency. J Bone Joint Surg Am. 1996;78:1857–1862. 25. Frantz C.H, O’Rahilly R. Congenital skeletal limb deficiencies. J Bone Joint Surg Am. 1961;43:1202–1204. 26. Futani H, Minamizaki T, Nishimoto Y, Abe S, Yabe H, Ueda T. Longterm follow-up after limb salvage in skeletally immature children with a primary malignant tumor of the distal end of the femur. J Bone Joint Surg Am. 2006;88:595–603. 27. Reference deleted in proofs. 28. Gasper N, Hawkins D.S, Dirksen U, Lewis I.J, Ferrari S, et al. Ewing sarcoma: current management and future approaches through collaboration. J Clin Oncol. 2015;33:3036–3048. 29. Geil M.D, CoulterO’Berry C, Schmitz M, Heriza C. Crawling kinematics in an early knee protocol for pediatric prosthetic prescription. J Prosthet Orthot. 2013;25(1):22–29. 30. Geil M.D, Coulter C.P. Analysis of locomotor adaptations in young children with limb loss in an early knee prescription protocol. Prosthet Orthot Int. 2014;38(1):54–61. 31. Gillespie R. Principles of amputation surgery in children with longitudinal deficiencies of the femur. Clin Orthop Rel

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Res. 1990;256:29–38. 32. Gillespie R. Classification of congenital abnormalities of the femur. In: Herring J.A, Birch J.G, eds. The child with a limb deficiency. Rosemont, IL: American Academy of Orthopedic Surgeons; 1998:63–72. 33. Reference deleted in proofs. 34. Ginsberg J.P, Rai S.N, Carlson C.A, Meadows A.T, Hinds P.S, Spearing al. A comparative analysis of functional outcomes in adolescents and young adults with lower-extremity bone sarcoma. Pediatr Blood Cancer. 2007;49:964–969. 35. Gold N.B, Westgate M.N, Holmes L.B. Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A. 2011:1225–1235. 36. Goorin A.M, Schwartzentruber D.J, Devidas M, Gebhardt M.C, Ayala A al. Presurgical chemotherapy compared with immediate surgery and adjuvant chemotherapy for nonmetastatic osteosarcoma: pediatric oncology group study pog-8651. J Clin Oncol. 2003;21:1574–1580. 37. Gorlick R, Bielack S, Teot L, et al. Osteosarcoma: biology, diagnosis, treatment, and remaining challenges. In: Pizzo P.A, Poplack D.G, eds. Principles and practice of pediatric oncology. Philadelphia: Lippincott Williams Wilkins; 2011:1015–1044. 38. Grimer R.J, Carter S.R, Pynsent P.B. Cost-effectiveness of limb salvage for bone tumors. J Bone Joint Surg Br. 1997;79:558–561. 39. Gupta A.A, Pappo A, Saunders N, Hopyan S, Ferguson P, Wunder J, et al. Clinical outcome of children and adults with localized Ewing sarcoma. Cancer. 2010:3189–3194. 40. Gupta S.K, Alassaf A, Harrop A.R, Kiefer G.N. Principles of rotationplasty. J Am Acad Orthop Surg. 2012(20):657–667. 41. Haduong J.H, Martin A.A, Skapek S.X, Mascarenhas L. Sarcomas. Clin N Am. 2015;62:179–200. 42. Reference deleted in proofs.

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43. Hawkins D.S, Bolling T, Dubois S, et al. Ewing sarcoma. In: Pizzo P.A, Poplack D.G, eds. Principles and practice of pediatric oncology. Philadelphia: Lippincott Williams Wilkins; 2011:987–1014. 44. Heare T, Hensley M.A, Dell’Orfano S. Bone tumors: osteosarcoma and Ewing’s sarcoma. Curr Opin Pediatr. 2009;21:365–372. 45. Herring J.A. Growth and development. In: Herring J.A, ed. Tachdjian’s pediatric orthopedics. ed 3. Philadelphia: WB Saunders; 2002:3–21. 46. Herring J.A. Limb deficiencies. In: Herring J.A, ed. Tachdjian’s pediatric orthopedics. ed 3. Philadelphia: WB Saunders; 2002:1745– 1810. 47. Hobusch G.M, Lang N, Schuh R, Windhager R, Hofstaetter J.G. Do patients with Ewing’s sarcoma continue with sports activities after limb salvage surgery of the lower extremity? Clin Orthop Rel Res. 2015;473:839–846. 48. Hostetler S.G, Schwartz L, Shields B.J, Xiang H, Smith G.A. Characterist of pediatric traumatic amputations treated in hospital emergency departments: United States, 19902002. Pediatrics. 2005;116:667–674. 49. Reference deleted in proofs. 50. James M.A, Bagley A.M, Brasington K, Lutz C, McConnell S, Molitor F. of prostheses on function and quality of life for children with unilateral congenital below-the-elbow deficiency. J Bone Joint Surg Am. 2006;88:2356–2365. 51. Krajbich J.I, Bochmann D. Van Nes rotation-plasty in tumor surgery. In: Bowker J.H, Michael J.W, eds. Atlas of limb prosthetics: surgical, prosthetic, and rehabilitation principles. ed 2. St. Louis: Mosby; 1992:885–899. 52. Krajbich J.L. Rotationplasty in the management of proximal femoral focal deficiency. In: Herring J.A, Birch J.G, eds. The child with a limb deficiency. Rosemont, IL: American Academy of Orthopedic Surgeons; 1998:87.

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53. Kun L.E. General principles of radiation oncology. In: Pizzo P.A, Poplack D.G, eds. Principles and practice of pediatric oncology. Philadelphia: Lippincott Williams Wilkins; 2011:406–425. 54. Lang N, Hobusch G.M, Funovics P.T, Windhager R, Hofstaetter J.G. Wh sports activity levels are achieved in patients with modular tumor endoprostheses of osteosarcoma about the knee? Clin Orthop Rel Res. 2015;473:847–854. 55. Le J.T, Scott-Weyward P.R. Pediatric limb deficiencies and amputations. Phys Med Rehabil Clin N Am. 2015;26:95–108. 56. Loder R.T. Demographics of traumatic amputations in children. J Bone Joint Surg Am. 2004;86:923–928. 57. Marchese V.G, Rai S.N, Carlson C.A, Hinds P.S, Spearing E.M, Zhang L al. Assessing functional mobility in survivors of lowerextremity sarcoma: reliability and validity of a new assessment tool. Pediatr Blood Cancer. 2007;49:183–189. 58. Marchese V.G, Spearing E, Callaway L, Rai S.N, Zhang L, Hinds P.S, et al. Relationships among range of motion, functional mobility, and quality of life in children and adolescents after limb-sparing surgery for lower-extremity sarcoma. Peditr Phys Ther. 2006;18:238–244. 59. Mason G.E, Aung L, Gall S, Meyers P.A, Butler R, Krug S, et al. Quality of life following amputation or limb preservation in patients with lower extremity bone sarcoma. Front Oncol. 2013;3:1–6. 60. McGuirk C.K, Westgate M.N, Holmes L.B. Limb deficiencies in the newborn infants. Pediatrics. 2001;108:E64. 61. Melzack R, Israel R, Lacroix R, Schultz G. Phantom limbs in people with congenital deficiency or amputation in early childhood. Brain. 1997;120:1603–1620. 62. Morrissy R.T, Giavedoni B.J, Coulter-O’Berry C. The limbdeficient child. In: Morrissy R.T, Weinstein S.L, eds. Lovell Winter pediatric orthopedics. ed 6. Philadelphia: Lippincott Williams Wilkins; 2006:1333–1382. 63.

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Nagarajan R, Neglia J.P, Clohisy D.R, Yasui Y, Greenberg M, Hudson M al. Education, employment, insurance, and marital status among 694 survivors of pediatric lower extremity bone tumors. Cancer. 2003;97:2554–2564. 64.

Nagarajan R, Clohisy D.R, Neglia J.P, Yasui Y, Mitby P.A, Sklar C, et al. Function and quality-of-life of survivors of pelvic and lower extremity osteosarcoma and Ewing’s sarcoma: the childhood cancer survivor study. Br J Cancer. 2004;91(11):1858–1865. 65. Neel M.D, Wilkins R.M, Rao B.N, Kelly C.M. Early multicenter experience with a noninvasive expandable prosthesis. Clin Orthop Rel Res. 2003;415:72–81. 66. Ness K.K, Hudson M.M, Ginsberg J.P, Nagarajan R, Kaste S.C, Marina N al. Physical performance limitations in the childhood cancer survivor study cohort. J Clin Oncol. 2009;27:2382–2389. 67. Ness K.K, Neel M.D, Kaste S.C, Billips C.A, Marchese V.G, Rao B.N, Da comparison of function after limb salvage with noninvasive expandable or modular prostheses in children. Eur J Cancer. 2014;50:3212–3220. 68. Oppenheim W.L, Setoguchi Y, Fowler E. Overview and comparison of Syme amputation and knee fusion with the Van Nesrotationplasty in proximal femoral focal deficiency. In: Herring J.A, Birch J.G, eds. The child with a limb deficiency. Rosemont, IL: American Academy of Orthopedic Surgeons; 1998:73–86. 69. Reference deleted in proofs. 70. Pardasaney P.K, Sullivan P.E, Portney L.G, Mankin H.J. Advantage of limb salvage over amputation in proximal lower extremity tumors. Clin Orthop Rel Res. 2006;444:201–208. 71. Parente M.A, Geil M. In the future: surgical and educational advances and challenges. In: Carroll K, Edelstein J.E, eds. Prosthetics and patient management: a comprehensive clinical approach. Thorofare, NJ: Slack Publishing; 2006:233–241.

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72. Patton J.G. Occupational therapy. In: Smith D.G, Michael J.W, Bowker J.H, eds. Atlas of limb amputations and limb deficiencies. ed 3. Rosemont, IL: American Academy of Orthopedic Surgeons; 2004:813– 830. 73. Pruitt S.D, Varni J.W, Setoguchi Y. Functional status in children with limb deficiency: development and initial validation of an outcome measure. Arch Phys Med Rehabil. 1996;77:1233–1238. 74. Pruitt S.D, Varni J.W, Seid M, Setoguchi Y. Functional status in limb deficiency: development of an outcome measure for preschool children. Arch Phys Med Rehail. 1998;79:405–411. 75. Pruitt S.D, Seid M, Varni J.W, Setoguchi Y. Toddlers with limb deficiency: conceptual basis and initial application of a functional status outcome measure. Arch Phys Med Rehabil. 1999;80:819–824. 76. Radocy R. Prosthetic adaptations in competitive sports and recreation. In: Smith D.G, Michael J.W, Bowker J.H, eds. Atlas of limb amputations and limb deficiencies. ed 3. Rosemont, IL: American Academy of Orthopedic Surgeons; 2004:327– 338. 77. Rothgangel A, Braun S, deWitte L, Beurskens A, Smeets R. Developmen of a clinical framework for mirror therapy in patients with phantom limb pain: an evidence-based practice approach. Pain Pract. 2015;16:1–13. 78. Reference deleted in proofs. 79. Robinson K.P, Branemark R, Ward D.A. Future developments: osseointegration in transfemoral amputees. In: Smith D.G, Michael J.W, Bowker J.H, eds. Atlas of limb amputations and limb deficiencies. ed 3. Rosemont, IL: American Academy of Orthopedic Surgeons; 2004:841– 852. 80. Robitaille J, Carmichael S.L, Shaw G.M, Olney R.S. Maternal nutrient intake and risks for transverse and longitudinal limb deficiencies: data from the national birth defects prevention study, 1997-2003. Birth Defects Res A Clin Mol Teratol. 2009;85:773–779.

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81. Rougraff B.T, Simon M.A, Kneisel J.S. Limb salvage compared with amputation for osteosarcoma of the distal end of the femur: a long-term oncological, functional and quality of life study. J Bone Joint Surg Am. 1994;163:1171– 1175. 82. Sammer D.M, Chung K.C. Congenital hand differences: embryology and classification. Hand Clin. 2009;25:151–156. 83. Shaperman J, Landsberger S.E, Setoguchi Y. Early upper extremity prosthesis fitting: when and what do we fit. J Prosthet Orthot. 2003;15:11–17. 84. Shimizu H, Yokoyama S, Asahara H. Growth and differentiation of the developing limb bud from the perspective of chondrogenesis. Dev Growth Differ. 2007;49:449–454. 85. Soldado F, Kozin S.H. Bony overgrowth in children after amputation. J Pediatr Rehabil Med. 2009;2:235–239. 86. Sparreboom A, Evans W.E, Baker S.D. Chemotherapy in the pediatric patient. In: Orkin S.H, Fisher D.E, Look A.T, et al., eds. Oncology of infancy childhood. Philadelphia: Saunders Elsevier; 2007:175–207. 87. Squitieri L, Reichert H, Kim H.M, Steggerda J, Chung K.C. Patterns of surgical care and health disparities of treating finger amputation injuries in the United States. J Am Coll Surg. 2011;213:475–485. 88. Reference deleted in proofs. 89. Reference deleted in proofs. 90. Sutherland D.H. Gait disorders in childhood and adolescence. Baltimore: Williams Wilkins; 1984:14–27. 91. Swanson A.B, Barsky A.J, Entin M.A. Classification of limb malformations on the basis of embryological failures. Surg Clin N Am. 1968;48:1169–1179. 92. Tebbi C.K. Psychological effects of amputation in sarcoma. In: Humphrey G.B, Koops H.S, Molenaar W.M, Postma A, eds in adolescents and young adults. Boston: Kluwer Academic; 1993:39–44. 93. Varni J.W, Setoguchi Y. Screening for behavioral and emotional problems in children and adolescents with

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congenital or acquired limb deficiencies. Am J Dis Child. 1992;146:103–107. 94. Wilkins R.M, Soubeiran A. The Phoenix expandable prosthesis: early American experience. Clin Orthop Rel Res. 2001;382:51–58.

Suggested Readings Background Gold N.B, Westgate M.N, Holmes L.B. Anatomic and etiological classification of congenital limb deficiencies. Am J Med Genet A. 2011;155A:1225–1235. Haduong J.H, Martin A.A, Skapek S.X, Mascarenhas L. Sarcomas. Pediatr Clin N Am. 2015;62:179–200. Hawkins D.S, Bolling T, Dubois S, et al. Ewing sarcoma. In: Pizzo P.A, Poplack D.G, eds. Principles and practice of pediatric oncology. Philadelphia: Lippincott Williams Wilkins; 2011:987– 1014. Isakaff M.S, Bielack S.S, Meltzer P, Gorlick R. Osteosarcoma: current treatment and a collaborative pathway to success. J Clin Oncol. 2015;33:3029–3036. Sammer D.M, Chung K.C. Congenital hand differences: embryology and classification. Hand Clin. 2009;25:151–156.

Foreground Geil M.D, Coulter C.P. Analysis of locomotor adaptations in young children with limb loss in an early knee prescription protocol. Prosthet Orthot Int. 2014;38(1):54–56. Gupta S.K, Alassaf A, Harrop A.R, Kiefer G.N. Principles of rotationplasty. J Am Acad Orthop Surg. 2012;20:657–667. James M.A, Bagley A.M, Brasington K, Lutz C, McConnell S, Molitor F. Impact of prostheses on function and quality of life for children with unilateral congenital below-the-elbow deficiency. J Bone Joint Surg Am. 2006;88:2356–2365. Lang N, Hobusch G.M, Funovics P.T, Windhager R, Hofstaetter J.G. What sports activity levels are achieved in patients with modular tumor endoprostheses of osteosarcoma about the knee? Clin Orthop Rel Res. 2015;473:847–854. Le J.T, Scott-Weyward P.R. Pediatric limb deficiencies and

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amputations. Phys Med Rehabil Clin N Am. 2015;26:95–108. Marchese V.G, Rai S.N, Carlson C.A, Hinds P.S, Spearing E.M, Zhang L, et al. Assessing functional mobility in survivors of lower-extremity sarcoma: reliability and validity of a new assessment tool. Pediatr Blood Cancer. 2007;49:183–189. Ness K.K, Neel M.D, Kaste S.C, Billips C.A, Marchese V.G, Rao B.N, Daw N.C. A comparison of function after limb salvage with non-invasive expandable or modular prostheses in children. Eur J Cancer. 2014;50:3212–3220. Ottaviani G, Robert R.S, Huh W.W, PallaS Jaffe N. Sociooccupational and physical outcomes more than 20 years after the diagnosis of osteosarcoma in children and adolescents. Cancer. 2013;119:3727–3736. Stokke J, Sung L, Gupta A, Lindberg A, Rosenberg A.R. Systematic review and meta-analysis of objective and subjective quality of life among pediatric, adolescent, and young adult bone tumor survivors. Pediatr Blood Cancer. 2015(62):1616–1629.

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Orthopedic Conditions Mary Wills Jesse

Physical therapists working with the pediatric population may not frequently intervene with patients with primary orthopedic diagnosis; however, general knowledge of orthopedics is important throughout the intervention process. This becomes even more challenging in the pediatric population as the musculoskeletal system grows and changes with age. What may be considered “typical” at one age may be significantly atypical at another. Additionally, as physical therapist practice becomes more autonomous, we are challenged to identify problems that may be outside the scope of our practice and make appropriate referrals for care. We have a responsibility as therapists to have the knowledge base to determine these conditions in children. Space in this chapter will not allow an exhaustive review of all the orthopedic conditions that affect children. Many references are provided throughout the text for further study, however. This chapter presents information on conditions commonly seen; specific areas of concern to the physical therapist will be highlighted to provide a basic framework for the practicing clinician. Background and foreground information will be presented together in each of the following condition-specific sections.

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Torsional Conditions (In-Toeing and Out-Toeing) In-toeing and out-toeing are visible conditions in children that often raise much concern for parents and family members. They are also a common reason for elective referral of a child to an orthopedist. Even though these rotational conditions usually do not require any intervention, concern often escalates with comments from neighbors, teachers, and strangers on the street: “Why does your child walk funny?” This group of children has been described by Dr. Mercer Rang as “the worried well,” a phrase that indicates the strong concern of the family and others involved with the child over alignment conditions that are often part of the spectrum of normal musculoskeletal development. Differing opinions exist on how to define torsional conditions, how to measure them, and especially how to intervene for correction, or if they should receive intervention at all. An understanding of the normal growth and development of the lower extremity is imperative in evaluating a child’s rotational alignment as normal changes occur during the growth process. Further description of the normal process may be found in Chapter 5. Interventions, such as orthotic shoes, casting, and bracing, have previously been used in early childhood without success and in many of these cases, unnecessarily because the child’s positioning would have corrected spontaneously over time. Often, rotational deformities are seen in typically developing children and rarely persist into adolescence. Knowledge of normal growth and development will assist therapists in making better clinical judgments as well as educating parents and family members of whether there is a need for concern. Education should also be given to the caregivers about the normal changes in alignment to help them monitor the child for changes that are occurring abnormally. As always, neuromuscular dysfunctions or other serious conditions should be ruled out. In-toeing and out-toeing are both clinical symptoms and do not define the etiology or provide a diagnosis of the underlying problem. By definition, in-toeing is a rotational variation of the lower extremity alignment where the feet or toes point toward the

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midline during gait. Out-toeing is a rotational variation of the lower extremity alignment where the feet or toes point away from the midline during gait. Through clinical history and physical evaluation, the cause of the rotation can be determined.

Clinical History A specific history provides a wealth of information regarding possible causative factors and indications for possible intervention. Specific information obtained may also direct the examiner to expand the examination to rule out other, more severe conditions that may initially produce a chief complaint of in-toeing or outtoeing. Relevant information to be elicited from the parents includes the following: 1. Birth history. Was the infant full-term or premature? Was it a vaginal or cesarean delivery? Was oligohydramnios (deficiency of amniotic fluid) present? How many times has the mother been pregnant? What is the birth order of the parent? Many of the torsional problems seen in infants are “packaging” defects (i.e., caused by a restricted intrauterine environment). It is easy to imagine that an infant’s lower limbs may “grow” into a particular position as one visualizes a full-term 9-pound fetus in the womb of a gravida 1, para 1 mother. 2. Age. At what age was the in-toeing or out-toeing noted? Has it improved or worsened since first noted? Was any previous intervention provided? For the walking child, at what age did the child start to walk independently? In the differential diagnosis the index of suspicion should be increased when a child has a history or prematurity, difficult birth, or delayed motor milestones or has significant in-toeing or out-toeing that is worsening with time or is very asymmetrical. Children with mild spastic diplegia may have in-toeing, and children with Duchenne muscular dystrophy may have out-toeing and flat feet. Conditions such as these must be ruled out.

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FIG. 14.1 (A–B) The W-sitting or television-sitting

position with the legs externally rotated. (C–D) A similar position with the feet tucked under the buttocks accentuating the internal tibial torsion as well as metatarsus adductus. (From Harris E: The intoeing child: etiology, prognosis, and current treatment options. Clin Podiatr Med Surg 30:531-65, 2013.)

3. Family history. In many cases, a positive family history for intoeing or out-toeing is reported, and this should be noted, especially if intervention was undertaken for other family member(s). 4. Sleeping and sitting positions. The natural positions that a child lies and sits also provide information. Sleeping prone and sitting on feet encourages internal tibial torsion.186 Sitting in a W-sit position may encourage the persistence of femoral anteversion (Fig. 14.1).

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Torsional Profile The torsional profile is a composite of measurements of the lower extremities.202 It differentiates thigh, leg, and foot variations as the anatomic basis of torsional deformity. It also documents the severity of the abnormality. Each segment needs to be evaluated to determine the cause of the abnormality so that intervention can be appropriately prescribed. Rotational alignment of the lower extremity is determined by the alignment of the foot, the rotation of the tibia in relation to the transcondylar axis of the femur (tibial torsion), and the rotation of the neck of the femur in relation to the transcondylar axis of the femur (femoral version). The examination usually begins with clinical observation of the child’s gait pattern and progresses to evaluation from proximal to distal body segments.42 The torsional profile generally consists of six measurements with normative data available for the first five variables. These are: foot progression angle (FPA), lateral hip rotation (LHR), medial hip rotation (MHR), thigh-foot angle (TFA), transmalleolar axis (TMA), and forefoot alignment. Also added to this description are trochanteric prominence angle test as an alternate way to examine femoral version and flexibility of forefoot to determine the rigidity of the position. Table 14.1 gives a description of these components and the method of measuring each.

Foot Progression Angle The FPA, or “the angle of gait,” is defined as the angular difference between the axis of the foot and the line of progression during gait.201 The child is observed while walking, and a value is assigned to the angle of both the right and the left foot. This is a subjective determination and represents an average of the angle noted on multiple steps. Various footprint techniques can be used to measure FPA, but these are time consuming and may not be practical in the clinical situation. In-toeing is expressed as a negative value, and out-toeing is expressed as a positive value. This angle gives an overall view of the degree of in-toeing of out-toeing in the walking child. The FPA can also be examined in supported stance for the child who is not yet walking independently. FPA is variable during

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infancy. During childhood and adult life, it shows little change, with a mean of +10° and a normal range of −3° to +20°.202 In-toeing of −5° to −10° is considered mild, −10° to −15° is considered moderate, and more than −15° is considered severe.201 When a child toes in or toes out, the condition is usually bilateral, but occasionally one sees “windswept” lower extremities, with one limb toeing in and the other limb toeing out. Normative values can be found in Fig. 14.2. Although this gives a composite view of the lower extremity, measurement of each segment is recommended because compensations may occur that affect the FPA. For example, significant femoral anteversion at the hip may be balanced by external tibial torsion with a straight foot (no metatarsus adductus or calcaneovalgus). The foot progression angle would be 0°/0° (right/left) with the feet pointing straight ahead even though abnormalities are present.

Hip Rotation In order to correctly explain clinical findings at the hip, terminology in the literature should be understood. Version describes the position of the femoral head in the frontal plane. If the head lies anterior to the plane, it is anteverted, with the average angle being 14° to 20°.34 A head that is positioned posterior to this normal average angle is retroverted.34 Torsion describes the osseous position of the bone in its longitudinal axis, or “twist.” It is measured by the angle formed at the intersection of the axis of the head and neck and the axis of the femoral condyles.34 The difference could also be explained by femoral torsion being the osseous “twist” between the upper femur and lower femur and femoral version being the momentary position of the femur in the acetabulum or the relative position of the acetabulum on the pelvis.77 The measurement of hip internal and external rotation will include both torsion between the femoral head and femur and also the inclination of the femoral head to the acetabulum (version).113 Fig. 14.3 demonstrates these differences. Hip rotation range of motion (ROM) is measured most accurately in the prone position, with the hip in a position of neutral flexion/extension and knee flexed to 90°. Femoral anteversion will

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be indicated by an increase in internal rotation compared to external rotation. If the differences between internal and external rotation measurements are 45° or more, this indicates an abnormally high anteversion angle at the hip.73 Femoral retroversion is indicated by increased external rotation compared to very little internal rotation. An abnormally low anteversion angle would be indicated by the external rotation being at least 50° higher than the internal rotation measurement.73 This is not an accurate test in children below 3 years of age because of the limitation in internal rotation by factors extrinsic to the hip joint.73 Normative values can be found in Figs. 14.4 to 14.6. TABLE 14.1 Measurements for Torsional Profile

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MTA, metatarsus adductus; ROM, range of motion. Foot progression angle. Redrawn from Kliegman RM, editor: Practical strategies in pediatric diagnosis and therapy. Philadelphia, Saunders, 2004. Hip rotation ROM. From Kliegman RM, editor: Practical strategies in pediatric diagnosis and therapy. Philadelphia, Saunders, 2004. Trochanteric prominence angle test. From Harris E: The intoeing child: etiology, prognosis, and current treatment options. Clin Podiatr Med Surg 30:531-565, 2013. Thigh-foot angle. From Smith BG: Lower extremity disorders in children and adolescents. Pediatr Rev 30:287-294, 2009. Transmalleolar angle: prone. From Kwon OY, Tuttle LJ, Commean PK, et al.: Reliability and validity of measures of hammer toe deformity angle and tibial torsion. Foot (Edinb) 19:149-155, 2009. Heel bisector method. From Jones S, Khandekar S, Tolessa E: Normal variants of the lower limbs in pediatric orthopedics. Int J of Clin Med 4:12-17, 2013. Flexibility of forefoot. From Rosenfeld SB: Approach to the child with in-toeing. In: UpToDate, Phillips W (Section Ed),Torchia MM (Deputy Ed), UpToDate, Waltham, MA (http://www.uptodate.com/contents/approach-to-the-child-with-in-toeing? source=machineLearning&search=phillips+W%2C+Torchina+MM+intoeing&selectedTitle=2%7E150&sectionRank=1&anchor=H21546646#H21546681 Accessed on January 7, 2016).

Another way to clinically examine femoral neck anteversion is the trochanteric prominence angle test (TPAT).180 This test is also known as the Ryder test or the Craig test. A child lies prone. The examiner stands on the contralateral side and uses the left hand to palpate the greater trochanter while the right hand internally

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rotates the hip, with the patient’s knee flexed to 90°. At the point of maximum trochanter prominence, the femoral neck is assumed to be horizontal. If the tibia is externally rotated, this corresponds to an antetorsion value; if it is internally rotated, it corresponds to a retrotorsion value. Reliability of this method has been questioned.135,234 When the hip is in anteversion (or “anteverted”) because of the femoral head being positioned on the frontal plane, the patient will usually have more hip medial rotation than lateral rotation ROM, assuming no soft tissue tightness. If hip medial rotation is measured at 70° and lateral rotation is 25°, for example, the child is said to have femoral anteversion (FA) and may in-toe when walking (Fig. 14.7). In retroversion the femoral head is positioned posterior to the frontal plane when the knee is aligned straight ahead, and the patient will have greater lateral rotation range. These describe positions in the child who matures without neurologic disorders such as cerebral palsy. The neonatal biomechanics and typical skeletal maturational changes in the child are presented in greater detail in Chapter 5.

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FIG. 14.2 Foot progression angle. Mean values, plus

or minus two standard deviations for each of the 22 age groups. The solid lines show the mean changes with age; the shaded areas, the normal ranges; the solid blue circles, the mean measurements for the different age groups; and the solid black circles, plus or minus two standard deviations for the same mean measurements. (Redrawn from Staheli LT, Corbett M, Wyss C, et al.: Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am 67:39-47, 1985.)

Thigh-Foot Angle The TFA, transmalleolar angle, and FPA are methods used to measure tibial torsion. The TFA is evaluated by placing the child prone, flexing the knee to 90°, and then measuring the angle of the long axis of the foot against the axis of the thigh.113,201 If the line of the heel points toward the midline relative to the thigh, an internal torsion is present and is given a negative value. If the line of the heel points away from the midline relative to the thigh, external torsion is present and is given a positive value.201 Changes in these values occur normally with development; from the middle of childhood on, the mean angle remains approximately 10°.202 Normative values are shown in Fig. 14.8.

Transmalleolar Axis The transmalleolar angle may be preferred over the thigh-foot angle because hindfoot varus or valgus and foot adduction or abduction will not affect results.101 The TMA-thigh angle can be measured in the same position as the thigh-foot angle. Measurement is made between the angle of the line bisecting the thigh and the line that bisects the malleoli on the plantar surface of the foot. Normative values are in Fig. 14.9. Another method for the TMA has the patient seated with knee flexed and leg hanging from the edge of the table with the thigh directly in front of the hip joint and heels against a flat vertical surface.203 With the foot held in neutral position, the medial malleolus is held between the thumb and index finger and the center point is marked. The lateral malleolus is marked in a similar

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manner. With the heel resting comfortably against the back wall of the platform, measurements are made of the distance between the marks over the medial malleolus and the back wall (A) and the distance between the marks over the lateral malleolus and the back wall (B). The difference between these two measurements is then calculated (A−B). The intermalleolar distance is measured (width of the ankle between malleoli). Using the grid established by Staheli and Engel, the TMA can be established.203 This method demonstrates that the TMA angle averages about 5° of external rotation during the first year, 10° during midchildhood and 14° in older children and adults.203 Normative data and a conversion grid can be found in Figs. 14.10 and 14.11. Others have measured the TMA by the footprint method. In this test the patient sits with his hip and knee at 90° of flexion with the hip in neutral rotation and the tibial tubercle facing forward. The foot is set on a piece of lined paper so that the lines are parallel to the knee axis. The footprint is traced, and two marks are made vertically below the centers of the malleoli. A line drawn between this line and any line on the paper will provide the TMA.80

Foot Alignment Foot alignment is best documented using the Bleck heel bisector method.38 The heel bisector line is measured with the child prone with the knee flexed and ankle dorsiflexed so that the plantar surface of the foot is parallel to the ceiling. A line is visualized parallel to the heel and extended distally to the toes. A normal heel bisector line goes through the second toe. The line passes more laterally in those with metatarsus adductus (medial deviation of the forefoot). Also, flexibility of the foot position should be determined by applying lateral force to the great toe and attempting to reduce the heel bisector line back to the second toe. The degree of metatarsus adductus can be graded as (I) flexible with the ability to correct beyond midline, (II) moderately flexible with the ability to correct to midline, or (III) severe with the inability to achieve midline.18 Radiographs may be used to evaluate the position of the foot but are not considered imperative and, in some cases, are difficult to reproduce.95 The age and flexibility of the deformity are considered

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better predictors of outcome although the radiologic examination may help determine the presence of complex deformities or the presence of rearfoot compensation.95

In-Toeing Although in-toeing is a common problem that causes parents to seek medical care, very few require medical intervention. A study of 202 children who were referred to a pediatric orthopedic clinic found that none of these children (median age of 4 years) had significant pathology.17 Another study of 720 children below the age of 8 years referred for in-toeing found only one required an osteotomy.110 The components that may contribute to in-toeing are femoral anteversion, internal tibial torsion, and metatarsus adductus (Table 14.2).

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FIG. 14.3 Femoral version and torsion.

(From Effgen SK,

editor: Meeting the physical therapy needs of children. Philadelphia, FA Davis, 2005.)

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FIG. 14.4 Lateral rotation of the hip in male and female

subjects combined. Mean values, plus or minus two standard deviations for each of the 22 age groups. The solid lines show the mean changes with age; the shaded areas, the normal ranges; the solid blue circles, the mean measurements for the different age groups; and the solid black circles, plus or minus two standard deviations for the same mean measurements. (Redrawn from Staheli LT, Corbett M, Wyss C, et al.: Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am 67:39-47, 1985.)

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FIG. 14.5 Medial rotation of the hip in female subjects.

Mean values, plus or minus two standard deviations for each of the 22 age groups. The solid lines show the mean changes with age; the shaded areas, the normal ranges; the solid blue circles, the mean measurements for the different age groups; and the solid black circles, plus or minus two standard deviations for the same mean measurements. (Redrawn from Staheli LT, Corbett M, Wyss C, et al.: Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am 67:39-47, 1985.)

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FIG. 14.6 Medial rotation of the hip in male subjects.

Femoral Antetorsion and Anteversion One specific cause of in-toeing is FA. Although most of these cases will normalize spontaneously by age 8 years,70 some cases require medical attention. Neurologically typical children are likely to spontaneously correct while those with neurologic abnormalities have a lower incidence of spontaneous correction.77 Abnormal antetorsion is more frequently seen in females and also has been found to possibly have a genetic component because it seems to run in some families.77 The history of the onset is generally an observation of the child’s

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gait being normal until age 2 years. At that time the family notices the in-toeing. This observation would go along with the changes occurring in the child’s gait; hip rotation in extension is changing from relative external rotation to internal rotation, which allows the abnormal FA to be noticed.77 The child also favors the W-sitting position as seen in Fig. 14.1. Measurement of the abnormality will be achieved through completion of the torsional profile. Internal rotation measuring between 70° and 90° is evidence of femoral torsion.174 In an infant, tightness in the hip external rotation muscles and capsular ligaments results in a laterally rotated position, masking the femoral anteversion. The tightness of the hip soft tissues gradually stretches out, and the true anteversion of the femur becomes apparent. This process is often described incorrectly as “femoral anteversion increases”; the amount of femoral version is actually decreasing but is more easily visualized because the muscle tightness of the external rotators is decreasing. The FA becomes increasingly more apparent clinically as the child approaches 5 to 6 years of age, with this decrease in soft tissue tightness. Studies have shown a gradual decrease in FA with age: 40° at birth to between 15° and 20° by 8 to 10 years of age.222 Femoral antetorsion is mild if internal hip rotation is 70° to 80°, moderate if 80° to 90°, and severe if 90° plus in childhood.201 By midchildhood, the femoral head and neck have usually assumed a relatively more neutral position in relationship to the femoral shaft, and children typically have approximately equal amounts of hip medial and lateral rotation. Clinical measurement of rotation underestimates the true value of the medial twist of the femur that would be measured by computed tomography (CT) scan by 10° to 15°.208 Therefore radiographic measurement may need to be pursued in cases that do not resolve spontaneously. Femoral and tibial torsions are generally measured on axial CT images. In consideration of dosages of radiation, lowdose simultaneous perpendicular biplanar radiography scanners and magnetic resonance imaging are options that are now being used.118,179

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FIG. 14.7 In the femur, version is the angular

difference between the transcondylar axis of the knee (the horizontal line in this drawing) and the axis of the femoral neck. These two lines form an angle and document whether the femur is in anteversion or retroversion. (A) Normal anteversion: with this small amount of anteversion, the individual can walk comfortably with the foot pointed straight ahead (i.e., a neutral angle of foot progression). (B) Excessive anteversion with in-toeing: when a large amount of anteversion is present, the individual must internally rotate the femur to seat the femoral head in the acetabulum and achieve improved joint congruity. This results in a negative foot progression angle, and the foot is pointed in during gait (in-toeing). (C) Retroversion: in this drawing, significant reduction can be seen in the angle formed between the two axes, depicting retroversion. If this were excessive, the individual would need to externally rotate the femur to seat the femoral head in the acetabulum and would have a positive angle of foot progression (outtoeing). (From Neumann DA: Kinesiology of the musculoskeletal system: foundations in rehabilitation. 2nd ed. St. Louis, Mosby; 2010.)

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FIG. 14.8 Thigh-foot angle. Mean values, plus or

minus two standard deviations for each of the 22 age groups. The solid lines show the mean changes with age; the shaded areas, the normal ranges; the solid blue circles, the mean measurements for the different age groups; and the solid black circles, plus or minus two standard deviations for the same mean measurements. (Redrawn from Staheli LT, Corbett M, Wyss C, et al.: Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am 67:39-47, 1985.)

Many types of interventions have been tried to correct FA, including braces, twister cables, shoe modifications, or orthotic devices. These have not been proven to be effective.218 Anecdotal findings may note the efficacy of these conservative methods, although spontaneous improvement occurs naturally in most cases. One reasonable recommendation is to have the child avoid Wsitting (reverse tailor sitting) and to encourage tailor sitting in maximum hip lateral rotation. If significant FA is still present at age 10 to 14 years and is resulting in cosmetically unappealing intoeing, surgical correction in the form of femoral derotation osteotomies may be considered, although the possible risks of the operation may outweigh the benefits of realignment. In the adult,

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FA does not cause degenerative arthritis and rarely causes any disability.201 Surgical intervention may be warranted and has proven successful in children with severe symptomatic torsional malalignment with excessive FA or external tibial torsion (ETT) associated with patellofemoral pathology when conservative intervention has failed.204

Internal Tibial Torsion Internal tibial torsion (ITT) in infancy often is not apparent to the parents or the casual examiner because the hips have external rotation muscle contractures and the infant’s legs tend to assume abducted and externally rotated position. The ITT may become noticeable only as the hip contractures stretch out, resulting in a more neutral position of the hip, especially when the child begins to walk independently. One interesting note is the effect of in-toeing with sprinting. Fuchs and Staheli62 studied high school students (50 sprinters and 50 control subjects) and found that the sprinters tended to have low normal thigh-foot angles and in-toed when sprinting.

FIG. 14.9 Transmalleolar axis thigh angle. Mean

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values, plus or minus two standard deviations for each of the 22 age groups. The solid lines show the mean changes with age; the shaded areas, the normal ranges; the solid blue circles, the mean measurements for the different age groups; and the solid black circles, plus or minus two standard deviations for the same mean measurements. (Redrawn from Staheli LT, Corbett M, Wyss C, et al.: Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am 67:39-47, 1985.)

Controversy exists regarding appropriate intervention of ITT as it does in FA. Many orthopedists believe that it should not receive intervention at all because the natural history of the condition is gradual improvement. The very small percentage of children who do not improve and who have a significant functional deficit as a result of ITT can receive surgical intervention at a later date with external rotational osteotomy of the tibia and fibula. A different school of thought relies on natural improvement up to about 18 months of age and at that age advocates intervention for persistent ITT with a Friedman counter splint (Universal Shoe Splint Assembly, United States), a flexible leather strap, or a Denis Browne bar, a metal bar, for night wear, usually for about 6 months. These devices attach to shoes and hold the feet in an externally rotated position. The Denis Browne bar is an uncomfortable intervention that, because of adherence difficulties, is sometimes limited. Also, with the knees extended, the torque applied by the bar may be directed to the hips because the knees are extended. The Wheaton brace with an upper component has also been developed to isolate the correction to the tibia, not to apply torque to the hip. With this device, the knee is flexed to 90°, and improved comfort with this device may improve adherence. Another option is the Tibia Counter Rotator with toe-out gait plate (Biomechanics Technology Co Ltd, Goyang, Korea). It consists of well-padded straps, foot plate, and metal brace (Fig. 14.12). This device is considered more comfortable because it allows complete freedom of hip motion. It does accommodate the amount of torsion and can be adjusted periodically to continue improvement over time. Significant improvements have been seen in early studies.198,199

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FIG. 14.10 Transmalleolar axis in normal children and

adults. The mean in each age group is indicated by the larger dot and circle. ‘ = the mean age group.” = the standard deviation. (Redrawn from Staheli LT, Engel GM: Tibial torsion: a method of assessment and a survey of normal children. Clin Orthop Rel Res 86:183-186, 1972.)

Surgical correction is a supported option in a minority of cases, where there is severe cosmetic or functional deformity or a TFA over three standard deviations from the mean.52,186 No surgical intervention should be considered under the age of 10 years, with surgery associated with a high complication rate (avascular necrosis, osteomyelitis, overcorrection, nonunion, etc.).201 Successful approaches have included supramalleolar tibial rotation

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osteotomy44 and Haas’s multiple-longitudinal osteotomy technique.48 Correction can occur at the proximal tibia but has more risk of complication (compartment syndrome, damage to the common peroneal nerve and major neurovascular structures posterior to the upper tibia).77

Metatarsus Adductus The infant foot is malleable, making it susceptible to deformation and compression from intrauterine positioning. Alterations in alignment of the foot can be a result of increased intrauterine pressure, osseous abnormality, or abnormal muscle attachments.230 Metatarsus varus, also called metatarsus adductus (MTA), is one of the most commonly seen positional conditions in infants (occurs in 1 per 1000 live births).46 MTA is solely a forefoot deformity and because of this can be distinguished from talipes equinovarus and skewfoot, which involve the hindfoot structures.230 The deformity is at the tarsometatarsal joints (Lisfranc joint) of the foot, which results in contracture of the soft tissues around this joint. The forefoot is then adducted in relationship to the hindfoot. In some cases a dynamic deformity is seen only during the child’s gait, called “searching great toe.” The foot appears straight at rest, but forefoot varus as a result of muscle action occurs with medial motion of the great toe. This usually corrects spontaneously.201 Patients under 3 years old have a flexible or semiflexible metatarsus adductus. Patients over 4 years old tend to develop a progressively more rigid deformity.223

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FIG. 14.11 Conversion grid for the transmalleolar

axis. (Redrawn from Staheli LT, Engel GM: Tibial torsion: a method of assessment and a survey of normal children. Clin Orthop Rel Res 86:183-186, 1972.)

TABLE 14.2 Clinical Features of Common Causes of In-Toeing in Children

Intervention is rarely required for mild cases (grade I), which usually resolve on their own by about 4 to 6 months. Moderate cases (grade II) may receive intervention with stretching exercises and corrective shoes (straight-last or reverse-last shoes or both). A recommended stretching technique is to face the child, cup the heel

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of the foot with the left hand (if right foot MTA), and abduct the foot with the right hand while keeping the heel in varus. Pressure should be applied gently across the metatarsals.222 Severe cases may warrant manipulation and serial casting, followed by corrective shoes. Surgery is not considered before 4 years to allow for spontaneous resoluation.222 Although surgery should be used selectively, correction may be important in prevention of further problems as the child reaches adulthood.214 An increased risk of stress fractures in those with MTA has been documented. 214 Patients ages 25 to 61 years who experienced metatarsal fractures had a forefoot adductor angle of 21° to 37° (normal range, 8° to 14°).214

Out-Toeing Components that may contribute to out-toeing are external rotation contractures of the hip (and, rarely, femoral retroversion), external tibial torsion, and calcaneovalgus (Table 14.3).

External Rotation Contractures of the Hip/True Femoral Retroversion True femoral retroversion in an infant is rare; it is usually tightness in the hip external rotation muscles and capsular ligaments that is producing the externally rotated position, masking the femoral anteversion.168 In utero the hips are laterally rotated, making this a normal position in infancy. When the infant is positioned upright, the feet may turn out. If only one foot turns out, usually the turnedout foot is the normal one.201 If this continues into the second year of life, further evaluation may be needed because retrotorsion may increase the risk of slipped capital femoral epiphysis201 and has also been associated with degenerative arthritis of the hip201 and stress fracture.68

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FIG. 14.12 Tibia Counter Rotator with toe-out gait

plate. (From Son SM, Ahn SH, Jung GS, et al.: The therapeutic effect of tibia counter rotator with toe-out gait plate in the treatment of tibial internal torsion in children. Ann Rehabil Med 38:218-225, 2014.)

External Tibial Torsion ETT usually becomes worse with time because the tibia normally rotates laterally with growth201 and becomes most problematic in late childhood and adolescence. It is the rotational deformity most likely to require operative correction.201 ETT is most problematic and noticeable when present in combination with increased FA (malalignment syndrome).201 The knee is internally rotated and ankle externally rotated.201 This combination results in an inefficient gait, patellofemoral joint pain,201 and osteochondritis dessicans.21 Derotational tibial osteotomy is the only effective intervention but should be reserved for patients with knee pain, severe cosmetic and functional deformity, and an external TFA greater than 40°.200

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Calcaneovalgus Calcaneovalgus is a common positional foot problem in newborns, and more than 30% of neonates have bilateral calcaneovalgus.209 This is an example of an intrauterine “packaging” deformity. The ankle is in excessive dorsiflexion, the forefoot is curved out laterally, and the hindfoot is in valgus. The dorsum of the foot may actually be touching the anterior surface of the leg at birth. The positional calcaneovalgus foot corrects spontaneously and does not require intervention. In cases where ankle plantar flexion limitation is more severe, casting may be an option if stretching fails.71 Calcaneovalgus may also rarely be caused by a vertical talus. Congenital vertical talus is a very rare condition that is generally found along with other abnormalities100 and is characterized by the talus in a vertical orientation and the navicular displaced onto the dorsal surface of the talus. The forefoot is dorsiflexed but the hindfoot is plantarflexed, and the foot bends at the instep. This characteristic position is described as a “rocker-bottom” deformity of the foot, and the foot is much more rigid than the typical calcaneovalgus foot. This may more commonly be seen in association with other conditions such as neural tube defects, neuromuscular disorders, or congenital malformation syndromes.49 Without intervention, this leads to progressive foot pain in all sensate ambulators.222 Nonambulators may be fitted for shoes that accommodate their deformity because surgery is considered the only corrective intervention.222 TABLE 14.3 Clinical Features of Common Causes of Out-Toeing in Children

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Angular Conditions Genu varum (bowlegs) and genu valgum (knock-knees) are similar to torsional conditions in that they are commonly seen in developing children, and a specific natural history has been described that results in normal skeletal alignment at maturity (Fig. 14.13). A description of the natural growth and development process is in Chapter 5. Generally, the presentation of valgus is considered normal up to an age of 7 years.182,183 After the age of 8 years, pathologic conditions should be considered if deviations from this norm are present.15

Clinical Examination Subjective history of any problems will again provide valuable information. 1. Ask about noticed onset. Was there an injury or illness? 2. Is the deformity progressing? Are there old photographs that would show progression? 3. Tell me about your child’s general health. Have there been any other health concerns or problems with muscles or bones? Specific pathologic disorders have been identified with genu varum and valgum. Pathologic problems are generally indicated by: asymmetrical deformity, inconsistency with the normal sequence of angular development, stature less than the 5th percentile for age, severe deformity (> 10 cm intermalleolar or intercondylar distance), history of rapid progression, or presence of other musculoskeletal abnormalities.57,15

Measurement of the Hip-Knee-Ankle Angle Both clinical and radiographic documentation of the degree of varus and valgus will help provide baseline information for later comparison. For clinical measurement the child must be undressed with diaper removed for accurate documentation. For genu varum the child is placed with the medial malleoli approximated. The distance between femoral condyles is measured. Some clinicians use the distance between the knees at the knee joint line. A plastic

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triangle with centimeters marked on both sides is useful, allowing the examiner to easily obtain accurate measurements, especially of a wiggling child. Measurement of genu valgum can be performed with the child supine or standing, with the medial aspects of the knees lightly touching each other. The intermalleolar distance is documented. Radiographically, an anteroposterior view can be taken with the full length of the femur and tibia. The hip-kneeankle angle is measured to document the amount of varum or valgum at the knee.201 Other pathologic conditions may be noted on the films also.

FIG. 14.13 Graphic representation of the development

of the tibiofemoral angle during growth. (Redrawn from Sabharwal S, Zhao C: The hip-knee-ankle angle in children: reference values based on a full-length standing radiograph. J Bone Joint Surg Am 91:2461-2468, 2009.)

Genu Varum When a child develops severe genu varum, especially after 4 years of age or worsening over time, pathologic disorders should be ruled out. Documented causes of pathologic genu varum are congenital

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tibial hemimelia, osteochondrodysplasia, partial physeal arrest related to trauma, rickets, growth plate injury due to infection, tibial vara (Blount’s disease), or excessive prenatal fluoride ingestion.15,201 Also, the presence of an anterolateral bow of the tibia should be noted and can be confirmed on radiograph.201 This is the sign of a serious condition because the sclerotic intramedullary canal puts the tibia at severe risk of fracture in the first year of life. The tibial and fibula may fail to unite in these cases, resulting in a condition called “pseudoarthrosis of the tibia.” Protective bracing and surgical intervention may be helpful, but amputation may eventually be required because of persistent pseudoarthrosis.201 Infants usually have ITT and genu varum, and this combination tends to make the child look “bowlegged and pigeon-toed,” causing many parents and others great concern. Even when the genu varum has resolved and the child may actually have developed genu valgum, the presence of ITT may make the child look bowlegged. Physiologic genu varum does not usually require intervention unless it persists after age 2 years and either shows no tendency to correct or is actually worsening. This latter condition may require bracing in hip-knee-ankle-foot orthoses (HKAFOs) or knee-anklefoot orthoses (KAFOs) with no knee joint or a hinged knee joint that can be locked. Surgical correction is sometimes required, although this is rare.

Genu Valgum Genu valgum can occasionally persist beyond the age range when one expects the legs to become generally straight. Many of the children with persistent genu valgum are overweight and have an out-toeing foot progression angle, an awkward gait, and flat feet. Causes of pathologic valgum include: congenital fibular hemimelia, osteochondrodysplasia, overgrowth or partial physeal arrest related to trauma, rickets, osteogenesis imperfecta, growth plate injury related to infection, rheumatoid arthritis of knee, or paralytic conditions such as polio or cerebral palsy leading to contracture of the iliotibial band.15,201 Children with significant femoral anteversion may often appear knock-kneed. Once again, a clear understanding of the three-level

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concept of torsional conditions and the angular conditions is necessary to isolate the problem. Athletes have been noted to be predisposed to overuse injuries from both extrinsic factors (e.g., training errors) and intrinsic or anatomic factors, such as malalignment of the lower extremities. Variations in alignment may predispose athletes to knee extensor mechanism injuries, iliotibial band syndrome, stress fractures, and plantar fasciitis. Some adolescents with genu valgum present with anterior knee pain, patellofemoral instability, circumduction gait, and difficulty running.205 Genu valgum can also be seen in multiple epiphyseal dysplasia.184 Asymmetrical genu valgum may result from trauma or fracture of the lateral distal femoral epiphysis. If severe, physiologic genu valgum can be safely and effectively corrected in the teenage years by stapling of the medial femoral growth plate and genu varum by leg stapling of the lateral growth plate.97 This allows the unstapled side of the femoral growth plate to continue growing, and the leg gradually grows into better alignment. A second option for surgical intervention is femoral osteotomy.

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Flat foot A flatfoot is considered normal during at least the first 2 years of life and often is still present at age 6 years.157 Almost all children will demonstrate a flatfoot when they begin ambulating. Intrinsic laxity and a lack of neuromuscular control result in flattening of the arch when weight bearing.153 With weight bearing the ligaments stretch and allow mild subluxation of the tarsal bones. Morley145 documented flat feet in 97 percent of 18-month-olds. In a study of 835 children the incidence of flatfoot in 3-year-old children was 54 percent and in 6-year-old children was 24 percent.166 Most will develop an arch in the first decade of life (4 percent incidence of flat feet by age 10 years).145 After age 10 years, natural resolution is not likely and family history may be a factor.43 In a large populationbased interview study of prevalence of flat foot, the odds ratio for prevalence of flatfoot in adults in fourth decade was 1.02 although this increased to 1.04 in the group with body mass index 26 pounds/in2 and higher.191 This observation may be trivial but might also be noted clinically when a higher body mass index is present. Many parents will request medical consultation for their child when he or she begins to bear weight; because the normal development demonstrates changes through ages 8 to 10 years, no intervention is generally recommended until after this time period, especially when the child is asymptomatic.43,201 The pediatric flatfoot can be divided into two categories: flexible or rigid.

Flexible Flatfoot Flexible flatfoot is characterized by a normal arch during non– weight bearing and a flattening of the arch on stance that may be symptomatic or asymptomatic. At birth, infants have a physiologic ligamentous laxity and lack a medial arch. A fat pad is also present underneath the medial longitudinal arch and resolves between the ages of 2 and 5 years as the arch forms.147 Children often will also demonstrate more mobility of other joints as well, such as hyperextension of the fingers, elbows, and knees.157 In these cases the child can form an arch when asked to stand on tiptoe. The heels

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will roll into a varus position, and good strength of the ankle and foot muscles is measurable43 (Fig. 14.14). Besides ligament laxity, other factors have been identified as affecting the presence of a flexible flatfoot. Shoe wear was found to be an influence on the presence of flat feet in a study by Rao et al.172 of 2300 children between the ages of 4 and 13 years. Those who did not wear shoes had a 2.8% prevalence while those who wore closed-toe shoes had a 13.2% prevalence of flatfoot. Shoe wear was not found to be a significant factor in a study of 560 children (ages 6 to 12 years) in Nigeria, however.1

FIG. 14.14 Asymptomatic flexible flat feet demonstrate

a diminished arch in weight bearing with hindfoot valgus present (A). Upon weight bearing on toes, the arch reconstructs and the hindfoot moves into varus (B). (From Chaudhry B, Harvey D: Mosby’s color atlas and text of pediatrics and child health, St. Louis: 2001; Mosby.)

Another factor that is found more often in children with bilateral flatfoot is obesity. In children 6 years and younger, the incidence

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was found to be higher by Dowling et al.47 and Chen et al.30 Others have found that children (ages 7 to 15 years) who are more physically active have a lower arch than those who are less active.163 Also, children who habitually sit in the W-position have a higher rate of flat-footedness.30 Boys are more likely to be flat-footed than girls as well.163,166 It has been widely documented that a low arch usually is less of a problem in adulthood than high-arched (cavus) feet. Michelson et al.140 studied 196 college athletes with flat feet who had 227 episodes of lower extremity injury. Pes planus was not a risk factor for any lower extremity injury; therefore the use of orthotics to prevent further injury was discouraged. In a retrospective study of 97,279 military recruits, mild pes planus resulted in no greater incidence of anterior knee pain or intermittent low back pain when compared with controls.119 Athletic performance was not hindered by flat-footedness in children 11 to 15 years in a study comparing arch height and ability to perform motor skills.217 Intervention of the flexible flat foot generally is not necessary.43,157,201 Shoe modifications or inserts have been used, although studies have not shown these to be beneficial.43 Some pediatric orthopedists who counsel parents regarding the natural history of improvement in flat feet through childhood advise the use of a lightweight running shoe as the only recommendation. Using shoes with an arch support and a strong counter will not correct the flatfoot but can help decrease wear on the medial border of the shoes, thereby decreasing the expense of frequent shoe purchase. In order to rule out rheumatologic, inflammatory, neoplastic, or neurologic disease, the presence of morning stiffness, night pain, pain at rest, numbness, weakness, muscle wasting, constitutional symptoms, and polyarticular pain or swelling should be documented.43 Family history of hyperlaxity or syndromes associated with flat feet, such as Ehler-Danlos or Marfan syndrome should be considered. Children occasionally have an extra ossicle located at the medial border of the navicular, called an accessory navicular, that is frequently associated with flat feet. This condition may become symptomatic in late childhood or early adolescence, resulting in

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pain over the ossicle and along the medial arch, and can be corrected surgically.

Rigid Flat Feet Rigid flat feet are present in only about 1% of flat feet in children.221 Primary causes of this are tarsal coalition, congenital vertical talus, and neurologic, neoplastic, or posttraumatic pathologies.43 As with asymptomatic flexible flat feet, asymptomatic rigid flat feet do not require any intervention.43 When the hindfoot is fixed in a valgus position, symptoms such as pain, callus, ulceration, poor brace tolerance, and excessive shoe wear can be relieved by lengthening of the Achilles tendon and other surgical soft tissue and osseous procedures.43,221 Tarsal coalition involves two or more tarsal bones that are joined by fibrous, cartilaginous, or bony material.43,221 This connection will reduce movement, generally at the calcaneonavicular or talocalcaneal joints. Usually, this results in a flat foot, although normal alignment or cavus can occur.43 Passive or active hindfoot inversion results in a painful spasm of peroneal muscles so that it sometimes is called spastic peroneal flatfoot.221 Many coalitions are asymptomatic and no intervention is necessary.43 Symptoms may include foot pain, difficulties in walking on uneven ground, feeling of local fatigue, and peroneal spasm.221 In these cases, casting, splints, orthoses, and modified weight bearing may be needed, and in cases where conservative measures fail, surgical options of removal of the soft tissue interposition or arthrodesis are available.43,221 Congenital vertical talus typically presents in infancy as a rigid rocker-bottom foot.43 Primarily, the talus is in a plantarflexed position and the navicular is dislocated dorsally on the talus.43 Contractures of the Achilles tendon and the extensor digitorum longus muscle support these positions.221 Reduction of the deformity is not possible without serial casting and corrective surgeries.43,221 This is often seen along with myelomeningocele, arthrogryposis, and congenital hip dislocation.221

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Clubfoot Clubfoot, or congenital talipes equinovarus, is a common congenital deformity affecting approximately 1–2 in 1000 births.72 The components include forefoot adductus, hindfoot varus, and ankle equinus (Fig. 14.15). Anatomically, the talus is smaller in clubfoot than a normal foot and has a flattened superior surface with consequent decreases in talocalcaneal angle.232 The subtalar joint facets are misshapen, and the navicular is oriented more downward and medial than in the normal foot.232 Deformities of the tarsal bones are considered to be the primary cause while ligament and joint capsule changes adjust to the distorted position.232 The ligaments are generally thickened and muscles hypoplastic, resulting in generalized hypoplasia of the limb with shortening of the foot and smallness of the calf.201 The foot appears smaller as the result of a flexible, softer heel caused by the hypoplastic calcaneus.71 Ankle valgus may evolve with growth and may be mistaken for “overcorrected clubfoot,” or hindfoot valgus.206 Severe cases of metatarsus adductus may be confused with this, but the equinus component differentiates the diagnosis. Other musculoskeletal abnormalities commonly occur in conjunction with idiopathic clubfoot. Tibial shortening, ITT (or decreased external tibial torsion), and increased internal hip rotation have been documented.92,175 These changes may not be significant in some because the external tibial torsion may increase with age and the internal hip rotation may decrease with age.41,175 Also a factor may be the manipulation technique used to correct clubfoot; external tibial torsion increases if the corrective technique does not allow a progressive eversion of the talus underneath the calcaneus.58 Therefore rotational malalignment should be examined and monitored, although operative correction generally is not recommended until after 7 years of age because alignment may spontaneously correct with growth.175

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FIG. 14.15 Child with clubfoot with hindfoot varus,

hindfoot equinus, and forefoot varus. (Pisani G: “Coxa Pedis” today. Foot Ankle Surg 22:78-84, 2016.)

The cause of clubfoot is considered to be a combination of genetic and environmental factors.201,222 A genetic influence is suggested because siblings have up to 30 times the risk of developing clubfoot deformity and monozygotic twins have a 33% concordance rate.66,14,201,222 Also, a male predominance (2:1 ratio) is present although affected females are more likely to pass on the trait to their children and have siblings with clubfoot than males.121 Higher incidence is also seen in Hispanics and a lower incidence in Asians.201 Environmental factors have also been identified.14,66,201 These include factors during pregnancy such as cigarette smoking, early amniocentesis, or viral infection.66,14 Cases of clubfoot related to intrauterine positioning are generally mild and correct rapidly with intervention.201 More severe cases are thought to be from factors occurring earlier in fetal life, while idiopathic cases are generally in the middle range of the severity spectrum.201 Histologic anomalies have been identified in every tissue in the clubfoot, including muscle, nerve, vessels, tendon insertions, ligaments, fascia, and tendon sheaths.98 In addition, Loren et al.130 found congenital muscle fiber type disproportion or fiber size variation in 50 percent of peroneus brevis muscle biopsies performed at the time of posteromedial release, and those feet with such muscle variation had a significantly greater incidence of recurrent

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equinovarus deformity. The goal of intervention of clubfoot is to correct the deformity and retain mobility and strength.201 The foot needs to be plantigrade and must have a normal load-bearing area.201 Also included in the objectives are the ability to wear normal shoes, satisfactory appearance, and avoidance of unnecessary complicated or prolonged interventions.201 Extrinsic clubfoot (severe positional or soft tissue deformity that is supple) can often be successfully corrected with conservative intervention such as serial casting, which should be started as soon after birth as possible,40,171,236 although some have used up to 9 years of age.14 Casts are changed in the Ponsetti method semiweekly or weekly, and the foot should be positioned so that it can be corrected in an orderly sequence by first correcting the cavus, rotating the foot from under the talus, and finally correcting the equinus.201 After four to six castings, many may require an Achilles tenotomy to lengthen the tendon. Most can change to a brace for 3 months at that time, followed by a sleep brace for 2 to 4 years.66,222 This method is considered the standard approach throughout the world.201 A second method, the French method, involves daily manipulations of the foot by a therapist, stimulation of the muscles around the foot, and temporary immobilization of the foot with plaster cast.40 Duration of the intervention is generally 2 months14,40 and has been found to be effective in varying stages of severity.40 Some may require a tibialis anterior tendon transfer, usually between 3 and 5 years of age, to control dynamic forefoot supination or recurrent deformity.66 This is considered to be a minor procedure as it does not affect the joints of the foot.66 In cases of intrinsic (rigid) clubfoot, manual reduction and surgery may be required.71 Surgical techniques include Z lengthening of the Achilles and posterior tibiotalar and talocalcaneal capsulotomy to correct equinus, posteromedial talocalcaneal capsulotomy and/or subtalar release to correct hindfoot varus, release of the abductor hallucis and talonavicular joint for midfoot adduction, and plantar fascia release for cavus deformity.222

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Blount’s Disease/Tibia Vara Blount’s disease, or tibia vara, is a developmental condition resulting from a deceleration of growth at the posteromedial proximal tibial physis that ultimately results in a varus deformity of the tibia, along with flexion and internal rotation of the tibia and relative limb shortening in unilateral cases.16,181 Clinically, this disorder has been classified into three forms: infantile (onset 0 to 4 years), juvenile (onset 4 to 10 years), and adolescent (onset after 10 years).181 The etiology of Blount’s disease is unknown, but some predisposing factors have been identified.16,181 Boys are more affected than girls, and approximately 50% of the cases are bilateral but not always symmetrical.16 The growth inhibition at the proximal tibia may be related to excessive compressive forces medially. In infantile forms, an early walking age, large stature, obesity, or a combination of these factors has been suggested.16 Others have suggested that various genetic, medical, biomechanical, and environmental factors contribute.181 In adolescent forms the likely cause is a mechanical injury to the medial tibial physis, with or without a preexisting varus deformity.16 Differential diagnoses that should be considered are rickets, renal osteodystrophy, focal fibrocartilaginous defect, and proximal tibial physeal injury.16 The influence of obesity should be considered in this population. In a child with genu varum, obesity will cause an increased compressive force at the medial tibia.181 Also of note are gait deviations caused by obesity related to increased thigh girth.181 When the thigh girth limits adduction of the hips, a varus moment results at the knees and increases the pressure at the medial part of the proximal tibial physis. Therefore late-onset Blount’s disease may result from these mechanical factors and not a preexisting varus alignment.16,181 In children younger than 2 years of age, it sometimes is difficult to distinguish between physiologic genu varum and Blount’s disease.222 Physiologic genu varum will be demonstrated by angular deformity from the femur and the tibia, and infantile Blount’s disease involves deformity isolated to the proximal tibia.222 Radiographic findings will show varus angulation centered at the

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knee, mild metaphyseal beaking (appearance similar to a bird’s beak), thickening of the medial tibial cortices, and tilted ankle joints. Six stages of infantile Blount’s disease (from 1 through 6, least to more involved) have been described on the basis of this radiographic appearance16,201,222 (Fig. 14.16). Also useful in the diagnosis of and choice of intervention for infantile Blount’s disease is the metaphyseal-diaphyseal angle.201,222 If the angle exceeds 16°, Blount’s disease is likely to develop.16,201 Radiographs are performed every 3 to 6 months, and improvement will be seen with physiologic varus after the child’s second birthday; however, Blount’s disease will progress and show metaphyseal changes.201 In adolescent Blount’s disease, the distal femur may also be angulated, and radiographs will demonstrate medial physeal and epiphyseal hypoplasia of the proximal tibia.222 Also, a lateral or varus thrust during gait may be seen.222

FIG. 14.16 Langenskiold’s radiographic classification

system describes the six stages of infantile Blount’s disease. (Redrawn from Langeskiöld A: Tibia vara [osteochondrosis deformans tibiae]: a survey of 23 cases. Acta Chir Scand 103:1-22, 1952.)

Intervention is based on the stage of tibia vara and age of the child.16,181,201 In children younger than 3 years of age, observation is very important, with bracing prescribed in the presence of a lateral thrust201 or in stages 1 and 2.222 Richards et al.176 found a 70 percent success rate with bracing in this group. During this study, three different types of orthoses were used and included conventional HKAFOs, conventional KAFOs, and elastic Blount KAFOs (medial upright design that uses a wide elastic band just inferior to the knee joint) and the elastic Blount brace has been the choice at this clinic since its development in 1987. Surgery is recommended if the tibia

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vara progresses or is initially seen in stage 3 or 4.16,181,201 This option is considered if conservative intervention has failed by the fourth birthday.222 Surgery may be needed to correct the varus deformity, correct the ITT, restore normal joint congruity, and prevent or correct limb length discrepancy.2 Better outcomes with operative realignment were found when surgery was performed before 4 years of age.181,222 Also, better outcomes were documented when surgery was performed before permanent physeal damage had occurred.88 Late-onset Blount’s disease is corrected surgically with proximal tibial osteotomy and/or lateral physeal hemiepiphysiodesis (selective closure of half of the growth plate to allow the contralateral portion of the physis to correct with growth).222

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Developmental Dysplasia of the Hip Developmental dysplasia of the hip (DDH) is a term used to describe a wide-ranging spectrum of disorders from minor acetabular dysplasia to irreducible dislocation of the femoral head, with the primary cause being instability of the hip.39,107 It may also include hips that may have been normal or were believed to be normal at birth but subsequently were documented to have dysplasia.170 The term dysplasia describes abnormal development or growth. Normal muscle balance and a femoral head that is concentric, congruent with, and seated deep within the acetabulum are necessary prerequisites for normal hip development. The concave acetabulum develops in response to a spherical femoral head, and the depth normally increases with growth. The incidence of hip dysplasia in the United States is 5.5 per 1000 for full-term babies within the first 2 days of life.6 The incidence dropped to 0.5 per 1000 after 2 weeks of age, indicating that many cases improve without intervention.6 Prompt recognition of and initiation of intervention for DDH, preferably in the newborn period, provide the best chance for subsequent optimal hip development and a normal hip at skeletal maturity, especially in those cases that do not resolve spontaneously. Ideally, DDH will be identified in the neonatal screening, but cases have been found that were clinically stable in the neonatal period but subluxed or dislocated later.170 This finding would encourage clinicians to evaluate the hip beyond the neonatal period until the child begins to walk.170 The origin of DDH is thought to be multifactorial. The Subcommittee on Developmental Dysplasia of the Hip of the American Academy of Pediatrics37 has identified four periods during which the hip is at risk. If a dislocation occurs as the fetal lower limb rotates medially during the 12th week of gestation, all elements of the hip joint develop abnormally.37 During the 18th gestational week, the hip muscles are developing, and neuromuscular problems occurring at this time, such as myelodysplasia and arthrogryposis, can lead to dislocation.37

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During the final 4 weeks of pregnancy, dislocation can occur as the result of mechanical forces.37 Most noted in this time frame is breech positioning, as DDH occurs in as many as 23% of breech presentations.37 The breech position puts the child at high risk by placing the hip in flexion and the knee in extension.37 The left hip is involved three times more often than the right hip because of intrauterine positioning with the left hip positioned posteriorly against the mother’s spine, potentially limiting abduction.37 Also related to intrauterine positioning is the increased incidence seen in firstborn children173,188 as well as babies with high birth weights.188 Because these are related to positioning due to limited space in the uterus, other abnormalities may coexist with DDH including torticollis, metatarsus adductus, and oligohydramnios.188 In the postnatal period, positioning such as swaddling, combined with ligament laxity, can have a role.37 Girls are more susceptible to the maternal hormone relaxin, which may contribute to ligament laxity37 and possibly account for the five times higher frequency in females.188 Also of interest is the reduced incidence of DDH among cultures in which infants are routinely carried with their hips in flexion and wide abduction in cloth slings on the mother’s back or astride her hips54 along with the increase in dysplasia noted in children who are swaddled in the first few months of life.36 Although risk factors have been identified, all children should be considered because the majority of cases of DDH have no identifiable risk factors.193

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FIG. 14.17 Algorithm for neonatal physical examination

screening for hip dysplasia. DDH, developmental dysplasia of the hip. (From Mahan ST, Katz JN, Kim YJ: To screen or not to screen? A decision analysis of the utility of screening for developmental dysplasia of the hip. J Bone Joint Surg Am 91:1705-1719, 2009.)

Clinical Examination Screening for DDH has been the focus of many studies and reviews for the purpose of developing protocols that allow for early intervention when needed.90,94,134,193,211 Generally, the accepted practice is clinical screening of all newborns and ultrasound screening on all newborns with identified risk factors.90,94,134 An algorithm of this process is in Fig. 14.17. Clinical screening includes performance of the Ortolani test (reduction test) and the Barlow test (stress test). Description of these

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tests is in Fig. 14.18. The child needs to be completely relaxed for these maneuvers to have reliable diagnostic value. Every slight muscular contraction around the hip can obscure the instability and negate the examination. The experience of the clinician with these tests has been shown to be a strong predictor of the test results.193 Pediatricians have been shown to have a case identification rate of 8 per 1000, while orthopedists identify 11 per 1000.126 The Ortolani and Barlow tests are often negative by 2 to 3 months of age because the hip improves in stability and stays in the socket or becomes fixed in a dislocated position. Positive tests will continue to be the most reliable clinical findings in older infants and toddlers with dysplasia. Other clinical signs at greater than 3 months of age are restricted hip abduction ( 4 kg), overdue (> 42 weeks), oligohydramnios, presence of plagiocephaly, torticollis, or foot deformities, or firstborn baby or multiple pregnancies (decreased intrauterine space).94 Ultrasonography allows examination of the cartilaginous structures not visualized on plain radiographs and allows stress testing (to document instability), with the additional advantage of no radiation exposure. It is also useful in the management of DDH, documenting reduction of the dislocated hip in the Pavlik harness213 and providing information on the status of the hip to aid decisions on altering or stopping intervention (Fig. 14.19). The Graf classification system is used in classifying hips with DDH (Fig. 14.20). At age 5 months and older, radiographs are the more appropriate screening tool.94,193 Because of the need for a radiograph of the uninvolved side for comparison and because of

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the frequency of bilateral involvement, the standard radiograph is an anteroposterior view of the pelvis. The benefits of x-ray to monitor DDH through walking age outweigh the risks of radiation exposure.185 The acetabular index (Fig. 14.21) can be monitored through the radiographs as well as an early finding of the “teardrop” indicating a stable, concentric reduction of the hip has been achieved.196 The “teardrop” is a landmark in the inferior medial acetabulum on an anteroposterior radiograph.196 Many parameters of hip development can be measured on hip radiographs.

FIG. 14.18 Barlow maneuver. The hip is first flexed

and abducted, then is gradually adducted, with pressure exerted in a posterior direction. Dislocation of the femoral head over the posterior acetabular rim indicates an unstable hip. The head may slide to the edge of the socket (subluxatable) or may dislocate out of the acetabulum (dislocatable). In the Ortolanipositive hip, the hip is dislocated in a position of flexion

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and adduction. Gentle flexion, abduction, and slight traction (the Ortolani maneuver) reduce the hip. A positive Ortolani sign indicates a more unstable hip than a positive Barlow sign. (From Hagen-Ansert SL: Textbook of diagnostic sonography. 7th ed. St. Louis, Mosby, 2012.)

FIG. 14.19 Radiographic measurements that are useful

for evaluating developmental dysplasia of the hip. The Hilgenreiner line is drawn through the triradiate cartilates. The Perkin line is drawn perpendicular to the Hilgenreiner line at the margin of the bony acetabulum. The Shenton line curves along the femoral metaphysic and connects smoothly to the inner margin of the pubis. Dimension H (height) is measured from the top of the ossified femur to the Hilgenreiner line. Dimension D (distance) is measured from the inner

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border of the teardrop to the center of the upper tip of the ossified femur. Dimensions H and D are measured to quantify proximal and lateral displacement of the hip and are most useful when the head is not ossified. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

When the clinical finding is hip instability (either reducible dislocation or dislocatable hip), the hip becomes stable spontaneously in about half the cases.188 The other cases can be classified as dysplasia, subluxation, or dislocation.81 Dysplasia describes a radiographic finding of increased obliquity and the loss of the concavity of the acetabulum, with an intact Shenton line. The Shenton line should be continuous with no breaks. It is drawn on radiographs along the inferior border of the superior pubic ramus and then continues along the inferomedial border of the neck of the femur.81 A superolateral migration of the proximal femur results in a discontinuous Shenton line. Subluxation describes when the femoral head is not in full contact with the acetabulum with the presentation of a widened teardrop femoral head distance, a reduced center-edge angle, and a break in the Shenton line.81 In these cases the femoral head is in the socket but can be partially displaced out of the acetabular rim. Dislocation refers to the femoral head not in contact with the acetabulum.81 This can include cases where the femoral head is reduced but can be dislocated with a Barlow maneuver, dislocated but reducible (where the femoral head is out of the acetabulum at rest but can be reduced with an Ortolani maneuver), or dislocated but not reducible (which is generally related to other medical issues occurring before birth). Both subluxated and dislocated hips have dysplastic changes.81 Over time, the stresses on the joints will cause further problems if left without correction. Dysplastic hips without subluxation will usually become painful and develop degenerative changes. Often they will become subluxed as the degenerative disease progresses.81 The subluxed hip will lead to symptomatic degenerative disease with gradual increasing pain starting as early as the second decade of life in severe cases and the fifth and sixth decades in the least severe cases.81 A completely dislocated hip will demonstrate symptoms later than a subluxed hip and, in some, never become

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symptomatic.81

FIG. 14.20 Graf classification of infant hips based on

the depth and shape of the acetabulum as seen on coronal ultrasonograms. Type I: normal; characterized by a well-formed acetabular cup with the femoral head beneath the acetabular roof. Type II: immature in infants less than 3 months of age and mildly dysplastic in infants older than 3 months of age; characterized by a shallow acetabulum with a rounded rim. Type III: subluxated; characterized by a very shallow acetabulum with some displacement of the femoral head. Type IV: dislocated; characterized by a flat acetabular cup and loss of contact with the femoral head. (Redrawn from French LM: Screening for developmental dysplasia of the hip. Am Fam Physician 60:177-184, 1999. © 1999 David Klem.)

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FIG. 14.21 Acetabular index. The acetabular index is

the angle between a line drawn along the margin of the acetabulum and the Hilgenreiner line; it averages 27.5° in normal newborns, and it decreases with age. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

Intervention for DDH Goals for Intervention The basic goal for intervention of DDH is the same regardless of the age of the patient: reduce and maintain the reduction to provide an optimal position for the development of the femoral head and acetabulum.224 If this reduction is maintained, the femoral head and femoral anteversion can remodel.224 The intervention to achieve this position becomes more complex as the child ages. Also, with increasing age and complexity come more risks of complications and the likelihood of the development of degenerative joint disease.224

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FIG. 14.22 Infant in a Pavlik harness.

(From Ball J: Mosby’s

pediatric patient teaching guides. St. Louis, Mosby, 1998.)

Birth to 6 months old The Pavlik harness is the primary method of correcting DDH during infancy. The Pavlik harness was first described by Dr. Arnol Pavlik, who originally called his intervention device “stirrups.” Modifications have been made in the design of the device, but the principles of intervention and the requirements of the harness remain essentially the same as described by him over 50 years ago.164 Pavlik stressed that one of the main advantages of the harness over casts is that it allows active motion, thereby decreasing the incidence of avascular necrosis (AVN) of the femoral head.165 The Pavlik harness restricts hip extension and adduction that can lead to redislocation, but it allows further flexion and abduction, which lead to reduction and stabilization (Fig. 14.22). The position of flexion and abduction enhances normal acetabular development, and the kicking motion allowed in this position stretches the contracted hip adductors and promotes spontaneous reduction of

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the dislocated hip. By maintaining the Ortolani-positive hip in a Pavlik harness continually for 6 weeks, hip instability resolves in 90% to 95% of the cases of subluxation and dysplasia, and there is approximately 85% success in cases of dislocation.150,224 The overall success rate has been described as 91.5% at a minimum of 14 years’ follow-up.150 Ultrasonography is an important tool to monitor intervention (after initial 7 to 10 days and every 3 weeks thereafter)81,224 and to determine when intervention should be discontinued either because of successful or unsuccessful results.39 Failure of the harness is generally thought to be from inappropriate application or persistence of intervention when not effective.224 Complications can occur if a child is positioned in greater than 12° flexion (femoral nerve palsy or dislocation of femoral head inferiorly).81,224 After 6 months of age, the failure rate for the Pavlik harness is over 50 percent because the active and crawling child is difficult to maintain in position in the harness.224 The harness is contraindicated in patients with significant muscle imbalance (myelodysplasia or cerebral palsy), significant stiffness of joints (arthrogryposis), and excessive ligament laxity (Ehlers-Danlos syndrome).224 Use of an abduction splint following the use of the Pavlik harness is advocated by some to allow further development of the acetabulum.81 The Ilfeld splint (Fig. 14.23) and the von Rosen splint (Fig. 14.24) have shown high success rates for this.81 Triple diapering has not shown positive effects.81

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FIG. 14.23 Ilfeld splint.

If the use of the Pavlik harness is not successful in reducing a dislocated hip, surgical intervention is indicated. This may include a period of 2 to 3 weeks of traction to reduce the incidence of AVN of the femoral head. Home traction is a safe, effective, and much less expensive alternative to performing traction in the hospital.115 Surgery includes an arthrogram to define the anatomic landmarks of the femoral head and acetabulum and to detect the presence of soft tissue (pulvinar) interposition between the head and acetabulum; adductor tenotomy; closed or (if necessary) open reduction of the hip; and application of a spica cast. Luhmann and colleagues131 reported that delaying reduction of a dislocated hip until the appearance of an ossification nucleus more than doubled

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the need for additional reconstructive procedures, advocating early intervention.

FIG. 14.24 The Von Rosen splint.

NetterImages.com.)

6 months to 2 years old The child who is between 6 months and 2 years old who presents with a newly dislocated hip and the child who has failed conservative care to this point is managed in similar ways.81,224 In these patients the obstacles to maintaining reduction are different, the intervention has greater risks, and the end results are less predictable.224 The goal is still to achieve reduction, maintain that reduction to provide an environment for the development of the

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femoral head and acetabulum, and avoid proximal femoral growth disturbance.81,224 The two primary methods of intervention will be closed reduction or open reduction, either of which may be preceded by traction.81,224 The need for the use of traction is a choice that may vary among physicians.81,224 The purpose of traction prior to a reduction is to stretch contracted muscles, allowing the reduction to be performed without excessive force decreasing the incidence of avascular necrosis and open reduction.224 The use for traction has been challenged because studies have shown conflicting results on its benefits when compared to no traction prior to closed reduction.122,194 Also debated has been the effect of traction on the rate of open reductions needed.81 In fact, this practice of traction seems to have changed significantly over the last 20 years with fewer surgeons using it routinely presurgically.224 For those who would benefit from it, home traction is an option because it may be applied for 2 to 3 weeks, and this would allow decreased hospital admission time, although adherence of the family and patient is essential to this option.81,224 Closed reductions are performed with general anesthesia or deep sedation. The hip is reduced as it would be in the Ortolani maneuver with minimal force applied. The ROM that is allowed while the hip remains reduced is compared to normal ROM and a “safe zone” is determined81 (Fig. 14.25). If the reduction is determined to be stable, the child is immobilized in a hip spica cast. The length of time in the cast will vary with each patient, but generally the first cast is applied for 6 weeks with examination at that time followed by a second cast for 6 weeks. Further immobilization will be determined at that time depending on the stability of the joint. Some will continue with abduction splinting following the casting.81,224

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FIG. 14.25 Examination of the hip with developmental

dysplasia. (A) Wide zone of safety. (B) Moderate zone of safety. (C) Narrow zone of safety. (D) Femoral head dislocation. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

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FIG. 14.26 A clinical decision tree for children with a

limp. (From Scoles PV: Pediatric orthopedics in clinical practice. 2nd ed. Chicago, Year Book Medical Publishers, 1988.)

Open reduction is indicated when closed reduction fails to obtain a stable hip. This may be determined at the time of the initial closed reduction or may become evident at the cast change. The surgical procedure can be performed from an anterior or medial approach to perform a capsulorrhaphy, capsular repair, and pelvic osteotomy, if needed.81,224 Following the surgery, casting will be applied as done with a closed reduction.81

Two years old and older Intervention for older children with hip dislocation becomes more challenging. The femoral head is usually in a more proximal location, and the muscles that cross the hip are generally more contracted. Generally, a femoral shortening will need to be performed because this has shown better results than skeletal traction in this age group. Also, an acetabular reshaping osteotomy will be needed.81 A potential complication is posterior dislocation of the hip. Good results have been reported with this intervention

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with low rates of avascular necrosis.81 The upper age at which this should be performed has been debated. It may be appropriate for children up to 9 or 10 years old in unilateral cases and up to age 8 years in bilateral cases.81 When children reach late juvenile and adolescent age, a triple pelvic osteotomy is often required for intervention.227 A number of children with acetabular dysplasia are never diagnosed as infants or toddlers. With mild dysplasia, they will walk without a limp, will have essentially normal hip ROM, and can actively participate in all childhood activities, including sports. However, the hip is like a tire that is out of alignment: you can drive on it for quite a few miles, but uneven wear will occur. The dysplastic hip, especially the one with subluxation, also develops uneven wear with subsequent articular cartilage damage. The person may develop degenerative arthritis, hip pain, and limp as early as the late teens. Very mild dysplasia may go undetected for many decades and may be diagnosed later in life when the patient develops degenerative hip joint disease. One area of discussion is the presence of acetabular retroversion and/or femoral acetabular impingement as a long-term outcome for those with hip dysplasia or as a result of intervention.224 Femoral acetabular impingement can further lead to acetabular cartilage delamination and degenerative joint disease over time.224

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Causes of Limping in Children The acute onset of limp in a child is a condition that warrants evaluation. In this section chronic causes of limp, such as those due to muscle weakness, will not be addressed. Orthopedic conditions that can result in acute limping will be reviewed. Although some of these are transitory and benign, some can result in lifelong impairments, especially if not corrected promptly and effectively. Fig. 14.26 and Box 14.1 provide useful information for the initial evaluation and assist in confirming a differential diagnosis. It is important to identify those who need immediate medical or surgical attention to prevent complications. Especially for those working in a direct access situation, attention to the history and systemic symptoms are important in the determination of referral to other professionals.

History and Physical Examination When a child has a limp, a complete and thorough evaluation is recommended. A detailed history should be taken and should include a description of any recent illness or injury that may be a contributory factor. The clinician should be aware, however, that children do fall frequently, and a fall could be related to the onset of the limp or other injury, even though it may be incidental and unrelated. Physical examination should include an observational gait analysis. This should allow the clinician to determine which leg is involved and perhaps the location within the leg. Gait analysis can provide much assistance in the direction of further testing. The algorithm in Fig. 14.27 demonstrates the process of generally categorizing the gait by observation with further physical examination and diagnostic testing used as confirmation. The physical examination should also include a complete examination of the spine, hips, thighs, knees, lower legs, ankles, and feet, including the uninvolved side for comparison. Objective measurements of ROM and strength should be taken, as should observations of the presence of muscle atrophy, swelling, redness,

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and difference in temperature between limbs. Also, the child’s subjective response of pain with palpation and with movement and muscle contraction is important. Much information can be gathered from the way a child performs functional activities, which is especially important when a child’s cooperation might limit a formalized evaluation. Observation of the child moving from the floor to standing or crawling or achieving a comfortable sitting position can provide usable information. For example, a child may refuse to walk because of pain but may crawl easily, indicating that the problem is probably evident in the lower part of the leg, rather than in the hip or knee. A child might also demonstrate the use of his hands to “walk” up his body to rise to standing from the floor (Gowers’ sign) because of hip and thigh muscle weakness, which could be related to neurologic disorders or other conditions causing proximal muscle weakness.

B O X 1 4 . 1 Diagnoses

of Limping Commonly

Found in Various Age Groups Birth to Age 5 Years Osteomyelitis Septic arthritis Transient synovitis Occult fractures Kohler syndrome

Child (4–10 Years) Transient synovitis Legg-Calvé-Perthes disease Discoid lateral meniscus Sever disease Growing pains

Adolescent (11–15 Years) Slipped capital femoral epiphysis Osgood-Schlatter syndrome Osteochondritis dissecans

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Tarsal coalition Freiberg disease Accessory navicular One consideration should be the various types of osteochondroses that are common causes of limp in the 5- to 10year-old group and in the 10- to 15-year-old age group (Table 14.4). The osteochondroses represent a group of disease of children and adolescents in which localized tissue death (necrosis) occurs, usually followed by full regeneration of healthy bone tissue.51 During the years of rapid bone growth, blood supply to the epiphyses (growing ends of bones) may be compromised, resulting in necrotic bone, usually near joints.51 Because bone is undergoing a continuous rebuilding process, the necrotic areas are often selfrepaired over a period of weeks or months.51 Osteochondrosis is generally divided into three locations: physeal, articular, and nonarticular. Physeal osteochondrosis (Scheuermann disease) occurs at the intervertebral joints.51 Articular diseases occur at the joints (articulations), with common forms occurring at the hip, foot, and elbow.51 Nonarticular osteochondrosis occurs at any other skeletal location, with one example being Osgood-Schlatter disease, which occurs at the tibia.51 Many cases are idiopathic although stress related; repetitive trauma and infection are noted causes, and occurrence generally is more frequent at times of rapid growth of the epiphysis.51 TABLE 14.4 Conditions of Osteochondroses Ossification Center Tarsal navicular Capital femoral Calcaneus Tibial tubercle Second metatarsal head Vertebral ring Capitellum

Eponym Kohler disease Legg-Calvé-Perthes disease Sever disease Osgood-Schlatter syndrome Freiberg disease Scheuermann disease Panner disease

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Typical Age (Years) 3–8 4–8 8–15 Boys 12–15; girls 8–12 13–18 10–12 < 10

FIG. 14.27 Algorithm used for evaluation of limping. A

general category can be determined by observation with physical examination and tests used to confirm the problem. (From Staheli LT: Practice of pediatric orthopedics. 2nd ed. Philadelphia, Lippincott Williams and Wilkins, 2006.)

Other Diagnostic Tests In addition to a careful clinical examination, other tests are often indicated. Radiographs can document fractures or other bony abnormalities, although some occult fractures are not identifiable on radiography until 10 to 14 days after onset, when a repeat radiograph may document formation of callus. Laboratory examination of blood samples provides information regarding the presence of infection or other acute processes. The erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) can indicate the presence of acute inflammation, as well as response to intervention. More complex diagnostic studies may also be needed to define the problem or evaluate the efficacy of interventions. These studies include bone scans, magnetic resonance imaging (MRI) (for soft tissue), and CT (for bony structures). The cause of a limp in a child may be as simple as a foreign object in the shoe or as complex as osteogenic sarcoma. Therefore

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generalizations regarding management should not be made, and a diagnosis should be established as quickly as possible. Many cases may be easily corrected, and some require no intervention beyond observation. Many causes of limp are associated with specific age groups, specifically one of three groups: birth to 5 years, 5 to 10 years, and 10 to 15 years. Soft tissue injuries (i.e., contusion, ligaments, and tendon injuries) and fractures are found in all age groups.

Osteomyelitis Osteomyelitis has the highest incidence in children under the age of 3 years.177 It can be classified as acute (< 14 days’ disease duration) or subacute (> 14 days’ disease duration). Also, occurring rarely is chronic recurrent multifocal osteomyelitis (CRMO), which is an autoinflammatory bone disease that may present with pain and signs of inflammation over months or years without responding to intervention.3,7 The incidence rate can vary regionally with approximate values of 8 per 100,000 for acute osteomyelitis and 5 per 100,000 for subacute osteomyelitis (13 per 100,000 combined).177 The incidence of CRMO is 1 in 1 million.7 Most commonly, osteomyelitis in children is hematogenous, which means circulating pathogenic organisms settle in the metaphyses of long bones due to slower circulation in these regions.169 In the United States, the incidence of acute hematogenous osteomyelitis is 1 in 5000 children under the age of 13 years.133 Nonhematogenous osteomyelitis is the result from direct inoculation of organisms into the bone due to conditions such as penetrating trauma or open fractures.169 When trauma occurs, local edema may alter the blood flow, and the formation of a hematoma may provide a good environment for bacterial proliferation.229 In some instances a history of recent respiratory infection, otitis media, or an infected wound is reported.45 Boys are more susceptible than girls with an approximate ratio of 2:1.158 When the infection spreads to the adjacent joint, septic arthritis may result, which is a more likely complication in neonates.156 This is related to the vascular anatomy of the epiphyses in neonates; before the secondary ossification center forms, the cartilaginous epiphyses receive their blood supply

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directly from metaphyseal blood vessels.156 In joints such as the hip, where the metaphysis is intracapsular, the spread of infection to the joint occurs.156 In neonatal osteomyelitis, infection leads to damage to the epiphysis or septic arthritis in 76% of the cases.156 CRMO will generally resolve postpubertally,141 although long-term studies have shown that up to 25 percent have persistent disease, with complications including risk of permanent bone deformities, poorer quality of life, and difficulty in achieving vocational goals.89,93,137,167 The most common etiology of hematogenous osteomyelitis in children is Staphylococcus aureus79,156,158 although occasionally fungi, viruses, or parasites may be involved, especially in the immunocompromised.10,69 Since the introduction of the Haemophilus influenzae type b (Hib) vaccine in 1992, the incidence of Haemophilus influenzae infection in infants and older children is much less.91 Of noted concern at this time is the virulent strains of methicillinresistant Staphylococcus aureus (MRSA).79 The prevalence of osteomyelitis caused by MRSA increased from 0.3 to 1.4 per 1000 hospital admissions from 2002 to 2007 in a survey of 20 metropolitan hospitals in the United States.64 When MRSA is the etiology of osteomyelitis in children, more severe bone infection has been documented with more aggressive surgical and medical management required.79 Another cause is Kingella kingae.76 This organism has been found in several geographical regions and is difficult to culture, requiring specific testing techniques.76,158 Some differences between the clinical findings in the presence of Staphylococcus aureus and Kingella kingae can be found in Table 14.5.158 Clinically, the onset of osteomyelitis is generally sudden, and the rapid progression can cause permanent damage and later consequences in the child.45 The most common sites of osteomyelitis are the rapidly growing ends of long bones; the condition is more common in the lower extremity.45 Therefore the metaphyses of the distal femur and of the proximal tibia are the most common sites of infection.45,156 TABLE 14.5 Characteristics of Staphylococcus Aureus Versus Kingella Kingae

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Age Fever C-reactive protein (CRP)

Staphylococcus Aureus Any age group > 38°C Elevated

White blood cell count (WBC) Elevated

Kingella Kingae Often < 4 years Afebrile on admission May be normal May be normal

From Pääkkönen M, Peltola H: Bone and joint infections. Pediatr Clin N Am 2013;60:425-436.

The signs and symptoms of acute hematogenous osteomyelitis are variable, according to factors such as age of the patient, site of infection, resistance of the child, and virulence of the affecting organism.45 Generally, however, onset is sudden, with localized bone tenderness, swelling, and pain over the metaphysis of the involved bone.45 A high fever and chills are often present, and the patient is often unwilling to use the affected limb.45 Frequently, the child will refuse to walk when the lower extremity is affected.45 Neonates often do not demonstrate signs of systemic illness, and signs of pseudoparalysis and pain with passive motion are difficult to detect.45 Initial routine blood tests, such as ESR, C-reactive protein (CRP), and white blood count (WBC), are used to determine the extent of the inflammation and also help monitor the response to antibiotic therapy.158 All of these levels are elevated in the presence of osteomyelitis. With intervention, ESR and CRP will normalize, although the CRP value normalizes in 7 to 10 days while the ESR takes 3 to 4 weeks.45,158 The signs and symptoms, routine blood tests, and vaccination history against Hib or pneumococcus will help in the speculation of the causative organism, but the gold standard for identification is a bacterial culture.76,158 These should include bone samples and blood cultures.76,158 For accuracy the blood cultures should be obtained before antibiotic therapy is initiated.45 Imaging can provide further information in cases of osteomyelitis. Plain radiographs are important for the purpose of excluding other diagnoses such as fracture.76 Deep soft tissue swelling can be seen within the first few days of onset.76,156 Osteopenia or osteolytic lesions from destruction of bone or periosteal new bone formation will not be visible until 2 to 3 weeks after onset.76,156 Therefore other imaging techniques may be helpful. Ultrasound allows the detection of subperiosteal collections and joint effusions as early as 48 hours although it does not determine

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the presence or absence of infection.156 Skeletal scintigraphy allows for a whole-body survey, which is especially helpful in those with poorly localized symptoms or if multiple foci of infection are suspected.76,156 It does, however, require exposure to ionizing radiation and the sensitivity is lower in neonates.76 Differentiation of the cause of the osteomyelitis as well as limited ability to diagnose community-acquired Staphylococcus aureus osteomyelitis are issues with scintigraphy.76 Magnetic resonance imaging (MRI) is helpful in identifying intra osseous, subperiosteal and soft-tissue abscesses but does not differentiate these conditions from similar ones found with fracture and infarct.76 CT is helpful in detecting sequestra (indicative of chronic osteomyelitis) and intraosseous gas and can define subperiosteal abscesses, all of which should be considered in intervention.76,156 Also, CT may help guide aspiration and biopsy.156 The identification of the source of the infection is important for successful intervention. Generally, antibiotic therapy will range from 4 to 6 weeks in duration76,156 but will be individualized according to the severity of the infection, the time elapsed between onset of the disease and initiation of intervention, the extent of bone involvement, and laboratory responses after the initial intervention.152 Surgical intervention may be needed in cases where an abscess or a sequestra has developed, but guidelines are subjective because some of these have resolved with antibiotic course.158 The decision to intervene will be based on the clinical presentation and response to antibiotic therapy. Persistent fevers and persistent elevation of the CRP in a patient with a periosteal abscess would be indications for surgical drainage.158 This is more often needed when the onset of symptoms is more than a week prior to intervention.158 Other surgical procedures may be needed if damage to the involved bone occurs (pathologic fracture, premature/asymmetrical closure of growth plate, angular deformities of bone).76

Septic Arthritis Septic arthritis (pyogenic arthritis) is defined as an infection of a joint caused by bacterial organisms. This is an extremely

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threatening condition because a joint may be destroyed within 48 hours of onset of symptoms. Septic arthritis causes destruction of articular cartilage and long-term growth arrest. The resulting deformities may be permanent and may have a wide-ranging, lifelong impact, affecting the person’s gait, participation in sports, and choice of occupation and leisure activities. As described previously in the osteomyelitis section, septic arthritis results from osteomyelitis in 76% of the cases in neonatates.156 Septic arthritis generally causes a rapid inflammatory response.45 The synovial membrane responds with a hyperemia followed by excessive production of fluid and pus.45 Pus contains enzymes that rapidly destroy articular cartilage, causing irreversible joint damage.45 Permanent joint destruction can result in as little as 3 days.45 Any joint may be affected, but about 80% of cases are located in the lower extremity with the hip (in the young child) and the knee (in the older child) being the most common locations.65,109,138 Because of the lax nature of the surrounding musculature in neonates, the presence of joint effusion may lead to subluxation or dislocation of the affected joint.156 In a newborn the cartilaginous femoral head can be completely destroyed, requiring salvage procedures later in life. Damage to the epiphysis may cause trochanteric overgrowth and leg length discrepancy when the growth plate is damaged.45 Also, the intra-articular pressure may be increased by the accumulation of inflammatory exudate causing vascular compression that occludes the blood supply to the femoral head, causing avascular necrosis.156 The diagnosis of septic arthritis is based on clinical findings. Septic arthritis is most common in children ages 2 years and younger.156 Clinical presentation for septic arthritis may have many of the same characteristics as osteomyelitis: high fever and chills, unwillingness to use the affected limb, and absence of spontaneous movement, as well as refusal to bear weight on the affected limb.45,158 The affected joint will demonstrate swelling, redness, warmth, and local tenderness.45 Generally, those with septic arthritis are more ill than those with osteomyelitis.158 Table 14.6 describes the different characteristics of osteomyelitis and septic arthritis.158 Laboratory tests of ESR, CRP, and WBC are commonly used tools

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to diagnose septic arthritis.144 Others have suggested that measuring the presence of procalcitonin (PCT) is helpful in differentiating noninfectious inflammation and bacterial infections.144 Chloe et al.31 found the specificity and sensitivity of diagnosis of septic arthritis were greater with PCT and PCT was also 100% accurate in differentiation between gram-negative and gram-positive infections, helping guide antibiotic therapy more quickly. This tool may be more useful, especially in cases involving Kingella kingae.144 TABLE 14.6 Characteristics of Osteomyelitis Versus Septic Arthritis

Fever > 38.5°C Malaise Swollen joint/limited motion Edema overlying bone Back pain Difficulty weight bearing

Osteomyelitis Suggestive if present Usually Not unless concurrent arthritis Often Suggestive of spinal osteomyelitis Lower limb affected

Septic Arthritis Suggestive Usually Nearly always Absent Rare Lower limb affected

From Pääkkönen M, Peltola H: Bone and joint infections. Pediatr Clin N Am 201360:425-436.

Radiographs are of lesser importance in septic arthritis because they will show an enlarged joint space at most.158 Ultrasonography is helpful to identify small joint effusions and can guide joint aspiration.45 A bone scan may also help diagnostically to determine diffuse uptake within the joint in the early phase or a rise in intraarticular pressure.45 The MRI is considered the most accurate diagnostic tool and provides the best anatomic detail.144,158 Joint aspiration is imperative for the diagnosis and should not be delayed if septic arthritis is suspected.158 The aspirated fluid should be cultured, and drainage and appropriate intravenous antibiotics should be started quickly.45,133 Intravenous antibiotic therapy is recommended until improvement in clinical signs is seen; at that time, oral antibiotics may be used.133

Transient Synovitis Transient synovitis of the joint is a common cause of lower extremity pain, specifically the hip, in children between the ages of

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3 and 8 years. It presents itself as a rapid onset of hip pain, limited joint ROM, and limping (or an inability to walk, if the condition is severe).85 The child may have a history of an antecedent viral illness,85 and the resulting effusion of the joint leads to a position of hip flexion and external rotation.11 Reports have also shown referred pain in the knee with transient synovitis.120 Males are also more likely to develop transient synovitis.11 In 1999, Kocher et al.117 established a clinical algorithm to differentiate cases of septic arthritis from those of transient synovitis in 99.6% of cases. These variables were confirmed as highly predictive in a separate study published in 2004.116 This clinical algorithm found that when four specific variables were all present, the diagnosis of septic arthritis could be confirmed at a very high rate. When only some of the variables were present, there was less certainty in diagnosing septic arthritis versus transient synovitis. These four variables are: history of fever of ≥ 38.5°C, inability to bear weight, ESR ≥ 40 mm/hr, and serum WBC of > 12,000 cells/liter.117 A fifth predictor, CRP ≥ 20 mg/L was later also used.210 Sultan and Hughes210 have since found a lower rate (59.9%) of success using this algorithm, although fever was still the best predictor. Radiographs are normally unremarkable, and ultrasound examination of the affected hip may show effusion.85 The concern is that septic arthritis and transient synovitis could present very similarly, and caution and care should be used in diagnosing the problem. Some children will have recurrent problems, and a small percentage will develop Legg-Calvé-Perthes disease.123,219 Intervention is generally symptomatic, consisting of limitation of activity, bed rest, and avoidance of weight bearing in combination with the use of nonsteroidal anti-inflammatory medications. Light traction during bed rest may be of benefit, and routine aspiration of the joint has also been beneficial.85 Clinical symptoms will usually resolve within 10 days.85

Occult Fractures By definition an occult fracture is a fracture that cannot be detected by standard radiographic examination until weeks after the onset.146 In children, several variables may limit the finding of the problem:

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minor trauma that may not be merited consideration by the parents, poor localization of pain by young children, difficulty with communication with child, unexplained trauma history, and physician oversight.32 Common areas of involvement are elbow, knee, ischium, distal fibula, proximal femur, and humeral shaft.32 Upon presentation, pain and swelling may be present; generally, radiographs are negative for 2 to 3 weeks. Ultrasound has been found to be advantageous in the early diagnosis of both soft tissue and bone injuries.32,151 Especially in the skeletally immature, ultrasound can identify discontinuity in the cortex but cannot visualize intraosseous deformities.32 Also, the ultrasound can be done without sedation and with some movement by the child, making it clinically less difficult than an MRI, the gold standard.32 Diagnosing the fracture early will allow for better intervention and prevention of complications such as slower healing times, growth arrest, fracture deformity, and pain.32

Kohler Disease Kohler disease is an osteochondrosis of the navicular bone of the foot. Generally, patients present between 2 and 8 years of age, and boys are 3 to 5 times more likely to be affected.215,216 It was first described by Alban Kohler, a German radiologist.228 The condition occurs when the navicular bone temporarily loses its blood supply. The child usually has localized pain in the area of the navicular bone and a limp. There is usually no history of previous trauma. Point tenderness may be present over the navicular bone on examination.216 There may also be mild swelling and warmth over the dorsal midfoot.19 Radiographic changes may be visible and include navicular sclerosis, flattening, and fragmentation.19 These cases have all shown good resolution, with no clinical or radiologic abnormalities seen in adulthood.190 A short leg cast for up to 8 weeks may accelerate the resolution of symptoms, although longterm outcomes are good regardless of intervention.216

Legg-Calvé-Perthes Disease (LCPD) Legg-Calvé-Perthes disease (LCPD) is a condition that occurs in children, who may receive referrals for physical therapy for

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resulting muscle weakness, ROM limitations, and gait deviations. By definition, LCPD is a condition in which an avascular event affects the capital epiphysis (head) of the immature femur. After this event, growth of the ossific nucleus stops and the bone becomes dense. This dense bone is then resorbed and replaced by new bone. As this occurs the mechanical properties of the femoral head change such that the head tends to flatten and enlarge. Once new bone is in place, the head slowly remodels until skeletal maturity is achieved.82 The onset of LCPD is between 18 months and skeletal maturity with cases most often between 4 and 8 years of age.12,225 Boys are 4 to 5 times more likely to develop the disease than girls.12,82,225 It is found bilaterally in 10 to 12 percent of patients.82,225 About 35% of children with unilateral Perthes disease also demonstrate changes in the unaffected proximal femur on radiographs, including small epiphysis, flattening of the epiphysis, contour irregularities, and changes in the growth plate.108 Recurrent cases of LCPD have been noted and generally will have a poor prognosis because the entire femoral head is generally involved and recurrence occurs when the child is older.226 The etiology of LCPD is multifactorial.82,225 Vascular factors include both arterial supply and venous drainage.82,225 The medial femoral circumflex artery is the principal vessel in the complex vascular distribution in the neck and head of the femur. Also, the vessel advances between the trochanter and the capsule, which is a narrow passage and is particularly constricted in children less than 8 years of age.82 A synovial intracapsular ring comprised of four ascending cervical arterial groups has also been found to be incomplete in the younger group as well.82 When the arterial flow is obstructed or compromised, as has been noted in patients with LCPD, avascular necrosis will obviously occur at the femoral head. An abnormal venous drainage through the medial circumflex vein of the head and neck of the femur has also been noted with LCPD.82 Findings of an increased venous pressure in the affected femoral neck and associated venous congestion in the metaphysis as well as more distal exit of venous outflow through the diaphyseal veins have also been noted in cases of LCPD.82 The presence of this obstruction in the venous flow in this population would suggest it

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is at least a contributing factor in LCPD.82 Coagulation factors also contribute to blood flow in this population.82,225 Children with changes in clotting properties commonly show avascular changes at the femur including hemoglobinopathies (i.e., sickle cell disease, thalassemia), leukemia, lymphoma, idiopathic thrombocytopenic purpura, and hemophilia.82 Also, increased blood viscosity has been noted in patients with LCPD.82 Abnormal thrombus formation has been documented in LCPD, specifically with deficiencies in proteins C and S and in the presence of hypofibrinolysis, which then results in venous hypertension and hypoxic bone death.82 Children with LCPD also seem to present with similar growth and development abnormalities.82,225 Most commonly a delay in bone age relative to the child’s chronologic age is seen.82,225 Those who are diagnosed with the disease before age 5 years tend to normalize during adolescence while those diagnosed at an older age tend to have a smaller stature throughout life.225 Also, the birth weight of children with LCPD is lower than unaffected children.82 Growth hormone, specifically somatomedin C insulin-like growth factor-1 (which is responsible for postnatal skeletal bone maturation), has also been noted to be lower in those with LCPD.82,225 These levels generally increase as children age, but this increase is not seen in the group with LCPD.82 Other common influences have also been noted. Trauma may be a factor in the child who may already have some predisposition to LCPD (17%).82,225 Many of the children have been noted as hyperactive or having attention deficit hyperactivity disorder.82,225 Environmental commonalities of urban living and lower socioeconomic groups have been found with possible link to nutrition status and secondhand smoke, which are known to affect stature and growth.82,225 A higher frequency of occurrence is found among the Japanese, other Asians, Eskimos, and Central Europeans, and a lower frequency in native Australians, Americans, Indians, Polynesians, and persons of African origin.225 Genetic factors have been speculated but not conclusive of effect of heredity versus environment.82 Perinatal HIV infection is also a risk factor for osteonecrosis.59 Further examination of affected femurs has shown the epiphyseal cartilage to contain high proteoglycan content, a decrease in

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structural glycoproteins, and different size collagen fibrils compared with normal tissue, suggesting that the disease could be a localized expression of a generalized transient disorder responsible for delayed skeletal maturation.226 These abnormalities can be primary or secondary to the ischemia, but collapse and necrosis of the femoral head could result from the breakdown and disorganization of the matrix of the epiphyseal cartilage, followed by abnormal ossification.226 The exact cause is unknown, but it occasionally follows repeated episodes of transient synovitis of the hip. Increased joint pressure secondary to synovitis may be one of the pathologic processes that causes an interruption of blood flow in vessels ascending the femoral neck. Patients most commonly present with an insidious onset of limp, demonstrating an abductor limp. Pain will be described as activity related and relieved by rest. Commonly, pain is localized to the groin, anterior hip region, or laterally around the greater trochanter and may be referred to the anteromedial thigh or knee. Knee involvement when pain is present should be ruled out in a clinical examination because pain in the knee is a fairly common pattern with hip issues. Because of the mild nature of the symptoms, patients may not present for medical evaluation for weeks or months after the onset. ROM is limited in the directions of abduction and internal rotation. Early in the course of the symptoms the limited motion is related to synovitis and spasms in the adductor group, but the limitation may progress with tightening of the soft tissue structures.225 Limb shortening will be present in cases of significant collapse of the femoral head225 and with premature closure of the proximal growth plate of the femur.162 In order to best predict the prognosis and make decisions on necessary interventions, classification of the hip is of great value.139 Currently, the Herring lateral pillar classification is commonly used and demonstrates strong predictive value.86 Using this system, patients are placed in categories of group A, B, or C based on the involvement of the lateral pillar (the lateral 5 to 30 percent of the femoral head on an AP radiograph).29 Group A hips do not involve the lateral pillar, group B hips have limited involvement with maintenance of over 50% of the lateral pillar, and group C hips

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have over 50% collapse of pillar height.29 Group B/C has also been added, defining the lateral pillar as narrowed or poorly ossified with approximately 50% of height maintained. The Stulberg classification system is used to describe the hip at skeletal maturity.29,139 This system is based on the deformity of the femoral head and congruity in relation with the acetabulum.29,139 Class I is defined by a normal spherical head, class II by a spherical head with coxa magna/breva or steep acetabulum, class III by nonspherical head, class IV by a flat head and flat acetabulum, and class V by aspherical incongruence.139 Also, four stages of LCPD can be described radiographically.82 These can be described as follows: Initial stage: Early signs include lateralization of the femoral head with widening of the medial joint space and a smaller ossific nucleus. Later signs include subchondral fractures and physeal irregularity. This phase normally lasts a mean of 6 months. Fragmentation stage: Radiolucencies develop in the ossific nucleus; a central dense fragment becomes demarcated from the medial and lateral segments of the femoral head. End of the stage shows appearance of new bone in the subchondral sections of the femoral head. This phase lasts a mean of 8 months. Reossification (healing) stage: New subchondral bone is seen in the femoral head. Reossification starts medially and expands laterally. This phase lasts until the entire head has reossified and lasts a mean of 51 months. Residual stage: Femoral head is fully reossified with gradual remodeling of the head shape until skeletal maturity. This shape may vary from completely normal to extremely flat and aspherical. Overgrowth of the greater trochanter may be seen because the disease has disrupted growth of the capital physis. Intervention of LCPD depends on the age and stage of presentation. The primary goals are to prevent deformity and stop growth disturbance and consequently prevent degenerative joint disease.225 Some speculation is used in the formulation of intervention algorithms because the natural history of the condition is not well known.29,225 Generally, 60% of patient with LCPD do not need intervention.225 Those with early onset have a better prognosis.29 A study by Herring et al.182 identified three prognostic

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conclusions in a study of 438 patients: 1. Children with symptom onset prior to 8 years of age have good results regardless of intervention. 2. In children with onset after 8 years of age with at least 50% lateral pillar height maintenance (Herring groups B and B/C), operatively managed hips had better outcomes than nonoperatively managed hips. 3. Children with hips in Herring group C with greater than 50% collapse of lateral pillar height had poor outcomes regardless of intervention. Prior to age 4 years, observation is generally recommended.29 Most children will present at 4 years or older.29 In these cases the first goal is to reduce the synovitis and symptoms.82,29 One primary focus during this time is to restore motion.225 Interventions to assist in this stage include limitation of activity, nonsteroidal antiinflammatory drugs, light skeletal traction, and physical therapy for ROM.29,82,225 Most see resolution of symptoms in 7 to 10 days.225 This may be the only intervention needed in those patients with group A disease or those with group B disease who are under 8 years (Herring lateral pillar classification).82,225 For those in the fragmentation and reossification stages, impaired hip motion is often due to deformity of the femoral head, and further intervention may be needed.82 Containment is an important principle of intervention for LCPD.225 This describes preventing deformities of the diseased epiphysis by containing the anterolateral part of the avascular capital femoral epiphysis within the depths of the acetabulum, thereby equalizing the pressure on the head and allowing the molding action of the acetabulum to occur.225 If supported in the acetabulum, weightbearing forces and muscular stresses across the femoral rim will not deform the femoral head.106 It reduces the forces through the hip joint by actual or relative varus positioning.225 Full abduction to 45° is recommended for containment, although at least 30° may show favorable results in those with limitations.25 Containment can be achieved through nonoperative or operative methods.82,225 One method of nonoperative containment is bracing. Currently, this is being chosen less by orthopedic surgeons.82,139,225 The

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literature has not supported its efficacy.139 In cases where it is still used, the Atlanta Scottish Rite brace (Fig. 14.28) is generally used. It consists of a metal pelvic band, hip hinges, thigh cuffs, and an extensible bar between the thigh duffs permitting abduction of the limb but restricting adduction.82 For mild cases the protocol is to wear the brace during the day and remove it at night, and in more advanced cases the brace may be worn 24 hours a day until there is evidence of new bone formation.82,225 Casting the lower extremities and using bars between the legs so that the hips are abducted to 45° and rotated internally 5° to 10° is another option.82 The casts would need to be changed every 3 to 4 months until the femoral head was in the healing stage, possibly 19 months. This may be most useful in older patients whose ROM is too restricted and painful to allow proper positioning of the femoral head in a brace.82 Surgical containment is advocated by many studies due to positive results as well as the advantage of early mobilization and the avoidance of prolonged bracing or casting.225 This seems to be the preferred intervention in those who have a group B or B/C lateral pillar classification and those who are over 8 years of age.114,139 The timing of the surgery should also be considered. Some recommend that surgery be performed within 8 months of the onset of symptoms.129 Others have reported that premature physeal closure may occur if the femoral osteotomy is performed too early or too late in the process.13 Femoral osteotomies have the best results when performed in the initial or fragmentation stage of the disease.82,225 In cases of hinge abduction, the femoral head cannot be contained conservatively, and serious damage may occur if this is attempted.225 Hinge abduction occurs when the deformed femoral head impinges on the lateral margin of the acetabulum during abduction of the hip. Performance of femoral osteotomy can reduce the impingement.139 During this procedure, trochanteric epiphysiodesis is also recommended to prevent overgrowth and resulting abductor weakness.29,82

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FIG. 14.28 (A–B) Atlanta Scottish Rite orthosis used

for treatment of LCPD. (From Hsu JD, Michael J, Fisk J: AAOS atlas of orthoses and assistive devices. 4th ed. Philadelphia, Mosby, 2008.)

Performance of an innominate osteotomy has a smaller result of limb shortening compared to femoral osteotomy.82 This procedure assists with recontainment by redirecting the acetabulum, providing better coverage for the anterolateral portion of the femoral head.225 For best results the femoral head should be minimally deformed, no significant restriction of ROM should be present at the hip, and it should be early in the course of the disease.82,225 A procedure combining femoral and innominate osteotomy is an option in severely affected hips.82,225 The dual approach may provide better containment than either procedure alone.82 Another option is shelf arthroplasty. This option is being proposed as a primary method of management in children over 8 years of age in groups B or C with a reducible subluxation.225 The advantage of this procedure may be better coverage of the anterolateral portion of the head allowing better remodeling, prevention of subluxation, and prevention of lateral overgrowth of the epiphysis.225 Generally, the time frame from initiation to complete healing is a median of 2.8 years.106 Many progress through the stages of this disease without complications in later life, although deformation of the epiphysis can occur during the process of revascularization, resulting in degenerative arthritis in later years.106 The physical

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therapist should be in communication with the orthopedist during the course of this child’s treatment to determine if any precautions should be taken. Intervention will generally focus on mobility, strength, and gait.

Discoid Lateral Meniscus Menisci are C-shaped fibrocartilaginous structures between the tibial plateau and the femoral condyles that are important for shock absorption, load sharing, reduction of contact stresses, and stability within the knee joint.192 The lateral meniscus generally covers a larger portion of the tibial plateau than the medial side.35 A discoid lateral meniscus is an abnormal variant in which the central area is completely filled rather than the normal C shape.78 Also, the outer rim of the discoid meniscus is much thicker than the normal meniscal rim.78 This condition is present in 1% to 3% of the pediatric population and is bilateral in 10% to 20%.78 A discoid medial meniscus is much less common, with an occurrence of 0.12%.61 The cause of a discoid meniscus is thought to be multifactorial.78 It may simply be a congenital anomaly or malformation, but a genetic factor does seem present as well as a higher incidence in the Asian population.61,78 Generally, children with a discoid meniscus will present between the ages of 5 and 10 years with a snapping knee joint that is both heard and felt by the child or parent.78 This may coexist with any combination of pain, giving way, effusion, quadriceps atrophy, limitation of motion, clicking, or locking.78 More acute symptoms such as significant pain, knee locking, and inability to put weight on the affected extremity are most likely due to a tear in the discoid meniscus.78 Plain radiographs may show small widening of the lateral joint space but may be normal.78 MRI would be needed for confirmation.78 An asymptomatic knee with an incidental detected discoid meniscus does not require intervention.78 Arthroscopic surgery is usually recommended in cases of mechanical symptoms with emphasis on meniscal preservation and salvage to prevent degenerative changes in the future.78

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Sever Disease Sever disease, or calcaneal apophysitis, is an overuse syndrome caused by repetitive microtrauma at the insertion of the Achilles tendon at the calcaneal apophysis.103,215 Inflammation results from traction between the Achilles tendon and the plantar fascia and aponeurosis and can also involve the bursa.104,215 In rare cases, calcaneal apophysitis without intervention can cause calcaneal apophyseal avulsion fractures at the point of attachment.104 This painful condition generally presents in children ages 8 to 15 years but can be present as young as 6 years.104 This timing coincides with the presence of the calcaneal growth apophysis, which appears at about 7 years of age and fuses in girls at approximately 13 years and in boys at 15 years.103 Symptoms are generally pain in the heel, especially with activity and greater with running and jumping with more strain at the Achilles applied. Local tenderness is present at the heel and pain may be reproduced with resistance of plantar flexion. Factors that may predispose the development of this disorder include: growth and gastrocnemius/soleus tightness with more tension at the Achilles; cavus or planus foot type causing more strain due to harder heel strike, infection, trauma, and obesity.103 The condition is usually self-limiting. Conservative intervention is recommended and includes rest, ice, heel cups, heel lifts, reduced activity, and Achilles tendon stretching exercises. In cases of severe pain a short leg walking cast may be helpful. TABLE 14.7 Diagnostic Criteria for Growing Pains197,198 Characteristics Inclusion Criteria of Pain Nature of pain Intermittent Some pain-free days and nights; generally occurs once or twice per week with duration of 30–120 min Totally pain free between the episodes Unilateral or Bilateral bilateral Location of Anterior thigh, calf, popliteal fossa, pain shins Time of day Evening and nights

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Exclusion Criteria Persistent Increases in severity with time

Unilateral Pain in joints Night pain that remains in morning

Physical examination

Normal

Diagnostic tests

Normal

Limitation of activity

None

Signs of inflammation: swelling, tenderness, local trauma or infection, reduced joint ROM, limping Objective findings on x-ray, bone scan, or laboratory testing Reduced physical activity

ROM, range of motion.

Growing Pains By definition, growing pains are a clinical presentation of pain in the legs.55,143 The diagnosis is made by several inclusion and exclusion criteria (Table 14.7). No specific testing is recommended but used to rule out more serious conditions. The prevalence rate of growing pains has varied with many variables in the reporting standards. Kaspiris and Zafiropoulou111 found a prevalence of 24.5% among 532 children of age 4 to 12 years. Evans and Scutter56 found a rate of 36.9% in children aged 4 to 6 years. No specific etiologies of growing pains have been identified but theoretical factors include: anatomic factors (e.g., posture, flat feet, genu valgus, scoliosis, decreased bone strength, altered vascular perfusion, joint hypermobility), fatigue or local overuse syndrome, psychological factors, and lower pain threshold.55,143 Reassurance of the benign nature of the condition, symptomatic intervention using massage, nonsteroidal anti-inflammatory medications, muscle stretching, and time usually resolve the symptoms.55,143 Another intervention theory is the use of vitamin supplementation in areas of deficiency.143

Slipped Capital Femoral Epiphysis (SCFE) Slipped capital femoral epiphysis (SCFE) is the displacement of the femoral head relative to the femoral neck and shaft. The term slipped capital femoral epiphysis is technically incorrect because the femoral epiphysis maintains its normal relationship within the acetabulum but the femoral neck and shaft move relative to the femoral epiphysis and acetabulum.84,112 The femoral proximal femoral neck and shaft generally displace anteriorly and superiorly (externally rotate) in relation to the femoral head.84,112

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The incidence rate of SCFE is 2 per 100,000 globally54 and 10.80 per 100,000 in the United States.125 Also, in the United States there is a 3.94 times higher rate in black children and 2.53 higher rate in Hispanic children when compared to white children.125 The presence in boys (13.35 per 100,000) is higher than girls (8.07 per 100,000).125 Another factor found in the demographic data was climate.23,125 An increased incidence is noted north of 40° latitude during the summer and south of 40° latitude during the winter.125 Possible reasons for this include seasonal changes in activity, seasonal patterns of growth and weight gain in adolescence, and vitamin D deficiency caused by decreased cutaneous synthesis during the winter.23,125 The age on onset is peripubertal. The average age of onset in boys is 14 years and in girls is 12 years.84 If an onset occurs before the age of 10 years or after the age of 14 years in girls and 16 years in boys, the clinician should suspect an underlying metabolic or systemic condition as a causative factor.112,125 Also of note is that older children generally have more severe slips.128 The trend has been for the onset to be at a younger age, which is postulated to correlate with earlier children maturation.161 Eighty percent of cases are unilateral.112,125 More than 80 percent of the children diagnosed with SCFE are reportedly obese (body mass index greater than the 95th percentile).136 This factor is of great concern because of the increasing rates of childhood obesity that are present and may affect the increasing incidence of SCFE.149 Obesity may increase the risk of SCFE as a result of both higher mechanical loads across the femoral physis and a metabolic disorder.154 Obese children are noted to have decreased femoral anteversion63 and a more vertical-oriented proximal femoral physis.142 SCFE may be classified by the onset of symptoms or the degree of displacement of the capital femoral epiphysis on the femoral neck.84 Classification by onset of symptoms is divided into three subtypes84: 1. Acute: Occurs suddenly with trauma generally not considered significant enough to result in fracture (e.g., twist of fall). Patient experiences pain in groin, thigh, or knee. This is usually a severe, fracturelike pain. Usually the patient is unable to bear weight and will report quickly for medical care. The position of comfort is usually lying with the affected limb in external rotation. Moderate

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shortening of the limb is apparent upon examination. Symptoms must be present for less than 3 weeks to be considered acute. 2. Chronic: This is the most frequent form. Adolescent presents with a few months’ history of vague groin pain, upper or lower thigh pain, and a limp. Pain may be intermittent or constant and is exacerbated by running or sport activity. The patient generally holds the affected limb in position of external rotation. Thigh atrophy may be apparent in unilateral cases. Local tenderness will be present anteriorly over the hip joint. Loss of hip motion, especially hip internal rotation, flexion, and abduction, may be present although hip extension, external rotation, and adduction may be increased. Shortening of the limb by 1 to 2 cm may be noted. 3. Acute-on-chronic: The patient has already experienced some aching in the hip, thigh, or knee for weeks or even months as a result of a slip. Then, a sudden exacerbation of pain occurs with a further displacement of the epiphysis. The presence of these symptoms when presenting to a rehabilitation professional warrants significant concern. Some advise that any patient between the ages of 10 and 16 years who presents with a limp and pain in the groin, hip, thigh, or knee should be considered to have an SCFE until a differential diagnosis is made.112 No weight bearing should be allowed until a medical examination and definitive diagnosis can take place.112 When the child presents in this manner, the clinician should limit the PT examination in order to limit the possibility of further damage. As with LCPD, the presentation of knee pain may be the primary complaint due to referral from the hip. A second classification categorizes SCFE by the degree of displacement of the capital femoral epiphysis on the femoral neck.84 By the Southwick method, mild slips are defined as a head-shaft angle less than 30°, moderate slips are angles between 30 and 60°, and severe slips have an angle more than 60° from the contralateral normal side.84 Fig. 14.29 demonstrates this measurement. The etiology of SCFE is multifactorial. Three mechanical factors are thought to predispose a child to SCFE.84 The first of these is the thinning of the perichondral ring complex (structure surrounding the physis) that occurs with maturation. The strength of this

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structure may be affected by endocrinopathies (most commonly hypothyroidism), abnormalities requiring growth hormone administration, and chronic renal failure (with secondary hyperparathyroidism).84,112 A second mechanical factor is relative or absolute femoral retroversion.84,112 With this position an increased shear force is present across the proximal femoral physis.84,112 A third factor is a decreased femoral neck-shaft angle with a more vertical physis present. This position increases the shear force across the physis.84,112 A deeper acetabulum seems to also be a risk factor.112 When the capital femoral epiphysis is anchored more deeply in the acetabulum, forces across the physis may be increased, especially at the extremes of motion. Another factor may be genetics, but this has not been confirmed.112 Obesity is a factor that must be considered also.84,112 Some of the endocrine changes may increase the presence of obesity and add to the risk. Chung et al.33 found that mechanical forces across the femoral head during gait reach as high as 6.5 times body weight, and these forces may result in SCFE in a patient who is obese. Also, others report that the combination of proximal femoral varus and retroversion in a child who is overweight could result in forces leading to SCFE.60

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FIG. 14.29 Southwick method of measuring the head-

shaft angle for determination of the severity of SCFE. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

In most cases, plain anteroposterior and lateral radiographs will

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confirm the diagnosis of SCFE.84,112 On the anteroposterior view, widening and irregularity of the physis will be seen early, even before much displacement of the femoral neck and shaft (sometimes termed “preslip”).84,112 A decreased height of the capital femoral epiphysis when the epiphysis lies posterior to the femoral neck may also be visible.112 In a normal hip a line drawn tangential to the superior femoral neck (Klein line) intersects a small portion of the lateral capital epiphysis.84 When a slip occurs, this line will intersect a small portion of the epiphysis or not at all.84 This can be viewed in Fig. 14.30. Lateral views may be more useful in detecting smaller slips.112 The frog-leg lateral view may be difficult due to pain when positioning the child.112 When the slip is acute, little or no remodeling of the femoral neck is present on radiographs and only the displacement will be visible.84 CT of the upper femur may be helpful in identifying the anatomy and the decreased upper femoral neck anteversion or true retroversion.84,112 CT may be helpful throughout the intervention process in determining if physeal closure has occurred and also postoperatively to determine whether penetration of the hip joint has occurred with the fixation devices.84,112 Ultrasound is not commonly used for SCFE but may be an option in the absence of radiographic findings, although an MRI is often chosen.112 An MRI does have a high specificity for finding avascular necrosis and also is helpful in identifying physeal widening, osseous edema adjacent in the physis, and anatomic deformities.112 Bone scans also can identify avascular necrosis and chondrolysis.

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FIG. 14.30 Anteroposterior radiographic findings of a

normal hip (A) and a hip with mild chronic slip (B). (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

The goals of intervention for SCFE are to keep the displacement to a minimum, maintain motion, and delay or prevent premature degenerative arthritis. When a child is suspected to have SCFE, immediate referral with radiology testing is recommended.84,112 Once the diagnosis has been confirmed, absolutely no weight bearing is recommended because this can lead to osteonecrosis.112 Spica casting is rarely used currently due to the difficulty with stabilization, the length of the intervention (over 100 days), and the complications.112 Options for surgical management include in situ internal fixation or pinning, bone graft epiphysiodesis, and primary osteotomy through the apex or base of the femoral neck or intertrochanteric area (with or without fixation of the epiphysis to the femoral neck).84,112 The goal of in situ pinning is to prevent slip progression.84,112 This procedure may use one or multiple pins to provide stabilization. The screws should be placed as close to the center of the capital epiphysis as possible but remain extra-articular (Fig. 14.31). The screws do not have to routinely be removed and are generally left when asymptomatic. This is considered the intervention of choice in cases of stable SCFE regardless of the severity and also in unstable slips although the exact placement and number of pins may be altered.84,112 Postoperative management

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allows those with stable slips to bear weight as tolerated and use crutches as needed. Limited weight bearing is recommended for 3 to 6 weeks in those with unstable slips. These patients can be monitored by radiographs to confirm physeal closure, and return to sporting activities is generally allowed between 3 and 6 months for stable slips and 4 and 6 months for unstable slips.84,112 Bone graft epiphysiodesis may be considered in more severe cases in which the insertion of the screw would require exiting the posterior femoral neck and reentering the capital epiphysis to stabilize.84 Recovery for those with acute slips includes the possibility of traction or hip spica cast until early healing is present, possibly 3 to 6 weeks, with no weight bearing for 6 to 8 weeks.84,112 In those who have stable slips, toe-touch weight bearing with crutches may begin 2 to 3 days postoperatively and progressed with physeal healing (6 to 12 weeks).84,112 An osteotomy may be chosen when a chronic or healed slip has resulted in a head-shaft deformity between 30° and 70° as this allows correction.84 Following this procedure, patients are allowed protected toe-touch weight bearing until healed.84

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FIG. 14.31 Placement of screws in the treatment of

SCFE should be near the center of the epiphysis but remain extraarticular. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

Complications of SCFE are avascular necrosis and chondrolysis.54,201 Avascular necrosis of the femoral head is more frequently associated with acute and unstable slips and is most likely due to vascular injury associated with the initial femoral head displacement, with more severe steps exhibiting greater involvement of the vascular supply.201 Additional problems can occur with aggressive manipulation of the femoral head or

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penetration of the fixation device in the posterior cortex of the femoral head or articular surface.201 Intervention should be directed at maintaining motion and preventing collapse by decreasing weight bearing until healing occurs.201 Chondrolysis is an acute dissolution of articular cartilage in association with rapid progressive joint stiffness and pain.201 Although this can occur in the uncorrected hip,54,201 it has been most often found with manipulative reduction, prolonged immobilization, realignment osteotomies, and pin penetration of the femoral head.201 The rate of these problems has decreased significantly in recent years with improved screw placement.201 The joint space narrows, hip motion decreases, and an abduction contracture may develop.54 Intervention should include modification of activities, use of crutches, gentle ROM to maintain motion, and anti-inflammatory medications.201 Physical therapy may be helpful during this time to keep the patient mobile. A combination of avascular necrosis and chondrolysis is extremely devastating and usually results in hip fusion.54 The risk for development of degenerative arthritis in the hip with SCFE is directly related to the severity of the residual deformity at skeletal maturity.84 Most conditions that do or do not receive intervention will result in some degree of osteoarthritis because of the presence of some biomechanical derangement.112 The complications of avascular necrosis and chondrolysis greatly accelerate the development of osteoarthritis (OA) and may even lead to end-stage OA in adolescence.112 Some studies are being performed to determine if OA may be prevented by restoring more normal proximal femoral anatomy by performing proximal femoral redirectional osteotomies, although long-term follow-up is not available at this time.8

Osgood-Schlatter Syndrome Osgood-Schlatter disease, or syndrome, is characterized by activityrelated pain at the anterior knee due to repetitive traction of the patellar tendon on the tibial tubercle ossification center or apophysis, resulting in inflammation and pain.12 Radiographically, the severity can be classified into three grades: grade I shows slight

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elevation of the tibial tubercle, grade II shows radiolucency of the tibial tubercle, and grade III shows fragmentation of the tibial tubercle.75 Several contributory factors have been suggested, including trauma, local alterations of the chondral tissue,50 and mechanical overpull by the extensor muscles of the knee, which can result in patella alta and traction apophysitis,9,102 eccentric muscle pull and muscle tightness,96 reduced width of the patellar angle,187 and increased external tibial torsion.67 Generally, this condition is seen in the apophyseal stage when the secondary ossification center of the tibial tuberosity appears.75 Because this stage differs in the development of boys and girls, some differences are seen in the age of onset of Osgood-Schlatter syndrome. For boys, common ages are between 12 and 15 years and for girls common ages are between the 8 and 12 years.75 Up to 30% may have bilateral involvement.27 About 50% of all cases are involved in regular athletic activity.12 Osgood-Schlatter syndrome may present as acute, severe pain, causing a child to limp, or may be noted by the child over a period of months as low-grade discomfort, usually brought on by running, jumping, or participation in sports. Direct pressure, such as kneeling, is also painful. Clinically, tenderness at the tibial tubercle and swelling may be seen. This is a self-limiting process that responds to activity modification, nonsteroidal anti-inflammatory medications, and application of ice. Stretching to improve flexibility of hamstrings and quadriceps may reduce symptoms.12 In more severe cases, immobilization for 7 to 10 days may alleviate symptoms.201 The symptoms will generally resolve when the tubercle fuses to the main body of the tibia, usually at around 15 years of age. For those with persistent problems after skeletal maturity, excision of the ossicle and prominence is an option.201

Osteochondritis Dissecans Osteochondritis dissecans (OD or OCD) describes the separation of subchondral bone from the articular surface. It is characterized by a localized necrosis of the subchondral bone, which later revascularizes, reabsorbing and reossifying the bone necrosis.28 Joint damage may occur because these lesions are adjacent to

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articular cartilage.51 The fragment of bone can also detach, becoming a loose body in the joint.51 The actual cause of osteochondritis dissecans is not known although several theories and factors have been proposed.24,233 Repetitive microtrauma, including shear and compressive forces, leads to subchondral bone stress, especially in athletic persons.155 Other factors such as genetic predisposition, ischemia that may be caused by vascular spasm, fat emboli, infection thrombosis, and abnormal ossification seem to play a causative role.87 Patients are typically 12 to 20 years of age87 and the male-to-female ratio is 2:1.178 The most commonly affected areas are the knee (medial femoral condyle), the elbow joint (capitellum), and the talus (superior lateral dome).51 The classic location is the lateral aspect of the medial femoral condyle, possibly a result of the repetitive impingement against the prominent tibial spine.24 Symptoms are a vague, poorly localized knee pain, with recurrent effusion.233 Also loose bodies may result as articular cartilage breaks off causing mechanical symptoms of locking or catching of the knee.233 Antalgic gait and an externally rotated gait pattern may also present.24 Clinical exam may show atrophy of the quadriceps and tenderness along the surface of the affected chondral area with palpation (distal aspect of the medial femoral condyle with the knee flexed to 90°).233 OCD can be diagnosed with radiographs with a radiolucent area identifying an area of the lesion. Multiple views are typically recommended (anteroposterior, lateral, merchant, and notch or tunnel views) because the posterior aspect of the medial femoral condyle is more difficult to visualize.233 MRI is useful in detecting the lesion and also in staging the lesion for determination of intervention.24,233 The preferred intervention in skeletally immature patients with symptomatic yet stable OCD lesions is limitation of weight bearing or even immobilization for 6 to 8 weeks followed by unloader bracing and activity restriction.233 The important thing to communicate to the athlete is that if pain is not eliminated, the lesion is not healing.24 Up to 90 percent of small lesions may heal spontaneously.201 Lesions that fail conservative intervention, large lesions, or unstable OCD lesions may require surgical intervention.233 Surgery may be needed to remove loose

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fragments.51 Also, drilling the necrotic fragment may allow more rapid vascular ingrowth and replacement.51 The drilling provides channels for adequate revascularization and healing. Fixation with hardware and bone graft are also options for stabilization.51,201,233 In lesions that involve a large portion of weight-bearing area, OA is a risk in future years.51

Tarsal Coalition Tarsal coalition is a failure of segmentation between adjoining tarsal bones. Coalitions may exist between all of the tarsal bones, but talocalcaneal and calcaneonavicular coalitions are the most common.26 The etiology seems to have a congenital factor.26,235 It has been found to be bilateral 50% to 80% of the time and occurs in both sexes equally.26 It occurs in less than 1% of the population.26 Symptoms generally present in early adolescence,201 when the abnormal cartilaginous bar begins to ossify. The resulting fusion imposes stress on adjacent joints and consequently may result in degenerative arthritis, pain, and peroneal spasm.201 Specifically, subtalar motion is greatly restricted in the talocalcaneal conditions and moderately limited in calcaneonavicular and talonavicular coalitions.235 This leads to a rigid flatfoot deformity, with significant restriction of inversion.26,235 Radiographs will generally show the bony coalitions with the three standard views of the foot.235 In the fibrous or cartilaginous stages a CT or MRI allows for better definition and also can provide delineation of the extent of joint involvement as well as degenerative changes.235 The goal of intervention is to limit joint ROM to reduce pain and muscle spasms.235 Conservative intervention may include arch supports, short leg walking casts, immobilization in neutral or slight varus positions, and NSAIDs.235 Surgical resection is an option in those who fail conservative intervention.235

Freiberg Disease Freiberg disease is an idiopathic segmental avascular necrosis of the head of a metatarsal.201 Most commonly, this occurs in adolescent girls, ages 13 to 18 years, and involves the second metatarsal.201 It is unilateral in 90% of the cases.12 The etiology is unknown, but factors

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such as trauma, repetitive stress, disruption in blood supply, or improper shoe wear may affect ossification.12 Structural deformities, such as hallux valgus or hallux rigidus, may transfer the weight lateral to the second metatarsal increasing stress as well.189 When microfractures occur at the junction of the metaphysis and growth plate, inadequate circulation to the epiphysis results.222 Clinical presentation generally consists of pain in the forefoot, localized to the head of the second metatarsal, and localized swelling and limitation of motion in the metacarpophalangeal (MP) joint.201,222 Early stages of the disease may not be detected on standard radiographs, and advanced imaging such as MRI or CT may be needed.189,201,222 Later radiographs will show the stages of irregularity of the articular surface, sclerosis, fragmentation, and finally re-formation.189,201,222 Conservative intervention includes offloading the metatarsal with orthotics, metatarsal pads, modified shoe gear, and removable walking boots.189 Generally, this may take a course of 4 to 6 weeks.201,222 If conservative intervention fails, surgical resection of the metatarsal heads is an option.201,222

Accessory Navicular Accessory navicular is an extra bone that develops on the medial side of the tarsal navicular, either within the posterior tibial tendon or as a separate bone.127,201 It is a result of the failure of the secondary ossification center of the navicular to unite during childhood.127 This occurs in about 10% of the population.201 Classification consists of three types: 1. Type I is a small oval to round ossicle within the posterior tibialis tendon that is seldom symptomatic.189,201,222 2. Type II is a larger lateral projection from the medial aspect of the navicular with a clear separation from the navicular.189,222 The fibrocartilaginous connection between the tuberosity from the navicular is disrupted and may be mistaken for a fracture.127,201 These are often symptomatic, and disruptions commonly occur during adolescence in relation to repetitive trauma.127,201 3. Type III occurs when a bony bridge is present between the accessory navicular and the navicular.127 This may represent an end stage of type II127 and may be prominent enough to cause irritation

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of the overlying skin.201,222 Symptoms often begin in childhood with medial pressure of the accessory navicular against the shoe.127 Commonly, the patient will report pain and tenderness along the medial midfoot region.127 Swelling and erythema may also present.127 The symptoms are usually exacerbated with weight-bearing activity.127 Often radiographs are the only imaging modality needed for diagnosis.127 Conservative intervention is directed toward relief of symptoms. Wider, more comfortable shoes to off-load the medial midfoot as well as orthotics may be helpful. Casting can limit pull of the posterior tibial tendon.127 Activity modification is also recommended along with NSAIDs.127 Surgical excision of the accessory navicular can be performed in extreme cases.127

Additional Causes of Limp Other orthopedic conditions that can cause an acute limp in children from birth to age 5 years include juvenile idiopathic arthritis (see Chapter 7), nonaccidental trauma (fractures or soft tissue injuries), hemophilia, discitis, discoid meniscus, popliteal cysts, foreign bodies, and bone tumors. Patellofemoral pain and recurrent patellar subluxation or dislocations are common causes of limp in ages 10 to 15 years (see Chapter 15 for a more detailed discussion). Monoarticular inflammatory arthritis and gonococcal arthritis also can cause acute onset of limp in a child. Many types of neoplasms and related bone lesions can cause a child to limp. Commonly seen conditions include osteoid osteoma, unicameral bone cyst, osteochondroma (single or multiple), enchondroma, aneurysmal bone cyst, eosinophilic granuloma, and nonossifying fibroma. Symptoms may include limp, pain, and pathologic fracture through the lesion.201,222

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Hemangioma/Vascular Malformation A hemangioma is an abnormal proliferation of blood vessels that may occur in any vascularized tissue. Hemangiomas that affect the musculoskeletal system are more accurately termed vascular malformations. Vascular malformations are rare congenital lesions that are caused by a defect during vascular embryogenesis. By definition, they are always present at birth but are not always clinically evident until later in life.124,132 Skeletal changes are commonly seen with vascular malformations, although they are rarely seen with hemangiomas.132 At birth, vascular formations are fully formed, although the lesion may not be clinically apparent.124,132 This type of lesion may appear later because of vessel dilation or hematoma formation, resulting in rapid enlargement.132 Males and females are equally affected.132 Vascular malformations can be subclassified by the predominant type of vessels found within the lesion (i.e., venous, arterial, lymphatic, capillary, or mixed) and by blood flow within the lesion (i.e., high flow versus low flow).132 Venous malformations often remain asymptomatic although complications may include pain secondary to vessel dilation, bleeding, and hematoma formation, as well as intra-articular involvement, hemarthrosis, pathologic fractures of bone, and compression of adjacent structures.124,132 They may also result in skeletal and soft tissue undergrowth or overgrowth in an affected limb.132 Deep arteriovenous malformations can progress to distal ischemia, pain, and necrosis, with consequent risk for fracture, related to arterial steal of the bone.132 The involvement of bone occurs in 20% of those with vascular malformations.22 Diagnostically, the first step in the imaging workup should be an ultrasound and Doppler examination.124 This testing will allow immediate differentiation of the type of blood flow in the lesion.124 In cases of low-flow malformations, an MRI is recommended, which helps confirm, characterize, and differentiate the malformation for planning of intervention.124 If a high-flow lesion is detected, CT or CT angiography (CTA) may be used because they allow for accurate measurement and mapping of the feeding and

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draining structures and involvement of adjacent structures, which will help in interventional radiologic or surgical planning.124 Intervention of these lesions varies widely with the extent of involvement. Conservative intervention is recommended when possible and included symptomatic intervention with compression stockings and analgesia.22 Some cases may require surgical resection and/or intralesional transarterial embolization and amputation when involvement of muscle or bone has resulted in pain, functional impairment, or pathologic fracture.22 Epiphysiodesis may be required in cases of skeletal overgrowth to correct for leg length discrepancy.132

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Miscellaneous Conditions Back Pain The presence of back pain in children should be considered carefully because it can indicate serious disease in children.212 Besides mechanical causes, pain could be the result of infection (including discitis related to bacteria), bony and spinal neoplasms, autoinflammatory and autoimmune causes such as chronic recurrent multifocal osteomyelitis, spondyloarthropathies that could progress to ankylosing spondylitis, vasculitis, or reflex neurovascular dystrophy that can manifest as back pain.212 Findings that indicate further investigation include fever, weight loss, nighttime pain or pain that awakens the child from sleep, neurologic deficits, worsening pain over time, or inflammatory back pain.212 The incidence of nonspecific low back pain in adolescents has been reported as high as 74%.105 Among mechanical causes that should be considered are spondylolysis (unilateral fracture of the pars interarticularis), Scheuermann disease (increasing thoracic or thoracolumbar kyphosis with tightness of the hamstrings and iliopsoas), sacroiliac dysfunction, and apophysitis (growth plate irritation from chronic repetitive stress localized to the iliac crests or ischial tuberosity).212 Specifically, Scheuermann disease is a disturbance of the vertebral end plates causing anterior vertebral body wedging that results in kyphosis during a growth spurt.12 Surgery is considered only in severe cases (greater than 75°, pain, unacceptable appearance).12 Another factor that has been found to directly affect the incidence of low back pain is BMI.5,197 Akdag et al.5 found that a BMI of 19.84 kg/m2 was a significant factor for pain intensity in a population of children ages 10 to 18 years. Others determined that the likelihood of joint pain increased by 10% for every 10-kilogram increase of weight and an increase of 3 percent for every unit increase in BMI.207 A detailed review of spinal conditions may be found in Chapter 8.

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Idiopathic Toe-Walking Toe-walking that persists after the age of 2 years in the absence of neurologic or orthopedic abnormalities is termed idiopathic toe walking (ITW).220 The incidence of ITW has been reported as nearly 5%.53 Generally, it is a diagnosis of exclusion, ruling out neurologic involvement (ankylosing spondylitis, cerebral palsy, CharcotMarie-Tooth disease, muscular dystrophy, spina bifida, tethered cord syndrome, transient focal dystonia), neurogenic and developmental disabilities (Angelman syndrome, autism spectrum disorders, developmental coordination disorder, global developmental delay, schizophrenia), and traumatic or biomechanical conditions (soft tissue injuries, congenital talipes equinus, leg length discrepancy, puncture wounds, scarring, tumor in belly of gastrocnemius muscle, venous malformation of the gastrocnemius muscle, viruses).231 No known cause has been identified for ITW but a family history is common220,231 and a possible autosomal dominant genetic link has been suggested.231 Initially, children with ITW walk on their toes but can bear weight with their foot flat on request and with concentration on their gait.220 Over time, an equinus contracture, defined as a limitation of at least 10° of passive ankle dorsiflexion with the knee extended and the ankle in neutral position, may develop.220 If not corrected, the contracture can develop into acquired flatfoot, metatarsalgia, diabetic foot ulceration, and plantar fasciitis.220 Intervention for ITW may vary due to lack of evidence for effectiveness of intervention.85,220 Generally, it improves without intervention.85,220 Conservative measures may include stretching of the plantar flexors including passive stretching, prolonged ankle foot orthosis, serial casting, and/or Botox injections.220,231 Surgical lengthening of the Achilles tendon may often be performed in cases that persist.85,220,231

Achondroplasia Achondroplasia (dwarfism) is the most common of a large group of conditions known as the osteochondrodysplasias, a heterogenous group of disorders characterized by abnormal growth and remodeling of cartilage and bone.160 Prevalence for achondroplasia

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is 0.36 to 0.6 per 10,000 live births.99 The disorder is an autosomal dominant trait, but 80 percent of cases are the result of a random mutation.160 The typical presentation of achondroplasia is obvious at birth.160 Features include: symmetric shortening of all long bones with proximal portions more affected and lower limb more affected than upper limb; epiphysis is closer to metaphyses resulting in apparent increase in the depth of the articular cartilage space; results in chevron or ball and socket relationship deformity, commonly at lower end of femur; hand bones appear thick and tubular with widely separated second and third digits of the hands and inability to approximate them in extension; pelvic cavity is short and broad; vertebral bodies that are cuboid shaped, which may cause narrowing of the spinal canal and cord compression, with short pedicles and associated dorso-lumbar lordosis; skull base that is narrowed, with narrowing of foramen magnum with relative midface hypoplasia and depressed nasal bones.160 Neurologic impairments and complications are possible with 10% of children showing neurologic signs by 10 years of age.99 The altered body position does affect developmental motor skill sequencing but is consistent within this group and milestone reference tables do exist.99 Positioning should be considered and restricted time in sitting is advised to avoid development of a fixed thoracolumbar kyphosis.99 Counseling to maintain appropriate weight for height is helpful in controlling orthopedic injuries.99

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Leg Length Inequality Leg length inequality (LLI) may also be called leg length discrepancy (LLD) and is often defined as a 2.5 cm or greater difference in leg length. Differences smaller than this tend not to cause clinical problems. Differences in leg length may be due to relative overgrowth or shortening.

Origin The origin of LLI is divided into a number of categories: trauma; congenital, neuromuscular, or acquired disease; infections causing physeal growth arrest; tumors; and vascular disorders. Types of trauma include epiphyseal and diaphyseal injuries. Epiphyseal injuries with growth plate closure may be asymmetrical, as in fracture involving the medial epiphysis of the distal femur. This type of injury can result in an angular deformity (varus), as well as shortening of the femur. Congenital disorders include hemihypertrophy, in which one half of the body (the arm and leg) is larger than the other. Conversely, in hemiatrophy, one half of the body is smaller than the other. These sometimes can be difficult to distinguish, necessitating a decision on which arm and leg best “match” the rest of the body. Proximal focal femoral deficiency, congenital coax vara, fibular and tibial hemimelia, and other focal dysplasias are additional causes of LLI (see Chapter 13). DDH can also cause a leg length discrepancy as the result of an apparent femoral shortening noted when the hip is dislocated or actual shortening caused by femoral head AVN. Surgical interventions for DDH can change the leg length; these include use of a varus derotation osteotomy (VDRO), which shortens the femur, and pelvic osteotomies, which may add up to one inch to the height of the pelvis. Neuromuscular disorders can cause asymmetrical growth of lower extremity bones. Decreased growth in the affected leg may be due to decreased muscle forces in weak or paralyzed muscles. Examples include myelodysplasia, poliomyelitis, and hemiplegia caused by congenital or acquired cerebral palsy. However, not all

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cases of LLI should be corrected. A child with hemiplegia can have a short lower limb on the affected side. With weakness and spasticity in that leg, foot clearance may be difficult as a result of decreased hip and knee flexion and equinus. The shortness of the leg makes foot clearance in swing easier. Acquired conditions such as LCPD and SCFE can also result in shortened lower extremity, usually as a result of AVN of the femoral head, or occasionally as the result of surgical intervention. Fibrous dysplasia and tumors, including benign bone cysts and malignant neoplasms, can change leg length by interfering with growth centers or secondarily as a result of fracture or surgical intervention.

Impairments The effects of LLI vary widely among patients because of the actual amount of difference and how well the patient physically compensates for it, the possibility of progression of the inequality, the patient’s perception of the problem, and the overall picture of muscle strength, motor control, and ROM. If the discrepancy is marked or compensation is limited, poor cosmesis may be evident, and a significant increase in work by the muscles may be required to walk.4 Musculoskeletal adaptations and compensations may result. These secondary impairments include pelvic obliquity, which requires more effort by the abductor muscles of the hip and lumbar paraspinal muscles, placing more strain on the spinal ligament.4 Others have reported the development of scoliosis, low back pain, sciatica, excessive stress on hip of knee joints, and lower extremity dysfunction such as stress fracture, plantar fasciitis, or parapatellar knee pain.83 The development of osteoarthritis with LLI has been shown.4 In children a gait strategy is used that puts more work on the longer limb, which may be associated with the higher number of cases of OA in the longer limbs.4 Compensatory patterns include circumduction of persistent flexion of the longer limb, vaulting over the longer limb, toe-walking on the shorter limb, and a greater vertical displacement of the center of body mass.4 Consequently, musculoskeletal adaptations may be observed that include pelvic tilt, knee flexion, and equinus. These problems

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may be significant but easily accommodated because of the inherent energy and motivation usually present in children. In adulthood, however, factors of increased size and weight, increased energy expenditure to walk, increased sensitivity regarding the poor cosmesis of a lurching gait, and long-term effects of asymmetrical lumbosacral spinal alignment may combine to significantly reduce the ability to walk and even render a person nonambulatory.

Clinical Examination The physical therapy examination for patients with LLI starts with obtaining a complete history, including any previous intervention. The physical examination incorporates the following elements: Measurement of ROM, joint stability, and muscle strength of the trunk, hips, knees, ankles, and feet Sensation of the lower extremities Anthropometric measurements: sitting and standing height, weight, and arm span; girth of thighs and calves; leg lengths Functional activities such as rising from a chair to standing and moving down to the floor and back up Clinical analysis of posture and gait, including observation of the spine and lower extremity alignment and substitution patterns; observations of the patient with and without assistive devices and shoe lift during gait on level ground, ramps, and stairs. These tests will help determine if the LLI is structural due to a measurable difference in a lower extremity segment, functional due to asymmetry in the positioning of one lower extremity relative to the other, or a combination of these.83 Different methods of clinical measurement of leg length are used. One is to level the pelvis in standing, using graduated blocks under the short leg, and then to measure the height of the blocks. This method is pictured in Fig. 14.32. Measurements with a tape measure may also be taken with the child supine on an examining table from the superior iliac spine to the medial joint line and the medial malleolus or from the umbilicus to the medial malleolus (Fig. 14.33). A third method has been described by Smith195 and labeled the thigh-leg technique. The patient is placed supine on an examining table with the hips and knee flexed 90°. Discrepancies

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are measured between the table and the thigh, between the thighs at the knees, and between the soles with the knees even (Fig. 14.34). Caution should be used when correcting LLI of less than 5 mm when only clinical examination methods have been used because of the inaccuracy and lack of reliability of the techniques.20 Radiographic measurement of leg length will provide more accurate measurements of an inequality. Computed tomography scanogram is currently used by many.74,83 The radiation dosage for this procedure is 1% of the exposure with conventional radiography.83 This method is quicker, which better accommodates small children, and also can be used when contractures or external fixators are present.74,83 This compares to the standard x-ray technique in which the patient is positioned on the x-ray table with a ruler alongside the legs, and three radiographs are taken at the level of the hips, knees, and ankles, with the patient held motionless. These three views with the ruler markings next to them allow the examiner to measure the length of the femur and tibia and combine them for the total leg length. Landmarks commonly used are the top of the femoral head, the bottom of the medial femoral condyle, and the tibial plafond. A film of the left wrist and hand may also be performed at the same time for determination of skeletal age of the patient. Measurement error is present in any of these techniques, making both clinical and radiographic leg length determinations an inexact science. Determining the percentage of growth inhibition assists in estimating the eventual discrepancy at skeletal maturity. For example, a 10% inhibition of growth in the short leg may result in minor discrepancy when the child is quite young. When the leg is 20 cm long, a 10 percent shortening is only 2 cm. However, as the child matures, when the unaffected leg is 70 cm long, a 10% inhibition of growth on the involved side will result in a shortening of 7 cm, which is significant.

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FIG. 14.32 Clinical measurement of leg length

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inequality using graduated blocks. (A) Leg length inequality in standing can be viewed with asymmetric iliac crest or posterior iliac spine heights with the patient standing erect. The patient must be standing evenly on the legs, with knees straight and feet flat on the floor. (B) A measurement of inequality can be made by using graduated blocks until the pelvis is level. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

If the patient can be followed with serial measurement over time, scanogram measurement of total length of both the long and the short leg and skeletal age at the time of each scanogram can be plotted on the Moseley graph, which depicts past growth and predicts future growth148 (Fig. 14.35). Timing of epiphysiodesis is based on the predicted LLI at skeletal maturity. The effects of surgery can also be plotted on the graph to predict alteration in leg lengths and the eventual impact on discrepancy at skeletal maturity. Paley et al.159 have developed a mathematical formula that allows these predictions to be accurately based on as few as one or two measurements (Table 14.8).

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FIG. 14.33 Assessment of functional and actual leg

length inequality while supine using a tape measure. Figure A represents one patient and Figures B and C represent a second patient. (A) With the legs in an extended and neutral position, lengths are uneven when measured from the umbilicus to the medial malleolus (left leg longer than right) and from the anterior iliac spine to the medial malleolus in a patient with structural leg length discrepancy. (B) In a patient with fixed pelvic obliquity but no true limb length inequality, asymmetry is noted on the measurement from the umbilicus. In this measurement, the adducted left leg is longer than the right. (C) Measurement from the anterior iliac spine to the medial malleolus demonstrates no structural length inequality. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

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FIG. 14.34 Thigh-leg technique for measurement of leg

length inequality. (A) Patient is positioned supine with the hips and knees flexed to 90°. Discrepancy between the sides is noted between the table and thigh, between the thighs and knees, and between the soles with the knees even. Figure A shows no discrepancy. (B) Discrepancy in leg length is seen with use of graduated blocks to determine amount. (From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia, Saunders, 2014.)

Intervention Intervention for LLI is affected by the patient’s age, current discrepancy, and the projected discrepancy at maturity.74 During growth the family and surgeon may conservatively intervene with shoe lifts or other prosthetic devices. The three final options for intervention after skeletal maturity are: continue the prosthetic or orthotic resources as in the childhood years, shorten the long limb, or lengthen the short limb. The general guideline is: 0–2 cm: No intervention 2–6 cm: Orthotic use, epiphysiodesis, skeletal shortening

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6–20 cm: Limb reconstruction (limb lengthening with or without adjunctive procedures) > 20 cm: Prosthetic fitting (with or without surgical optimization)74 Another consideration is the contribution of growth by each growth center (Table 14.9).

Orthotic Intervention Lifts inside the shoe of the short limb are usually effective for 1.5- to 2-cm correction.74 For larger discrepancies, lifts may be applied to the outside of the shoe.74 Lifts higher than 5 cm are not tolerated well with the weight of the lift being one factor. Also, the weakness of the legs does not counter the inversion stress, and frequent ankle strains may result. More stability can be achieved by an orthotic extension up the posterior calf or above the malleoli.74 A prosthesis is an option for those with a congenital amputation.74 Also, amputation is sometimes chosen in cases where the femur is less than half the length of the contralateral side, if the length is projected to be > 15 to 20 cm and especially if the foot is not functional.74 The decision for amputation is difficult for families but those who undergo surgery and prosthetic early in life show very good results with adaptation to a prosthesis.74 Discussion with families and children who have undergone this intervention may be helpful for families making this decision.74

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FIG. 14.35 Moseley graph used to plot a patient’s

serial scanogram measurements and bone ages to determine the discrepancy at maturity and the possibilities for surgical intervention. Growth of a short leg would be depicted by a line below the normal leg line. The surgical increase in the length of the short leg would allow the two legs to be approximately equal at

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skeletal maturity. (Redrawn from Moseley CE: A straight-line graph for leg-length discrepancies. J Bone Joint Surg Am 59:174-179, 1977.)

TABLE 14.8 Lower Limb Multipliers for Boys and Girls Used to Predict the Limb Length Discrepancy and the Amount of Growth Remaining

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NA, not applicable. From Paley D, Bhave A, Herzenberg JE, et al.: Multiplier method for predicting limblength discrepancy. J Bone Joint Surg Am 82:1432, 2000.

TABLE 14.9 Percentage of Growth for Each Growth Center in the Femur and Tibia

Shortening the long limb Shortening of the longer limb in the growing child can be achieved through epiphysiodesis, the surgical physeal arrest of one or more growth centers in the long leg, which allows the short leg to “catch up” in length. This is a good way to intervene with mild to moderate discrepancy. In order for this to be an option, the child must have enough growth remaining to recoup the differences in length.74 It is especially helpful in cases of overgrowth from fracture, inflammation, or overgrowth syndromes.74 Timing of the epiphysiodesis is obviously crucial. Future growth of each leg must be predicted and the surgery performed at a time when the amount of growth denied the long leg will match the amount of growth still available in the short leg, allowing them to be approximately equal in length at skeletal maturity. If the epiphysiodesis if performed too early, the long leg may actually become the short leg, with an obviously less than optimal surgical result. Epiphysiodesis can also be performed on only the medial or lateral growth part of the growth plate to correct angular deformities. For example, a fracture of the distal femur may cause damage to the medial aspect of the distal femoral growth plate. The lateral part of the growth plate continues to function normally, and

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the leg grows into varus, which also produces a functional shortening. Another option for shortening the long leg is a shortening osteotomy, usually considered in a skeletally mature patient who is not a candidate for epiphysiodesis. A second option for correction of angular deformities is to staple the medial or lateral growth plate; for the limb that is in varus in the growing child, the lateral portion of the growth plate can be stapled to stop growth while the medial side continues to grow.

Lengthening the short limb Surgical lengthening of the short leg has appeal because the surgery is performed on the affected leg, not the “normal” leg, and opportunity exists for correction of discrepancies of much greater magnitude. Criteria for leg lengthening include a discrepancy of greater than 4 to 6 cm, adequate soft tissue mobility available to allow correction, and a stable joint above and below, although unstable joints can be protected with an external frame. The femur and tibia can each be lengthened or both. The final goal is equal leg length with equal knee heights in standing. Corrections up to 15 to 20 cm are now possible with technology.74 Corrections can be very involved and time consuming and this should be well explained to the patient and family. Lengthening often consists of a series of operations to optimize the results with each increasing the length 10 to 20 percent of the original bone length.74 Each lengthening attempt will require at least 1 month of fixator time for every centimeter of length gained followed by an external fixator for 6 months with rehabilitation following.74 Opinions vary as to the best timing for this procedure. Some support delaying limb lengthening until 10 to 12 years so that the patient can comprehend the task ahead while others suggest that lengthening at an earlier age (5 to 7 years) may allow for more normal growth post lengthening and perhaps less ultimate discrepancy.74 Other osseous or joint deformities (e.g., hip dysplasia, ankle valgus) should be addressed prior to initiating this procedure.74 Methods of lengthening include distraction osteogenesis, limb lengthening with external fixation, distraction epiphysiolysis,

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lengthening over intramedullary rod, and intramedullary lengthening device.74 With distraction osteogenesis, an osteotomy is performed and the bone ends are approximated for 3 to 14 days. After this period of time in which the inflammatory phase of fracture healing occurs, the osteotomy then enters the reparative stage of fracture healing and the site is distracted 1 mm per day. Maintaining motion is very important during this procedure, with some recommending discontinuation if a knee extension contracture of > 30° occurs.74 Distraction will be continued until the goal is achieved. The patient is then in the consolidation phase and full weight bearing is allowed. The device remains on the leg until radiographs determine the strength of the bone is adequate for weight bearing.74 An external fixator can also be used for limb lengthening. There are several types of external fixators and techniques. One of note is the Ilizarov technique. An osteotomy is performed as described above. In this procedure, fixation is achieved by tensioned throughand-through wires attached to complete or partial rings that are attached to the limb by multiple bone pins.74 The lengthening is performed through turning the device at a rate of 1 mm per day. Distraction epiphysiolysis is designed to correct growth at the physis. A distraction force is applied across the physis until it fractures. Lengthening is then achieved through gradual distraction. This method is more painful, and complications of further damage to the physis are possible. It is generally used for children who are very near the end of growth.74 Lengthening over an intramedullary rod has the advantage of removal of the external fixator earlier and quicker recovery of knee motion.74 The rod maintains alignment during the distraction and the consolidation phases. With the rod providing stability, the external fixator can be removed after lengthening is complete. Because the femur remains stabilized, progressive weight bearing and restoration of motion can begin.74 The risks are damage to the femoral physis and AVN as well as the knee having a more medial placement relative to the femur during the process due to the lengthening being performed along the anatomic axis of the femur.74 Changes in knee positioning could affect distribution of weight. Infection is also a concern.74

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Intramedullary nailing allows lengthening and stabilization without the risks of an external fixator.74 These are not as widely used for children because of risk of damage to the growth plates.74 This may be the best option in those who have already experienced damage.74 The list of complications for limb lengthening include hypertension during lengthening, device malfunction, pin failure, pin tract infection, osteomyelitis, premature consolidation, poor bone formation, fracture after device removal, decreased growth of the limb, malalignment during lengthening, pain, soft tissue scarring, muscle tightness leading to joint stiffness contracture, dislocation, stretch paralysis of the nerves, and joint damage.74 Children undergoing leg lengthening as well as the family may need guidance because of the pain that may be experienced as well as the length of the process. The child may experience frustration, anger, and fear because of the temporary loss of independence inherent in the procedure. Difficult behavior may require intervention by a psychologist to assist the child and family in developing appropriate coping strategies. Candidates for surgical lengthening must be extremely motivated, with a supportive and committed family. Successful limb lengthening also mandates a comprehensive medical care system, with knowledgeable, experienced physicians, nurses, and therapists to guide the patient and family through the process. Physical therapy may be helpful preoperatively to perform crutch-fitting and instruction in restricted weight bearing on the involved leg, instruction in home exercises, and postoperative positioning and splinting in conjunction with the patient, parents, and other caregivers, and stretching and strengthening exercises to use in preparation for surgery. Much of this may be possible through a home exercise program. Postoperatively, therapy may include instruction in functional activities, active assistive and isometric exercise, proper positioning of the extremity, gait training with progressive weight bearing as tolerated, and pin care. Modalities such as ice or transcutaneous electrical nerve stimulation (TENS) may be useful for pain management. Dynamic splinting may be used in the limb-lengthening stage to provide low-intensity, prolonged stretch to joints with significantly limited ROM. Exercise

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techniques that may be useful throughout the Ilizarov lengthening include closed- and open-chain exercises for strengthening and active-assistive or passive exercises for ROM. A stationary bicycle and a treadmill may be used. After removal of the fixator, the patient may require additional gait training, monitoring, and adjusting of the exercise program and possible refitting and retraining, with orthotic or prosthetic devices worn preoperatively. Throughout the course of intervention, children are encouraged to participate in their usual school and leisure activities to the fullest extent possible.

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Summary The pediatric orthopedic conditions presented in this chapter represent a wide range of problems that may be encountered by physical therapists in children referred to them for a specific problem (e.g., clumsy gait) or perhaps a specific complaint that turns out to be a “red herring.” An example of this is a child referred to physical therapy for intervention for knee pain who in fact has a slipped capital femoral epiphysis. Alternatively, a child might be referred from a primary care physician or a neurologist to a physical therapist with one diagnosis (e.g., gross motor developmental delay) but also may be receiving intervention by an orthopedist for developmental dysplasia of the hip. In all these various scenarios, it is essential that the physical therapist be knowledgeable about various pediatric orthopedic conditions, including their signs, symptoms, differential diagnoses, and intervention. Physical therapists must be well informed regarding when to refer to other practitioners, such as the orthopedic surgeon in the case of a child with a suspected acute SCFE. As physical therapists, we often have the advantage of following a child intensively over a period of time, as opposed to a physician’s visit once every 6 months, and thereby have unique insights into the child’s condition and the family dynamics surrounding it. The wellinformed physical therapist can often serve to bridge the gap that sometimes occurs between various specialists following a child, including primary care physicians, orthopedists, neurologists, and physiatrists.

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Recommended Measures for Children receiving Orthopedic Evaluation Body Functions and Structures Torsional profile of lower extremity Hip-knee-ankle joint ROM Ortolani test Barlow test Leg length Strength Pain Foot progression angle Normal progression of physical changes with growth and development (e.g., flatfoot, genu valgum, torsion of lower extremity)

Activities and Participation Gait assessment Physical participation in play Self-chosen position in play

Case Scenarios on Expert Consult The case scenarios related to this chapter address a patient with Sever disease and a patient with a vascular malformation of the lower extremity. The case with Sever disease focuses on the evaluation and treatment process, and the case with the vascular malformation focuses on the process involved with differential diagnosis of this disorder.

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References 1. Abolarin T, Aiyegbusi A, Tella A, et al. Predictive factors for flatfoot: the role of age and footwear in children in urban and rural communities in South West Nigeria. Foot (Edinburgh). 2011;21:188. 2. Accadbled F, Laville J.M, Harper L. One-step treatment of evolved Blount’s disease: four cases and review of the literature. J Pediatr Orthop. 2003;23:747. 3. Acikgoz G, Averill L.W. Chronic recurrent multifocal osteomyleitis: typical patterns of bone involvement in whole-body bone scintigraphy. Nucl Med Commun. 2014;35:797. 4. Aiona M, Do K.P, Emara K, et al. Gait patterns in children with limb length discrepancy. J Pediatr Orthop. Jul 29, 2014. 5. Akdag B, Cavlak U, Cimbiz A, et al. Determination of pain intensity risk factors among school children with nonspecific low back pain. Med Sci Monit. 2011;17:PH12. 6. Alsaleem M, Set K.K, Saadeh L. Developmental dysplasia of hip: a review. Clin Pediatr. Nov 6, 2014. 7. Alshammari A, Usmani S, Elgazzar A.H, et al. Chronic recurrent multifocal osteomyelitis in children: a multidisciplinary approach is needed to establish a diagnosis. World J Nucl Med. 2013;12:120. 8. Anderson L.A, Gililland J, Pelt C, et al. Subcapital correction osteotomy for malunited slipped capital femoral epiphysis. J Pediatr Orthop. 2013;33:345. 9. Aparicio G, Abril J.C, Calvo E, et al. Radiologic study of patellar height in Osgood-Schlatter disease. J Pediatr Orthop. 1997;17:63. 10. Arkun R. Parasitic and fungal disease of bones and joints. Semin Musculoskelet Radiol. 2004;8:231. 11. Asche S.S, van Rijn R.M, Bessems J.H.J.M, et al. What is the clinical course of transient synovitis in children: a systematic review of the literature. Chiropr Man Ther. 2013;21:39. 12. Atanda A, Shah S.A, O’Brien K. Osteochondrosis: common

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causes of pain in growing bones. Am Fam Physician. 2011;83:285. 13. Barnes J.M. Premature epiphysial closure in Perthes’ disease. J Bone Joint Surg, Br. 1980;62:432. 14. Bergerault F, Fournier J, Bonnard C. Orthop Traumatol Surg Res. 2012:99S–S150. 15. Berkowitz C.D. Angular deformities of the lower extremity: bowlets and knock-knees. In: Berkowitz C.D, ed. Berkowitz’s pediatrics: a primary care approach. ed 3. Elk Grove Village, IL: American Academy of Pediatrics; 2008. 16. Birch J.G. Review article: Blount disease. J Am Acad Orthop Surg. 2013;21:408. 17. Blackmur J.P, Murray A.W. Do children who in-toe need to be referred to an orthopaedic clinic? J Pediatr Orthop B. 2010;19:415. 18. Bleck E.E. Metatarsus adductus: classification and relationship to outcomes of treatment. J Pediatr Orthop. 1983;3:2. 19. Borges J.L, Guille J.T, Bowen J. Kohler’s bone disease of the tarsal navicular. J Pediatr Orthop. 1995;15:596. 20. Brady R.J, Dean J.B, Skinner T.M, et al. Limb length inequality: clinical implications for assessment and intervention. J Orthop Sports Phys Ther. 2003;33:221. 21. Bramer J.A, Maas M, Dallinga R.J, et al. Increased external tibial torsion and osteochondritis dessicans of the knee. Clin Orthop Rel Res. 2004;422:175. 22. Breugem C.C, Maas M, Breugem S.J.M, et al. Vascular malformations of the lower limb with osseous involvement. J Bone Joint Surg. 2003;85:399. 23. Brown D. Seasonal variation of slipped capital femoral epiphysis in the United States. J Pediatr Orthop. 2004;24:139. 24. Carey J.L, Grimm N.L. Treatment algorithm for osteochondritis dissecans of the knee. Orthop Clin N Am. 2015;46:141. 25. Carney B.T, Minter C.L. Nonsurgical treatment to regain hip abduction motion in Perthes disease: a retrospective review. South Med J. 2004;97:485. 26. Cass A.D, Camasta C.A. A review of tarsal coalition and pes

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planovalgus: clinical examination, diagnostic imaging, and surgical planning. J Foot Ankle Surg. 2010;49:274. 27. Cassas K.J, Cassettari-Wayhs A. Childhood and adolescent sports-related overuse injuries. Am Fam Phys. 2006;73:1014. 28. Cepero S, Ullot R, Sastre S. Osteochondritis of the femoral condyles in children and adolescents: our experience over the last 28 years. J Pediatr Orthop B. 2005;14:24. 29. Chaudhry S, Phillips D, Feldman D. Legg-Calve-Perthes disease: an overview with recent literature. Bull Hosp Joint Dis. 2014;72:18. 30. Chen K.C, Yeh C.J, Tung L.C, et al. Relevant factors influencing flatfoot in preschool-aged children. Eur J Pediatr. 2011;170:931. 31. Chloe H, Inaba Y, Kobayashi N, et al. Use of real-time polymerase chain reaction for the diagnosis of infection and differentiation between gram-positive and gram-negative septic arthritis in children. J Pediatr Orthop. 2013;33:e28. 32. Cho K.H, Lee S.M, Lee Y.H, et al. Ultrasound diagnosis of either an occult or missed fracture of an extremity in pediatric-aged children. Korean J Radiol. 2010;11:84. 33. Chung S.M, Batterman S.C, Brighton C.T. Shear strength of the human femoral capital epiphyseal plate. J Bone Joint Surg Am. 1976;58:94. 34. Cibulka M.T. Determination and significance of femoral neck anteversion. Phys Ther. 2004;84:550. 35. Clark C, Ogden J. Development of the menisci of the human joint: morphologic changes and their potential role in childhood meniscal injury. J Bone Joint Surg Am. 1983;65:538. 36. Clarke N.M.P. Swaddling and hip dysplasia: an orthopaedic perspective. Arch Dis Child. 2014;99:5. 37. Committee on Quality Improvement. Subcommittee on Developmental Dysplasia of the hip: clinical practice guideline: early detection of developmental dysplasia of the hip. Pediatrics. 2000;105:896. 38. Connors J.F, Wernick E, Lowy L.I, et al. Guidelines for evaluation and management of five common podopediatric conditions. J Am Podiatr Med Assoc. 1998;88:206. 39. Cooper A.P, Doddabasappa S.N, Mulpuri K. Evidence-based

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management of developmental dysplasia of the hip. Orthop Clin North Am. 2014;45:341. 40. Cosma D, Paraian I, Vasilescu D. Results of the conservative treatment in clubfoot using the French method. J Pediatr Surg Spec. 2014;8:1. 41. Cuevas de Alba C, Buille J.T, Bowen J.R. Computed tomography for femoral and tibial torsion in children with clubfoot. Clin Orthop Rel Res. 1998;353:203. 42. Cusick B.D, Stuberg W.A. Assessment of lower-extremity alignment in the transverse plane: implications for management of children with neuromotor dysfunction. Phys Ther. 1992;72:3. 43. Dare D.M, Dodwell E.R. Pediatric flatfoot: cause, epidemiology, assessment, and treatment. Curr Opin Pediatr. 2014;26:93. 44. Davids J.R, Davis R.B, Jameson C, et al. Surgical management of persistent intoeing gait due to increased internal tibial torsion in children. J Pediatr Orthop. 2014;34:467. 45. De Boeck H. Osteomyelitis and septic arthritis in children. Acta Orthop Belg. 2005;71:505. 46. Dietz F.R. Intoeing—fact, fiction and opinion. Am Fam Physician. 1994;5:1249. 47. Dowling A.M, Steele J.R, Barr L.A. Does obesity influence foot structure and plantar pressure patterns in prepubescent children? Int J Obes Relat Metab Disord. 2001;25:845. 48. Dror L, Alan A, Leonel C. The Haas procedure for the treatment of tibial torsional deformities. J Pedatric Orthop B. 2007;16:120. 49. Eberhardt O, Fernandez F.F, Wirth T. The talar axis-first metatarsal base angle in CVT treatment: a comparison of idiopathic and non-idiopathic cases treated with the Dobbs method. J Child Orthop. 2012;6:491. 50. Ehrenborg G, Engfeldt B. Histologic changes in the OsgoodSchlatter lesion. Acta Chir Scand. 1961;121:328. 51. Eilert R.E. Orthopedics. In: Hay Jr. W.W, Levin M.J, Sondheimer J.M, et

1110

al., eds. Current pediatric diagnosis and treatment. ed 17. Chicago: Lange Medical Books/McGraw-Hill; 2005. 52. Engel G.M, Staheli T. The natural history of torsion and other factors influencing gait in childhood. Clin Orthop Rel Res. 1974;99:12. 53. Engstom P, Tedroff K. The prevalence and course of idiopathic toe-walking in 5-year-old children. Pediatrics. 2012;130:279. 54. Erol B, Dormans J.P. Hip disorders. In: Dormans J.P, ed. Pediatric orthopaedics: core knowledge in orthopaedics. ed 1. Philadelphia: Mosby; 2005. 55. Evans A.M. Growing pains: contemporary knowledge and recommended practice. J Foot Ankle Res. 2008;1:4. 56. Evans A.M, Scutter S.D. Prevalence of “growing pains” in young children. J Pediatr. 2004;145:255. 57. Farr S, Dranzl A, Pablik E, et al. Functional and radiographic consideration of lower limb malalignment in children and adolescents with idiopathic genu valgum. J Orthop Res. 2014;32:1362. 58. Farsetti P, Dragoni M, Ippolito E. Tibiofibular torsion in congenital clubfoot. J Pediatr Orthop B. 2012;21:47. 59. Faughan D.M, Mofeson L.M, Hughes M.D, et al. AIDS Clinical Trials Group Protocol 219 Team. Osteonecrosis of the hip (Legg-Calve-Perthes disease) in human immunodeficiency virus-infected children. Pediatrics. 2002;109:E74. 60. Fishkin Z, Armstrong D.G, Shah H, Patra A, et al. Proximal femoral physis shear in slipped capital femoral epiphysis— a finite element study. J Pediatr Orthop. 2006;26:291. 61. Flouzat-Lachaniette C.H, Pujol N, Boisrenoult P, et al. Discoid medial meniscus: report of four cases and literature review. Orthop Traumatol Surg Res. 2011;97:826. 62. Fuchs R, Staheli L.T. Sprinting and intoeing. J Pediatr Orthop. 1996;16:489. 63. Galbraith R.T, Gelberman R.H, Hajek P.C, et al. Obesity and decreased femoral anteversion in adolescence. J Orthop Res. 1987;5:523. 64. Gerber J.S, Doffin S.E, Smathers S.A, et al. Trends in the

1111

incidence of methicillin-resistant Staphylococcus aureus infection in children’s hospitals in the United States. Clin Infect Dis. 2009;49:65. 65. Goergens E.D, McEvoy A, Watson M, et al. Acute osteomyelitis and septic arthritis in children. J Paediatr Child Health. 2005;41:59. 66. Gibbons P.J, Gray K. Update on clubfoot. J Paediatr Child Health. 2013;49:E434. 67. Gigante A, Bevilacqua C, Bonetti M.B, et al. Increased external tibial torsion in Osgood Schlatter disease. Acta Orthop Scand. 2003;74:431. 68. Giladi M, Milgrom C, Stein M, et al. External rotation of the hip. A predictor of risk for stress fractures. Clin Orthop Rel Res. 1987;216:131. 69. Gold R. Diagnosis of osteomyelitis. Pediatr Rev. 1991;12:292. 70. Gordon J.E, Pappademos P.C, Schoenecker P.L, et al. Diaphyseal derotational osteotomy with intramedullary fixation for correction of excessive femoral anteversion in children. J Pediatr Orthop. 2005;25:548. 71. Gore A.I, Spencer J.P. The newborn foot. Am Fam Phys. 2004;69:865. 72. Graf A, Wu K.W, Smith P.A, et al. Comprehensive review of the functional outcome evaluation of clubfoot treatment: a preferred methodology. J Pediatr Orthop B. 2012;21:20. 73. Gulan G, Matoviniovic D, Nemee B, et al. Femoral neck anteversion: values, development, measurement, common problems. Coll Antropol. 2000;24:521. 74. Halanski M.A, Noonan K.J. Limb-length discrepancy. In: Weinstein S.L, Flynn J.M, eds. ed 7. Lovell and Winter’s pediatric orthopaedics. vol. 2. Philadelphia: Lippincott Williams & Wilkins; 2013. 75. Hanada M, Koyama H, Takahashi M, et al. Relationship between the clinical findings and radiographic severity in Osgood-Schlatter disease. Open Access J Sports Med. 2012;3:17. 76. Harik N.S, Smeltzer M.S. Management of acute hematogenous osteomyelitis in children. Expert Rev Anti Infect Ther. 2010;8:175.

1112

77. Harris E. The intoeing child: etiology, prognosis, and current treatment options. Clin Podiatr Med Surg. 2013;30:531. 78. Hart E.S, Kalra K.P, Grottkau B.E, et al. Discoid lateral meniscus in children. Orthop Nurs. 2008;27:174. 79. Hawkshead III. J.J, Patel N.B, Steele R.W, et al. Comparative severity of pediatric osteomyelitis attributable to methicillin-resistant versus methicillinsensitive. Staphylococcus aureus, J Pediatr Orthop. 2009;29:85. 80. Hazlewood M.E, Simmons A.N, Johnson W.T, et al. The footprint method to assess transmalleolar axis. Gait Posture. 2007;25:597. 81. Herring J.A. Developmental dysplasia of the hip. In: Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Elsevier Saunders: Philadelphia; 2008. 82. Herring J.A. Legg-Calve-Perthes disease. In: Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Philadelphia: Elsevier Saunders; 2008. 83. Herring J.A. Limb length discrepancy. In: Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Philadelphia: Elsevier Saunders; 2008. 84. Herring J.A. Slipped capital femoral epiphysis. In: Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Philadelphia: Elsevier Saunders; 2008. 85. Herring J.A, Birch J.G. The limping child. In: Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Elsevier Saunders: Philadelphia; 2008. 86. Herring J.A, Kim H.T, Browne R. Part I: classification of radiographs with use of the modified lateral pillar and Stulberg classifications. J Bone Joint Surg Am. 2004;86:2103. 87. Hixon A.L, Gibbs L.M. Osteochondritis dissecans: a diagnosis not to miss. Am Fam Phys. 2000;61:151. 88. Hofmann A, Jones R.E, Herring J.A. Blount’s disease after skeletal maturity. J Bone Joint Surg Am. 1982;64:1004. 89. Holden W, David J. Chronic recurrent multifocal osteomyelitis: two cases of sacral disease responsive to corticosteroids. Clin Infect Dis. 2005;40:616. 90. Holen K.J, Tengagnder A, Bredland T, et al. Universal or selective screening of the neonatal hip using ultrasound? A

1113

prospective, randomised trial of 15,529 newborn infants. J Bone Joint Surg Br. 2002;84:886. 91. Howard A.W, Viskontas D, Sabbagh C. Reduction in osteomyelitis and septic arthritis related to H. influenzae type B vaccination. J Pediatr Orthop. 1999;19:705. 92. Howlett J.P, Mosca B.S, Bjornson K. The association between idiopathic clubfoot and increased internal hip rotation. Clin Orthop Rel Res. 2009;467:1231. 93. Huber A.M, Lam P.Y, Duffy C.M, et al. Chronic recurrent multifocal osteomyelitis: clincial outcomes after more than five years of follow-up. J Pediatr. 2002;141:198. 94. Hunter New England NSW Health. Screening, assessment and management of developmental dysplasia of the hip (DDH), Clinical Guidelines for Hunter New England NSW Health. HNEH CG 10_10. 2010. 95. Hutchinson B. Pediatric metatarsus adductus and skewfoot deformity. Clin Podiatr Med Surg. 2010;27:93. 96. Ikeda H, Yamauchi Y, Saluraba K, et al. Etiologic factor of Osgood-Schlatter disease in young sports players. In: Proceedings of the 20th Congress of the SICOT Amsterdam. 1996 The Netherlands. 97. Inan M, Chan G, Bowen J.R. Correction of angular deformities of the knee by percutaneous hemiepiphysiodesis. Clin Orthop Rel Res. 2007;456:164. 98. Ippolito E, Panseti I.V. Congenital clubfoot in the human fetus: a histological study. J Bone Joint Surg Am. 1980;62:8. 99. Ireland P.J, Pacey V, Zankl A, et al. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117. 100. Jacobsen S.T, Crawford A.H. Congenital vertical talus. J Pediatr Orthop. 1983;3:306. 101. Jacquemier M, Glard Y, Pomero V, et al. Rotational profile of the lower limb in 1319 healthy children. Gait Posture. 2008;28:187. 102. Jakob R.P, von Gumppenberg S, Englehardt P. Does Osgood-Schlatter disease influence the position of the patella? J Bone Joint Surg Br. 1981;63:579. 103. James A.M, Williams C.M, Haines T.P. Heel raises versus

1114

prefabricated orthoses in the treatment of posterior heel pain associated with calcaneal apophysitis (Sever’s Disease): study protocol for a randomized controlled trial. J Foot Ankle Res. 2010;3:3. 104. James A.M, Williams C.M, Haines T.P. Effectiveness of interventions in reducing pain and maintaining physical activity in children and adolescents with calcaneal apophysitis (Sever’s disease): a systematic review. J Foot Ankle Res. 2013;6:16. 105. Jeffries L.J, Milanese S.F, GrimmerSomers K.A. Epidemiology of adolescent spinal pain: a systematic overview of the research literature. Spine (Phila Pa 1976). 2007;32:2630. 106. Joseph B, Varghese G, Mulpuri K, et al. Natural evolution of Perthes disease: a study of 610 children under 12 years of age at disease onset. J Pediatr Orthop. 2003;23:590. 107. Judd J, Clarke N.M.P. Treatment and prevention of hip dysplasia in infants and young children. Early Hum Dev. 2014;90:731. 108. Kandzierski G, Karski T, Kozlowske K. Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease. J Pediatr Orthop B. 2003;12:380. 109. Kao H.C, Huang Y.C, Chiu C.H, et al. Acute hematogenous osteomyelitis and septic arthritis in children. J Microbiol Immunol Infect. 2003;36:260. 110. Karol L.A. Rotational deformities in the lower extremities. Curr Opin Pediatr. 1997;9:77. 111. Kaspiris A, Zafiropoulou C. Growing pains in children: epidemiological analysis in a Mediterranean population. Joint Bone Spine. 2009;76:486. 112. Kay R.M, Kim Y.J. Slipped capital femoral epiphysis. In: Weinstein S.L, Flynn J.M, eds. ed 7. Lovell and Winter’s Pediatric orthopaedics. vol. 2. Philadelphia: Lippincott Williams & Wilkins; 2013. 113. Kim H.D, Lee D.S, Eom M.J, et al. Relationship between physical examinations and two-dimensional computed tomographic findings in children with intoeing gait. Ann Rehabil Med. 2011;35:491.

1115

114. Kim H.K. Legg-Calve-Perthes disease. J Am Acad Orthop Surg. 2010;18:676. 115. Kitakoji T, Kitoh H, Katoh M, et al. Home traction in the treatment schedule of overhead traction for developmental dysplasia of the hip. J Orthop Sci. 2005;10:475. 116. Kocher M.S, Mandiga R, Aurakowski D, et al. Validation of a clinical prediction rule for the differentiation between septic arthritis and transient synovitis of the hip in children. J Bone Joint Surg Am. 2004;86:1629. 117. Kocher M.S, Zurakowski D, Kasser J.R. Differentiating between septic arthritis and transient synovitis of the hip in children: an evidence-based clinical prediction algorithm. J Bone Joint Surg Am. 1999;81:1662. 118. Koenig J.K, Pring M.E, Dwek J.R. MR evaluation of femoral neck version and tibial torsion. Pediatr Radiol. 2012;42:113. 119. Kosahvili Y, Fridman T, Backstein D, et al. The correlation between pes planus and anterior knee pain or intermittent low back pain. Foot Ankle Int. 2008;29:910. 120. Krul M, van der Wouden J.C, Schellevis F.G, et al. Acute non-traumatic hip pathology in children: incidence and presentation in family practice. Fam Pract. 2010;27:166. 121. Kruse L.M, Dobbs M.B, Gurnett C.A. Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect. J Bone Joint Surg Am. 2008;90:2688. 122. Kutlu A, Ayata C, Ogun T.C, et al. Preliminary traction as a single determinant of avascular necrosis in developmental dislocation of the hip. J Pediatr Orthop. 2000;20:579. 123. Landin L.A, Danielsson L.G, Wattsgard C. Transient synovitis of the hip. J Bone Joint Surg Br. 1987;69:238. 124. Legiehn G.M, Heran M.K.S. A step-by-step practical approach to imaging diagnosis and interventional radiologic therapy in vascular malformations. Semin Intervent Radiol. 2010;27:209. 125. Lehmann C.L, Arons R.R, Loder R.T, et al. The epidemiology of slipped capital femoral epiphysis: an update. J Pediatr Orthop. 2006;26:286. 126. Lehmann H.P, Hinton R, Morello P, et al. Developmental dysplasia of the hip practice guideline: technical report,

1116

Committee on Quality Improvement and Subcommittee on Developmental Dysplasia of the Hip. Pediatrics. 2000;105:E57. 127. Leonard Z, Fortin P.T. Adolescent accessory navicular. Foot Ankle Clin North Am. 2010;15:337. 128. Loder R.T, Starnes T, Dikos G, et al. Demographic predictors of severity of stable slipped capital femoral epiphyses. J Bone Joint Surg Am. 2006;88:97. 129. Lloyd-Roberts G.C, Catterall A, Salamon P.B. A controlled study of the indications for and the results of femoral osteotomy in Perthes’disease. J Bone Joint Surg Br. 1976;13:598. 130. Loren G.J, Karpinski N.C, Mubarak S.J. Clinical implications of clubfoot histopathology. J Pediatr Orthop. 1998;18:765. 131. Luhmann S.J, Bassett G.S, Gordon J.E, et al. Reduction of a dislocation of the hip due to developmental dysplasia: implications for the need of future surgery. J Bone Joint Surg Am. 2003;85:239. 132. McCarron J.A, Johnston D.R, Hanna B.G, et al. Evaluation and treatment of musculoskeletal vascular anomalies in children: an update and summary for orthopaedic surgeons. Univ Penn Orthop J. 2001;14:15. 133. McCarthy J.J, Dormans J.P, Kozin S.H, et al. Musculoskeletal infections in children: basic treatment principles and recent advancements. J Bone Joint Surg Am. 2004;86:850. 134. Mahan S.T, Katz J.N, Kim Y.J. To screen or not to screen? A decision analysis of the utility of screening for developmental dysplasia of the hip. J Bone Joint Surg Am. 2009;91:1705. 135. Maier C, Zingg P, Seifert B, et al. Femoral torsion: reliability and validity of the trochanteric prominence angle test. Hip Int. 2012;22:534. 136. Manoff E.M, Banffy M.B, Winell J.J. Relationship between body mass index and slipped capital femoral epiphysis. J Pediatr Orthop. 2005;25:744. 137. Manson D, Wilmot D.M, King S, et al. Physeal involvement in chronic recurrent multifocal osteomyelitis. Pediatr

1117

Radiol. 1989;20:76. 138. Maraqa N.E, Gomez M.M, Rathore M.H. Outpatient parenteral antimicrobial therapy in osteoarticular infections in children. J Pediatr Orthop. 2002;22:506. 139. Mazloumi S.M, Ebrahimzadeh M.H, Kachooei A.R. Evolution in diagnosis and treatment of Legg-Calve-Perthes disease. Arch Bone Joint Surg. 2014;2:86. 140. Michelson J.D, Durant D.M, McFarland E. The injury risk associated with pes planus in athletes. Foot Ankle Int. 2002;23:629. 141. Miettunun P.M.H, Wei X, Kaura D, et al. Dramatic pain relief and resolution of bone inflammation following pamidronate in 9 pediatric patients with persistent chronic recurrent multifocal osteomyelitis (CRMO). Pediatr Rheumatol. 2009;7:2. 142. Mirkopulos N, Weiner D.S, Askew M. The evolving slope of the proximal femoral growth plate relationship to slipped capital femoral epiphysis. J Pediatr Orthop. 1988;8:268. 143. Mohanta M.P. Growing pains: practitioners’ dilemma. Indian Pediatr. 2014;51:379. 144. Montgomery N.I, Rosenfeld S. Pediatric osteoarticular infection update. J Pediatr Orthop. 2014;00:00. 145. Morley A.J. Knock-knee in children. Br Med J. 1957;2:976. 146. Occult fracture. Mosby’s Medical Dictionary. 8th ed. Available at: http://medicaldictionary.thefreedictionary.com/occult+fracture. 147. Mosca V.S. Flexible flatfoot in children and adolescents. J Child Orthop. 2010;4:107. 148. Moseley C.E. A straight-line graph for leg-length discrepancies. J Bone Joint Surg Am. 1977;59:174. 149. Murray A.W, Wilson N.I. Changing incidence of slipped capital femoral epiphysis: a relationship with obesity? J Bone Joint Surg Br. 2008;90:92. 150. Nakumura J, Kamegaya M, Saisu T, et al. Treatment for developmental dysplasia of the hip using the Pavlik harness: long-term results. J Bone Joint Surg Br. 2007;89:230. 151. Najaf-Zadeh A, Nectoux E, Dubos F, et al. Prevalence and

1118

clinical significance of occult fractures in children with radiograph-negative acute ankle injury: a metaanalysis. Acta Orthop. 2014;85:518. 152. Nelson J.D. Toward simple but safe management of osteomyleitis. Pediatrics. 1997;99:883. 153. Nemeth B. The diagnosis and management of common childhood orthopedic disorders. Cur Probl Pediatr Adolesc Health Care. 2011;41:2. 154. Novais E.N, Millis M.B. Slipped capital femoral epiphysis: prevalence, pathogenesis, and natural history. Clin Orthop Relat Res. 2012;470:3432. 155. Obedian R.S, Grelsamer R.P. Osteochondritis dissecans of the distal femur and patella. Clin Sports Med. 1997;16:157. 156. Offiah A.C. Acute osteomyelitis, septic arthritic and discitis: differences between neonates and older children. Eur J Radiol. 2006;60:221. 157. Ozlem E.I, Akcali O, Losay C, et al. Flexible flatfoot and related factors in primary school children: a report of a screening study. Rheumatol Int. 2006;26:1050. 158. Paakkonen M, Peltola H. Bone and joint infections. Pediatr Clin North Am. 2013;60:425. 159. Paley D, Bhave A, Herzenberg J.E, et al. Multiplier method for predicting limb-length discrepancy. J Bone Joint Surg Am. 2000;82:1432. 160. Panda A, Gamanagatti S, Jana M, et al. Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 2014;6:808. 161. Parent A.S, Teilman G, Juul A, Skakkebaek L.E, et al. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev. 2003;24:668. 162. Park K.W, Jang K.S, Song H.R. Can residual leg shortening be predicted in patients with Legg-Calve-Perthes’ disease? Clin Orthop Rel Res. 2013;471:2570. 163. Pauk J, Ezerskiy V, Raso J.V, et al. Epidemiologic factors affecting plantar arch development in children with flat feet. J Am Podiatr Med Assoc. 2012;102:114. 164. Pavlik A. Stirrups as an aid in the treatment of congenital

1119

dysplasias of the hip in children. LeKarskeListy. 1950;5:81 (Translated by Bialik V, Reis ND: J Pediatr Orthop 9:157, 1989). 165. Pavlik A. The functional method of treatment using a harness with stirrups as the primary method of conservative therapy for infants with congenital dislocation of the hip. Zeitschrift fur Orthopadie und Ihre Grenzgeneit. 1957;89:341 (Translated by Peltier LF: Clin Orthop Rel Res 281:4, 1992). 166. Pfeiffer M, Kotz R, Ledi T, et al. Prevalence of flat foot in preschool-aged children. Pediatrics. 2006;118:634. 167. Piddo C, Reed M.H, Black G.B. Premature epiphyseal fusion and degenerative arthritis in chronic recurrent multifocal osteomyelitis. Skel Radiol. 2000;29:94. 168. Pitkow R.B. External rotation contracture of the extended hip. Clin Orthop Rel Res. 1975;110:139. 169. Pugmire B.S, Shailam R, Gee M.S. Role of MRI in the diagnosis and treatment of osteomyelitis in pediatric patients. World J Radiol. 2014;6:530. 170. Raimann A, Baar A, Raimann R, et al. Late developmental dislocation of the hip after initial normal evaluation: a report of five cases. J Pediatr Orthop. 2007;27:32. 171. Rampal V, Chamond C, Barthes X, et al. Long-term results of treatment of congenital idiopathic clubfoot in outcome of the functional “French” method if necessary completed by soft-tissue release. J Pediatr Orthop. 2013;33:48. 172. Rao U.B, Joseph B. The influence of footwear on the prevalence of flat foot. A survey of 2300 children. J Bone Joint Surg Br. 1992;74:525. 173. Redjal H.R, Zamorano D.P. Developmental hip dysplasia. In: Berkowitz C.D, ed. Berkowitz’s pediatrics: a primary care approach. ed 3. Elk Grove Village, IL: American Academy of Pediatrics; 2008. 174. Redjal H.R, Zamorano D.P. Rotational problems of the lower extremity: in-toeing and outtoeing. In: Berkowitz C.D, ed. Berkowitz’s pediatrics: a primary care approach. ed 3. Elk Grove Village, IL: American Academy of Pediatrics; 2008.

1120

175. Reikeras O, Kristiansen L.P, Gunderson R, et al. Reduced tibial torsion in congenital clubfoot. Acta Orthop Scand. 2001;72:53. 176. Richards B.S, Katz D.F, Sims J.B. Effectiveness of brace treatment in early infantile Blount’s disease. J Pediatr Orthop. 1998;18:374. 177. Riise O.R, Kirkhus E, Handeland K.S, et al. Childhood osteomyelitis-incidence and differentiation from other acute onset musculoskeletal features in a population-based study. BMC Pediatr. 2008;8:45. 178. Robertson W, Kelly B.T, Green D.W. Osteochondritis dissecans of the knee in children. Curr Opin Pediatr. 2003;15:38. 179. Rosskopf A.B, Ramseier L.E, Sutter R, et al. Femoral and tibial torsion measurement in children and adolescents: comparison of 3D models based on low-dose biplanar radiography and low-dose CT. Am J Roentgenol. 2014;202:W285. 180. Ruwe P.A, Agae J.R, Ozhonoff M.B, et al. Clinical determination of femoral anteversion. A comparison with established techniques. J Bone Joint Surg Am. 1992;74:820. 181. Sabharwal S. Current concepts review: Blount disease. J Bone Joint Surg. 2009;91:1758. 182. Sabharwal S, Zhao C. The hip-knee-ankle angle in children: reference values based on a full-length standing radiograph. J Bone Joint Surg Am. 2009;91:2461. 183. Salenius P, Vankka E. The development of the tibiofemoral angle in children. J Bone Joint Surg Am. 1975;57:259. 184. Sang G.S, Song H.R, Kim H.W, et al. Comparison of orthopaedic manifestations of multiple epiphyseal dysplasias caused by MATN3 versus COMP mutations: a case controls study. BMC Musculoskel Disord. 2014;15:84. 185. Sarkisson E.J, Sankar W.N, Zhu L, et al. Radiographic follow-up of DDH in infants: are x-rays necessary after a normalized ultrasound? J Pediatr Orthop. 2014;35(6):551–555. 186. Sass P, Hassan G. Lower extremity abnormalities in children. Am Fam Phys. 2003;68:461. 187. Sen R.K, Sharma L.R, Thakur S.R, et al. Patellar angle in

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Osgood-Schlatter disease. Acta Orthop Scand. 1989;60:26. 188. Seringe R, Bonnet J.C, Katti E. Pathogeny and natural history of congenital dislocation of the hip. Orthop Traumatol. 2014;100:59. 189. Shane A, Reeves C, Wobst G, et al. Second metatarsophalangeal joint pathology and Freiberg disease. Clin Podiatr Med Surg. 2013;30:313. 190. Sharp R.J, Calder J.D, Saxby T.S. Osteochondritis of the navicular: a case report. Foot Ankle Int. 2003;24:509. 191. Shibuya N, Jupiter D.C, Ciliberti L.J, et al. Characteristics of adult flatfoot in the United States. J Foot Ankle Surg. 2010;49:363. 192. Shieh A, Bastrom T, Roocroft J, et al. Meniscus tear patterns in relation to skeletal maturity: children versus adolescents. Am J Sports Med. 2013;41:2779. 193. Shipman S.A, Helfand M, Moyer V.A, et al. Screening for developmental dysplasia of the hip: a systematic literature review for the US preventive services task force. Pediatrics. 2006;117:e557. 194. Sibinski M, Murnaghan C, Synder M. The value of preliminary overhead traction in the closed managment of DDH. Int Orthop. 2006;30:268. 195. Smith C.F. Instantaneous leg length discrepancy determination by “thigh-leg” technique. Orthopedics. 1996;19:955. 196. Smith J.T, Matan A, Coleman S.S, et al. The predictive value of the development of the acetabular teardrop figure in developmental dysplasia of the hip. J Pediatr Orthop. 1997;17:165. 197. Smith S.M, Sumar B, Dixon K.A. Musculoskeletal pain in overweight and obese children. Int J Obes. 2014;38:11. 198. Son S.M, Ahn S.H, Jung G.S, et al. The therapeutic effect of tibia counter rotator with toe-out gait plate in the treatment of tibial internal torsion in children. Ann Rehabil Med. 2014;38:218. 199. Song D.H, Lee Y, Eun B.L, et al. Usefulness of tibia counter rotator (TCR) for treatment of tibial internal torsion in children. Korean J Pediatr. 2007;50:79.

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200. Staheli L.T. Rotational problems in children. Instr Course Lect. 1994;43:199. 201. Staheli L.T. Practice of pediatric orthopedics. ed 2. Philadelphia: Lippincott Williams and Wilkins; 2006. 202. Staheli L.T, Corbett M, Wyss C, et al. Lower-extremity rotational problems in children. Normal values to guide management. J Bone Joint Surg Am. 1985;67:39. 203. Staheli L.T, Engel G.M. Tibial torsion: a method of assessment and a survey of normal children. Clin Orthop Rel Res. 1972;86:183. 204. Stevens P.M, Gilliland J.M, Anderson L.A, et al. Success of torsional correction surgery after failed surgeries for patellofemoral pain and instability. Strategies Trauma Limb Reconstr. 2014;9:5. 205. Stevens P.M, MacWiliams B, Mohr R.A. Gait analysis of stapling for genu valgum. J Pediatr Orthop. 2004;24:70. 206. Stevens P.M, Otis S. Ankle valgus and clubfeet. J Pediatr Orthop. 1999;19:515. 207. Stovitz S.D, Pardee P.E, Vazquez G, et al. Musculoskeletal pain in obese children and adolescents. Acta Paediatr. 2008;97:489. 208. Stuberg W.A, Koehler A, Wichita M, et al. Comparison of femoral torsion assessment using goniometry and computerized tomography. Pediatr Phys Ther. 1989;3:115. 209. Sullivan J.A. Pediatric flatfoot: evaluation and management. J Amer Acad Orthop Surg. 1999;7:44. 210. Sultan J, Hughes P.J. Septic arthritis or transient synovitis of the hip in children: the value of clinical prediction algorithms. J Bone Joint Surg Br. 2010;92:1289. 211. Talbot C.L, Paton R.W. Screening of selected risk factors in developmental dysplasia of the hip: an observational study. Arch Dis Child. 2013;98:692. 212. Taxter A.J, Chauvin N.A, Weiss P.F. Diagnosis and treatment of low back pain in the pediatric population. Phys Sportsmed. 2014;42:94. 213. Taylor G.R, Clarke N.M. Monitoring the treatment of developmental dysplasia of the hip with the Pavlik harness: the role of ultrasound. J Bone Joint Surg Br. 1997;79:719.

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214. Theodorou D.J, Theodorou S.J, Boutin R.D, et al. Stress fractures of the lateral metatarsal bones in metatarsus adductus foot deformity: a previously unrecognized association. Skeletal Radiol. 1999;28:679. 215. Trott A.W. Developmental disorders. In: Jahss M.H, ed. Disorders of the foot and ankle. Philadelphia: WB Saunders; 1991. 216. Tsirikos A, Riddle E.C, Kruse R. Bilateral Kohler’s disease in identical twins. Clin Orthop Relat Res. 2003;409:195. 217. Tudor A, Ruzic L, Sestan B, et al. Flat-footedness is not a disadvantage for athletic performance in children aged 11 to 15 years. Pediatrics. 2009;123:e386. 218. Uden H, Kumar S. Non-surgical management of a pediatric “intoed” gait pattern—a systematic review of the current best evidence. J Multidiscip Healthc. 2012;5:27. 219. Uziel Y, Bubbul-Aviel Y, Barash J, et al. Recurrent transient synovitis of the hip in childhood: longterm outcome among 29 patients. J Rheumatol. 2006;33:810. 220. van Bemmel A.F, van de Graaf V.A, van den Bekerom M.P.J, et al. Outcome after conservative and operative treatment of children with idiopathic toe walking: a systematic review of literature. Musculoskel Surg. 2014;98:87. 221. Vukasinovic Z.S, Spasovski D.V, Matanovic D.D, et al. Flatfoot in children. Acta Chir Iugosi. 2011;58:103. 222. Wallach DM, Davidson RS: Pediatric lower limb disorders. In Dormans JP, editor: Pediatric orthopaedics: core knowledge in orthopaedics. Philadelphia: Elsevier Mosby,. 223. Wan S.C. Metatarsus adductus and skewfoot deformity. Clin Podiatr Med Surg. 2006;23:23. 224. Weinstein S.L. Developmental hip dysplasia and dislocation. In: Weinstein S.L, Flynn J.M, eds. ed 7. Lovell and Winter’s pediatric orthopaedics. vol. 2. Lippincott Williams & Wilkins: Philadelphia; 2013. 225. Weinstein S.L. Legg-Calve-Perthes Syndrome. In: Weinstein S.L, Flynn J.M, eds. ed 7. Lovell and Winter’s pediatric orthopaedics. vol. 2. Philadelphia: Lippincott Williams & Wilkins; 2013.

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226. Weinstein S.L. Long-term follow-up of pediatric orthopedic conditions. J Bone Joint Surg Am. 2000;82:980. 227. Wenger D.R. Surgical treatment of developmental dysplasia of the hip. Instr Course Lect. 2014;63:313. 228. Wenger D, Rang M. The art of pediatric orthopedics. New York: Raven Press; 1993. 229. Whalen J.L, Fitzgerald Jr. R.H, Morrisy R.T. A histological study of acute hematogenous osteomyelitis following physeal injuries in rabbits. J Bone Joint Surg Am. 1988;70:1383. 230. Williams C.M, James A.M, Tran T. Metatarsus adductus: development of a non-surgical treatment pathway. J Paediatr Child Health. 2013;49:E428. 231. Williams C.M, Tinley P, Rawicki B. Idiopathic toe-walking: have we progressed in our knowledge of the causality and treatment of this gait type? J Am Podiatr Med Assoc. 2014;104:253. 232. Windisch G, Ander Huber F, Haldi-Brandle V, et al. Anatomical study for an update comprehension of clubfeet. Part I: bones and joints. J Child Orthop. 2007;1:69. 233. Yen Y.M. Assessment and treatment of knee pain in the child and adolescent athlete. Pediatr Clin North Am. 2014;61:1155. 234. Yoon T.L, Park K.M, Choi S.A, et al. A comparison of the reliability of the trochanteric prominence angle test and the alternative method in healthy subjects. Manual Ther. 2014;19:97. 235. Zhou B, Tang K, Hardy M. Talocalcaneal coalition combined with flatfoot in children: diagnosis and treatment: a review. J Orthop Surg Res. 2014;9:129. 236. Zionts L.E. What’s new in idiopathic clubfoot? J Pediatr Orthop. 2014.

Suggested Readings Background Dormans J.P, ed. Pediatric orthopaedics: core knowledge in

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orthopaedics. Philadelphia: Mosby; 2005. Herring J, ed. ed 5. Tachdjian’s pediatric orthopaedics. vol. 1. Philadelphia: Elsevier Saunders; 2005. Staheli L.T. Practice of pediatric orthopedics. ed 2. Philadelphia: Lippincott Williams and Wilkins; 2006. Weinstein S.L, Flynn J.M, eds. ed 7. Lovell and Winter’s pediatric orthopaedics. vol. 2. Philadelphia: Lippincott Williams & Wilkins; 2013.

Foreground Blackmur J.P, Murray A.W. Do children who in-toe need to be referred to an orthopaedic clinic? J Pediatr Orthop B. 2010;19:415. Brady R.J, Dean J.B, Skinner T.M, et al. Limb length inequality: clinical implications for assessment and intervention. J Orthop Sports Phys Ther. 2003;33:221. Committee on Quality Improvement. Subcommittee on Developmental Dysplasia of the hip: Clinical practice guideline: early detection of developmental dysplasia of the hip. Pediatrics. 2000;105:896. Cooper A.P, Doddabasappa S.N, Mulpuri K. Evidence-based management of developmental dysplasia of the hip. Orthop Clin North Am. 2014;45:341. Graf A, Wu K.W, Smith P.A, et al. Comprehensive review of the functional outcome evaluation of clubfoot treatment: a preferred methodology. J Pediatr Orthop B. 2012;21:20. Stovitz S.D, Pardee P.E, Vazquez G, et al. Musculoskeletal pain in obese children and adolescents. Acta Paediatr. 2008;97:489–493. Zionts L.E, et al. What’s new in idiopathic clubfoot? J Pediatric Orthop. 2015;35(6):547–550.

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Sports Injuries in Children Mark Paterno, Laura Schmitt, Catherine Quatman-Yates, and Kathryn Lucas

Youth participation in sports is growing at an exponential rate. Current estimates suggest greater than 30 million to 45 million youths between the ages of 5 and 17 years of age participate in community-sponsored athletic programs.4,321 This represents an increase from roughly 5 million participants in 1970. More than 7.6 million teenagers regularly participate in competitive high school team sports.402 Participation in athletics is a means for our youth to remain physically active and reap the many health benefits of activity. In 2001 the Surgeon General396 reported the incidence of obesity in our youth was reaching epidemic proportions as approximately 15% of children ages 6 to 19 years old are classified as obese and 30% are classified as overweight.309 More recent evidence suggests obesity rates for children between the ages of 2 and 19 years old is now 17%.308 This resulted in a health care expense in excess of $117 billion.131 Current estimates from the Centers for Disease Control and Prevention (CDC) suggest fewer than 65% of adolescents participate in regular physical activity and fewer than 45% are enrolled in a physical education class at their school. Participation in sports likely increases physical activity levels, which is critical to the long-term health of our youth. In addition, participation in

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athletics provides children with an opportunity to enhance their physical abilities and skills as well as for social interaction with their peers. Participation in sports is linked to positive aspects of individual development and academic performance, including higher grade point averages, lower school absentee rates, and overall better behavior. Coinciding with increased participation is the potential for increases in sports-related injury in children. Emergency room data acquired since the later 1990s suggest more than 3.5 million children between the ages of 5 and 14 years old require medical attention for acute, sports-related injuries. In 2008, one study reported nearly 500,000 sports-related injuries requiring an emergency department visit in patients between the ages of 13 and 19 years old in 1 year.296 More concerning is the fact that more than 50% of sports-related injuries in children are likely overuse injuries298 and would not be included in these data. Furthermore, the progression of many children to become specialized in a singular sport early in their life has raised concerns from the American Academy of Pediatrics and other health care organizations about the safety of year-round participation in a single sport with infrequent rest periods and a lack of diversity in activity.11 Attention must be given to the management of unique injuries in this population. However, the child cannot be considered simply a small adult. Children have different structural and physiologic components that must be specifically addressed.393 This chapter provides an extensive overview of sports medicine in children and youth for the pediatric physical therapist. The purposes of the chapter are to review the elements of injury prevention/risk reduction and to discuss those factors that increase risk for sports-related injury in children with and without disabilities. The chapter addresses the types and sites of sports injuries unique to the child and provides considerations for rehabilitation.

Background Information Incidence of Injury 1128

Appreciating the true incidence of sports-related injuries in a young, active population is a challenge because of the varying methodologies in current research. Injury incidence is defined as the number of new cases of a disease (or injury) during a specific period of time, such as an athletic season or a year.211 Incidence can be further subdivided into clinical incidence, which reports the percentage of new cases within a defined population, and incidence rate, which describes the rate of injuries per unit of exposure to activity.68 Incidence rate is a much more powerful descriptor of the risk of injury in a population or within a certain activity and is necessary to accurately compare the rate of injury, normalized to exposure, between populations. Unfortunately, these data in the pediatric sports medicine literature are lacking. Varying methodologies and definitions of injury have hindered development of broad epidemiologic data accurately reporting the incidence of injuries in this population. In addition, many sports with high participation rates have little or no epidemiologic reports in the literature, which limits the ability to assess a documented risk in sports participation. A summary of studies reporting incidence rates for males and females, separated by sport, is listed in Tables 15.1 and 15.2. The highest rate of injuries in males per 1000 hours of exposure occurs in ice hockey, rugby, and soccer. Females experience the highest rate of injury per 1000 hours of exposure in basketball and gymnastics. When injury data are normalized to the number of athletic exposures rather than hours of exposure, higher incidence rates are noted in cross-country running for males and soccer and cross-country running for females.69 With respect to age and participation level, young males appear to experience higher rates of injury as they age.68 Authors theorized that as males grow in body mass, strength, and speed, they have the ability to create greater forces and increase the risk of injury.68,69 Females also grow with respect to height and mass through pubertal maturation, but they may not experience the coinciding development of strength and speed at the same pace as males. This may result in a similar change in risk of injury; however, the increase may be derived from a different mechanism than that theorized in males.

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TABLE 15.1 Summary of Incidence Rates in Boys’ Sports

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Design: P, prospective cohort; R, retrospective cohort.

Data collection: DM, direct monitor; HS, high school; IR, insurance records; MS, middle school; Q, questionnaire; RR, record review. c

AE, one athlete participating in one practice or game in which the athlete is exposed to the possibility of athletic injury. From Caine D, Maffulli N, Caine C: Epidemiology of injury in child and adolescent sports: injury rates, risk factors and prevention. Clin Sports Medicine 27:22-25, 2008.

Anatomic Location In regard to anatomic location, the incidence of lower extremity injury in children is greatest across many sports, including basketball, football, gymnastics, soccer, and track and field.68 Other sports, such as baseball,68 snowboarding,169 judo,332 and tennis,206 result in a greater incidence of upper extremity injuries. Still others, such as wrestling, result in a higher incidence of head injuries.182 Collectively, the anatomic location with the greatest incidence of

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injury in children is the lower extremity, particularly the knee and ankle.68

Incidence of Acute Injuries Acute injuries, often from emergency room visit data, have been reported in the epidemiologic literature for years. Taylor and Attia399 reviewed all sports-related injuries in children between 5 and 18 years of age seen in an emergency room over a 2-year period. They reported 677 injuries, 71% in males. Sports most commonly implicated were basketball (19.5%), football (17.1%), baseball/softball (14.9%), soccer (14.2%), inline skating (5.7%), and hockey (4.6%). Sprains and strains were the most frequent types of injuries, followed by fracture, contusions, and lacerations; these accounted for 90% of all injuries. The National Health Interview Survey estimated that the sports-related injury rate for 5- to 24year-olds was 42% higher than the estimates based on emergency room visits. The highest rate (59.3%) was for 5- to 14-year-olds.96 Lenaway and colleagues234 noted that middle school/junior high students had the highest injury rate, followed by elementary school students and then high school students. Sports, which accounted for 53% of all injuries, were an increasing cause of injury as grade level increased. Location of injury was the playground for elementary ages, the athletic field for middle school students, and the gym for high school students.

Incidence of Overuse Injuries Of more recent concern is the rising incidence of overuse injuries in the pediatric population. Once thought to be a rare occurrence in children, overuse injuries are now estimated to make up more than 50% of injuries in this population.298 This measure is likely a conservative estimate because, unlike acute injuries, which often require immediate medical attention and facilitate data tracking, overuse injuries are often self-managed and as a result are typically underreported. Micheli and Nielson277 reported the mechanism behind this increase in overuse injury is likely due to increased participation in sports and, more specifically, a tendency toward sports specialization in greater numbers of children. Other factors may include an increase in complexity and duration of training at a

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young age, which increases stress to a growing body, and a lack of appropriate coaching and skill training. Specific risk factors for stress fractures and other overuse injuries typically seen in a younger, athletic population are outlined later in this chapter.

Alternative Sports Children and adolescents are becoming more involved in extreme variations of sports as well as increased risk-taking with everyday sports. Various authors have noted significant injury rates with cycling,150,430 exer-cycling,40 riding in all-terrain vehicles,60,204,289 diving,102 snowboarding and skiing,117,177,297,387 and inline skate, skateboard, or scooter use.255,297,301,338 Although many of these injuries are contusions, fractures, and sprains/strains, authors noted significant cases of abdominal trauma with damage to the kidney, pancreas, or liver; head and neck injury; and hand trauma. A multicenter study235 evaluating pediatric cervical spine injuries reported that sports accounted for as many cervical spine injuries as motor vehicle crashes among 8- to 15-year-olds.

Catastrophic Injuries The incidence of catastrophic injuries and fatalities at the high school and college level has been documented for the years 1982 through 2013, with 2101 catastrophic sports-related injuries and illnesses.288 The majority of these injuries were at the high school level (80.8%) and directly attributed to the sport-related activities (66.3% acute traumatic). Of these injuries, nearly 42% were fatal with the remaining nonfatal injuries (1221) leading to permanent functional disability or dysfunction (47%) or full recovery (53%). The most recent data from the National Center for Catastrophic Sport Injury Research report 41 catastrophic injuries in high school (n = 29) and college (n = 12) level sports, a rate of 0.53 injuries per 100,000 participants.288 Football is associated with the greatest number of catastrophic injuries, although data from the 2012 season indicate lower numbers of catastrophic injuries compared to previous seasons. Brain and cervical spine injuries account for most direct injures, with heart and heat-related illness as the major causes of indirect deaths. Head injuries are the primary anatomic area injured in ice hockey at the high school level, with body

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checking being the primary mechanism for all ice hockey injuries.39 National Amateur Baseball Catastrophic Injury Surveillance Program data showed annual fatality, nonfatal catastrophic injury, and serious catastrophic injury rates of between 0.03 to 0.05 per 100,000 participants, with an average of 2 deaths per year in youth baseball from 1996–2006.351 These deaths resulted from impact to the head and from blunt chest impact.351 TABLE 15.2 Summary of Incidence Rates in Girls’ Sports

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Design: P, prospective cohort; R, retrospective cohort.

Data collection: DM, direct monitor; HS, high school; IR, insurance records; Q, questionnaire; RR, record review. c

AE, one athlete participating in one practice or game in which the athlete is

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exposed to the possibility of athletic injury. From Caine D, Maffulli N, Caine C: Epidemiology of injury in child and adolescent sports: injury rates, risk factors and prevention. Clin Sports Medicine 27:26-28, 2008.

Sex Differences in Injury Rates Significant attention has been directed to differences in types and rates of injuries in males and females. A recent study395 compared differences between males and females in pediatric sports-related injuries that included a random sample of 2133 medical records of children aged 5 to 17 years from 2000 to 2009 at a large pediatric hospital. Female athletes had a higher percentage of overuse injuries (62.5%) compared with traumatic injuries (37.5%), whereas the opposite was observed in male athletes (41.9% vs. 58.2%, respectively).395 By body region, females sustained more injuries to the lower extremity (65.8%) and spine (11.3%) compared to males (53.7% and 8.2%, respectively).395 In the upper extremity, males had a greater percentage of injuries compared to females (29.8% vs. 15.1%, respectively).395 At the hip/pelvis, female athletes sustained more overuse (90.9%) and soft tissue (75.3%) injuries compared to males, who sustained more traumatic (58.3%) and bony (55.6%) injuries.395 In particular, the percentage of females with patellofemoral pain was approximately three times greater than males (14.3% vs. 4.0%, respectively), while males were twice as likely to be diagnosed with osteochondritis dissecans (8.6% vs. 4.3%, respectively) and fractures (19.5% vs. 8.2%, respectively).395 The percentage of males and females who sustained anterior cruciate ligament injury was nearly equal (10.0% vs. 8.9%).395 When evaluating injury rates between males and females by sport, Loes and colleagues111 reported that the risk of knee injury was significantly higher for women ages 14 to 20 years than men of the same age in cross-country and downhill skiing, gymnastics, volleyball, basketball, and handball. Hosea and colleagues186 reported increased risk for grade 1 ankle sprains in women basketball players. Sex differences in incidents of anterior cruciate ligament (ACL) injuries have been a focus of pediatric sports-related research. There has been an increase in the incidence of ACL rupture in skeletally immature athletes over the past 20 years.126,212,213,382,383 Among

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skeletally immature athletes, ACL tears are more common in males. It is thought that this is a result of males participating in more demanding organized sports at an earlier age than females.342 However, this trend reverses upon reaching skeletal maturity, with females sustaining more complete ACL tears than males.342 Skeletally mature females are 2 to 10 times more likely to sustain an ACL injury than their male counterparts.349 The underlying mechanism of female sex disparity in ACL injury risk may be rooted in sex-specific changes that occur during pubertal development. Risk factors for primary ACL noncontact injury, specifically for the female athlete, include structural/anatomic,180 hormonal,183 biomechanical, and neuromuscular factors.181

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Prevention of Injuries The key to management of sports injuries in children is prevention. As discussed in Chapter 6, children need proper physiologic conditioning, strength, and flexibility to participate safely in an organized or recreational athletic endeavor. Although lack of fitness, strength, and flexibility does not preclude participation, remediation must be built into conditioning and training programs to decrease the risk of injury. The major elements in the process of injury risk management are preparticipation examination, conditioning and training, proper supervision, protection of the body, and environmental control.391

Preparticipation Examination The preparticipation examination (PPE) is a step in the process of injury prevention. The American Medical Association Committee on Medical Aspects of Sports constructed a Bill of Rights for the Athlete, one part of which is a thorough preseason history and medical examination.16 The underlying goal of a PPE is to ensure the safety and health of athletes during training and athletic participation.388 The original primary objectives of the PPE were to (1) determine the general health of the athlete and detect conditions that place the participant at additional risk, (2) identify relative or absolute medical contraindications to participation, (3) identify sports that may be played safely by the individual, (4) serve as a limited general health screening, (5) fulfill legal and insurance requirements, and (6) evaluate physical maturation.245 Although the goals and implementation of the PPE have evolved over the years, and continue to do so, most agree that they involve the “attempt (of the PPE) to identify those conditions that may place an athlete at increased risk and affect safe participation in organized sports.”95 The fourth edition of the Preparticipation Physical Evaluation (PPE-4)10 contains the most current guidelines for implementation of the PPE, with the primary objectives of screening for conditions that may be life threatening or disabling and screening for conditions that may predispose to injury or illness.270,367 Although

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the efficacy of the PPE pertaining to these objectives is debated,95 recent work429 highlights the need for a comprehensive and uniformly administered approach to PPE, thought to allow for the best opportunity to screen health risk.10,367 Most states require either an individual examination or a multistation screening, with a protocol that should be comprehensive within available resources.10 The primary physician performing an individual examination knows or has access to the athlete’s health records, can discuss sensitive health or personal issues, and may be most qualified to oversee any necessary follow-up care. The time and cost are a disadvantage of the individual examination. Additionally, disparate knowledge and interest among physicians regarding sports and the requirements to participate may hinder effective evaluation for all participants. The multistation approach to PPE is more cost and time efficient and provides a thorough and appropriate screening for all potential participants. Professional experts assess each athlete in the area of her or his specialization (Table 15.3), with the team physician consulting the appropriate specializations.367 State regulations may dictate which medical has the final decision for clearing an athlete for participation, as well as what other providers, aside from physicians, can perform evaluations.367 The timing and frequency of the PPE are often debated and vary depending on level of the athlete. PPE should be performed with enough time prior to the athletic season to allow for the treatment or rehabilitation of identified problems,367 with recommendations of at least 6 weeks prior to the start of participation.245,324 At the collegiate level, athletes often undergo a comprehensive health examination prior to entry with annual examinations thereafter, as dictated by university/college policy.367 Younger athletes may be required to participate in a comprehensive PPE annually, or every 2 to 3 years with annual updates.10,367 In this model a complete entry-level examination and evaluation are followed by annual reevaluation that includes a brief physical examination, a physical maturity assessment, and an examination/evaluation of all new problems. The American Academy of Pediatrics12 has recommended a biannual complete evaluation followed by an interim history before each season. The schedule that meets the primary objectives of the academy,

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however, is a complete entry-level evaluation followed by a limited annual reevaluation that includes a brief medical examination (to evaluate height, weight, blood pressure, and pulse; perform auscultation; examine the skin; and test visual acuity) and an evaluation of all new problems. TABLE 15.3 Preparticipation Physical Examination Stations and Professional Experts for Athlete Assessment Station Sign-in/instructions Height/weight/vital signs

Personnel Ancillary personnel/coach Nurse, nurse practitioner, exercise physiologist, athletic trainer, or physical therapist Visual examination Nurse, nurse practitioner, or coach Dental examination Dentist Medical examination Internist or family practitioner Orthopedic evaluation Physician or physical therapist Flexibility assessment Physical therapist or athletic trainer Strength evaluation Physical therapist, athletic trainer, or exercise physiologist Body composition Exercise physiologist, physical therapist, or athletic trainer Speed, agility, power, balance, Exercise physiologist, coach, or athletic trainer endurance Assessment/clearance Physician

The components of the PPE are the medical history; the medical examination, including cardiovascular and eye examinations; a musculoskeletal assessment; body composition and height and weight determination; specific field testing; and an assessment of readiness, both physical and psychological. Research has identified alterations in movement mechanics, landing patterns, and functional performance that are associated with increased risk of sports-related injuries.322 As such, dynamic functional performance assessments may be implemented into PPE, although this is not standard practice. The components of the examination should be tailored to the specific demands of the sport.

History The medical history is the cornerstone of the medical evaluation 85,245 and identifies the majority of problems affecting athletes.157 Short forms that are easy to complete, written in lay terms, and understandable to young athletes are preferable. Forms should be

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completed by both the athlete and parent/guardian to obtain an accurate and complete history.85 Content areas that should be particularly noted include exercise-induced syncope or asthma; family history of cardiac problems including heart disease or sudden death; history of loss of consciousness, concussion, or neurologic conditions; history of heat injury or stroke; medications; allergies; history of musculoskeletal dysfunction or activity-related injury or joint trauma; history of acute illness; dates of hospitalizations or surgery; absence or loss of a paired organ; immunizations; female maturation including menstrual history; and eating/dieting patterns. A standard form is recommended by the PPE-4.10

Medical Examination The medical examination is used to evaluate areas of concern identified in the history.17 The minimally sufficient examination includes cardiovascular (including blood pressure, pulse, respiration) and eye examinations, and a review of all body systems. Both the American Heart Association258 and PPE-410 describe cardiovascular screening procedures and recommendations. It is recommended that athletes with heart rate over 120 beats/minute, arrhythmias, or systolic or diastolic murmurs be referred for further examination.367 Asthma screening should also be completed, including documentation of medications. Visual acuity is often tested using a Snelling chart and should be correctable to 20/200. Any inequality of pupil diameter or reactivity should be noted so responses after potential injury can be compared with this baseline value. Uncorrectable legal blindness (acuity less than 20/200 or absence of an eye) requires counseling regarding participation in collision or contact sports. The importance of protective eyewear for athletes who wear glasses or have unilateral vision should be stressed.33 Abdominal assessment determines rigidity, tenderness, organomegaly, or the presence of masses. Participation by any athlete with organomegaly is restricted until further tests determine the cause of the enlarged organ.33 Careful examination of the skin is vital in examination of all persons, but it is particularly important for those who will

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participate in contact sports. Participation in these sports should be deferred for children with evidence of any communicable skin disease, such as impetigo, carbuncles, herpes, scabies, and louse or fungal infections.245 Genitourinary examination of males is used to assess the child for testicular presence, descended testicles, and possible inguinal hernia. The genital examination is deferred in girls unless a history of amenorrhea or menstrual irregularity warrants referral. A maturational index, such as Tanner staging, is no longer recommended as part of a routine PPE because there are no data to indicate this leads to injury reduction.91 A more thorough neurologic examination is performed in athletes with a history of head injuries or neuropraxias.324 Documentation of baseline values is important should a subsequent injury occur. Examination may include neck/upper extremity range of motion, strength, sensation, reflexes, and other special tests.10,324 A musculoskeletal and orthopaedic screening and examination may be combined for asymptomatic athletes with no history of previous injuries.95 If an athlete has an injury history or other signs of symptoms during a general screening, a more site-specific examination should be performed.95

Musculoskeletal Examination Although no specific components are required, tests/examinations of flexibility, gait, muscle performance, and joint laxity, as well as a review of prior injury, are frequently included.367 Assessment of posture with particular attention to atrophy, spinal asymmetry, pelvic level, discrepancy of leg lengths, and lower extremity deformities such as genu valgus or varus, patellar deformities, and pes planus is also part of a musculoskeletal examination. Gait should be examined with the athlete walking and running, as well as walking on toes and heels. Passive range of motion and two-joint musculotendinous flexibility should be screened. Muscle strength can be assessed using a manual muscle test, handheld dynamometer, or isokinetic device. Special stability testing of the shoulders, knees, and ankles should be conducted if the child has had a previous injury or if the current assessment indicates that instability may be present. Dynamic functional performance

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assessments, general and sports specific, may also be implemented to identify potential injury risk.

Medication Use The PPE can be utilized to screen for involvement in risky health behaviors such as tobacco and alcohol use and use of recreational drugs or ergogenic aids. All medications and supplements currently used by the athlete should be reviewed by the examiner.95 From 3% to 12% of adolescent males and 1% to 2% of females report having used steroids.24,432 The most compelling reasons for taking steroids are to increase body weight and muscle mass, decrease fatigue, and increase aggressive behavior. The adverse effects of steroid use include hypertension, hepatitis, testicular atrophy, loss of libido, hepatic carcinoma, and premature epiphyseal closure.48 Warning signs of steroid abuse include irritability; sudden mood swings; puffiness in face, upper arms, and chest; sudden increases in blood pressure and weight; yellowish coloration around the fingernails and eyes; hirsutism; and deepening of voice and acne in girls.262 Other substances that have been utilized to increase muscle performance include DHEA (dehydroepiandrosterone), branched chain and essential amino acids, creatine, growth hormone, and dietary supplements containing nandrolone and testosterone. Designer steroids have been introduced to provide the effects of steroid use but avoid detection. Other dietary substances including ephedra and carnitine have been utilized to increase energy and endurance, suppress appetite, and promote weight loss.38,170 These natural elements have been touted in popular literature as aids for growth, performance, immunity, and healing and are used by both high school and college athletes, as well as professional athletes. Research has not supported the efficacy of these substances for performance enhancement with the exception of creatine378 and carnitine.218 Existing research has examined these substances in young adults; no research has been done in the pediatric population under the age of 18 years. Research has reported potential risk and harm with ingestion of substantial amounts of several substances, including steroids and nandrolone, ephedra, and branched chain amino acids. The use of ephedrine-containing compounds has been banned by

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most professional and collegiate sports organizations, as well as the National Federation of State High School Associations. Diuretics are frequently used to “make weight” for an event or to mask drug usage. Performance may, however, decrease as a result of dehydration or electrolyte losses.48,262 Likewise, stimulants such as caffeine and amphetamines are commonly abused in an effort to increase performance in sports. They serve only to mask normal fatigue and to increase aggression, hostility, and uncooperativeness and can lead to addiction and death.419 The use of barbiturates, antidepressants, and beta-blockers has been noted in sports in which fine control is required, such as shooting and archery. Although they do calm the nervous system and lower heart rate, even therapeutic doses may cause bronchospasm, hypotension, and bradycardia.280 The use of recreational drugs, including nicotine, smokeless tobacco, alcohol, marijuana, cocaine, and even heroin, is increasing among youth. Symptoms such as agitation, restlessness, insomnia, difficulty with short-term memory or concentration, and decline in performance might signal behavior indicative of substance abuse.89,160

Specific Field Tests Field testing is done to assess specific athletic potential in a specific sport. The components assessed are muscle strength, muscle power, endurance, speed, agility and flexibility, and cardiovascular performance. Field test performance has been shown to identify deficits from previous injury that standard physical examination may not define.295 General muscle strength can be assessed with a maximal activity pertinent to the sport, such as bench presses, pull-ups, or push-ups for the upper extremities and leg presses or sit-ups for the lower extremities. Endurance can be assessed by performing as many repetitions of the task as possible. Muscle power can be evaluated with vertical jumping, performing a standing long jump, or throwing a medicine ball, as appropriate. Speed is evaluated using a 40- or 50-yard dash, and agility can be assessed with the Vodak agility test147 or a similar battery of tests. The most common, standardized methods of assessing flexibility

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are the sit and reach test, which has norms for children, and active knee extension performed in a supine position with the hips flexed to 90°.189 Cardiovascular performance is most easily assessed using a submaximal test on an appropriate device, such as a cycle ergometer, treadmill, or upper-body ergometer. A field test for cardiovascular performance is the 12-minute run or the timed 1.5mile run.33,65,229 Field tests that involve jumping and sprinting have been correlated to laboratory results.29

Limitations and Outcomes of the PPE Despite efforts to create a thorough and comprehensive PPE, it is not without limitations. The PPE is designed to identify lifethreatening contraindications to sports participation. In addition, the PPE is able to identify various static musculoskeletal deficiencies. However, often some PPE settings do not address more dynamic risk factors. More concerning is the lack of follow-up that may occur if deficits are identified. McKeag et al.269 reported 10% of athletes receiving a PPE present with a musculoskeletal disorder; however, others have noted that only 1% to 3% of athletes are referred for intervention following a PPE.390 Although many athletes are identified with musculoskeletal deficits, the deficits are often not addressed. Future work should focus on increasing the ability of the PPE to identify dynamic risk factors for injury and create a more seamless approach to recommend intervention for those athletes who are identified at risk. The outcome of the PPE determines the level of clearance to participate in sports. Clearance can be unrestricted for any sport or restricted to specific types of sports in the following manner: (1) no collision (violent, direct impact) or contact (physical touching), (2) limited contact or impact, or (3) noncontact only. The American Academy of Pediatrics has developed a classification system for sports activities and recommendations for restriction of participation that are excellent guides in making decisions for individual athletes.11

Training Program The preseason examination clearly defines the individual athlete’s

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areas of strength and limitations (Fig. 15.1). The next appropriate step in prevention is the development of an individualized training plan designed to address the particular problems of the athlete as they relate to the requirements of the sport(s) (Box 15.1). This program could be developed by a sports physical therapist, athletic trainer, or exercise physiologist involved in the preseason screening. Once developed, it should be taught to the athlete, the parent, and the coach. The training program should be a systematic, progressive plan to address the athlete’s weaknesses and to maximally condition the athlete for participation. Training consists of off-season, preseason, in-season, and postseason programs for year-round conditioning and for development of appropriate peak performance. Components should include energy training (aerobic foundation and anaerobic training), muscle training (strength, endurance, flexibility, and power), speed, and proper nutrition. A welldeveloped, variable, and well-paced program will help the young athlete to avoid boredom and potential overuse injury. The psychological effects of year-round training, or exercise in general, are controversial and not well documented. The risk-benefit ratio, however, tends to favor exercise for improvement of mood, selfconcept, and work behavior when competition is sensibly controlled.282

B O X 1 5 . 1 Text

Box for Examination

Body Functions and Structures • Range of motion with goniometry • Muscle strength, power, and endurance with isokinetic assessment • Ligament integrity/stability with manual assessment • Joint laxity with the Beighton-Horan screening • Posture • Gait with visual observation • Dynamic movement assessment with visual assessment • Functional Performance Testing with single-leg hop testing

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Activities and Participation • Tegner Activity Scale • Marx Activity Scale • HSS Pedi-FABS

Other (e.g., Environment, QoL when applicable) • PedsQL QoL, quality of life.

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FIG. 15.1 Athletic fitness for boys and girls.

(From Gaillard

B, Haskell W, Smith N, et al.: Handbook for the young athlete. Palo Alto, CA, Bull Publishing, 1978.)

Energy Training

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The basis of energy training, a strong aerobic base, should be developed during the off-season. Good training consists of lowintensity, long-duration activity with natural intervals of low- and moderate-intensity work that is sport-specific. Swimming would be a good choice for the field athlete, and cycling or running is appropriate for those in track, soccer, and football. Training on hills or performance of similar resistance efforts should be executed in moderation or in an interval fashion with other activities. Children exhibit less efficient movement patterns and a lower maximal acidosis level. Their greater surface area–to–body mass ratio facilitates greater heat gain on hot days and greater heat loss on colder days. Children produce less sweat and less total evaporative heat loss. Children produce more metabolic heat per pound of body weight during exercises, such as walking and running. Finally, although children can acclimatize, they do so at a slower rate than adults.125 Consequently, intense training in the extreme heat and hard training involving long durations should be minimized until puberty. Anaerobic training programs consist of exertion at 85% to 90% of maximal heart rate for short periods. Anaerobic fitness is a person’s ability to generate a high level of mechanical power over a short period of time. Optimal training levels to achieve peak anaerobic fitness are often debated; however, biweekly anaerobic training is often recommended for maximal benefit. Methods including interval training, fartlek (speed play, or alternate fast and slow running in natural terrain), and pace training are variations of the anaerobic method. Sport-specific anaerobic skills should be developed during preseason and early-season activities.288 Young children are less capable to see significant increases in anaerobic fitness due to anatomic and physiologic differences in the skeletally immature athlete. As a result, this training is difficult for young athletes and has less impactful fitness benefits until they mature. Some training should be used, however, to achieve relaxation and mechanical efficiency at these levels.

Resistance Training (Strength Training) The use of resistance training (strength training) in prepubertal children has been controversial. Historically, clinicians and

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researchers believed individuals with growing bones and open growth plates should not participate in resistance training because it could potentially place the open growth plates at risk for injury. In 1983 the American Academy of Pediatrics issued a position statement that suggested that resistance training in a prepubescent athlete may not only be a high-risk activity but also may be unlikely to result in a significant increase in strength because of the lack of circulating androgens in this population. Importantly, recent evidence suggests both of these fears are unfounded, and several professional organizations now advocate appropriately implemented resistance training as an intervention for young athletes.243 With regard to efficacy of resistance training, several research studies have demonstrated that strength can be improved by systematic overload of muscle in postpubescent athletes with results similar to training in adults.42,282 The mechanism of this gain in strength is likely related to neural adaptations in the muscle and not secondary to an increase in cross-sectional area or hypertrophy of muscle tissue.122 Similar to an adult who initiates a resistance training program, initial gains in strength in the first 4 to 6 weeks after onset of training are due to neural adaptations in the muscle. Only after this initial neuromuscular change do adults see a change in their muscle diameter, which may result in continued progression of strength. Children have the potential to experience a similar neuromuscular adaptation, which can increase strength despite the absence of circulating androgens, once thought to be necessary to see any increase in strength.123,167 Safety during resistance training is a priority in a population of young athletes. Initial epidemiology data regarding injuries during resistance training suggested a high incidence of injury in a population of young individuals. However, more recent evidence suggests the incidence of injury is relatively low and, with certain precautions, this risk can be reduced even further.290 Many of the injuries reported by Myer and colleagues identify accidents as the primary cause of injury in the weight room with a young population. As a result, current guidelines regarding resistance training in young athletes suggest appropriate supervision be present at all times to minimize the chance of these accidental

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injuries. In fact, professional organizations such as the American College of Sports Medicine, the National Strength and Conditioning Association, and the American Academy of Pediatrics suggest that resistance training is a safe and effective intervention in young athletes.122 Furthermore, resistance training has also been shown to be effective in reducing various lower extremity injuries.233 Through the joint contributions of these professional organizations, a general consensus on the safe initiation of resistance training in a young population has been issued.290 These recommendations suggest a young athlete should have sufficient emotional maturity to accept and follow directions prior to initiating a resistance training program. Appropriate supervision should be available at all times to reduce the risk of accidental injuries and also to provide regular feedback regarding the “technique” of each lift. A primary goal of the onset of a resistance training program is to develop good lifting technique at an early age. Supervision is necessary to ensure this development. Finally, a dynamic warm-up is always recommended, and an appropriate volume and intensity of each activity should be initiated and monitored. Specifically, young athletes should avoid executing one maximum repetition and should focus on the use of lighter weight with higher sets and repetitions rather than using lower sets and striving to gain power. Together, these factors have resulted in a safer and more efficacious algorithm for resistance training participation by young athletes.

Speed Current evidence suggests the proportion of fast twitch fibers in muscle is largely determined by genetic code, with little potential to change fiber type. Hence speed is somewhat genetically determined. All athletes, however, can train the intermediate muscle fibers and improve the components of reaction and movement time. This can result in relative improvements in speed and quickness.227 Faster reactions are taught in sport-specific practice drills, such as starts, acceleration drills, or play drills, that gradually narrow choice. Movement time is enhanced from a base of flexibility and strength with ballistic motions, sprint loading (explosive jump or throw), overspeed, or resisted sprinting.381

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Proper Supervision The first in the series of supervisors is the coach, the key to a successful sports program. However, 2.5 million adult volunteers with varying levels of expertise coach approximately 20 million children. The American Academy of Pediatrics has stated that coaches should encourage preparticipation screenings annually, enforce use of warm-up procedures, require suitable protective equipment, and enforce rules concerning safety. In addition, it recommends completion of a certification program that covers teaching techniques, basic sports skills, fitness, first aid, sportsmanship, enhancement of self-image, and motivational skills.12 Qualified officials and professional medical personnel at games and practices are the second level of supervision. These individuals provide game control and immediate injury containment onsite. Medical personnel could include physicians, physical therapists, or athletic trainers who have certification in basic first aid and cardiopulmonary resuscitation techniques in addition to their medical skills.12,343

Protection Outfitting the child athlete with proper equipment should be mandated and enforced for the protection of the participants. Equipment must be appropriate for the sport. High quality and proper fit are essential to correct function. Proper footwear with adequate cushioning, rearfoot control, and sole flexibility for the sport should be required.282 Protective padding in contact or kicking sports, such as shoulder and shin pads, should be required. Protective headgear for contact and collision in football, baseball, and hockey is necessary to limit the number of head and neck injuries. Schuller and colleagues375 have demonstrated a lower risk of auricular damage in wrestlers wearing headgear (26% incidence) versus those with no headgear (52% incidence). Helmets should be approved by the National Operating Committee on Standards for Athletic Equipment (NOCSAE) and the American National Safety Institute.307,327 Eye injuries remain a common occurrence in athletics with nearly

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40,000 sports-related eye injuries reported in the National Electronic Injury Surveillance System Database.416 It is estimated that as many as 90% are preventable.331 Eye protectors that dissipate injury to a wider area without reducing visual field should be required in racquet sports, ice hockey, baseball, basketball, and football and during use of air-powered weapons. They should be cosmetically and functionally acceptable and made of impact-resistant material. Polycarbonate is the most impact- and scratch-resistant material. A list of high-risk sports and recommended protection is given in Table 15.4. All eye protectors should be approved by either the Canadian Standards Association or the American Society for Testing and Materials. Studies have highlighted the incidence of oral and facial injuries in many sports, particularly football, hockey, baseball, basketball, wrestling, and boxing.148 Before mandatory use of mouthguards, oral trauma constituted 50% of all football injuries.272 The mandatory use of mouthguards has cut the injury rate of oral trauma in football to fewer than 1% of all injuries.205 The mouth protector serves to prevent injury to the teeth and lacerations of the mouth. Because it absorbs blows to the oral and facial structures, it also prevents fractures and dislocations. It should position the bite so the condyles of the mandible do not contact the fossae of the joints. These mouthguards should be inexpensive, strong, and easy to clean and should not interfere with speech or breathing. They should be used alone in field hockey, rugby, wrestling, basketball, and other field events and used in conjunction with face protectors in football, ice hockey, baseball, and lacrosse.

Environmental Control Assessment and control of the environment are also vital to the safety of the child athlete. The playing area should have adequate lighting and be maintained for safety. Surfaces should be free from obstacles and smooth and even, with good shock-absorbing qualities (wood as opposed to concrete). Modifications of equipment that have been shown to decrease injury (e.g., breakaway bases) should be installed. Sports equipment and playing environments should be scaled down to the size of the

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athlete.282 TABLE 15.4 Risk Level for Eye Injury With Recommendations for Protective Eyewear

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From Jones N: Eye injury in sport. Sports Med 7:163-181, 1989.

Ambient temperature and humidity should be carefully

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monitored. During exercise, children require more fluid replacement per kilogram of body weight than adults to avoid dehydration. Children have a greater surface area per body weight, so their rate of heat exchange is greater with lower ability to endure exercise in climatic extremes. They also have a distinctly deficient ability to perspire, so they carry a larger heat load. They acclimatize less efficiently and require more “exposures” for acclimatization to occur.350 Exercise should be modified if the wet bulb temperature (an index of climatic heat stress) is above 75°F.13 Dehydration can be avoided by drinking plenty of liquid before, during, and after play. Thirst is not a valid indicator of the amount of water needed, so every pound (16 oz) lost should be replaced with two cups (16 oz) of water.329 The American College of Sports Medicine8 recommends that 400 to 500 mL of water be ingested before distance running. It further recommends water intake every 35 to 45 minutes of football practice and nude weighing before and after practice. If residual weight loss from day to day exceeds 2 to 3 lb, practice is restricted until water is replenished. Recommendations for hydration include prehydration of 3 to 12 oz (3 to 6 oz for < 90 lb; 6 to 12 oz for > 90 lb weight) 1 hour before activity, and 3 to 6 oz just prior to activity. During activity 3 to 9 oz (3 to 5 oz for < 90 lb; 6 to 9 oz for > 90 lb) should be ingested every 10 to 20 minutes relative to the temperature and humidity. Eight to 12 oz should be consumed for each pound of weight lost in 2 to 4 hours following activity (Table 15.5).75 TABLE 15.5 Recommended Fluid Intake and Availability for a 90-Minute Practice

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∗

No practice recommended.

From Peterson M, Peterson K: Eat to compete: a guide to sports nutrition. Chicago, Year Book Medical, 1988,

Successful hydration programs involve not only fluid intake but also fluid availability. Cool fluids infuse into the system more readily, so accessible liquids should be chilled or ice provided. Education of everyone involved with the activity, including parents and participants, is of paramount importance to ensure continued compliance. Knowledge of the common signs of dehydration— irritability, headache, nausea, dizziness, weakness, cramps, abdominal distress, and decreased performance—assist those involved with early recognition and intervention.75

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Risk Factors for Injury Injury can be the result of a single macrotrauma or of repetitive microtrauma.277 Seven risk factors for repetitive trauma, or “overuse,” have been identified: (1) training errors; (2) musculotendinous imbalances of strength and/or flexibility; (3) anatomic malalignment of the lower extremity; (4) improper footwear; (5) faulty playing surface; (6) associated disease states of the lower extremity such as old injury or arthritis; and (7) growth factors.249,275,398

Training Error Training error is frequently the cause of overuse injuries in children, as it is in adults. Dramatic increases in the total volume of activity, an increase in the rate of progression of training, or an attempt to participate at a level above the capacity of the athlete is a often identified as a mechanism of overuse injury.4,277 The evolution of sports specialization has contributed to this phenomenon because more children are attempting to participate in several seasons of a single sport throughout the year. This results in few rest periods throughout a year and an increased focus on intense training. A sudden transition from casual, free play to 6 or 8 hours of intense participation daily, as may occur in a camp setting, has also contributed to the increased incidence of overuse injury in children.185

Muscle-Tendon Imbalance Muscle-tendon imbalance can occur in strength, flexibility, or training. Until recently, little attention was paid to conditioning in children. This position may have been appropriate for free play activities but not for organized sport. The repetitive, often predictable, demands of a sport may result in imbalances of muscle and tendon unless the child is on a well-designed training plan. For example, an overhead athlete, such as a swimmer who does breast stroke, might develop a loose anterior capsule and a tight posterior

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capsule. This imbalance can lead to secondary shoulder impingement or excessive anterior shoulder laxity and even subluxation. Similarly, repetitive running can create strength and tightness in the quadriceps femoris and triceps surae muscles with relatively weaker hamstrings. This could be problematic if pace and hence stride length are increased.

Anatomic Malalignment Anatomic malalignment, such as leg length difference or abnormal frontal and rotational plane alignments, can be a factor in the occurrence of injury. Anatomic malalignments may result in compensations for abnormally high forces created by the altered alignment under the demands of a sport. For example, femoral anteversion in a young dancer can cause compensatory excessive tibial external rotation and ankle pronation as substitutes for natural hip external rotation. Hyperlordosis of the spine or hyperextension of the knee creates abnormal loading on portions of the joint, leading to pain and increased risk of injury. Pes planus can increase the valgus moment at the knee, as well as allowing the weight of the body to land on a flexible foot. This malalignment can cause pain and abnormal wear on the medial knee joint and foot.

Improper Footwear and Playing Surface Well-fitting shoes with a firm heel counter, slight heel lift, and flexible toe box are essential for the young athlete. Inadequate footwear that does not support the structures of the foot can lead to a number of foot and lower extremity problems. The shoe should compensate for changes in alignment and shock absorption. Likewise, improper playing surfaces can predispose the child to knee pain, shin splints, or stress fractures. These symptoms have been associated with playing on hard, banked surfaces or synthetic courts, as opposed to clay and hardwood surfaces.282

Associated Disease States Associated disease has the potential to result in compensatory movement patterns during physical activity that may predispose

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athletes to overuse injuries. Conditions such as Legg-Calvé-Perthes disease (see Chapter 14) or juvenile idiopathic arthritis (see Chapter 7) may result in abnormal lower extremity alignment or abnormal movement patterns during dynamic activities, which may exacerbate joint pain or synovitis. Evaluation of dynamic movement patterns is an appropriate screening in these athletes to attempt to determine their risk for future injury.292

Growth Factors The first aspect of growth that is a factor in overuse injuries is the articular cartilage (Fig. 15.2). Clinical and biomechanical evidence suggests that growing cartilage has low resistance to repetitive loading, resulting in microtrauma to either the cartilage or the underlying growth plate. Damage may result in osteoarthritis or growth asymmetry.275

FIG. 15.2 Sites of susceptibility of the growth

cartilage. (Redrawn from Micheli L: Overuse injuries in children’s sports: the growth factor. Orthop Clin North Am 14(2):337-360, 1983.)

Growing articular cartilage is also less resistant to shear, particularly at the elbow, knee, and ankle. Repetitive shear has been

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implicated in osteochondritis dissecans of the capitellum in Little League pitchers and of the proximal and distal femur and talus in runners. Debate exists in the literature as to the etiology of osteochondritis dissecans; however, some authors postulate that a segment of subchondral bone becomes avascular and separates with its articular cartilage from the surrounding bone to become a loose body.433 Shear stress has also been implicated in epiphyseal displacement.433 The final site of growth cartilage weakness is the apophysis. The apophysis is a point of attachment of the tendon to the bone and represents an ossification center of the bone. Apophysitis is inflammation secondary to microavulsions at the bone-cartilage junction caused by repetitive motion and overuse at times of rapid growth. The apophysis will ultimately fuse as the child matures; however, until this time it is vulnerable to overuse injuries.43 Increasing evidence suggests that traction apophysitis, such as Osgood-Schlatter disease, Sever disease, and irritation of the rectus femoris or sartorius muscle origins, is the result of degeneration of the growth center with tiny avulsion fractures and associated healing.316,321 The second element of growth involved in overuse injury is abnormal stress created by longitudinal growth. Long bone, longitudinal growth occurs initially in the bones, with secondary elongation of the soft tissues. During periods of rapid bone growth (“growth spurts”), the musculotendinous structures tighten and cause loss of flexibility. A coincidence of overuse injury and growth spurt has been noted.275 The biomechanical properties of bone also change with growth and maturation. As bone becomes less cartilaginous and stiffer, the resistance to impact decreases. Sudden overload may cause the bone to bow or buckle. The epiphysis, defined as the area of growth in the long bones, is more susceptible to injury and may shear or fracture. Examples of this process include avulsion fracture of the ACL, avulsion fracture of the ankle ligament, and growth plate fractures. Because fractures through the epiphysis can be difficult to visualize on radiographs, any injury to the epiphyseal area is considered a fracture and is treated as such in order to avoid potential growth disturbance.250 Growth plate fractures are typically classified with a Salter-Harris classification system. Salter-Harris I

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fractures represent a traction injury to the growth plate. More significant Salter-Harris II–V fractures involve additional portions of the bone and may represent more significant injuries that may affect growth.364

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Types of Injuries Although injuries in children have some similarity to those in adults, several are unique to the growing child. These specific injuries fall into three categories: (1) fractures, (2) joint injuries, and (3) muscle-tendon unit injuries.152,275

Fractures A relatively new injury in children is the stress fracture, which usually results from repetitive microtrauma or poor training. Repetition causes cancellous bone fractures as opposed to cortical bone fatigue in adults.90,249 These cancellous bone fractures are often imperceptible on radiographs until 6 to 8 weeks after the onset of pain. Clinical signs and symptoms indicative of a stress fracture can be confirmed by imaging tools, such as a bone scan or magnetic resonance imaging (MRI), to appropriately diagnose this condition. Stress fractures cause persistent, activity-related pain that can be reproduced by indirect force to the bone. Growth plate or epiphyseal fractures are unique to the child. The cartilaginous growth plate is less resistant to shear or tensiledeforming force than either the ligament or bony cortex, so mechanical disruption frequently occurs through the plate itself, usually in the zone of hypertrophy.249 This disruption can be caused by a single macrotrauma, such as jumping, or by repetitive microtrauma as in distance running. The potential for problems from epiphyseal fracture depends on the specific plate involved and on the extent of the injury. Physeal fractures are often classified according to a system proposed by Salter and Harris (Type I, fracture line within the physis; Type II, fracture line also extends to metaphysis; Type III, fracture line begins in physis and exits through epiphysis toward the joint; Type IV, involves a vertical split of the epiphysis, physis, and metaphysis; and Type V, involves crush injuries to the physeal plate).119,364 The risk of growth disturbance following a physeal injury will vary depending on the nature of the injury and the individual’s characteristics (i.e., injury during adolescence when growth is accelerated).119 Shaft fractures

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are more common in the older child who is approaching adult status.133

Joint Injuries Joint injuries in the young athlete include fractures (discussed above), ligamentous sprains, and other internal derangement. These injuries may result from a single discrete injury or from repetitive microtrauma. The diagnosis of ligament sprain must be made carefully in the child. During a growth spurt, ligaments may be stronger than the growth plate, so excessive bending or twisting forces cause the growth plate rather than the ligament to yield. Careful clinical examination and evaluation including physical examination (with special testing) and assessment of the mechanism of injury can assist in accurate differential diagnosis. Differential diagnosis can be further aided by imaging studies. The clinical assessment of ligamentous integrity can be complicated by the variability in anatomy and tendency for greater physiologic laxity, emphasizing the importance of side-to-side comparisons with ligamentous and soft tissue integrity examination. Often concomitant with ligament injuries are internal derangement of the joint, including meniscus (in the knee) and chondral injury. Although the true incidence of meniscus tears (knee) and chondral involvement in children is not known, there is a rise in the occurrence or recognition of these injuries in the pediatric and adolescent population.

Muscle-Tendon Unit Injuries Another area at particular risk of injury in the growing child is the insertion of the musculotendinous unit into the bone through the apophyseal cartilage. Growth occurs at the apophyseal growth plate, where tendons and ligaments are attached. During growth spurts the increased tension on the attachments often leads to detachment of the structure at the apophysis (avulsion fracture). Tendonitis occurs much less frequently in the child than in the adult because the insertion becomes symptomatic before the tendon.4 Irritation of the insertional area of the musculotendinous unit, the

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enthesis, can cause pain and inflammation. This area is highly vascular and metabolically active. Pain and inflammation can cause inhibition of muscle activity with resultant weakness and loss of flexibility, potentially initiating a cycle of greater irritation and pain. In addition to experiencing acute injuries, children can overuse muscles, resulting in strain, just like adults. Children may also sustain injury or irritation to growth plates due to traction apophysitis from muscle attachment; such is the case with OsgoodSchlatter disease and Sinding-Larson-Johansson disease.

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Sites of Injury Mechanism, presentation, and management of injuries in children are often unique when compared to adult populations secondary to their developing anatomy and periods of rapid growth. The following sections will discuss the unique aspects of these various conditions in the pediatric and adolescent athlete.

Concussions Concussion was defined at the Fourth International Conference on Concussion as “a complex pathophysiologic process affecting the brain, induced by traumatic biomechanical forces.”268 Generally, a concussion results from either compression, tensile, or shearing forces imposed on the brain and can be caused by a direct blow to the head, face, or neck or an impact to any body part that results in an impulsive force that is transmitted to the head.268 It is important to recognize that a concussion may or may not result in a loss of consciousness.268 Symptoms and signs from a concussion often emerge immediately following the injury; however, they may also evolve and develop over several hours, days, or even weeks.82,268 Diagnosis of a concussion is typically indicated by new onset or worsening of at least one of the following criteria after a suspected head injury has occurred254,268: Any period of loss of or decreased level of consciousness A loss of memory for events immediately before or after the injury Any alteration in mental state at the time of injury such as confusion, disorientation, slowed thinking Signs or symptoms such as headache, slowed reaction times, dizziness, nausea, vomiting, sleep disturbances, irritability, emotional lability, feeling like in a fog, difficulty concentrating, visual disturbances, sensitivity to light or sound Historically concussions have been viewed as relatively benign injuries. However, mounting evidence indicates that concussions can lead to multiple short-term impairments and potential longterm adverse outcomes such as cognitive declines, persistent motor control deficits, and actual structural changes in the brain (e.g.,

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chronic traumatic encephalopathy).35,103–105,252,267,268,271 Lifethreatening complications from concussion include intracranial hemorrhage such as epidural and subdural hematoma. The leading cause of death from head injury is intracranial hemorrhage. Cantu and Mueller73 reported that 86% of brain-injury deaths resulted from subdural hematoma. Symptoms of an epidural hematoma include initial preservation of consciousness with increasingly severe headache, lethargy, and focal neurologic signs. An acute subdural hematoma is the most common fatal head injury and should always be considered as a possible diagnosis in the athlete who loses and does not regain consciousness. A chronic subdural hematoma should be suspected in the athlete who is demonstrating abnormal behavior for days or weeks after a head injury. Signs may include progressive, worsening symptoms or new neurologic signs, persistent vomiting, deteriorating mental status, and the onset of seizures.266,268 These conditions represent medical emergencies, and these patients should be immediately transported to emergency medical facilities.

Concussions Incidence An estimated 1.6–3.8 million sport-related traumatic brain injuries occur in the United States each year,228 a majority of which are mild traumatic brain injuries or concussions.228 Pediatric patients make up a large portion of concussion injuries, with approximately 100,000 emergency department visits for concussion occurring for school-age children in the United States each year.274,359 The actual incidence of concussions in youth is likely much higher because a large percentage of concussion injuries go unrecognized, unreported, or untreated.359 Concussion rates differ by sport and gender, with boys experiencing more sports-related concussions overall, while girls have a higher concussion rate when comparing similar sports.241,257,359 Football, ice hockey, lacrosse, and wrestling have been reported as sports with the highest risk for concussion for boys, and soccer, lacrosse, ice hockey, field hockey, and basketball are reportedly the highest-risk sports for girls.257,359 Attempts to classify the severity of concussions have been controversial because these approaches are often dependent upon loss of consciousness and amnesia, both of which have been shown

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to be poor predictors of injury severity.154 As of February 2014, all 50 states and the District of Columbia have enacted legislation designed to help protect youth athletes. Most of these laws mandate that a child should not return to play the same day a suspected head injury has occurred and that a licensed health care provider must medically clear the athlete. Coinciding with an increase in the media attention surrounding concussive injuries and the enactment of the legislation, there has been a significant rise in health care utilization for concussive injuries as evidenced by the rates of pediatric concussion referrals to neurologists increasing by approximately 150% between 2008 and 2012.

Concussion Evaluation Evaluation of a concussion is a multifactorial process, and a wide array of assessment tools are available to assist in the diagnosis and monitoring of concussive injuries. The initial assessment of the injury should occur on the field or at the time of injury if a potential head injury is suspected. There are a variety of sideline assessment tools that are now available such as the Sport Concussion Assessment Tool (SCAT3) and the Child-SCAT3 (for ages 5 to 12 years).81,368 The SCAT 3 and Child-SCAT3 are standardized tools for evaluating individuals with a suspected head injury that were designed for use by medical professionals. These tools provide specific, detailed instructions about how to conduct and record results for a series of background questions, the Glasgow coma scale, and cognitive and physical evaluation strategies. TABLE 15.6 Examples of Postconcussion Assessment Options and Strategies

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Concussions are generally considered to represent a functional rather than a structural brain injury because in many cases conventional neuroimaging techniques such as computed tomography (CT) and MRI result in no abnormal findings.359 However, various advanced neuroimaging techniques have demonstrated microstructural and functional brain changes in concussed individuals.359 Even so, imaging is not often recommended for most patients with concussions as the cost and time to administer these tests do not typically result in changes in clinical management.268,359 It also recommended that a few days after injury patients be reassessed with neurocognitive screening techniques, symptom indices, and physical assessments. This is an area where the role of physical therapists in postconcussion care is evolving. Physical therapy evaluations for identification of postconcussion impairments in the postural control,76-78,164,165 musculoskeletal,373 vestibular/oculomotor,377,415 and cardiovascular systems are becoming more common.217,230-232 Much like the screening tools that are available for sideline assessments of concussions, a variety of options and strategies for screening for potential postconcussion impairments in patients in physical therapy clinics are also available (Table 15.6). Evaluation order and strategies may be individualized according to patient-specific symptoms, goals, and medical history.

Concussions Management and Recovery Animal models suggest that there is a brief window of brain vulnerability following a concussion that appears to resolve gradually over 7–10 days.82,359 It is unclear how well these findings generalize to the human population. Nevertheless, it is generally recognized that a typical recovery period for concussion is approximately 7–10 days for adults and about 2–4 weeks for

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children. Second impact syndrome is a potentially fatal condition that results from a second head injury being sustained before full resolution of an initial concussion. Young brains may be especially vulnerable to the rare but catastrophic occurrence of second impact syndrome.265,266 Consequently, current recommendations for initial management of concussions focus on rest until symptoms resolve or are back to baseline in a resting state. Specific return-to-activity recommendations are controversial because the progression to activity should be individualized to each patient and focused on symptom and impairment recovery rather than days since the injury occurred. A gradual return to activity program is generally accepted as the safest way to help progress a patient back to preinjury activity levels (Table 15.7). If symptoms arise during this progression, modification should be made to allow the symptoms to resolve. Special consideration should be given to the individual who has suffered multiple concussions, and the potential disqualification for contact sports should be considered. In general, young athletes represent a unique population in the presence of concussions. The brain of a young athlete is still developing, and as a result the effect of a concussion in this population is still unknown.82,112,166,171 General consensus in the literature does suggest that a more conservative approach to concussion management should be implemented in this younger population.253 Therefore advancement through rehabilitation including time to return to play is often slower in this population. Future research needs to focus on better understanding the effects of concussion on a developing brain and developing more evidence-based guidelines related to management and return to activity following a concussion in a young athlete. Approximately 10% to 30% of individuals who sustain a concussion will continue to experience persistent traumatic brain injury symptoms for months to years after the injury.386 Individuals whose symptoms last for more than 4 weeks and fit the World Health Organization’s diagnostic criteria are often diagnosed with postconcussion syndrome (PCS).314,315 A rapidly emerging field of practice in physical therapy is the treatment of patients with PCS using physical therapy interventions. There is early evidence supporting such interventions as vestibular therapies, manual

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therapy, therapeutic exercise, and progressive aerobic training leading to growing recognition that physical therapy may facilitate recovery in patients with PCS.8,9,28,145,146,372,373 At this time, specific evidence-based guidelines regarding physical therapy strategies for treating PCS are not currently available. Future research is needed to further develop an evidence base that can provide strong conclusions in these regards. TABLE 15.7 Return to Activity Program Rehabilitation Stage No activity Light aerobic exercise Sport-specific exercise Noncontact training drills Full-contact practice

Functional Exercise at Each Stage of Rehabilitation Complete physical and cognitive rest Walking, swimming, or stationary cycling keeping intensity < 70% MPHR. No resistance training Skating drills in ice hockey, running drills in soccer. No head impact activities Progression to more complex training drills (e.g., passing drills in football and ice hockey). May start progressive resistance training Following medical clearance, participate in normal training activities

Objective of Each Stage Recovery Increase HR Add movement Exercise, coordination, cognitive load Restore confidence, assessment of functional skills by coaching staff

Return to play Normal game play

HR, heart rate; MPHR,. (From McCrory P, et al.: Consensus statement on concussion in sport: the 3rd International Conference on Concussion in Sports Held in Zurich, November 2008. J Athl Train 44(4):434-448, 2009.)

Cervical Injuries The incidence of central nervous system injury in children is low, varying from 1% to 5% of sports-related injuries, but these cases constitute 50% to 100% of the deaths from injury. Cervical spine injuries result in 30% to 50% of cases of childhood quadriplegia.61 The rate of spinal cord injuries in children younger than age 11 years is low, but it escalates dramatically in the 15- to 18-year-old age bracket. The largest percentage of traumatic spinal cord injury in children ages 10–14 years old was due to sports injury,86 with as many cervical spine injuries occurring in sports as seen in motor vehicle accidents in children between 8 and 15 years old.235 Because

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the brain and spinal cord are largely incapable of regeneration, these injuries take on a singular importance.72 Participation in several sports carries a particularly high risk for head and neck injuries. Sports-related injuries account for 14% of all head trauma cases seen in pediatric emergency departments in the United States.155 American football accounts for a large percentage of all concussion injuries in school sports, with as many as 9.6% of all injuries in football being diagnosed as concussions.115 Although 69% of deaths between 1945 and 1999 were from brain injuries, the incidence of serious head injuries has decreased since the late 1980s.73 Severe spinal injuries may result in paralysis and total disability. A population-based study over 7 years identified 32 children younger than 15 years of age who sustained spinal fracture, dislocation, or severe ligamentous injury; sports were the cause of all injuries in children over the age of 10 years.130 Rugby, a popular collision sport outside the United States, has head and neck injury rates similar to those of American football. Wrestling has the second highest injury rate of all high school sports, although the central nervous system injury rate is low. The rate of catastrophic wrestling injuries (cervical ligament injury, spinal cord contusion, severe head injury, or herniated disk) is 2.11 per year (1 per 100,000 participants) as a result of direct blows or falls.52 Football, soccer, and basketball account for a large number of concussions secondary to collision, although exact incidence figures have not been reported. Diving accounts for 3% to 21% of all cervical spine injuries in young people.49 Noguchi303 noted that swimming and gymnastics accounted for 51% and 22.8%, respectively, of all spinal injuries in persons younger than 30 years of age. Most neck injuries are caused by hyperflexion or hyperextension. Hyperflexion injuries, which are the most common, result from spearing (Fig. 15.3). Because of the undeveloped musculature in young athletes relative to adults and the commonly associated fracture, hyperflexion injury can be serious. Hyperextension injuries often occur even in the absence of severe force because the anterior neck musculature is weaker than the posterior musculature. Common causes are face or head tackling (Fig. 15.4). Hyperextension injury with a rotatory component is the most

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common cause of nerve root damage.48,394 Evaluation of these injuries should always include radiographs of the cervical spine. In the adolescent the second cervical vertebra is normally displaced posteriorly over the third secondary to hypermobility. This pseudosubluxation is normal and not the result of injury72 but should be referred for assessment.

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FIG. 15.3 Hyperflexion damage from head butting.

([A]

From Birrer R, Brecher D: Common sports injuries in youngsters. Oradell, NJ, Medical Economics, 1987. [B] From Black JM, Hawks JH: Medical-surgical nursing, ed 8, St. Louis, 2009, Saunders.)

Another common injury is a “stinger” or “burner,” which is a traction injury to the brachial plexus. It is caused by a forceful blow to the head from the side creating lateral deviation of the head or from depression of the shoulder while the head and neck are fixed. Repeated injuries may cause weakness of the deltoid, biceps, and teres major muscles, which should be resolved with strengthening exercises. The use of a collar, a change in technique, and cervical/scapulothoracic strengthening are appropriate interventions to help resolve symptoms. If symptoms persist or if repeated injuries occur, restriction in ability to return to play is warranted.93 Return to play in a collision or contact sport following any type of cervical injury should be closely monitored.74,93

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FIG. 15.4 Hyperextension injury from face blocking

([A]

From Birrer R, Brecher D: Common sports injuries in youngsters. Oradell, NJ, Medical Economics, 1987. [B] From Black JM, Hawks JH: Medical-surgical nursing, ed 8, St. Louis, Saunders, 2009.)

Thoracic and Lumbar Spinal Injuries Back injuries in children are different from those in adults and require careful evaluation.219,420 Spinal injuries can occur in both the thoracic and the lumbar areas, although thoracic injuries are rare. Costovertebral injury secondary to compression of the rib cage may occur in sports such as football or from a forceful takedown in wrestling. Complaints include pain and muscle spasm along the associated rib with potential complaints of pain with thoracic rotation. Axial compression forces on a preflexed spine, as in sledding or tobogganing, can fracture the vertebrae, particularly at the vulnerable T12–L1 level. These injuries can cause pain but at times are asymptomatic.48,394 The most common injuries in the lumbar spine are spondylolysis and spondylolisthesis. One study of 3132 competitive athletes ages 15 to 27 years noted an incidence of spondylolysis of 12.5%.360 Repeated and excessive hyperextension in football blocking, clean and jerk lift, diving, pole vaulting, wrestling, high jump, or gymnastic maneuvers can place excessive forces on the pars interarticularis and cause a stress fracture. Spondylolisthesis is described as a fracture and slippage of one vertebra on another, usually L5 over S1 or L4 over L5. Loading of a bilateral spondylolysis, in which there is a defect in the bony connection of the posterior arch with the vertebral body, can cause a spondylolisthesis, as can traumatic or repetitive bilateral loading of a normal spine. The slippage is graded from 1 to 4, depending on the degree of slippage. Athletes with grade 2 or greater slippage should be counseled against participation in activities requiring excessive lumbar extension such as weight lifting, baseball, diving, gymnastics, or wrestling. Participation in basketball or football is permissible with use of a brace.107,113,219,273 The growth spurt in the spine causes lumbar lordosis secondary to the enhanced anterior growth with posterior tethering by the heavy lumbodorsal fascia.

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This biomechanical situation increases the tendency of posterior element failure at the pars.278 Athletes with spondylolysis are managed in a brace or, at minimum, with restricted activity until healing occurs. Physical therapy is indicated to maintain flexibility in the lumbosacral spine and the spinal and hip musculature and to improve trunk and abdominal muscle strength and core stability while braced. Surgery is indicated only in cases of unstable lesions or nerve root compression.48,142,310 The incidence of disk lesions in young athletes is unknown, but several studies have demonstrated that disk herniation can occur, with 95% of these cases occurring at L4/L5 or L5/S1. Although acute trauma may precede the diagnosis of disc herniation, degenerative changes of the vertebral bodies and intervertebral joints may be the contributing factors, with trauma being the acute precipitating incident.139 Conservative management of this condition is often successful in the pediatric and adolescent population; however, if symptoms persist, surgical management may be necessary.139

Shoulder Injuries Specific shoulder injuries can be predicted based on the biomechanics of the sport and the age of the athlete.190,215 Participation in football, wrestling, and ice hockey may increase the likelihood of upper extremity fractures, subluxations, and dislocations. Sports with repeated overhead activities, such as volleyball, swimming, gymnastics, and baseball, are more likely to result in overuse injuries.1,26,336 The hyperelasticity of juvenile joints, particularly the shoulder, makes them vulnerable to passive and dynamic instability patterns that can predispose the shoulder to injury.190,323 The presence of disease processes or pathology that potentially increase this hyperelasticity, such as Ehlers-Danlos syndrome, can exacerbate this presentation. Acromioclavicular (AC) sprains may occur in the immature athlete without clavicular fracture; however, it is more common in skeletally mature athletes. The most common mechanism is direct force from a fall or blow to the lateral aspect of the shoulder or a fall on an outstretched arm.48,142,215,275 Grade I and II sprains are more common in the athlete whose skeleton is immature. Grade III

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sprains commonly rupture the dorsal clavicular periosteum, but the acromioclavicular and coracoclavicular ligaments remain intact.215,323 There is some controversy regarding optimal management of AC joint separations. These lesions are often treated symptomatically with rest, ice, compression, and elevation (RICE) in a sling. Some cases may require surgical stabilization if conservative management fails.55 Exercises are often necessary to increase scapulothoracic and glenohumeral mobility and strength after the sprain is healed. Fractures are most common in the middle third of the clavicle from a direct blow. These can be actual fractures in the older child or greenstick fractures in the youngster. They are managed with a figure-of-eight strap or sling stabilization until healed. The proximal humerus is an area of bone growth in children and is typically not as strong as the surrounding capsule and ligamentous structures. Therefore fractures are more common in children than in adults, who are more prone to dislocation. Epiphyseal displacements occur in the younger child, and metaphyseal fractures are more common in the older child or adolescent.275 Once bony healing is identified, therapeutic intervention to normalize mobility and strength of the scapular, shoulder, and elbow muscles is frequently indicated.323 Little League shoulder, a relatively common injury in young pitchers and catchers, involves an injury of the proximal humeral growth plate secondary to rotatory torque. A skeletally immature athlete who complains of proximal shoulder pain in the absence of trauma should be suspected of having an epiphyseal injury until proved otherwise. The athlete should limit throwing and rotational activities until the pain subsides190,215,323; however, strengthening of the parascapular and core musculature is indicated to facilitate a smoother transition back to sports once the pain has subsided. Frank anterior subluxation and dislocation of the glenohumeral joint are rare in children but common in adolescents. Because of the laxity of juvenile joints, a blow or forceful maneuver in abduction, external rotation, or extension can dislodge the head of the humerus.48,142,323 This condition is common in contact sports, gymnastics, and overhead throwing sports. Patients with posterior glenohumeral instability respond better to conservative

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strengthening of appropriate musculature than those with anterior instability, although a program of scapular and shoulder muscle strengthening in a biomechanically correct range of motion should be attempted. Motion should be limited to ranges that prevent chronic subluxation. Surgery is more often an option with anterior or multidirectional instability but may occur in the case of posterior instability.215,323 Debate exists in the literature regarding the most appropriate timing of arthroscopic stabilization following first-time shoulder dislocations in adolescent athletes.108,221 Future research will need to identify if immediate surgical stabilization is indicated after first-time dislocation or if a trial of conservative management would be successful in some athletes. Rotator cuff tears are not as common in the skeletally immature athlete as in the older athlete. They occur in throwing and racquet sports, as well as from direct contact blows in collision sports. These tears can be treated successfully with arthroscopic surgery and rehabilitation that includes strength and endurance training for all scapular and shoulder muscles, as well as training with correct biomechanical movements of the shoulder complex.215 Rotator cuff impingement syndrome (Fig. 15.5) is a frequent injury in athletes younger than 25 years of age. More than 50% of swimmers aged 12 to 18 years complain of shoulder pain.48,142 Unlike adults who typically present with impingement resulting from a mechanical compression in the subacromial space (primary impingement), children often present with impingement symptoms caused by excessive laxity or mobility in the shoulder joint complex described as secondary impingement. This may be due to a laxity of the static stabilizers in the shoulder with an inability of the dynamic shoulder stabilizers to compensate appropriately. Others theorize altered arthrokinematics of the shoulder may be due to a contracture around the shoulder with loss of internal rotation at 90° of abduction and with increased external rotation in all positions of abduction. This might reflect a tightened posterior and a loosened anterior capsule, suggesting a tendency to translate anteriorly during functional movement patterns. Conservative physical therapy with a focus on improved strength and muscle activation of the dynamic shoulder-stabilizing musculature, along with normalization of mobility and dynamic movement patterns, has

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been successful in addressing the underlying instability.215,275,323 All positions of impingement (anterior, lateral, or overhead) should be modified until the athlete is pain-free.

FIG. 15.5 Common causes of impingement.

(By permission

Elbow Injuries Supracondylar fracture of the humerus is the second most common fracture in the skeletally immature client. Most of these fractures occur in the age group of 5 to 10 years. They are often the result of falling on an outstretched arm with significant forces into extension. Avulsion fractures of the medial epicondyle are also common in the population and are associated with elbow dislocations or throwing injuries. Anatomic reduction is indicated with internal fixation, when appropriate. Loss of motion is a common impairment following these injuries; therefore early protected range of motion to avoid loss of extension is critical.152,215 Subsequent to healing, normalization of mobility and strength of the shoulder, elbow, and

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forearm are necessary for full function. Repetitive microtrauma from pitching may result in epiphyseal injury of the radial head. Loss of extension and supination with a history of repetitive compressive loading of the radiocapitellar joint may indicate this injury. A radial head pathology is treated with rest.101,190 Forceful distraction of the arm of a child younger than 7 years old can subluxate the radial head because of the poor development of the annular ligament, often referred to as “nursemaid’s elbow.”418 Children who have sustained this injury often position the injured arm in flexion and pronation, dangling it at the side of the body.48,142,215,394 Elbow dislocation is seen in contact sports secondary to a fall on an abducted, extended arm. Early reduction will avoid neurovascular damage, and further evaluation and radiographs are necessary to assess the presence of associated fracture. Early protected mobility is necessary to preserve normal elbow motion.48,142,215 Physical therapy to normalize elbow and forearm mobility and to improve strength at the elbow, forearm, and hand is appropriate. Little League elbow commonly results from the extreme valgus stress placed on the epicondyles during the acceleration phase of pitching (Fig. 15.6). If this is not recognized and regular throwing continues, mild separation of the medial epicondyle with hypertrophy, irregularity, fragmentation, and avulsion can occur. The most serious damage occurs with the compressive loads experienced in the lateral joint between the radial head and the capitellum. This injury may occur in as many as 8% to 10% of young pitchers. This compressive mechanism can result in osteochondritis of the capitellum, avascular necrosis of the radial head, and loose bodies within the joint. Treatment is RICE and rest from throwing with an ultimate progression to rehabilitation to focus on restoration of full mobility and strength through the upper extremity.48,142,152,310 Eventual alteration of throwing mechanics may be necessary. Lateral epicondylitis, or tennis elbow, is seen in a variety of racquet sports as a result of repeated injury to the lateral epicondyle. Repetitive microtrauma to the wrist extensors, as often seen with faulty backhand strokes in tennis, can initiate the process.

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The resulting tensile overload in the wrist extensors as well as friction between the extensor muscles, the lateral epicondyle, and the radial head causes irritation, microtears in the extensor muscle origin, and adhesions between the annular ligament and the joint capsule. Using tightly strung racquets, racquets with small handles, and old tennis balls can aggravate the situation. Rehabilitation to decrease acute inflammation and chronic irritation, reduce adhesions, and strengthen the forearm and hand musculature is required. Alteration of technique and equipment, such as enlargement of the racquet grip area or reduction of string tension, is helpful.142,152,190

Wrist and Hand Injuries The hand and wrist joint is an inherently complex anatomic structure. As a result, potentially serious injuries may be missed or underdiagnosed. Careful diagnosis using knowledge of anatomy, biomechanics, and pathomechanics of the wrist and hand is crucial.48,152,215,394 Fractures about the wrist follow an age-related pattern. In the young child a torus, or buckle fracture, of the distal radial epiphysis is common after a fall. Clinical signs include varying degrees of pain and tenderness, so careful radiologic examination is necessary. Simple splinting is adequate for healing.48,215,310 Metaphyseal fractures of the distal radius and ulna are more common in the child. Often displaced, they require reduction with the use of anesthesia. In the younger adolescent, fractures through the growth plate are common, again from falls, and require operative reduction to minimize trauma to the growth plate.215 Rehabilitation to regain normal forearm and wrist mobility as well as wrist and grip strength is desirable. Posttraumatic arthritis of the wrist and hand has been documented in active children. Management requires careful monitoring with nonoperative techniques to permit extensive remodeling, although occasionally surgery is necessary.326 Stress injuries to the distal radial epiphysis, triangular fibrocartilage complex (TFCC) tears, as well as ligamentous injury in the carpal region have been noted in athletes such as gymnasts who bear weight on their hands. Complaints of wrist stiffness and pain with

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wrist dorsiflexion are common. Radiographs may demonstrate a widened epiphysis, cystic changes, and breaking of the distal metaphysis with distal radius injury. Carpal ligament and TFCC injuries often require MRI to confirm the diagnosis. Management of these conditions often consists of modification or avoidance of gymnastics with or without casting.215 Rehabilitation and, at times, surgical management may be required. Although fracture of most carpal bones is rare, fracture of the navicular or scaphoid bone is common in children from 12 to 15 years of age. This fracture results from a fall on the dorsiflexed hand of an outstretched arm. Although the fracture may not be initially visible on a radiograph, early diagnosis is important because of the high incidence of avascular necrosis and nonunion. If tenderness in the anatomic snuffbox occurs with a high degree of suspicion of fracture, use of a short-arm spica cast is the typical initial management.48,142,153,394 Surgical management may be necessary in the cases of nonunion. Because the hand and fingers are so essential in most sports, they absorb tremendous forces with sports participation, resulting in frequent injuries.48,310,394 Dislocations are uncommon in the child’s hand because as the child’s developing bony anatomy is often more vulnerable than the ligamentous structure at this age. If dislocations do occur, it is usually in the older adolescent who is approaching skeletal maturity and in patterns similar to those in an adult. Thus the most common dislocation occurs at the carpometacarpal joint of the thumb, usually secondary to axial compression forces on the thumb tip in contact sports. Although reduction is easy, chronic instability can result. The thumb is put in a short-arm thumb spica, and participation in sports should be avoided for 6 weeks. Splint stabilization is advisable for the initial 6 weeks of reentry to play.215

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FIG. 15.6 Little Leaguer’s elbow. Avulsion fracture of

medial epicondyle (1), compression fractures of the radial head (2), and capitellum (3). (Left, Redrawn from Connolly JF: DePalma’s management of fractures and dislocations, Philadelphia, Saunders, 1981. Right, from iStock.com.)

Dorsal dislocation of the thumb metacarpophalangeal joint is the most common dislocation in the hand of a child. A fall or forceful contact hyperextends the metacarpophalangeal joint. If the proximal phalanx is parallel to the metacarpal, the volar plate has been avulsed and surgical reduction is necessary. Cast immobilization for 3 weeks with sports participation permitted is adequate for healing. Physical therapy may be indicated to normalize thumb mobility and strength following casting. Metacarpophalangeal dislocations in the fingers are rare except for those that affect the index finger. After this injury is reduced, splinting in flexion for 3 weeks with immediate mobilization after splint removal is the treatment of choice.48,142,394 Joint injuries are common in ball sports and skiing. The metacarpophalangeal joint of the thumb is the most commonly injured joint in skiers. The majority of these injuries in youth are bony gamekeeper’s thumb in which the ulnar collateral ligament avulses a segment of bone, as compared with the purely ligamentous injury in adults. If the bony fragment lies close to its origin, good results are obtained with use of a short-arm thumb

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spica cast for 6 weeks, followed by exercises to normalize mobility and strength. Athletic participation may continue in some cases and can be facilitated by the use of a custom-molded splint to protect the healing tissues. If the radiograph is negative, integrity of the ulnar collateral ligament must be established by assessing radial deviation in extension and 30° of flexion. Deviation of greater than 30° indicates at least a partial tear. No firm end point in full extension or greater than 45° of deviation in flexion indicates full ligamentous tear with volar plate injury, which will require surgical repair.48,215,394 Hand therapy is necessary to regain normal mobility, strength, and pinch. “Jammed” fingers are common injuries in all age groups. Axial compression force to the fingertips causes distal interphalangeal flexion with proximal interphalangeal hyperextension. Reduction is easily accomplished by distal traction. Buddy taping will allow the athlete to return to play.79,394 Caution should be exhibited, however, because fractures through the growth plate of the phalanx are common. These intra-articular, or neck, fractures have a great tendency to displace and then require open reduction with internal fixation.275 In the absence of a fracture or dislocation, damage to the collateral ligaments can occur and is managed in similar fashion. Jamming at the distal interphalangeal joint can result in “mallet finger,” or tearing of the terminal extensor tendon with or without a bony fragment. This injury is initially managed with use of a dorsal extension splint for 6 to 8 weeks. If active and passive extension ranges are equal at 6 weeks, active flexion can be initiated. If not, splinting is continued for another month. Participation may be permitted if a splint is in place.48,142,215,394

Pelvis and Hip Injuries Pelvis and hip injuries account for 10% to 24% of injuries in the pediatric athlete, with high incidence in ballet, running, soccer, football, and hockey.56 Because the hip and pelvis have complex ossification patterns and fuse late in childhood, the potential for injury is high. The acetabulum has three sections joined by triradiate cartilage. Likewise, three ossification centers exist on the femoral head: the capital femoral epiphysis, the greater trochanter,

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and the lesser trochanter. The circular vascularity of the femoral head and neck also creates risk for injury in the growing child.318,376,422 Hip pain in the pediatric population is typically caused by skeletal (dislocation, avulsion, fracture), soft tissue, nontraumatic (slipped capital femoral epiphysis, Legg-CalvéPerthes disease, developmental dysplasia) or neoplastic etiologies.318,376,422 Traumatic hip dislocations in children are most commonly posterior,376 with clinical presentation of a limb that is flexed, adducted, and internally rotated. Prompt reduction of the dislocation is key to minimize risk of avascular necrosis.376 Fractures are uncommon but can occur in the epiphyseal plate, the femoral neck, or the subtrochanteric area. Fractures of the neck or subtrochanteric area can be the result of severe trauma, usually incurred during contact sports such as football and rugby. Often surgical reduction is required to obtain adequate reduction and promote proper healing.376 Slipped capital femoral epiphysis (SCFE) is not caused by sports but must be suspected in any athlete with persistent hip or knee pain and a limp. SCFE typically occurs during the period of rapid growth in adolescence in either obese or very thin males, but it can occur in females as well. Surgical reduction with internal fixation is necessary (see Chapter 14). The most common type of fracture in this region in the young athlete is an avulsion fracture. Avulsion fractures of the apophysis occur in 14% to 40% of athletes in sports37,376 as a result of forceful contraction or excessive stretch of the muscle originating about the involved apophysis. The most common sites are the anteriorsuperior iliac spine (origin of the sartorius), the ischium (hamstring origin) (Fig. 15.7), the lesser trochanter (insertion of the iliopsoas), the anterior-inferior iliac spine (rectus femoris origin), and the iliac crest (abdominal insertion).284 These injuries are classic in sprinting, jumping, soccer, football, and weight lifting. A majority of these injuries are managed nonoperatively with rest and activity modification, reducing tension in the involved area, followed by gradual increase of excursion to full mobility, progressive resistance exercise, and return to activity.48,376 One less traumatic overuse parallel of avulsion is iliac apophysitis, which usually affects adolescent track, field, or cross-country athletes or dancers.

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Repeated contraction of the tensor fasciae latae, rectus femoris, sartorius, gluteus medius, and oblique abdominal muscles causes nonspecific pain and tenderness over the iliac crest. Rest helps this problem,48,142 but often exercises to increase strength and normalize two-joint muscle flexibility are required. Stress fractures and osteitis pubis are being diagnosed more frequently as a result of repetitive microtrauma in runners or athletes who have suddenly increased their involvement in jumping or kicking activities. Persistent pain and tenderness in the groin with limited mobility and activity-related increases in pain could signal either of these conditions. Radiographs showing inflammation, demineralization, and sclerosis confirm the diagnosis of osteitis pubis, but a bone scan is necessary to diagnose a stress fracture. Stress fractures have been seen in the pelvis at the junction of the ischium and pubic ramus and in the femoral neck and shaft.48 Relative rest, use of crutches, and restriction from percussive activities (running and jumping) are required for resolution of these disorders. Snapping hip syndrome is an overuse problem noted in gymnasts, dancers, sprinters, and sports with a rotational component. The term snapping hip syndrome can refer either to irritation of the iliotibial band over the greater trochanter with hip motion or to tenosynovitis of the iliopsoas tendon near its femoral insertion. Usually, relative rest or activity modification, use of appropriate modalities, stretching, and improved muscle strength overcome these symptoms, with surgical intervention considered with failed conservative management.191,275

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FIG. 15.7 Avulsion of the ischial tuberosity.

(Left, from Birrer

R, Brecher D: Common sports injuries in youngsters. Oradell, NJ, Medical Economics Books, 1987. Right, from iStock.com.)

A serious condition seen in the young athlete age 5 to 12 years is avascular necrosis of the femoral head. Activity can irritate the synovium, leading to joint effusion and reduction of the blood supply to the femoral head. The initial complaint is nonspecific hip pain, but radiographs demonstrate periosteal rarefaction followed by sclerosis and irregular collapse of the femoral head. Bracing or surgery may be required, depending on the degree of progression of the problem142 (see Chapter 14). Contusions are common, but the most frequent is the hip pointer. This iliac crest contusion, occurring typically in football or hockey, is caused by a driving blow by a helmet. The overlying muscle is damaged with a resultant subperiosteal hematoma. RICE and padding will resolve this problem with time.142 Occasionally, use of ultrasound and soft tissue mobilization with stretching may be necessary.

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Knee Injuries As the largest joint in the body and one with minimal anatomic protection, the knee is the focal point of stress forces applied along the tibia and femur. The knee is the second most commonly injured body site in young individuals, and sports-related knee injuries are among the most economically costly sports injuries, commonly requiring surgical intervention and/or rehabilitation.111,127,193,345,397 However, these data are likely an underestimation of the prevalence of knee injuries in the young population because overuse injuries account for as many as one half to one third of sports-related injury248,335 and are often not registered in hospital or sport-specific settings.200 Fractures about the knee, although not frequent, are significant for their possible influences on growth.401,434 Overall, physeal fractures account for 30% of fractures in children less than 16 years old,256 with distal femoral fractures accounting for 1% to 6% of all physeal fractures.100,156,256 Acute fractures of the tibial tubercle are also relatively uncommon, with a reported incidence of 0.4% to 2.7%.31,53,83,84,172,286,311 The mechanism of injury for fractures of the distal femoral physis is high-energy trauma, but older children and adolescents may sustain this type of fracture during lower-energy trauma, often sports related.119 A fracture line that traverses through the physis and runs obliquely through the metaphysis (Saltar-Harris Type II119) is common during sports participation resulting from a valgus force producing medial physeal separation and is often concomitant with medial collateral ligament sprains.119,246,276 In the proximal tibia, acute avulsion fractures are the most common occurring during athletic activity involving jumping or landing, either by a forceful quadriceps contraction against a fixed foot or by a forceful knee flexion against a tightly contracting quadriceps muscle.138,237 There is a strong predominance of males with this injury.119,138 Management of fractures in the distal femur or proximal tibia is dictated by the fracture type and displacement. Particular attention is given to restoration of joint alignment to minimize risk of growth disturbance.119,138 Nondisplaced fractures can be managed with immobilization and protected weight bearing. Displaced and/or unstable fractures may be managed with either closed or open reduction, including percutaneous pin fixation,

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transphyseal pins, or internal fixation.119,138 Displaced tibial tubercle fractures are typically managed with open reduction internal fixation to facilitate anatomic reduction and appropriate alignment and length of the extensor mechanism.119,138 Rehabilitation will vary with regard to medical management and addresses primary and secondary impairments associated with the injury and management strategy, likely focusing on joint mobility/range of motion, muscle strengthening and activation, pain and effusion management, and functional movement progression. Ligament injuries are becoming more common in the young athlete, with one study reporting medial collateral ligament injury in children as young as 4 years of age.282 All ligament injuries should be assessed for coincident physis fractures. Medial collateral ligament tears in youth can include both the superficial and the capsular components of the ligament. Nonoperative treatment with splinting and avoidance of valgus stress has been successful in adolescents, so it may be possible to obtain equally good results in younger children.142 Physical therapy to improve lower extremity strength and functional movement retraining is often indicated. The incidence of ACL midsubstance tears in children has increased dramatically. The mechanism of injury is either noncontact, occurring during movements that involve deceleration or change of direction that results in valgus loading in combination with some anterior tibial shear.181,197 This mechanism of injury may result in either an avulsion fracture at the tibial insertion or midsubstance tears of the ligament.5,20 The fracture of the tibial spine usually occurs through the cancellous bone, demonstrating avulsion of the tibial spine on a radiograph. Diagnosis of midsubstance tears is done through clinical examination and MRI. Management of midsubstance ACL injuries relies on nonsurgical management or surgical reconstruction. Physical therapy is the focus of nonsurgical management, with an emphasis on acute injury management, strengthening and neuromuscular training, and functional progression for return to desired activity. In cases with recurrent instability, traditional reconstructive procedures are avoided in the adolescent under the age of 15 years because of fear of injury to the growth plate with the proximal tibial drill hole.168,216 Instead, a modified ACL reconstruction will be performed to

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respect the still-open physes of the skeletally immature child, including partial transphyseal, physeal-sparing, and all epiphysealsparing techniques. These surgical procedures are utilized to provide mechanical stability to the knee and reduce the risk of secondary injury to the surrounding articular cartilage and meniscus during physical activity.213 Postsurgical rehabilitation with a focus on joint projection, strengthening and neuromuscular development, and functional and return-to-play phases is key to optimize outcomes. Juvenile osteochondritis dissecans is a focal lesion or injury of the subchondral bone region, with the risk of instability and disruption of the adjacent articular cartilage. The most common location is on the posterolateral aspect of the medial femoral condyle, where 70% of lesions occur.163,214 There is increased incidence and prevalence in youth involved in sports activities, with boys being more affected than girls (5:3 ratio) and 25% of cases being bilateral with asymmetric lesion location.188,214 The etiology of juvenile osteochondritis dissecans is still an enigma. Compression of the tibial spine against the medial femoral condyle, interruption of the vascularity, genetic predisposition, chronic inflammatory response, anatomic variations in the knee, and abnormal subchondral bone are all possible causes. The condition usually causes pain, recurrent swelling, and possibly catching in the knee. Pain is generally poorly localized and is exacerbated with activity. Physical examination may reveal tenderness over the anteromedial aspect of the knee with varying degrees of knee flexion. Because these lesions have a poor prognosis after skeletal maturity, every attempt should be made to gain healing before growth plate closure. In the child younger than 15 years of age, diminished activity to the point of not bearing weight is suggested. Drilling of the condyles with removal of fragments is recommended in children older than 15 years of age.67 This procedure usually necessitates restriction of running, jumping, and other physical activity for a period of time, with concomitant intensive rehabilitation to regain strength, balance, and agility in the lower extremity.142,370 The challenge of meniscal injuries in the young athlete is accurate diagnosis.287 Meniscus injuries are often concomitant with other acute knee injuries,19,368 such as anterior cruciate ligament tears,

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chondral injuries, and tibial fractures. The preponderance of literature supports a management strategy that preserves as much of the meniscus as possible.407 Rehabilitation management focuses on restoration of joint motion, strength, neuromuscular control, and endurance of the involved limb. If indicated, surgical management (repair versus debride) is dictated by tear location, chronicity of the tear, patient age, and other patient-specific factors. Postsurgical rehabilitation works to restore joint motion, strength, neuromuscular control, and endurance of the involved limb. Discoid lateral meniscus is a common abnormal meniscal variant in children.224 Discoid lateral meniscus can create joint line tenderness, decreased joint mobility, effusion, and, most notably, a prominent snap in the lateral compartment as the knee is extended.224 The complete type of discoid meniscus, producing symptoms in late adolescence, is distinguished by intact peripheral attachments. Good results are obtained with saucerization of the meniscus. The Wrisberg type of discoid meniscus, which is more common in the pediatric group, has an attachment only through the ligament of Wrisberg and can be resolved by cutting the ligament and removing the portions with no peripheral attachments.224,304 Among the most common knee conditions in children are disorders involving the patella and patellofemoral joint.41 Macrotrauma, repetitive microtrauma, and growth all can contribute to the disorders of the patellofemoral joint. Patellofemoral pain is the most frequent problem in the young athlete, with adolescent females being 2 to 10 times more likely than males to have patellofemoral pain.51,124,143,144,356 Overuse of the extensor mechanism or extensor mechanism is a major cause of patellofemoral pain. Several other anatomic and biomechanical factors can increase stress in the patellofemoral joint and lead to pain (Fig. 15.8). Malalignment of the patellofemoral joint is the major cause of this pain. Several factors can cause or contribute to this malalignment. Anatomic factors such as patella alta, large Q angle, hip anteversion, flattened lateral femoral condyle, shallow femoral groove, or pes planus and hyperpronation can cause abnormal tracking of the patella during knee motion.328 The malalignment of the patella in relation to the femoral groove can be the result of a more laterally positioned patella or a more internally rotated femur.340 Biomechanical factors

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related to muscle strength (e.g., weak hip musculature) or altered movement strategies (e.g., dynamic knee valgus) can contribute to increased patellofemoral stress.291,328 Nonoperative management is the standard of care for patellofemoral pain. Medical management may include nonsteroidal anti-inflammatory medications and bracing. A meta-analysis of randomized studies of physical therapy treatment in individuals with patellofemoral pain showed a positive effect for exercise on pain reduction,175 with successful rehabilitation programs incorporating active stretching, lower extremity strengthening, balance, proprioception, and neuromuscular control activities with an emphasis on trunk, hip, and thigh musculature.175 Lateral patellar instability and subluxation/dislocation are common in young athletes, with an incidence of 107 per 100,000 in those 9 to 15 years old.400 Injury occurs either by direct contact with the medial aspect of the knee, or indirect, noncontact mechanisms that relate to biomechanics and/or anatomic factors that result in a tendency for patellar lateralization. Sport-related movements, such as cutting or pivoting, that result in dynamic knee valgus place high strain on medial patellar restraints and are associated with lateral subluxation/dislocation.400 Other factors such as pes planus or subtalar joint pronation are also thought to contribute to altered knee loading and to instability.400 Other contributing factors include anatomic factors that reduce contact of the patella with the groove (e.g., trochlear dysplasia, patella alta, increased patellar tilt) and/or lateralize the pull of the quadriceps (e.g., increased quadriceps angle, high tibial tuberosity to trochlear groove).109,400 The risk of recurrent instability is high, with studies reporting a 60% redislocation/subluxation rate for 11- to 14-year-olds and a 33% rate for 15- to 18-year-olds.302,400 After primary dislocation, nonoperative management is considered, but early surgical intervention with a medial patellofemoral reconstruction procedure may also be considered, particularly if anatomic variations exist.412 A medial patellofemoral reconstruction is often considered in those with recurrent instability. Rehabilitation management following acute dislocation focuses on pain/effusion management and activities that progress range of motion, strength, and neuromuscular control. Postoperative management will be dictated by the procedure

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performed but will include joint protection and pain/effusion management, as well as progressive range of motion, strengthening, and neuromuscular control activities.

FIG. 15.8 Tension resulting from growth. Pain may occur at the patella (A), lower pole of the patella (B), or patellar tendon insertion on the tibia (C). (Redrawn from Micheli L: Overuse injuries in children’s sports: the growth factor. Orthop Clin North Am 14(2):337-360, 1983.)

Apophysitis, or irritation and inflammation of the secondary ossification centers where tendons attach, is common in the knee at the tibial tuberosity (Osgood-Schlatter disease) and inferior pole of the patella (Sinding-Larsen-Johansson syndrome) where localized pain and tenderness are clinical features of these conditions.

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Osgood-Schlatter disease (see Chapter 14) typically presents in boys age 12 to 15 years and girls age 8 to 12 years, is more common in boys than girls,151,223,421 and is most often seen in sports involving repetitive running and/or jumping where there is a strong pull of the quadriceps muscles106,151,380 (see Chapter 14). Sinding-LarsenJohansson typically presents in adolescents between 10 to 14 years old but most often in males who participate in sports.198 Relative rest, activity modification, ice/nonsteroidal anti-inflammatory medications, improving flexibility of surrounding muscles (particularly the quadriceps and rectus femoris muscles), and maintenance of quadriceps muscle strength or progressive quadriceps strengthening with pain-free exercise are treatment options.48,389

Ankle and Foot Injuries As a result of their growing skeleton, children may suffer from foot and ankle problems not often seen in adults.260 Injuries to the distal tibial and fibular growth plates are common in the young athlete. Gregg and Das161 have classified growth plate injuries into a clinically useful system (Fig. 15.9). The most common fractures to the ankle in the skeletally immature athlete are the Salter-Harris I and II injuries to the distal fibula. Although these fractures can occur with adduction and abduction injury to the distal tibia, they frequently occur alone as a result of inversion injury. The Ottawa rules for prediction of need for radiograph to rule out fracture have been validated in children.239 The Ottawa rules state that an ankle series is indicated only for patients with pain in the malleolar zone and any of the following findings: (1) bone tenderness at the posterior edge of either the medial or lateral malleolus or (2) inability to bear weight immediately after injury and in the emergency room. The rules further state that a foot series is required only with midfoot pain and any of the following findings: (1) bone tenderness at the base of the fifth metatarsal, (2) bone tenderness at the navicular, or (3) inability to bear weight immediately and in the emergency room. Treatment with immobilization in a short leg cast for 2 to 6 weeks is suggested.202 Physical therapy after casting to increase ankle and foot mobility

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and strength and to improve balance may be indicated. Increasing incidence of osteochondral defects of the talar dome may necessitate a review of surgical options for treatment of this condition.403

FIG. 15.9 Modified Salter-Harris classification of

growth plate injuries: 1, Disruption entirely confined to the growth plate; distraction or slip injury. 2, Fracture line runs partially through the growth plate then extends through the metaphysis. 3, Fracture line runs partially through the growth plate then extends through the epiphysis. 4, Combined disruption of metaphysis, growth plate, and epiphysis. 5, Crush or compression injury of growth plate. 6, Abrasion, avulsion, or burn of the perichondrial ring of the growth plate. (From Marchiori D: Clinical imaging: with skeletal, chest, & abdominal pattern differentials, ed 3, St. Louis, Mosby, 2014.)

Type II injury of the distal tibia is a result of a variety of mechanisms, including supination and external rotation, supination and plantar flexion, and ankle pronation and eversion, to name a few. Common in football and soccer players, this injury is frequently associated with greenstick fracture of the distal fibula. Care must be taken to reduce these fractures and immobilize them in a long leg cast with knee flexion to prevent impaction of the tibial metaphysis into the growth plate. The results of this type of fracture are unpredictable; occasionally angulation or premature closure of the plate occurs.142 The most common mechanism of injury in type III and IV fractures of the medial malleolus is ankle supination or inversion. Adduction injuries appear in approximately 15% of these injuries and are characterized by medial displacement of part or all

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of the distal tibial epiphysis. The affected children are usually young, so the incidence of growth disturbance is higher. Internal fixation with restoration of ankle joint congruity is critical.236 Because of the porosity of the bones of the foot in a child, stress fractures are common in the metatarsals in all jumping and distance-running activities. If suspected by local tenderness that is aggravated with activity, these injuries should be immobilized for 3 weeks. After immobilization, one can progressively and slowly increase activities to former levels over 3 more weeks.142 Several types of ischemia can occur in the bones of the child’s foot. Freiberg infarction, or avascular necrosis of the metatarsal epiphysis, occurs in those who walk or perform on their toes. Initial synovitis is followed by sclerosis, resorption, plate fracture and collapse, and bone reformation. It does not affect children younger than 12 years of age. Most commonly affected is the second metatarsal head. Treatment consists of cessation of toe-walking, wearing high-heeled shoes, and jumping. A negative-heel shoe is fitted. Kohler disease is seen in active boys age 3 to 7 years who have a tendency to cavus feet (see Chapter 14). Focal tenderness and swelling around the navicular bone are noted clinically. The radiograph reveals sclerosis and irregular rarefaction indicative of ischemia. Conservative treatment calls for use of a walking cast for 6 to 8 weeks followed by use of an arch support and limitation of activity for another 6 weeks.282 Although ankle sprains can occur in the young athlete, epiphyseal fractures are more common. Sprains occur in the older adolescent near the end of skeletal maturity. The common cause of injury is landing on the lateral border of a plantarflexed foot (Fig. 15.10). Management is similar to that in adults. Surgery is indicated only in multiple sprains with gross instability limiting function or causing pain. Sever disease, or apophysitis of the calcaneus, is comparable to Osgood-Schlatter syndrome in the knee (Fig. 15.11). It is seen most frequently in basketball and soccer players with complaint of heel pain on running. The usual age of occurrence is 8 to 13 years. Frequently, tight heel cords, a tendency toward in-toeing, and forefoot varus are noted. Treatment consists of heel cord stretching and initial use of a heel lift in well-constructed shoes (see Chapter

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14).142

FIG. 15.10 Plantar flexion-inversion injury.

(Left, from

Manske RC: Fundamental orthopedic management for the physical therapist assistant, ed 4, St. Louis, Elsevier, 2016. Right, from iStock.com.)

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FIG. 15.11 Insertion of Sharpey’s fibers from the

Achilles tendon into the calcaneal apophysis. (From www.epainassist.com.)

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Foreground Information Rehabilitation and Return to Play In adults, rehabilitation following common sports injuries and subsequent medical treatment (i.e., ACL injury and reconstruction) is described in the literature. Commonly, rehabilitation guidelines that are accepted practice in adults are often applied to children and adolescents. However, rehabilitation in a child or adolescent requires age-appropriate modifications, specifically related to relevant anatomy, surgical procedures/modifications performed (if applicable), protection and preservation of future bone growth, as well as the unique psychosocial aspects of the pediatric or adolescent patient. Children and adolescents require supervised rehabilitation programs that begin with first aid on the field of play. The goal of first aid is to contain the extent of injury and reduce any possibility of further harm. Following, or in conjunction with medical management of the injury, the long-term goal of rehabilitation is return to play in a safe manner with minimal risk of further injury. In healthy individuals, studies indicate that comprehensive training programs utilizing components of strength, balance, and core stability training, as well as biomechanical technique and plyometric training, induce changes in movement mechanics that are associated with reducing injury risk.178,180,292 Similar principles are utilized when establishing a rehabilitation program for individuals following injury. Following injury, successful rehabilitation that advances toward unrestricted activity and sport participation requires a comprehensive, progressive, and criterionbased plan of physical therapy care. A comprehensive rehabilitation program and individualized plan of care maximize outcomes. The physical therapy plan of care will vary based on the individual’s unique characteristics and attributes within the context of his or her injury and relevant anatomy (e.g., open versus closed epiphyseal “growth” plates). Physical characteristics such as anatomic alignment, skeletal age, body mass, severity of impairments, and injury history are considered in

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rehabilitation planning.348,426 Also considered are psychosocial attributes such as motivation, maturity level, patient/family goals, kinesthetic awareness, and demonstration of fear avoidance or kinesiophobic movement patterns. The young athlete’s specific goals, as well as the magnitude of his or her impairments and functional limitations, will guide the specific interventions and pace of rehabilitation progression. For the young athlete, communication among the health care providers, as well as with the patient, family, coaches, and other involved personnel, will ensure effective collaboration with the recommended plan of care. Given the limited information available regarding injuries in young individuals, the rehabilitation specialist plays a large role in the education of the patient, patient’s family, and the teaching and coaching staff involved with the young athlete. Successful physical therapy management requires adherence to a systematic and criterion-based progression of interventions and considerations for the unique psychosocial and anatomic aspects of a young patient. This approach to rehabilitation will protect injured tissues, promote healing, maximize outcomes, and ultimately preserve long-term tissue and joint integrity.348,426 A rehabilitation program that is developed and advanced based on criterion-based decision making, rather than time-based decision making, is advocated to ensure adequate tissue healing and adequate accommodation of the injured tissues to the forces associated with activity.348,426 A thorough history and clinical examination are important to establish accurate differential diagnosis and to develop an individual plan of care based on severity of impairments and functional limitations.

Acute and Intermediate Phases of Rehabilitation Protecting the injured tissue or joint during the early phases of healing is important for successful outcome. Adherence to necessary activity modifications may be a challenge for young, active patients. Patient and family education are important for effective cooperation with the plan of care. Resolution of impairments and progression toward functional activities are the goals of these phases of rehabilitation. Each patient’s specific goals, as well as the magnitude of their impairments and functional

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limitations, will guide the specific interventions and pace of rehabilitation progression.

Advanced Stages of Rehabilitation The long-term goal of rehabilitation is a safe transition and reintegration into sport following injury. The objective of the return-to-activity phase of rehabilitation is successful transition from advanced rehabilitation to safe participation in sports with minimal risk of injury. Criterion-based progression through the advanced stages of rehabilitation depends on achievement of clinical milestones, with consideration of the participation demands for the activity and position for which the individual desires to return (e.g., the amount of cutting/pivoting, amount of overhead throwing, amount of contact, and level of activity [elite versus recreational]). Advanced stages of rehabilitation should realize resolution of pain, effusion, range of motion, and joint-loading or weight-bearing restrictions. During the advanced stages of rehabilitation, the young athlete should be progressed through a functional program (based on activity- and position-specific demands) that optimizes strength and muscle performance in terms of intensity, frequency, and duration of activity.293 Functional activities that progress neuromuscular control, including plyometric and technique training, should also be implemented.293

Return to Activity Determination of timing for return to desired sports activities following injury should be based on objective measures during a comprehensive functional evaluation.225,293 Patient reintegration into sport and activities is considered when there is demonstration of adequate tissue healing, resolution of impairments (such as pain, effusion, range of motion), adequate muscle strength and performance, and acceptable levels of functional performance necessary for the demands of the desired activity. Muscle strength should be objectively measured (via dynamometry), and the recommended criterion for return to activity is involved muscle strength that is 85% to 90% of the contralateral muscle.203,225,285,306,358 Patient-reported outcome tools and performance-based functional assessments are also utilized in physical therapy clinical

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decision making.132 A number of region-specific patient-reported outcome measures are valid and reliable measures of function during activities of daily living, recreational activities, and sport activities, although most measures were developed based on adult patient populations. A recent study371 demonstrated the internal consistency and validity of the International Knee Documentation Committee (IKDC) Subjective Knee Evaluation Form in young individuals, ages 6 to 18 years. Measures of general health assessment, such as the Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL),410,411 are valid, responsive, and reliable measures of health-related quality of life in children and adolescents (age 2 to 18 years). In addition to patient-reported measures of function, performance-based assessments are often used to determine readiness for return to sport and activity. Physical performance is often evaluated via jumping, hopping, or cutting tasks, depending on the demands of the activity of which the patient desires to return. Single-limb hop tests (such as the single hop, triple hop, crossover hop, and 6-meter timed hop305) are often used because of their convenience and reliability.54,347 Recommended criteria for return to sport are performance of involved limb that is at least 85% to 90% of the uninvolved limb.225 Additional performance measures may also be useful. Performance on the Star Excursion Balance Test has been associated with risk of lower extremity injury,209,334 and a composite reach distance of > 94 is recommended to reduce injury risk.209,334 Altered movement patterns and neuromuscular control have been associated with increased risk of injuries,179 and movement and technique assessment during high-level activities are important for safe return to activity. The drop vertical jump task has been used repeatedly as an assessment tool of lower extremity biomechanics during a plyometric task.120,136,179,294,313,317 The tuck jump exercise has been advocated as another clinician-friendly and reliable tool to identify lower extremity landing technique faults during a plyometric activity.290,293 For young athletes participating in overhead sports such as baseball, softball, and volleyball, a progressive return to overhead activity or throwing program is warranted following resolution of identified impairments and limitations. For overhead and throwing

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athletes, analyzing appropriate technique and addressing identified deviations are important to prevent further injury.361,427 During the advanced and return-to-sport stages of rehabilitation, adherence to a progressive return to throwing or overhead activity program22,427 will maximize performance and mitigate risk of further injury. The clinical decision making for reintegration into sport activities utilizes a comprehensive and criterion-based approach that includes assessment of impairments as well as functional performance Box 15-2. A rehabilitation plan that culminates with a progressive reintegration of the young individual into the desired activity is advocated. A progressive approach toward unrestricted activity participation may be initiated with modification of activity participation, such as time of participation and demands of participation. Appropriate communication among the health care team and with the patient, family, and other involved persons (e.g., coaches) is important during the advanced stages of rehabilitation to ensure collaboration with the progressive plan of care.

B O X 1 5 . 2 Textbox

for Intervention

Body Functions and Structures • Static and dynamic stretching • Open and closed kinetic chain strengthening • Gait retraining • Neuromuscular reeducation

Activities and Participation • Functional return to activity progression

Other (e.g., Environment, QoL when applicable) • Environmental integration to activity specific tasks QoL, quality of life.

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The Young Athlete with A Physical Disability The number of children with disabilities in the United States has continued to rise, with the greatest population living in lower socioeconomic status environments.187 Children with disabilities benefit from physical activity similarly to their able-bodied or typically developing peers. Yet individuals with disabilities are less physically active and display higher risk for ailments associated with inactivity.2,6,34,50,226,300,428 Children with intellectual impairments, especially those of low socioeconomic status, exhibit obesity rates among the highest in the nation.2,134,300,355 Despite increasing rates of participation in Paralympics and Special Olympics, individuals with disabilities still have limitations in accessing school and community resources.2,21,34 According to a systematic review by Bloemen et al. in 2015, both positive and negative factors involving physical ability, sporting modification, and opinions toward wellness influence individuals’ participation in physical activities (Table 15.8).50,57,59,87,98,199,281,369,385 Many of these factors are similar to those affecting typically developing peers, yet medical impairments complicate normal requirements such as transportation and create a fear of trying a new activity. Health care providers are encouraged to promote healthy behaviors with patients, including strength, cardiovascular, and injury prevention training. Through collaboration with recreational therapists, occupational therapists, coaches, teachers, parents, and community advocates, therapists can best advocate for patients to safely participate in fitness, sports, and recreational training. Both psychological and physiologic benefits of sports participation have been demonstrated in individuals with disabilities. Athletes with and without disabilities report improved social acceptance and enjoyment of participation in physical activities.208 Fitness programs assist with cardiovascular fitness, mobility throughout the aging process, bone health, and muscle strength, and they decrease the risk of ailments of inactivity such as hypertension, fatigue, and difficulty performing daily

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activities.114,355,357,414,425 Self-concept and self-acceptance were shown to be equal or greater in athletes as compared to nonathletes with disabilities.174,363 According to a systematic review by Sahlin et al. in 2015, confidence, identity, competence, self-worth, life satisfaction, and community integration all increase through sports and recreational activities for individuals with neurologic pathologies.363 Consistent with a systematic review performed in 2014, exercise can also help individuals with intellectual disabilities limit challenging behaviors associated with their cognitive impairments.312 A variety of sports and recreational experiences promote social interactions, cognitive function, self-esteem, and skill acquisition through experience in the sport or recreational activity.45,374 TABLE 15.8 Personal, Environmental, and Other Factors Influencing the Physical Activity for People with a Disability

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Adapted from Bloemen MA, Backx FJ, Takken T, et al: Factors associated with physical activity in children and adolescents with a physical disability: a systematic review. Dev Med Child Neurol 57(2):137-148, 2015.

Between 11% and 61% of individuals with a lower extremity amputation participate in physical activity and/or sports.58 The same pathologic process that caused the amputation may limit some individuals’ ability to participate in activities after the amputation.58 Yet improvements in strength, rehabilitation progressions, quality of life, aerobic and anaerobic fitness, as well as the body mass of individuals are all achieved through physical activity in individuals with amputations.58 Once individuals start to participate in sport or recreational activity, there are improvements in the number of social contacts, their knowledge of sporting equipment, and motor skills, as well as a sense of acceptance of their disability.58 Among children with limb deficiencies, athletic competence was one predictor of higher perceived physical appearance, lower levels of depression, and higher self-esteem.363,409 Individuals with Down syndrome are at a higher risk for inactivity, cardiac muscle atrophy, and obesity than those without disabilities or other diagnoses with intellectual impairments.159,330,417 In a case series by Alesi et al., children with Down syndrome improved in both motor and intellectual scores after a 2-month training program that included cardiovascular warm-up, basic motor training, cognitive training games, and a breathing cool down.7 Adolescents with Down syndrome displayed improved strength and agility after completing a 6-week fitness routine 3 days

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per week.240 Therefore physical activity, cardiovascular fitness, strengthening, and motor training in a social environment are recommended for individuals with Down syndrome.159,240 Disability often causes a reduction of overall fitness relative to the general population.129,162,333,346,354 According to Buffart et al., aerobic fitness in adolescents and young adults with spina bifida was 42% lower than in typically developing age-matched peers, with 39% of the participants with spina bifida classified as inactive and another 37% as extremely inactive.63 Marques et al. attribute this lack of physical activity to feelings of a lack of competence in physical activity.259 Similarly, individuals with cerebral palsy displayed an increased tendency toward sedentary behaviors, with lower bone density compared to typically developing individuals. The largest disparities are found in those with the greatest physical impairments and in those with a tendency toward sedentary behavior as they get older.6,251

Adaptive Sports Legislative actions such as the United States of Public Law 94-142, the Rehabilitation Act of 1973, the Americans with Disabilities Act in 1991, and the National Park Service Director’s Order #42 in 2000 have provided individuals with disabilities improved access to educational and community resources.94,118,325,379 In 2013 the Department of Education issued a clarification regarding the Americans with Disabilities Act: that is, students must not only be provided equal access to educational opportunities but also to extracurricular activities.353 This has increased the opportunities for individuals with disabilities to participate in sports and recreational activities and has advanced the possibilities for individuals with disabilities to obtain college scholarships and compete as NCAA athletes.299 Aside from the NCAA and local recreational opportunities, Special Olympics and Paralympics offer individuals with disabilities global recognition of their accomplishments through sports and recreational activities. Since the first Special Olympics world games in 1968, the number of competitors has more than doubled on the global stage. Special Olympics’ mission is to

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provide year-round sports training and competitions for individuals with disabilities. Qualifications for Special Olympics include verification of a medical diagnosis of intellectual impairment. Athletes compete based on their skill sets for specific sporting activities. Some teams are unified, with individuals with and without disabilities competing on the same team. Paralympics, meaning parallel to the Olympics, began after World War II, with the first world games in 1948. Since that time, Paralympics has assessed individuals through classification processes of the individual’s medical impairment in order to provide fair play. Originally, this was based on the medical diagnosis, but more recently it is based on an assessment of motion, strength, and coordination required for the specific sporting activity. Most United States Paralympic sports are managed through the same Olympic governing body as the Olympics. Sports and recreational activities can be adapted either by the rules of the game or the equipment permitted in play. For example, runners with visual impairments are provided a guide runner to assist the athlete in safely completing the course. Size of the competition area, number of athletes, and additional personnel such as a sign language interpreter are other examples of modifications made to allow individuals to compete in the sport safely. Besides addressing strength, motion, and mobility impairments associated with physical disabilities, therapists can assist children and adults in appropriate adaptations to the physical activity in order to allow the individual to participate. Examples of such adaptations include providing a bicycle handlebar modification to allow an individual with a limb deficiency ample control of the bike, seen in Fig. 15.12A.30 Paralympic adaptations are very specific and must be cleared with an official before use. Examples of this include a track and field throwing chair pictured in Fig. 15.12B, which may or may not have a seat back or hand pole depending on the thrower’s needs.140,141,431 An important differentiation for therapists to note is between a handcycle, seen in Fig. 15.12C, which can only be used in cycling events, and a racing chair, pictured in Fig. 15.12D, which is appropriate only for running events. The biggest difference between these two chairs is that the handcycle has gears for the athlete to shift, allowing the athlete to

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have an easier push up and down hills, while the racing chair does not provide athletes this luxury. Although Special Olympics and Paralympics offer individuals with physical and intellectual impairments opportunities to participate in sports and recreational activities, the incidence of obesity has continued to rise at a greater rate in individuals with disabilities than their peers without disabilities.134,355 Education provided on the importance of physical activity and other health promotion interventions should be encouraged. This can include nutrition and promoting increased movement in more typical sedentary behaviors such as playing video games, cooking, and socializing through technological activities.134,355,425 Fitness groups, off-season conditioning, cross training, active social gatherings, and wellness programs would benefit individuals with disabilities and assist in promoting activity.

Risk of Injury The epidemiology of injuries of athletes with disabilities not only depends on the sport or activity the athlete is performing but also on the underlying pathology of the athlete’s long-term impairment.121,423 Generally speaking, wheelchair competitors have more upper extremity injuries, specifically injuries to the shoulder and spine, while ambulatory competitors have a higher incidence of lower extremity injuries, specifically injuries to the knee.121,128,423 A systematic review by Webborn et al. in 2014 found that 5-a-side football had the greatest rate of injury at 22.4 injuries/1000 athletedays and shooting had the least at 2.2 injuries/1000 athlete-days in summer Paralympic sports.423 Skiing and sledge hockey had the greatest incidence of injury in winter Paralympic sports.121,423 Ramirez et al. investigated injury rates of high school athletes with medical impairments including autism, emotional disturbances, and seizure disorders participating in basketball, softball, soccer, and field hockey.344 They found the rate of injury in this population was 2.0 injuries/1000 athletic exposures, with abrasions and contusions accounting for over half of the injuries. The highest injury rate in this population was while playing soccer, recorded at 3.7/1000 athletic exposures.344

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For athletes who compete in wheelchairs, shoulder pain may not only limit the individual in sport but also in mobility and activities of daily living.99,121 In a survey of female wheelchair basketball players, over 90% of the 46 athletes reported experiencing shoulder pain since beginning wheelchair use, with 52% expressing current shoulder pain.99 Nonambulatory athletes and individuals who do not regularly participate in physical activity are at high risk for low bone mineral density and fractures, which should be evaluated in the event of collision- or fall-related injuries.80 Head and neck injuries are of significant concern of contact wheelchair sports.176,423 Out of 263 wheelchair basketball players, 6.1% reported sustaining a concussion in a single season, which is higher than the concussion rate in nondisabled basketball players. Most of those who did sustain a concussion did not report it, with female players sustaining concussions much more frequently than males.424

FIG. 15.12 Examples of appropriate adaptations to

physical activities in order to allow individual participation. (A) Bicycle handlebar adaptation. (B) Track and field throwing chair. (C) Handcycle (for cycling events). (D) Racing chair (for track and field, road races). ([A] From Baker SA, Calhoun, VD: A custom bicycle handlebar

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adaptation for children with below elbow amputations. J Hand Ther 27(3):258-260, 2014. [B] From Chung C, Lin JT, Toro ML, et al.: Making assistive technology and rehabilitation engineering a sure bet/Uniform throwing chair for seated throwing sporting events. RESNA Annual Conference, June 26–30, 2010, Las Vegas, NV. Copyright © 2010 RESNA, Arlington, VA. [C–D] Courtesy Invacare Top End Wheelchair, Elyria, OH.)

Individuals with higher-level spinal cord injuries are at increased risk for heat intolerance. In cool conditions or at rest, trained individuals dissipate heat similarly to nondisabled trained athletes. However, due to the lack of thermoregulation and ability to dissipate heat through sweat below the level of injury, individuals with spinal cord injuries are at increased risk of heat-related injury.341,354 It is recommended to keep athletes cool and shaded prior to competition and to provide ample cooling through cool misting stations, ice bags, or ice vests to limit heat illnesses.220 For athletes with spinal cord injuries at or above the sixth thoracic vertebra (T6), a life-threatening condition called autonomic dysreflexia should be monitored.47,149,220 Autonomic dysreflexia arises when a noxious stimulus is not sensed due to a lack of sensation, and the sympathetic nervous system responds by increasing blood pressure and heart rate. It has been associated with increased performance, so is sometimes done as a method of performance enhancement, termed “boosting.”149 Boosting is performed before an event as a method of raising the blood pressure of the athlete to dangerous levels, placing the athlete at risk of stroke, heart attack, or even death. It is treated in Paralympic competitions as a doping method. Screenings before the events are performed at times to detect boosting, with a positive doping test noted when the systolic blood pressure is at or above 180 mm Hg.47 Overuse injuries such as tendinitis and muscle strains are common in athletes with disabilities and can be avoided through training modifications and conditioning.23,121 The mechanism of the overuse is highly variable depending on the specific activity. For example, when comparing populations with reports of shoulder pain, scapular positioning and function may vary greatly in wheelchair basketball, amputee soccer, and disabled table tennis athletes.15 Amputee soccer players competing on crutches had the best scapular positioning and function, likely due to differences in

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muscular demands and positioning of the shoulder.23 Core stability, including scapular stabilizers and hip musculature, should be evaluated in combination with joint positioning and the athletic demands of the participant’s sport.

Preparticipation Examination and Classification Prior to initiating a physical activity program, all athletes should be screened by a physician for a medial release form in order to rule out neurologic, systemic, visual, auditory, or cardiovascular pathologies that would make it dangerous to participate in certain sports.110 In order to qualify for Special Olympics, individuals must be at least 8 years of age and diagnosed with an intellectual impairment. Athletes are divided into teams or categories based on gender, age, and ability level.192 In comparison, Paralympics classifies based on neurologic, visual, intellectual, or physical impairments with medical and technical classifiers evaluating the athlete’s ability to participate in each sport. Minimal disability criteria qualify athletes to participate in Paralympics.405 Prior to participation, specific diagnoses may require additional screening. For individuals with Down syndrome, Special Olympics requires cervical radiographs to screen for atlantoaxial instability or other cervical spine instabilities prior to participation in certain sports, such as diving, high jump, equestrian, artistic gymnastics, football (soccer), power lifting, snowboarding, judo, skiing, and pentathlon.192 The most recent recommendations from the American Academy of Pediatrics do not include routine radiographic screenings if a child is asymptomatic, unless it is required for specific Special Olympic sporting activities.64 If a child becomes symptomatic, he or she is immediately referred to a pediatric neurosurgeon or pediatric orthopedic surgeon who has expertise in atlantoaxial instability to evaluate if a fusion is necessary.64 Because individuals with Down syndrome often exhibit muscular hypotonia and joint hypermobility with poor stabilization, joint integrity should be evaluated for safety in positioning and participation in the sporting activity, including orthotics as needed.3,70,247

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For individuals who compete with prosthetics, terminal overgrowth, bone spurs, socket fit, skin integrity, and abnormal sensations should be assessed in those with congenital limb deficiencies or acquired amputations.62,238 Socket fit is critical for injury prevention for those competing with a prosthetic, especially when the prosthetic extends around bony prominences.238 Socket modifications may be warranted as an individual prepares for increased physical activity.238 Athletes competing in a wheelchair should be screened for shoulder muscle imbalances in order to limit the risk of shoulder pathology through sports and recreational activities.66,283 Similarly, athletes with a spinal cord injury should be assessed for motion, strength, and sensation to provide appropriate mobility and safety throughout participation in the sport.71 For individuals with arthrogryposis or limited joint range of motion, joint integrity should be assessed prior to competition in sport.44 Sport-specific form should be assessed in both gross motor and fine motor movements of the sport with focus on limiting compensations. Equipment should be assessed for safety, size, fit, appropriate function for the athlete, and adherence to sporting rules and regulations.140,141,408 Each athlete’s needs are unique, so equipment that is adjustable is preferred over equipment that is fixed while an athlete is growing or learning a new skill.

Training Programs When evaluating performance enhancement, a comprehensive assessment of strength, motion, nutritional analysis, body composition, and exercise capacity may best provide for the athlete. Testing should be impairment and sport specific with arm crank, wheelchair, or single-leg ergometry assessments provided as appropriate.46,116,320 Medical personnel in health facilities have traditionally provided fitness programs for individuals with disabilities.425 However, people with disabilities benefit from sport-specific training, wellness, or conditioning programs just as do those without disabilities.137 There are significant benefits to transitioning to more community-based fitness opportunities such as recreational sports,

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fitness clubs, or workout facilities including the promotion of selfefficacy in a sustainable workout routine.425 It is recommended that fitness programs not only address mobility impairments but also promote healthy eating habits, strength training, cardiovascular fitness, and the individual’s community engagement.2,34,137,158 If organized sport and recreational training programs are not available, after-school fitness programs are also a way to improve the health and wellness of children with disabilities.173 Several studies have evaluated the efficacy of these training programs in various groups with disabilities. Agility, aerobic capacity, strength, self-competence, functional movement, and quality of life all improved with an 8-month training program for ambulatory individuals with cerebral palsy.413 Similarly, improvements in cardiovascular endurance and strength were found in a 10-week fitness program for children and adolescents with spina bifida.18 In a study done by Baran et al., individuals with intellectual disabilities were able to improve in both fitness and sport-specific skills with the use of an 8-week training schedule of individuals training 3 times per week in soccer skills.32 For youth with disabilities, task- or function-specific exercises that are fun and motivating yield greater results in functional outcomes.201,207 For older athletes, more traditional strength and conditioning tactics may yield greater gain. In a study of eight males with spinal cord injuries and eight male control subjects, both groups displayed similar improvements in strength and power with an 8-week heavy resistance training program, with improvements also noted in a 10meter sprint.404 Therefore as for able-bodied athletes who would not train the same for a 10-meter sprint or a 10,000-meter run, training programs should be individualized to the athlete’s specific goals and sporting needs. Biomechanical analyses of movement patterns are becoming more common in sports and recreational activities. Individuals with limb deficiencies have been specifically analyzed for running, swimming, and long jump. Runners and swimmers display decreased step length and stroke length on the involved side compared to the uninvolved side.58 This is not associated with increased injury at this time, while runners with transfemoral amputations with low back pain display impaired frontal and

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transverse pelvic and lumbar motion.374 Therefore not only are strength, power, anaerobic, aerobic, and sport-specific training appropriate, but biomechanical analysis of sport-specific movement patterns should also be evaluated with coaching provided as needed.

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Summary Young athletes are not small adults. They have unique issues in sports participation that must be specifically addressed. Recognition of these unusual qualities is necessary for effective prevention and management of sports-related injuries. Physical therapists should play a significant role in the total management of the child athlete. The broad-based and eclectic medical background of physical therapists makes them ideal professionals for the assessment and rehabilitation of sports injuries in athletes with full or altered physical capabilities. Depending on advanced experience or certification in sports physical therapy, athletic training, or exercise physiology, they may be the primary medical professionals to administer total management, from prevention to return to participation after injury. A physical therapist is an important part of the comprehensive medical team that manages sports-related injuries in young athletes. Physical therapists may work with certified athletic trainers or exercise physiologists to provide comprehensive sports safety management. The certified trainer is appropriately skilled to assist with preparticipation screenings and to provide onsite coverage of practices and games with immediate triage and injury management. The exercise physiologist plays an integral part in preseason screening and in conditioning and training programs. The physical therapist can provide assessment and total rehabilitation of sports injuries and aid in phasing the athlete back to play with appropriate progression, supportive devices, or medical limitations. The certified trainer or the exercise physiologist often works with the physical therapist in the return-to-play planning and follow-up. The goal of these programs is to promote the health and safety of the young athlete. All those involved should work in a manner appropriate to their education, skills, and practice statutes as members of a team, including coaches and parents, toward the goal of safe, rewarding, and successful participation in sport and recreation.

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Case Scenarios on Expert Consult Three case scenarios are presented: The post-concussion management of a 16-year-old elite swimmer. Management of a 10-year-old boy with osteochondritis dissecans at the knee. Postoperative management of anterior cruciate (ACL) reconstruction in a young female athlete. Video is also presented that addresses examination and includes both procedures and scoring protocols.

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References

1. Aagaard H, Jorgensen U. Injuries in elite volleyball. Scand J Med Sci Sports. 1996;6:228–232. 2. Abeysekara P, Turchi R, O’Neil M. Obesity and children with special healthcare needs: special considerations for a special population. Curr Opin Pediatr. 2014;26(4):508–515. 3. Abousamra O, Bayhan I.A, Rogers K.J, Miller F. Hip instability in Down syndrome: a focus on acetabular retroversion. J Pediatr Orthop. 2015 [epub ahead of print]. 4. Adirim T.A, Cheng T.L. Overview of injuries in the young athlete. Sports Med. 2003;33:75–81. 5. Aichroth P.M, Patel D.V, Zorrilla P. The natural history and treatment of rupture of the anterior cruciate ligament in children and adolescents: a prospective review. J Bone Joint Surg Br. 2002;84:38–41. 6. Al Wren T, Lee D.C, Kay R.M, Dorey F.J, Gilsanz V. Bone density and size in ambulatory children with cerebral palsy. Dev Med Child Neurol. 2011;53(2):137–141. 7. Alesi M, Battaglia G, Roccella M, Testa D, Palma A, Pepi A. Improveme of gross motor and cognitive abilities by an exercise training program: three case reports. Neuropsychiatr Dis Treat. 2014;10:479–485. 8. Alsalaheen B.A, Mucha A, Morris L.O, et al. Vestibular rehabilitation for dizziness and balance disorders after concussion. J Neurol Phys Ther. 2010;34(2):87–93. 9. Alsalaheen B.A, Whitney S.L, Mucha A, Morris L.O, Furman J.M, Sparto prescription patterns in patients treated with vestibular rehabilitation after concussion. Physiother Res Int. 2013;18(2):100–108. 10. American Academy of Family Physicians. American Academy of Pediatrics, American College of Sports Med, American Medical Society for Sports Medicine, American Orthopaedic Society for Sports Medicine, American Osteopathic Academy of Sports Medicine: PPE Preparticipation physical evaluation. ed

1221

4. Minneapolis, MN: McGraw-Hill; 2010. 11. American Academy of Pediatrics Committee on Sports Medicine and Fitness. Medical conditions affecting sports participation. Pediatrics. 2001;107:1205–1209 Available at URL:. http://aappolicy.aappublications.org/cgi/reprint/pediatrics 12. American Academy of Pediatrics. American Academy of Pediatrics. Organized athletics for preadolescent children. Pediatrics. 1989;84:583–584. 13. American Academy of Pediatrics. Climatic heat stress and the exercising child and adolescent. American Academy of Pediatrics. Committee on Sports Medicine and Fitness. Pediatrics. 2000;106:158–159. 14. American College of Sports Medicine: Inter-Association Task Force on exertional heat illnesses consensus statement. 2003. 15. American Medical Association. Ensuring the health of the adolescent athlete. Arch Fam Med. 1993;2:446–448. 16. American Medical Association. Medical evaluation of the athlete: a guide. Rev. ed. Chicago: American Medical Association; 1976. 17. Anderson S.J. Lower extremity injuries in youth sports. Pediatr Clin North Am. 2002;49:627–641. 18. Andrade C.K, Kramer J, Garber M, Longmuir P. Changes in self-concept, cardiovascular endurance and muscular strength of children with spina bifida aged 8 to 13 years in response to a 10-week physical-activity programme: a pilot study. Child Care Health Dev. 1991;17(3):183–196. 19. Andrish J.T. Meniscal injuries in children and adolescents: diagnosis and management. J Am Acad Orthop Surg. 1996;4(5):231–237. 20. Andrish J.T. Anterior cruciate ligament injuries in the skeletally immature patient. Am J Orthop. 2001;30:103–110. 21. Antle B.J, Mills W, Steele C, Kalnins I, Rossen B. An exploratory study of parents’ approaches to health promotion in families of adolescents with physical disabilities. Child Care Health Dev. 2008;34(2):185–193. 22. Axe M.J, SnyderMackler L, Konin J.G, Strube M.J. Development of a distance-based interval throwing program for Little

1222

League-aged athletes. Am J Sports Med. 1996;24(5):594–602. 23.

Aytar A, Zeybek A, Pekyavas N.O, Tigli A.A, Ergun N. Scapular resting position, shoulder pain and function in disabled athletes. Prosthet Orthot Int. 2014;39(5):390–396. 24. Bahrke M.S, Yesalis C.E, Brower K.J. Anabolic-androgenic steroid abuse and performance-enhancing drugs among adolescents. Child Adolesc Psychiatr Clin North Am. 1998;7:821–838. 25. Bailes J.E, Cantu R.C. Head injury in athletes. Neurosurgery. 2001;48:26–45. 26. Bak K. Nontraumatic glenohumeral instability and coracoacromial impingement in swimmers. Scand J Med Sci Sports. 1996;6(3):132–144. 27. Bak M.J, Doerr T.D. Craniomaxillofacial fractures during recreational baseball and softball. J Oral Maxillofac Surg. 2004;62:1209–1212. 28. Baker J.G, Freitas M.S, Leddy J.J, Kozlowski K.F, Willer B.S. Return to full functioning after graded exercise assessment and progressive exercise treatment of postconcussion syndrome. Rehabil Res Prac. 2012:1–7. 29. Baker J.S, Davies B. High intensity exercise assessment: relationships between laboratory and field measures of performance. J Sci Med Sport. 2002;5:341–347. 30. Baker S.A, Calhoun V.D. A custom bicycle handlebar adaptation for children with below elbow amputations. J Hand Ther. 2014;27(3):258–260. 31. Balmat P, Vichard P, Pem R. The treatment of avulsion fractures of the tibial tuberosity in adolescent athletes. Sports Med. 1990;9(5):311–316. 32. Baran F, Aktop A, Ozer D, Nalbant S, Aglamis E, Barak S, Hutzler Y. Th effects of a Special Olympics Unified Sports Soccer training program on anthropometry, physical fitness and skilled performance in Special Olympics soccer athletes and nondisabled partners. Res Dev Disabil. 2013;34(1):695–709. 33. Bar-Or O. Child and adolescent athlete. vol. 6. Malden,

1223

MA: Blackwell; 1995. 34. Barr M, Shields N. Identifying the barriers and facilitators to participation in physical activity for children with Down syndrome. J Intellect Disabil Res. 2011;55(11):1020–1033. 35. Baugh C.M, Stamm J.M, Riley D.O, et al. Chronic traumatic encephalopathy: neurodegeneration following repetitive concussive and subconcussive brain trauma. Brain Imaging Behav. 2012;6(2):244–254. 36. Bauman M. Nutritional requirements for athletes. In: Bernhardt D.B, ed. Sports physical therapy. New York: Churchill Livingstone; 1986:89–105. 37. Beaty J.H. Hip, pelvis and thigh. In: Sulliven J.A, Anderson T.E, eds. Care of the young athletes. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2000:3365–3376. 38. Bell D.G, McLellan T.M, Sabiston C.M. Effect of ingesting caffeine and ephedrine on performance. Med Sci Sports Exerc. 2002;34:1399–1403. 39. Benson B.W, Meeuwisse W. Ice hockey injuries. Med Sport Sci. 2005;49:86–119. 40. Benson L.S, Waters P.M, Meier S.W, Visotsky J.L, Williams C.S. Pediatri hand injuries due to home exercycles. J Pediatr Orthop. 2000;20:34–39. 41. Bergstrom K.A, Brandseth K, Fretheim S, Tvilde K, Ekeland A. Activity related knee injuries and pain in athletic adolescents. Knee Surg Sports Traumatol Arthrosc. 2001;9:146–150. 42. Bernhardt D.T, Gomez J, Johnson M.D, et al. Strength training by children and adolescents. Pediatrics. 2001;107:1470–1472. 43. Bernhardt D.T, Landry G.L. Sports injuries in young athletes. Adv Pediatr. 1995;42:465–500. 44. Bernstein R.M. Arthrogryposis and amyoplasia. J Am Acad Orthop Surg. 2002;10(6):417–424. 45. Best J.R. Effects of physical activity on children’s executive function: contributions of experimental research on aerobic exercise. Dev Rev. 2010;30(4):331–551.

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46. Bhambhani Y.N, Holland L.J, Steadward R.D. Anaerobic threshold in wheelchair athletes with cerebral palsy: validity and reliability. Arch Phys Med Rehabil. 1993;74:305– 311. 47. Bhambhani Y, Mactavish J, Warren S, et al. Boosting in athletes with high-level spinal cord injury: knowledge, incidence and attitudes of athletes in Paralympic sport. Disabil Rehabil. 2010;32(26):2172–2190. 48. Birrer R.B, Griesemer B.A, Cataletto M.B. Pediatric sports medicine for primary care. Philadelphia: Lippincott Williams Wilkins; 2002. 49. Blanksby B.A, Wearne F.K, Elliott B.C, Blitvich J.D. Aetiology and occurrence of diving injuries. A review of diving safety. Sports Med. 1997;23(4):228–246. 50. Bloemen M.A, Backx F.J, Takken T, Wittink H, Benner J, Mollema J, de Groot J.F. Factors associated with physical activity in children and adolescents with a physical disability: a systematic review. Dev Med Child Neurol. 2015;57(2):137– 148. 51. Blond L, Hansen L. Patellofemoral pain syndrome in athletes: a 5.7-year retrospective follow-up study of 250 athletes. Acta Orthop Belg. 1998;64(4):393–400. 52. Boden B.P, Lin W, Young M, Mueller F.O. Catastrophic injuries in wrestlers. Am J Sports Med. 2002;30:791–795. 53. Bolesta M.J, Fitch R.D. Tibial tubercle avulsions. J Pediatr Orthop. 1986;6(2):186–192. 54. Bolgla L.A, Keskula D.R. Reliability of lower extremity functional performance tests. J Orthop Sports Phys Ther. 1997;26(3):138–142. 55. Bontempo N.A, Mazzocca A.D. Biomechanics and treatment of acromioclavicular and sternoclavicular joint injuries. Br J Sports Med. 2010;44(5):361–369. 56. Boyd K, Peirce N, Batt M. Common hip injuries in sport. Sports Med. 1997;24(4):273–288. 57. Reference deleted in proofs. 58. Bragaru M, Dekker R, Geertzen J.H, Dijkstra P.U. Amputees

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and sports: a systematic review. Sports Med. 2011;41(9):721– 740. 59. Reference deleted in proofs. 60. Brown R.L, Koepplinger M.E, Mehlman C.T, Gittelman M, Garcia V.F. A terrain vehicle and bicycle crashes in children: epidemiology and comparison of injury severity. J Pediatr Surg. 2002;37:375–380. 61. Bruce D.A, Schut L, Sutton L.N. Brain and cervical spine injuries occurring during organized sports activities in children and adolescents. Clin Sports Med. 1982;1:495–514. 62. Bryant P.R, Pandian G. Acquired limb deficiencies. 1. Acquired limb deficiencies in children and young adults. Arch Phys Med Rehabil. 2001;82(3 Suppl 1):S3–8. 63. Buffart L.M, Roebroeck M.E, Rol M, Stam H.J, van den BergEmons R.J. Triad of physical activity, aerobic fitness and obesity in adolescents and young adults with myelomeningocele. J Rehabil Med. 2008;40(1):70–75. 64. Bull M.J. Committee on Genetics: health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393– 406. 65. Bunc V. A simple method for estimating aerobic fitness. Ergonomics. 1994;37:159–165. 66. Burnham R.S, May L, Nelson E, Steadward R, Reid D.C. Shoulder pain in wheelchair athletes. The role of muscle imbalance. Am J Sports Med. 1993;21(2):238–242. 67. Cain E.L, Clancy W.G. Treatment algorithm for osteochondral injuries of the knee. Clin Sports Med. 2001;20:321–342. 68. Caine D.J, DiFiori J, Maffulli N. Physeal injuries in children’s and youth sports. Reasons for concern? Br J Sports Med. 2006;40:749–760. 69. Caine D, Maffulli N, Caine C. Epidemiology of injury in child and adolescent sports: injury rates, risk factors and prevention. Clin Sports Med. 2008;27:19–50. 70. Caird M.S, Wills B.P, Dormans J.P. Down syndrome in children: the role of the orthopaedic surgeon. J Am Acad

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Orthop Surg. 2006;14(11):610–619. 71. Cancel D, Capoor J. Patient safety in the rehabilitation of children with spinal cord injuries, spina bifida, neuromuscular disorders, and amputations. Phys Med Rehabil Clin North Am. 2012;23(2):401–422. 72. Cantu R.C. Cervical spine injuries in the athlete. Sem Neurol. 2000;20:173–178. 73. Cantu R.C, Mueller F.O. Brain injury-related fatalities in American football, 1945-1999. Neurosurgery. 2003;52:846– 852. 74. Cantu R.C, Bailes J.E, Wilberger Jr. J.E. Guidelines for return to contact or collision sport after a cervical spine injury. Clin Sports Med. 1998;17:137–146. 75. Casa D.J, Armstrong L.E, Hillman S.K, et al. National Athletic Trainers’ Association position statement: fluid replacement for athletes. J Athl Train. 2000;35:212–224. 76. Cavanaugh J.T, Guskiewicz K.M, Stergiou N. A nonlinear dynamic approach for evaluating postural control: new directions for the management of sport-related cerebral concussion. Sports Med. 2005;35(11):935–950. 77. Cavanaugh J.T, Guskiewicz K.M, Giuliani C, Marshall S, Mercer V.S, Ste of postural control after cerebral concussion: new insights using approximate entropy. J Athl Train. 2006;41(3):305–313. 78. Cavanaugh J.T, Guskiewicz K.M, Giuliani C, Marshall S, Mercer V, Ster altered postural control after cerebral concussion in athletes with normal postural stability. Br J Sports Med. 2005;39(11):805–811. 79. Centers for Disease Control and Prevention. BMI for children and teens Available at: URL:. www.cdc.gov/nccdphp/dnpa/bmi/bmi-for-age.htm. 80. Chen C.L, Lin K.C, Wu C.Y, Ke J.Y, Wang C.J, Chen C.Y. Relationships of muscle strength and bone mineral density in ambulatory children with cerebral palsy. Osteoporos Int. 2012;23(2):715– 721. 81. Child SCAT3. Br J Sports Med. 2013;47(5):263.

1227

82. Choe M.C, Babikian T, DiFiori J, Hovda D.A, Giza C.C. A pediatric perspective on concussion pathophysiology. Curr Opin Pediatr. 2012;24(6):689–695. 83. Chow S.P, Lam J.J, Leong J.C. Fracture of the tibial tubercle in the adolescent. J Bone Joint Surg Br. 1990;72(2):231–234. 84. Christie M.J, Dvonch V.M. Tibial tuberosity avulsion fracture in adolescents. J Pediatr Orthop. 1981;1(4):391–394. 85. Chun J, Haney S, DiFiori J. The relative contributions of the history and physical examination in the preparticipation evaluation of collegiate student-athletes. Clin J Sport Med. 2006;16(5):437–438. 86. Cirak B, Ziegfeld S, Knight V.M, Chang D, Avellino A.M, Paidas C.N. S injuries in children. J Pediatr Surg. 2004;39(4):607–612. 87. Reference deleted in proofs. 88. Clark N. Nutrition: pre-, intra-, and postcompetition. In: Cantu R.C, Micheli L.J, eds. ACSM’s guidelines for the team physician. Philadelphia: Lea Febiger; 1991:58–65. 89. Clarkson P.M. Nutrition for improved sports performance. Current issues on ergogenic aids. Sports Med. 1996;21:393– 401. 90. Coady C.M, Micheli L.J. Stress fractures in the pediatric athlete. Clin Sports Med. 1997;16:225–238. 91. Colletti T.P. Sports preparticipation evaluation. Physician Assist. 2001;25(7):31–41. 92. Collins M.W, Lovell M.R, Iverson G.L, Cantu R.C, Maroon J.C, Field M. effects of concussion in high school athletes. Neurosurgery. 2002;51:1175–1179. 93. Concannon L.G, Harrast M.A, Herring S.A. Radiating upper limb pain in the contact sport athlete: an update on transient quadriparesis and stingers. Curr Sports Med Rep. 2012;11(1):28–34. 94. Congress. Public Law. 2015:94–142. 95. Conley K.M, Bolin D.J, Carek P.J, Konin J.G, Neal T.L, Violette D. Natio Athletic Trainers’ Association Position Statement:

1228

preparticipation physical examinations and disqualifying conditions. J Athl Train. 2014;49(1):102–120. 96. Conn J.M, Annest J.L, Gilchrist J. Sports and recreation related injury episodes in the US population, 1997-1999. Inj Prev. 2003;9:117–123. 97. Cooper K. Kid fitness. New York: Bantam Books; 1991. 98. Reference deleted in proofs. 99. Curtis K.A, Black K. Shoulder pain in female wheelchair basketball players. J Orthop Sports Phys Ther. 1999;29(4):225– 231. 100. Czitrom A.A, Salter R.B, Willis R.B. Fractures involving the distal epiphyseal plate of the femur. Int Orthop. 1981;4(4):269–277. 101. DaSilva M.F, Williams J.S, Fadale P.D, Hulstyn M.J, Ehrlich M.G. Pediat throwing injuries about the elbow. Am J Orthop. 1998;27:90– 96. 102. Day C, Stolz U, Mehan T.J, Smith G.A, McKenzie L.B. Divingrelated injuries in children 10 days) postconcussive symptoms? Br J Sports Med. 2013;47(5):308– 313. 253. Makdissi M, Davis G, Jordan B, Patricios J, Purcell L, Putukian M. Revis the modifiers: how should the evaluation and management of acute concussions differ in specific groups? Br J Sports Med. 2013;47(5):314–320. 254. Management of Concussion/m TBI. Working Group: VA/DoD clinical practice guideline for management of concussion/mild traumatic brain injury. J Rehabil Res Dev. 2009;46(6):CP1–68. 255. Mankovsky A.B, MendozaSagaon M, Cardinaux C, Hohlfeld J, Reinberg O. Evaluation of scooter-related injuries in children. J Pediatr Surg. 2002;37:755–759.

1242

256. Mann D.C, Rajmaira S. Distribution of physeal and nonphyseal fractures in 2,650 long-bone fractures in children aged 0-16 years. J Pediatr Orthop. 1990;10(6):713– 716. 257. Marar M, McIlvain N.M, Fields S.K, Comstock R.D. Epidemiology of concussions among United States high school athletes in 20 sports. Am J Sports Med. 2012;40(4):747–755. 258. Maron B.J, Thompson P.D, Puffer J.C, et al. Cardiovascular preparticipation screening of competitive athletes. A statement for health professionals from the Sudden Death Committee (clinical cardiology) and Congenital Cardiac Defects Committee (cardiovascular disease in the young), American Heart Association. Circulation. 1996;94(4):850–856. 259. Marques A, Maldonado I, Peralta M, Santos S. Exploring psychosocial correlates of physical activity among children and adolescents with spina bifida. Disabil Health J. 2015;8(1):123–129. 260. Marsh J.S, Daigneault J.P. Ankle injuries in the pediatric population. Curr Opin Pediatr. 2000;12:52–60. 261. Maughan R. The athlete’s diet: nutritional goals and dietary strategies. Proc Nutr Soc. 2002;61:87–96. 262. McArdle W.D, Katch F.I, Katch V.L. Exercise physiology: energy, nutrition, and human performance. Philadelphia: Lippincott, Williams Wilkins; 2001. 263. McCarroll J.R, Rettig A.C, Shelbourne K.D. Anterior cruciate ligament injuries in the young athlete with open physes. Am J Sports Med. 1988;16(1):44–47. 264. McCrea M, Kelly J, Randolph C, et al. Standardized assessment of concussion (SAC): on-site mental status evaluation of the athlete. J Head Trauma Rehabil. 1998;13(2):27–36. 265. McCrory P. Does second impact syndrome exist? Clin J Sport Med. 2001;11(3):144–149. 266. McCrory P, Davis G, Makdissi M. Second impact syndrome or cerebral swelling after sporting head injury. Curr Sports Med Rep. 2012;11(1):21–23.

1243

267.

McCrory P, Meeuwisse W.H, Kutcher J.S, Jordan B.D, Gardner A. What is the evidence for chronic concussion-related changes in retired athletes: behavioural, pathological and clinical outcomes? Br J Sports Med. 2013;47(5):327–330. 268. McCrory P, Meeuwisse W, Aubry M, et al. Consensus statement on concussion in sport-the 4th International Conference on Concussion in Sport Held in Zurich, November 2012. Clin J Sport Med. 2013;23(2):89–117. 269. McKeag D. Preseason physical examination for prevention of sports injuries. Sports Med. 1985;2:413–431. 270. McKeag D.B. Preparticipation screening of the potential athlete. Clin Sports Med. 1989;8(3):373–397. 271. McKee A.C, Cantu R.C, Nowinski C.J, et al. Chronic traumatic encephalopathy in athletes: progressive tauopathy after repetitive head injury. J Neuropathol Exp Neurol. 2009;68(7):709–735. 272. Reference deleted in proofs. 273. McTimoney C.A, Micheli L.J. Current evaluation and management of spondylolysis and spondylolisthesis. Curr Sports Med Rep. 2003;2:41–46. 274. Meehan 3rd. W.P, Mannix R. Pediatric concussions in United States emergency departments in the years 2002 to 2006. J Pediatr. 2010;157(6):889–893. 275. Micheli L.J. Sports injuries in children and adolescents. Questions and controversies. Clin Sports Med. 1995;14:727– 745. 276. Micheli L.J, Foster T.E. Acute knee injuries in the immature athlete. Instr Course Lect. 1993;42:473–481. 277. Micheli L.J, Nielson J.H. Overuse injuries in the young athlete: stress fractures. In: Hebestreit H, Bar-or O, eds. The young athlete. Boston: Blackwell; 2008:151–163. 278. Micheli L.J, Wood R. Back pain in young athletes. Significant differences from adults in causes and patterns. Arch Pediatr Adolsc Med. 1995;149:15–18. 279. Micheli L.J, Metzl J.D, Canzio J.D, Zurakowski D. Anterior cruciate ligament reconstructive surgery in adolescent soccer and basketball players. Clin J Sport

1244

Med. 1999;9(3):138–141. 280. Millar A.L. Ergogenic aids. In: Sanders B, ed. Sports physical therapy. Norwalk, CT: Appleton Lange; 1990:79–93. 281. Reference deleted in proofs. 282. Mitchell L.J, Jenkins M. Sports medicine bible for young athletes. Naperville, IL: Sourcebooks, Inc; 2001. 283. Miyahara M, Sleivert G.G, Gerrard D.F. The relationship of strength and muscle balance to shoulder pain and impingement syndrome in elite quadriplegic wheelchair rugby players. International Journal of Sports Med. 1998;19(3):210–214. 284. Moeller J.L. Pelvic and hip apophyseal avulsion injuries in young athletes. Curr Sports Med Rep. 2003;2:110–115. 285. Moller E, Forssblad M, Hansson L, et al. Bracing versus nonbracing in rehabilitation after anterior cruciate ligament reconstruction: a randomized prospective study with 2-year follow-up. Knee Surg Sports Traumotol Arthrosc. 2001;9(2):102–108. 286. Mosier S.M, Stanitski C.L. Acute tibial tubercle avulsion fractures. J Pediatr Orthop. 2004;24(2):181–184. 287. Moti A.W, Micheli L.J. Meniscal and articular cartilage injury in the skeletally immature knee. Instr Course Lect. 2003;52:683–690. 288. Mueller F.O, Kucera K, Cox L. National Center for Catastrophic Injury Research. 31th Annual Report Available at: URL:. www.nccsir.unc.edu/files/2015/02/NCCSIR-31stannual-all-sport-report-1982_2013.pdf. 289. Murphy N, Yanchar N.L. Yet more pediatric injuries associated with all-terrain vehicles: should kids be using them? J Trauma. 2004;56(6):1185–1190. 290. Myer G.D, Ford K.R, Hewett T.E. Tuck jump assessment for reducing anterior cruciate ligament risk. Athl Ther Today. 2008;13(5):39–44. 291. Myer G.D, Ford K.R, Barber Foss K.D, et al. The incidence and potential pathomechanics of patellofemoral pain in female athletes. Clin Biomechan (Bristol, Avon). 2010;25(7):700–707. 292.

1245

Myer G.D, Ford K.R, Palumbo J.P, Hewett T.E. Neuromuscular training improves performance and lower-extremity biomechanics in female athletes. J Strength Cond Res. 2005;19(1):51–60. 293.

Myer G.D, Paterno M.V, Ford K.R, Quatman C.E, Hewett T.E. Rehabilit after anterior cruciate ligament reconstruction: criteriabased progression through the return-to-sport phase. J Orthop Sports Phys Ther. 2006;36(6):385–402. 294. Myer G.D, Ford K.R, Brent J.L, Hewett T.E. Differential neuromuscular training effects on ACL injury risk factors in “high-risk” versus “low-risk” athletes. BMC Musculoskel Dis. 2007;8:39. 295. Nadler S.F, Malanga G.A, Feinberg J.H, Rubanni M, Moley R, Foye P. F performance deficits in athletes with previous lower extremity injury. Clin J Sport Med. 2002;12:73–78. 296. Nalliah R.P, Anderson I.M, Lee M.K, Rampa S, Allareddy V, Allareddy of hospital-based emergency department visits due to sports injuries. Pediatr Emerg Care. 2014;30(8):511–515. 297. Nathanson B.H, Ribeiro K, Henneman P.L. An analysis of US emergency department visits from falls from skiing, snowboarding, skateboarding, roller-skating, and using nonmotorized scooters. Clin Pediatr (Phila). 2016;55(8):738– 744. 298. National Safe Kids Campaign. Injury Facts Available at: URL:. www.safekids.org/. 299. NCAA. Boundless determination Available at: URL:. http://www.ncaa.org/champion/boundlessdetermination. 300. Neter J.E, Schokker D.F, de Jong E, Renders C.M, Seidell J.C, Visscher T.L. The prevalence of overweight and obesity and its determinants in children with and without disabilities. J Pediatr. 2011;158(5):735–739. 301. Nguyen D, Letts M. In-line skating injuries in children: a ten year review. J Pediatr Orthop. 2001;21:613–618.

1246

302. Nietosvaara Y, Aalto K, Kallio P.E. Acute patellar dislocation in children: incidence and associated osteochondral fractures. J Pediatr Orthop. 1994;14(4):513–515. 303. Noguchi T. A survey of spinal cord injuries resulting from sport. Paraplegia. 2001;32:170–173. 304. Noyes F.R, Barber-Westin S.D. Arthroscopic repair of meniscal tears extending into the avascular zone in patients younger than twenty years of age. Am J Sports Med. 2002;30:589–600. 305. Noyes F.R. Barber SD, Mangine RE: Abnormal lower limb symmetry determined by function hop tests after anterior cruciate ligament rupture. Am J Sports Med. 1991;19(5):513– 518. 306. Noyes F.R, Berrios-Torres S, Barber-Westin S.D, et al. Prevention of permanent arthrofibrosis after anterior cruciate ligament reconstruction alone or combined with associated procedures: a prospective study in 443 knees. Knee Surg Sports Traumotol Arthrosc. 2000;8(4):196– 206. 307. Reference deleted in proofs. 308. Ogden C.L, Carroll M.D, Kit B.K, Flegal K.M. Prevalence of childhood and adult obesity in the United States, 20112012. JAMA. 2014;311(8):806–814. 309. Ogden C.L, Flegal K.M, Carroll M.D, et al. Relevance and trends in overweight among US children and adolescents 1999-2000. JAMA. 2002;288(14):1728–1732. 310. Ogden J.A. Skeletal injury in the child. New York: SpringerVerlag; 2000. 311. Ogden J.A, Tross R.B, Murphy M.J. Fractures of the tibial tuberosity in adolescents. J Bone Joint Surg Am. 1980;62(2):205–215. 312. Ogg-Groenendaal M, Hermans H, Claessens B. A systematic review on the effect of exercise interventions on challenging behavior for people with intellectual disabilities. Res Dev Disabil. 2014;35(7):1507–1517. 313. Onate K, Cortes N, Welch C, Van Lunen B.L. Expert versus novice interrater reliability and criterion validity of the landing error scoring system. J Sports Rehanil. 2010;19(1):41–

1247

56. 314. World Health Organization. 1992. 315. World Health Organization. 1993. 316. Outerbridge A.R, Micheli L.J. Overuse injuries in young athletes. Clin Sports Med. 1995;14:503–516. 317. Padua D.A, Marshall S.W, Boling M.C, Thigpen C.A, Garrett Jr. W.E, Be Landing Error Scoring System (LESS) is a valid and reliable clinical assessment tool of jump-landing biomechanics: the JUMPACL study. Am J Sports Med. 2009;37(10):1996–2002. 318. Paletta Jr. G.A, Arish J.T. Injuries about the hip and pelvis in the young athlete. Clin Sports Med. 1995;14:591–628. 319. Paralympic Games | Winter, Summer, Past, Future Paralympics Available at: URL. http://www.paralympic.org/paralympic-games. 320. Pare G, Noreau L, Simard C. Prediction of maximal aerobic power from a submaximal exercise test performed by paraplegics on a wheelchair ergometer. Paraplegia. 1993;31(9):584–592. 321. Patel D.R, Nelson T.L. Sports injuries in adolescents. Med Clin North Am. 2000;84:983–1007. 322. Paterno M.V, Schmitt L.C, Ford K.R, et al. Biomechanical measures during landing and postural stability predict second anterior cruciate ligament injury after ACL reconstruction and return to sport. Am J Sports Med. 2010;38(10):1968–1978. 323. Paterson P.D, Waters P.M. Shoulder injuries in the childhood athlete. Clin Sports Med. 2000;19:681–692. 324. Pedraza J, Jardeleza J.A. The preparticipation physical examination. Prim Care. 2013;40(4):791–799 vii. 325. Peel K.A, Fagan C, Keener M, Shelton M. Director’s Order #42: accessibility doi:. http://www.nps.gov/refdesk/DOrders/DOrder42.htm 326. Peljovich A.E, Simmons B.P. Traumatic arthritis of the hand and wrist in children. Hand Clin. 2000;16:673–684. 327. Pellman E.J, Viano D.C, Withnall C, Shewchenko N, Bir C.A, Halstead P in professional football: helmet testing to assess impact

1248

performance—part 11. Neurosurgery. 2006;58(1):78– 96 discussion 78-96. 328. Petersen W, Ellermann A, GoseleKoppenburg A, Best R, Rembitzki I.V, Bruggemann G.P, Liebau C. Pate pain syndrome. Knee Surg Sports Traumotol Arthrosc. 2014;22(10):2264–2274. 329. Peterson M, Peterson K. Eat to compete: a guide to sports nutrition. Chicago: Year Book Medical; 1988. 330. Phillips A.C, Holland A.J. Assessment of objectively measured physical activity levels in individuals with intellectual disabilities with and without Down’s syndrome. PloS One. 2011;6(12):e28618. 331. Pieper P: Epidemiology and prevention of sports-related eye injuries. J Emerg Nurs 36(4):359–361. 332. Pieter W. Martial arts injuries. Med Sport Sci. 2005;48:59–73. 333. Pitetti K.H, Rimmer J.H, Fernhall B. Physical fitness and adults with mental retardation: an overview of current research and future directions. Sports Med. 1993;16:23–56. 334. Plisky P.J, Rauh M.J, Kaminski T.W, Underwood F.B. Star Excursion Balance Test as a predictor of lower extremity injury in high school basketball players. J Orthop Sports Phys Ther. 2006;36(12):911–919. 335. Pommering T.L, Kluchurosky L. Overuse injuries in adolescents. Adolesc Med State Art Rev. 2007;18(1):95–120 ix. 336. Popchak A, Burnett T, Weber N, Boninger M. Factors related to injury in youth and adolescent baseball pitching, with an eye toward prevention. Am J Phys Med Rehabil. 2015;94(5):395–409. 337. Powell E.C. Protecting children in the accident and emergency department. Accid Emerg Nurs. 1997;5:76–80. 338. Powell E.C, Tanz R.R. Cycling injuries treated in emergency departments: need for bicycle helmets among preschoolers. Arch Pediatr Adolesc Med. 2000;154:1096–1100. 339. Powell E.C, Tanz R.R. Tykes and bikes: injuries associated with bicycle-towed child trailers and bicycle-mounted child seats. Arch Pediatr Adolesc Med. 2000;154:351–353. 340. Powers C.M. The influence of altered lower-extremity kinematics on patellofemoral joint dysfunction: a theoretical

1249

perspective. J Orthop Sports Phys Ther. 2003;33(11):639–646. 341. Price M. Thermoregulation during exercise in individuals with spinal cord injuries. Sports Med. 2006;36(10):863–879. 342. Prince J.S, Laor T, Bean J.A. MRI of anterior cruciate ligament injuries and associated findings in the pediatric knee: changes with skeletal maturation. AJR Am J Roentgenol. 2005;185(3):756–762. 343. Puffer J.C. Organizational aspects. In: Cantu R.C, Micheli L.J, eds. ACSM’s guidelines for the team physician. Philadelphia: Lea Febiger; 1991:95– 100. 344. Ramirez M, Yang J, Bourque L, Javien J, Kashani S, Limbos M.A, PeekAsa C. Sports injuries to high school athletes with disabilities. Pediatrics. 2009;123(2):690–696. 345. Rechel J.A, Collins C.L, Comstock R.D. Epidemiology of injuries requiring surgery among high school athletes in the United States, 2005 to 2010. J Trauma. 2011;71(4):982–989. 346. Regan K.J, Banks G.K, Beran R.G. Therapeutic recreation programmes for children with epilepsy. Seizure. 1993;2(3):195–200. 347. Reid A, Birmingham T.B, Stratford P.N, et al. Hop testing provides a reliable and valid outcome measure during rehabilitation after anterior cruciate ligament reconstruction. Phys Ther. 2007;87(3):337–349. 348. Reinold M.M, Wilk K.E, Macrina L.C, et al. Current concepts in the rehabilitation following articular cartilage repair procedures in the knee. J Orthop Sports Phys Ther. 2006;36:774–794. 349. Renstrom P, Ljungqvist A, Arendt E, et al. Non-contact ACL injuries in female athletes: an International Olympic Committee current concepts statement. Br J Sports Med. 2008;42(6):394–412. 350. Rice S.G. Medical conditions affecting sports participation. Pediatrics. 2008;121(4):841–848. 351. Rice S.G, Congeni J.A. Baseball and softball. Pediatrics. 2012;129(3):e842–e856. 352. Rifat S.F, Ruffin 4th. M.T, Gorenflo D.W. Disqualifying

1250

criteria in a preparticipation sports evaluation. J Fam Pract. 1995;41:42–50. 353. Rights, U. S. D. o. E. O. f. C. Dear Colleague. 2015. 354. Rimmer J.H. Physical fitness levels of persons with cerebral palsy. Dev Med Child Neurol. 2001;43(3):208–212. 355. Rimmer J.H, Rowland J.L, Yamaki K. Obesity and secondary conditions in adolescents with disabilities: addressing the needs of an underserved population. J Adolesc Health. 2007;41(3):224–229. 356. Robinson R.L, Nee R.J. Analysis of hip strength in females seeking physical therapy treatment for unilateral patellofemoral pain syndrome. J Orthop Sports Phys Ther. 2007;37(5):232–238. 357. Rogers A, Furler B.L, Brinks S, Darrah J. A systematic review of the effectiveness of aerobic exercise interventions for children with cerebral palsy: an AACPDM evidence report. [1a (background)]. Dev Med Child Neurol. 2008;50(11):808–814. 358. Roi G.S, Creta D, Nanni G, et al. Return to official Italian First Division soccer games within 90 days after anterior cruciate ligament reconstruction: a case report. J Orthop Sports Phys Ther. 2005;35(2):52–61 discussion, 61-66. 359. Rose S.C, Weber K.D, Collen J.B, Heyer G.L. The diagnosis and management of concussion in children and adolescents. Pediatr Neurol. 2015;53(2):108–118. 360. Rossi F, Dragoni S. Lumbar spondylolisthesis: occurrence in competitive athletes. J Sports Med Fitness. 1990;30:450–452. 361. Rudzki J.R, Paletta Jr. G.A. Juvenile and adolescent elbow injuries in sports. Clin Sports Med. 2004;23(4):581–608 ix. 362. Sachtelben T.R, Berg K.E, Elias B.A, Cheatham J.P, Felix G.L, Hofschire effects of anabolic steroids on myocardial structure and cardiovascular fitness. Med Sci Sports Exerc. 1993;25:1240– 1245. 363. Sahlin K.B, Lexell J. Impact of organized sports on activity, participation, and quality of life in people with neurologic disabilities. PM R. 2015;10:1081–1088. 364. Salter R.B, Harris W.R. Injuries involving the epiphyseal

1251

plate. J Bone Joint Surg. 1963;45-A:587–622. 365. Samora 3rd. W.P, Palmer R, Klingele K.E. Meniscal pathology associated with acute anterior cruciate ligament tears in patients with open physes. J Pediatr Orthop. 2011;31(3):272–276. 366. Sanders B, ed. Sports physical therapy. Norwalk, CT: Appleton Lange; 1990. 367. Sanders B, Blackburn T.A, Boucher B. Preparticipation screening—the sports physical therapy perspective. Int J Sports Phys Ther. 2013;8(2):180–193. 368. Scat3. Br J Sports Med. 2013;47(5):259. 369. Reference deleted in proofs. 370. Schmitt L.C, Byrnes R, Cherny C, et al. Evidence-based clinical care guideline for management of osteochondritis dissecans of the knee. Guideline. 2009;037:1– 16. http://www.cincinnatichildrens.org/svc/alpha/h/healthpolicy/otpt.htm. 371. Schmitt L.C, Paterno M.V, Huang S. Validity and internal consistency of the International Knee Documentation Committee Subjective Knee Form in Children and Adolescents. Am J Sports Med. 2010;38(223):2443–2447. 372. Schneider K.J, Iverson G.L, Emery C.A, McCrory P, Herring S.A, Meeuw effects of rest and treatment following sport-related concussion: a systematic review of the literature. Br J Sports Med. 2013;47(5):304–307. 373. Schneider K.J, Meeuwisse W.H, NettelAguirre A, Barlow K, Boyd L, Kang J, Emery C.A. Cervicovestibular rehabilitation in sport-related concussion: a randomised controlled trial. Br J Sports Med. 2014;48(17):1294–1298. 374. Schreuer N, Sachs D, Rosenblum S. Participation in leisure activities: differences between children with and without physical disabilities. Res Dev Disabil. 2014;35(1):223–233. 375. Schuller D.E, Dankle S.K, Martin M, Strauss R.H. Auricular injury and the use of headgear in wrestlers. Arch Otolaryngol Head Neck Surg. 1993;115:714–717. 376. Scopp J.M, Moorman 3rd. C.T. Acute athletic trauma to the hip and pelvis. Orthop Clin North Am. 2002;33(3):555–563.

1252

377. Seidman D.H, Burlingame J, Yousif L.R, et al. Evaluation of the King-Devick test as a concussion screening tool in high school football players. J Neurolol Sci. 2015;365(1-2):97–101. 378. Selsby J.T, Beckett K.D, Kern M, Devor S. Swim performance following creatine supplementation in division III athletes. J Strength Cond. 2003;17(3):421–424. 379. Reference deleted in proofs. 380. Seto C.K, Statuta S.M, Solari I.L. Pediatric running injuries. Clin Sports Med. 2010;29(3):499–511. 381. Sharkey B. Training for sports. In: Cantu R.C, Micheli L.J, eds. ACSM’s guidelines for the team physician. Philadelphia: Lea Febiger; 1991:34–47. 382. Shea K.G, Apel P.J, Pfeiffer R.P. Anterior cruciate ligament injury in paediatric and adolescent patients: a review of basic science and clinical research. Sports Med. 2003;33(6):455–471. 383. Shea K.G, Pfeiffer R, Wang J.H, et al. Anterior cruciate ligament injury in pediatric and adolescent soccer players: an analysis of insurance data. J Pediatr Orthop. 2004;24(6):623–628. 384. Sherrill C, Hinson M, Gench B, Kennedy S.O, Low L. Selfconcepts of disabled youth athletes. Percept Mot Skills. 1990;70:1093–1098. 385. Reference deleted in proofs. 386. Sigurdardottir S, Andelic N, Roe C, Jerstad T, Schanke A.K. Postconcussion symptoms after traumatic brain injury at 3 and 12 months post-injury: a prospective study. Brain Inj. 2009;23(6):489–497. 387. Skokan E.G, Junkins Jr. E.P, Kadish H. Serious winter sports injuries in children and adolescents requiring hospitalization. Am J Emerg Med. 2003;21:95–99. 388. Small E. The preparticipation physical evaluation. In: Hebestreit H, Bar-or O, eds. The young athlete. Boston: Blackwell; 2008:191–202. 389. Smith A.D. The skeletally immature knee: what’s new in overuse injuries. Instr Course Lect. 2003;52:691–697. 389a. Smith G.E. Objective testing group certifies head

1253

protection. Occup Health Safety. 1988;57(3):18–20. 390. Smith J, Laskowski E.R. The preparticipation physical examination: Mayo Clinic experience with 2,739 examinations. Mayo Clinic Proc. 1998;73:419–429. 391. Smith J, Wilder E.P. Musculoskeletal rehabilitation and sports medicine. Arch Phys Med Rehabil. 1999;80:S68–S89. 392. Special Olympics. World and Regional Games Center Available from: URL:. http://www.specialolympics.org/Games/World_and_Regional_G 393. Stanitski C.L. Pediatric and adolescent sports injuries. Clin Sports Med. 1997;16:613–633. 394. Stanitski C.L, Delee J.C, Drez D. Pediatric and adolescent sports medicine. Philadelphia: WB Saunders; 1994. 395. Stracciolini A, Casciano R, Levey Friedman H, Stein C.J, Meehan 3rd. W.P, Micheli L.J. Pediatric sports injuries: a comparison of males versus females. Am J Sports Med. 2014;42(4):965–972. 396. Surgeon General. Call to action to prevent and decrease overweight and obesity Washington, DC. 2001 Available at: URL:. www.surgerongeneral.gov/topics/obesity. 397. Swenson D.M, Collins C.L, Best T.M, Flanigan D.C, Fields S.K, Comstoc of knee injuries among U.S. high school athletes, 2005/20062010/2011. Med Sci Sports and Exerc. 2013;45(3):462–469. 398. Taimela S, Kujala U.M, Osterman K. Intrinsic risk factors and athletic injuries. Sports Med. 1990;9:205–215. 399. Taylor B.L, Attia M.W. Sports-related injuries in children. Acad Emerg Med. 2000;7:1376–1382. 400. Team LPIM, Center CCsHM. Evidence-based clinical care guidelines for conservative management of lateral patellar dislocations and instability. Guideline. 2014;44:1– 20. http://www.cincinnatichildrens.org/svc/alpha/h/healthpolicy/ev-based/Conservative Management of Lateral Patellar Dislocations and Instability.htm. 401. Tepper K.B, Ireland M.L. Fracture patterns and treatment in the skeletally immature knee. Instr Course Lect. 2003;52:667– 676. 402. The National Federation of State High School

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Associations Available at: URL:. http://www.nfhs.org. 403. Tol J.L, Struijs P.A, Bossuyt P.M, Verhagen R.A, van Dijk C.N. Treatment strategies in osteochondral defects of the talar dome: a systematic review. Foot Ankle Int. 2000;21:119–126. 404. Turbanski S, Schmidtbleicher D. Effects of heavy resistance training on strength and power in upper extremities in wheelchair athletes. J Strength Cond Res. 2010;24(1):8–16. 405. Tweedy S.M, Beckman E.M, Connick M.J. Paralympic classification: conceptual basis, current methods, and research update. PM R. 2014;6(Suppl 8):S11–17. 406. USDA/ARS Children’s Nutrition Research Center at Baylor College of Medicine Available at: URL:. www.bcm.tmc.edu/cnrc/consumer/archives/percentDV.htm 406a. US Department of Health and Human Services, Office for Civil Rights. Your rights under Section 504 of the Rehabilitation Act. Washington, D.C., 2006. 407. Vanderhave K.L, Moravek J.E, Sekiya J.K, Wojtys E.M. Meniscus tears in the young athlete: results of arthroscopic repair. J Pediatr Orthop. 2011;31(5):496–500. 408. Vanlandewijck Y.C, Verellen J, Tweedy S. Towards evidence-based classification in wheelchair sports: impact of seating position on wheelchair acceleration. J Sports Sci. 2011;29(10):1089–1096. 409. Varni J.W, Setoguchi Y. Correlates of perceived physical appearance in children with congenital/acquired limb deficiencies. J Dev Behav Pediatr. 1991;12:171–176. 410. Varni J.W, Seid M, Kurtin P.S. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800–812. 411. Varni J.W, Seid M, Rode C.A. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999;37(2):126–139. 412. Vavken P, Wimmer M.D, Camathias C, Quidde J, Valderrabano V, Page patella instability in skeletally immature

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patients. Arthroscopy. 2013;29(8):1410–1422. 413.

Verschuren O, Ketelaar M, Gorter J.W, Helders P.J, Uiterwaal C.S, Takk training program in children and adolescents with cerebral palsy: a randomized controlled trial. Arch Pediatr Adolesc Med. 2007;161(11):1075–1081. 414. Verschuren O, Ketelaar M, Takken T, Helders P.J, Gorter J.W. Exercise programs for children with cerebral palsy: a systematic review of the literature. Am J Phys Med Rehabil. 2008;87(5):404–417. 415.

Vidal P.G, Goodman A.M, Colin A, Leddy J.J, Grady M.F. Rehabilitation strategies for prolonged recovery in pediatric and adolescent concussion. Pediatr Ann. 2012;41(9):1–7. 416. Vinger P.F. The mechanisms and prevention of sports eye injuries Available at: URL:. http://www.lexeye.com/pdf/section1.pdf. 417. Vis J.C, de BruinBon R.H, Bouma B.J, Backx A.P, Huisman S.A, Imschoot L, Mulder B.J. sedentary heart’: physical inactivity is associated with cardiac atrophy in adults with an intellectual disability. Int J Cardiol. 2012;158(3):387–393. 418. Vitello S, Dvorkin R, Sattler S, Levy D, Ung L. Epidemiology of Nursemaid’s Elbow. West J Emerg Med. 2014;15(4):554– 557. 419. Wagner J.C. Enhancement of athletic performance with drugs. An overview. Sports Med. 1991;12:250–265. 420. Waicus K.M, Smith B.W. Back injuries in the pediatric athlete. Curr Sports Med Rep. 2002;1:52–58. 421. Wall E.J. Osgood-Schlatter disease: practical treatment for a self-limiting condition. Phys Sportsmed. 1998;26(3):29–34. 422. Waters P.M, Millis M.B. Hip and pelvic injuries in the young athlete. Clin Sports Med. 1988;7:513–526. 423. Webborn N, Emery C. Descriptive epidemiology of Paralympic sports injuries. PM R. 2014;6(Suppl 8):S18–S22. 424. Wessels K.K, Broglio S.P, Sosnoff J.J. Concussions in

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wheelchair basketball. Arch Phys Med Rehabil. 2012;93(2):275–278. 425. Wiart L, Darrah J, Kelly M, Legg D. Community fitness programs: what is available for children and youth with motor disabilities and what do parents want? Phys Occupat Ther Pediatr. 2015;35(1):73–87. 426. Wilk K.E, Briem K, Reinold M.M, Devine K.M, Dugas J, Andrews J.R. R of articular lesions in the athlete’s knee. J Orthop Sports Phys Ther. 2006;36(10):815–827. 427. Wilk K.E, Reinold M.M, Andrews J.R. Rehabilitation of the thrower’s elbow. Clin Sports Med. 2004;23(4):765–801 xii. 428. Wilson P.E. Exercise and sports for children who have disabilities. Phys Med Rehabil Clin North Am. 2002;13(4):907– 923 ix. 429. Reference deleted in proofs. 430. Winston F.K, Weiss H.B, Nance M.L, Vivarelli O, Neill C, Strotmeyer S, of the incidence and costs associated with handlebar-related injuries in children. Arch Pediatr Adolesc Med. 2002;156:922– 928. 431. Yasmingarcia. Uniform Throwing Chair for Seated Throwing Sporting Events Available from: URL:. http://aacrerc.psu.edu/wordpressmu/RESNASDC/2010/05/13/uniform-throwing-chair-for-seatedthrowing-sporting-events/. 432. Yesalis C.E, Bahrke M.S. Doping among adolescent athletes. Baillieres Best Pract Res Clin Endocrinol Metab. 2000;14:25–35. 433. Zanon G, Di Vico G, Marullo M. Osteochondritis dissecans of the knee. Joints. 2014;2(1):29–36. 434. Zoints L.E. Fractures around the knee in children. J Am Acad Orthop Surg. 2002;10:345–355.

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Bania T, Dodd K.J, Taylor N. Habitual physical activity can be increased in people with cerebral palsy: a systematic review. Clin Rehab. 2011;25:303– 315. Bloemen M.A.T, Backx F.J.G, Takken T, et al. Factors associated with physical activity in children and adolescents with a physical disability: a systematic review. Dev Med Child Neurol. 2015;57:137–148. Cahill-Rowley K, Rose J. Etiology of impaired selective motor control: emerging evidence and its implications for research and treatment in cerebral palsy. Dev Med Child Neurol. 2013;56:522–528. Dewar R, Love S, Johnston L.M. Exercise interventions improve postural control in children with cerebral palsy: a systematic review. Dev Med Child Neurol. 2015;57:504–520. Gannoti M.E, Christy J.B, Heathcock J.C, Kolobe T.H.A. A path model for evaluating dosing parameters for children with cerebral palsy. Phys Ther. 2014;94:411–421. Gibson B.E, Teachman G, Wright V, et al. Children’s and parents’ beliefs regarding the value of walking: rehabilitation implications for children with cerebral palsy. Child Care Health Dev. 2011;38:61–69. Hadders-Algra M. Early diagnosis and early intervention in cerebral palsy. Front Neurol. 2014;5:1–13. Livingstone R, Paleg G. Practice considerations for the introduction and use of mobility for children. Dev Med Child Neurol. 2014;56:210–222. Park E.Y, Kim W.H. Meta-analysis of the effect of strengthening interventions in individuals with cerebral palsy. Res Dev Disabil. 2014;35:239–249. Penner M, Xie W.Y, Binepal N, et al. Characteristics of pain in children and youth with cerebral palsy. Pediatrics. 2013;132:e407–e413. Rosenbaum P, Gorter J.W. The “F-words” in childhood disability: I swear this is how we should think!. Child Care Health Dev. 2011;38:457–463. Sakzewski L, Ziviani J, Boyd R.N. Efficacy of upper limb therapies for unilateral cerebral palsy: a meta-analysis. Pediatr Phys Ther. 2014;26:28– 37. Verschuren O, Darrah J, Novak I, et al. Health-enhancing physical activity in children with cerebral palsy: more of the same is not enough. Phys Ther. 2014;94:297–305. Vos R.C, Becher J.G, Ketalaar M, et al. Developmental trajectories of daily activities in children and adolescents with cerebral palsy. Pediatrics. 2013;132:e915–e923.

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Brachial Plexus Injury Susan V. Duff, and Darl Vander Linden

This chapter focuses on perinatal brachial plexus injury (PBPI), yet the concepts presented apply to resultant impairments, activity limitations, and participation restrictions caused by brachial plexus injury in children at any age. Therapists may work with infants and children with PBPI in a variety of settings, including early intervention programs, acute care hospitals, and specialty clinics. Therapists may also be involved with this population after microsurgical repair to the brachial plexus in infants or after shoulder reconstruction in toddlers and older children. This chapter reviews the etiology and pathophysiology, examination, procedural interventions, family education, and medical management of children with PBPI.

Background Information Etiology and Incidence A traction injury to the brachial plexus (Fig. 20.1) can occur during a difficult delivery.28 During a vaginal delivery, forceful traction and rotation of the head during a vertex presentation to deliver the shoulder tends to injure the C5 and C6 roots or the associated nerves. Traction on the newborn’s shoulder during delivery of the

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head in a breech delivery can injure the cervical roots or nerves, fracture the clavicle or humerus, or cause a subluxation of the shoulder. The likelihood of injury to the brachial plexus drops from 0.2% to 0.02% during delivery by cesarean section.28 Associated damage to the phrenic nerve at C4 is less common but will cause ipsilateral hemiparesis of the diaphragm. Congenital anomalies such as a cervical rib, abnormal thoracic vertebrae, or a shortened scalenus anticus muscle can also cause pressure on the lower plexus.62 The incidence of PBPI has been reported to range from 0.38 to 5.1 per 1000.14,21,34,78 Risk factors that can contribute to PBPI include shoulder dystocia (catching of the shoulder), birth weight greater than the 90th percentile (4500–5000 g), prolonged maternal labor, maternal gestational diabetes, and breech delivery.1,19,29,51,78 In a prospective study of 62 infants with PBPI of whom 17 had permanent impairment, 16 of the 17 infants had birth weights over 3500 g and only 1 of the 17 had a birth weight less than 3500 g. Twelve of 13 infants (92%) diagnosed with PBPI at birth who weighed less than 3500 g had full recovery of function, but only 67% of infants (33 of 49) who weighed more than 3500 g had full recovery.78

Pathophysiology Damage to the nerve structure can occur at the level of the nerve rootlets attached to the spinal cord, at the anterior or posterior rootlets (distal to where the rootlets coalesce to form the mixed nerve root that exits the vertebral canal), or in the spinal nerve itself.79 Roots, trunks, divisions, cords, and peripheral nerves can all suffer neurotmesis (complete rupture), axonotmesis (disruption of axons while the endoneurium remains intact), or neurapraxia (temporary nerve conduction block with intact axons).65,79 Partial or complete rupture may evolve into a neuroma and a mass of fibrous tissue as disorganized neurons on the proximal end attempt to reach the distal end. Recovery is usually limited after ruptures and often requires microsurgical repair. Prognosis after axonotmesis is better as the neurons reconnect more successfully through the intact

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endoneurium. Axon regrowth reportedly proceeds at approximately 1 mm per day.65 Given this timeline, recovery in most infants with PBPI can take up to 4 to 6 months in the upper arm and 7 to 9 months in the lower arm.65 Continued recovery can occur for up to 2 years in the upper arm and 4 years in the lower arm.22 Early recovery after neurapraxia occurs as edema resolves and is usually quick and complete, sometimes within days or weeks.34 Among infants and children with PBPI, a combination of these types of lesions is common. Furthermore, axon regrowth in young children may be quicker due to neuroplasticity and the shorter growth distance, which may explain the variability of the return of motor function in individual muscles.

Natural History and Prognosis The natural history and recovery of PBPI are difficult to determine because few studies have followed children over a long period of time and authors have primarily used outcome measures of impairment and not of activity and participation. In early studies, a recovery rate of 80% to over 90% was reported.10,50 As a result, a favorable prognosis has been perceived for the majority of infants with PBPI. More recent studies, however, have reported recovery rates of 66% to 73%.34,54 Thus, close to 35% of infants and children do not fully recover. In a systematic review designed to describe the natural history of PBPI, Pondaag and colleagues60 examined the literature on PBPI outcomes. The inclusion criteria were (1) a prospective design, (2) all children with PBPI from a demographic area be followed, (3) a minimum follow-up of 3 years with < 10% loss to follow-up, and (4) use of a well-defined outcome measure with a reproducible scoring system and no surgical intervention. Of the 103 identified articles, none met even three of the four criteria defined for the systematic review, but 27 of the 103 met two criteria. Based on the findings, the authors concluded that the excellent prognosis often cited for PBPI was not based on sound scientific evidence.60

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FIG. 20.1 The brachial plexus. Injury can occur at any

point along the nerves as they branch off the spinal cord and weave into the brachial plexus. (Redrawn from Waters PM: Obstetric brachial plexus palsy, J Am Acad Orthop Surg 5:205-214, 1997.)

Estimates of spontaneous recovery from PBPI are difficult to establish because many children have neurapraxic lesions that resolve within a few days or weeks so these children are not included in many follow-up studies. Hoeksma and colleagues34 found, in fact, that 34% of infants (19 of 56) diagnosed with PBPI at birth had full recovery by 3 weeks of age. However, they also found that 32% (18 of 56) had “late” recovery by 1 year of age, and 19 of 56 (34%) did not have full recovery of muscle strength when assessed at a mean age of 3 years. The authors indicated that if the criteria for a “good” outcome as described by Michelow and colleagues50 of “more than ½ of normal range of shoulder and elbow motion” had been used with their cohort of 56 children, 93% would have had a “good” outcome.33 DiTaranto and colleagues13 followed 91 infants in Argentina who did not have access to neurosurgical intervention

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for at least 2 years. They reported that although 69% had full recovery, 18% of infants had minimal recovery and 13% had global PBPI with flaccid and insensate arms. The differences reported in the natural history and outcomes for children with PBPI make it difficult for parents and professionals to accurately predict to what extent children will recover postinjury. Studies have begun to use outcome measures standardized for infants and children with PBPI such as the Active Movement Scale10 and the Modified Mallet Scale.2 Although more recent reports have specifically defined outcomes based on strength of specific muscle groups,34,35 few studies report outcomes in terms of activity limitations and participation restrictions in children, adolescents, and adults.

Changes in Body Structure and Function Injury Classification and General Impairments Injury can occur at any level of the brachial plexus, but the most common injury is to the upper plexus (C5 and C6) resulting in a condition referred to as Erb’s palsy.28 Strombeck and colleagues reported that of 247 children followed for PBPI, 52% had C5-C6 involvement and an additional 34% had C5-C7 involvement.63 As a result of injury to the fibers from the upper plexus, the child’s shoulder is usually held in extension, internal rotation, and adduction; the elbow is extended; the forearm is pronated; and the wrist and fingers are flexed in the waiter’s tip position (Fig. 20.2). Paralysis or decreased activation of the rhomboids, levator scapulae, serratus anterior, subscapularis, deltoid, supraspinatus, infraspinatus, teres minor, biceps, brachialis, brachioradialis, supinator, and long extensors of the wrist, fingers, and thumb can be expected. Grasp is left intact, but sensation may be diminished or lost. Elbow and finger extension are compromised if C7 is also involved and are referred to as an extended Erb’s palsy. Global palsy involves injury to the upper and lower plexus (C5-

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T1) resulting in paralysis or decreased activation of all muscles of the affected arm with loss of or diminished sensation.28 Strombeck and colleagues reported that 13% of the children with PBPI in their follow-up study had involvement of the C5-T1 roots.63 Involvement is usually unilateral but has been reported to be bilateral in a low percentage of children.71 The pattern of motor loss does not always fit the classic definitions, indicating incomplete or mixed upper and lower types of injury. Horner’s syndrome, as a result of T1 root avulsion, or the sympathetic ganglion, can cause deficient sweating, recession of the eyeball, abnormal pupillary contraction, myosis, ptosis, and irises of different colors.14

FIG. 20.2 Child with Erb’s palsy, a C5-C6 brachial

plexus injury, resulting in the waiter’s tip position of the UE, which is typically observed with this type of injury. (From Shenaq SM, Bullocks JM, Dhillon G: Management of infant brachial plexus injuries, Clin Plast Surg 32:79-98, 2005.)

Klumpke’s palsy by definition involves only the lower roots or

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spinal nerves C8-T1.37 In a 1995 review, Al-Qattan and colleagues found Klumpke’s palsy in only 20 of 3508 cases of PBPI reported in the papers they reviewed, for an incidence of only 0.6%.3 When pure Klumpke’s palsy is present, the child’s shoulder and elbow movements are not impaired, but the resting position of the forearm is typically in supination with paralysis of the wrist flexor and extensor muscles and the intrinsic muscles of the wrist and hand. Positional torticollis can develop as a result of the infant’s head being habitually positioned away from the affected arm, or it may be present from the same trauma that caused the PBPI.31 In addition, some infants develop plagiocephaly from prolonged positioning. See Chapter 9 for more information regarding examination of and interventions for torticollis and plagiocephaly. During the period of neural regeneration following PBPI, infants and toddlers use muscle substitutions that are the most advantageous given the strength of the available innervated muscles. For example, internal rotation at the shoulder, combined with forearm pronation and wrist flexion, is often used to obtain objects. Neglect of the affected extremity may occur due to diminished sensibility or the comparative ease with which the opposite arm and hand can accomplish a task. Some infants also demonstrate self-mutilation of the limb such as biting if there is diminished sensation.45 Patterns of substitution, neglect, or abuse are reinforced with repetition. The problems that arise from these repetitive patterns include soft tissue and muscle contractures, muscle atrophy, and abnormal bone growth. The contractures most likely to develop are scapular protraction; shoulder extension, adduction, and internal rotation; and elbow flexion. Contractures into forearm pronation as well as wrist and finger flexion may occur in those with severe injury or Klumpke’s palsy. These patterns will obviously vary depending on the denervation pattern.

Shoulder Impairment As the infant develops, persistent muscle imbalance and habitual posturing contribute to common anatomic changes in the shoulder. These changes can include flattening of the humeral head, an

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abnormally short clavicle, humeral head hypoplasia, posterior subluxation of the humeral head, an irregular glenoid fossa, ligamentous pathology, and muscle tightness.24,33,39 These deficits correlate with a loss of passive and active shoulder external rotation (ER) along with other changes in shoulder biomechanics.14,39 The mean glenohumeral-to-scapulothoracic (GH-to-ST) ratio in typically developing children is reportedly 1.3 to 1 in children 6.7 ± 1.5 years12 and 1.43 to 1 in children 9.12 ± 1.51 years.27 Duff and colleagues15 examined the GH-to-ST ratio in children 7.81 ± 2.93 years who sustained PBPI yet had not undergone microsurgery or shoulder reconstruction. During active abduction in the scapular plane, the authors found a mean loss in the GH-to-ST ratio (0.6 to 1) in the affected arm of children with limited arm elevation (< 75°). This first group of children tended to rely on scapular upward rotation versus GH joint elevation to raise the affected arm. Children who could raise the affected arm 75° and above displayed a mean GH-to-ST ratio of 1.7 to 1 during shoulder range of 15° to 75°. Thus, the GH joint of the second group made a greater contribution to arm elevation in the affected arm.

Activity and Participation Limitations Activity limitations will vary greatly, depending on the extent of the initial pathology, neurologic regeneration, and residual impairments. The primary activity limitations in children with PBPI relate to reach-to-grasp skills and the performance of tasks that require bilateral arm use such as catching a large ball or lifting a large object. Activities of daily living (ADLs) that require bilateral upper extremity (UE) use will be compromised. These activities would include donning and removing shirts and pants, tying shoes, and securing fasteners. Studies that examine the nature and extent of activity limitations such as dressing and eating or participation restrictions are emerging.32 Typical developmental activities may be compromised as a result of PBPI. Transitions from prone or supine to sitting could habitually be done from one side, thereby asymmetrically strengthening one side of the trunk or delaying development of balance reactions. The developmental milestone of creeping on all fours may not occur or

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may be adapted because the child may not be able to safely bear weight on the affected arm or may not be able to extend the wrist sufficiently. The child may also scoot around while sitting or progress directly to walking at the appropriate age. Neglect of the affected limb during activity and self-abusive behavior such as biting can occur because of diminished sensory awareness.46 Injuries such as burns, insect bites, and abrasions may go unnoticed if sensibility is severely compromised. Shoulder pain and neuritis in adults are complications that can interfere not only with the function of the affected arm but also with other aspects of the individual’s social or vocational activities.

FIG. 20.3 Stabilization of the scapula during passive

ROM: A, Lateral stabilization during humeral elevation. B, Medial and superior stabilization during humeral external rotation. C, Medial and superior stabilization during humeral external rotation in sidelying. (Images courtesy of SV Duff. From Duff SV, DeMatteo C: Clinical assessment of the infant and child following perinatal brachial plexus injury, J Hand Therapy 28:126-134, 2016.)

Foreground Information Therapeutic Examination Clinical examination of the neonate with PBPI may be requested before discharge from the hospital. Infants and children may also be referred to therapy in the days, weeks, months, or years after the initial injury. An examination of active and passive range of motion

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(ROM), posture, pain, sensory status, and visual skills is key in establishing a baseline of early function and capability.4 Screening the developmental status of the infant or child will ensure that other pathologic conditions are not missed. In the infant, frequent reexamination documents motor and sensory recovery as neural regeneration occurs. These data aid in program planning, whether it be therapeutic exercise, positioning, splinting, determining eligibility for surgery, or establishing readiness for discharge from intervention.

Impairments Imaging: Electromyography Neonatally, radiographs are taken to assess for clavicular or humeral fractures.79 Infants not showing evidence of recovery may initially undergo imaging between 1 and 6 months of age, yet the exact timing of testing varies. Imaging is frequently done to examine the integrity of the nerve roots and neural structure as well as the integrity of the glenohumeral joint. Imaging in the form of magnetic resonance imaging (MRI), electrodiagnostic studies, computed tomography (CT), CT with metrizamide (CTmyelogram), and ultrasound can be used diagnostically and to aid in surgical planning.2,47,69 CT myelography and MRI are the most frequent modes used to examine nerve structures.79 Noninvasive ultrasound of the glenohumeral joint72 between 3 and 6 months of age is reportedly useful to diagnose posterior subluxation of the humeral head.61 Imaging studies are often repeated in older infants and children to examine glenohumeral joint structure before shoulder reconstruction. However, imaging does not replace the careful physical examination of the clinical and functional consequences of neurologic damage and neural regeneration. Electromyography (EMG), although of little prognostic value, can determine the extent of involvement and is often recommended as a preoperative baseline.64,69,70 Repeated EMG testing can alert the clinician to muscles that are undergoing reinnervation before obvious motor changes occur. Findings from diagnostic EMG have been used to assess the extent and severity of the lesion, but they may not correlate well with findings upon surgical exploration.30

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Reinnervation after microsurgery can be identified by EMG immediately after surgery or in the following weeks and months, before clinical signs of motor return are present. This information may alter therapeutic goals and intervention strategies, and it may change a patient’s prognosis significantly.

Range of Motion At any age, passive ROM measurements of the affected arm and cervical area are performed and compared with the contralateral side. Initially, movements should be performed with great care because the child’s joints can be unstable38 and the child may be experiencing pain or diminished/absent sensibility in the affected limb. It is critical to establish baseline passive ROM with goniometry before examining muscle strength. It is also essential that during passive assessment of the GH joint the scapula is stabilized,16,24 as shown in Fig. 20.3A-C. Gharbaoui and colleagues24 published a review of the anatomic changes in the GH joint and shoulder in children with perinatal brachial plexus palsy. The authors recommend measuring five shoulder motions: (1) scapulohumeral (SH) angle in abduction, (2) SH angle in adduction, (3) SH angle in horizontal adduction, (4) GH internal rotation (IR) arc of motion in 90° abduction and 90° elbow flexion, and (5) GH ER arc of motion in 90° abduction and 90° elbow flexion. The reader is referred to this article for a full description and photos of the measurement positions and goniometry placement. Muscle Strength and Motor Function In the infant, clinicians can observe limb movement or palpate muscle contractions when testing a variety of responses and reflexes/reactions such as visual tracking, asymmetrical neck righting reflex, the Moro reflex, the Galant reflex, or the handplacing reaction.16 Arm and head movement can be observed during wakeful play periods as a child tries to bring the hand to the mouth or reach for a toy. Care should be taken to document whether movements are made with gravity minimized or against gravity. Asymmetry of abdominal and thoracic movement may indicate phrenic nerve paralysis.

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TABLE 20.1 Active Movement Scale

∗

Shoulder (abduction, adduction, flexion, external rotation, internal rotation), elbow (flexion, extension), forearm (supination, pronation), wrist (flexion, extension), thumb (flexion, extension). Full active range of motion with gravity minimized (grade 4) must be achieved before active range against gravity is scored (grades 5 to 7). From Clarke HM, Curtis GC: An approach to obstetrical brachial plexus injuries, Hand Clin 11:567, 1995.

A muscle grading system, titled the Active Movement Scale (AMS) has been developed specifically for infants and children with PBPI to capture subtle but significant changes in active movement of the arm (Table 20.1).10 This measure has been shown to have adequate interrater reliability and validity to accurately measure motor function of the UE in infants younger than 1 year of age.11 Curtis and colleagues also provided a review of other measures of impairment that have been used for children with PBPI including the British Medical Research Council (BMRC) system of manual muscle testing and the modified BMRC that uses a 4-point scale (M0 to M3) to measure muscle activity.11 Older children can be examined using standard manual muscle tests and dynamometers to obtain an objective measure of muscle strength (see Chapters 2 and 5 for more information on strength

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testing in children). Patterns of movement, atypical substitution patterns, and posturing of the arm as a result of muscle imbalance and diminished or absent sensation should be documented. The Mallet classification of UE function can be used for children older than 3 to 4 years of age and has been shown to be reliable when used with children with PBPI.6, 44 The Modified Mallet (Fig. 20.4)2 expands on the original Mallet scale with the addition of a sixth item, IR with elbow flexion to the abdomen from a position of 90° shoulder abduction. The impairments present in PBPI do not include spasticity. As a result, any spasticity identified during the examination would suggest an upper motor neuron lesion warranting further diagnostic evaluation by the child’s primary physician or neurologist.

Sensation Narakas53 developed the Sensory Grading System for children with PBPI. A grade of S0 is regarded as no reaction to painful or other stimuli; S1 is reaction to painful stimuli, none to touch; S2 is reaction to touch, not to light touch; and S3 is regarded as normal sensation. Diminished or absent sensation does not necessarily correspond to the extent of motor impairment;18 therefore, care should be taken not to ignore this component of the examination in children with milder involvement. As neural regeneration proceeds, sensory loss may change to hyperesthesia before progressing through diminished or normal sensation.53 Infants or older children may experience pain or discomfort in reaction to sensory stimulation and touch. This change should be documented and may indicate progression of neural regeneration. More definitive sensory testing to touch pressure, light touch, and two-point discrimination is possible in older children, and specific areas of diminished sensibility can be mapped. Sensation may take as long as 2 years to recover.53 Pain Light palpation to the affected neck and upper shoulder may induce a pain response such as grimacing in an infant or child with PBPI. Active movement as elicited with visual tracking can provide

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further information on the influence pain may have on neck motion and visual scanning. These behavioral cues can be used to rate pain on the Face, Legs, Activity, Cry, Consolability (FLACC) scale. The FLACC rates pain on a score of 0 to 2 based on behavioral cues from five categories: face, legs, activity, cry, and consolability.49 Many clinical sites have adopted the resultant 0-to-10 FLACC scale to objectively measure pain in infants. The Wong-Faces pain rating scale77 is recommend to assess pain in older children.

Activity and Participation Developmental tests of gross and fine motor performance can be used to establish and track any delays caused by the UE impairment and dysfunction in infants and toddlers. Although no research exists on its use in PBPI, the Test of Infant Motor Performance (TIMP) may be useful for infants younger than 4 months of age postterm to document changes in motor function because it has nine activities that are scored independently for each side of the body.9 Another useful gross motor assessment standardized for use with children 0 to 18 months of age is the Alberta Infant Motor Scale (AIMS).59 Gross screens can be conducted to assess the ability the older child has to perform functional activities such as bringing the hand to mouth for eating, bringing the hand to the head for brushing hair, and sufficiently holding select tools (e.g., toothbrush) for their intended use. Taking a video of these activities would allow comparison with follow-up testing. For older children, anecdotal information about activity limitations and participation such as difficulty with ADLs, carrying a tray at school for lunch, or playing a recorder should be documented.66 Fortunately, specific measures of activity and participation for use with children with PBPI have been developed.32,41 The Brachial Plexus Outcome Measure (BPOM) and the BPOM Activity Scale were designed for children 4 to 19 years of age. The BPOM tests the quality of UE movement during completion of 11 activities aimed at measuring the key deficient functional movement patterns in children with brachial plexus palsy. Performance is graded on a 5-point ordinal scale based on task completion and visible movement quality. The Assisting Hand

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Assessment (AHA)41 and the Mini-AHA25 assess the bimanual skills of children with unilateral cerebral palsy or who sustained brachial plexus injury. The AHA is standardized for children 18 months to 12 years and the Mini-AHA for children 8 to 18 months of age. The AHA, Mini-AHA, and the BPOM are criterion-referenced tools designed to measure how effectively children with unilateral dysfunction actually use the affected hand and arm during bimanual tasks within a play session. These assessment tools could be used to measure change over time or following therapeutic or surgical intervention.

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FIG. 20.4 Modified Mallet’s classification of function in

brachial plexus palsy. Grade 0 (not shown) is no movement in the desired plane, and grade V (not shown) is full movement. (From Skirven TM, Osterman AL, Fedorczyk JM, et al.: Rehabilitation of the hand and upper extremity, ed 6, Philadelphia, 2011, Mosby.)

Surgical Management Neurosurgery For infants who are not displaying sufficient recovery of

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spontaneous or intentional affected arm motion, microsurgery is recommended. Microsurgical techniques used in the treatment of PBPI include nerve transfers, nerve grafting, neuroma dissection and removal, neurolysis (decompression and removal of scar tissue), and direct end-to-end anastomosis of the nerve ends.42,68 The technique chosen depends on the anatomic findings and surgical background of the physician.

Indications and Timing of Neurosurgery It is typically recommended that microsurgical repair of the brachial plexus be done between 3 and 8 months of age for optimal results with select clinical sites opting for surgery at an earlier age (e.g., 3 months).7,26 For infants who present with complete paralysis and Horner’s syndrome, surgery is highly recommended by 3 months of age.30 Lack of biceps function and elbow flexion are frequently used to determine which infants with incomplete neural recovery are candidates for surgery.22,23 Interestingly, Hoeksma and colleagues found that available shoulder ER and forearm supination were more useful determinants of the need for surgical intervention than elbow flexion.34 Fisher and colleagues20 also reported that lack of active elbow flexion is not as useful in determining candidates for surgery as total AMS scores are. Hence, diminished or absent active ER and forearm supination as well as total AMS score may be the most useful criteria for determining if an infant should have microsurgical repair secondary to a brachial plexus lesion.

Outcomes of Neurosurgery The results from brachial plexus microsurgery are far better in infants than in adults due to the reduced distance, better potential for neural regeneration, and the potential for central adaptation.68 Interestingly, Terzis and Kokkalis67 found that a group of infants who underwent microsurgery before 3 months had better shoulder function than those who had surgery between 4 and 6 months and demonstrated less need for secondary reconstruction. However, some authors have demonstrated that late nerve reconstruction can result in improved shoulder function and have recommended this

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option to extend the window for surgery past 3 to 8 months.26 During the immediate postoperative period after microsurgery, the limb is immobilized for about 3 weeks.42 After this period, the rehabilitation strategies of passive ROM and muscle activation are initiated. It is important to remember that the timing of muscle activation will be variable based on the type of microsurgical procedure that was done. Children who receive nerve transfers should achieve muscle activation months sooner than children who undergo nerve grafting.43 It is recommended that the therapist communicate closely with the surgeon to determine the best plan of intervention for each child. Strombeck and colleagues63 reported that for children with global palsy (C5-T1), those who had microsurgery displayed significant improvements in active shoulder motion when compared to children who did not have microsurgery. In a long-term follow-up of the same group of children who had microsurgery,64 the integrity of the EMG findings from the deltoid muscle was noted to deteriorate over time, even in those children with full recovery. However, sensibility was less affected. More recently, Lin and colleagues42 reported that neurosurgical repair that included resection and grafting (n = 92) as opposed to neurolysis only (n = 16) had better movement outcomes based on the AMS. A multicenter retrospective review was conducted to examine the outcome from ulnar or median nerve fascicle transfers to increase elbow flexion and supination.43 Reportedly, postoperatively 27/31 subjects achieved full elbow flexion and 24/31 achieved elbow flexion against gravity. In a systematic review of outcomes for children with PBPI who underwent neurosurgery, McNeely and Drake46 found most studies to be case-series designs without control groups (level III evidence). Although the findings were generally favorable, the authors determined that there was no conclusive evidence of a benefit of microsurgery over conservative management in the medical treatment of children with PBPI. Because most of the studies related to timing and outcomes of microsurgery from a case-series design, it would seem essential that randomized controlled trials (RCTs) examining the outcome of microsurgery in this population be conducted. It would be interesting to compare early versus late

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surgery, as both have been shown to be beneficial. Ideally, the RCTs should use standardized, reliable, and valid outcome measures in each of the three domains of impairment, activity, and participation.

Orthopedic Surgery The main goal of orthopedic surgery is to provide the necessary active and passive ROM to enable the patient’s hand to reach the head and mouth for meaningful ADLs. Hand and wrist reconstruction may be delayed until spontaneous recovery has plateaued and the child can fully participate in postoperative hand therapy. However, shoulder reconstruction is frequently done much earlier. Persistent muscle imbalances and soft tissue contractures in children who do not experience complete return after PBPI contribute to progressive GH joint dysplasia.24,33,75 Prolonged weakness of the shoulder external rotators with overpull of the internal rotators often leads to glenoid retroversion, flattening of the humeral head, and progressive posterior subluxation of the humeral head.24,75 The GH joint deformity is present in up to 67% of children with PBPI30,45 and is frequently associated with a shoulder IR contracture. Hoeksma and colleagues found that even mild contractures are strongly associated with shoulder deformity.33 Common shoulder surgeries include extraarticular tendon transfers of the latissimus dorsi and teres major to the rotator cuff, musculotendinous lengthenings of the pectoralis major or subscapularis, reductions of GH joint dislocations, and osteotomies.74,75 In one study, 23 children with GH deformity had transfers of the latissimus dorsi and the teres major tendons to the rotator cuff for weakness in ER, as well as lengthening of the pectoralis major or subscapularis. For these children at a mean follow-up of 31 months, active ER improved significantly on the Mallet44 (preop score of 2 and postop score of 4) and on the AMS (preop score of 3 and postop score of 6). Tendon transfers reportedly improve shoulder motion,37 and whereas some studies documented the presence of GH remodeling postoperatively,75 other postoperative studies did not find a reduction in humeral

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head subluxation and GH joint alignment.40 Derotational osteotomies are done to place the arm and hand in more functional positions for use if shoulder impairments persist > 5 to 7 years of age.76 Parents pursuing orthopedic surgery for their child should become knowledgeable of the most current research on the technique and outcome of procedures being considered. Transferring a muscle can be expected to result in the loss of one muscle strength grade; therefore, the muscle chosen for transfer should be as strong as possible before surgery. Also, clearly identified functional goals should be established before any surgery. For an excellent review of the evaluation and management of shoulder problems in infants and children with PBPI, parents and therapists are referred to Pearl58 or Gharbaoui et al.24 The rehabilitation goals after shoulder reconstruction resemble those that were outlined previously but also vary depending on the orthopedic procedure. Immediately after most shoulder procedures, stabilization with an orthotic brace or spica cast is employed for 4 to 6 weeks.76 After the stabilization period the child is often weaned off a brace during the day but may continue to wear one at night, depending on the treatment plan of the surgeon. Active motion and strengthening can usually begin after the brace or cast is removed.76 After tendon transfers, place and hold isometric strategies aid the child in activating the tendon/muscle unit in a new functional role. Isotonic exercises can follow isometrics and when cleared resistive work can begin. Joint releases and muscle-lengthening procedures require diligence with regard to maintenance of the full passive range of motion (PROM) achieved and active motion in the improved range. Strengthening exercises and the performance of functional tasks in the new range are encouraged when tolerated. As the child progresses, rehabilitation strategies that maximize performance and function will be encouraged. Assessment of postsurgical and rehabilitation outcome is ongoing to allow the program to be adjusted as needed.

Rehabilitation Goals The ideal outcome for the neonate who sustains a PBPI is complete

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return of motor control and sensation with no activity limitations or participation restrictions. It is recommended that therapy begin immediately in early infancy, but further research is needed to examine the best modes of treatment to obtain a beneficial effect. The therapy goals during the first few months after diagnosis are to support spontaneous recovery, minimize pain, prevent secondary impairments (e.g., muscle or joint contracture), promote typical movement patterns, and foster overall development. Depending on the extent of the impairment and dysfunction, increasing PROM, strength, and sensory awareness while minimizing pain during functional tasks remains the goal in the first 2 years of life. Neural regeneration and restoration of motor control may be augmented through surgical procedures. Most spontaneous recovery occurs by 9 months of age, but continued recovery may occur up to 2 years after the injury.22 Children with PBPI need ongoing monitoring of ROM, sensibility, pain, functional status, and development. At some point in the infant or toddler phase, it may become apparent that significant neural regeneration is no longer occurring, even after microsurgery. Goals would need to be revised for children who lose range or plateau in their recovery over several months. Even with the most diligent implementation of a home program, full PROM can be difficult to maintain when muscle imbalance is present. If GH joint limitations are present, the child may be a candidate for shoulder reconstruction. The desired outcomes during the toddler-to-childhood phase would be that the child develop age-appropriate self-care skills such as dressing and grooming using either extremity and participate in age-appropriate movement activities and school programs. Goals would include maintaining or increasing PROM and strength in motion critical to specific activities that the child has difficulty with or is invested in performing. For example, the child may need to increase shoulder elevation and elbow extension strength in the affected arm to shoot a basketball.

Therapeutic Procedural Interventions and Family Education 1645

During infancy, a therapist may perform a consultation before discharge from the hospital. Once cleared for assessment and treatment, the clinician can perform baseline examinations described earlier in this chapter. A home program is developed for parents featuring passive ROM to the neck and UE joints at risk for contracture. Positioning strategies and therapeutic play activities useful to maintain ROM and activate or strengthen weak muscles are also emphasized. In addition, precautions regarding regions of pain, sensory loss, or diminished sensibility are reviewed. For older children, the provision of DVDs has been shown to improve compliance with the home program.52 Anecdotally, videos or photos taken with a cell phone have also been used to reinforce home programs for infants and children of any age. Intuitively, therapeutic treatment and home programs seem beneficial for this population whether they progress without surgery or require surgical intervention. However, high-quality evidence in support of various intervention strategies is warranted.

Active Movement The objective of the rehabilitation program is to facilitate the highest functional outcome possible for the infant or child, particularly in regard to prehensile skills as they relate to meaningful, developmentally appropriate activities. Simple strategies often work best. For example, while being held on a parent’s lap, placement of a finger into the palm of a young infant’s hand while the elbow/forearm is supported in flexion/neutral supination often encourages activation of the grasp reflex or an intentional grasp. This action can potentially foster activation of weak arm muscles such as the biceps. The use of positioning strategies in clinic and home programs is vital early in rehabilitation. Strategic positioning in sidelying, prone, and supine positions can aid the activation of weak muscles in young infants. Lying on the affected side (with the head supported in neutral) encourages isolated elbow flexion, whereas lying on the unaffected side encourages shoulder motion. Given the high risk for muscle and GH joint contracture, it is important to prevent sustained shoulder

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IR of the affected arm (as feasible) when sidelying on the unaffected side. When prone, the infant who does not yet prop on the elbows can stretch the GH joint into ER and horizontal abduction while resting in this position. Alternatively, chest support provided with a rolled-up receiving blanket can allow the infant to prone prop on the elbows when this is developmentally appropriate and tolerated by the affected shoulder. This supported weight-bearing position can encourage activation of the shoulder musculature and neck/trunk extensors. When the infant is placed in the supine position, it is important to place the elbows and hands of the both arms higher than the shoulders to prevent posturing into shoulder extension and to allow greater ease of arm movement against gravity. During reaching activities, careful attention to the scapula is critical because paralysis of the rhomboids and contracture of muscles that link the humerus to the scapula interfere with the normal 6:1 humeral-scapular rhythm in the first 30° of shoulder movement.36 The scapula can be manually stabilized as the shoulder is assisted in active elevation while the child reaches for toys. Alternatively, strategically setting up the environment to allow active shoulder movement with gravity minimized can allow for recruitment of weaker muscles and prevent atypical movements from occurring. For young infants the sidelying position allows for shoulder flexion with gravity minimized. For older infants and children, kinesiotaping73 may be one method to foster scapular stabilization from any position. The published case study by Walsh73 reported that kinesiotaping and exercise seemed to facilitate muscular support to position the humeral head in the glenoid fossa. Despite the positive outcomes from this case study, further research on the specific benefits of kinesiotaping and exercise for scapular stabilization is warranted. In clinic and home programs, one must be creative to provide opportunities for activation of weak muscles during prehensile and functional tasks that minimize gravity and prevent substitution patterns. The number of motor behaviors and tasks that need emphasis in this population of children are endless and include hand-to-mouth tasks, hand-to-hand transfer of objects, weight shifting in prone prop and quadruped, tailor sitting with hands

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propped anteriorly or posteriorly, transitional movements, creeping, and reach-to-grasp behaviors. Simple place and hold isometric exercises are an efficient way to initiate muscle activation in weak musculature. Manual guidance to aid in the accomplishment of tasks is also useful but can be replaced with environmental set-up to ease task completion and encourage selfgenerated movement as muscle strength improves. Fig. 20.5A illustrates a nonfunctional position that an infant with a classic C5C6 injury may assume. Fig. 20.5B demonstrates how manually guiding the shoulder into flexion and ER allows the infant to experience a more typical, functional movement pattern and obtain more appropriate sensory information through an open palm. This action can be followed by task practice without manual guidance by setting up the environment to allow the production of selfgenerated motion and reinforce motor learning. Because active shoulder ER and forearm supination are often weak or absent in children with C5-C6 injuries, toys should be presented strategically in different areas of the workspace to encourage variable muscle activation patterns and different prehensile skills. Intervention strategies designed to augment muscle activation of weak muscles through visual-auditory biofeedback are emerging and showing promise as rehabilitation strategies.17 In any position, gravity or toys held in the hand can provide resistance as muscles gain strength for prehensile behaviors. At times, the unaffected arm may need to be gently restrained when encouraging the child to use the affected arm. Tactile stimulation or facilitation of the weak muscles with gentle joint compression in weight bearing, biofeedback, or electrical stimulation can also encourage activation of weak muscles. Typical posture and developmental activities may be compromised as a result of PBPI. Transitional movement to a seated position may always be done from one (i.e., the unaffected) side, and as a result, posture of the trunk may be asymmetrical and balance reactions may be delayed on the affected side. To address reliance on the unaffected side, movement into sitting and other transitional movements can be practiced from the affected side using manual guidance and facilitation as needed. When sitting is achieved, challenging protective reactions to the affected side can

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facilitate shoulder abduction. Typical bilateral UE use will likely be delayed and often needs to be emphasized. Opportunities for the child to experience and practice symmetrical two-handed activities such as tossing and catching large balls can be encouraged as well as the performance of asymmetrical tasks that require stabilization with one hand manipulating the other. Intervention strategies provided in the context of purposeful tasks versus the performance of exercises are also motivating for children. For example, strengthening of the shoulder flexors could be done by asking the child to lift 10 toy people up and into a dollhouse (purposeful) instead of performing 10 repetitions of shoulder flexion (exercise). In the older child who has not experienced full return of motor function, adaptations and devices to assist in ADLs and recreational activities should be made available for the child’s consideration. Swimming programs are often recommended at this time because they engage both UEs and are often enjoyable for children. The use of botulinum toxin has been found to improve active motion in muscles antagonistic to those injected with the toxin.5 Arad and colleagues5 examined the short- and long-term outcome after Botox injections to the shoulder internal rotators and triceps musculature to improve shoulder ER and elbow flexion/supination in children who had not undergone microsurgery. The study included children who first received an injection at a mean age of 30 to 36 months of age. Based on AMS scores the authors found that shoulder ER significantly improved after 1 month yet decreased by 1 year of age. Elbow flexion/supination did not initially improve, but after 1 year a significant improvement was noted based on AMS scores. Only the elbow/forearm motions were sustained over time. The authors caution that it is important to determine whether the cause of the muscle imbalance is differential muscle weakness or co-contraction.

Range of Motion Passive ROM and stretching can be done in isolation, during positioning, or in the context of typical developmental activities by parents and clinicians. Goniometric measures of UE PROM should

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be performed weekly or biweekly and the clinic/home program adjusted based on the findings. Maintaining ROM is important, as up to 65% of children with incomplete recovery of PBPI have been found to have limited ROM at the shoulder.35 Stretching should never cause pain and should always be gentle. Although passive ROM is encouraged, overstretching can be harmful to joints and joint capsules that are already unstable. Placing the child’s arm in optimal positions is a time-efficient way to stretch soft tissue restrictions because this can be done during feeding, carrying, or positioning in a car seat. As the child’s arm relaxes during sleep, even more passive range can be attempted.

FIG. 20.5 A, Infant with C5-C6 brachial plexus injury

trying to prop and reach. B, Infant assisted to reach and grasp with manual guidance.

Prevention of scapulohumeral adhesions is an important goal of therapeutic intervention. The infant or child can do passive shoulder ROM in isolation as tolerated. As mentioned previously, stabilization of the scapula is critical, as shown in Fig. 20.3A-C. Again, the reader is encouraged to review the article by Gharbaoui and colleagues,24 which introduces five critical stretches that should be used with children to prevent GH joint contractures or encourage an increase in passive ROM. During reaching tasks, the scapula can be stabilized or restrained

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to stretch muscles that link the scapula to the humerus during the first 30° of abduction. As mentioned previously, Kinesiotape can be used to foster scapular stabilization during tasks performed at home.73 Beyond 30°, the scapula must rotate along with humeral ER to avoid harmful impingement of soft tissues on the acromion process, thus, rotation should be encouraged. For a visual demonstration of scapulohumeral rhythm, the reader is encouraged to search for appropriate videos online by using the search term scapulohumeral rhythm.

Sensory Awareness Diminished sensibility can lead to neglect or even self-abuse of the affected arm.45 Parents must be cautioned about the risk of injury to body areas where sensation is compromised and should watch for any signs of self-mutilation such as biting an insensate area. Enlisting the participation of the affected limb in play activities such as holding a bottle allows the child to perceive the extremity as being a purposeful part of the body. Sensory perception can be enhanced by placing objects of different textures and temperatures in the hand, playing games such as finding toys under sudsy water or in rice with the affected hand, or in the case of older children having them name familiar objects placed in their hand while blindfolded. Parents themselves should be encouraged not to neglect the arm but to caress and play with it as usual while holding or guiding it through movement patterns that need reinforcement.

Orthotics Intermittent use of orthotics for the wrist and fingers may sometimes be indicated. Wrist orthoses may preserve the integrity of the wrist and finger tendons/muscles until motor function returns. Resting night orthoses can help prevent wrist and finger/thumb contractures by providing a low-load prolonged stretch to the tissues. A dorsal or volar wrist orthotic can maintain the wrist in neutral or partial extension yet free the fingers to grasp and release toys. To prevent shoulder adduction and IR contractures, a “statue of liberty” orthotic or an abduction orthotic

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has been suggested. However, the child may not tolerate this position for long periods or may not tolerate it at all. A semi-stretchable strap (e.g., Fabrifoam) that wraps around the hand/forearm and extends from the palm to above the elbow can be used to foster forearm supination. For young infants this strap can be ½-inch wide, and for older infants and children it can be ¾- to 1inch wide. This type of strap is often worn during waking hours as tolerated with frequent breaks to induce a bias of forearm supination during activities. If the strap does not sufficiently position the forearm, a plastic supination orthotic can be fabricated to use with an additional wide supination strap instead. Restraining casts, splints, or slings can be used on the unaffected extremity to successfully encourage use of the affected arm and hand as a form of forced use.8 If shaping activities for the affected arm and hand are employed while the restraint is on the unaffected arm, the approach would be regarded as constraint-induced movement therapy (CIMT). In the case study reported by Berggren and Baker,8 the child had to use his affected arm to bring a toy to his mouth or self-feed when elbow flexion was restrained on the unaffected side. It is recommended that the restraint be used for brief periods only during the day with frustration levels monitored carefully. It is important to remember that some children will not tolerate any form of restraint, particularly if it is unrealistic that the affected arm can perform functional activities with some independence.

Electrical Stimulation As introduced previously, Berggren and Baker8 published a retrospective case report of an infant/toddler who sustained a right global PBPI and presented with Horner’s syndrome. At 6 weeks of age he received sensory electrical stimulation (ES) (100 µs pulse duration) at submotor threshold until motor recovery was noted. At 3 months of age he underwent microsurgical repair of the brachial plexus. At 11 months of age, reciprocal ES (150 µs pulse duration with trace [1/5] level of contraction) was initiated to foster efficient motor recruitment and active movement. CIMT was employed over four separate time periods during his first 2 years of life. The

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outcome based on scores from the AMS, Modified Mallet, and the AHA changed after intervention with significant increases in AHA scores after episodes of CIMT. Okafor and colleagues55 reported from a small study (eight children per group) that ES paired with conventional physical therapy improved active shoulder abduction and elbow flexion when compared with conventional therapy after 6 weeks. Further research is recommended on the use of ES as an adjunct to increase muscle activation in this population of infants and children.

Outcomes The information available on long-term outcomes in adults with a history of PBPI suggests that disability in daily activities can be lifelong and frequently associated with orthopedic disorders and pain. Strombeck and colleagues64 evaluated long-term changes in function in a group of 70 participants aged 7 to 20 years. Of this group, 43% had improvements in shoulder function, whereas about 50% had decreased active elbow extension at follow-up. Interestingly, 75% of participants perceived they had no difficulty with ADLs. In another study of 36 adults aged 21 to 72 years with PBPI, Partridge and Edwards57 found that 60% had painful arthritic joints and 27% had scoliosis. In this group, 80% reported trouble with dressing, 55% with bathing, and 66% with cooking. Furthermore, 33 of 36 participants surveyed (91%) reported experiencing pain, with 28 of those 33 reporting that their pain was “getting worse.” Outcomes research using health-related quality-oflife and participation measures would be extremely helpful for therapists and parents to aid long-term planning for children with PBPI.

Prevention Although the risk factors are known, the positive predictive values for identifying PBPI before birth are lower than 15%.56 Despite this observation, the goal of prevention continues, thus, risk factors continue to be investigated.19,47,48 Modified delivery practices such as cesarean section should be considered when there are multiple

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risk factors for an infant to present with shoulder dystocia during the birth process.

Summary A unilateral traction injury secondary to shoulder dystocia is the most common cause of PBPI.29 Infants with PBPI present with impairments of flaccidity or reduced muscle activity that are readily apparent at birth. Therapists and parents can employ strategies to foster early activation of partially denervated muscles and an increase in sensory awareness. It is essential that methods are used to maintain muscle extensibility and joint ROM while reinforcing motor recovery, function, and the acquisition of age-appropriate developmental behaviors. Microsurgery may be considered if substantial spontaneous recovery is not apparent by the age of 3 to 6 months. 28 Shoulder reconstruction can be pursued in a timely manner for cases presenting with GH joint dysplasia. Long-term outcome studies suggest that PBPI affects ADLs and causes disability in adulthood with minimal effects on social participation. As intervention strategies expand, perhaps disability can be reduced and therefore better partner with the positive aspects of social participation.

Case Scenario on Expert Consult The case related to this chapter presents a child with PBPI, and a video illustrates the outcomes for a child who underwent microsurgical intervention as an infant.

References 1. Åberg K, Norman M, Ekéus C. Preterm birth by vacuum extraction and neonatal outcome: a population-based cohort study. BMC Pregnancy Childbirth. 2014;14:42. 2. Abzug J.M, Kozin S.H. Evaluation and management of brachial plexus birth palsy. Orthop Clin N Am. 2014;45:225– 232.

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3. Al-Qattan N.M, Clarke H.M, Curtis C.G. Klumpke’s birth palsy: does it really exist? J Hand Surg Br. 1995;20B:19–23. 4. American Physical Therapy Association, . Guide to physical therapist practice. ed 2. American Physical Therapy Association; 2001 81:9-744. 5. Arad E, Stephens D, Curtis C.G, et al. Botulinum toxin for the treatment of motor imbalance in obstetrical brachial plexus palsy. Plast Reconstr Surg. 2013;131:1307–1315. 6. Bae D.S, Waters P.M, Zurakowski D. Reliability of three classification systems measuring active motion in brachial plexus birth palsy. J Bone Joint Surg. 2003;85A:1733–1738. 7. Bain J.R, DeMatteo C, Gjertsen D, et al. Navigating the gray zone: a guideline for surgical decision making in obstetrical brachial plexus injuries. J Neurosurg Pediatr. 2009;3:173–180. 8. Berggren J, Baker L.L. Targeted strategies using electrical stimulation and constraint induced movement therapy for muscle activation and active movement in neonatal brachial plexus palsy: a case review. J Hand Ther. 2015;28:217–220. 9. Campbell S.K, Wright B.D, Linacre J.M. Development of a functional movement scale for infants. J Applied Measure. 2002;3:191–204. 10. Clarke H.M, Curtis C.G. An approach to obstetrical brachial plexus injuries. Hand Clin. 1995;11:563–580. 11. Curtis C, Stephens D, Clarke H.M, et al. The active movement scale: an evaluative tool for infants with obstetrical brachial plexus injury. J Hand Surg Am. 2002;27A:470–478. 12. Dayanidhi S, Orlin M, Kozin S, et al. Scapular kinematics during humeral elevation in adults and children. Clin Biomech. 2005;20:600–606. 13. DiTaranto P, Campagna L, Price A.E. Outcome following nonoperative treatment of brachial plexus birth injuries. J Child Neurol. 2004;19:87–90. 14. Dodds S.D, Wolfe S.W. Perinatal brachial plexus palsy. Curr Opin Pediatr. 2000;12:40–47. 15. Duff S.V, Dayanidhi S, Kozin S.H. Asymmetrical shoulder kinematics in children with brachial plexus birth injury. Clin Biomech [Bristol, Avon]. 2007;22:630–638.

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16. Duff S.V, DeMatteo C. Clinical assessment of the infant and child following perinatal brachial plexus injury. J Hand Ther. 2015;28:126–133. 17. Duff S.V, Sargent B, Kutch J.J, et al. Self-generated feedback to increase muscle activation in infancy. Poster presentation at the Combined Sections Meeting of the American Physical Therapy Association. February 2015. 18. Eng G.D, Koch B, Smokvina M.D. Brachial plexus palsy in neonates and children. Arch Phys Med Rehabil. 1978;59:458– 464. 19. Executive summary. neonatal brachial plexus palsy. Report of the American College of Obstetricians and Gynecologists’ Task Force on Neonatal Brachial Plexus Palsy. Obstet Gynecol. 2014;123:902–904. 20. Fisher D.M, Borschel G.H, Curtis C, et al. Evaluation of elbow flexion as a predictor of outcome in obstetrical brachial plexus palsy. Plast Reconstruct Surg. 2007;120:1585– 1590. 21. Foad S.L, Mehlman C.T, Ying J. The epidemiology of neonatal brachial plexus palsy in the United States. J Bone Joint Surg Am. 2008;90:1258–1264. 22. Gilbert A. Long-term evaluation of brachial plexus surgery in obstetrical palsy. Hand Clin. 1995;11:583–593. 23. Gilbert A, Tassin J.L. [Surgical repair of the brachial plexus in obstetrical paralysis]. Chirurgie. 1984;110:70–75. 24. Gharbaoui I.S, Gogola G.R, Aaron D.H, et al. Perspectives on glenohumeral joint contractures and shoulder dysfunction in children with perinatal brachial plexus palsy. J Hand Ther. 2015;28:176–183. 25. Greaves S, Imms C, Dodd K, KrumlindeSundholm L. Development of Mini-Assisting Hand Assessment: validation of the play session and item generation. Dev Med Child Neurol. 2013;55:1030–1037. 26. Grossman A.L, Ditaranto P, Yaylali I, et al. Shoulder function following late neurolysis and bypass grafting for upper brachial plexus birth injuries. J Hand Surg Br. 2004;29B:356–358. 27. Habechian F.A, Fornasari G.G, Sacramento L.S, et

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al. Differences in scapular kinematics and scapulohumeral rhythm during elevation and lowering of the arm between typical children and healthy adults. J Electromyogr Kinesiol. 2014;24:78–83. 28. Hale H.B, Bae D.S, Waters P.M. Current concepts in the management of brachial plexus birth palsy. J Hand Surg. 2010;35A:322–331. 29. Hansen A, Chauhan S.P. Shoulder dystocia: definitions and incidence. Sem Perinatol. 2014;38:184–188. 30. Haerle M, Gilbert A. Management of complete obstetrical brachial plexus lesions. J Pediatr Ortho. 2004;24:194–200. 31. Hervey-Jumper S.L, Justice D, Vanaman M.M, et al. Torticollis associated with neonatal brachial plexus palsy. Pediatr Neurol. 2011;45:305–310. 32. Ho E.S, Curtis C.G, Clarke H.M. The brachial plexus outcome measure: development, internal consistency, and construct validity. J Hand Ther. 2012;25:406–416. 33. Hoeksma A.F, ter Steeg A.M, Dijkstra P, et al. Shoulder contracture and osseous deformity in obstetrical brachial plexus injuries. J Bone Joint Surg Am. 2003;85A:316–322. 34. Hoeksma A.F, ter Steeg A.M, Nelissen R.G, et al. Neurological recovery in obstetric brachial plexus injuries: an historical cohort study. Dev Med Child Neurol. 2004;46:76–83. 35. Hoeksma A.F, Wolf H, Oei S.L. Obstetrical brachial plexus injuries: incidence, natural course and shoulder contracture. Clin Rehabil. 2000;14:523–526. 36. Inman V.T, Saunders J.D.M. Observations on the function of the clavicle. Calif Med. 1946;65:158. 37. Jennette R.J, Tarby T.J, Krauss R.L. Erb’s palsy contrasted with Klumpke’s and total palsy: different mechanisms involved. Am J Obstet Gynecol. 2002;186:1216–1220. 38. Justice D, Rasmussen L, DiPietro M, et al. Prevalence of posterior shoulder subluxation in children with neonatal brachial plexus palsy after early full passive range of motion exercises. PMR. 2015:1– 8. doi: 10.1016/j.pmrj.2015.05.013 Accessed September 1, 2015.

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39. Kozin S.H. The evaluation and treatment of children with brachial plexus palsy. J Hand Surg. 2011;36A:1360–1369. 40. Kozin S.H, Chafetz R.S, Shaffer A, et al. Magnetic resonance imaging and clinical findings before and after tendon transfers about the shoulder in children with residual brachial plexus palsy: a 3-year follow-up study. J Pediatr Orthop. 2010;30:154–160. 41. KrumlindeSundholm L, Holmefur M, Kottorp A, Eliasson A.-C. The Assisting Hand Assessment: current evidence of validity, reliability, and responsiveness to change. Dev Med Child Neurol. 2007;49:259–264. 42. Lin J.C, Schwentker-Colizza A, Curtis C.G. Final results of grafting versus neurolysis in obstetrical brachial plexus palsy. Plastic Reconstruct Surg. 2009;123:939–948. 43. Little K.J, Zlotolow D.A, Soldado F, et al. Early functional recovery of elbow flexion and supination following median and/or ulnar nerve fascicle transfer in upper neonatal brachial plexus palsy. J Bone Joint Surg Am. 2014;96:215–221. 44. Mallet J. Primaute du traitement de l’epaule—methode d’expresion des resultants. Rev Chir Orthop. 1972;58S:166– 168. 45. McCann M.E, Waters P, Goumnerova L.C. Self-mutilation in young children following brachial plexus birth injury. Pain. 2004;110:123–129. 46. McNeely P.D, Drake J.M. A systematic review of brachial plexus surgery for birth-related brachial plexus injury. Pediatr Neurosurg. 2003;38:57–62. 47. Medina L.S, Yaylali I, Zurakowski D, et al. Diagnostic performance of MRI and MR myelography in infants with a brachial plexus birth palsy. Pediatr Radiol. 2006;36:1295– 1299. 48. Mehta H, Sokol R.J. Shoulder dystocia: risk factors, predictability, and preventability. Sem Perinatol. 2014;38:189–193. 49. Merkel S, Voepel-Lewis T, Malviya S. Pain assessment in infants and young children: FLACC scale. Am J Nurse. 2002:10255–10258.

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50. Michelow B.J, Clarke H.M, Curtis C.G, et al. The natural history of brachial plexus palsy. Plast Reconstruct Surg. 1994;93:675–680. 51. Mollberg M, Hagber H, Bager B, et al. High birthweight and shoulder dystocia: the strongest risk factors for obstetrical brachial plexus palsy in a Swedish population-based study. Acta Obstet Gynecol Scand. 2005;84:654–659. 52. Murphy K.M, Rasmussen L, Hervey-Jumper S.L, et al. An assessment of the compliance and utility of a home exercise DVD for caregivers of children and adolescents with brachial plexus palsy: a pilot study. PMR. 2011;4:190–197. 53. Narakas A.O. Obstetrical brachial plexus injuries. In: Lamb D.W, ed. The hand and upper limb. the paralyzed hand. vol. 2. Edinburgh, Scotland: Churchill Livingstone; 1987:116. 54. Noetzel M.J, Park T.S, Robinson S, et al. Prospective study of recovery following neonatal brachial plexus injury. J Child Neurol. 2001;16:488–492. 55. Okafor U.A, Akinbo S.R, Sokunbi O.G, et al. Comparison of electrical stimulation and conventional physiotherapy in functional rehabilitation in Erb’s palsy. Nigerian Quarter J Hosp Med. 2008;18:202–205. 56. Ouzounian J. Risk factors for neonatal brachial plexus palsy. Sem Perinatol. 2014;38:219–221. 57. Partridge C, Edwards S. Obstetric brachial plexus palsy: increasing disability and exacerbation of symptoms with age. Physiother Res Int. 2004;9:157–163. 58. Pearl M. Shoulder problems in children with brachial plexus birth palsy: evaluation and management. J Am Acad Ortho Surg. 2009;17:242–254. 59. Piper M.C, Darrah J. Motor assessment of the developing infant. Philadelphia: WB Saunders; 1994. 60. Pondaag W, Malessy M.J, van Dijk J.G, et al. Natural history of obstetric brachial plexus palsy: a systematic review. Dev Med Child Neurol. 2004;46:138–144. 61. Pöyhiä T.H, Lamminen A.E, Peltonen J.I, et al. Brachial plexus birth injury: US screening for glenohumeral joint instability. Radiology. 2010;254:253–260.

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62. Shepherd R.B. Brachial plexus injury. In: Campbell S.K, ed. Pediatric neurologic physical therapy. ed 2. New York: Churchill Livingstone; 1991:101– 130. 63. Strombeck C, KrumlindeSundholm L, Forssberg H. Functional outcome at 5 years in children with obstetrical brachial plexus palsy with and without microsurgical reconstruction. Dev Med Child Neurol. 2000;42:148–157. 64. Strombeck C, Krumlinde-Sundholm L, Remalh S, et al. Long-term follow-up of children with obstetric brachial plexus I; functional aspects. Dev Med Child Neurol. 2007;49:198–203. 65. Sunderland S. Nerves and nerve injuries. In: Green D.P, Hotchkiss R.N, Pederson W.D, et al., eds. Green’s operative hand surgery. ed 4. New York: Churchill Livingstone; 1999:750–779. 66. Sundholm L.K, Eliasson A.C, Forssberg H. Obstetric brachial plexus injuries: assessment protocol and functional outcome at age 5 years. Dev Med Child Neurol. 1998;40:4–11. 67. Terzis J.K, Kokkalis Z.T. Primary and secondary shoulder reconstruction in obstetric brachial plexus palsy. Injury. 2008;39S:S5–S14. 68. Tse R, Kozin S.H, Malessy M.J, Clark H.M. International Federation of Societies for Surgery of the Hand Committee Report: the role of nerve transfers in the treatment of neonatal brachial plexus palsy. J Hand Surg Am. 2015;40:1246–1259. 69. Vanderhave K.L, Bovid K, Alpert H, et al. Utility of electrodiagnostic testing and computed tomography myelography in the preoperative evaluation of neonatal brachial plexus palsy. J Neurosurg Pediatr. 2012;9:283–289. 70. van Dijk J.G, Pondaag W, Buitenhuis S.M, et al. Needle electromyography at 1 month predicts paralysis of elbow flexion at 3 months in obstetric brachial plexus lesions. Dev Med Child Neurol. 2012;54:753–758. 71. van Ouwerkerk W.J.R, van der Sluijs J.A, Nollet T, et al. Management of obstetric brachial plexus lesions: state of

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the art and future developments. Childs Nerv Syst. 2000;16:638–644. 72. Vathana T, Vathana T, Rust S, et al. Intraobserver and interobserver reliability of two ultrasound measures of humeral head position in infants with neonatal brachial plexus palsy. J Bone Joint Surg Am. 2007;89:1710–1715. 73. Walsh S.F. Treatment of a brachial plexus injury using kinesiotape and exercise. Physiother Theory Pract. 2010;26:490–496. 74. Waters P.M. Comparison of the natural history, the outcome of microsurgical repair, and the outcome of operative reconstruction in brachial plexus birth palsy. J Bone Joint Surg Am. 1999;81:649–659. 75. Waters P.M, Bae D.S. The early effects of tendon transfers and open capsulorrhaphy on glenohumeral deformity in brachial plexus birth palsy. J Bone Joint Surg Am. 2008;90:2171–2179. 76. Waters P.M, Bae D.S. The early effects of tendon transfers and open capsulorrhaphy on glenohumeral deformity in brachial plexus birth palsy. Surgical technique. J Bone Joint Surg Am. 2009;91(Suppl 2):213–222. 77. Wong D. Reference manual for the Wong-Baker FACES pain rating scale. Duarte, CA: Mayday Pain Resource Center; 1995. 78. Wolf H, Hoeksma A.F, Oei S.L, et al. Obstetric brachial plexus injury: risk factors related to recovery. Eur J Obstet Gyn R B. 2000;88:133–138. 79. Yang L.J. Neonatal brachial plexus palsy: management and prognostic factors. Sem Perinatol. 2014;38:222–234.

Suggested Readings Bae D.S, Waters P.M, Zurakowski D. Reliability of three classification systems measuring active motion in brachial plexus birth palsy. J Bone Joint Surg. 2003;85A:1733–1738. Bain J.R, DeMatteo C, Gjertsen D, et al. Navigating the gray zone: a guideline for surgical decision making in obstetrical brachial plexus injuries. J Neurosurg Pediatr. 2009;3:173–180.

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Clarke H.M, Curtis C.G. An approach to obstetrical brachial plexus injuries. Hand Clin. 1995;11:563–580. Duff S.V, DeMatteo C. Clinical assessment of the infant and child following perinatal brachial plexus injury. J Hand Ther. 2015;28:126–133. Ho E.S, Curtis C.G, Clarke H.M. The brachial plexus outcome measure: development, internal consistency, and construct validity. J Hand Ther. 2012;25:406–416. Krumlinde-Sundholm L, Holmefur M, Kottorp A, Eliasson A.-C. The Assisting Hand Assessment: current evidence of validity, reliability, and responsiveness to change. Dev Med Child Neurol. 2007;49:259–264. Mollberg M, Hagber H, Bager B, et al. High birthweight and shoulder dystocia: the strongest risk factors for obstetrical brachial plexus palsy in a Swedish population-based study. Acta Obstet Gynecol Scand. 2005;84:654–659. Vanderhave K.L, Bovid K, Alpert H, et al. Utility of electrodiagnostic testing and computed tomography myelography in the preoperative evaluation of neonatal brachial plexus palsy. J Neurosurg Pediatr. 2012;9:283–289. van Dijk J.G, Pondaag W, Buitenhuis S.M, et al. Needle electromyography at 1 month predicts paralysis of elbow flexion at 3 months in obstetric brachial plexus lesions. Dev Med Child Neurol. 2012;54:753–758. Waters P.M, Bae D.S. The early effects of tendon transfers and open capsulorrhaphy on glenohumeral deformity in brachial plexus birth palsy. J Bone Joint Surg Am. 2008;90:2171–2179. Yang L.J.-S. Neonatal brachial plexus palsy: management and prognostic factors. Sem Perinatol. 2014;38:222–234.

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Spinal Cord Injury Christina Calhoun Thielen, Therese Johnston, and Christin Krey

Acquired lesions of the spinal cord occur far less commonly in children than in adults, but the unique aspects of growth and development can make treatment of the child with spinal cord injury (SCI) a challenge for pediatric physical therapists. The rehabilitation process may take years because the young child requires time to achieve adequate strength, adult body proportions, developmental milestones, and cognitive skills for maximal independence. The child who is not skeletally mature may develop orthopedic problems during growth, which may result in altered function. Direct intervention, monitoring skill acquisition, education, and assessing equipment needs are important roles for the physical therapist. This chapter describes the pathophysiology, resulting neurologic changes, changes in body functions and structures, and their impact on activity and participation of children with SCI. Examination, prognosis, goals, and outcomes and physical therapy intervention for the child with SCI are discussed.

Background Information Epidemiology Spinal cord injuries account for a small number of all injuries sustained by children; however, the consequences of SCI can be devastating. The overall incidence of pediatric SCI in the United

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States is approximately 1.99 cases per 100,000 children and adolescents.141 Additionally, approximately 5% of the SCIs sustained each year occur in children 15 and younger, although this estimate is likely below the actual percentage due to limited availability of data.33 From birth to 5 years of age, the ratio of males to females affected by SCI is fairly equal. With increasing age, the ratio of males to females increases to approximately 4:1.32,33,41,141 Motor vehicle crashes (MVCs), sports, falls, and violence are the leading causes of traumatic SCI; however, this varies as a function of age (Table 21.1).32-34,41,141,143 MVCs are the most prevalent cause in all age groups, but violence, sports, and falls increase as the cause with increasing age. Injuries sustained due to sports are greatest in the 13- to 15-year-old age group.14,32,34,41 Child abuse accounts for some cases of SCI, but the frequency of abuse as a cause is unknown.34 When an MVC is the cause of injury, a high cervical lesion usually occurs in children younger than 4 years of age, with continued risk for cervical level injuries through age 8.41,43 Lap belt injuries tend to occur in children between 5 to 8 years of age. Lap belt injuries frequently occur when a child transitions too early from a car seat to sitting in a passenger seat, causing the lap portion of a lap/shoulder seat belt to ride high on the abdomen. Spinal injury from a lap belt in an MVC is typically at the thoracolumbar junction, and significant retroperitoneal injury also occurs.59,120 Teens injured as a result of an MVC typically sustain cervical level injuries. Whether a child sustains an injury leading to tetraplegia verses paraplegia and the severity (complete versus incomplete) varies with age.32,41 If a child is injured prior to the age of 12, about two thirds are paraplegic and a complete injury is sustained. In the adolescent population, approximately half of those injured are paraplegic and slightly more than half sustain a complete injury. It is difficult to classify an injury in a child age 4 or younger due to the reliability of the examination used to classify SCI; therefore, limited data are available for the 0 to 4 age group.105 This topic will be discussed in more detail later in the chapter. Nontraumatic causes of SCI in children include tumor (predominantly intramedullary tumors152), transverse myelitis,

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epidural abscess, arteriovenous malformation, multiple sclerosis, and spinal cord infarction due to thromboembolic disorders. Developmental anomalies of the cervical vertebrae can place the spinal cord at increased risk of injury. These anomalies include instability of the atlantoaxial joint, as seen in Down syndrome, juvenile rheumatoid arthritis, os odontoideum (a congenital failure of fusion of the odontoid process to the C2 vertebral body), and dysplasia of the base of the skull or upper cervical vertebrae, as seen in achondroplasia. The long-term survival rates of children with an SCIs range from 83% of normal life expectancy with an incomplete injury to 50% with a high cervical injury without ventilator dependency,127 with primary mortality resulting from respiratory complications.3 Mortality overall seems to follow a different pattern than for individuals with adult-onset SCI as well as the general population of comparable age.3 A small-scale study suggests that recovery of neurologic function occurs more frequently in pediatric patients than in adults and that recovery can be identified for a longer period of time after injury.148

Prevention Proper use of vehicle restraints, water safety instruction, and preparticipation sports physical examinations are important measures for preventing traumatic SCI in children. Lap seat belts must be placed across the pelvis, not across the waist, and shoulder harnesses should cross the clavicle, not the neck, to avoid lumbar or cervical spine injury in the event of a collision. Children should use a booster seat until the lap belt and shoulder harness fit correctly. This typically occurs when the child is about 4 feet 9 inches tall, 8 to 12 years old, or 80 pounds. Once a child is old enough and tall enough to transition to a standard seat, both a lap and shoulder belt should be used and the child restrained in the rear seat until at least 13 years of age. According to the National Highway Transportation and Safety Administration (NHTSA), American Academy of Pediatrics, and federal law, infants and toddlers should remain in a rear-facing-only seat or rear-facing convertible car seat until at least 2 years of age or until they reach the highest weight or height

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determined by the car seat manufacturer. Car seat manufacturers have been producing car seats rated to a higher weight in the rearfacing position, as it has been suggested that remaining in the rearfacing position for as long as possible is preferred. Once a child has outgrown a rear-facing weight or height limit, a forward-facing car seat with a harness should be used as long as possible, again to the highest weight and height allowed by the car seat’s manufacturer. This again is reflected in the manufacturing of combination car seats with harnesses rated to higher weights. It should also be noted that proper car seat installation as well as proper harness snugness and retainer clip placement is imperative to properly restrain an infant, toddler, or child in an appropriate vehicle safety system (http://www.safercar.gov/parents/CarSeats/Car-Seat-Safety.htm). TABLE 21.1 Causes of Pediatric Spinal Cord Injury Related to Age

Adapted from Vogel LC, Betz RR, Mulcahey MJ: Spinal cord injuries in children and adolescents. In Verhaagen J, McDonald JW III, editors: Handbook of clinical neurology, vol 109, Amsterdam, 2012, Elsevier, Chapter 8, pp 131-148.

Organizations such as Safe Kids Worldwide (www.safekids.org) and the Center for Childhood Injury Prevention Studies (CChIPS) carry missions to reduce accidental childhood injury through research, public policy, and education and awareness. By determining preventable risks to children, programs are developed to educate adults and children about how and why injuries happen and how they can be prevented. Many health care facilities and schools utilize the programs developed by these organizations to raise awareness and educate the public. Some of these programs include tips on how to prevent injuries and be safe in motor vehicles with restraints, as pedestrians, and during sports, as well

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as instructions on water safety (https://injury.research.chop.edu/center-child-injury-preventionstudies-cchip). Because children with Down syndrome have some risk of atlantoaxial instability, the American Academy of Pediatrics36 recommends screening radiographs to assess cervical spine stability for this population of children between the ages of 3 and 5 years. This radiographic screening is most helpful for children who may participate in sports or who are symptomatic. The Committee on Genetics135 also recommends that children with achondroplasia be encouraged to participate in activities such as biking or swimming but to avoid gymnastics and contact sports because of the potential for neck or back injury.

Advances in Recovery Researchers in spinal cord regeneration are focusing on neuroprotection, neuroplasticity, neuroregeneration, and cellular transplant therapy. Many have tried pharmacologic interventions to halt the chain of secondary events producing neural damage and to protect compromised but viable cells. Antioxidants, free radical scavengers, opiate antagonists, vitamins, thyrotropin-releasing hormone, and calcium channel blockers are a few of the agents that have been tested.119 The only current practice is the administration of methylprednisolone (corticosteroids) in the acute phase to decrease cord edema and limit cell death. High doses, administered within the first 8 hours and continued for 24 to 48 hours, have been shown to slightly enhance motor recovery in humans.17-19,62,83 Data are lacking on the effects of methylprednisolone in the pediatric population. There have been no pediatric-specific studies, and past studies have had a minimal number of subjects in the 13- to 19years-of-age category.19 Currently, the use of the steroid overall is being questioned,66,67,110,128 and it is even proposed to cause acute myopathy when administered.119 After a professional football player was injured while tackling during a game, a treatment of modest hypothermia gained attention.24 This technique of slowly cooling the body’s core temperature to 92°F for a period of time and then slowly

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rewarming potentially minimizes metabolic demands and edema within an injured spinal cord. Results are promising in terms of safety and have shown improvements in neurologic outcomes.42 This neuroprotective therapy is still being studied in clinical trials. A major focus in the SCI community most recently has been on stem cell transplants. Various sources have been used, such as olfactory epithelial cells, bone marrow stromal cells, and, most recently, human embryonic stem cells. Several physicians outside the United States45,122 have injected humans with these cells, but none of these regimens were conducted through rigorous research, and reported results are mixed. It is a slow process to bring new pharmacotherapies into clinical practice, owing to the necessary steps of animal trials, followed by preliminary and then larger-scale trials in humans. Human trials must be placebo controlled and have a sufficient period of follow-up to assess the efficacy of the treatment. Because SCI is not common, clinical trials usually require collaboration among many medical centers. Approval to move these adult-based studies into the pediatric population is extremely difficult secondary to reluctance to approve studies by human subjects review boards and the Food and Drug Administration (FDA) in an attempt to protect this vulnerable population. It is not clear whether the young, immature spinal cord responds exactly the same way to injury as a mature spinal cord. Therefore, additional studies are being conducted in young animals to evaluate the sequelae of events after injury. It is important to realize that patients and their families have been and will continue to be tempted by unproved therapies, often at considerable personal financial expense. Therapists can help them to evaluate the evidence regarding potential therapies. Any purported cure should be subjected to randomized clinical trials before being offered to hopeful but vulnerable patients. It is reasonable for patients and therapists to hold out hope for a cure for SCI. It is often just this hope that motivates patients and caregivers to be meticulous about preventing secondary complications.

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As mentioned earlier, the site or level at which SCI occurs is often related to the cause of injury and the child’s age. Many of the nontraumatic causes (tumors, stenosis) of SCI occur in the thoracic spinal cord and result in incomplete injuries.98 By contrast, vertebral dysplasias place the upper cervical spinal cord or lower brain stem at risk. Birth trauma as a result of traction and angulation of the spine in a breech delivery most commonly causes SCI at the cervicothoracic junction. In the child younger than 8 to 10 years old, the cervical spine has greater mobility than it does in adults because of ligamentous laxity, shallow angulation of the facets, incomplete ossification of vertebrae, and relative underdevelopment of the neck muscles for the size of the head.151 Young children are therefore more likely to experience injury at the upper cervical spine than are adults,15 and SCI may occur without any signs of bone damage by radiography, a finding referred to as SCI without radiographic abnormality, or SCIWORA.16 Studies have reported the incidence of SCIWORA to be anywhere between 6% and 38% in skeletally immature children.21,34 In children, 55% of cases of traumatic SCIs result in tetraplegia as a result of injury between the first cervical and first thoracic root levels, and 45% result in paraplegia from injury below the first thoracic level.112 Most cases of traumatic SCI are caused by a blunt, nonpenetrating injury to the spinal cord in which the cord is not lacerated or transected, and in the majority of cases, some white matter tracts remain intact across the lesion. The direct effect of the trauma is immediate disruption of neural transmission in the gray and white matter of the spinal cord at and below the injury site, resulting in spinal shock. Reactive physiologic events evolve over a period of hours and induce secondary injury to the spinal cord.78 The exact sequence of events between transfer of kinetic energy to the cord and subsequent neuronal death is unknown. Animal models have shown that ischemia, hemorrhage, edema, calcium influx into cells, and generation of free radicals contribute to cell membrane degradation and death of neurons.62 In gray matter, neurons that die are not replaced. In white matter, axonal segments distal to the injury degenerate and synapses no longer function. Although axonal sprouting does occur to a limited degree in the central nervous system (CNS), it appears to be functionally

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insignificant, and most of the recovery observed in patients with incomplete lesions is probably due to resolution of neurapraxic injury. Case reports of neurologic improvement years after SCI are rare but provide hope that therapies can be developed to enhance function in the remaining spinal cord tissue.96 The zone of injury within the spinal cord is usually large enough to cause a transition in neurologic function from normal to abnormal or from normal to absent over several spinal root levels. Soon after SCI, the level of injury may appear to move cephalad as the secondary or indirect injury processes set in. Later, the level of injury may move caudally as these factors resolve, as sprouting develops (either within the spinal cord or peripherally to denervated muscles), or as hypertrophy of weak muscles occurs. The extent of injury may diminish for as long as 1 year, and it is obvious that until the natural history of SCI and recovery is delineated, experimental treatments may be inappropriately credited with enhancing recovery. There are several distinct patterns of neuroanatomic incomplete syndromes that have distinct clinical representations. Anterior cord syndrome is usually due to damage of the anterior spinal artery causing infarction to the spinal cord. This injury produces variable motor paralysis, with reduced sensation of pain and temperature but with preserved dorsal column function. Prognosis for return of function is poor. Hemorrhage in the central part of the cervical spinal cord produces flaccid weakness of the arms and strong but spastic legs, with preservation of bladder and bowel function. As a result, ambulation is a potential goal for this population, but hand function may be impaired depending on the level of injury. Posterior cord lesions are rare and produce selective loss of proprioception with preserved motor function. Ambulation remains unlikely because of loss of proprioception. A Brown-Séquard lesion results in ipsilateral paralysis and proprioceptive loss and contralateral loss of pain and temperature sensation. Brown-Séquard is primarily seen with penetrating trauma to one side of the spinal cord, such as in a stab wound. Prognosis for ambulation as well as bladder and bowel control is good. Injury to the lumbosacral nerve roots results in cauda equina syndrome, with lower extremity weakness and areflexia of the legs and bladder. Cauda equina lesions are

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essentially lesions of the peripheral nerve or lower motoneuron and may show recovery over several years owing to resolution of neurapraxia or to regrowth of damaged axons, as well as to peripheral sprouting.

Medical Diagnosis, Acute Management, and Stabilization Emergent Stabilization (In the Field) Initial management of a child with SCI is focused on stabilization of the spine to prevent further damage to the intact but injured spinal cord. The spine is immobilized during transport and throughout all assessments and procedures. Modified spine boards should be utilized with infants and toddlers to allow for proper neutral alignment of the cervical spine. Because of their larger head-to-torso ratio, their neck will be flexed on a regular spine board, potentially causing further injury. Modifications include either creating an occipital cutout or elevating the torso on an additional pad (preferred) to allow the cervical spine to be positioned neutrally12,13,63 (Fig. 21.1).

Diagnostic Studies At the hospital, a thorough neurologic examination is performed to determine the motor and sensory level of SCI and the completeness of injury. Spinal shock is usually present, although occasionally it has resolved by the time the patient is treated in the emergency department. In spinal shock, the muscles are flaccid below the SCI and all cutaneous and deep tendon reflexes are absent. This state persists for hours to weeks and is said to be over when sacral reflexes, including the bulbocavernous and anal reflexes, are present. Further evaluation is undertaken with plain radiographs of the whole spine from the first cervical to the sacral vertebrae to identify any fractures, facet subluxations, or dislocations. Full radiographic evaluation is imperative as multiple, noncontiguous fractures occur in 30% of children.14 Anteroposterior (AP) and lateral radiographs

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of the entire spine are needed to rule this out.14 Computed tomography (CT) and magnetic resonance imaging (MRI) are used to diagnose root impingement, the presence of bone fragments in the spinal canal, cord compression, and spinal cord hemorrhage. Because of the high incidence of SCIWORA, particularly in children younger than 10 years of age, an MRI is indicated for all children who have sustained an SCI and can show problems that are not seen on plain radiographs.14

FIG. 21.1 Emergent stabilization. A, the enlarged occiput causes child to flex the head forward. Note improved spinal alignment with pediatric spine board modifications cut out (B) or elevation of torso (C), which is preferred. (From Mencio GA, Swiontkowski MF: Green’s skeletal trauma in children, ed 5, Philadelphia, 2015, Elsevier.)

Surgical Stabilization Whether immediate surgical intervention to correct bone injury and decompress the spinal cord is effective in reducing paralysis is unknown because the numerous surgical procedures have never

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been subjected to randomized clinical trials. The main goal of surgery is to prevent later deformity, pain, or loss of neurologic function. Surgery may not be necessary if spinal alignment can be achieved with traction and maintained with an orthosis. Tonged cervical traction in children under 12 years of age, however, has increased risks as compared with its use in adults. Therefore, halo traction may be safer and preferred,12 even in axis (C2) fractures.88 A variant in the use of halo traction is an increase in the number of pins used, while decreasing the amount of torque on each pin. If a halo cannot be applied, a Minerva-type cervicothoracolumbosacral orthosis (CTLSO) would be an option (Fig. 21.2). External halo orthoses88 have also traditionally been used in conjunction with internal posterior wiring in children with atlantoaxial and occipitalcervical instability. However, investigation has identified successful rigid internal fixation for children requiring C1-C2 and occipitalcervical stabilization.6 Surgery is indicated if there is a penetrating injury, if traction has failed to reduce a dislocation, if nerve root impingement exists, if the spine is highly unstable and at risk of further damaging the cord, or if bone fragments are compressing the cauda equina.50 Regardless of whether surgery is performed, if bone injury has occurred patients usually wear an external orthosis until bone fusion is complete, often for 3 or more months. There is, however, regional variation in practice among orthopedic surgeons in the use of spinal orthoses after spinal fusion. For some lower lumbar (L4 or L5) injuries, the surgeon may have the child wear an orthosis with a thigh piece, which permits only limited hip flexion (e.g., to only 60°). This is done to reduce torque on the immature fusion mass that could occur from pull of the hamstrings on the pelvis in a position of hip flexion.

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FIG. 21.2 Infant wearing CTLSO for acute stabilization

secondary to C1-2 injury.

Underlying Injuries and Comorbidities Traumatic brain injury is one of the most commonly associated comorbidities and has been reported to occur in 38% of patients with SCI.21 Traumatic brain injury, which can occur with any type of loss of consciousness, is important to recognize at initial examination as it can significantly affect the rehabilitation process and warrant additional therapies such as speech pathology and neuropsychologic testing (see Chapter 22 on acquired brain injuries for further information). Another comorbidity that can be easily overlooked, particularly in someone with a cervical-level SCI, is injury to the brachial plexus. Brachial plexus injury should be considered if the mechanism of injury included any type of distraction to the shoulder or impingement or fracture of the clavicle in the presence of asymmetrical weakness in the upper extremities.

Medical Complications, Long-Term Medical Management, and Prevention of Secondary Impairments 1674

A child’s participation in SCI rehabilitation may be affected by a number of medical complications. Each of the following complications must be addressed by the entire rehabilitation team, physicians, nurses, therapists, and caregivers in order to achieve optimum outcomes.

Autonomic Dysreflexia Autonomic dysreflexia (AD) is a massive reflex sympathetic discharge that occurs after an SCI of T6 or above in response to noxious stimuli below the level of injury, causing a sudden increase in blood pressure (BP > 15 mm Hg over baseline systolic).97 If left untreated, the hypertensive crisis can cause stroke, seizures, or even death. Clinical features include headache, flushing, sweating, pilomotor activity, bradycardia or tachycardia, and hypertension. School-age children and adolescents are capable of reporting headaches, but younger children may have difficulty verbalizing symptoms and may have more nonspecific symptoms because of their maturing central and peripheral nervous systems. As a result, autonomic dysreflexia is often overlooked in these youngsters. Infants and children who are unusually sleepy, irritable, or crying may be experiencing an AD episode and should have their vital signs checked. Knowledge of baseline BPs are imperative, as infants, toddlers, and children up to 13 years of age have different normal values for BP.137 Additionally, patients with SCI typically have lower resting BP (i.e., 90/60).97 The primary causes of an AD episode/noxious stimulus below the level of injury are an overdistended bladder and the need for catheterization or a kinked catheter in the instance of an indwelling system; an overdistended bowel and the need to complete a bowel program; and excessive pressure to the skin below the level of injury caused by a wrinkle in clothing, compression hose, or shoes that are too tight/small. Treatment of AD includes monitoring BP, pulse, and temperature (at least every 5 minutes); elevation of the patient’s head (unless contraindicated); removal of compression stockings and abdominal binders; and loosening of tight clothes/shoes. Next the clinician performs bladder management steps and, if BP does not decrease,

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completes a bowel regimen. It is important to continuously check vital signs for reduction in BP and return to normal as the various management techniques are completed. If none of the above methods resolve the dysreflexic episode, pharmacologic intervention by a physician or nurse practitioner may be warranted.

Respiratory Dysfunction Respiratory insufficiency may occur with lesions of the cervical and thoracic spinal cord and is a prominent cause of morbidity and mortality in the population with SCI.3 Dysfunction ranges anywhere from complete diaphragm paralysis and the requirement of mechanical ventilation (C1-C3 and occasionally C4 depending on age/size of child) to diminished vital capacity or weakened forced expiration during coughing as a result of absent/weakened accessory breathing muscles (lower cervical and thoracic level injuries). Respiratory/breathing exercises are all too often overlooked as part of physical therapy rehabilitation but must be included. Respiratory exercises can occur during any part of treatment sessions, including during mat mobility and sitting balance activities. Quad coughing techniques are to be taught to the child and caregivers in order to assist with forced expiration when a cough alone is ineffective in clearing secretions. A quad cough is forced compression of the abdomen with a hand in an inward and upward fashion during expiration.

Deep Vein Thrombosis Paralyzed and dependent lower extremities can develop edema and deep vein thromboses (DVTs). Although common in adults with SCI, deep vein thrombosis occurs less frequently in children with SCI (5%)136 but does have a significant occurrence rate in 14- to 19year-old adolescents.136 A DVT prophylactic protocol of either insertion of an inferior vena cava filter (typically in older adolescents) or pharmacologic treatment is typically initiated during acute care hospitalization and completed during acute inpatient rehabilitation.

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Hypercalcemia/Bone Density/Muscle Atrophy Almost unique to children is the problem of immobilization hypercalcemia.91 During the first 12 to 18 months after SCI, approximately 40% of bone mineral density is lost via calcium excreted in the urine. Children are more likely to have rapid bone turnover, resulting in a larger load of calcium than the kidneys can excrete. This produces elevated serum calcium level, or hypercalcemia. Nonspecific symptoms include lethargy, nausea, altered mood, and anorexia. Remobilization is an important aspect of treatment in persons without SCI (e.g., the child with a femur fracture), but it is not known if this is effective in reducing hypercalcemia after SCI. The mainstays of treating immobilization hypercalcemia are primarily medical through hydration for improved excretion of the excessive calcium in urine and administration of etidronate (Didronel) and calcitonin (Miacalcin) to avoid excessive calcification in unwanted areas, such as joints (heterotopic ossification) or kidneys (renal stones). Pathologic fractures, which occur at an increased rate in persons with bone mineral densities below 40% of normal, are a potential complication of osteopenia. Deposition of new bone in periarticular soft tissue can also occur in paralyzed extremities. This heterotopic ossification can be asymptomatic, or it may interfere with range of motion (ROM) around a joint or even cause ankylosis. The most commonly affected joints are hips, knees, shoulders, and elbows. Muscle atrophy begins early and occurs at a rapid rate during acute immobilization through 24 weeks postinjury when it begins to plateau at approximately 15% loss of lean muscle mass below the level of injury.57

Orthostatic Hypotension Orthostatic hypotension, a position-related drop in BP, is a common side effect with SCI. There is a decrease in the venous return of blood from the lower extremities as a result of muscle paralysis, which decreases cardiac output and arterial pressure, causing a quick drop in BP. As a result, the person’s BP cannot adjust quickly enough during positional changes such as supine to sit, sit-to-stand, or coming out of a tilted position in a power wheelchair. Treatment

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for orthostatic hypotension can include gradient compression stockings, an abdominal binder, utilization of a wheelchair with a reclining back (particularly during acute care mobilization), tilt table, or pharmacologic intervention. Early physical therapy sessions may address the goal of maintaining a stable BP when transitioning out of bed or while in the wheelchair. The patient’s BP should be monitored throughout the treatment session.

Thermoregulatory Dysfunction Persons with SCIs have an impaired ability to regulate body temperature resulting from the loss of hypothalamic thermoregulatory control and interruption of afferent pathways from peripheral temperature receptors below the level of injury. With injuries above T6, there is the complete loss of shivering and sweating and no peripheral circulatory adjustment below the level of injury. Education provided to children and caregivers must include the increased risk of hypothermia and frostbite in cold weather, as well as heat exhaustion and heat stroke in hot weather. Children with SCI should avoid excessive sun exposure and maintain adequate hydration.

Syringomyelia Delayed cavitation (syringomyelia) within the damaged spinal cord can occur in patients with complete or incomplete lesions. The occurrence of a cystic cavitation, or syrinx, appears to be common after SCI and it may progressively enlarge, resulting in further loss of neurologic function months to years after SCI.145 Signs and symptoms that may herald the presence of a syrinx include loss of motor function, ascending sensory level, increased spasticity or sweating, and a new onset of pain or dysesthesia.

Spasticity and Pain Spasticity is a frequent occurrence after SCI and usually evolves over a period of 1 to 2 years. Although initially the patient is flaccid, hypertonus gradually appears, and in the first 3 to 6 months after

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SCI hyperreflexia, clonus and flexor spasms develop. Later, extensor spasms usually predominate. Evolution of spasticity after CNS insult is common and is seen in other conditions such as cerebral palsy and stroke. In SCI, the immediate effects of loss of supraspinal inhibition and the later-developing effects of denervation supersensitivity and sprouting by afferent and collateral neurons probably all contribute to the development of spasticity, but the sequence of events behind the evolution of clinical manifestations of spasticity is not known. Spasticity can be controlled pharmacologically with oral medications, such as baclofen, intramuscular injections, such as Botox, or nerve block injections, such as phenol. Therapeutic interventions to control spasticity include passive ROM, passive and functional electrical stimulation (FES)–assisted cycling, and static standing. Many patients feel a certain amount of spasticity is helpful during transfers, bed mobility, or even some activities of daily living, so pharmacologic or other therapeutic interventions are usually withheld unless the spasticity is severe enough to limit function. Neurogenic, or neuropathic, pain can occur after SCI at, above, or below the level of injury. Children and adolescents describe neurogenic pain as a burning pain, which anecdotally precedes the return of function or sensation at the dermatologic level(s) where pain is experienced. This type of pain can be unbearable but can be pharmacologically controlled with gabapentin (Neurontin) or pregabalin (Lyrica).

Skin Breakdown and Pressure Ulcers Pressure ulcers occur as a result of improper positioning, both in bed as well as in a wheelchair, or inadequate pressure relief, which can limit the ability to sit. Pressure ulcers may also occur because of the improper fit of spinal orthoses, upper and lower extremity splints, and braces for ambulation. It is important to remember that skin breakdown is also caused by friction, shear, and moisture. All too often skin breakdown on the buttocks occurs from shearing across the wheel of the wheelchair during transfers and moisture secondary to improper bladder management or continuation of

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wearing a diaper beyond the age when the child should be dry between catheterizations. Young children may not exhibit skin breakdown in the typical sense (from poor wheelchair or bed positioning) as seen with adolescents and adults because they are under direct care and guidance of their caregiver; however, young children typically have complete disregard for any body area that is insensate. They often will drag their lower extremities on the ground while crawling, or they may even bite insensate fingertips to the point of self-injury. As children grow older, it is often difficult for them to understand the importance of routine pressure-relief activities, particularly in the adolescent population with their tendency to test boundaries with caregivers. Patients and caregivers must also pay special attention to hot items on insensate skin to avoid burns (e.g., on the thighs from food that has been in the microwave such as popcorn or the heat generated by a laptop computer). Pressure-relief techniques must also be taught. During acute care hospitalization and rehabilitation, the child/adolescent is turned every 2 hours and frequently is utilizing a specialty low air loss mattress. Children using power mobility can perform pressurerelieving techniques through powered seating, such as tilt and recline. Those using manual wheelchairs can perform wheelchair push-ups or lean laterally and anteriorly. The recommended frequency of pressure-relieving techniques varies between 15 to 30 minutes and should last 1 minute to allow return of blood flow to compressed tissue.38 Children often utilize a watch with a timer to provide an audio reminder to complete weight-shift/pressure-relief measures at designated times.

Orthopedic Management Contractures can arise as a result of static positioning, spasticity, or heterotopic bone formation and may interfere with positioning or voluntary movement. As a result, passive ROMs or the prolonged stretches, which an upright stander can provide, are imperative to use as treatments. Tightness is most typically seen in the hip flexor, hamstring, adductor, and ankle plantar flexor muscles. Of note is the fact that children and adolescents with flaccid paralysis may

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develop “pseudo hip flexion contractures,” in which the iliotibial band is actually the tight muscle rather than the iliopsoas and rectus femoris muscles. Hip subluxation (Fig. 21.3) and dislocation are common in children who have onset of SCI before age 10, with an incidence up to 66% in children under 4 years of age.93 Management to prevent subluxation/dislocation includes stretching of hip adductor and flexor muscles; proper bed positioning in an abducted position with either a wedge or pillow; and wheelchair seating positioning that encourages proper femoral alignment, such as a medial thigh buildup or pommel. Prevention is important, because although typically nonpainful, hip dislocation can lead to pelvic obliquity and other postural changes that will place the child at greater risk of skin breakdown as well as exacerbate a neuromuscular scoliosis.93 Treatment can include surgical plating and pinning to restore joint alignment.

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FIG. 21.3 Hip instability.

Pathologic fractures can occur to osteopenic extremities as a result of disregard of lower extremities during transfers, falls, or forceful ROM exercises. The osteopenia has been found to be greatest at the hip and knee as compared to children their age without a disability.84 Neuromuscular scoliosis occurs in virtually all children with SCI (up to 98% has been reported13), particularly in patients injured before their adolescent growth spurt, and can affect the comfort of seating and respiratory function. Sixty-seven percent progress to the point of requiring spinal fusion.13 Although it is important to provide proper pelvic alignment and trunk support in wheelchairs, external support devices in wheelchairs do not seem to ultimately prevent the development of scoliosis (Fig. 21.4).14 Prophylactic bracing is a controversial topic in therapy because the wear of a thoracolumbosacral orthosis (TLSO) will most likely

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inhibit independent activities, mobility, and reachable workspace while worn.30,130 The argument, however, is that wearing the brace prophylactically can prevent (curves < 10°) or even delay (curves < 20°) spine fusion. If surgery can be delayed until these children have achieved nearly all of their trunk growth, bracing is considered successful. Once a curve nears or surpasses 20°, however, bracing may be futile.99 Typical brace prescription can range from “while out of bed” for less significant curves to 23 hours a day, for which aggressive brace wear can delay progression when close to the 20° cutoff, particularly during growth spurts.99 Brace wear compliance is always a question, as many children and teens tend to return for follow-up and leave the brace at home. Surgery for neuromuscular scoliosis becomes indicated once the degree of curve causes respiratory compromise or significant pelvic obliquity that increases the risk of ischial pressure ulcers.

Foreground Information Physical Therapy Examination The physical therapy examination of the child with spinal cord injury is influenced by many factors, including the age of the child presently as well as age at injury, the development and maturation of the child, any concomitant injuries such as a traumatic brain injury or cognitive delay, and the family’s understanding of SCI. Physical therapists examine children with SCI in the acute care, rehabilitation, outpatient, home, and school settings. What is examined in each setting will depend on the age of the child, the child’s abilities and needs, and the setting itself.

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FIG. 21.4 Neuromuscular scoliosis.

Key History and Systems Review Information The physical therapist must have an understanding of the child’s history, comorbidities, and restrictions. Children with SCI are at risk for secondary conditions such as skin integrity issues, pain, cardiovascular issues and disease, pulmonary and respiratory issues, and musculoskeletal issues. These issues should be screened for during the examination. Box 21.1 lists questions that should be included in the examination history and systems review. Depending on the child’s age, these questions may be answered by the parents/caregiver or the child.

Tests for Impairments of Body Structure and Function Quantification of changes in body structure and function in the young child is often unreliable because young children are unable

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to cooperate consistently with formal testing. Passive ROM measurement is possibly an exception, but intrarater and interrater reliability in children with SCI have not been established. In children without SCI and in children with myelodysplasia, manual muscle testing is generally unreliable if the child is younger than 5 years of age.95,101 In young children, strength testing is often estimated by encouraging and observing movement. Ideally, the therapist places the child in various positions and encourages him or her to reach for toys with a single extremity. This allows examination of gravity-eliminated and antigravity movements, as well as comparison of left and right extremities. Resistance can be provided with small wrap weights (0.25 lb) or the weight of handheld toys. In reality, the best choice may be for the physical therapist to observe spontaneous play and record descriptions of available movements. Ruling out substitutions can be challenging. Muscle strength is recorded as 0 through 5, as with adults (rarely with the finer + or − gradations). Scores of 4 and 5 are subjective measures, particularly in growing children, but with experience the therapist can become an increasingly more accurate evaluator. While examining muscle strength and function, spasticity and spasms should be noted. The physical therapist also facilitates the child’s basic postural responses, such as positive support of the lower extremities or protective extension of the upper extremities. Postural alignment should be assessed as well as balance in sitting and standing if applicable.

B O X 2 1 . 1 History

and Systems Review

Questions Date, cause, level, ASIA, AIS classification if known Concomitant injuries Current medications Medical, surgical, and rehabilitative management Neurologic change Pain and response to pain Current functional performance: what the child is capable of doing versus what the child typically does, how function has

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changed with growth and development History of orthostatic hypotension and autonomic dysreflexia Secondary conditions such as scoliosis, hip subluxation, or new medical diagnosis Current equipment and issues or problems with the equipment Environmental barriers Social support Level of participation at home, school, and in the community Modes of transportation Psychological status Changes since last examination Current goals Questions the child or parent may have

International Standards for Neurological Classification of Spinal Cord Injury or American Spinal Injury Association Examination Professionals should use a common terminology when describing the motor or sensory levels of SCI in children or adults. Most widely used are the International Standards for Neurological Classification of Spinal Cord Injury (ISNCSCI), which are published by the American Spinal Injury Association (ASIA).2,80 The ISNCSCI standards were developed by consensus of a multidisciplinary group of clinical experts and have been revised periodically since initial publication in 1982. The ISNCSCI standards, more commonly referred to as the ASIA Examination, define right and left motor levels, right and left sensory levels, the neurologic level, the severity of injury (i.e., complete versus incomplete), and a classification called the ASIA Impairment Scale (AIS). The ISNCSCI standards have been used as the primary indicators to predict recovery of neurologic function,20,89,92,150 and the exams have been used to determine inclusion for entry into drug and device trials that pertain to SCI,19,60,96,114,125,133,134 including outcomes of activity-based rehabilitation, a program of intensive cycling, assisted treadmill training, and swimming.96 Precise description of the motor and sensory loss after SCI is important for two reasons. First, it helps predict the likelihood of

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further neurologic recovery in both complete and incomplete syndromes. For instance, in motor complete C5 tetraplegia, most if not all patients gain one full motor level, achieving grade 3 wrist extensor movement (a C6 muscle) during the first 8 months after injury.44 Researchers have also determined that in SCI above T11, preservation of pinprick sensation has predictive value for return of motor function and independent ambulation, probably because of the proximity of the ascending pain fibers and descending motor fibers in the spinal cord.114 The second reason for the importance of a precise definition of the level of SCI is that it helps predict the ultimate level of independence a patient can expect to achieve in the areas of mobility, self-care, and even communication. Patients with incomplete SCI may exceed the expectations for any given level of injury. Such expectations for independence must also be tempered by consideration of the child’s age, which influences developmental expectations. It can take years for preschoolers to reach the expected level of independence, or they may fall short of expectations if complications, particularly orthopedic problems, arise. Environmental and personal factors also play an important role in determining the child’s participation in home life, education, community activities, and social relationships. TABLE 21.2 Key Muscles for Motor Level Classification C5 C6 C7 C8 T1 L2 L3 L4 L5 S1

Elbow flexors (biceps, brachialis) Wrist extensors (extensor carpi radialis longus and brevis) Elbow extensors (triceps) Finger flexors to the middle finger (flexor digitorum profundus) Small finger abductors (abductor digiti minimi manus) Hip flexors (iliopsoas) Knee extensors (quadriceps) Ankle dorsiflexors (tibialis anterior) Long toe extensors (extensor hallucis longus) Ankle plantar flexors (gastrocnemius, soleus)

From American Spinal Injury Association: International standards for neurological and functional classification of spinal cord injury, Chicago, 2000, revised 2002, American Spinal Injury Association.

Defining the Level of Spinal Cord Injury The ASIA standards accept the widely used system of muscle

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grading: 0 = absence, total paralysis; 1 = trace, palpable, or visible contraction; 2 = poor, active movement through full ROM with gravity eliminated; 3 = fair, active movement through full ROM against gravity; 4 = good, active movement through full ROM against moderate resistance; and 5 = normal, active movement through full ROM against full resistance. Motor levels may differ for right and left sides of the body. The key muscles for determining motor level are listed in Table 21.2. Because all muscles have innervation from more than one root level, the presence of innervation by one root level and the absence by the next lower level result in a weakened muscle. The ASIA-defined motor level is the most caudal root level in which muscle strength is grade 3 or more and the next most rostral muscle a grade 5. By convention, if a muscle has grade 3 strength and the next most rostral muscle is grade 5, the grade 3 muscle is considered to have full innervation by the higher root level, for which it is named. For example, for a patient with a grade 2 C8 key muscle, grade 3 C7 key muscle, grade 4 C6 key muscle, and grade 5 C5 key muscle, the motor level as defined by ASIA is C6. One disadvantage to using only the ASIA key muscles to define a level of function is the omission of examination of hip extensor, hip abductor, and knee flexor muscles. These L5 and S1 muscles play an important role in activities such as transfers, ambulation, and stair climbing. Strength grades of the key muscles can be added together for both sides of the body to create a composite ASIA motor score. This score has been used in research studies assessing the efficacy of pharmacologic treatment of SCI.7,1719,45,79,83,122 It can also be used to predict function and need for assistance.121,123,150 The sensory level may not correspond exactly to the motor level. Determining the sensory level is especially helpful in injuries above C5 or to the thoracic spinal cord, where there are no key muscles to define the level of SCI. Rather than relying on dermatome charts, which vary from one text to another, the ASIA standards rely on the presence of normal light touch and sharp/dull discrimination (pinprick) sensation at a key point in each of the 28 dermatomes on the right and left sides of the body (Fig. 21.5A, and Table 21.2). Proprioception should also be assessed below the level of injury in patients with incomplete SCI to determine the integrity of dorsal

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column function.

Classification A complete injury, or AIS A classification, is defined as the total absence of motor or sensory function in the lowest sacral segments (Fig. 21.5B). There may be some preservation of sensation or motor levels below the level of injury. This is defined as a zone of partial preservation, a term used only with complete injuries. A patient is said to have an incomplete SCI, AIS B, C, or D classification, only if motor or sensory function is present in the lowest sacral segment, implying voluntary control of the external anal sphincter, sensation at the mucocutaneous junction, or both. Further delineation between incomplete classifications occurs based on the extent of preservation of sensory or motor function below the level of injury. An addition has been the Autonomic Standards Assessment Form (Fig. 21.5C), which highlights autonomic function/dysfunction and can be used to complement the ISNCSCI standards. Application to the Pediatric Population Historically, the ISNCSCI standards or ASIA examination has routinely been the clinical tool used for assessing pediatric patients with SCI. It is considered the gold standard assessment for assessing prognosis and outcomes, yet the actual utility in the pediatric population was not assessed until recently. Research suggests that the ISNCSCI exams may have poor utility overall in children under 4 years of age, as they were unable to complete the exam.105 Additionally, the results suggest poor cooperation of children age 10 and under in terms of anxiety during the pinprick portion of the discrimination exam. Results also showed low precision in confidence intervals for total motor scores in children up to the age of 15, bringing into question the reliability of the motor examination.105 Additional questions revolve around the clinical validity of the anorectal exam in classifying children with SCI, particularly children who were injured prior to being potty trained who have never had to conceptualize holding in a bowel movement (which is

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the verbiage typically used during the anal contraction portion of the exam).147 Preteens and teenagers may also have difficulty with the anorectal portion of the examination because of privacy concerns. The WeeSTeP, a complement to InSTeP, is an electronic training module developed to outline pediatric considerations for the current ISNCSCI standards (www.asialearningcenter.org). Some modifications include altering the method of approaching child, conducting sensory testing in a nonthreatening manner, altering vocabulary used to make it more child friendly, and giving the child sense of control during test. Alternatives also include an observational motor assessment or infant motor scale to a certain age. Most important, however, is explaining to the parents/caregivers the current standards, how classification may not be able to be ascertained due to the child’s age, and that repeated testing during various points of follow-up will be used in an attempt to identify neurologic change until the child is old enough to reliably complete the ISNCSCI standards (or until a pediatric version becomes available to use as a clinical tool). Depending on experience and the policy of the facility, a physical therapist may be the clinician completing the ISNCSCI standards examination. In the case of the pediatric patient, it would be the examiner’s responsibility to educate the parent and possibly the patient on the purpose of the examination, how it may be modified for the child, as well as the outcome. Based on the age of the child and the examination results, the physical therapist may be able to determine the SCI characteristics such as severity and level of injury.

Tests for Activity and Participation The physical therapist must establish a thorough baseline report of the child’s abilities and activity and determine whether activity limitations and participation restrictions are due to the child’s age, primary neurologic changes in body structure and function, secondary conditions such as contractures, pain, decreased endurance, the need to wear a spinal orthosis, or other causes. The Functional Independence Measure (FIM) (for adolescents), Functional Independence Measure for Children (WeeFIM),1,113

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Pediatric Evaluation of Disability Inventory (PEDI),61,111 Pediatric Quality of Life (PedsQL), and Canadian Occupational Performance Measure (COPM) have all been used to describe function and measure outcomes for children with SCI; however, none fully identifies changes with recovery and rehabilitation in children with SCI. The FIM and WeeFIM are measures used in acute rehabilitation across many diagnoses to determine the “burden of care.” These measures, when used with patients with SCI, may not be sensitive enough to detect change associated with return of function, and some areas tested have ceiling and floor effects. Additionally, a change in FIM or WeeFIM score may be based more on lack of injury severity rather than length of inpatient rehabilitation.56 For example, in comparing a child with a complete cervical injury to a child with an incomplete thoracic injury, each of whom had a 4week inpatient rehabilitation stay, the child with the incomplete thoracic injury may show a much larger change in FIM or WeeFIM scores. This change is more related to the fact that, based on level of injury, the amount of functional change is inherently greater as measured by the FIM or WeeFIM, rather than reflecting the effectiveness or amount of rehabilitation received. Overall, no one measure or test has been deemed the most effective and efficient for children and adolescents with SCIs. One option may be the Spinal Cord Independence Measure (SCIM) III, developed in 1994, which measures performance of daily activities in patients with spinal cord lesions. It has been shown to have strong construct validity (.8–1.4, p < .05), interrater reliability (SCIM III kappa .64–.84; ICC > .94), and sensitivity to change (SCIM II, 2001)26-28 in adults even when compared to the FIM.27 Evaluating the utility and psychometric properties of the SCIM-III in children with SCI is currently underway. Another option may be Computerized Adaptive Testing (CAT), which employs an algorithm and adapts the number of questions to each specific individual based on previous answers given to achieve the desired precision of scores for all children on a standard metric.47 Work on development of parent- and child-report CAT specifically for children with SCI has been completed,22,103,104 and clinical deployment is under way. These SCI-specific CATs, which evaluate general mobility, wheeled

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mobility, self-care, school, chores, and leisure functions as well as participation, can be used to monitor the child longitudinally or determine change due to an intervention.

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FIG. 21.5 A, Scoring sheet with key sensory testing

areas by dermatome for ASIA Examination. Dot in each dermatome indicates exact location within dermatome to complete sensory testing. B, Muscle grading, impairment scale, and steps in classification. C, Autonomic standards assessment, newly added assessment sheet to complement muscle and sensory testing of ASIA examination. (Adapted from American Spinal Injury Association: International standards for neurological classification of spinal cord injury, revised 2011, Atlanta, GA, Revised 2011, ASIA., Updated 2015.)

It is also critical to systematically test the child’s ability to reach in a variety of positions, roll, position in bed, come to sitting, balance in sitting, scoot, crawl, transfer to and from a variety of surfaces, come to kneel, stand, and ambulate. Some or all of these may not be possible, so the type and amount of assistance needed are recorded, or the therapist may simply record the movement as “unable.” In general, when assessing function, the dependent, maximal, moderate, and minimal assistance, supervision, and independent scale is used (Table 21.3); however, it is often further qualified based on developmental appropriateness. For example, a child may be able to physically push his or her wheelchair across the street; however, children do not do this independently because the average young child does not move across the street without supervision. Additionally, children may be able to complete a task independently but on a typical basis their parent does it for them (i.e., getting dressed in the morning). Both can be noted and monitored over time. The examination of the infant, young child, or adolescent with SCI will require modification based on chronologic as well as developmental age. As previously mentioned, determination of motor and sensory levels in infants and young children is challenging and may require multiple examinations to determine what movement is voluntary and what is reflexively mediated. The therapist can determine activity limitations by comparing the infant’s motor skills such as head control, rolling, sitting balance, transitional movements, crawling, and standing with expected developmental milestones. Very young children with SCI require

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careful follow-up over time to ensure that they meet functional goals and are not infantilized by caregivers. TABLE 21.3 Levels of Assistance for Functional Assessment Terminology Independence Modified independence Supervision

Definition Able to complete the activity safely and timely without assistance of another person and without the use of aids or devices Able to complete the activity safely without assistance but requires aids or devices or takes extra time to complete Able to complete the activity without physical assistance but another person is present for safety or to provide support if needed A small amount of assistance is required; typically the patient does 75% or more of the task A greater amount of assistance is required, typically the patient does 50%– 74% of the task The patient does 25%–49% of the task

Minimal assistance Moderate assistance Maximal assistance Dependent/unable The patient does less than 25% of the task to do

Physical Therapy Intervention Rehabilitation and Habilitation Research in the adult population has shown that timely referral of patients with SCI to comprehensive, multidisciplinary SCI centers is more cost effective, with improved patient outcomes, reduced hospital and long-term nursing care charges, and an improved prospect for long-term patient earnings, compared with unspecialized care for SCI patients.25 The acute rehabilitation and long-term treatment of children with SCI require a comprehensive interdisciplinary approach involving both hospital and school-based personnel. Team members typically include physical therapists, physicians, nurses, a dietitian, occupational and speech therapists, therapeutic recreation specialists, a social worker, an orthotist, a clinical psychologist, teachers, the child, and the family. Physical therapists often work alongside a pediatric physiatrist, who typically provides medical management and serves as a team leader. In some centers, however, an orthopedist, a neurologist, or a

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pediatrician may fill this role. The lead physician may also request consultation by other physicians such as an orthopedic surgeon or neurosurgeon to monitor spine stability and alignment, a urologist to monitor urinary tract function, and a pulmonologist for ventilator management. Physical therapists develop age-appropriate ROM, strengthening, and SCI education programs. They address functional mobility, including bed mobility, transfers, sitting balance, ambulation, and basic and advanced wheelchair skills. The physical therapist makes recommendations on lower extremity orthoses and plays a primary role in the ordering of a wheelchair. Goals must be set according to usual expectations for age. Greater independence with varying degrees of transfers and mobility will be expected the older the child.

Continuum of Care Like the physical therapy examination, the interventions may differ in each setting based on the age, abilities, and needs of the child. In general, in the acute care setting, the physical therapy focus is on education, prevention of secondary complications, and discharge planning. During inpatient rehabilitation, physical therapy interventions include trialing, choosing appropriate equipment, and functional activities such as engaging in developmentally appropriate and continued education. With development and increasing age, returning to the inpatient rehabilitation setting for “brush up rehab” is an option. Learning new skills or advancing skills as developmentally appropriate can also occur in the outpatient setting. Home care services may be warranted if the focus is to allow for independence in the home setting, whereas school-based interventions will address the needs of the child while functioning at school.

Education Physical therapists should include parents as active participants during both the examination and intervention phases. Parent goals often focus on wanting the child “to walk again.” However, parents must become experts in all aspects of their child’s mobility and use

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of adaptive equipment. Parent education and training should be an ongoing process that begins soon after the initial examination and supports success with day or overnight outings. Physical therapy goals for this population focus on education, as the family must be thoroughly trained in all aspects of the child’s mobility and care. Children must also be trained to instruct others in their care, including use and maintenance of the wheelchair, mechanical lift, environmental control unit (ECU), computer access, and any other equipment.

Outcomes The therapist and SCI team must assist the family and child in establishing realistic outcomes. One must consider the child’s level of injury (Tables 21.4 and 21.5), the completeness of injury, the age of the child, and the family’s expectations for the child. Parents should be included in treatment sessions whenever possible. Although many children work better in therapy sessions in the absence of parents, parents should be regularly included to see the new skills their child can independently accomplish and the emerging skills that require assistance. Every parent and caregiver want the child with an SCI to walk again. Ambulation is feasible and can be tried with certain portions of this population; however, the goals for ambulation must be realistic.23 In many cases, ambulation does not replace the use of a wheelchair, especially with braced ambulation, as it is both time and energy consuming. Studies have looked at the relationship between results of the ISNCSCI examination and ambulatory ability.29,123,150 One pediatric study determined that the total lower extremity motor score can predict ambulatory potential, including the use of ambulation as a primary mode of mobility.29 Two adultbased studies found that the total lower extremity motor score is directly related to the potential for an individual with SCI to ambulate. If the total lower extremity motor score is less than or equal to 20, an individual’s ambulatory ability is typically limited to household situations, in contrast to those with scores greater than or equal to 30, who are often community ambulators.150 Additionally, the greater the total lower extremity motor score, the

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greater the individual’s walking speed and endurance.123 Guidelines have been developed based on developmental level and neurologic impairment to aid in decision making regarding mobility and appropriate clinical goals.23,37 A stander is recommended for patients with injuries at T1 and higher and either a stander or bracing for injuries below T1. For those with levels of injury at T1 and below, ambulation may be achieved via various types of bracing depending on level of injury and lower extremity muscle strength. With higher-level injuries, ambulation is more of a therapeutic/exercise goal rather than a true functional goal. The cost of bracing and assistive devices must be balanced against the practicality of ambulation and the willingness of the patient and family to follow through with ambulation after discharge/training sessions. The most common reasons for discontinuing use of the braces are the excessive energy costs and the need for assistance to don and remove them for ambulation.146 Periodic reexamination of the child’s physical abilities and outcomes as an outpatient can be used to determine whether ambulation with braces is a reasonable goal. Many patients become less interested over time in ambulation requiring extensive bracing as the permanence of the injury becomes more apparent. Those who remain interested may have specific needs for standing or limited walking that increase the likelihood of long-term use of the orthoses.146 TABLE 21.4 Mobility in Complete Tetraplegia, Expected Function, and Necessary Equipment for Level of Injury

A, assistance required; D, dependent; I, independent; MWC, manual wheelchair; PWC, power wheelchair; U, unable. Adapted from Massagli TL, Jaffe KM: Pediatric spinal cord injury, treatment and outcome, Pediatrician 17:244-254, 1990.

TABLE 21.5

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Mobility in Complete Paraplegia, Expected Function, and Necessary Equipment for Level of Injury

AFOs, ankle-foot orthoses; I, independent; KAFOs, knee-ankle-foot orthoses; MWC, manual wheelchair; RGOs, reciprocating gait orthoses; SBA, standby assistance. Adapted from Massagli TL, Jaffe KM: Pediatric spinal cord injury, treatment and outcome, Pediatrician 17:244-254, 1990.

Physical therapy intervention sessions will be structured around the child’s motivation for play. Within that framework, the therapist designs activities that encourage strengthening, balance, reaching, rolling, sitting, transitions, and mobility in various combinations. Sitting balance is often one of the major goals of therapy. Balance is impaired by altered strength and sensation and often by the presence of a spinal orthosis. Conversely, a child with tetraplegia or high paraplegia may benefit from a soft orthosis to facilitate sitting, leaving hands free for other activities (Fig. 21.6). The seated child is encouraged to progress from therapist support to self-support at a tabletop or on a mat and to independent sitting if this is a realistic goal given the level and completeness of injury. These goals may be achieved by engaging the child in play activities. All innervated musculature must be strengthened, including muscles that have normal grade 5 strength because these will be used to compensate for weakened or paralyzed muscles. Maintaining full ROM, particularly at specific joints, is imperative. For example, full ROM at the shoulders must be maintained for ease of dressing. Historically, patients with tetraplegia who have wrist extension but no hand function were provided with a stretching program that allowed them to develop mild finger flexor tightness to provide for a tenodesis grasp during wrist extension. Current recommendations, however, are to maintain a supple hand and to even splint with metacarpophalangeal flexion and interphalangeal extension (“intrinsic plus” position) to maintain this ROM. The change in practice is due to the evolution of upper extremity reconstructive surgery for the population with

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tetraplegia, which can augment wrist extension, grasp, lateral pinch, and finger extension.102 Stretching the hamstrings to allow 100° to 110° of hip flexion is necessary for dressing and self-care. It is important to have excessively flexible hamstrings to prevent overstretching of the low back. Ankle ROM must be maintained at neutral for proper placement on the wheelchair footrest.

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FIG. 21.6 A soft orthosis provides external support,

improving sitting balance and allowing this child with a high thoracic spinal cord injury to use both hands in play.

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A small number of children with tetraplegia have upper cervical injuries (C1-C3) that necessitate mechanical ventilation (see Chapter 25). Physical therapy for these children and for those with C4 tetraplegia has a more narrowed focus because the child is dependent in bed mobility, transfers, and sitting balance (see Table 21.2). Spasticity tends to be more problematic with this population, although daily passive ROM can reduce tone and facilitate positioning.

Bed Mobility and Transfer Techniques Depending on the level of injury and personal preference for the patient, several strategies can be used when teaching mobility and transfer techniques. It can be challenging for both the physical therapist and patient. The International Network of Spinal Cord Injury Physiotherapists website (www.scipt.org) is a valuable resource, as it contains videos of patients at various levels performing bed mobility, transfers, wheelchair mobility, and gait techniques. Extended detail can also be found in SCI rehabilitation textbooks.51,131 Bed mobility and transferring techniques for children and adolescents are similar to those used for adults. Successful mobility focuses on maximizing biomechanics, using momentum, and understanding the head-hips relationship. The head-hips relationship, or the concept of moving your head and upper trunk opposite to the direction you are moving and looking away from where you are moving in order to unweight the pelvis for transfers or mat mobility, is not intuitive for a child. Mastery of this concept, however, will open up much more opportunity for mobility. For children with paraplegia and lower level tetraplegia (C6 and below), transfer training may initially include the use of a transfer (sliding) board. Calling it a transfer board is preferred so that children do not think they can slide on the board, as doing so can shear the skin. Push-up blocks can also be helpful when first learning transfers (Fig. 21.7). As upper extremity strength and balance increase, the child may be able to transfer without a transfer board. Types of transfers learned should include those for level and nonlevel surfaces, as well as floor to wheelchair and wheelchair to

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floor. Older children should also learn how to transfer in and out of a vehicle. Young children can be physically capable in transferring themselves; however, they may require a caregiver’s assistance from a safety standpoint as they may totally disregard their legs, putting themselves at risk for a lower extremity fracture. Rather than taking a lateral approach to the surface they wish to transfer to, young children may take more of an anterior approach and scoot forward/backward with their legs in either a long or ring-sit position. Children and adolescents with C5 and above tetraplegia are dependent for transfers and require either a caregiver to lift them or the use of a mechanical lift. In either situation, all caregivers must be educated in proper technique, and the child must be able to verbalize the steps that need to be taken for a safe transfer.

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FIG. 21.7 Teen wearing a thoracolumbosacral orthosis

with a thigh piece that restricts hip flexion uses a sliding board and push-up blocks to begin learning transfers.

Wheeled Mobility If community ambulation is not an expected outcome, the child needs a wheelchair for mobility. Guidelines for appropriate mobility have been developed for children with SCI to assist the therapist and team.23 Young children with an SCI at or above C6 need a power wheelchair for independent mobility. Some young children with lower levels of cervical SCI, or even high thoracic injuries, may be able to propel a manual wheelchair for only limited

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distances on smooth, level surfaces owing to lack of upper body strength and endurance. For these children to be exposed to a broader range of environments, such as preschool playgrounds or uneven or steep terrain around the family home, prescription of a power wheelchair is justifiable to promote age-appropriate functional mobility. A child as young as 18 to 24 months may be trained to use a power wheelchair but requires adult supervision for safety.82,100,119a An environmental control unit (ECU) and a complex power wheelchair are needed for independent mobility when a joystick is not appropriate due to a higher level of injury. The joystick is replaced with head, tongue, or sip-and-puff controls and the power tilt must allow for ventilator placement. In addition, a manual tilt-in-space wheelchair is necessary to provide these children with a substitute when the power chair needs repairs. The manual wheelchair is also useful for transport in places where the larger, heavier power chair is impractical. Many families do not have a home with hallways or doors large enough to accommodate a power wheelchair, so power mobility may be used primarily in community and school settings and the manual wheelchair is used in the home. Power-assist wheels are motorized wheels that can be added onto or are already a part of a manual wheelchair. These allow the user to provide some propulsion forces, and the motors enhance their propulsion to allow them to be functional. This type of wheel is most applicable for patients with C6-T1 level injuries or where upper body endurance is lacking. Power-assist wheels do add weight to the wheelchair, but the trade-off is that there is still a manual wheelchair that can typically be transported in the trunk of a car, rather than a power chair that requires an adapted van or lift. One case series35 demonstrates positive outcomes of independent propulsion over terrain and ascending ramps in children, ages 7 to 11, with SCI or dysfunction affecting upper extremity strength. For children/adolescents for whom manual wheelchair propulsion is going to be the primary means of independent mobility, extra attention must be paid to the configuration of the wheelchair in addition to the weight of the chair (Fig. 21.8). Focus is frequently placed on ultra-lightweight materials; however, setup is just as important, if not more so. Proper setup details include

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overall width and depth of the chair, axle placement, seat-to-floor height, wheel and rim size, caster size, and back type and height. Variances in setup can now be quantified through the use of the SmartWheel (Fig. 21.9), which measures propulsive forces, speed, and cadence. The Paralyzed Veterans Association (PVA) has also published guidelines on proper wheelchair setup in the adult population39,82 to preserve the joints of the upper extremity, and because literature is lacking in the pediatric population,23,82 these may be considered, as best practice is in the pediatric population. Overuse injuries at the shoulder (rotator cuff impingement, capsular injury) and the wrist (carpal tunnel syndrome) are seen in a large percentage of the adult population.39 It is likely that these same injuries will occur in pediatrics, as they are pushing wheelchairs for more years, and presumably with more force, because the chair can weigh more than the child. Additionally, the tendency is to add backpacks on the back of the chair, only to increase the overall amount of weight the child needs to propel. Finally, oftentimes the wheelchairs provided are larger than needed with the anticipation that the child will grow and the chair needs to “grow” with the child, particularly because insurers will only pay for a new chair approximately every 5 years. Manufacturers have designed chairs that can change seat width and depth, but often proper setup is sacrificed. Other manufacturers have a trade-in program or “growth kit” option to allow for a more appropriately sized and setup frame to be delivered when needed.

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FIG. 21.8 A-B, Manual wheelchair setup.

FIG. 21.9 SmartWheel.

(Courtesy of Out Front, Mesa, Arizona.)

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The seating components of either a power or manual wheelchair are prescribed with skin protection and spinal alignment in mind (see Chapter 33 for additional information). A level pelvis decreases the amount of pressure placed over individual ischial tuberosities of the sacrum, thereby improving overall pressure distribution. A solid seat and back are preferred to sling upholstery in this age group. Many types of wheelchair cushions are available, but none is universally effective for maintaining skin integrity in all persons with SCI, and individual assessment is required to minimize ulcerative forces (pressure, shear, friction and moisture). Wheelchair positioning and fit can also limit the development of secondary peripheral neuropathies. Too frequently, peroneal nerve neuropathies are seen as a result of the lateral lower leg, just distal to the head of the fibula, resting against the front end or leg rest of the wheelchair. Additionally, some children and teens use an upper extremity to “hook” around a back cane of a wheelchair for either pressure relief or to assist with balance. Excessive pressure in the antecubital fossa over time may cause median nerve neuropathy. Wheelchair evaluations can occur in all settings, but often the first time is in the rehabilitation setting. During this time it is best to trial as many wheelchair frames and seating systems as possible to determine what is clinically most appropriate and what the child and parents like best. If no change in neurologic status and function is expected, the wheelchair must be ordered as soon as possible, although because it is unlikely that the new wheelchair will arrive before discharge, a rental wheelchair may be necessary. As the child grows, wheelchair evaluations may occur at the rehabilitation hospital, at an outpatient facility, or in school. All wheelchairs and ECUs should be chosen by the rehabilitation team, child, and family in consultation with a knowledgeable vendor (see Chapter 33). The therapist should be aware of available funding for wheelchairs and other durable medical equipment. There may be limitations in coverage, and the therapist can assist the family in prioritizing equipment needs. The physical therapist will address a variety of skills. There is no set time to initiate these mobility skills, and the appropriate timing depends on the child’s age currently and age at injury, their abilities, and the environments in which they typically interact.

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Some of these skills include propulsion over even and uneven terrain, negotiation of obstacles, ascending and descending ramps and curbs, assuming a wheelie, falls, and stairs (www.scipt.org).

Ambulation For those with absent or limited active hip flexion, a hip-kneeankle-foot orthosis (HKAFO) may be prescribed. The hip joint can be locked for a swing-through gait pattern and unlocked to use active hip flexion for a reciprocal gait. Another option is an reciprocating gait orthose (RGO), which has a cable system that allows for passive reciprocating gait, but the child must be adept at weight shifting and trunk extension. Children who have at least three-fifths strength in the quadriceps muscles or stronger hip flexors can achieve ambulation with KAFOs. The swing-through gait pattern is more efficient than other gait patterns. Many adults who have RGOs or knee-ankle-foot orthoses (KAFOs) prescribed do not use them at all in the long term, and the majority of the remaining patients use them only for standing or exercise. Children with lower-level injuries, L3 and below, and some incomplete injuries may achieve independent ambulation with ankle-foot orthoses (AFOs). Ambulation typically also requires an upper extremity assistive device, particularly for those using H/KAFOs and RGOs. Gait training may be initiated in parallel bars and advance to use of an appropriate assistive device (typically front wheeled walkers or Loftstrand crutches) as the child improves in standing balance. Parastance, where the hips and lower trunk are in excessive extension and balance is achieved by resting on the yligaments in the hip, must be achieved in order for those ambulating with H/KAFOs to be successful. Donning and doffing, and general orthoses management, must be taught and practiced with both the child and caregivers. Controlled sit-to-stand transitions must also be practiced. Preschool-age children (5 years and younger) are more likely to pursue ambulation, perform a higher level of ambulation, and ambulate for a longer number of years as compared to older children and adolescents.146 Once these younger children enter the preteen and adolescent period, however, ambulation is typically

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abandoned for wheeled mobility beyond an indoor home or school level in order to keep up with peers.146 For children who wish to be upright for physiologic and psychological benefits but do not necessarily wish to ambulate, various devices are available. A standing frame (Fig. 21.10B) can be used for static standing, but there are also parapodiums (Fig. 21.10A) or swivel standers, which have a footplate that, in combination with an assistive device, allows a child to swivel the trunk for very short distance mobility. Mobile standers (Fig. 21.10C) are also available in which a child can assume a standing position while propelling with large, wheelchair-like wheels (see the video that accompanying Chapter 21 ).

FIG. 21.10 A-C, Options for static and mobile standing.

Locomotor training (LT) is an activity-based therapy that typically consists of step training via a body-weight-supported (BWS) system, initially on a treadmill often followed by overground gait training. BWS systems are commercially available; some are developed specifically for use overtop a treadmill, whereas others use a track from a ceiling allowing for more movement. The term activity-based therapy is used to describe an intervention that results in neuromuscular activation below the level of spinal cord lesion to promote recovery of motor function, thus demonstrating the neuroplasticity of the spinal cord.8-10 A reported goal of LT is to

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stimulate the locomotor central pattern generators (CPGs) in the spinal cord.52 It is believed that reflexive movements of ambulation can be restored by stimulating these CPGs through the repetitive motion.52 One case study in which LT was performed as part of a young child’s acute inpatient rehabilitation demonstrated the return of isolated volitional contractions of lower extremity muscles and significant gains in functional mobility.117 Research continues in this area, but early results are promising and suggest the potential value of incorporating LT into physical therapy intervention.10 Ambulation may also be achieved by using a robotically assisted walking device. These systems allow users to stand and ambulate by wearing an exoskeleton “suit” that provides motorized assistance to leg musculature. There are specific criteria for their use. Most require the user to be able to shift weight in order to activate the motor and therefore take a step. These robotic systems are geared toward adults, as another criterion for use is based on weight and height. There are systems designed for use with a physical therapist in the medical setting as well as devices for personal use.

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FIG. 21.11 A 5-year-old child with Spina Bifida using

the RT300-SLP FES cycle. (Courtesy Restorative-Therapies, Inc., Baltimore, Maryland.)

Functional Electrical Stimulation for Children Cycling with FES has gained increased popularity as an activitybased rehabilitation strategy to encourage neuroplasticity and health gains for people with SCI. FES during cycling can be performed at home, and cycles appropriately sized for children are now available (Fig. 21.11). The cycles are FDA approved for children ages 4 years and older; however, the primary limiting factor is the child’s size. Typically the bilateral quadriceps, hamstrings, and gluteal muscles are stimulated at the appropriate times during the revolution of the cycle. This intervention has been applied to people with SCI with and without lower extremity sensation. For children with sensation, the FES can be gradually

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applied and limited in intensity in order to not exceed the child’s tolerance. Exercise protocols in the literature commonly involve cycling for 30 to 60 minutes three to five times per week at cadences of 40 to 50 revolutions per minute (rpm).54 The ideal protocol, however, is not known, especially for children. The only published literature with children applied FES cycling for 60 minutes, three times per week, at a cadence of 40 to 50 rpm.77 Outcomes reported for FES cycling with adults include improvements in bone mineral density,11,31,40 strength in stimulated muscles,77 muscle size,40,55,64 oxygen uptake,40,65,77 cardiac output,49,65 stroke volume,49 and decreased adiposity.64,124 In children, the literature is more limited with changes reported in bone mineral density,77 oxygen uptake,75,77 muscle volume,77 stimulated muscle strength,77 as well as decreased resting heart rate.77 In addition, FES cycling has been shown not to increase the degree of hip subluxation after 6 months of cycling.75 Most clinically available applications for FES in pediatric SCI use electrodes placed on the skin surface. For all FES applications, a critical portion of the evaluation is the determination of the ability to stimulate the muscle.106,134 With a lower motor neuron injury, muscle cannot be adequately stimulated and FES is therefore not appropriate.72 For example, a child with a C5 SCI is likely to have lower motor neuron damage to C6 due to concomitant damage to the alpha motor neuron or nerve root at C6, and thus stimulation for wrist extension may be problematic. A thorough evaluation using electrical stimulation will provide information as to what muscles are appropriate for FES applications. FES walking options using surface stimulation for standing and walking are known as neuroprostheses. These systems use the peroneal withdrawal reflex to mimic a step, allowing the leg to advance.81 The commercially available system is only approved for use when skeletally mature; however, the peroneal withdrawal reflex can be obtained using a portable neuromuscular electrical stimulation (NMES) unit and a trigger if desired for children with incomplete SCI who have some ability to maintain stability during stance. For this technique, an electrode is placed near the fibular head and stimulation intensity is set high enough to cause the leg to withdraw into flexion. Another option during gait for a child with

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an incomplete SCI is to use a portable NMES unit to create dorsiflexion.116 For both applications during gait, a switch can be placed into the shoe to control the timing of the FES. Surface systems are commercially available for specific applications such as foot drop or hand function and are available in pediatric sizes. To provide these applications without a commercially available surface system, a more generic neuromuscular electrical stimulation NMES device can be used, and the ability to use a trigger or switch to turn on the stimulation is important for FES applications. Common stimulation parameters for FES include pulse duration sufficient to create a muscle contraction (200 to 400 usec) and a low frequency, measured in pulses per second (pps) (20 to 30 pps) to minimize fatigue. On and off times will be determined by the activity itself, and ramp time can be set for comfort or to minimize spasticity as long as it does not impact the timing of the activity (i.e., during gait when on times are very short).77 Implanted devices have been used in pediatric clinical and research applications including facilitation of grasp, standing and walking, bladder and bowel function,132 and phrenic or diaphragmatic pacing.48,126 Phrenic and diaphragmatic pacing systems are FDA approved for use in children. With this device, bilateral phrenic nerve electrodes are placed thoracoscopically and after a period of conditioning can provide full-time ventilatory support without a mechanical ventilator.48 A report of nine children implanted with the phrenic pacemaker showed that eight were able to meet their pacing goals.126

Coordination/Communication/Consultation While hospitalized, the child and adolescent must practice mobility skills outside the structured therapy sessions. For instance, nurses should be updated on progress in mobility skills so that the child can be encouraged to incorporate these abilities into play activities or getting to meals. Community and school reentry activities are often the combined responsibility of physical therapists, occupational therapists, and therapeutic recreation specialists. Children must become familiar with common architectural barriers such as curbs, heavy doors, and

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high shelves and learn how to negotiate them or ask for help. Caregivers need to be trained in the type and amount of assistance to provide and cautioned against being overly helpful. Teenagers should be encouraged to problem solve the management of architectural barriers and ask for assistance if safety is jeopardized. Discharge planning and long-term management should address mobility issues in the child’s home, school, and community. Whenever possible, a home evaluation should be conducted early in the child’s hospital stay. If home modifications are necessary for wheelchair accessibility or safety, the family needs time to gather financial resources and complete modifications. Physical therapists may be asked to consult regarding modifications being made to the home. The US Department of Housing and Urban Development has resources available and has published guidelines on making homes more accessible.118,139 These modifications can be evaluated during weekend passes. Public schools employ physical therapists and occupational therapists who can provide accessibility information while the child is still hospitalized. Upon school entry, the child can be assisted with accommodations under the provisions of Section 504 of the Vocational Rehabilitation Act of 1973.140 The therapist plays a major role as a consultant to the school administration, faculty, family, and student regarding accessibility issues and needed modifications to architectural barriers or curriculum. For children living great distances from the hospital, physical therapists in the school can provide a local perspective and become a resource to the family. Another area of concern in community reentry is safe transportation. The physical therapist can assist the family with evaluating safe transportation for the child. If a van will be used, wheelchair tie-downs will be necessary. If the child has a lower thoracic injury with adequate balance and can sit in a vehicle seat, an appropriate car seat or booster seat may be needed. For teenagers, friends may need to be trained in car transfers so that the patient can stay socially active. The teenager returning to driving needs to be independent with transfers and with loading and unloading the wheelchair.

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Cardiovascular fitness is a major health concern in the SCI population. Adults with tetraplegia have a 16% increased risk of cardiovascular diseases as compared to the general population, whereas those with paraplegia have a 70% greater risk of coronary artery disease (a subset of the cardiovascular diseases).107 Greater risk (44%) of cardiovascular diseases is also seen with complete versus incomplete SCI. The prevalence of cardiovascular disease in the SCI population is difficult to estimate because of the presence of silent ischemia that may go undetected, but cardiovascular disease has been reported to be the leading cause of death for people with SCI of greater than 30 years in duration. These data suggest that interventions are desperately needed to decrease the incidence of cardiovascular disease in the SCI population.107 People with SCI tend to lead sedentary lifestyles, which further increases their risk for coronary heart disease (CHD).68 The level of inactivity seen in the SCI population poses a serious health risk because of the accompanying secondary health complications of CHD, obesity, and diabetes.58,115 Voluntary exercise, however, is difficult for many people with SCI based on the extent of the paralysis, lack of proper exercise equipment, and lack of trained professionals to provide guidance. Although people with paraplegia have more capability to exercise, they are not more fit than people with tetraplegia who have fewer exercise options.108 In addition, 25% of healthy young people with SCI lack the fitness levels to perform important daily activities.108 Given the significant impact that SCI has on cardiovascular health, compounded with the lack of availability and need for exercise in this population, there is a dire need for exercise interventions. Regular exercise can decrease the extent of the metabolic, skeletal, and muscle complications for people with SCI.73,108,109 Some options for exercise include upper extremity ergometry, FES-assisted activity, swimming, and adapted sports.68,107 Strong level 1 evidence exists for the ability of upper extremity exercise to improve cardiovascular fitness and oxygen uptake.149 Central effects (heart and lungs) of exercise reported with people with SCI include increases in peak oxygen uptake up to 65%, as well as improvements in stroke volume of approximately 16%.115 In addition, regular exercise can have a positive impact on lipid

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profiles107,149 and glucose homeostasis.149 The evidence suggests that more intense exercise than currently being performed may be needed to have an impact on lipids post SCI and that effects are possible with both arm exercise and FES cycling.149 Little research has been done on health and fitness in children with SCI, but with the increasing prevalence of obesity among children as a whole, intervening early with children with SCI may help to develop healthy habits that persist into adulthood. Some evidence suggests that 10- to 21-year-old children with SCI have an increased incidence of metabolic syndrome (present in 11 out of 20 children),109 decreased lean tissue mass compared to overweight and control subjects,87 increased fat mass (by 22.9% with paraplegia and 25.9% with tetraplegia),94 and decreased aerobic capacity compared to controls.149 In addition, children 5 to 13 years of age have been shown to have decreased aerobic capacity.74 Exercise interventions targeting some of these deficits have been limited.86 Liusuwal and colleagues87 studied the outcomes of a 16-week program targeting nutrition, exercise (aerobic and resistance training), and lifestyle change and reported increases in lean body tissue and in power and efficiency during an upper extremity ergometry test. Johnston and colleagues76 studied the effects of 6 months of FES cycling and reported increases in peak oxygen uptake during an upper extremity ergometry test. These studies suggest that exercise can have a positive impact on the health of children with SCI; however, more research is needed to determine optimal ways to address the health concerns for people with SCI.

Sports and Recreation Therapists should encourage regular aerobic exercise in children and young adults with SCI to help them develop lifelong habits that promote health, particularly because of their general tendency toward lower-intensity, more sedentary leisure activities.71 With childhood obesity and type 2 diabetes rates on the rise in the pediatric population, those with SCIs are at greater risk. A majority of children and teens are not involving themselves in organized activities such as sports, clubs, or those offered by youth centers.71 Therapeutic recreation specialists facilitate participation in an

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adaptive physical education program, community-based recreational programs for people with disabilities, or competitive wheelchair sports. Offering specific recreation programs during inpatient rehabilitation or camps after discharge can significantly contribute to overall rehabilitation and quality-of-life outcomes.

Psychosocial Aspects A team member skilled in mental health should monitor the child’s adaptation to disability and be available to help the child verbally process the injury and rehabilitation. This could be a skilled social worker, but if a behavior management program using reinforcers is needed, a clinical psychologist should be consulted. In rare cases, the child may truly be clinically depressed, and a psychiatrist can be consulted if a medication trial is contemplated. As described by Fordyce,53 acquisition of an SCI accompanied by pain, medical complications, altered cosmesis, and body image and the new and challenging rehabilitation procedures can be expected to have a significant impact on the patient’s affect, self-esteem, and behavior. The child’s adjustment to SCI does not necessarily follow predictable stages of crisis response such as shock, denial, depression, and adaptation. Adjustment to SCI probably occurs over several years. The verbal or attitudinal expressions of children with a new SCI are less predictive of outcome than are their behaviors. Physical therapists can facilitate adjustment by actively engaging the child in acquiring the skills needed to maximize independence. Therapists must include parents and caregivers when teaching these skills to children and adolescents, and they must not forget the importance for adolescents of incorporating peers. The psychologist or psychiatrist may also need to confront issues of premorbid risk-taking behavior or even substance abuse. Psychologists, nurses, and pediatric physiatrists collaborate in discussing sexuality and changes in sexual functioning with teenagers who have had SCI. Sexuality is often a difficult topic to approach with teens and their caregivers. If a teen is not ready to verbalize questions or concerns related to sexuality, there are a number of online resources from adult spinal cord injury model systems that may provide additional assistance, such as University

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of Alabama at Birmingham (www.spinalcord.uab.edu). A concern commonly expressed by teenagers is that of not being able to trust their bodies. The altered motor and sensory processes and potential changes in bowel and bladder function can make their bodies feel foreign to them. In addition, teenagers are accustomed to privacy and independence in their lives. Both the injury and subsequent reliance on a hospital environment, adaptive equipment, and caregivers can disrupt any sense of control. The rehabilitation team should respect privacy and encourage participation in scheduling therapy, nursing care, and free time.

Quality of Life Physical therapists can have a positive impact on quality-of-life issues a child may face as a result of SCI. Chronic pain has been determined to be one of the most common69 and limiting factors in terms of quality of life following SCI, resulting in decreased perceived mental and physical health, as well as decreased activity levels142 (although activity does not seem to decrease as significantly as in the adult population70). Musculoskeletal pain is most prevalent in the shoulder, elbow, and wrist. Visceral pain is also frequently identified, particularly originating from the genitourinary tract, as is neuropathic pain.69 Depression can hinder quality of life and life satisfaction as it limits community participation and self-inclusion in activities. Adults with pediatric-onset SCI experience depression to varying degrees, which is related to medical complications, perceived mental-health quality of life, occupation, and the severity of their injuries (complete versus incomplete).5 By being aware of these potential issues, physical therapists can monitor for them and make referrals to appropriate providers as necessary. By constantly monitoring developmental changes and a child’s participation, age-appropriate habilitation and rehabilitation can be addressed as needed.

Follow-Up and Transition to 1721

Adulthood The key to ensuring maximal participation in young children with SCI is to provide ongoing examination of impairments and activity and to regularly update expected outcomes that are appropriate. At least two mechanisms are available to accomplish this objective. Children who are discharged from rehabilitation centers are routinely seen in follow-up visits two or more times each year. These reassessments include medical follow-up to reexamine the level and completeness of injury, to evaluate changes in bladder and bowel function and skin integrity, to monitor the spine and hip for development of scoliosis and hip subluxation/dislocation, respectively, to determine the need for medications to treat spasticity or bladder or bowel incontinence, and developmental appropriateness. Reexamination by the physical therapist is an important part of these follow-up visits. Any changes should be noted, including changes in ROM, strength, sensation, and spasticity. For children, age-appropriate habilitative skills can be taught (i.e., selfcatheterization, skin checks, advanced wheelchair skills, and transfers). The wheelchair should be reassessed and adapted as needed to accommodate the child’s growth and to ensure that any modifications enhance positioning and propulsion independence. The physical therapy reexaminations at the rehabilitation facility follow a consultative model. The ongoing progress toward ageappropriate outcomes may occur in a hospital-based outpatient therapy program, but it is more typically accomplished through therapy services offered in the outpatient physical therapy setting, early intervention programs, or in publicly funded schools. Therapists in these programs ideally are in contact with the rehabilitation centers on a regular basis to update progress and goals and to identify new concerns and equipment needs. Although the majority of young school-age children with SCI receive direct physical therapy and occupational therapy services in school, few adolescents receive such services.90 The therapist works from a consultative model, using the faculty and student to carry out programs and recommendations. Issues may include supporting the teen to continue with regular pressure releases,

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stretching and impairment-based home activities, and progressing mobility skills to community distances. The physical therapist and occupational therapist should also consult with the faculty and student regarding an appropriate physical education program; modification of classroom and desk setup; and accessibility to lockers, bathroom, and lunchroom. In reality, many adolescents with SCI have no physical education program, face problems of accessibility at school, and report that breakdown of wheelchairs (both power and manual) contributes to absences at school.90 Although completion of education is supported by accommodations and modifications, such supports are more often implemented to enhance the child’s participation in classroom activities and are not geared toward competitive performance and productivity. Therapists should assist adolescents in achieving independence with assistive technology for mobility, communication, and environmental control. Skills development in directing and managing human assistants may also be needed.46 Few adolescents with SCI receive educational or vocational counseling beyond the selection of classes each term.90 Such students may qualify for transition planning under the Individuals with Disabilities Education Act, Public Law 105-17.138 School physical therapists might participate in a transition program by assessing functional mobility skills in the community or work-study setting. When teenagers with SCI become 18 years of age, they are eligible in the United States for state vocational counseling services. Such services are often important sources of funding for vocationrelated education or even equipment. The importance of facilitating education and employment is underscored by research showing that the life satisfaction of adults with pediatric-onset SCI is associated with education, income, satisfaction with employment, and social opportunities but not with level of, age at, or duration of SCI.144 For teenagers, follow-up visits should also include discussions related to sexuality and reproduction.85 Fertility in women is not impaired by SCI, but sexual response and orgasm may be. Pregnant women with SCI should be managed at high-risk medical centers to avoid respiratory and urinary tract complications, detect threatened preterm births, and prevent autonomic dysreflexia during delivery.

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Although the majority of males with SCI can have erections, these are often fleeting and not adequate for vaginal penetration. Few men with SCI have ejaculations, and sperm quality decreases over time for reasons that are not entirely clear. New techniques for retrieval of sperm and for artificial insemination have helped some men with SCI to father children. In addition to this physiologic information, it is important to include issues of intimacy and relationships in candid discussions of sexuality. Successful transition to adulthood is a goal of all children/adolescents with SCI. The rehabilitation team plays an important role in fostering success. Transition into a spinal cord injury model system (www.mscisdisseminationcenter.org) is ideal to continue specialized care; however, travel to these facilities may not be feasible. Continued care from a specialized center will not only provide optimum medical care but will also support the services required for seeking education, vocational development, and independent living. Many adults with pediatric-onset SCI do complete an education level equivalent to noninjured peers; however, employment rate, income, rate of independent living, and marital status do not correlate with noninjured peers.4 See Chapter 32 for more information.

Summary Physical therapy for the child with SCI can, at first glance, appear straightforward. Preserving ROM and promoting strength and endurance are the cornerstones for the functional achievement predicted by the level of injury. Yet predicting realistic long-term outcomes and attaining them require respect for the broader and more complex picture. The physical therapist must consider the cause of the injury (progressive versus stable), the completeness of the injury (preserved motor function, sensory function), and the potential for, or presence of, secondary complications (scoliosis, skin breakdown, contractures). The therapist must also be sensitive to the child’s age, personal and environmental factors, and the child’s ability to meet age-appropriate expectations in the home, school, and community. Unlike adults with SCI, who may be very close to expected levels of independence at discharge from inpatient

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rehabilitation, children often require years of outpatient therapy to achieve optimal outcomes. Thus, it becomes imperative to provide the child and the family with a team approach incorporating multiple disciplines and settings to maximize the child’s potential for functional independence and participation in life roles.

Case Scenarios on Expert Consult The cases related to this chapter present three case scenarios (Stacey, Alex, and Adam) with additional videos. They illustrate some of the management principles discussed in this chapter.

References 1. Allen D.D, et al. Motor scores on the Functional Independence Measure after pediatric spinal cord injury. Spinal Cord. 2009;47:213–217. 2. American Spinal Injury Association. International standards for neurological and functional classification of spinal cord injury. Chicago: American Spinal Injury Association; 2000. 3. Anderson C.J, DeVivo M. Mortality in pediatric spinal cord injury. Paper abstract #10. J Spinal Cord Med. 2004;27:S113. 4. Anderson C.J, et al. Overview of adult outcomes in pediatric-onset spinal cord injuries, implications for transition to adulthood. J Spinal Cord Med. 2004;27:S98–S106. 5. Anderson C.J, et al. Depression in adults who sustained spinal cord injuries as children or adolescents. J Spinal Cord Med. 2007;30:S76–S82. 6. Anderson R, et al. Untitled selection of rigid internal fixation construct for stabilization at the craniovertebral junction in pediatric patients. J Spinal Cord Med. 2007;30(Suppl):S193–S194 [abstract]. 7. Baptiste D.C, Fehlings M.G. Pharmacological approaches to repair the injured spinal cord. J Neurotrauma. 2006;23:318– 334. 8. Behrman A.L, Harkema S.J. Locomotor training after human spinal cord injury: a series of case studies. Phys

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Ther. 2000;80:688–700. 9. Behrman A.L, Harkema S.J. Physical rehabilitation as an agent for recovery after spinal cord injury. Phys Med Rehabil Clin N Am. 2007;18:183–202. 10. Behrman A.L, et al. Restorative rehabilitation entails a paradigm shift in pediatric incomplete spinal cord injury in adolescence: an illustrative case series. J Pediatr Rehabil Med. 2012;5:245–259. 11. Belanger M, et al. Electrical stimulation: can it increase muscle strength and reverse osteopenia in spinal cord injured individuals? Arch Phys Med Rehabil. 2008;81:1090– 1098. 12. Betz R.R, Mulcahey M.J. Pediatric spinal cord injury. In: Vaccaro A.R, et al., ed. Principles and practice of spine surgery. Philadelphia: Mosby; 2003. 13. Betz R.R, et al. Sagittal analysis of patients with spinal cord injury: a radiographic analysis and implications for treatment. Poster presentation abstract #36. J Spinal Cord Med. 2004;27:S135. 14. Bilston L.E, Brown J. Pediatric spinal injury type and severity are age and mechanism dependent. Spine. 2007;32:2339–2347. 15. Bohn D, et al. Cervical spine injuries in children. J Trauma. 1990;30:463–469. 16. Bosch P.P, et al. Pediatric spinal cord injury without radiographic abnormality (SCIWORA): the absence of occult instability and lack of indication for bracing. Spine. 2002;27:2788–2800. 17. Bracken M.B, et al. A randomized, controlled trial of methylprednisolone or naloxone in the treatment of acute spinal cord injury: results of the second national acute spinal cord injury study. N Eng J Med. 1990;332:1405–1411. 18. Bracken M.B, et al. Efficacy of methylprednisolone in acute spinal cord injury. JAMA. 1984;251:45–52. 19. Bracken M.B, et al. Methylprednisolone for 24 or 48 hours or tirilazad mesylate for 48 hours in the treatment of acute spinal cord injury: results of the Third National Acute Spinal Cord Injury Randomized Controlled Trial. National

1726

Acute Spinal Cord Injury Study. JAMA. 1997;277:1597–1604. 20. Brown P.J, et al. The 72-h examination as a predictor of recovery in motor complete quadriplegia. Arch Phys Med Rehabil. 1991;72:546–548. 21. Brown R.L, et al. Cervical spine injuries in children: a review of 103 patients treated consecutively at a level 1 pediatric trauma center. J Pediatr Surg. 2001;36:1107–1114. 22. Calhoun C.L, et al. Development of items designed to evaluate activity performance and participation in children and adolescents with spinal cord injury. Int J Pediatr. 2009:854904. 23. Calhoun C.L, et al. Recommendations for mobility in children with spinal cord injury. Top Spinal Cord Inj Rehabil. 2013;19:142–151. 24. Cappuccino A. Moderate hypothermia as treatment for spinal cord injury. Orthopedics. 2008;31:243. 25. Cardenas D.D, et al. A bibliography of cost-effectiveness practices in physical medicine and rehabilitation, American Academy of Physical Medicine & Rehabilitation white paper. Arch Phys Med Rehabil. 2001;82:711–719. 26. Catz A, Itzkovich M. Spinal Cord Independence Measure: comprehensive ability rating scale for the spinal cord lesion patient. J Rehabil Res Dev. 2007;44:65–68. 27. Catz A, et al. SCIM: Spinal Cord Independence Measure: a new disability scale for patients with spinal cord lesions. Spinal Cord. 1997;35:850–856. 28. Catz A, et al. The Spinal Cord Independence Measure (SCIM), sensitivity to functional changes in subgroups of spinal cord lesion patient. Spinal Cord. 2001;39:97–100. 29. Chafetz R.S, et al. Relationship between neurological injury and patterns of upright mobility in children with spinal cord injury. Top Spinal Cord Inj Rehabil. 2013;19:31–41. 30. Chafetz R.S, et al. Impact of prophylactic thoracolumbosacral orthosis bracing on functional activities and activities of daily living in the pediatric spinal cord injury population. J Spinal Cord Med. 2007;30:S178–S183. 31. Chen S.C, et al. Increases in bone mineral density after functional electrical stimulation cycling exercises in spinal

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cord injured patients. Disabil Rehabil. 2005;27:1337–1341. 32. Chen Y, DeVivo M.J. Epidemiology. In: Vogel L.C, et al., ed. Spinal cord injury in the child and young adult. London: Mac Keith Press; 2014:15–27. 33. Chen Y, et al. Causes of spinal cord injury. Top Spinal Cord Inj Rehabil. 2013;19:1–8. 34. Cirak B, et al. Spinal injuries in children. J Pediatr Surg. 2004;39:607–612. 35. Clayton G.H, et al. The use of push-rim power-assist wheels in three pediatric patients. Poster presentation abstract #13. J Spinal Cord Med. 2004;27:S126. 36. Committee on Genetics. American Academy of Pediatrics: health supervision for children with Down syndrome. Pediatrics. 2001;107:442–449. 37. Consortium for Spinal Cord Medicine. Outcomes following traumatic SCI: clinical practice guidelines for healthcare professionals. Washington, DC: Paralyzed Veterans of America; 1999. 38. Consortium for Spinal Cord Medicine: Clinical practice guideline. Pressure ulcer prevention and treatment following spinal cord injury: a clinical practice guideline for health care professionals. ed 2. Washington, DC: Paralyzed Veterans of America; 2014. . 39. Consortium of Spinal Cord Medicine: Clinical practice guideline. Preservation of upper limb function following spinal cord injury: a clinical practice guideline for healthcare professionals. Washington, DC: Paralyzed Veterans of America; 2002. 40. Davis G.M, et al. Cardiorespiratory, metabolic, and biomechanical responses during functional electrical stimulation leg exercise: health and fitness benefits. Artif Organs. 2008;32:625–629. 41. DeVivo M.J, Vogel L.C. Epidemiology of spinal cord injury in children and adolescents. J Spinal Cord Med. 2004;27:S4– S10. 42. Dididze M, et al. Systemic hypothermia in acute cervical spinal cord injury: a case-controlled study. Spinal Cord. 2013;51:395–400.

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43. Di Martino A, et al. Pediatric spinal cord injury. Neurosurg Q. 2004;14:84–197. 44. Ditunno J.F, et al. Recovery of upper-extremity strength in complete and incomplete tetraplegia: a multicenter study. Arch Phys Med Rehabil. 2000;81:389–393. 45. Dobkin B.H, et al. Cellular transplants in China: observational study from the largest human experiment in chronic spinal cord injury. Neurorehabil Neural Repair. 2006;20:5–13. 46. Dudgeon B.J, et al. Educational participation of children with spinal cord injury. Am J Occup Ther. 1997;51:553–561. 47. Dumas H.M, et al. Self-report measures of physical function for children with spinal cord injury: a review of current tools and an option for the future. Dev Neurorehabil. 2009;12:113–118. 48. Elefteriades J.A, et al. Long-term follow-up of pacing of the conditioned diaphragm in quadriplegia. Pacing Clin Electrophysiol. 2002;25:897–906. 49. Faghri P.D, et al. Functional electrical stimulation leg cycle ergometer exercise: training effects on cardiorespiratory responses of spinal cord injured subjects at rest and during submaximal exercise. Arch Phys Med Rehabil. 1992;73:1085– 1093. 50. Fehlings M.G, et al. The role and timing of decompression in acute spinal cord injury. Spine. 2001;26:S101–S110. 51. Field-Fote E.C. Spinal cord injury rehabilitation. Philadelphia: F.A. Davis; 2009. 52. Field-Fote E.C, Behrman A. Locomotor training after incomplete spinal cord injury, neural mechanisms and functional outcomes. In: Field-Fote E.C, ed. Spinal cord injury rehabilitation. Philadelphia: F.A. Davis; 2009. 53. Fordyce W.E. Behavioral methods in medical rehabilitation. Neurosci Biobehav Rev. 1981;5:391–396. 54. Fornusek C, Davis G.M. Cardiovascular and metabolic responses during functional electric stimulation cycling at different cadences. Arch Phys Med Rehabil. 2008;89:719–725. 55. Frotzler A, et al. High-volume FES-cycling partially reverses bone loss in people with chronic spinal cord

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injury. Bone. 2008;43:169–176. 56. Garcia R.A, et al. Functional improvement after pediatric spinal cord injury. Am J Phys Med Rehabil. 2002;81:458–463. 57. Giangregorio L, McCartney N. Bone loss and muscle atrophy in spinal cord injury, epidemiology, fracture prediction, and rehabilitation strategies. J Spinal Cord Med. 2006;29:489–500. 58. Ginis K.A, Hicks A.L. Considerations for the development of a physical activity guide for Canadians with physical disabilities. Can J Public Health. 2007;98(Suppl 2):S135–S147. 59. Glassman S.D, et al. Seatbelt injuries in children. J Trauma. 1992;33:882–886. 60. Glenn W.W, et al. Twenty years of experience in phrenic nerve stimulation to pace the diaphragm. Pacing Clin Electrophysiol. 1986;9:780–784. 61. Haley S.M, et al. Pediatric evaluation of disability inventory. Boston: New England Medical Center; 1992. 62. Hall E.D. Pharmacological treatment of acute spinal cord injury: how do we build on past success? J Spinal Cord Med. 2001;24:142–146. 63. Herzenberg J.E, et al. Emergency transport and positioning of young children who have an injury to the cervical spine. J Bone Joint Surg. 1989;71A:15–22. 64. Hjeltnes N, et al. Improved body composition after 8 wk of electrically stimulated leg cycling in tetraplegic patients. Am J Physiol. 1997;273:R1072–R1079. 65. Hooker S.P, et al. Physiologic effects of electrical stimulation leg cycle exercise training in spinal cord injured persons. Arch Phys Med Rehabil. 1992;73:470–476. 66. Hugenholtz H. Methylprednisolone for acute spinal cord injury: not a standard of care. Can Med Assoc J. 2003;168. 67. Hurlbert R.J. The role of steroids in acute spinal cord injury: an evidence-based analysis [review]. Spine. 2001;26(Suppl 24):S39–S46. 68. Jacobs P.L, Nash M.S. Modes, benefits, and risks of voluntary and electrically induced exercise in persons with spinal cord injury. J Spinal Cord Med. 2001;24:10–18 (and exercise and fitness).

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69. Janm F.K, Wilson P.E. A survey of chronic pain in the pediatric spinal cord injury population. J Spinal Cord Med. 2004;27:S50–S53. 70. Johnson K.A, Klaas S.J. The changing nature of play: implications for pediatric spinal cord injury. J Spinal Cord Med. 2007;30:S71–S75. 71. Johnson K.A, et al. Leisure characteristics of the pediatric spinal cord injury population. J Spinal Cord Med. 2004;27:S107–S109. 72. Johnston T.E, et al. Patterns of lower extremity innervation in pediatric spinal cord injury. Spinal Cord. 2005;43:476–482. 73. Johnston T.E, McDonald C.M. Health and fitness in pediatric spinal cord injury: medical issues and the role of exercise. J Pediatr Rehabil Med. 2013;6:35–44. 74. Johnston T.E, et al. Exercise testing using upper extremity ergometry in pediatric spinal cord injury. Pediatr Phys Ther. 2008;20:146–151. 75. Johnston T.E, et al. A randomized controlled trial on the effects of cycling with and without electrical stimulation on cardiorespiratory and vascular health in children with spinal cord injury. Arch Phys Med Rehabil. 2009;90:1379. 76. Johnston TE, et al.: A randomized controlled trial on the effects of cycling with and without electrical stimulation on cardiorespiratory and vascular health in children with spinal cord injury, Arch Phys Med Rehabil. In press. 77. Johnston T.E, et al. Outcomes of a home cycling program using functional electrical stimulation or passive motion for children with spinal cord injury: a case series. J Spinal Cord Med. 2008;31:215–221. 78. Kakulas B.A. A review of the neuropathology of human spinal cord injury with emphasis on special features. J Spinal Cord Med. 1999;22:119–124. 79. Kigerl K, Popovich P. Drug evaluation, ProCord: a potential cell-based therapy for spinal cord injury. IDrugs. 2006;9:354–360 [abstract]. 80. Kirshblum S.C, et al. International standards for neurological classification of spinal cord injury. J Spinal Cord Med. 2011;34:535–554.

1731

81. Klose K.J, et al. Evaluation of a training program for persons with SCI paraplegia using the Parastep 1 ambulation system, Part 1. Ambulation performance and anthropometric measures. Arch Phys Med Rehabil. 1997;78:789–793. 82. Krey C.H, Calhoun C.L. Utilizing research in wheelchair and seating selection and configuration for children with injury/dysfunction of the spinal cord. J Spinal Cord Med. 2004;27(Suppl 1):S29–S37. 83. Lammertse D.P. Invited review: update on pharmaceutical trials in acute spinal cord injury. J Spinal Cord Med. 2004;27:319–325. 84. Lauer R.T, et al. Bone mineral density of the hip and knee in children with spinal cord injury. J Spinal Cord Med. 2007;30:S10–S14. 85. Lisenmeyer T.A. Sexual function and infertility following spinal cord injury. Phys Med Rehabil Clin N Am. 2000;11:141– 156. 86. Liusuwan R.A, et al. Behavioral intervention, exercise, and nutrition education to improve health and fitness (BENEfit) in adolescents with mobility impairment due to spinal cord dysfunction. J Spinal Cord Med. 2007;30(Suppl 1):S119–S126. 87. Liusuwan R.A, et al. Body composition and resting energy expenditure in patients aged 11 to 21 years with spinal cord dysfunction compared to controls: comparisons and relationships among the groups. J Spinal Cord Med. 2007;30(Suppl 1):S105–S111. 88. Mandabach M, et al. Pediatric axis fractures: early halo immobilization, management and outcome. Pediatr Neurosurg. 1993;19:225–232. 89. Mange K.C, et al. Recovery of strength at the zone of injury in motor complete and motor incomplete cervical spinal cord injured patients. Arch Phys Med Rehabil. 1990;71:562– 565. 90. Massagli T.L, et al. Educational performance and vocational participation after spinal cord injury in childhood. Arch Phys Med Rehabil. 1996;77:995–999. . 91. Massagli T.L, Reyes M.R. Hypercalcemia and spinal cord

1732

injury. 2008. http://emedicine.medscape.com/article/322109. 92. Maynard F.M, et al. Neurological prognosis after traumatic quadriplegia. J Neurosurg. 1979;50:611–616. 93. McCarthy J.J, et al. Incidence and degree of hip subluxation/dislocation in children with spinal cord injury. J Spinal Cord Med. 2004;27:S80–S83. 94. McDonald C.M, et al. Body mass index and body composition measures by dual x-ray absorptiometry in patients aged 10 to 21 years with spinal cord injury. J Spinal Cord Med. 2007;30(Suppl 1):S97–S104. 95. McDonald C.M, et al. Assessment of muscle strength in children with meningomyelocele: accuracy and stability of measurements over time. Arch Phys Med Rehabil. 1986;67:855–861. 96. McDonald J.W, et al. Late recovery following spinal cord injury: case report and review of the literature. J Neurosurg. 2002;97:252–265. 97. McGinnis K.B, et al. Recognition and management of autonomic dysreflexia in pediatric spinal cord injury. J Spinal Cord Med. 2004;27:S61–S74. 98. McKinley W.O, et al. Nontraumatic spinal cord injury, incidence, epidemiology, and functional outcome. Arch Phys Med Rehabil. 1999;80:619–623 [abstract]. 99. Mehta S, et al. Effect of bracing on paralytic scoliosis secondary to spinal cord injury. J Spinal Cord Med. 2004;27:S88–S92. 100. Meyer A. Pediatric mobility issues. Rehabil Management. 2008;21:20–23. 101. Molnar G.E, Alexander M.A. History and examination. In: Molnar G.E, ed. Pediatric rehabilitation. ed 3. Philadelphia: Hanley & Belfus; 1999:1–12. 102. Mulcahey M.J. An overview of the upper extremity in pediatric spinal cord injury. Top Spinal Cord Inj Rehabil. 1997;3:48–55. 103. Mulcahey M.J, et al. Children’s reports of activity and participation after sustaining a spinal cord injury: a cognitive interviewing study. Dev Neurorehabil. 2009;12:191– 200.

1733

104. Mulcahey M.J, et al. Children’s and parent’s perspectives about activity performance and participation after spinal cord injury: initial development of a patient reported outcome measure. Am J Occup Ther. 2010;64:605–613. 105. Mulcahey M.J, et al. The International Standards for Neurological Classification of Spinal Cord Injury: reliability of data when applied to children and youths. Spinal Cord. 2008;45:1–8. 106. Mulcahey M.J, et al. Evaluation of the lower motor neuron integrity of upper extremity muscles in high level spinal cord injury. Spinal Cord. 1999;37:585–591. 107. Myers J, et al. Cardiovascular disease in spinal cord injury, An overview of prevalence, risk, evaluation, and management. Am J Phys Med Rehabil. 2007;86:142–152. 108. Nash M.S. Exercise as a health-promoting activity following spinal cord injury. J Neurol Phys Ther. 2005;29:87–103 106. 109. Nelson M.D, et al. Metabolic syndrome in adolescents with spinal cord dysfunction. J Spinal Cord Med. 2007;30(Suppl 1):S127–S139. 110. Nesathurai S. Steroids and spinal cord injury: revisiting the NASCIS 2 and 3 trials. J Trauma. 1998;45:1088–1093. 111. Nichols D.S, Case-Smith J. Reliability and validity of the Pediatric Evaluation of Disability Inventory. Pediatr Phys Ther. 1996;8:15–24. 112. Nobunaga A.I, et al. Recent demographic and injury trends in people served by the Model Spinal Cord Injury Care Systems. Arch Phys Med Rehabil. 1999;80:1372–1382. 113. Ottenbacher K.J, et al. The stability and equivalence reliability of the Functional Independence Measure for children (WeeFIM). Dev Med Child Neurol. 1996;38:907–916. 114. Peckham P.H, et al. Efficacy of an implanted neuroprosthesis for resorting hand grasp in tetraplegia: a multicenter study. Arch Phys Med Rehabil. 2001;82:1380– 1388. 115. Phillips W.T, et al. Effect of spinal cord injury on the heart and cardiovascular fitness. Curr Probl Cardiol. 1998;23:641– 716. 116. Pierce S.R, et al. Comparison of percutaneous and surface

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functional electrical stimulation during gait in a child with hemiplegic cerebral palsy. Am J Phys Med Rehabil. 2004;83:798–805. 117. Prosser L.A. Locomotor training within an inpatient rehabilitation program after pediatric incomplete spinal cord injury. Phys Ther. 2007;87:1224–1232. 118. Residential Remodeling and Universal Design. Making homes more comfortable and accessible. Prepared by NAHB Research Center, Inc. US Department of Housing and Urban Development; May 1996. 119. Rhoney D.H, et al. New pharmacological approaches to acute spinal cord injury. Pharmacotherapy. 1996;16:382–392. 119a. Rosen L, Arva J, Furumasu J, Harris M, Lange M, McCarthy E, et al. RESNA position on the application of power wheelchairs for pediatric users. Assist Technol. 2009;21:218–226. 120. Rumball K, Jarvis J. Seat-belt injuries of the spine in young children. J Bone Joint Surg (Br). 1992;74:571–574. 121. Saboe L.A, et al. Early predictors of functional independence 2 years after spinal cord injury. Arch Phys Med Rehabil. 1997;78:644–650. 122. Samdani A.F. Commentary: spinal cord regeneration, injury modulation, repair strategies, and clinical trials: the Howard H. Steel Conference Precourse. J Spinal Cord Med. 2007;30(S1):S3–S4. 123. Scivoletto G, et al. Clinical factors that affect walking level and performance in chronic spinal cord lesion patients. Spine (Phila Pa 1976). 2008;33:259–264. 124. Scremin A.M, et al. Increasing muscle mass in spinal cord injured persons with a functional electrical stimulation exercise program. Arch Phys Med Rehabil. 1999;80:1531–1536. 125. Sharkey P.C, et al. Electrophrenic respiration in patients with high quadriplegia. Neurosurgery. 1989;24:529–535. 126. Shaul D.B, et al. Thoracoscopic placement of phrenic nerve electrodes for diaphragmatic pacing in children. J Pediatr Surg. 2002;37:974–978. 127. Shavelle R.M, et al. Long-term survival after childhood spinal cord injury. J Spinal Cord Med. 2007;30:S48–S54.

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128. Short D.J, et al. High dose methylprednisolone in the management of acute spinal cord injury: a systematic review from a clinical perspective. Spinal Cord. 2000;38:278– 286. 129. Reference deleted in proofs. 130. Sison-Williamson M, et al. Effect of thoracolumbosacral orthoses on reachable workspace volumes in children with spinal cord injury. J Spinal Cord Med. 2007;30:S184–S191. 131. Sisto S.A, et al. Spinal cord injuries, management and rehabilitation. St. Louis, MO: Mosby; 2009. 132. Spoltore T, et al. Innovative programs for children and adolescents with spinal cord injury. Orthoped Nurs. 2000;19:55–62. 133. Stein R.B, et al. Electrical systems for improving locomotion after spinal cord injury: an assessment. Arch Phys Med Rehabil. 1993;74:954–959. 134. Triolo R.J, et al. Application of functional electrical stimulation to children with spinal cord injuries: candidate for selection for upper and lower extremity research. Paraplegia. 1994;32:824–843. 135. Trotter T.L, et al. Health supervision for children with achondroplasia. Pediatrics. 2005;116:771–783. 136. Ugalde V, et al. Incidence of venous thromboembolism in patients with acute spinal cord injury by age. Paper abstract #6. J Spinal Cord Med. 2004;27:S112. 137. Urbina E, et al. Ambulatory blood pressure monitoring in children and adolescents, recommendations for standard assessment: a scientific statement from the American Heart Association Atherosclerosis, Hypertension, and Obesity in Youth Committee of the Council on Cardiovascular Disease in the Young and the Council for High Blood Pressure Research. Hypertension. 2008;52:433–451. 138. US Department of Education. 105th Congress. Public Law. 1997:105–117. 139. US Department of Housing and Urban Development: adaptable housing: a technical manual for implementing adaptable dwelling unit specifications. Publication # HUD1124-PDR, Barrier Free Environments, Inc.

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140. US Equal Employment Opportunity Commission. The Rehabilitation Act of 1973, sec. 504. 1973. 141. Vitale M.G, et al. Epidemiology of pediatric spinal cord injury in the United States, 1997 and 2000. J Spinal Cord Med. 2006;30:S196. 142. Vogel L.C, et al. Pain and its impact in adults with pediatric onset spinal cord injury. J Spinal Cord Med. 2007;30:S193. 143. Vogel L.C, et al. Spinal cord injuries in children and adolescents. In: Verhaagen J, McDonald III. J.W, eds. Handbook of clinical neurology. vol. 109. Amsterdam: Elsevier; 2012:131–148 Chapter 8. 144. Vogel L.C, et al. Long-term outcomes and life satisfaction of adults who had pediatric spinal cord injuries. Arch Phys Med Rehabil. 1998;79:1496–1503. 145. Vogel LC, et al.: Adults with pediatric-onset spinal cord injury, part 2, musculoskeletal and neurological complications, J Spinal Cord Med 25:117–123, 200. 146. Vogel L.C, et al. Ambulation in children and youth with spinal cord injuries. J Spinal Cord Med. 2007;30:S158–S164. 147. Vogel L.C, et al. Intra-rater agreement of the anorectal exam and classification of injury severity in children with spinal cord injury. Spinal Cord. 2009;47:687–691. 148. Wang M.Y, et al. High rates of neurological improvement following severe traumatic pediatric spinal cord injury. Spine. 2004;29:1493–1497. 149. Warburton D.E.R., et al.: Cardiovascular health and exercise following spinal cord. In Eng J.J., et al., editors: Spinal cord injury rehabilitation evidence, Vancouver, 2006, British Columbia, 7, 1–7, 28. 150. Waters R.L, et al. Prediction of ambulatory performance based on motor scores derived from standards of the American Spinal Injury Association. Arch Phys Med Rehabil. 1994;75:756–760. 151. Wilberger J.E. Spinal cord injuries in children. New York: Futura; 1986. 152. Wilson P.E, et al. Pediatric spinal cord tumors and masses. J Spinal Cord Med. 2007;30:S15–S20.

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Suggested Readings Calhoun C.L, et al. Recommendations for mobility in children with spinal cord injury. Top Spinal Cord Inj Rehabil. 2013;19:142–151. Chen Y, et al. Causes of spinal cord injury. Top Spinal Cord Inj Rehabil. 2013;19:1–8. Consortium of Spinal Cord Medicine. Clinical practice guideline. Preservation of upper limb function following spinal cord injury: a clinical practice guideline for healthcare professionals. Washington, DC: Paralyzed Veterans of America; 2002. Consortium for Spinal Cord Medicine. Clinical practice guideline. Pressure ulcer prevention and treatment following spinal cord injury: a clinical practice guideline for healthcare professionals. ed 2. Washington, DC: Paralyzed Veterans of America; 2014. Consortium for Spinal Cord Medicine. Outcomes following traumatic SCI: clinical practice guidelines for healthcare professionals. Washington, DC: Paralyzed Veterans of America; 1999. Field-Fote E.C. Spinal cord injury rehabilitation. Philadelphia: F.A. Davis; 2009. Harvey L.A, Somers M.F, Glinsky J.V. Physiotherapy management. In: Chhabra J.S, ed. ISCoS textbook on comprehensive management of spinal cord injuries. New Dehli, India: Wolters Kluwer; 2015:514–537 Chapter 34. Johnston T.E, McDonald C.M. Health and fitness in pediatric spinal cord injury: medical issues and the role of exercise. J Pediatr Rehabil Med. 2013;6:35–44. Kirshblum S.C, et al. International standards for neurological classification of spinal cord injury. J Spinal Cord Med. 2011;34:535–554. McCarthy J.J, et al. Incidence and degree of hip subluxation/dislocation in children with spinal cord injury. J Spinal Cord Med. 2004;27:S80–S83. McGinnis K.B, et al. Recognition and management of autonomic dysreflexia in pediatric spinal cord injury. J Spinal Cord Med. 2004;27:S61– S74. Mehta S, et al. Effect of bracing on paralytic scoliosis secondary to spinal cord injury. J Spinal Cord Med. 2004;27:S88–S92. Mulcahey M.J, et al. The International Standards for Neurological Classification of Spinal Cord Injury: reliability of data when applied to children and youths. Spinal Cord. 2007;45:1–8. Sisto S.A, et al. Spinal cord injuries, management and rehabilitation. St. Louis, MO: Mosby; 2009. Vogel L.C, et al. Spinal cord Injuries in children and

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adolescents. In: Verhaagen J, McDonald III. J.W, eds. Handbook of clinical neurology. vol. 109. Amsterdam: Elsevier; 2012:131–148 Chapter 8. Vogel L.C, et al. Ambulation in children and youth with spinal cord injuries. J Spinal Cord Med. 2007;30:S158–S164.

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Acquired Brain Injuries Trauma, Near-Drowning, and Tumors Michal Katz-Leurer, and Hemda Rotem

Acquired brain injury (ABI) in children is a highly stressful event for the child and the family. Damage occurring at a time of development extensively affects the child’s abilities to do what children usually do: play, learn, establish friendships, and gradually develop to become independent young adults. The injury commonly causes a variety of physical, emotional, cognitive, and behavioral impairments. Suddenly, the child’s expectations from life and the parents’ aspirations for their child may be dramatically changed. These unique emotional, social, and developmental needs of the child and family demand a holistic and inclusive approach by a multidisciplinary team, both as a team and by each member of the team as an expert in a unique specialty. This chapter focuses on the role of the physical therapist and the elements of patient/client management: examination, diagnosis, prognosis, and intervention strategies, with emphasis on the child with ABI and the parents and family as they progress through the rehabilitation process. ABI is a general categorization that describes any injury to the

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brain that occurs after birth and may be the result of trauma (e.g., head injury after traffic accidents, falls), anoxia (e.g., neardrowning), or a nontraumatic event (e.g., stroke, brain tumor, infection). ABI is the most common cause of morbidity and mortality in children and in young adults.35 ABI might cause a variety of disorders involving motor dysfunction, cognitive impairment, behavioral disturbance, emotional difficulties, and abnormal function of the autonomic nervous system. Even a mild injury might result in a serious disability that interferes with the child’s daily functioning and activities for the rest of his or her life. Different theories have been put forth regarding the recovery and adaptation processes of brain function following a brain injury. One theory suggests that intact areas of the brain that are anatomically linked to the damaged site might be functionally depressed. Because return of activity occurs in these functionally depressed areas, recovery of function might also occur.110 Another theory suggests that recovery and adaptation of brain function might occur as the original brain area responsible for that function recovers or through the adaptation of noninjured brain regions that normally contribute indirectly to that function. Furthermore, recovery of function occurs as a result of behavioral substitution in which new strategies are learned to compensate for the behavioral deficit.110 These theories serve as the foundation for a variety of interventions physical therapists use for children with ABI, ranging from preventive treatment with the expectation for brain function recovery at one end of the spectrum to a structured motor training program to facilitate compensation processes of brain function at the other. The latter is the source of many innovative treatment strategies for patients with brain damage. Advances in basic science have demonstrated morphologic changes in neural structures within the motor cortex during the process of motor skill acquisition, resulting in behavioral changes in motor performance.91 The use of functional neuroimaging techniques may help researchers and clinicians to clarify the effect of treatment on neural reorganization and to identify the sequence and timing of interventions that will optimally and efficiently improve function. Although the outcome of the injury depends largely on the nature and severity of the injury itself, appropriate and timely treatment

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may play a vital role in determining the level of recovery.73 The first part of this chapter describes the epidemiology, pathology, and prognosis of ABI among children and adolescents. Examples of three common causes of brain injury among children— trauma, near-drowning as an example of an anoxic event, and brain tumor—are described in detail. The second part focuses on foreground information related to physical therapy examination and intervention throughout the rehabilitation process.

Background Information Traumatic Brain Injury Epidemiology Traumatic brain injury (TBI) is the most common cause of acquired disability in childhood, with an incidence death rate of 4.5, a hospitalization rate for nonfatal TBI of 63, and an emergency department visit rate of 731 cases, all per 100,000 children aged 0 to 14 years per year in the United States.65 The most frequent causes of injury are motor vehicle accidents and falls, the latter being the primary cause among younger, preschool children; adolescents and young adults are more commonly injured in motor vehicle accidents. The incidence is higher in boys and highest in boys between the ages of 15 and 20 years, followed by children between the ages of 6 and 10 years.56 Other demographic and socioenvironmental factors associated with an increased risk of TBI include poverty, crowded neighborhoods, family instability, history of alcohol or drug abuse, and learning disability.61 Preexisting behavioral characteristics such as impulsivity and hyperactivity, as well as attention deficit disorder, have been associated with an increased risk of accidental injury15; the shaken baby syndrome resulting from vigorous shaking of an infant or small child by the shoulders, arms, or legs can also be a cause of brain injury.12 Preventive efforts are essential and should include educational programs for children, adolescents, and parents. The effectiveness of preventive activities regarding risky behavior and the use of protective equipment have been described. For example, awareness about head injury in children not wearing helmets during bicycle

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riding arose during the early 1980s, when it was noted that only approximately 15% of riders younger than 15 years of age wore helmets. Societal interest resulted in the implementation of helmet laws that reduced the incidence of pediatric TBI. The results of a case-control study in Seattle in 1989 indicated that the use of bicycle helmets reduced the risk of bicycle-related head injury by 74% to 85%.105

Pathology Brain damage due to TBI is typically divided into primary and secondary damage. Primary damage is related to the forces that occur at the time of initial impact; secondary damage occurs as the result of processes evoked in response to the initial trauma.

Primary Brain Damage Primary brain damage can be classified according to the mechanism of injury, including acceleration-deceleration injury, crush injury, and penetration injury. Acceleration-deceleration injuries occur when the force applied is translational (Fig. 22.1) or rotational (Fig. 22.2) and commonly results from motor vehicle accidents; the head hits an immobile object or a mobile object hits the immobile head. Such injuries can lead to lesions that might be microscopic or combined with a focal macroscopic lesion with a predilection for the midbrain, pons, corpus callosum, and white matter of the cerebral hemispheres.80 Acceleration-deceleration injuries, particularly the rotational component, produce differential displacement of adjacent brain tissue layers. This shearing force has its greatest effect in areas where the density differences of the tissues are greatest. Therefore approximately two thirds of lesions of this type—that is, diffuse axon injury (DAI)—occur at the gray-white matter interface.92 The child’s brain has a higher water content (88%) than the adult brain (77%), meaning that the brain is softer and more prone to acceleration-deceleration injury. Contusion or crush injuries are usually frontal or temporal. These injuries result from relatively low-velocity impact such as blows to the head or falls. Skull fractures may be associated, which is significant only when underlying compression of the brain or hemorrhage occurs. Or multiple small intracerebral hemorrhages and occasionally more

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extensive bleeding may be observed. Penetration injuries constitute a minority of pediatric TBI and are classified as nonmissile penetrating injuries and missile penetrating injuries. Children are prone to nonmissile penetrating injuries that result from a fall or from a home or playground accident. These injuries often involve nails, pencils, and sharp sticks, which, in most cases, cause focal damage. Missile injuries caused by gunshots or air pellet rifles lead to substantive intracranial damage.

Secondary Brain Damage Secondary brain damage usually results from hypoxia or ischemia, which can be caused by intracranial factors or extracranial factors such as hypoxemia or hypotension (systolic blood pressure 29) is associated with a 1.5to 3.5-fold increase in the occurrence of MM.132 More studies combining detailed family histories, pathologic anatomy, and detailed physical examinations must be conducted to determine the relative contribution of teratogens to MM formation.181

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FIG. 23.2 Illustrations of the neural plate and folding of it to form the neural tube. (A) Dorsal view of an embryo of approximately 17 days, exposed by removing the amnion. (B) Transverse section of the embryo showing the neural plate and early development of the neural groove and neural folds. (C) Dorsal view of an embryo of approximately 22 days. The neural folds have fused opposite the fourth to sixth somites but are open at

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both ends. (D–F) Transverse sections of this embryo at the levels shown in C illustrating formation of the neural tube and its detachment from the surface ectoderm. Note that some neuroectodermal cells are not included in the neural tube but remain between it and the surface ectoderm as the neural crest. (From Moore KL, Persaud TVN, Torchia MG: Before we are born: essentials of embryology and birth defects. 9th ed. Philadelphia: Elsevier, 2016.)

Nutritional Deficiencies A significant decrease in the incidence of MM births and abortions was observed for MM diagnosed prenatally in the United Kingdom during a placebo-controlled trial of prenatal folic acid administration for women who had given birth to a previous baby with a MM.134 Other reports suggested that European and United Kingdom studies regarding the benefit of supplementation of folic acid could be applied to other culturally and genetically diverse populations where there are different racial and regional differences in the birth incidence of MM.16,35,59,150 Early data from the United States did not include pregnancies terminated because of in utero diagnosis of MM and, therefore, led to controversy.17,128,130,165 MM stands out as one of the few birth defects for which a primary prevention strategy (folic acid [FA] fortification of food) is available. It has been a highly effective intervention compared with dietary improvement or supplementation because fortification made FA accessible to all women of childbearing age without requiring behavior change. In 1998, the United States was the first country to require mandatory FA fortification of standardized enriched cereal grain products, infant formulas, medical foods, and foods for special dietary use. MM prevalence decreased by 31% after fortification, from 5.04 per 10,000 during 1995 to 1996 to 3.49 at the end of 2006. Unfortunately, this decrease is not uniform across ethnic groups. The reasons for the disparity between declines in the prevalence of MM since FA fortification are unknown. However, no European countries, including the United Kingdom, had implemented mandatory food fortification as of June 2013.209 Current Centers for Disease Control recommendations advise

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women to take folic acid in an effort to reduce both the recurrence in families with134 and the occurrence in families without a member with MM.16,33 Women with a first-degree relative with MM or with history of having an open MM in a previous child or fetus should be advised to take 4 mg per day, and women without a positive history should be advised to take 0.4 mg per day. Both should begin the folic acid at least 3 months before conception. Folic acid is believed to be harmless in this age group because the only possible concern is the masking of pernicious anemia resulting from cobalamin deficiency. Both observational and intervention studies, including randomized, controlled trials, showed that adequate consumption of FA periconceptionally can prevent 50% to 70% of MM. Taking folic acid does not eliminate the occurrence of open neural tube defects and has no known effect on the occurrence of closed MM. How FA acts to prevent MM in some individuals and does not appear to have any prevention ability in others remains an important but unanswered question.

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Incidence and Prevalence Superimposed on a general worldwide decrease in the birth incidence of MM are a number of influences to cause both a reduction in birth incidence and increased prevalence resulting from improved survival. Better nutrition applies to many areas of the industrialized world. Wider availability of amniocentesis, maternal serum alpha-fetoprotein screening, and more refined resolution of diagnostic ultrasonography for fetal examination have given parents an option to terminate pregnancies because their fetus has MM.7,111 Measurement of maternal serum alphafetoprotein is now part of the triple test (alpha-fetoprotein, human chorionic gonadotropin, and estradiol) and the quad screen (alphafetoprotein, human chorionic gonadotropin, estradiol, inhibin A). Alpha-fetoprotein levels are reported as multiples of the median (MoM); concerning results for an open MM are levels greater than 2.5 MoM. Diagnosis now occurs frequently at 18 weeks’ gestation allowing time for parents to deliberate.192 It is estimated that internationally approximately 23% of pregnancies where a prenatal diagnosis of a MM is made are voluntarily terminated.139 TOP is the most common outcome of pregnancy after prenatal diagnosis of anencephaly and MM.84 One systematic review showed an overall frequency of TOP after prenatal diagnosis to be 83% for anencephaly (range, 59% to 100%) and 63% for MM (range, 31% to 97%). TOP for MM was more common when the prenatal diagnosis occurred at less than 24 weeks’ gestation (86 vs. 27%), with defects of greater severity, and in Europe versus North America (66 vs. 50%).84 Conversely, prenatal diagnosis has allowed other parents to select cesarean section prior to rupture of the amniotic membranes and onset of labor, avoiding trauma to the neural sac from vaginal delivery. The outcome of cesarean delivery compared to vaginal delivery has been children with less paralysis and with minimal risk for CNS infection, both of which were previously a cause for increased morbidity and early death.182 Improved medical care has resulted in increased survival and, secondarily, an increased prevalence of MM. Incidence at birth in the United States has been reported to

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range from 0.4 to 0.9 per 1000 births, depending on the reporting source.181 Prevalence per 1000 births in the United States is reported to be 4.17 for Hispanic, 3.22 for non-Hispanic white, and 2.64 for non-Hispanic black mothers.

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Perinatal Management Since the late 1980s, the intervention for MM has changed from a postnatal crisis of horrendous magnitude to a prenatal option of either pregnancy termination or improved pregnancy outcome by prelabor cesarean section birth. This advance has been made possible by widespread use of maternal serum alpha-fetoprotein screening as part of the triple screen or quad screen.111 Unfortunately, this type of screening will not detect skin-covered neural defects such as meningoceles, lipomyelomeningoceles, or other rare lesions covered by skin. Technical improvements in ultrasonography allow for the identification of anatomic variations/markers to diagnose MM. It is believed that ultrasonography is a reliable method to identify MM by the end of the first trimester of gestation. These markers are more specific for open spinal defects and represent the consequence of the associated Chiari II malformation. Common cranial ultrasonographic signs described in MM include34: 1. The lemon sign (scalloping/overlapping of the frontal bones): the cross-section view of the brain appears lemon shaped rather than oval and is predictive of MM. Seen in 80% of cases. 2. Small cerebellum (transcerebellar diameter < 10th percentile) 3. Effacement of the cisterna magna (width < 2 mm on axial scan of posterior fossa) 4. The banana sign (small cerebellum hemispheres curling anteriorly and obliteration of the cisterna magna as a result of downward displacement of the hindbrain structures). Seen in 93% of cases. 5. Ventriculomegaly (atrial width: severe: > 14 mm; borderline: > 10 mm) 6. Funneling of the posterior fossa (clivus-supraocciput angle < 72 degrees) Their sequence has not been established; investigators disagree whether cerebellar signs precede cerebral signs or vice versa. These ultrasonographic signs are more accurate in defining the cranial malformations associated with MM than in detecting abnormalities

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of the spine. As discussed in the section on pathoembryology, these ultrasonographic signs are pertinent to MM cephalad to the S2 vertebra (i.e., neurulation defects) but not to canalization defects, which are usually not associated with cranial malformations responsible for the Arnold-Chiari type II malformation,176 the cause of the “lemon” and “banana” signs. Some spinal dysraphic states and dorsal lumbosacral masses consistent with canalization defects such as myelocystocele or lipomyelomeningocele can be identified with ultrasonography. Other anomalies consistent with syndromes or organ malformations that are incompatible with survival beyond intrauterine life (e.g., anencephaly) can also be detected. A third modality for prenatal diagnosis, amniotic fluid analysis, is critical in the evaluation of a fetus with a MM. Up to 10% of fetuses with a MM detected in the first half of the second trimester or before have an associated chromosome error, usually trisomy 13 or 18.108 Chromosome analysis of amniotic cells is therefore essential to the parental decision-making process regarding abortion of the pregnancy. From the same amniotic fluid specimen obtained for chromosome analysis, the acetylcholinesterase level can be determined. This test is more accurate than determination of the amniotic fluid level of alpha-fetoprotein used previously because the former is positive only in a fetus with an open MM.111 The presence of a dorsal spine lesion and a negative result of an acetylcholinesterase test suggest a skin-covered meningocele or other skin-covered MM, which is an indication for normal vaginal delivery. A MM lesion containing nerves protruding dorsal to the plane of the back, in the presence of fetal knee or ankle function observed on ultrasonography, warrants prelabor cesarean section, sterile delivery, and closure of the open-back lesion to preserve nerve function.108 Prenatal diagnosis also allowed the introduction of repair of the MM sac in utero. While the goal of previous fetal interventions in other conditions was to prevent fetal/neonatal demise, the goal of fetal meningomyelocele (fMMC) repair was to improve long-term outcome in a condition that already had an effective postnatal treatment. Tulipan and associates197 reported a decreased need for a cerebrospinal fluid shunt and claimed improvement in the Chiari II malformation, as evidenced solely by improved appearance on

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magnetic resonance imaging (MRI) when intrauterine repairs were performed. Bannister9 cautioned that the MRI appearance was not as important as function. The claims of Tulipan and associates,197 however, were not substantiated by the results of cases treated at other centers. Differences in selection criteria and the lack of comparison populations undergoing postnatal repair led the National Institute of Child Health and Human Development to initiate the Management of Myelomeningocele Study (MoMS) (2003–2010) at three centers with prior intrauterine surgery experience. MoMS showed the efficacy of fMMC in a specific homogeneous population under ideal circumstances; these results may not be generalizable outside the eligibility criteria set forth in MoMS. As a result, it is not clear that fMMC is effective in real patients in typical settings. The initial MoMS results were published in 2011,1 when the majority of the participants were 12–30 months of age. They reported important benefits in children who underwent prenatal closure/repair compared with infants repaired postnatally: 1. Decreased need for postnatal ventriculoperitoneal shunt placement (40% vs. 82%, P < .001) 2. Significant reversal of severe hindbrain herniation (22% vs. 6%, P < .001) 3. Greater likelihood to walk without devices (42% vs. 21%, P < .01) 4. Motor function 2 or more levels better than expected by anatomic level (32% vs. 12%, P < .005). However, MoMS also showed that fMMC surgery increased several risks in children who underwent prenatal closure/repair compared with infants repaired postnatally: 1. Increased risk of spontaneous rupture of membranes (46% vs. 8%, P < .001) 2. Increased risk of oligohydramnios (21% vs. 4%, P < .001) 3. Increased risk of preterm delivery (79% vs. 15%, P < .001); 13% of the fetal surgery group were born before 30 weeks of gestation Urologic outcomes are a particular area in which the benefits of fMMC repair remain unclear. All of these questions will require further evaluation and extended follow-up. This is a primary goal of the MoMS II study that will evaluate participants between 5 and 8 years of age.

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Impairments The discussions of pathoembryology and diagnosis describe the potential involvement of the brain and brain stem in addition to the spinal cord in individuals with MM. The multifocal involvement of the CNS results in several possible complex problems, making the care of these individuals more challenging than and substantially different from that of children with traumatic spinal cord injuries. The broad spectrum of problems encountered with MM requires a multidisciplinary team approach in a comprehensive care outpatient clinic setting. This section describes the variety of impairments that can occur with MM. In addition, general examination and intervention issues related to each impairment are discussed. Impairment, for the purpose of this discussion, is defined as a change in body structure and function, whereas activity limitation is the inability to perform tasks as a consequence of impairments. Activity limitations and participation restrictions encountered at specific age levels, along with age-specific examination, evaluation, and intervention issues, are discussed in subsequent sections of this chapter.

Musculoskeletal Deformities Spinal and lower limb deformities and joint contractures occur frequently in children with MM. Orthopedic deformities and joint contractures negatively affect positioning, body image, weight bearing (both in sitting and standing), activities of daily living (ADLs), energy expenditure, and mobility from infancy through adulthood. Several factors contribute to abnormal posture, limb deformity, and joint contractures, including muscle imbalance secondary to neurologic dysfunction, progressive neurologic dysfunction, intrauterine positioning, coexisting congenital malformations, arthrogryposis, habitually assumed postures after birth, reduced or absent active joint motion, and deformities after fractures.115,175 The upper limbs can also be involved as a result of spasticity or poor postural habits. The upper limb region most likely to have restricted motion is the shoulder girdle due to

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overuse of the arms for weight bearing and poor postural habits. Postural stability is essential to effectively perform functional tasks. Symmetric alignment is important to minimize joint stress and deforming forces and to permit muscles to function at their optimal length. Uncorrected postural deficits can result in joint contractures and deformities, stretch weakness, and musculoskeletal pain. Deficits that may appear insignificant during childhood often become magnified once an individual has adult body proportions, resulting in activity limitations and discomfort (e.g., low back pain resulting from an increased lumbar lordosis and hip flexion contractures). Consequently, limb, neck, and trunk range of motion (ROM), muscle extensibility, and joint alignment should be monitored throughout the life span so that appropriate interventions can be implemented as indicated. Typical postural problems include forward head, rounded shoulders, kyphosis, scoliosis, excessive lordosis, anterior pelvic tilt, rotational deformities of the hip or tibia (in-toeing, out-toeing, or windswept positions), flexed hips and knees, and pronated feet. It is important to observe posture and postural control after a given position has been maintained for a period of time to determine the effects of fatigue. Static and dynamic balance should be observed in sitting, four-point positioning, kneeling, half-kneeling, and standing, as well as during transitions between these positions. Symmetry and weight distribution should also be noted. In addition, typical sleeping and sitting positions should be identified to determine if habitual positioning is contributing to postural or joint deformities (e.g., “frog-leg” position in prone or supine, Wsitting, ring sitting, heel sitting, cross-legged sitting, and crouch standing). These habitual positions should be avoided because they may produce deforming forces and altered musculotendon length that result in the development of secondary impairments such as the progression of orthopedic deformities, joint contractures, and strength deficits. Photographs or videos of sitting and standing postures are often useful to document current status and to provide a visual baseline for future reference. Postural deviations and contractures that are typical for individual lesion levels are summarized as follows. Individuals with high-level lesions (thoracic to L2) often have hip flexion,

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abduction, and external rotation contractures; knee flexion contractures; and ankle plantar flexion contractures. The lumbar spine is typically lordotic. Individuals with mid- to low-lumbar (L3–L5) lesion levels often have hip and knee flexion contractures, an increased lumbar lordosis, genu and calcaneal valgus malalignment, and a pronated position of the foot when bearing weight. They often walk with a pronounced crouched gait and bear weight primarily on their calcaneus. Individuals with sacral level lesions often have mild hip and knee flexion contractures and an increased lumbar lordosis, and the ankle and foot can either be in varus or valgus, combined with a pronated or supinated forefoot. They may walk with a mild crouch gait and may bear weight primarily on their calcaneus unless plantar flexor muscles are at least grade 3/5. Crouch standing is a typical postural deviation that is observed across lesion levels and is characterized by persistent hip and knee flexion and an increased lumbar lordosis. The crouch posture often occurs because of muscle weakness (e.g., insufficient soleus muscle strength to maintain the tibia vertical) and orthopedic deformities (e.g., calcaneal valgus, which results in obligatory tibial internal rotation and knee flexion). Hip and knee flexion contractures often occur secondarily, in response to adaptive shortening of muscles from prolonged positioning in the crouch-standing posture. Altered postures, such as crouch standing, negatively affect both the task requirements (by increasing the muscle torque required to maintain the position) and the torque-generating capacity of the musculoskeletal system.66 Such increased demands placed on the musculoskeletal system when standing and walking in a crouched posture may negatively impact function and result in secondary impairments.5,25,66,107,136,137,177,198,206 It is important that appropriate intervention be implemented to ameliorate crouch standing so that the excessive physical demands and stress placed on the musculoskeletal system are reduced and the development of secondary impairments is minimized. Scoliosis occurs in about 50% of children with MM and can be congenital or acquired; the congenital form is usually related to underlying vertebral anomalies and the curve is often inflexible, whereas the acquired type is usually caused by muscle imbalance

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and the curve is flexible until skeletal maturity is reached,115 at which point little further progression is usually observed.175 Scoliosis is more frequently observed in higher lesion level groups (thoracic 90%; midlumbar 40%; low lumbar 10%) and becomes more prevalent and increasingly severe with age in all groups.115 Other spinal deformities that can occur in conjunction with or separate from scoliosis are kyphosis and lordosis deformities (Fig. 23.3). Congenital kyphosis occurs in 10% to 15% of infants with MM.131,196 Paralytic kyphosis is acquired in approximately one third by early adolescence,25 progressing at a rate of 7% to 8% per year.11 Kyphosis can occur in the lumbar spine with reversal of the lumbar lordosis, or the kyphosis can be more diffusely distributed over the entire spine. Hyperlordosis of the lumbar spine is another commonly observed deformity. Like scoliosis, both kyphosis and lordosis are more commonly observed in children with higher spinal lesions and the curves tend to progress with age.115 Severe kyphosis and scoliosis can limit chest wall expansion with consequent restriction of lung ventilation and frequent respiratory infections. The resulting restrictive lung condition can limit exercise tolerance and can be life threatening in extreme cases.115 Poor sitting posture, muscle imbalance, and recurrent skin ulcerations are additional problems encountered.25 The goal of treatment of spinal deformities is to maintain a balanced trunk and pelvis.86 Orthotic intervention, usually with a bivalved Silastic thoracolumbosacral orthosis (TLSO), is helpful in maintaining improved trunk position for functional activities but does not prevent progression of acquired spinal deformity.115 For children with progressive spinal deformities, orthotic intervention is continued until the child reaches a sufficient age to allow surgical fusion of the spine to prevent further progression of these deformities. Long spinal fusions before the skeletal age of 10 result in greater loss of trunk height because of ablation of the growth plates of vertebral bodies included in the fusion mass.115 In addition, surgery at too young a skeletal age is associated with an increased frequency of instrumentation failure as a result of fragile bones and skin breakdown over the bulky spinal instrumentation.115 The ideal minimum age for spinal fusion is 10 to 11 years old in girls and 12 to 13 years old in boys.115 In general, children with MM

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reach puberty and their growth spurt earlier than their able-bodied peers, so only minimal truncal shortening occurs as a consequence of long spinal fusion when it is performed at the appropriate age. With the introduction of growing constructs such as the vertically expanding prosthetic titanium rib systems and growing rods, children with severe scoliosis at younger ages can undergo a spine stabilization procedure without sacrificing the final truncal height.

FIG. 23.3 Spinal deformities. (A) Collapsing type of

lordoscoliosis. (B) Kyphotic spinal deformity. ([A] From Zitelli BJ, McIntire SC, Nowalk AJ: Zitelli and Davis’ atlas of pediatric physical diagnosis. 6th ed. Philadelphia: Saunders, 2016. [B] From Hoyt CS, Taylor D: Pediatric ophthalmology and strabismus. 4th ed. Edinburgh: Saunders, 2013.)

It is important to note that a history of recurrent urinary tract infections or poor nutrition increases the risk of perioperative infections with spinal instrumentation procedures for children with MM.64 Hip joints also are prone to deformity in children with MM. Fixed flexion deformities often require surgical intervention because they

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interfere with ambulation and orthotic fit. Correction after surgery should be maintained by encouraging standing and walking.41,125 Children with high lumbar lesions (L1, L2) have unopposed flexion and adduction forces that gradually push the femoral head superiorly and posteriorly. The resulting contractures and secondary bony deformities of the proximal femur and acetabulum can lead to subluxation or dislocation (Fig. 23.4A and B) in nearly one third to one half of children with MM.41 In children with hip subluxation or dislocation, long-term followup studies have indicated that reduction of the hips is not a prerequisite for ambulation.168 Mayfield115 stated that a level pelvis and good ROM are more important for function than hip reduction. Furthermore, he stated that the presence of the femoral head in the acetabulum does not necessarily improve ROM at the hip or the ability to ambulate. In addition, unlike in children with cerebral palsy, it does not appear to affect the amount of orthotic support required, hip pain, or gait deviation.159 The indications for hip surgery in children with MM continue to be controversial; however, a basic principle practiced at many centers is to operate only on children with a lesion level at or below L3, when quadriceps muscle function is present, because these children are more likely to be functional ambulators into adulthood.115,175 Fixed pelvic obliquity caused by unilateral subluxation or dislocation interferes with sitting or standing posture, contributes to scoliosis, and makes skin care unmanageable. It is another indication for surgical relocation of the hip, regardless of lesion level or ambulatory potential, along with painful hip dysplasia in ambulators.189 Shurtleff175 evaluated the frequency of all types of hip contractures in large numbers of children with various spinal lesion levels. He noted that contractures measured in infancy tended to decrease in severity until approximately age 3 to 4 years, then increased to much higher values by adolescence. The initial decrease in severity of hip contractures can potentially be explained as a normal physiologic phenomenon resulting from intrauterine positioning. The increase in severity of contractures by adolescence, however, is of special concern to physical therapists. Mild contractures of minimal functional significance in young children can increase dramatically during later childhood and adolescence,

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necessitating persistent intervention and follow-up by the therapist to prevent significant functional loss. Consequently, physical therapists should be proactive in preventing the progression of contractures. Thoracic and high lumbar (L1, L2) groups of children have a higher incidence and greater severity of contractures owing to unopposed iliopsoas muscle function, regardless of whether or not they were participating in a standing program.103 Shurtleff175 reported progressively declining frequency and severity of contractures in groups of children with lesions at L3, L4 to L5, and sacral levels, respectively. An unexpected finding from Shurtleff’s study was that only a certain percentage of children in each lesion level group had hip contractures, subluxation, or both. These relative percentages were not altered by surgical procedures on the hip and stayed constant across age groups. No clear reasons were discerned why certain individuals were susceptible to contractures, whereas others with similar neurologic function were not.

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FIG. 23.4 Lower limb deformities. (A) Hip dislocation.

(B) Hip dysplasia and subluxation. (C) Genu varus. (D) Genu valgus. (E) Equinovarus. (F) Calcaneal valgus. ([C–D] From Macnicol MF: Paediatric knee problems. Orthop Trauma 4[5]:369-380, 2010. [E] From Herring JA: Tachdjian’s pediatric orthopaedics: from the Texas Scottish Rite Hospital for Children. 5th ed. Philadelphia: Saunders, 2014. [F] From Sahrmann S: Movement system impairment syndromes of the

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extremities, cervical and thoracic spines. St. Louis: Mosby, 2011.)

The knee joints of children with MM frequently have contractures or deformities. These include both flexion and extension contractures; the former more commonly occur in children who primarily use a wheelchair for mobility,103 and the latter often occur after periods of immobility from fractures, decubitus ulcers, or surgical procedures. Varus and valgus deformities (see Fig. 23.4C– D) are also observed. Flexion deformities may make walking difficult or impossible, and extension deformities may complicate sitting. If either flexion or extension deformities are significant, they may need to be ameliorated via surgical release.189 Wright and associates208 reported that 60% of individuals with fixed flexion contractures less than 20° and a lesion level higher than L3 were still biped ambulators in late adolescence, as compared to fewer than 5% of individuals with fixed flexion contractures greater than 20°. They also concluded that muscle imbalance and spasticity do not appear to be major causative factors; rather, the lack of normal joint movement may lead to joint stiffness. As described earlier for the hip joints, Shurtleff175 studied the frequency of knee contractures and deformities in children with different lesion levels. An initial decrease from the contractures measured in infants was also noted at the knees, with the lowest prevalence occurring at age 4 to 5 years for patients with L3 or higher lesions and at age 2 to 3 years for children with lesions below L3. The frequency and severity of contractures increased in all groups from early childhood into adolescence. Knee joint contractures occurred in 65% to 70% of the thoracic and high lumbar groups by age 6 to 8, 20% to 25% of the L4 to L5 group by age 9 to 12, and sporadically among the children with sacral level lesions. Valgus and varus deformities were most frequently observed in the L3 and above groups, with a slight increase during adolescence. Deformities of the ankles and feet can occur in both ambulatory and nonambulatory children and are most common in children with lesion levels at L5 and above.175 Partial innervation and consequent muscle imbalance determine the type of deformity that occurs. Even with surgical correction, these deformities will recur unless the deforming forces are removed. Progressive ankle and

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foot deformities can also be observed in conjunction with the development of spasticity and motor strength loss associated with tethering of the spinal cord. Children with “skip” lesions (see the section on motor paralysis) are particularly prone to progressive foot deformities.175 A variety of foot and ankle deformities can occur (see Fig. 23.4E– F), including ankle equinovarus (clubfeet), forefoot varus or valgus, forefoot supination or pronation, calcaneal varus or valgus, pes cavus and planus, and claw-toe deformities. The most frequent contracture observed is of the ankle plantar flexor muscles. The frequency of foot deformities has been reported to vary from 20% to 50% between lesion level groups175 and has been reported to be as high as 90% for high-level paralysis and 60% to 70% for lower-level paralysis.24,52,189 Although some deformities are more frequently associated with certain neurosegmental levels (e.g., clubfeet in thoracic and high lumbar lesions, claw-toes in sacral lesions), all types of ankle and foot deformities are observed in children at every lesion level. Congenital clubfeet are common, and surgery is indicated once the child is developmentally ready to stand.25 Other foot deformities may develop over time as a result of muscle imbalance. Dias40 noted that ankle valgus occurs in the presence of fibular shortening, the latter being highly correlated with paralysis of the soleus muscle. Surgical treatment of a valgus ankle is indicated when the deformity cannot be functionally alleviated with orthotics. The presence of ankle and foot deformities can greatly affect sitting and standing posture, balance, mobility, foot ulcerations, and shoe fit, regardless of lesion level. Weight-bearing forces often result in ankle and foot deformities. Even partial weight bearing on wheelchair footrests in poor alignment over time can result in deformities and foot ulcerations. Consequently, achieving a plantigrade position of the feet is a priority, regardless of ambulatory status. Surgical procedures are often necessary and are effective.189 Orthoses and assistive devices should be adjusted properly to maintain neutral subtalar alignment and a plantigrade foot position. Torsional deformities are common. Excessive foot progression angles and windswept positions of the lower limbs are often present (Fig. 23.5) as a result of hip anteversion, hip retroversion, or

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tibial torsion. These torsional deformities negatively affect sitting and standing balance, weight distribution, and walking. See Cusick and Stuberg32 for factors that contribute to torsional deformities in individuals with developmental disabilities, examination procedures, normative values, and intervention suggestions. Joint alignment and evidence of abnormal joint stress are often most apparent during dynamic activities such as walking or wheelchair propulsion. Joint stresses are often magnified when walking on uneven surfaces, stairs, or curbs. Observing wear patterns on shoes and orthoses can provide additional clues to abnormal stress and malalignment. If joint deformities are supple, they may respond to stretching, combined with orthoses or positioning splints to maintain alignment. Fixed deformities may respond to serial casting (e.g., foot deformities) but will often require surgical intervention (e.g., scoliosis, unilateral hip dislocation, or tibial torsion). If muscle imbalance is severe and the deforming forces are not effectively counteracted by stretching, strengthening, or positioning, muscle transfers may be indicated (e.g., partial transfer of the anterior tibialis muscle to the calcaneus to achieve a plantigrade foot position by balancing the unopposed dorsiflexion force in a child with L5 motor function). There are several reasons for maintaining joint ROM. Limited ROM can interfere with ADLs, bed mobility, and transfers. Bed mobility is more efficient and self-care is easier for individuals who have maintained their flexibility.68 Restricted ROM, combined with muscle weakness, can result in poor postural habits and gait deviations. Adequate ROM must be maintained to perform ADLs such as bathing and toileting. Restricted joint motion can result in overlengthening of weak muscles, not permitting them to function in the optimal range of the length-tension curve. Limited ROM may result in discomfort, especially when lying down (e.g., tight hip flexors pulling on the lumbar spine). Severe contractures also can negatively affect body image. Contractures that may seem insignificant during childhood may become functionally limiting once the individual has adult-sized body proportions (e.g., knee extension contractures can interfere with the ability to maneuver in a wheelchair). In extreme cases, difficulty in managing paralyzed limbs because of joint contractures can put individuals at risk for

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skin breakdown and possibly amputations because of the increased incidence of injury.68 The impact of limited ROM on functional performance should be considered before deciding whether intervention is indicated.

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FIG. 23.5 Torsional deformities. (A) Femoral neck

anteversion. (B) External tibial torsion. (C–D) Internal tibial torsion. ([A–B] From Zitelli BJ, McIntire SC, Nowalk AJ: Zitelli and Davis’ atlas of pediatric physical diagnosis. 6th ed. Philadelphia: Saunders, 2016. [C– D] From Coughlin MJ, Saltzman CL, Anderson RB: Mann’s surgery of the foot and ankle. 9th ed, Philadelphia: Saunders, 2014.)

ROM and positioning of paralytic limbs should be done carefully, without excessive force, to avoid fractures.163 Caution should also be exercised when adducting the hips to avoid hip dislocation. The prone hip extension test188 for measuring hip extension is the method of choice in this population because of interference of spinal and pelvic deformities and lower limb spasticity with the

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traditional Thomas test method.13 Ankle ROM should always be measured with the ankle joint in subtalar neutral so that measurements are comparable across time and therapists. The long-term effects of surgical interventions and weight bearing on insensate joints are becoming evident as individuals with MM reach adulthood.25 Secondary impairments of knee joint deterioration and arthritis occur with increased frequency in older individuals.107 Nagankatti and associates137 reported a prevalence of 1 per 100 cases of Charcot arthroplasty in the MM population. There are several ways to minimize musculoskeletal stress and reduce the incidence of acquired orthopedic deformities. Improving traction of the hands by providing biking gloves for community wheelchair mobility reduces the grip forces required for wheelchair propulsion. Wheelchair seat positions influence propulsion effectiveness and the amount of stress on upper limb joints and muscles.114 For ambulators, shoes with nonskid soles improve foot traction. Symmetric neutral joint alignment should be maintained in both sitting and standing via appropriate orthotics or seating devices. It is important to avoid shifting weight to one leg when standing and to avoid crossing the legs when sitting. Extreme ROM should be avoided, especially when bearing weight. Crutch and walker handgrips should be angled to avoid hyperextension of the wrists, and weight should be distributed across a broad, cushioned area. Orthoses should provide total contact to minimize the risk of development of pressure areas. Excessive pressure on tendons and the palms of the hand should be avoided to reduce the risk of developing carpal tunnel syndrome. Overhead reaching and work activities should be minimized by adapting the home, school, and work environments. In addition, long-distance mobility options should be provided to reduce joint stresses. When sitting, weight bearing should be symmetric, pelvic tilt should be neutral with a slight lumbar lordosis, the hips and knees should be at 90°, and the feet should be flat on the floor. Good lumbar support should be provided. Inclining the seat backward 15° minimizes stress on the lumbar spine and helps keep the pelvis seated back in the chair.28 Tilting the desk or tabletop upward improves the position of the upper trunk, head, and shoulders.

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Osteoporosis The incidence of fractures is reported to be 11% to 30% in children with MM.44,113,193 This high rate of fractures is believed to be secondary to reduced bone mineral density from limited ambulation and muscle weakness caused by the MM.112 Decreased bone mineral density, thought to be secondary to hypotonic or flaccid musculature combined with decreased loading of long bones from altered mobility, is frequently observed in children with MM and often results in osteoporotic fractures. In a comprehensive review of studies evaluating pediatric supported standing programs, Paleg148 concluded: “Standing programs 5 days per week positively affect bone mineral density (60 to 90 min/d); hip stability (60 min/d in 30° to 60° of total bilateral hip abduction); range of motion of hip, knee, and ankle (45 to 60 min/d); and spasticity (30 to 45 min/d).” These issues must be studied further in the MM population, however. Bone responses in children with flaccid paralysis may be quite different. Rosenstein and associates157 examined this issue in the MM population and reported that bone mineral density was 38% to 44% higher in household or community ambulators compared with nonfunctional ambulators (exerciseonly ambulators or nonambulators). Salvaggio and associates160 reported that walking ability was a highly significant determinant of bone density in prepubertal children with MM. Because the effects of lesion level were not controlled in either of these studies, however, the potential contribution of muscle activity versus weight-bearing status to the differences in bone mineral density cannot be determined. In addition, neither study addressed the issue of reduction of the incidence of osteoporotic fractures. Studying the frequency of fractures is a more direct and clinically significant method of examining the benefits of standing programs. Shurtleff175 asked the question, “Are fractures less common among those patients in standing or ambulatory programs than among similarly paralyzed sedentary peers?” Asher and Olson6 showed no correlation between fractures and the use of wheelchairs. DeSouza and Carroll39 reported no fractures in 7 nonambulators and 38 fractures in 16 ambulators. Their data implied that exposure to forces that can produce fractures (i.e., upright mobility) is the important risk factor for fractures, rather than the level of flaccid

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paralysis, as would be expected. Liptak and associates103 found no difference in the frequency of fractures between a group of children who were wheelchair users and a comparable group of children who ambulated with orthoses. Clinically, the use of standing frames, parapodiums, or hip-knee-ankle-foot orthoses (HKAFOs) in children with high lumbar and thoracic lesions does not appear warranted for the purpose of fracture prevention. For children with lower lumbar and sacral lesion levels, for whom upright positioning and mobility are important functional skills, undue restriction of physical activity for fear of a fracture is not indicated. The fact that passive weight bearing does not decrease the risk of fractures in these children makes sense if one considers that bone density is more likely maintained by torque generated from volitional muscle activity. Active muscle contraction generates forces through the long bones that are several times greater than the forces from passive weight bearing. Fractures often present subacutely because of lack of sensation, with swelling and warmth at the fracture site and a low-grade fever often being the only symptoms. Fractures frequently occur after surgery, immobilization in a cast, or as a sequela to foot arthrodesis. Because of the correlation between the duration of casting and the incidence of fracturing, immobilization in a cast is kept to a minimum and fractures are contained in soft immobilization for alignment.25 Weight bearing is resumed as soon as possible to avoid the risk of additional fractures.86

Motor Paralysis The inherently obvious manifestation of MM is the paraplegia resulting from the spinal cord malformation. Upper limb weakness can also occur in this population, regardless of lesion level, and is often a sign of progressive neurologic dysfunction. Knowledge of the motor lesion level is useful for predicting associated abnormalities and for prognostication of functional outcome. A detailed discussion regarding developmental and functional expectations for each motor lesion level is provided later in the section on outcomes and their determinants. Strategies for assessing strength and planning intervention programs to enhance motor

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function are provided in the section on age-specific examination and physical therapy intervention strategies. The motor level is defined as the lowest intact, functional neuromuscular segment. For example, an L4 level indicates that the fourth lumbar nerve and the myotome it innervates are functioning, whereas segments below L4 are not intact. Table 23.1 provides the International Myelodysplasia Study Group (IMSG) criteria for assigning motor levels from manual muscle strength test results.80 The IMSG criteria have been shown to best reflect the innervation patterns of individuals with MM as opposed to other spinal segment classification systems. MM spinal lesions can be asymmetric when motor or sensory functions of the right and left sides of the body are compared. Consequently, motor function should be classified individually for the right and left sides. Neuromuscular involvement of individuals with MM may manifest in one of three ways: (1) lesions resembling complete cord transection, (2) incomplete lesions, and (3) skip lesions.175 Lesions resembling complete cord transection manifest as normal function down to a particular level, below which there is flaccid paralysis, loss of sensation, and absent reflexes. Incomplete lesions have a mixed manifestation of spasticity and volitional control. Skip lesions are also observed, where more caudal segments are functioning despite the presence of one or more nonfunctional segments interposed between the intact more cephalad spinal segments. Individual skip motor lesions manifest either with isolated function of muscles noted below the last functional level of the lesion or with inadequate strength of muscle groups that have innervation higher than the lowest functioning group.149 Consequently, it is important to evaluate muscles with lower innervation than the last functional level to determine whether a skip lesion exists. The presence of spasticity and reflexes should also be carefully documented. McDonald and associates119 demonstrated that muscle strength grades for the gluteus medius and medial hamstring muscles correlate more highly with strength grades of the hip adductors, hip flexors, and knee extensors than lower limb anterior compartment muscles that have been previously described as being innervated by the L4, L5, and sacral nerve roots. These data potentially explain the

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clinical observation that individuals with MM often have functional strength in the gluteus medius and medial hamstrings despite having weak or nonactive lower limb anterior compartment muscles. It was concluded from this study that it is more useful clinically to group individuals with MM by the strength of specific muscle groups, as outlined in Table 23.1, rather than by traditional neurosegmental levels.

Sensory Deficits Sensory deficits are not clear-cut in this population because sensory levels often do not correlate with motor levels and there may be skip areas that lack sensation. Because skip areas can occur within a given dermatome, it is important to test all dermatomes and multiple sites within a given dermatome to have an accurate baseline examination. Deficits should be recorded on a dermatome chart with areas of absent and decreased sensation color-coded for the various sensory modalities (e.g., light touch, pinprick, vibration, and thermal). Proprioception and kinesthetic sense should also be evaluated in both the upper and lower extremities. Based on the results of a study conducted on 30 adults with MM, testing with both light touch and pinprick stimuli is not necessary in this population because there is little discriminating value for detecting insensate areas.70 In contrast, vibratory stimuli could be felt one dermatome below light touch and pinprick sensation. Based on these results, vibration sensation should be evaluated in addition to either light touch or pinprick sensation. It is important for individuals with MM to be aware of their sensory deficits and to be taught techniques to compensate by substituting other sensory modalities (e.g., vision). The impact of decreased sensation on safety should be emphasized, especially when checking temperature (e.g., bath water or when sitting near a fireplace) and when barefoot. Skin inspection and pressure relief techniques should be taught early so that they are incorporated into the daily routine. The importance of pressure relief cushions and sitting push-ups for pressure relief should be emphasized. Proper intervention of lower limbs and joint protection techniques should be taught when learning how to perform ADLs such as transfers.

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The impact of sensory deficits on functional performance should be kept in mind when teaching functional tasks. Individuals with MM may rely heavily on vision to compensate for sensory deficits.166 They may lack the kinesthetic acuity that permits subconscious completion of many repetitive motor tasks. Consequently, visual attention may not be available to be directed at other factors in the environment.4 Adding small amounts of weight to the ankles or a walker may enhance proprioceptive awareness and facilitate gait training. Use of patellar tendonbearing orthoses (Fig. 23.6) instead of traditional ankle-foot orthoses (AFOs) may also facilitate foot placement for individuals with innervation through L3 because the orthosis contacts the skin in an area of intact sensation. TABLE 23.1 International Myelodysplasia Study Group Criteria for Assigning Motor Levels Motor Criteria for Assigning Motor Levels Level T10 Determined by sensory level or palpation of abdominal muscles. or above T11 T12 Some pelvic control is present in sitting or supine (this may come from the abdominals or paraspinal muscles). Hip hiking from the quadratus lumborum may also be present. L1 Weak iliopsoas muscle function is present (grade 2). L1-L2 Exceeds criteria for L1 but does not meet L2 criteria.a L2 Iliopsoas, sartorius, and the hip adductors all must be grade 3 or better. L3 Meets or exceeds the criteria for L2 plus the quadriceps are grade 3 or better. L3-L4 Exceeds criteria for L3 but does not meet L4 criteria. L4 Meets or exceeds the criteria for L3 and the medial hamstrings or the tibialis anterior is grade 3 or better. A weak peroneus tertius may also be seen. Exceeds criteria for L4 but does not meet L5 criteria. L5 Meets or exceeds the criteria for L4 and has lateral hamstring strength of grade 3 or better plus one of the following: gluteus medius grade 2 or better, peroneus tertius grade 4 or better, or tibialis posterior grade 3 or better. L5-S1 Exceeds criteria for L5 but does not meet S1 criteria. S1 Meets or exceeds the criteria for L5 plus at least two of the following: gastrocnemius/soleus grade 2 or better, gluteus medius grade 3 or better, or gluteus maximus grade 2 or better (can pucker the buttocks). S1-S2 Exceeds criteria for S1 but does not meet S2 criteria. S2 Meets or exceeds the criteria for S1, the gastrocnemius/soleus must be grade 3 or better, and gluteus medius and maximus are grade 4 or better. S2-S3 All of the lower limb muscle groups are of normal strength (may be grade 4 in one or two groups). Also includes normal-appearing infants who are too young to be bowel

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“No loss”

and bladder trained (see “no loss”). Meets all of the criteria for S2-S3 and has no bowel or bladder dysfunction.

When description states “meets criteria …,” strength of muscles listed for preceding levels should be increasing respectively. Adapted with permission from Patient Data Management System. Myelodysplasia Study Data Collection Criteria and Instructions, 1994. (Available from D. B. Shurtleff, MD, Professor, Department of Pediatrics, University of Washington, Seattle, WA 98195.)

Hydrocephalus Hydrocephalus is excessive accumulation of cerebrospinal fluid (CSF) in the ventricles of the brain. Approximately 25% or more of children with MM are born with hydrocephalus. An additional 60% develop it after surgical closure of their back lesion.153 If left untreated, the continued expansion of the ventricles can cause loss of cerebral cortex with additional cognitive and functional impairment. Cerebellar hypoplasia with caudal displacement of the hindbrain through the foramen magnum, known as the ArnoldChiari type II malformation, is usually associated with hydrocephalus.

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FIG. 23.6 Ground-reaction ankle-foot orthosis.

Polypropylene patellar tendon-bearing ground-reaction ankle-foot orthoses molded with the foot in a subtalar neutral position. Note the zero heel posts and posts under the first metatarsal heads.

The hydrocephalus will occasionally arrest spontaneously; however, 80% to 90% of children with hydrocephalus will require a

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CSF shunt.181 A ventriculoperitoneal catheter shunts excess CSF from the lateral ventricles of the brain to the peritoneal space, where the CSF is resorbed. Because a shunt is a foreign body, it can be a nidus for infection or can become obstructed, requiring neurosurgical intervention. Repeated or prolonged shunt dysfunction and infections often lead to additional functional and cognitive decline of the child. Shunt dysfunction is often gradual, with subtle symptoms. Therapists should be familiar with these symptoms to facilitate early detection and appropriate referral to a physician for further evaluation. Box 23.1 provides a list of early symptoms and signs of shunt obstruction. Of particular interest are the findings of Kilburn and associates,90 which suggest that static or declining grip strength measurements are potentially an early indicator of neurologic dysfunction such as shunt malfunction or symptomatic Arnold-Chiari malformation. Hydrocephalus persists throughout life with consequent need of ongoing follow-up by a physician who is familiar with the medical complications associated with MM.

Cognitive Dysfunction Early closure of spinal lesions with antibiotic intervention to prevent meningitis and improved CSF shunt intervention have increased the expected cognitive function of children born with MM. However, an increasing body of work supports the concept that specific intellectual deficiencies in individuals with MM can be attributed to structural brain defects. A higher level of spinal lesion has been used as a marker for more severe anomalous brain development. Intelligence scores have traditionally been reported as higher in lumbar and sacral lesion level groups than in thoracic lesion level groups.166 However, recent studies comparing lesion level and measures of intelligence, academic skills, and adaptive behavior are not consistent in their findings.

B O X 2 3 . 1 Early

Warning Signs and Symptoms

of Shunt Dysfunction Changes in speech

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Fever and malaise Recurring headache Decreased activity level Decreased school performance Onset of or increased strabismus Changes in appetite and weight Incontinence begins or worsens Onset or worsening of scoliosis Onset of or increased spasticity Personality change (irritability) Decreased or static grip strength Difficult to arouse in the morning Decreased visuomotor coordination Decreased visual acuity or diplopia Decreased visuoperceptual coordination Onset or increased frequency of seizures Adapted with permission from Shurtleff DB, Stuntz JT, Hayden P: Hydrocephalus. In Shurtleff DB, editor: Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune & Stratton, 1986.

Dise and Lohr43 demonstrated the need for individual analysis of “higher-order” cognitive functions, including conceptual reasoning, problem solving, mental flexibility, and efficiency of thinking for individuals with MM, regardless of lesion level or general intelligence level. They argued that such neuropsychological deficits likely underlie the “motivational” and academic difficulties observed in this population, especially for those with an average IQ. The impairments in areas such as language, mathematics, and executive functioning persist throughout life. The current neuropsychological focus is on a MM phenotype that is the product of multiple complex processes rather than a dichotomous (visual vs. auditory perception; verbal vs. nonverbal learning disability) approach. The result of these multiple complex processes is the recognition of a more variable cognitive phenotype. Particularly important are deficits in assembled processing (the ability to assemble, construct, and integrate information across various content domains) and relatively intact associative processing (the ability to activate or categorize information; data driven).38 About 25% of school-aged children with spina bifida have

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a mathematical learning disability; children with spina bifida have difficulties with specific aspects of executive functioning: problem solving, planning and goal-directed behavior, focused attention, ability to shift attention, response inhibition, and working memory.87 Structural brain abnormalities in MM are important determinants of the neuropsychological profile. Three core deficits have been described in the neuropsychological assessment of individuals with MM and have been associated with specific brain structural anomalies: deficits in timing related to the volume of the cerebellum; deficits in attention related to the status of the midbrain, posterior cortex, and corpus callosum; deficits in movement related to spinal cord dysfunction and cerebellar dysmorphologies that affect sensory motor timing and motor regulation. The majority of children without hydrocephalus or with uncomplicated hydrocephalus (no infections or cerebral hemorrhage) will have intellect falling within the broad range of normal scores on intelligence testing. The distribution of scores tends to be skewed toward the upper and lower ends of normal, however, with fewer children scoring in the middle of the curve and a greater proportion scoring at the lower end of the range.166 The intellectual performance of children who have had significant CNS infections is lower than those who have not had infection.173 Verbal subtest scores usually exceed performance subtest scores.166 The poorer scores on performance subtests, however, may not represent true differences in verbal versus nonverbal reasoning skills. Instead, these differences can potentially be explained by upper limb dyscoordination (discussed later) and by memory deficits.166 Dyscoordination and memory deficits are manifested as distractibility on subtests assessing acquired knowledge (e.g., arithmetic), integrated right-left hemisphere function (e.g., picture arrangement, block design, and coding), speed of motor response (e.g., coding), and memory (e.g., digit span, coding, and arithmetic). Further controlled studies must be conducted to determine the source or sources of discrepant verbal versus performance intelligence scores observed in individuals with MM.

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The “cocktail party personality” is a cognitively associated behavioral disorder that occurs in some individuals with hydrocephalus, regardless of age or intelligence level.78 These individuals are articulate and verbose, superficially appearing to have high verbal skills. Close examination of the content of their speech, however, shows frequent and inappropriate use of clichés and jargon. Individual words are often misused. Despite the initial appearance of being capable, these individuals are often impaired, their performance in daily life is below what they superficially appear capable of,78 and they lack social skills.183 They often have difficulties with behavioral regulation. Difficulties include identifying the rules, maintaining goal-directed activities during play, performance in unstructured social situations, and a failure to benefit from feedback or instruction about their behavior. Children with spina bifida have a higher incidence of attention deficit/hyperactivity disorder (ADHD) than the general population and typically show problems with inattention rather than with impulsivity and hyperactivity on objective and subjective measures of attention, even when controlling for differences in intellectual functioning. It is important for the physical therapist to directly observe skills that these children report that they can perform and to confirm regular performance of the task at home with parents and care providers to determine if information provided by the patient is accurate.

Language Dysfunction Although language was once viewed as an asset, children with MM and hydrocephalus demonstrate a profile of both intact and impaired language skills. Their strengths are in the formal, fixed structures of grammar and single words or phrases (vocabulary) and “stored” meanings. Their weaknesses include deficits in discourse, characterized by a high frequency of irrelevant utterances and poorer performance with abstract rather than concrete language. Their communication can be difficult to process and is uneconomic and unclear. These language weaknesses adversely affect their success in social discourse settings. Culatta and Young31 administered the Preschool Language Assessment

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Instrument (PLAI) at four levels of abstraction to children with MM and comparable language-age control children. Children with MM performed comparably to control subjects on concrete tasks of the PLAI, but they produced more “no response” and irrelevant responses than control participants on abstract tasks.

Latex Allergy A range of up to 73% of children with MM have been reported to have latex allergies167,210 compared to 1% to 5% of control groups. Unfortunately, 2% of latex consists of major IgE-sensitizing proteins that are ubiquitous in our culture, and some children with MM have life-threatening anaphylaxis when exposed to them. Latexcontaining materials are almost never present in operating rooms or in products used elsewhere in the hospital; however, latex is still present throughout the general community. The IgE proteins in latex may be present in wheelchair seats and tires, foam rubber lining on splints and braces, elastic on diapers and clothes, pacifiers, balls, examination gloves used for bladder and bowel programs, and many other everyday objects. While almost all children’s hospitals have latex precaution policies, it is important for therapists in schools and clinics in the community to be aware of the need for children with MM to avoid exposure to latex products.

Upper Limb Dyscoordination Children with MM frequently display upper limb dyscoordination, especially those with hydrocephalus.166 The dyscoordination can potentially be explained by three possible causes: (1) cerebellar ataxia most likely related to the Arnold-Chiari type II malformation; (2) motor cortex or pyramidal tract damage secondary to hydrocephalus; or (3) motor learning deficits resulting from the use of upper limbs for balance and support rather than manipulation and exploration. These children perform poorly on timed fine motor skill tasks.166 Their movements can be described as halting and deliberate, rather than the expected smooth, continuous motion of able-bodied children. It often appears that there is a heavy reliance on visual feedback instead of kinesthetic sense. Consequently, even with extensive training, these children often

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have difficulty integrating frequently used fine motor movements at a subconscious level.166 Practicing fine motor tasks has been found to be beneficial, however, and often carries over into functional tasks.49 These coordination deficits have been described by some authors as apparent motor apraxias or motor learning deficits.26,97 Given the frequent occurrence of upper limb dyscoordination in these children, true apraxias are probably less common than these studies indicate. An additional factor that may contribute to upper limb dyscoordination is delayed development of hand dominance.166 A large number of children with MM have mixed hand dominance or are left-handed, suggestive of possible left hemisphere damage.166 Brunt26 indicated that delayed hand dominance may contribute to deficits in bilateral upper limb function integration, resulting in further difficulty with fine motor tasks.

Visuoperceptual Deficits Studies assessing visual perception have not clearly determined whether deficits in children with MM are common, as has been described in the literature.126,161,195 Tests that require good hand-eye coordination, such as the Frostig Developmental Test of Visual Perception, may artificially lower scores of children with MM as a result of the upper limb dyscoordination described earlier. When upper limb motor function has been removed as a factor in testing by using the Motor Free Visual Perception Test, children with MM have performed at age-appropriate levels.166 Consequently, results of visuoperceptual tests must be interpreted carefully, in conjunction with other examinations, before a diagnosis of a visuoperception deficit is made.

Cranial Nerve Palsies The Arnold-Chiari malformation, along with hydrocephalus or dysplasia of the brain stem, may result in cranial nerve deficits. Ocular muscle palsies can occur,176 such as involvement of cranial nerve VI (abducens) with consequent lateral rectus eye muscle weakness and esotropia on the involved side. Correction with patching of the eye, prescription lenses, or minor outpatient surgery

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is necessary to prevent amblyopia and for cosmesis.153 Gaston55 studied 322 children with MM for 6 years to monitor them for ophthalmic complications. Forty-two percent of these children had a manifest squint, 29% had an oculomotor nerve palsy or musculoparetic nystagmus, 14% had papilledema, and 17% had optic nerve atrophy. Only 27% of those surveyed had definite normal vision. Seventy percent of proven episodes of raised intracranial pressure (ICP) from CSF shunt malfunction had positive ophthalmologic evidence of the ICP. Shunt surgery is the first priority but may not restore normal ocular motility and visual function, requiring further compensatory interventions. Cranial nerves IX (glossopharyngeal) and X (vagus) can also be affected with pharyngeal and laryngeal dysfunction (croupy, hoarse cry) and swallowing difficulties.176 Apneic episodes and bradycardia may occur with a severely symptomatic Arnold-Chiari type II malformation and can potentially be life threatening. These severe symptoms usually appear within the first few weeks of life but can occur at any time.153 The survival rate is only about 40% in these severe cases.174 Those infants who do survive, however, have been noted to have gradual improvement in cranial nerve function. Neurosurgical posterior fossa decompression and high cervical laminectomies do not seem to substantially improve the outcome.57,174 In contrast, surgical decompression of the ArnoldChiari malformation has been shown to be beneficial for the intervention of progressive upper and lower limb spasticity.57

Spasticity The muscle tone of infants and children with MM can range from flaccid to normal to spastic. Stack and Baber187 found that some upper motoneuron signs were present in approximately two thirds of children with MM whom they examined; however, only about 9% had true spastic paraparesis. The remainder of this group had predominantly a lower motor neuron presentation with scattered upper motor neuron signs (e.g., flexor withdrawal reflex). In the group of children without upper motor neuron signs, most had totally flaccid paralysis below the segmental level of their spinal lesion, but a small percentage had normal tone. In contrast, Mazur

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and Menelaus117 stated that approximately 25% of individuals with MM exhibit lower extremity spasticity because of associated CNS abnormalities. As with other CNS conditions, spasticity and abnormal reflexes can affect function, positioning, or comfort in individuals with MM.

Progressive Neurologic Dysfunction Minor improvements in strength or development of sensation, although rare, can occur even as late as the fourth decade of life. More important, however, is the deterioration from neurologic changes that are due to treatable complications. These changes that can occur in the upper or lower extremities or trunk include loss of sensation, loss of strength, pain at the site of the sac repair, pain radiating along a dermatome, initial onset or worsening of spasticity, development or rapid progression of scoliosis, development of a lower limb deformity not explained by previously documented muscle imbalance, or change in bowel or bladder sphincter control. Such changes can be due to CSF shunt obstruction, hydromyelia (syringohydromyelia, syrinx), growth of a dermoid or lipoma at the site of repair, subarachnoid cysts of the cord, or spinal cord tethering and can be detected via MRI. Cord tethering occurs from scarring of the neural placode or spinal cord to the overlying dura or skin with resultant traction on neural structures.180 One third of children with MM will require surgery for a tethered spinal cord. The tethered cord syndrome may also result from other congenital anomalies, including thickening of the filum terminale and diastematomyelia.154 An acquired cause of progressive spinal cord dysfunction that has been reported is severe herniation of intervertebral disks into the spinal canal, causing compression of the cord.177 Lais and associates96 stated that slow deterioration of neurologic function is not uncommon. Progressive deterioration of spinal cord function resulting from any of these causes can be arrested by neurosurgical interventions. Deterioration of the gait pattern is frequently the first complaint by patients or their parents. Because physical therapists see these patients more frequently than physicians or surgeons, the therapist is often the first to observe these changes and should be alert to the

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need for immediate referral to a neurosurgeon. Owing to this risk of progressive loss of function, it is essential that individuals with MM be closely monitored throughout their life span.

Seizures Seizures have been reported to occur in 10% to 30% of children and adolescents with MM.168 The etiologies of seizure activity include associated brain malformation, CSF shunt malfunction or infection, and residual brain damage from shunt infection or malfunction. Anticonvulsant medications, which are necessary for prophylaxis against seizures, unfortunately can also accentuate any cognitive deficits or dyscoordination already present.54,155 Untreated seizures, however, can lead to permanent cognitive or neurologic functional loss, or even death.

Neurogenic Bowel Fewer than 5% of children with MM develop voluntary control of their urinary or anal sphincter.153 Abnormal or absent function of spinal segments S2 through S4, which provide the innervation to these organs, is the primary reason for the incontinence. The anal sphincter can be flaccid, hypotonic, or spastic, causing different manifestations of dysfunction during defecation. Anorectal sensation is also often impaired, preventing the individual from receiving sensory input of an imminent bowel movement so that he or she can take appropriate action. In addition to incontinence, constipation and impaction can also occur. Fortunately, conscientious attention to individually designed bowel programs can have effective results, minimizing problems of incontinence and constipation.92,153,201,202 The presence of a bulbocavernosus or anal cutaneous reflex (indicating that lower motor neuron innervation of the sphincter is present) is highly predictive of success with a bowel training program.92 King and associates92 also reported that instituting bowel training before age 7 years correlates with improved outcomes by means of better compliance. When stool incontinence is interfering with a child’s school and social activities, the physical therapist may want to become involved to help address the problem. Incontinence often affects feelings of self-

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image and competence, which in turn can affect performance in other activities pertinent to the therapist’s intervention program.

Neurogenic Bladder Just as the nerves to control defecation are impaired, so are the nerves that produce bladder control. Eighty-five percent of patients with MM have an underlying neurogenic bladder.53 A variety of different types of dysfunctions can occur, depending on the relative tonicity of the detrusor muscle in the bladder wall and the outlet sphincters of the bladder. Bladder intervention strategies are directed toward the point or points of dysfunction. The goal is infection-free social continence with preservation of renal function. Retrograde flow of urine from the bladder up the ureters to the kidneys, termed vesicoureteral reflux, can occur without symptoms or signs being evident until the later stages of irreversible renal failure. Inadequate emptying of the bladder with residual urine retention within the bladder provides an optimal culture medium for bacteria, causing recurrent urinary tract infections and possible generalized sepsis. Adequate bladder intervention is therefore an essential component of health maintenance and normal longevity of people with MM, in addition to being an important social issue. The bladder dysfunction can begin in utero (5% to 10% of newborns with MM show evidence of hydronephrosis and reflux). This is typically due to dyssynergy between the detrusor muscle of the bladder and the external urethral sphincter (i.e., the bladder contracts but the sphincter does not relax to allow the flow of urine out of the urethra). This results in high bladder pressures and vesicoureteral reflux. It is now standard practice for all newborns with MM to undergo an extensive urologic workup in the neonatal period. Early implementation of intermittent catheterization in infancy helps to prevent later problems with detrusor muscle function from overstretching the bladder wall.14 For most individuals, effective bladder intervention is achieved with clean intermittent catheterization on a regularly timed schedule for voiding. A small catheter is inserted into the bladder through the urethra until urine begins to flow. After the bladder is empty or urine stops flowing, the catheter is withdrawn, cleansed

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with soap and water, and stored for future use. It has been shown that the clean method of catheterization, as opposed to sterile technique, is sufficient for prevention of urinary tract infections.153 The risk of injury to the urethra or bladder from clean intermittent catheterization is sufficiently low to allow young children to be taught to catheterize themselves. Mastery of the technique is usually achieved by age 6 to 8 years depending on the severity of the involvement.179 Supplementation of clean intermittent catheterization with medication is frequently recommended to decrease bladder storage pressure and improve urinary continence and achieve intervention goals by altering spastic detrusor muscle function (e.g., oxybutynin [Ditropan], tolterodine [Detrol]), spastic sphincter function (phenoxybenzamine), or hypotonic sphincter function (ephedrine, pseudoephedrine, phenylpropanolamine). Medications may be delivered orally, transdermally, and via intravesicular injection. Botulinum toxin A is a relatively new addition to the therapeutic armamentarium for these patients, and onabotulinumtoxinA (Botox) has recently received US Food and Drug Administration approval for use in patients with neurogenic bladder conditions. Overnight catheter drainage has also been effectively used in a select group of patients with small, poorly compliant neurogenic bladders to decrease the risk of upper urinary tract deterioration. It is recommended that individuals with MM have regular follow-up with a urologist every 6 months until age 2, and yearly thereafter, throughout the life span.91 The physical therapist must be aware of the method used for urine drainage as it relates to wheelchair positioning, transfer techniques, and orthoses so that assistive devices do not interfere with effective performance of urine drainage techniques. It is important to allow adequate time for patients with MM to attend to bowel and bladder needs before and after examination and therapy sessions so that they are comfortable and continent during physical activities. Discomfort from a distended bladder or rectum may impair performance. Patients are often not assertive in requesting necessary time for personal care, and therapists should encourage them to do so to avoid embarrassing accidents. Sexual function is also impacted, especially by diminished or absent sensation of the genitalia. For males, a transposition of the

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ilioinguinal nerve to the dorsal nerve of the penis can provide sensation for sexual activity.144 The procedure has helped to contribute to the quality of life and overall adjustment to adulthood for adolescents and young men who have undergone the procedure.

Skin Breakdown Decubitus ulcers and other types of skin breakdown have previously been shown to occur in 85% to 95% of all children with MM by the time they reach young adulthood.172 Okamoto and associates141 performed an extensive study of skin breakdown on 524 patients with MM who were 1 to 20 years old. Perineal decubiti and breakdown over the apex of the spinal kyphotic curve (gibbus) occurred in 82% of children with thoracic level lesions, 62% of those with high lumbar level lesions, and 50% to 53% of those with lower level lesions. Lower limb skin breakdown was approximately equivalent in all lesion level groups (30% to 46%). Although the sites and causes of skin breakdown varied among lesion level groups, the overall frequency was the same. The prevalence of skin breakdown at any one time was 20% to 25% for the population sampled. Several etiologies for skin breakdown were ascertained. In 42% of the children, tissue ischemia from excessive pressure was the cause. In 23% a cast or orthotic device produced the breakdown. In another 23% urine and stool soiling produced skin maceration. Friction and shear accounted for another 10%; burns accounted for 1%; and 1% of causes were not recorded or were unknown. Other authors have described additional causes of skin breakdown.172 These include excessive weight bearing over bony prominences of the pelvis as a result of spinal deformity, obesity, lower limb autonomic dysfunction with vascular insufficiency or venous stasis, and tenuous tissue postoperatively over bony prominences. One might expect at least modest improvement in the prevalence of skin breakdown for children with MM owing to improved wheelchair cushion technologies and seating options; however, no recent studies have been performed to assess the breadth or severity of this problem. Age is an important factor in the etiology of skin breakdown.

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Shurtleff172 showed that young children who are not toilet trained have the greatest problem with breakdown from skin soiling (ammonia burns). Young active children with MM have the greatest frequency of friction burns on knees and feet from scooting along rugs, hot water scalds, and pressure ulcers from orthoses or casts. Older children, adolescents, and young adults develop skin breakdown over lower limb bony prominences (even if they did not have ulcers when they were younger) from the increased pressure of a larger body habitus, asymmetric weight bearing resulting from deformities, abrasions of the buttocks or lower limbs resulting from poor transfer skills, improperly fitted orthoses, and lower limb vascular problems. Strategies for prevention taught by the physical therapist therefore should be directed to the likely causes of skin breakdown for the age of the individual. Helping the child develop an awareness of his insensate extremities is important during the early years in order to later develop independence with personal care. Mobley and associates133 found that preschoolers with MM exhibited altered self-perception as evidenced by their drawing fewer trunks, legs, and feet on self-portraits than their able-bodied peers. Pressure sores can result in a delay or loss of ambulation.42 Skin breakdown of the insensate foot is often a cause of decreased ability to ambulate. Predictors of skin breakdown resulting from excessive pressure during ambulation or while resting feet on wheelchair footrests are foot rigidity, nonplantigrade position, and surgical arthrodesis.116 Clawing of the toes may be another contributing factor that also affects shoe wear. To avoid foot ulcerations, physical therapists should examine and document foot deformity, level of sensation, and pressure areas. The insensate foot can be protected with appropriate footwear, orthotics, or surgery. Total contact casting can be useful in healing ulcers.25

Obesity Obesity is a common and difficult multifactorial problem occurring in children with MM that complicates orthotic and wheelchair fitting and can affect independence and proficiency with transfers, mobility, and self-care activities. For children who are ambulatory,

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a greater expenditure of energy is required to participate in physical play activities, so it is likely that less time will be spent engaged in physical play and that more sedentary activities (e.g., watching television) will be adopted. Children with mobility limitations, whether they are ambulatory or wheelchair mobile, may not be well accepted by able-bodied peers when they attempt to participate in physically challenging play, or they may feel conspicuous because they have difficulty keeping up. The likelihood of participation under these circumstances is diminished. As obesity develops, this further complicates participation and negatively affects self-image, creating an undesirable cycle perpetuating weight gain. In addition, children with MM probably are at a disadvantage physiologically. Studies evaluating the caloric intake required for children with MM173 have shown that the intake should be lower than for able-bodied obese peers. This is probably not just a function of the decreased activity level of children with MM. Decreased muscle mass of large lower limb muscle groups diminishes the ability to burn calories (i.e., the basal metabolic rate of children with MM is probably lower than normal). This is consistent with the observation that children with high lumbar and thoracic lesions have greater problems with obesity. Decreased muscle mass coupled with lower extremity inactivity reduces the daily caloric needs such that a young adult who uses a wheelchair as his primary means of mobility will need fewer than 1500 calories a day to maintain his current weight.109 Liusuwan and associates105 showed that in a population of children ages 11 to 21, children with MM, when compared to a control group, have significantly less lean body mass measured using dual energy x-ray absorptiometry as well as significantly lower resting energy expenditure measured with an open-circuit indirect calorimeter. An easy and readily available mechanism to screen for obesity in the general population is height-weight ratios; however, arm span– weight ratios are more appropriate for monitoring individuals with MM. Shurtleff173 noted that height-weight ratios are not useful in children with MM because of their short stature, decreased linear length secondary to spine or lower limb deformities, and decreased growth of paretic limbs. He recommended monitoring individuals with MM by measuring serial subscapular skinfold thickness, linear

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length measured along the axis of long bones to take into consideration hip and knee joint contractures, arm span measured with a spanner, and weight measured on a platform scale (subtracting the weight of the wheelchair or adaptive aids). Results should be recorded on National Center for Health Statistics percentile charts.61 Arm span measurements should be adjusted using correction factors to avoid underestimating body fat content: 0.9 arm span for children with no leg muscle mass (thoracic and high-lumbar levels), 0.95 arm span for those with partial loss of muscle mass (mid- and low-lumbar lesions), and 1.0 arm span for children with minimal or no muscle mass loss. Del Gado and associates37 reported that in comparison to a control group, 32 children with MM had significantly lower stature, higher weights, and greater subcutaneous fat deposits in their trunks, the latter being associated with cardiovascular disease risk factors. Weight control is not just a function of decreased caloric intake for children with MM, however, and must involve a regular exercise program. The challenge of the physical therapist is to find age-appropriate physical activities for their clients that are fun and at which they can succeed; in this way, physical activity is positively reinforced and a lifelong pattern of engaging in such activities is developed. Liusuwan and associates104 piloted a program combining behavioral intervention, exercise, and nutrition education that showed promise as a method for improving health and fitness of adolescents with spinal cord dysfunction.

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Outcomes and Their Determinants Survival, disability, health, and lifestyles were investigated in a complete cohort of adults with MM in Cambridge, England.77,138 Outcomes were investigated at age 35 for 117 individuals who were born between 1963 and 1971. Sixty-three (54%) had died, primarily the most severely affected. The mean age of the survivors was 35 years (range 32 to 38), and 39 of the 54 survivors had an IQ above 80. Sixteen could walk for community distances (50 meters or more) with or without aids. These 16 individuals all had a sensory lesion level at or below L3. Thirty had pressure sores, 30 were overweight, and only 11 were fully continent. In terms of independent living status, 22 survivors lived independently in the community, 12 lived in sheltered accommodations where help was available if required, and 20 needed daily assistance. Twenty of the survivors drove cars and another nine had given up driving. Thirteen were employed, with five of them being in wheelchairs. Seven females and two males had had a total of 13 children (none with visible MM). Hunt and colleagues76 also reported that shunt revisions, particularly after the age of 2, were associated with poor long-term achievement in this same group of adult survivors with MM. Achievement was operationally defined according to their independent living status, employment, and use of a car. McDonnell and McCann121 in a commentary to Hunt and associates’ article reported more optimistic outcomes in terms of mobility and employment for shunt-treated survivors of MM in Belfast, Northern Ireland. Hunt75 reported that only 50% of adults were capable of living independently based on a sample of 69, of whom 68% had normal intelligence. In a sample of 18 patients 16 to 47 years old in Japan, Oi and associates140 reported that patients with spina bifida occulta (spinal lipoma) have a risk of neurologic deterioration whether or not they have undergone radical preventive surgery in infancy. This deterioration is primarily related to lower spinal functions, such as ambulation and bowel and bladder control, that likely result from tethered cord, reexpansion of the residual lipoma, or syringomyelia. In contrast, these authors reported psychological problems in patients with spina bifida aperta. Padua and

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associates147 reported that adolescents with MM who have relatively mild activity limitations (i.e., they are able to walk and run) but who have urologic problems need psychological support to a greater extent than adolescents with severe activity limitations and limited independence. There are many factors that contribute to the observed outcomes. The motor function present is an important factor for predicting outcomes. Common characteristics of each lesion level are described in this section. The functional motor level does not always correspond to the anatomic lesion level because of individual variations in nerve root innervation of muscles. The information presented here is intended to serve as general guidelines for expectations at a given level of motor function. Many factors besides muscle strength influence an individual’s functional potential and result in variations of performance within a given lesion level group. These factors include age, body proportions, weight, sensation, orthopedic deformities, joint contractures, spasticity, upper limb function, and cognition. The relative contribution of these factors is highly individual, and a thorough examination and follow-up of each child is necessary to maximize potential capabilities.

Thoracic Level Individuals with thoracic level muscle function have innervation of neck, upper limb, shoulder girdle, and trunk musculature, but no volitional lower limb movements are present. Banta10 stated that at the thoracic level the orthopedic goals are to maintain a straight spine, level pelvis, and symmetric lower limbs. Neck, upper limb, and shoulder girdle muscle groups are innervated by the C1 to T4 spinal nerves; back extensors by the C2 to L4 spinal nerves; intercostals by the thoracic nerves; and abdominals by T5 to L1. Consequently, individuals with motor function at or above T10 have strong upper limbs and upper thoracic and neck motions, but their lower trunk musculature is weak. They have difficulty with unsupported sitting balance and may have decreased respiratory function. Sliding boards may be required to perform wheelchair transfers because of the combination of poor trunk control and

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upper limb dyscoordination. Individuals with motor function at T12 have strong trunk musculature and good sitting balance and may have weak hip hiking by means of the quadratus lumborum (innervated by T12 to L3). Ambulation may be attempted for exercise at this level using a parapodium; however, it is generally not an effective means of mobility.103 A wheelchair is required for functional household and community mobility. Children with thoracic level lesions also tend to have greater involvement of other areas of the CNS, with corresponding cognitive deficits. Consequently, even though many of these people achieve independence with basic self-care skills and mobility by late childhood, they often require a supervised living situation throughout life. They are rarely competitively employed but often participate in sheltered workshop settings or perform volunteer work.72

High Lumbar (L1–L2) Level Individuals with high lumbar motor function have weak hip movements. The iliopsoas muscle is supplied by nerve roots L1 through L4, with its primary innervation at L2 and L3. The sartorius muscle is supplied by L2 and L3 and the adductors by L2 through L4. With L1 motor function, weak hip flexion may be present, and with L2 motor function the hip flexors, adductors, and rotators are grade 3 or better. According to Schafer and Dias,162 unopposed hip flexion and adduction contractures are often present at the L2 motor level, and this muscle imbalance often results in dislocated hips. Short-distance household ambulation is possible with high lumbar innervation (L1 and L2) when body proportions are small, using KAFOs or RGOs and upper limb support. These children generally use a wheelchair for community distances. By the second decade of life, a wheelchair is typically the sole means of mobility commensurate with increased energy requirements and enlarged body proportions.72,175 The prognosis of children with high lumbar lesions for function and independent living as adults is similar to that of the thoracic group described earlier.72 More individuals in this group, however,

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achieve independent living status (approximately 50%), but they are rarely able to maintain competitive employment as adults.

L3 Level Individuals with L3 muscle function have strong hip flexion and adduction, weak hip rotation, and at least antigravity knee extension. The quadriceps muscle group is innervated by nerve roots L2 through L4. Children with grade 3 quadriceps strength usually require KAFOs and forearm crutches to ambulate for household and short community distances and a wheelchair for long community distances. By adulthood, most individuals with L3 level lesions are primarily wheelchair mobile.72,178,190 Approximately 60% of individuals with lesions at this level achieve independent living status as adults.68 Despite their higher level of independence, only a small percentage (about 20%) actively participate in full-time competitive employment.72

L4 Level At the L4 motor level, antigravity knee flexion and grade 4 ankle dorsiflexion with inversion may be present. The medial hamstrings are innervated by nerve roots L4 through S2, and the anterior tibialis is innervated primarily by L4 and L5, with some innervation from S1. An individual is considered to have L4 motor function if the medial hamstrings or anterior tibialis is at least grade 3. Calcaneal foot deformities are common at this motor level as a result of the unopposed action of the tibialis anterior muscle.162 Knee extension is usually strong, and these individuals are generally functional ambulators with AFOs and forearm crutches. When first learning to walk, however, KAFOs, a walker, or both may be required. A wheelchair is often needed for long distances. In the adult follow-up study that we conducted, only 20% of individuals with L4 motor function continued to ambulate as adults.72 Many individuals stopped ambulation after their adolescent growth spurt. Others were unable to maintain ambulation because of ankle and knee valgus joint deformities and elbow and wrist pain resulting from years of weight bearing in poor alignment. To increase the likelihood of maintaining biped

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ambulation for individuals with L4 motor function throughout adulthood, upright posture should be emphasized when ambulating to minimize the weight-bearing stress on upper limb joints. Orthoses must be aligned properly and posted to support the ankle in a subtalar neutral position. If the ankle joint is malaligned, the knee joint position is adversely affected. It is essential to maintain the knee and ankle in neutral alignment when weight bearing. A flexed and valgus position should not be permitted. Ounpuu and associates143 demonstrated that 30% of the mechanical work occurs at the ankle during normal gait, underscoring the importance of controlling the ankle in order to provide proper alignment of the body to the ground reaction force. Often a patellar tendon-bearing, ground-reaction force orthotic design is optimal to protect the knee and increase the knee extension moment. The proximal medial trim line can be extended higher to provide additional medial knee support, if needed, to reduce a genu valgus deformity (see Fig. 23.4). Knee musculature should be strengthened to help maintain the knee in neutral alignment when weight bearing. Every effort should be made to progress ambulation to using AFOs and forearm crutches to allow short-distance ambulation to easily be combined with long-distance wheelchair mobility. Crutches can be transported on the wheelchair, and AFOs are optimal because, unlike KAFOs, they do not interfere with dressing or toileting and do not cause skin breakdown when sitting. The prognosis for independent living and employment is similar to that for the group with L3 lesions.

L5 Level According to the IMSG criteria, classification of an L5 motor level is based on the presence of lateral hamstring muscles with at least grade 3 strength, and either grade 2 gluteus minimus and medius muscles (L4–S1), grade 3 posterior tibialis muscles (L5–S1), or grade 4 peroneus tertius muscles (L4–S1). Therefore an individual with an L5 motor level has at least antigravity knee flexion and weak hip extension using the hamstrings and may have weak hip abduction, as well as weak plantar flexion with inversion, strong dorsiflexion with eversion, or both. Weak toe movements may also be present.

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Hindfoot valgus deformities or calcaneal foot deformities are common as a result of muscle imbalance. Individuals with motor function through L5 are able to ambulate without orthoses yet require them to correct foot alignment and substitute for lack of push-off. A gluteal lurch is typically evident unless upper limb support is used. Bilateral upper limb support is usually recommended for community distances to decrease energy expenditure, decrease gluteal lurch and trunk sway, maintain symmetric alignment, protect lower limb joints, and improve safety. The need for upper limb support often becomes more apparent with increased height following growth spurts. Traversing uneven terrain is often difficult. A wheelchair may be required when there is a rapid change in body proportions (e.g., pregnancy) or for long distances on rough terrain. A bike is also useful for long community distances. Approximately 80% of individuals with lesions at L5 and below achieve independent living status as adults.72 About 30% are employed full time and an additional 20% part time, well below the average employment rate of the general adult population.

S1 Level With muscle function present through S1, at least two of the following additional muscle actions are present: gastrocnemius/soleus (grade 2), gluteus medius (grade 3), or gluteus maximus (grade 2). Individuals with S1 motor function have improved hip stability and can walk without orthoses or upper limb support. A weak push-off is evident when running or climbing stairs. A mild to moderate gluteal lurch is often present. Vankoski and associates199 documented the benefits of crutch use for this lesion level, which resulted in improved pelvis and hip kinematics during gait. Gait deviations and activity limitations are often more pronounced after the adolescent growth spurt. The toe musculature is generally strong. Foot deformities are less common at this level, but foot orthoses or AFOs may be required to improve lower limb alignment and permit muscle groups to function at a more optimal length. Medial and lateral stability at the ankle are required for adequate function of the plantar flexor muscles during

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push-off.98

S2, S2–S3, and “No Loss” Levels Motor function is classified at the S2 level if the plantar flexor muscles are at least grade 3 and the gluteals grade 4. The only obvious gait abnormality present at this level is generally a decreased push-off and stride length when walking rapidly or running as a result of the decreased strength of the plantar flexor muscles. If all lower limb muscle groups have grade 5 strength except for one or two groups with grade 4 strength, the motor level is classified as S2–S3 according to the IMSG criteria. The term “no loss” is used if the bowel and bladder function normally and lower limb strength is judged to be normal through manual muscle testing. Functional deficits may be present, however, for individuals classified as having no loss. Foot orthoses are often used to maintain the ankle in the subtalar neutral position and optimize ankle muscle function by maintaining optimal muscle length.

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Examination, Evaluation, and Direct Interventions for Musculoskeletal Issues, Mobility, and Functional Skills There are three primary reasons for evaluating the individual with MM: (1) to define an individual’s current status so that appropriate program planning can occur, (2) to identify the potential for developing secondary impairments so that preventive measures can be implemented, and (3) to monitor changes in status that could indicate progressive neurologic dysfunction. Because of the complexity of problems associated with MM, numerous dimensions of disability must be assessed by various disciplines. The physical therapist provides essential information to other team members for program planning and to monitor status. Careful documentation is important for communication among team members and for serial comparisons over time. General examination and intervention strategies will be discussed in this section. Considerations that are specific to certain age categories are discussed in the section on agespecific examination and physical therapy interventions.

Examination Strategies The tests and measures typically used by physical therapists include ROM, muscle extensibility, joint alignment or orthopedic deformities, muscle tone, muscle strength and endurance, sensation, posture, motor development, ADLs, mobility skills, equipment needs, and environmental accessibility. It is important to follow standardized procedures, when available, that have good reliability and validity to permit comparison within and between individuals.71,185,186 (Refer to Fig. 23.7 Functional Activities Assessment for ADL performance ranges of children with MM). If more than one measurement method exists (e.g., hip extension ROM), the specific method employed should be documented and used consistently. Comprehensive examinations should be conducted at regular intervals throughout the life span on all individuals with MM. In addition, to avoid potential biases it is

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recommended that therapists remain blind to previous results of the more subjective measures (e.g., manual muscle testing scores or gait deviations) until the examination is complete. Videos and photographs are often useful adjuncts to clinical examination of gait, joint deformities, and posture. These visual records provide an excellent baseline for comparison purposes if deterioration in status is suspected. It is beneficial to conduct examination of activities that are influenced by environmental or endurance factors (e.g., wheelchair mobility, gait, or ADLs) in more natural settings. The IMSG recommends a comprehensive, multidisciplinary assessment for all individuals with MM, regardless of functional level, because they all are at risk for progressive neurologic dysfunction, as discussed earlier. The following examination intervals are recommended: newborn preoperatively, newborn postoperatively, 6 months, 12 months, 18 months, 24 months, and annually thereafter, continuing through adulthood.174 Annual examinations are suggested to occur around an individual’s birth date so that they are not forgotten. ROM, muscle extensibility, strength, endurance, coordination, and functional parameters should be monitored more closely during periods of rapid growth, when individuals with MM are at increased risk for loss of function. Family members and caregivers should be educated regarding symptoms of neurologic loss to help with monitoring. Preintervention and postintervention measurements should be obtained for individuals undergoing surgery or other therapeutic procedures. More frequent evaluation of specific goal attainment is indicated for individuals receiving ongoing therapeutic intervention. Mobility and independence with ADLs should be assessed when body proportions or environmental demands change to determine if the individual has the strength, endurance, coordination, and adaptive equipment required to function effectively. Individuals with MM should be examined on at least a yearly basis by multiple disciplines at a comprehensive care center. It is important, however, for comprehensive care centers and local school and intervention settings to coordinate their examinations, goals, and intervention programs to avoid duplication of effort and to ensure appropriate prioritization of intervention goals. The use

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of the PDMS facilitates communication and coordination of services between team members. The School Needs Identification and Action Forms158 also provide a useful format for identifying impairments, academic and activity limitations, and the remedial action recommended. The areas assessed by the school needs forms include health-related services required, physical intervention instructions, accessibility, safety and fire drills, preparation for school entry, educational rights and related services, academic difficulties, psychological evaluation, perceptuomotor deficits, visuoperceptual deficits, self-help skills, social acceptance, social and emotional issues, parent and school relationships, transitional services, and other needs. The School Function Assessment (SFA) measures needs and abilities during school-related functional tasks for kindergarten through sixth-grade students.30 The SFA consists of three sections: (1) participation in a variety of school activity settings, (2) task supports required (physical and cognitive/behavioral assistance and adaptations), and (3) activity performance in school-related functional activities (e.g., using materials, following rules, and communicating needs). The School Function Assessment Technical Report available at www.pearsonassessments.com/NR/rdonlyres/D50E4125-86EE43BE-8001-2A4001B603DF/0/SFA_TR_Web.pdf describes the standardization sample of 676 students, including 363 students with special needs from 112 sites in 40 US states and Puerto Rico.

Intervention Strategies Once primary and secondary impairments, activity limitations, and participation restrictions are identified through a comprehensive examination and evaluation, the functional significance must be determined to plan appropriate intervention strategies. Intervention of an impairment is indicated if it currently interferes with function or if the deficit can progress to a point where it may negatively affect future function. Intervention is also indicated if the efficiency, effectiveness, or safety of performance can be improved. Strength, endurance, and efficiency of performing tasks should be emphasized. Weight-bearing joints must be protected to prevent early onset of osteoarthritis and pain and to prolong mobility. In

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addition, the most efficient and effective means of mobility for a given environment should be determined. Goal setting for intervention must consider the impact of the multiple impairments discussed earlier on functional performance expectations. The cognitive, social, and behavioral issues discussed in the impairments section should also be considered. Fay and associates49 recommended three specific intervention approaches for developmental delays in this population. The first is developmental programming in which children are encouraged by parents, teachers, and therapists with a “high dose” of normal developmental activities in “at-risk” areas. The philosophy behind this approach is that supplemental early emphasis and practice in potential problem areas will minimize later deficits. These early intervention programs are often initiated for children with MM before measurable delays are identified. The second approach, remediation, is implemented once problem areas are clearly identified. This approach consists of repeating a set of graded tasks in the domain of concern. Improved performance through practice theoretically carries over into functional activities. The third approach is teaching compensatory skills. Compensation is often implemented when the other two approaches have not produced sufficient results or when the child is older or more severely impaired. This intervention approach involves identifying and developing strategies to help the child become as independent as possible or providing adaptive equipment to compensate for underlying problems and minimize disability in daily life.

Specific Examination and Intervention Strategies Specific examination and intervention strategies as they pertain to strength, mobility, gait, and equipment issues are highlighted in this section because of the magnitude of the impact of these factors on function in this population, regardless of age or lesion level. Suggestions for impairment-specific parameters (e.g., ROM, orthopedic deformities, and sensation) were discussed in the section on impairments. Developmental issues were discussed in the section on age-specific examination and physical therapy

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interventions.

Strength Upper limb, neck, and trunk musculature should be screened for weakness. If evidence of weakness exists, a more specific examination of strength should be conducted. For individuals with thoracic or high lumbar level involvement, it is important to palpate trunk musculature to determine which portions of muscle groups are functioning. Dynamometer values of grip and pinch strength should also be obtained. Kilburn and associates90 suggested that grip strength measurement can be a sensitive gauge of progressive neurologic dysfunction. Level102 provided a standardized protocol for obtaining grip strength measurements and normative values for children. Specific testing of isolated motions of lower limb muscles is essential to determine if individual muscles are functioning. Standardized test protocols should be used.73,82,88 It is essential to detect changes in strength in this population as soon as possible because loss of strength can be a sign of progressive neurologic dysfunction. As a result, we recommend using quantitative strength measurements in conjunction with traditional manual muscle testing techniques. It is also important to distinguish between reflexive and voluntary movements. Reflexive movements should be documented, but they should not be considered when determining motor lesion levels. Manual muscle testing is the most common method used to assess strength in this population because of its adaptability in a typical clinic setting. Manual muscle testing is the method of choice for screening muscle strength to determine the presence of volitional activity in specific muscles and to determine whether an individual muscle’s function varies throughout the ROM. There are several limitations to relying only on manual muscle testing scores for serially monitoring strength, as discussed in Chapter 5. Manual muscle testing has limited interrater and test-retest reliability.65 Manual muscle test scores must change more than one full grade to reliably indicate that a true change in strength has occurred.62 In addition, manual muscle testing has poor concurrent validity compared with more quantitative measures. Several

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studies have demonstrated that deficits in strength exceeding 50% are not detected by manual muscle testing.2,3,20,58,127 Agre and colleagues2 examined this issue in 33 adolescents with MM. Individuals who had been classified as having “no motor deficits” by means of manual muscle testing actually had strength deficits compared with normative data. These deficits were 40% for the hip extensor and 60% for the knee extensor muscles. The lack of concurrent validity of manual muscle testing compared with quantitative measurements demonstrates that the sensitivity of manual muscle testing in detecting weakness is limited and is inadequate for detecting early strength loss in individuals with MM. The predictive validity of manual muscle testing has been examined in two studies on children with MM. Murdoch135 examined the predictive validity of neonatal manual muscle testing examinations using a truncated 3-point scale. The correlation between muscle power of the newborn and subsequent mobility of the child at age 3 to 8 years was “very poor.” In contrast, McDonald and associates119 examined the predictive validity of manual muscle testing for individual muscle groups on 825 children with MM using the complete 0- to 5-point grading scale. Predictive validity of manual muscle testing generally increased from birth to age 5. The probability that a given manual muscle test score precisely predicted future scores varied with age and the particular muscle group tested. These probabilities ranged from 23% to 68% for newborns and from 54% to 87% for older children. The probability that a single test score predicted future strength within ±1 manual muscle test grade, however, was considerably higher, ranging from 70% to 86% for newborns and from 87% to 97% for older children. These results indicate that manual muscle testing is useful for predicting future muscle function within one manual muscle test grade. Strength test results obtained in infancy using the complete manual muscle test scale, therefore, appear to provide useful information for prognosis and for planning the course of intervention. The limited reliability and concurrent validity of manual muscle testing indicates that it is not the method of choice for monitoring changes in strength over time. In contrast, strength testing using

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handheld instruments has been found to be a reliable and sensitive method for assessing strength in children and adolescents with MM. Intraclass interrater and test-retest correlation coefficients using this technique ranged from 0.73 to 0.99.47,65 Other authors report good to high levels of reliability when testing the strength of other populations of children and adolescents with handheld instrumentation.51,67,69,74,79,123,191 Several portable, handheld instruments are available for use in conjunction with manual muscle testing.69 The advantages of these tools over nonportable instruments are that they are easily applied in typical clinic settings and can be used with standard manual muscle testing techniques to obtain objective force readings from most muscle groups. It is best to obtain three myometry trials and report the average score because the mean is more stable over time and between raters.60,65 Torque values should be reported (force times lever arm length) to permit comparison over time, regardless of changing body proportions, at least until skeletal maturity has been attained. Torque values also permit direct comparison of force production capabilities between individuals with different body proportions. Standardized testing techniques must be implemented when assessing strength with handheld instruments to ensure the consistency of measurements. Many factors influence test results and must be controlled for when testing, including test positions, instructions and commands provided, use of reinforcement and feedback, application of resistance, the type of contraction, and the examiner’s body mechanics. For more information regarding techniques used in testing with handheld instruments, see Hinderer and Hinderer.69 Several factors should be considered when testing the muscle strength of children with MM, including age, developmental level, cognitive level, ability to follow directions, attention span, motivation, motor planning skills, sensation, and proprioception. The examiner must carefully watch for muscle substitutions. This is particularly challenging in the MM population because of altered angles of pull from orthopedic deformities. It is often difficult for multijoint muscles such as the hamstrings to initiate motions. Any differences in function between end-range and midrange positions should be noted. Special considerations when testing infants and

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young children are discussed in the section on age-specific examination and physical therapy interventions. As discussed in the impairments section, several CNS complications can account for loss of muscle function in this population, necessitating serial strength testing for early detection. There are many factors that can result in normal variations in strength, however, that should also be considered when interpreting test results. These factors include changes in body proportions, hormonal influences, motor learning, illness, injury, surgery, immobilization, physical or psychological fatigue, the prior state of activity, seasonal variations, temporal factors, motivation, cooperation, and comprehension. Discussion of the specific influences of these factors is beyond the scope of this chapter. For further information regarding the impact of these factors on force production, see Hinderer and Hinderer.69 Because of the multiple factors that can influence force production, it is important to repeat the testing at more frequent intervals, if strength loss is suspected, to determine whether consistent test results are obtained. Several variables should be considered when interpreting muscle test results, including the reliability and standard error of measurement of the testing method used, the concurrent and predictive validity of test results, and factors that can account for fluctuations in strength.69 Static strength measurements should be correlated with functional measures to observe the effects of fatigue and to determine the effect of reduced strength and limited endurance on function. Individuals with neurogenic muscle weakness may have a higher degree of variability in force production as a result of the lower threshold of fatigue and slower rate of recovery of weak musculature. Local muscle endurance appears to be deficient in some neuromuscular diseases.12,129 Although this issue has not been specifically tested in the MM population, these results suggest that force production may be more variable in weak muscle groups of individuals with MM. If function is present but weakness exists in muscle groups that are important for postural stability, ADLs, mobility, or balance of muscle forces around joints, strengthening exercises are indicated. The specific muscle groups to emphasize vary depending on the

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lesion level and functional requirements. In general, strong upper limb muscle groups are required for performing transfers, for wheelchair propulsion, and when using assistive devices to walk. Increasing the strength of trunk musculature improves sitting balance and postural stability. Increasing the strength of key lower limb muscle groups that are critical for ambulation can improve gait and can possibly minimize the need for orthoses and assistive devices. For example, increasing the quadriceps and hamstrings strength in an individual with L4 motor function may enable progression of ambulation from using KAFOs to using AFOs (see the case scenario found on Expert Consult). Muscle groups should be strengthened within functional ROM. In addition to traditional strengthening exercises, many play activities promote strengthening.48 Muscle reeducation techniques such as functional electrical stimulation and biofeedback are useful to teach muscles to function in new parts of the ROM. Electrical stimulation has also been found to be beneficial to increase strength and enhance functional performance in this population.85 Strengthening programs should be implemented during periods when an individual is at risk for loss of muscle strength and endurance (e.g., after recent surgery, immobilization, illness, or bed rest) and during periods of rapid growth when individuals often lose function as a result of changes in body proportions. Endurance activities are also important for weight control and to enhance aerobic capacity. Individuals with MM must have adequate endurance to meet the challenges of community mobility. Low-impact aerobic activities to minimize joint stress are preferable. In general, jumping activities should be avoided because joint stress is increased as a result of the inadequate deceleration provided by weak lower limb muscles. Indications for endurance training and instruction in energy conservation techniques include decreased aerobic capacity, high energy cost of mobility, and limited endurance.

Mobility Ineffective mobility is a hallmark of MM. Effective mobility is defined as any efficient and effective means of moving about in space that enables the individual to easily traverse and explore the

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environment, grow and develop, and independently pursue an education, vocation, or avocation.175 Mobility options provided should meet these criteria for all environments encountered by the individual so that lifestyle is not limited by endurance and difficulty traversing uneven terrain. Changes in body proportions can significantly affect mobility. Mobility options, orthoses, and assistive device requirements that are ideal at one time may not be effective once body proportions, environmental demands, or both change. Consequently, the appropriateness of adaptive equipment and mobility options must be reevaluated throughout the life span. Health care providers should emphasize this point to patients to help prevent the feeling of failure if alternative mobility options are required in the future. Too often, individuals with MM grow up being praised for walking instead of using a wheelchair or for walking without assistive devices, depending on their lesion level. This emphasis gives the impression that normal biped ambulation is the only socially acceptable form of mobility. Several of the adults in our follow-up study reported that it was difficult to accept the use of a wheelchair or other assistive devices as they grew up because they felt that they were a failure or that they would disappoint their parents and health care providers.72 It is important to emphasize that wheelchairs and other assistive devices are aids for effective mobility and that their use does not represent a failure of biped ambulation. Bed mobility, floor mobility, wheelchair mobility, ambulation, and transfers should be assessed and compared with the requirements for independent function. Criteria for assessing mobility parameters are endurance, efficiency, effectiveness, safety, degree of independence, and accessibility. Objective information regarding these parameters is often helpful to convince children and their parents that alternative methods of mobility should be considered. Efficiency can be estimated by measuring the time required to complete a task. Energy expenditure can be estimated by measuring heart rate (HR). Regression equations have been determined for this population to equate heart rate with the energy expenditure required for a given task.205 The regression equations for energy expenditure and efficiency of this population are as

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follows:

Criteria for determining the most practical and effective mode of mobility for household and community distances are provided in Box 23.2. Standardized tests that are useful for assessing mobility in the population with lower level lesions are discussed in Chapter 2. In addition, the Timed Test of Patient Mobility83 is beneficial for assessing the efficiency of mobility because the time required to perform bed mobility, transfers, wheelchair mobility, and gait mobility tasks is documented. Normative data are available for comparison purposes.83 We suggest augmenting the efficiency time score of the Timed Test of Patient Mobility with a rating scale for the level of independence, safety, practicality, and assistive devices required for each task.72 Other tests that are specific to function in wheelchairs include the Functional Task Performance Wheelchair Assessment of positioning, reaching, and driving tasks36 and the Seated Postural Control Measure for sitting posture and functional movements.50

Gait Delays in achieving ambulation can be expected for all children with MM, including those with sacral level lesions, and children with high level lesions may cease walking after a period of 3 to 4 years of biped ambulation.203 Thorough examination and documentation of gait status are essential to monitor functional motor status and to watch for signs of progressive neurologic dysfunction. Patients or their parents typically notice changes in

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gait patterns and walking endurance before they notice increased muscle weakness. Careful gait observation is also needed to determine the most appropriate orthoses and assistive devices. Examination of orthoses and assistive devices for wear patterns helps determine if they are being used on a regular basis or just to perform in the clinic setting. Gait should be assessed in a natural environment on a variety of walking surfaces. Patients should be observed walking for typical household and community distances to determine the effects of fatigue. The 10-meter walk test for gait velocity and the 6-minute walk test for endurance are standardized tests that are useful for assessing upright mobility in clients with MM. More information about these tests is provided in Chapter 2 of this text-book. All too often, decisions regarding gait problems and the need for orthoses and assistive devices are made by observing short-distance ambulation on a smooth clinic floor. Performance in the home or community environment may be vastly different from in a clinic situation, especially when walking around a number of obstacles, when in congested areas, when traversing uneven terrain, or with inclement weather. The impact of these factors must be considered when making recommendations. Requirements for orthoses and ambulatory aids should be documented. Gait deviations should be closely observed and recorded. If possible, gait deviations and efficiency parameters both with and without orthoses and assistive devices should be observed. Typical gait parameters assessed include arm swing, trunk position and sway, pelvic tilt and rotations, compensated or uncompensated Trendelenburg position, excessive hip flexion and rotation, excessive knee flexion or hyperextension, toe clearance, foot position, push-off effectiveness, and foot progression angle. Observational gait analysis is the technique used most commonly to assess gait in clinical settings.95 Video analysis augments clinical observations by allowing the evaluator to observe gait multiple times at slow speeds and by providing a permanent record that is invaluable for comparison purposes if deterioration of functional status is suspected. The interrater reliability of observational analysis through videos, however, has been reported to be low to moderate.46,95 Footprint analysis is a low-cost method of obtaining

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objective information regarding velocity, cadence, foot progression angle, base of support, toe clearance, stride length, and step length.170 More sophisticated methods of objective gait analysis are described by Stout in Chapter 34, Development and Analysis of Gait (on Expert Consult). Criteria for the effectiveness, efficiency, and safety of household and community ambulation are provided in Box 23.2. Efficiency and practicality of ambulation can be estimated by monitoring heart rate, normal and fast walking velocity, and maximum walking distance. Other time-distance variables (e.g., step and stride length, cadence, and cycle time) provide useful information regarding symmetry, stability, and function. These variables can be used for comparison purposes if they are normalized (adjusted) for stature.156 Time-distance variables provide information about gait symmetry by comparing right-left differences in step lengths and stance-to-swing phase ratios. Examining cadence and the percentage of time spent in the stance phase versus the swing phase provides information regarding the stability of gait. For instance, a high cadence or an imbalance in the stance versus swing phase duration may indicate instability. Parameters such as walking velocity and cadence provide information regarding the functional practicality of gait. If the velocity is too low or step rate is too high, the individual may not be able to meet environmental demands. It is essential to normalize time-distance variables for stature to compare these parameters serially over time for a given individual or to compare between individuals of different stature (e.g., comparing with normative data). These parameters are normalized by dividing by leg length. An alternative but less precise method of normalizing time-distance parameters is to divide by height because overall height is closely correlated to individual limb lengths. If these parameters are not normalized for stature, conclusions regarding differences in function may be confounded by changes in body proportions over time. Indications for lower limb orthoses are provided in Box 23.3. Specifications and their effect on gait are outlined in Box 23.4. Indications for gait training include when a child is first learning to walk; when there is potential for progression to a new type of

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orthosis or upper limb aid; for progression to a more efficient gait pattern (e.g., from a four-point to a two-point alternative gait); when there is potential for improving gait (e.g., crouched gait pattern, excessive foot progression angle); to improve safety and confidence with advanced walking activities (e.g., walking on inclines, rough terrain, steps; learning to fall safely and stand up independently from floor; carrying and lifting objects); and to improve the efficiency and safety of gait, transfers, and intervention of aids. Strength of the quadriceps muscles has been suggested by some authors to be the best predictor of ambulatory potential in children with MM164,205; others indicate that iliopsoas muscle strength is better.118 McDonald and associates118 examined the relationship between the patterns of strength and mobility in 291 children with MM who had received at least three serial standardized strength examinations after age 5 and who were classified for their mobility status as community ambulators, partial (household) ambulators, and nonambulators. Iliopsoas muscle strength was found to be the best predictor of ambulation. The quadriceps, anterior tibialis, and gluteal muscles also were determined to have significant importance for ambulation in these children. Grade 0 to 3 iliopsoas strength was always associated with partial or complete reliance on a wheelchair. Patients with grade 4 to 5 iliopsoas and quadriceps muscle strength were almost all community ambulators, and no members of this group were completely wheelchair dependent. Children with grade 4 to 5 gluteal and anterior tibialis muscle strength were all classified as community ambulators and did not require the use of an assistive device or orthosis. Key muscle groups for community ambulation, listed in order of importance, are the iliopsoas, gluteus medius and maximus, quadriceps, anterior tibialis, and hamstring muscles.12 Specific strength of these muscles accounted for 86% of the variance in mobility status. Gluteus medius muscle strength was found to be the best predictor of requirements for aids or orthoses. In individuals with gluteus medius strength grade 2 to 3, 72.2% required aids, orthoses, or both. If activity in this muscle was absent or trace, 95.7% required aids, orthoses, or both. In contrast, if gluteus medius strength was grade 4 to 5, only 11.2% required aids,

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orthoses, or both. Mazur and Menelaus117 reported that 98% of all individuals with quadriceps strength of grade 4 to 5 were at least household ambulators, with 82% being community ambulators. In contrast, for individuals with quadriceps strength of grade 3 or less, 88% were exclusive wheelchair users. Agre and associates2 reported that maximum walking velocity was correlated with hip and knee extensor muscle strength. They compared the energy expenditure and efficiency of ambulation in children with MM versus able-bodied peers and found that children with MM used almost twice as much energy when walking and had a 41% lower ambulation velocity. They also reported that mobility in a wheelchair was considerably more efficient than walking, approximating normal gait in terms of energy requirements. In addition, individuals classified as having “no loss” by means of manual muscle testing had a decreased walking velocity and increased energy expenditure compared with able-bodied peers.

Equipment A wide variety of adaptive equipment typically is required for individuals with MM. Equipment needs vary considerably with level of lesion and age. Therapists must be aware of the available options and be able to select the most appropriate type of equipment for a given situation. In addition, it is important to educate parents and patients regarding the fit and appropriateness of adaptive equipment so that they can be knowledgeable consumers. It is beyond the scope of this chapter to discuss specific equipment items. See Baker and Rogosky-Grassi,8 Knutson and Clark,93 and Pomatto152 for further information regarding adaptive equipment and orthoses for this population. Indications for lower limb orthotics are provided in Box 23.3. Design specifications, objectives, and considerations when assessing the components and fit of orthoses are included in Box 23.4. Examinations of adaptive equipment and orthotics should be conducted on at least a yearly basis. Examinations should occur more often during periods of rapid growth; when environmental demands change (e.g., changing school or work settings); when there are changes in lifestyle, goals, or vocation; or when there is a

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change in status that may affect motor control or mobility.

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Summary Few populations challenge the skill and knowledge domains of the physical therapist as extensively as individuals with MM. This discussion has highlighted the multitude and complexity of problems encountered by children and adolescents with MM. Each lesion level group has general functional expectations that help direct physical therapy goals from an early age. Although MM is a congenital-onset problem requiring intervention by the physical therapist during infancy and childhood, most of the impairments and functional deficits described in this chapter occur throughout the life span. Individuals with MM should be followed on a regular basis, even as adults, in multidisciplinary specialty clinics by care providers familiar with this population. Because the physical therapist has extended contact with these individuals from infancy through adolescence, the therapist plays an important role in screening and triaging for potential problems, in addition to more traditional physical therapy roles. The challenges and rewards of working with this population are therefore extraordinary.

Case Scenarios on Expert Consult The cases related to this chapter present two case scenarios (Sally and Megan), along with an additional case scenario presented on video (Megan). Each of the cases illustrates several of the management principles discussed in this chapter.

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Foreground Information Age-Specific Examination and Physical Therapy Intervention There are issues of particular importance for specific age groups with MM. Intervention should be provided to keep pace with the normal timing of development.18,171 Throughout the life span, it is important to keep in mind the overall picture of the needs of the patient and family. The medical problems and the number of health care professionals involved in the care of individuals with MM can be overwhelming. Many members of other disciplines, in addition to the physical therapist, may also be making requests of the family’s time. Each professional should prioritize his or her goals relative to those of other disciplines and coordinate planning so that the demands placed on the patient and the family are realistic. It is best to work as a team with the family and other disciplines to integrate appropriate intervention programs into the patient’s daily routine. In addition, if conflicting information is provided to parents, they often become confused and may lack appropriate information to set realistic goals for their children and adolescents (e.g., goals for mobility, self-care, employment, and independent living). Consequently, multidisciplinary team collaboration with the family is important to establish appropriate goals and expectations. The following sections focus on special considerations throughout the life span. Four age groups are discussed: infancy, preschool age, school age, and adolescence. Participation restrictions that are typically present, as well as the causes and impact of activity limitations on expected life roles, are discussed for each of the four age groups. Examination and evaluation of body structure and function, activity limitations, and participation restrictions, along with recommendations for ongoing monitoring, typical physical therapy goals, intervention, and strategies to prevent secondary impairments and activity limitations, are also discussed. In addition, typical secondary participation restrictions and activity limitations encountered during adolescence and their

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impact on the transition to adulthood are discussed in the section on adolescence and transition to adulthood. The information presented in this latter section has important implications for preventive intervention during childhood and adolescence to minimize the incidence of acquired impairments and activity limitations that often surface later in life. It is important to keep in mind that the interaction of a multitude of impairments may affect an individual’s functional performance, yet only a few key impairments are discussed for each age group. The reader is referred to the previous section on impairments for a more thorough discussion of other factors. Similarly, only key examination and intervention strategies that are specific to a given age category are discussed in each section. Common goals across the life span are to prevent joint contractures, correct existing deformities, prevent or minimize the effects of sensory and motor deficiency, and optimize mobility within natural environments.117

Infancy Typical Participation Restrictions: Causes and Implications The multiple impairments and overwhelming medical needs of a newborn with MM may interfere with parent-infant interaction. Parents are often afraid to handle their infant with MM, and the opportunities for handling and interacting with their child may be further limited by medical complications. Parents and extended family members may be cautious in handling the infant, resulting in decreased stimulation. Naturally occurring opportunities for early environmental stimulation, observation, exploration, and social interaction also may be limited as a result of somatosensory and motor deficits, hypotonia, and visual deficits. Family and infant interaction may be further impeded by the additional parental duties required (e.g., bowel and bladder intervention), frequent medical visits, and hospitalizations for complications. The achievement of fine motor and gross motor developmental milestones is usually delayed during infancy because of multiple impairments, including joint contractures and deformities, motor and sensory deficits, hypotonia, upper limb dyscoordination, CNS

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dysfunction, visual and perceptual disorders, and cognitive deficits. The lack of normal infant movements, combined with impaired sensation, decreases kinesthetic awareness and inhibits perceptuomotor development. Independence with early ADLs such as holding a bottle or finger feeding is also negatively affected by impairments resulting from MM, especially swallowing disorders, upper limb dyscoordination, and visuoperceptual deficits.

Examination of Impairments As discussed in Chapter 5, therapists must be aware of normal physiologic flexion of the hips and knees when assessing newborns. Limitations of up to 35° are present in normal newborns. These contractures may be more pronounced at birth in the infant with MM after prolonged intrauterine positioning of the relatively inactive fetus. Physiologic flexion spontaneously reduces in ablebodied infants from the effects of gravity and spontaneous lower limb movements. Physiologic flexion of infants with MM typically does not spontaneously reduce because of decreased or absent spontaneous lower limb activity secondary to muscle weakness. Consequently, contractures may develop even in children with sacral level function if they lack full strength of the gluteal muscles. Two primary orthopedic concerns during this period are to identify and manage dislocated hips and foot deformities. Early orthopedic intervention of these deformities results in improved potential for standing balance and more timely achievement of motor milestones such as sitting and walking.115,124 Achieving a plantigrade foot position is important regardless of ambulatory prognosis. Plantigrade alignment is optimal for shoe fit, positioning and weight distribution in sitting, and stability when bearing weight for standing pivot transfers or ambulation. When assessing muscle tone in infants, either the Harris Infant Neuromotor Test63 (HINT) or the Movement Assessment of Infants29 is a useful tool. Hypotonia is typical in infants with MM, even if sacral level function is present.207 Poor head control, delayed neck and trunk righting, automatic reactions, and low trunk and lower limb muscle tone are typical. A mixture of hypotonia and spasticity may be present in the limbs. It is important to distinguish between voluntary and reflexive movements when assessing

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muscle function. One of the key physical therapy considerations in managing the newborn with MM is to establish a reliable baseline of muscle function. This baseline is important for predicting future function and for monitoring status. In addition, it is important to identify muscle imbalance around joints and existing joint contractures that are unlikely to reduce spontaneously. In the newborn, muscle function is assessed before and after surgical closure of the back to determine the extent of motor paralysis. Sidelying is usually the position of choice for testing the newborn to avoid injury to the exposed neural tissue.163 The state of alertness must be considered and documented when testing newborns or infants. Repeated examinations may need to be conducted at different times of the day to observe the infant’s muscle activity in various behavioral states. Optimal performance cannot be elicited if the infant is in a sleepy state. Muscle activity is best observed when the infant is alert, hungry, or crying. Several techniques can be used to arouse the drowsy infant, including assessing limb ROM, rocking vertically to stimulate the vestibular system, and providing tactile and auditory stimulation.69,163 Ideally, the infant’s spontaneous activity should be observed in supine, prone, and sidelying positions before the examiner starts handling the infant. Handling the infant may suppress spontaneous activity. Movement can often be elicited through sounds, visual tracking, reaching for toys, tickling, placing limbs in antigravity positions to elicit holding responses, and moving limbs to end-range positions to see if the infant will move out of the position.69 For older infants, muscle activity can be observed, palpated, and resisted in developmental positions. If leg movements in myotomes caudal to the MM occur concurrently with performance of general movements in infants, functional neural conduction through the MM is implicated.184 Therapists often do not record specific strength grades for infants and young children. Instead, either a dichotomous scale (present or absent) or a 3-point ordinal scale (apparently normal, weak, or absent) is often advocated.135,146,163 This 3-point scale, however, lacks sensitivity and predictive validity.135 In contrast, specific manual muscle test strength scores (grades 0 to 5) have been found to

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provide useful information for infants and young children with MM and are predictive of later function.120 Consequently, when strength is assessed manually, we recommend using the full manual muscle testing scale, regardless of age. The estimated quality of the examination should also be recorded, indicating the examiner’s degree of confidence in the results based on the child’s level of cooperation. Neck and trunk musculature should be graded as “normal for age” if the child is able to perform developmentally appropriate activities.88 Testing sensation in infants and young children presents special challenges. Complete testing of multiple sensory modalities is not possible until the child has acquired sufficient cognitive and language abilities to accurately respond to testing.163 Parents can often provide useful information to help focus on probable insensate areas. It is best to test the child in a quiet state. Testing with a pin or other sharp object should begin at the lowest level of sacral innervation and progress to more proximally innervated dermatomes until a noxious response is noted (e.g., crying or facial grimace). Teulier and associates194 used a motorized treadmill to evaluate stepping responses of infants with MM from 1 to 12 months of age. Treadmill practice elicited steps and increased motor activity. Holding infants with MM on a moving treadmill resulted in 17% more motor activity of their entire body during the year than holding them on a nonmoving treadmill. Infants with MM stepped less than typically developing infants (14.4 versus 40.8 steps/minute), however, and they were less likely to produce alternating steps than typically developing infants at any age level. Responses were affected by lesion level but varied markedly among infants because of other confounding factors such as shunt revisions, medications, joint and ligament structures, and family support resources. Infants with the highest lesion levels (L1–3) exhibited a very low step rate over time, which the authors proposed was due to marked delays in muscle strength and limb control, rather than an innate lack of capacity as three of four infants in this group developed the ability to walk with walkers by 44 months of age. In contrast to interlimb stepping patterns, the within-limb step parameters of infants with MM were quite similar

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to typically developing infants. The authors plan to study the potential for treadmill practice to produce positive outcomes for infants with MM such as increasing muscle and cardiovascular strength, bone density, and neuromotor control required for upright locomotion.

Ongoing Monitoring During the first year of life, it is important to monitor joint alignment, muscle imbalance, and the development of contractures. Typical lower limb contractures that develop are hip and knee flexion contractures combined with external rotation at the hips. Children with weak or absent hip musculature often lie in a “froglegged” position with the hips flexed and externally rotated and the knees flexed. Consequently, these muscle groups are typically in a shortened position. It is important to closely monitor ROM and muscle extensibility during periods of rapid growth. Soft tissue growth typically lags behind skeletal changes, resulting in decreased extensibility. Stretching exercises should be initiated early on, if indicated, when contractures are relatively flexible and respond well to intervention. If orthoses or night-positioning splints are used to correct orthopedic deformities, the fit of these devices should be monitored to prevent skin breakdown. Changes in muscle tone and muscle function are observed with progressive neurologic dysfunction. Baseline measurements, therefore, are essential, and these parameters should be closely monitored. Therapists should also watch for behavioral changes, decreases in performance, and other subtle signs of shunt malfunction (see Box 23.1) or seizure disorders. Motor development must also be observed to determine whether an infant is keeping pace with normal developmental expectations. Abnormalities in any of these areas should be reported to the child’s primary care physician.

Typical Physical Therapy Goals and Strategies During the newborn period, physical therapists must be sensitive to the feelings and needs of parents and other extended family members who are learning to cope with the overwhelming problems of a child with MM. Parents go through a period of

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tremendous adjustment. They are required to meet the demands of a normal infant, plus deal with the extensive medical and surgical needs of their newborn and adjust to the long-term implications of their child’s multiple impairments. Not all instructions may be assimilated at any one time given the large amount of information to which parents are asked to attend. Often instructions must be reviewed and reinforced during subsequent visits. Written instructions should be provided to augment verbal explanations. If ROM is limited, parents should be instructed in positioning techniques. It is optimal to maintain ROM by means of positioning because little additional time is required of the family. If contractures do not resolve with positioning, or if contractures are not supple, parents should also be instructed in stretching exercises and soft tissue mobilization techniques. It is usually most efficient to perform stretching exercises and soft tissue mobilization techniques in conjunction with diaper changes. For infants who exhibit hypotonia, parents should be instructed in handling techniques to facilitate head and trunk control. Techniques advocated for children with hypotonic cerebral palsy21 are often beneficial. Parents should be encouraged to provide sitting opportunities for the infant to facilitate the development of head and trunk control. Additional head and trunk support are often required in high chairs, strollers, and car seats. If motor development is significantly delayed and requires intervention, optimal handling techniques and treatment methods to improve posture and motor control discussed in the Infancy section in Chapter 19 in this text are potentially applicable to this population as well. Therapeutic interventions and adaptive equipment should ideally be planned to keep pace with the normal timing of development so that the child is provided with typical developmental experiences. During the latter half of the first year, preparatory activities for mobility are indicated. Emphasis should be placed on balance, trunk control, and facilitating an upright posture as the child progresses through the developmental sequence.

Prevention of Secondary Impairments and Activity Limitations

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Parents should be instructed in proper positioning, ROM, and handling techniques with the lower limbs in neutral alignment to prevent the development of contractures. If the hips are dislocated or subluxed, parents should be instructed in proper positioning, double diapering, and the use of a night-positioning orthosis, if indicated.158,162 If surgery is indicated to relocate hip dislocations (see previous section on orthopedic deformities), it is generally performed after 6 months of age. Foot deformities are generally treated through serial casting or positioning splints. Parents should also be instructed to inspect insensate skin areas during diaper changes and dressing for signs of pressure or injury. Parents need to understand the importance of skin inspection and that insensate areas should be inspected on a daily basis throughout the life span.

Toddler and Preschool Years Typical Participation Restrictions: Causes and Implications The achievement of fine motor and gross motor developmental milestones continues to be delayed. Mobility is typically impaired in this population owing to orthopedic, motor, and sensory deficits. As the child nears the end of the first year of life, it is important to provide opportunities for environmental exploration. If the child does not have an efficient, effective mode of independent mobility by the end of the first year, provision of a mobility device is indicated. Environmental exploration is essential for the development of initiative and independence. Limited early mobility may result in a lack of curiosity and initiative and may negatively affect other aspects of development.15,27,175 If a toddler does not have an effective means of independently exploring and interacting with the environment, he or she may learn to be passively dependent. The negative influence of limited early mobility on personality and behavior development can persist throughout life. Passivedependent behavior is a commonly observed personality trait of adolescents and adults with MM. Limited mobility also negatively affects socialization, especially

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interaction with other children. If a stroller is used as the primary mode of community mobility beyond the normal age of weaning a child from a stroller, other children will view the child with MM as a “baby.” Play opportunities are also limited if a child does not have an effective means of mobility. Independence with ADLs is often impaired in this population because of fine and gross motor impairments, upper limb dyscoordination, and CNS dysfunction. Children who are not independent with ADLs may miss out on normal childhood experiences (e.g., play time) while waiting for others to assist them with basic skills. Their self-esteem may also be negatively affected if other children tease them regarding their dependency. It is important that parents, child care personnel, and preschool teachers be aware of other motor deficits that are often exhibited in this population, such as poor eye-hand coordination. The potential impact of these deficits on functional performance in handwriting and the acquisition of ADL skills such as feeding and dressing should be realized so that reasonable goals can be established and the use of appropriate adaptive equipment implemented.

Examination and Evaluation of Impairments and Activity Limitations By the end of the first year, ROM is expected to be within normal limits. If limited ROM persists, it is important to distinguish between fixed and supple contractures, determine muscle extensibility, and evaluate orthopedic deformities to determine whether they are fixed or flexible. To assess strength, functional muscle testing techniques are advocated for children 2 to 5 years old because they may not cooperate with traditional test procedures.69,146 Functional activities that are helpful in determining the strength of key lower limb muscle groups include gait observations, heel- and toe-walking, climbing up and down a step, one-legged stand, toe touching, squat to stand, bridging, bicycling while supine, the Landau position, prone kicking, the wheelbarrow position, sit-ups, pull to sit, and sitting and standing push-ups. It is often possible for young children to cooperate with isolated muscle actions by having them push against a puppet to show how strong they are. To elicit the

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cooperation of older preschoolers (3- to 4-year-olds), it is often helpful to name the muscle and describe its “job” (the muscle action). The children think that the muscle names are humorous, maintaining their attention. Asking children to have the muscle do its “job” makes strength testing more understandable.65 We have found it possible to obtain objective, reliable measures of strength from children as young as 4 years of age using handheld myometry techniques.69 The degree of confidence regarding whether the child’s optimal performance was elicited should be recorded. Once the child is 2 years of age, light touch and position sense can usually be assessed by eliciting tickling responses or having the child respond to the touch of a puppet. Other sensory modalities can ordinarily be accurately tested once the child is 5 to 7 years old. The accuracy of responses often must be double-checked because of short attention span and response perseveration. Two sensory testing techniques minimize perseveration of responses. The first is to randomly alternate between testing light touch and pinprick and have the child identify the type of sensation. The second is to have the child point to the spot that was touched and correctly state when no area was touched. Fine and gross motor development should be measured using appropriate standardized tests such as those discussed in Chapter 2 of this text. Examination of ADLs should focus on what the individual actually does on a daily basis, in addition to what she or he is capable of doing. If independence with ADLs is limited, appropriate adaptations and interventions should be implemented to foster independence. The Functional Activities Assessment142,185,186 provides specific ADL performance data for MM (Fig. 23.7). Items may be scored by direct observation or by parent report. Assistive devices required to perform a given task are also documented. The “Can” and “Does” scoring format permits the examiner to record what the child can do versus what the child actually does on a regular basis. In addition, if the child is directly observed performing the task, the degree of independence and the time to complete the task are recorded.

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FIG. 23.7 Functional activities assessment. The age at

which 20%, 50%, and 80% of a group of 173 children with MM learned dressing (A), grooming (B), and eating (C) skills is indicated by the beginning of, space between (white space), and end of the black bars, respectively. Triple asterisks indicate that this group never achieved an 80% learning proportion. Dotted line indicates activity was attempted with this group. The bars in each category represent, from top to bottom, (1) thoracic and L1–L2; (2) L3 and mixed lesions, L2– L4; (3) L4–L5; and (4) sacral-level groups. All data were recorded as the child achieved the skill during the 2.5-year period of the study, within 4 months of entering the study, or when the caretaker entered a specific date of achievement in the child’s diary. These

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charts were created from data published by Okamoto and associates142 and Sousa and associates.186 (From Shurtleff DB, editor: Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune & Stratton, 1986.)

Ongoing Monitoring Joint alignment, muscle imbalance, contractures, posture, and signs of progressive neurologic dysfunction should continue to be monitored. Contractures that seem insignificant during childhood may become functionally limiting once the individual has adultsized body proportions. For example, knee extension contractures can interfere with the ability to maneuver in a wheelchair.

Typical Physical Therapy Goals and Strategies Joint alignment, contractures, muscle strength, and postural alignment should continue to be treated as necessary. Proper positioning in sleeping and sitting should continue. If stretching or strengthening exercises are indicated, it is often helpful to involve other family members in the exercise program so that the child does not feel singled out. For ambulatory candidates with weak hip and knee musculature, strengthening activities may be beneficial if the child is cooperative. In addition to traditional posture exercises,88 many play activities promote strengthening and the development of good posture.48 The use of therapy ball techniques to strengthen postural muscles is also beneficial. Muscle reeducation techniques, such as functional electrical stimulation and biofeedback, are useful to teach muscles to function in new ROM after stretching exercises. Electrical stimulation has also been found to be beneficial in increasing strength and enhancing functional performance in this population.85 During the preschool years, the focus is on improving the independence, efficiency, and effectiveness of ADLs and mobility. Development of independence with dressing and feeding should be encouraged. Appropriate guidance should be provided so that parents have age-appropriate expectations. It is important for young children to actively participate in skin inspection, bowel and bladder intervention, donning and removing orthoses, wheelchair

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intervention, and other ADL tasks. Teaching these skills early on and actively involving the child facilitates independence and incorporation of these activities into the daily routine. As a result, these extra responsibilities required of the child with MM become as natural as other ADLs such as brushing teeth. Waiting to introduce tasks until the child is older often is met with resistance, especially when the child observes that siblings do not have the same requirements. By kindergarten age, children without disabilities are able to dress and toilet themselves (with the exception of some fasteners), eat independently, and be mobile.49 These skills must be emphasized at an early age in children with MM so that they achieve independence by the time they begin school. A wide range of age of achievement of independence with ADLs is evident in this population when examining the normative data provided on the Functional Activities Assessment (see Fig. 23.7). This wide variability in age of achieving skills within a given motor level suggests that a significant percentage of children are delayed in ADL skill acquisition because of attitudes and expectations. Fay and associates49 suggested that these delays may be partially caused by low parental expectations and protective attitudes, perceptions that it is faster for the parent to perform the task, and parental difficulty accepting the reality of the child’s activity limitations. Showing parents the ADL normative data for children with MM and promoting positive parental expectations of independence are beneficial. It is important for parents to positively reinforce the child’s attempts to be independent so that she or he is motivated to achieve. It is also important to help the parents understand how incontinence retards their child’s normal sexual exploration, learning, and social inhibitions that normal preschool children learn. Alternative opportunities should be offered to children with MM.22 Skin inspection and pressure relief techniques should be taught early so that they are incorporated into the daily routine. Proper intervention of lower limbs and joint protection techniques should be taught to avoid injury of insensate areas when learning how to perform ADLs such as transfers. The impact of sensory deficits on functional performance should be kept in mind during gait training

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and when teaching other functional tasks. Provision of an effective means of independent mobility is essential for young children. Consequently, if a child does not begin maneuvering effectively within the environment by 1 year of age, alternative means of mobility must be considered to achieve independent home and short-distance community mobility.27,175 Mobility options should be explored and implemented as frequently as is needed so that the child is able to actively participate in normal childhood activities. Various mobility options are available from manual devices such as a caster cart to electric wheelchairs. Electric wheelchair use has been found to be feasible and beneficial for children as young as 24 months of age.27 If a wheelchair is indicated, it is important to present this option to the parents in a positive way. Based on our clinical experience, the use of a wheelchair does not preclude walking. In fact, children who use wheelchairs at an early age generally are more interested in mobility, independence, and environmental exploration. Consequently, they tend to be more independent in all forms of mobility later in life. For example, Ryan and associates159 recommended introducing a wheelchair as early as 18 months to enable children to keep up with their peers, boost self-confidence, facilitate independence, and increase activity levels. A more recent case report110 suggests that it is potentially feasible to train infants as young as 7 months old to safely operate a power mobility device. Preparatory activities for mobility are indicated for 1- to 2-yearolds. Emphasis should be placed on balance, trunk control, and facilitating an upright posture. For ambulatory candidates, once the child begins to pull to stand, the need for orthoses to improve weight-bearing alignment should be considered. It is important to anticipate future ambulatory needs when recommending orthoses to maximize their utility. For children with high-level lesions (thoracic to L3), preparatory activities for wheelchair mobility should be emphasized (e.g., sitting balance, arm strengthening, transfer training, wheelchair propulsion, and electrical switch operation if indicated). The focus of wheelchair training for toddlers and preschoolers with high-level lesions should include mobility, environmental exploration, safety, and transfer skills. Household distance ambulation using a

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parapodium, HKAFO, knee-ankle-foot orthosis (KAFO), or reciprocating gait orthosis (RGO) may be attempted, but energy expenditure is very high. Consequently, wheelchairs are generally used for community mobility of children with thoracic to L3 motor function, particularly once body proportions increase. Effective biped ambulation is feasible for toddlers and preschoolers with L4 and below motor function. They will require wheelchair skills as older children, however, to participate in sports and prolonged activities. It is essential to maintain adequate ROM and to emphasize an upright posture so that weight-bearing forces are properly distributed and muscles can function at their optimal length. Therapeutic activities that promote trunk control and balance are beneficial. Children with lumbar level lesions will require upper limb support for walking. In general, a reverse-facing walker is best when the child is learning to walk because it allows the child to be upright and minimizes upper limb weight bearing. Reverse-facing walkers have been found to promote better postural alignment than anterior-facing walkers.106 At the point an upright gait is established, the child can be advanced to forearm crutches. If children with sacral level motor function require upper limb support to begin walking, a reverse-facing walker is also usually best to minimize upper limb weight bearing. Alternatively, forearm crutches can be used if the child is able to walk upright while manipulating the crutches. Children with L5 and S1 level lesions often abandon their upper limb aids when they are young and their center of mass is low to the ground. Upper limb aids may still be indicated for endurance and to decrease trunk sway when walking long distances, for balance when walking on rough terrain, or to minimize the stress on weight-bearing lower limb joints. The need for upper limb aids should be reevaluated when the child is older and body proportions and environmental demands have changed. The use of positive reinforcement is often recommended for this population to enhance cooperation with examination procedures and intervention programs. In general, food is not an appropriate form of reinforcement because obesity is often a concern. Verbal reinforcement is preferred at this age.

Prevention of Secondary Impairments and Activity

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Limitations Individuals are at risk for joint contractures when there is muscle imbalance around joints, when a substantial portion of the day is spent sitting, when there is a prolonged period of immobilization or bed rest, following surgery, and during periods of rapid growth when soft tissue growth may lag behind skeletal changes. It is important to closely monitor individuals with MM during these periods so that intervention can be initiated early on, if needed, when contractures are still flexible and respond well to intervention. Early detection and intervention of contractures can prevent fixed deformities and stretch weakness of overlengthened muscles. Similarly, the importance of skin inspection of insensate areas, use of pressure relief cushions, and sitting push-ups for pressure relief should be emphasized at an early age so that these preventive measures become routine. Daily monitoring of insensate areas can be taught at an early age by jointly inspecting the skin and verbalizing that there are no red areas. Body image can be promoted by playing games that involve touching and finding body parts. Habitual postural positions that contribute to deforming forces should be discouraged. It is essential to emphasize an upright posture when a child is learning to walk. If children are permitted to stand and walk in a crouched posture, habits become established and it is difficult to teach a more upright posture because of the development of secondary impairments (e.g., joint contractures and stretch weakness of excessively lengthened muscles). Therapists should closely observe joint alignment and posture when a child is standing. Postural deviations that look insignificant when a child is young are often magnified once body proportions increase.

School Age Typical Participation Restrictions: Causes and Implications Independence with ADLs often continues to be impaired in this age group. Children who are not independent with ADLs may miss out on normal childhood experiences (e.g., playtime or recess) while waiting for parents or teachers to assist them with basic skills. Their

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self-esteem may continue to be negatively affected if other children tease them regarding their dependency. Mobility limitations are magnified once a child begins school because of the increased community mobility distances and skills required. Advanced mobility skills are needed because of environmental barriers such as curbs, ramps, uneven terrain, and steps. Ineffective or inefficient community mobility can further reinforce dependent behaviors if other children carry his or her schoolbooks and lunch tray or push the wheelchair. The negative effects of limited mobility and physical limitations on socialization become more apparent at this age. Play and recreational opportunities are restricted if a child does not have an effective method of mobility. Often children with MM are excluded from recess or physical education class. Consequently, they miss out on opportunities for social interaction. Even if they are included in these activities, often their involvement is peripheral (e.g., serving as the score keeper during physical education class). Mobility limitations, dependency with ADLs, difficulties with toileting, and the difficulty of managing adaptive equipment often interfere with other aspects of peer interaction, such as going over to friends’ houses to play or spending the night with friends. Finally, it is important that parents and teachers be aware of perceptuomotor, visuoperceptual, and sensory deficits. The potential impact of these deficits on writing speed, legibility, and accuracy; the efficiency and effectiveness of performing ADL skills; problem solving; and cognitive abilities should be realized so that reasonable goals can be established and the use of appropriate adaptive equipment can be implemented. Multiple hospitalizations or medical complications can also negatively affect school performance.

Examination and Evaluation of Impairments and Activity Limitations As with younger children, joint alignment, strength, muscle imbalance, contractures, muscle extensibility, and posture should continue to be monitored. Other parameters that should be assessed include sensation, coordination, fine motor skills, ADLs, mobility, gait, body awareness, and functional skills.

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Reliable, sensitive, objective measures of strength can be obtained in school-age children.65 We recommend that objective methods of strength examination, such as handheld myometry, be used to serially monitor strength of individuals with MM who are old enough to cooperate (typically age 4 or older). Stationary isokinetic or strain gauge devices can also provide objective measures of strength, but these devices are not available in the typical clinic or school setting. Independence with ADLs should be assessed. In addition to the basic ADL skills evaluated in the Functional Activities Assessment, the school-age child’s ability to carry items and assist with basic household chores should be evaluated. The physical therapist also assesses the adequacy of clearance, duration, frequency, and reliability of performance of wheelchair push-ups. A nurse usually evaluates bowel and bladder function and the degree of continence. It is important that the physical therapist understand these and degree of independence with bowel and bladder function, however, because positioning, adaptive equipment, and mobility issues can often restrict independence with bowel and bladder intervention programs. The home, school, and community environments should be accessible so that individuals with MM can participate fully in all activities. The Americans with Disabilities Act of 1990 mandates access to all buildings, programs, and services used by the general public in the United States. Even partial exclusion from a school program can have lasting negative effects on a student’s social and emotional development.8 Providing accessibility to the entirety of school, home, and community activities lets individuals with MM know that they have the same opportunities and rights of access as everyone else. Limited access broadcasts a message of exclusion and estrangement. Both physical and social barriers to participation must be addressed. For a more thorough discussion of evaluating environmental accessibility in the school setting, see Baker and Rogosky-Grassi.8 Community accessibility should also be evaluated. Ideally, the patient should have access to the community school, church, grocery and drug stores, post office, bank, cleaners, stores and shopping malls, library, restaurants, theaters, sports arenas, hospital, physician’s office, work environment, and public

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transportation. Streets, sidewalks, crosswalks, and parking lots should also be accessible.

Ongoing Monitoring Joint alignment, muscle imbalance, contractures, posture, and signs of progressive neurologic dysfunction should continue to be monitored. As school-age children mature, they should become more responsible for daily inspection of insensate skin areas when they are bathing and dressing. Appropriate performance of pressure relief strategies should also be monitored. Areas of skin breakdown should be noted so that appropriate adjustments in equipment and preventive behaviors can be implemented or reviewed. School-age children should be observed closely during periods of rapid growth because they are at risk for loss of function as a result of cord tethering. Parents and teachers should be made aware of signs of progressive CNS complications so that they know when to refer the child to a primary care physician.

Typical Physical Therapy Goals and Strategies The stretching and strengthening strategies discussed for the two previous age groups also apply to the school-age child. Improving the flexibility of low back extensor, hip flexor, hamstring, and shoulder girdle musculature should be emphasized. When possible, stretching and strengthening exercises should also be incorporated into the physical education program. It is important that children with MM participate in physical education classes and sports activities in a meaningful way. As noted earlier, if children dependent on braces and crutches learn wheelchair skills and use at an early age, they will not be depressed and perceive wheelchair use as a failure when they arrive at adolescence. Proper positioning while sleeping and sitting should continue. In the classroom, seating should provide stability and symmetric alignment. Feet should be flat on the floor or on wheelchair footrests. The seat and desk height should be adjusted to fit the child’s body proportions. The desktop should be tilted up to improve neck and upper trunk alignment. Appropriate cushioning should be provided. The child’s chair should be positioned in the

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room so that the teacher and blackboard can easily be viewed while maintaining neutral alignment, without having to turn in the chair. If a child has not achieved independence with a given ADL task by the age at which 50% of the normative group achieved independence on the Functional Activities Assessment, the child’s performance should be assessed to determine if adaptive equipment is required or if further interventions are indicated. Goals for ADL performance should include efficiency in addition to independence. If the child is not as efficient as the primary caretaker, the caretaker will most likely perform the task. The target goal, therefore, is for the child to be able to perform the task as efficiently as the primary caretaker. Showing parents the ADL normative data for children with MM and promoting positive parental expectations of independence are beneficial (see Fig. 23.7). It is important for parents to positively reinforce the child’s attempts to be independent so that he or she is motivated to achieve. Pressure relief techniques should be incorporated into the daily routine. Joint protection measures should also be implemented early on to prevent the development of future degenerative changes. Once children with MM begin school, it is important that they have an independent, efficient, and effective means of mobility for home and long community distances. Alternative means of mobility may need to be considered for long distances to ensure that children with MM are able to keep up with their peers and still have energy left to attend to classroom activities. Various mobility options should be evaluated according to the criteria outlined in Box 23.2 to determine the most effective means of mobility for a given environment. Community-level wheelchair and ambulation skills should be taught, emphasizing efficiency and safety. Community, home, and school environments should be assessed to determine if there are architectural barriers that interfere with daily activities. It is essential for normal social development to permit accessibility to all school, home, and community activities, including recess, physical education, and field trips.8 A functional environment should be created at home and school by removing obstacles and adapting the environment to facilitate efficient and independent function. Adaptive equipment and

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effective mobility devices should be provided to maximize function. Community mobility skills may need to be practiced to facilitate independent function. Endurance training may also be indicated to ensure that the individual has sufficient endurance and efficiency to function effectively in all activities. Recreation and physical fitness are important for physical, psychological, and social reasons. Psychosocial benefits of participation in recreational activities include enhancing confidence and self-esteem, increasing socialization, improving group participation skills, providing a means of exercising in a more normal way, and increasing interest and motivation in maintaining flexibility, strengthening, and endurance. In contrast, perceived physical restrictions result in a sedentary lifestyle, potentially predisposing these individuals to problems with obesity and degenerative diseases. It is important to stimulate a lifelong interest in fitness and recreation. In addition, community resources, feasibility of transportation, and the family’s lifestyle must be taken into account. Recreation activities must be carefully selected to ensure that they are beneficial and feasible yet enjoyable so they will be continued on a regular basis. Ideally, recreation activities should incorporate forms of aerobic exercise along with socialization. It is important for individuals with MM to be involved in regular aerobic exercise to maintain their physical fitness and effectively control their weight. Recreational and physical fitness goals include maintaining and improving flexibility, strength, endurance, aerobic capacity, cardiovascular fitness, and coordination and controlling weight. Low-impact aerobics are preferred to minimize stress on joints. Aerobic exercise videos have been developed for individuals with disabilities. Swimming is an ideal sport for this population because they are often able to be competitive with their able-bodied peers and there is minimal stress on joints (www.brighthub.com/education/special/articles/44574.aspx). Other low-impact activities include cycling, rowing, cross-country skiing, roller and ice skating, and aerobic dance (www.cureourchildren.org/sports.htm).

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B O X 2 3 . 2 Feasibility

of Wheelchair and Biped

Ambulation: Criteria for Evaluation Household Distances Endurance Adequate to go between rooms in house? Adequate to get to yard and car?

Efficiency Record heart rate and calculate energy expenditure. Record normal and fast household walking speeds. Is fast pace adequate for emergency situations? Is normal pace practical for everyday activities?

Effectiveness Independent with all transfers? Able to carry, reach, lift, and climb? Able to perform activities of daily living? Able to go forward, backward, sideways, and turn?

Safety Has good stability and balance? Observes joint and skin protection? Able to maneuver around obstacles? Safe on smooth surfaces and rugs? Safe when turning?

Accessibility Maneuvers in and out of house independently? Necessary household rooms accessible? Emergency exit routes accessible?

Community Distances Endurance Sufficient at a functional speed for average community distances (e.g., going to school, store, medical appointments, and social activities)? Adequate for play and recreational activities (e.g., playground, park, beach, theater, sports arenas, sports participation)?

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Adequate for long-distance community distances (e.g., shopping mall, zoo, concert, sporting events, hiking)?

Efficiency Record heart rate and calculate energy expenditure. Record normal and fast walking paces. Adequate speed to cross intersections? Is typical pace practical for community distances?

Effectiveness Independent with all transfers? Able to maneuver in all directions? Able to climb and step over obstacles? Able to carry packages and groceries? Able to reach and lift items from shelves?

Safety Has good stability and balance? Observes joint and skin protection? Safe on wet or slippery surfaces? Able to maneuver around obstacles? Able to maneuver in congested areas? Safe on uneven terrain, curbs, inclines, and steps?

Accessibility Maneuvers in and out of car and bus independently? Necessary community buildings accessible? Verbal reinforcement or implementation of a token economy system to earn special privileges is preferred at this age to enhance cooperation with examination procedures and intervention programs. As mentioned above, food is not an appropriate form of reinforcement.

Prevention of Secondary Impairments and Activity Limitations Deficits that may appear insignificant during childhood often become magnified once an individual has adult body proportions, resulting in activity limitations and discomfort (e.g., low back pain resulting from an increased lumbar lordosis and hip flexion

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contractures). Joint protection is also important, beginning in early childhood. Joint trauma from excessive stress is cumulative over the life span. Children do not typically complain of pain, and children with MM may not be able to reliably detect pain in insensate areas. Consequently, sources of excess joint stress must be identified by carefully observing children while they perform ADLs and transfers, walk, and propel their wheelchair. Permitting school-age children to assume responsibility for daily skin inspection checks with supervision prepares them for independence in adolescence.151 One method of teaching careful skin inspection involves letting the child locate a small colored adhesive dot that is placed randomly on insensate skin. Children and their parents should be involved as much as possible in the decision-making process and intervention for their disability. The rationale for assistive devices and therapeutic interventions should be explained so that they agree with intervention plans and become knowledgeable regarding acquisition of medical care and services, rather than being passive recipients.

Adolescence and Transition to Adulthood Typical Participation Restrictions: Causes and Implications If normal stages for early childhood development have not been successfully accomplished, adolescence can present a crisis. The preparation of individuals with MM for a successful transition into adult life must be based on developmental concerns and timely issues from infancy through all stages of development to youngadult life.151 Adolescence brings expanded domains of travel for individuals with MM. School buildings become larger, with more environmental barriers for people with physical disabilities. To keep up with peers, community mobility must include mobility skills to travel long distances quickly and efficiently between classrooms, out to athletic fields as a participant or spectator, around shopping malls, and into crowded movie theaters, dances, and nightclubs. Independent adult living also requires mobility and balance skills that permit completion of advanced ADL tasks such

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as cooking, cleaning, clothes washing, shopping, yard work, house and equipment maintenance, driving, riding on public transportation, and going to work. Children who have gotten by with slow, inefficient ambulation skills using cumbersome adaptive equipment or who have had basic wheelchair mobility on level surfaces but suddenly cannot handle ramps, hills, curbs, and uneven ground find themselves lagging behind their peers. Nearly all of the adults in a study of 30 individuals with MM72 required referral to a physical therapist to address advanced mobility or equipment issues. It has been the observation of the authors that many adolescents and young adults do not have sufficient mobility skills to succeed independently in the community and must play catch-up to achieve their functional potential. The price paid for this delayed development of functional community mobility and lack of independence is social incompetence, dependence for advanced living skills, and unemployability, all of which must subsequently be addressed once mobility skills are improved. It is also important to train for competence and self-reliance. Blum and associates18 reported that young people with MM who perceived that they were overprotected had less happiness, lower self-esteem, higher anxiety, lower self-perceived popularity, and greater self-consciousness. Changes in functional mobility skills often occur concurrently with the rapid changes of adolescence. Individuals who have previously been ambulatory often become more reliant on a wheelchair. Dudgeon and associates45 reported that adolescents with MM often exhibit changes in ambulation that are not explained by progressive complications. They suggested that these changes reflect adaptation of mobility to new environmental and social demands that require different speed, accessibility, and energy demands than those encountered in childhood. If orthotic stabilization of the hip, knee, or both is required, it is unlikely that adolescents with MM will maintain community ambulation; instead, most become nonambulators.45 Brinker and associates23 reported a decline in the ability to walk in 11 of 35 adults with sacral level MM (19 to 51 years old). Of the 34 adults who were initially community ambulators, 5 had become household ambulators, 2 were nonfunctional ambulators, and 4 were nonambulators. The one adult who had been a household

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ambulator became a nonambulator. The most common reasons for their declining ambulatory status were foot ulcerations, infections, and amputations. Wheelchair transfer skills have also been observed to decline during the transition from adolescence to adulthood. In a study of 30 adults with MM who had thoracic through sacral level motor function, the mobility status for 43% had declined since previous examinations performed during adolescence.72 Several potential factors can play a role in this decreased function. Changes in body proportions and body composition occur throughout the growing years, but the rate of these changes is accelerated dramatically during adolescence.69 Increases in limb length affect the torque generated by muscles because of altered muscle length and resistance force moment arms. In addition, increases in height raise the location of the center of mass higher off the ground, making upright balance more difficult and energy expenditure greater to perform mobility tasks. Changes in body composition also alter the biomechanics of movement and affect performance. The relative percentage of force-generating muscle to fat and bone tissue changes the ratio of force-producing tissue to the load of the limbs. The development of obesity often occurs during adolescence and can further accentuate these changes. Banta10 stated that body mass increases by the cube or volume whereas strength increases only by the square or cross-sectional area. The inevitable result during the adolescent growth spurt is that walking efficiency declines as the energy demands increase. Furthermore, during the adolescent growth spurt, the rate of skeletal growth exceeds the increase in muscle mass; the latter catches up after skeletal growth slows in late adolescence. Decreased flexibility of the trunk and two-joint limb muscles is often observed as part of this process. Normal adolescents frequently become clumsy during this period of adjustment while learning how to coordinate their longer limb lengths and increased muscle mass. Adolescents with MM already have a mechanical disadvantage and are consequently more susceptible to dyscoordination and decreased flexibility. It is likely that these developmental changes contribute to the decline in mobility that often occurs in adolescents with MM.

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Progression of the neurologic deficit is another potential cause for decline in mobility function, and adolescents are particularly at risk during rapid periods of growth. Forty percent of the participants in our adult follow-up study72 had lower limb strength loss compared with previous strength examinations as adolescents. Twenty-seven percent had a reduction in lower limb sensory perception. The greatest motor and sensory losses occurred in the group with lesions at L5 and below—the individuals with the most function to lose. In addition, 10% of study participants demonstrated upper limb strength loss. Progressive neurologic loss, therefore, appears to be an important factor in the changes in mobility status of many individuals during the transition from adolescence to adulthood. Immobilization for intervention of secondary complications of MM can also contribute to decreased mobility skills. Decubiti, fractures, and orthopedic surgeries such as spinal fusions often require extended periods of immobilization with consequent disuse weakness, decreased endurance, and contracture development, all of which can decrease performance of mobility and transfer tasks. Prolonged periods of bed rest are often necessary to heal decubitus ulcers to avoid bearing weight on pressure areas. Adolescents often have an increased incidence of decubiti compared with younger children. This is due to their increased body mass causing greater pressure over bony prominences around the buttocks and because of the development of adult sweat patterns in these areas. Fifty-six percent of the adults evaluated in our study72 had a history of skin breakdown since their last examination as adolescents; nearly 17% had breakdown present at the time of the examination. An alarming number of these people had little insight into the causes or methods for preventing skin breakdown despite their previous care in a large multidisciplinary pediatric clinic. Even more disturbing was the fact that three individuals (10%) had sustained lower limb amputations since adolescence (two bilateral, one unilateral) as a result of nonhealing ulcers that had progressed to osteomyelitis. Clearly, functional mobility is affected by decubitus ulcers and especially by limb loss. Musculoskeletal problems can also affect the mobility of adolescents. Progression of spinal deformities often occurs during the growth spurt or in conjunction with one of the neurologic

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complications previously discussed. Sitting and standing balance can be affected by these spinal changes, leading to decreased mobility and transfer skills. Spinal orthoses prescribed to maintain optimal postural alignment also limit trunk ROM and hip flexion, interfering with wheelchair transfers and moving from sitting to standing. Surgical fusion of the spine to correct deformity and prevent its further progression can lead to immobilization with its consequent effects on mobility described earlier. Lower limb fractures secondary to osteoporosis can also necessitate immobilization with increased risk of functional loss. Adolescents often begin to develop degenerative changes of weight-bearing joints and overuse syndromes as a result of the excessive loading of these joints necessitated by their neurologic deficit. Joint pain, ligamentous instability, or tendinitis can further limit mobility capabilities. Fifty percent of the adult study participants72 complained of joint pain, and 100% had joint or spinal deformities noted at the time of their examination. Several other issues become important for the physical therapist to be cognizant of during adolescence. Independence with self-care and other daily activities is essential for normal socialization and for preparing individuals to lead normal adult lives. Bowel and bladder continence and independent intervention of bowel and bladder emptying are essential for social acceptance by peers and are even more critical at this stage because of the impact on dating, sexuality, higher education, employment, and independent living. Design and fit of wheelchair equipment, mobility aids, and orthoses affect independence with these tasks. Cosmesis is also a consideration with regard to equipment selection because body image and appearance become increasingly important issues during adolescence. Improper design or fit of equipment can significantly limit normal development in these areas.

Examination and Evaluation of Impairments and Activity Limitations Based on the discussion of participation restrictions and their causes, the physical therapist should assess several impairments. Emphasis of specific impairments should be based on the known or suspected concurrent medical problems.

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Joint ROM and muscle extensibility of two-joint muscles (especially hip and knee flexors) and trunk muscles should be assessed. Neck and low back motions are often restricted, particularly in adolescents and adults, because of muscle imbalance and poor postural habits. Joint swelling, ligamentous instability, crepitus, and pain with or without joint motion should be documented. If these conditions are progressive or severe enough to interfere with function, the patient should be referred to a physician for further evaluation and intervention. The distribution of degenerative joint changes should be noted with regard to performance of mobility tasks and obesity to determine the contribution of abnormal joint stresses to joint pain and dysfunction. Muscle strength should continue to be monitored for all major upper and lower limb muscle groups. When progressive neurologic dysfunction is suspected, coordination testing and serial grip strength measurements can also be helpful. Posture and trunk balance in sitting and standing (for ambulators) should be assessed. Real or apparent leg length discrepancy may be present in individuals with foot and ankle deformities, lower limb contractures, unilateral or bilateral hip dislocation, or pelvic obliquity related to spinal curves. Thorough examination of bed mobility, floor mobility, wheelchair mobility and transfers, and appropriateness and fit of wheelchair equipment is essential for wheelchair users. Endurance and effectiveness of mobility should be assessed to determine whether the individual’s current mode of mobility is practical for community-level function. Box 23.2 provides further detail regarding important areas to assess. When orthoses are needed to maintain proper alignment or to facilitate efficient ambulation, the physical therapist must assess their appropriateness and fit. Boxes 23.3 and 23.4 provide further information regarding lower limb orthoses used in this population.

Ongoing Monitoring Given the multitude of potential problems that can occur during adolescence and adulthood, comprehensive examinations should continue on at least a yearly basis, and potentially more frequently

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when problems are suspected or known to be present. Without regular reexamination, these individuals often fall through the cracks and endure permanent loss of function that was avoidable. An unfortunate example was one of the adult study participants with a diagnosis of lipomeningocele and a neurosegmental classification of “no loss” as an adolescent. His lesion level was reclassified at an L5 level at the time of our study. His loss of neurologic function was caused by a recurrent lipoma on his spine that went undetected and was not surgically removed until permanent neurologic loss had occurred. This individual thought that because his original lesion was removed as an infant with preservation of his spinal cord function, he had no risk of future problems; therefore he did not seek medical care until neurologic loss was irreversible. Early detection of progressive muscle strength loss, scoliosis, progression of spasticity, or contractures by the physical therapist with timely referral to a physician familiar with the potential complications associated with MM, along with aggressive physical therapy to reverse lost function (see section on prevention of secondary impairments and activity limitations), can prevent this scenario. This patient’s story underscores the need for all individuals with MM to be followed throughout life, even if there are seemingly no current problems or their lesion has been classified as “no loss” after surgical closure.

B O X 2 3 . 3 Indicators

for Lower Limb Orthoses

Foot Orthoses and Supramalleolar Orthoses Advantages Permits full active dorsiflexion and plantar flexion Maintains the subtalar joint in neutral alignment Provides medial and lateral ankle stability

Motor Function S1 to “no loss” Must have adequate toe clearance and sufficient gastrocnemius/soleus strength to provide adequate push-off and decelerate forward movement of tibia

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Indications Unequal weight distribution, resulting in skin breakdown, foot deformities, or abnormal shoe wear Medial and lateral ankle instability, resulting in balance problems, especially difficulty traversing uneven terrain Poor alignment of the subtalar joint, forefoot, or rearfoot

Ankle-Foot Orthoses (Standard AFOs and GroundReaction Force AFOs) Advantages In general, the ground-reaction force (see Fig. 23.6) is advantageous for this population. The proximal trim line can be extended medially to control genu valgus. The ground-reaction force AFO also facilitates push-off and knee extension during the stance phase and improves static standing balance. The ground-reaction force AFO has a patellar tendon-bearing design. This design distributes pressure across a broad area, preventing skin breakdown and lower leg deformities, which are common when traditional AFO anterior straps have been worn for an extended period of time. If traditional AFOs are used in this population, the anterior straps must be well padded.

Motor Function L4 to S1 Weak or absent ankle musculature Knee extensors at least grade 4

Indications Medial and lateral instability of knee or ankle Insufficient knee extension moment (ground-reaction force AFO) Lack of or ineffective push-off Inadequate toe clearance Crouched gait pattern

Knee-Ankle-Foot Orthoses Advantages If unable to maintain upright posture because of joint contractures or muscle weakness, or if the knee joints are unstable, KAFOs

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are indicated. If the knee joint is primarily required for medial and lateral stability so the knee joint is unlocked, or if there is potential to progress to ambulation with the knee joints unlocked, it is best to incorporate the ground-reaction force AFO component into the KAFO design to provide the advantages listed earlier in the AFO section.

Motor Function L3 to L4 Weak knee musculature Absent ankle musculature

Indications Medial and lateral instability of knee Weak quadriceps (grade 4 or less)

Reciprocating Gait Orthoses or Hip-Knee-Ankle-Foot Orthoses Advantages The reciprocating gait orthosis (RGO) cable system facilitates hip extension during stance phase and hip flexion during swing phase by coupling flexion of one hip with extension of the opposite hip. Release of both cables permits hip flexion when sitting. The RGO reduces the energy required for ambulation compared with walking with traditional KAFOs.

Motor Function L1 to L3 (some centers also advocate for thoracic level) Weak hip flexion is required to effectively operate the cables.

Indications Unable to maintain an upright posture with the hip joints extended RGO is indicated to facilitate hip extension and swing phase.

Thoracic-Hip-Knee-Ankle-Foot Orthoses, Parapodiums, or Verlos

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Advantages Upright positioning for high-level lesions Generally for exercise walking only

Motor Function Thoracic to L2. Walking is usually nonfunctional for these highlevel lesions because of the high energy expenditure required and the slow, cumbersome walking pace.

Indications Limited distance mobility Upright positioning “Exercise” walking

B O X 2 3 . 4 Lower

Limb Orthotic Specifications,

Objectives, and Examination Criteria Orthotic Specifications Shoe Heel Height A low heel (¼ to ½ inch) may improve balance by shifting the center of gravity forward in a person with a calcaneal weightbearing position. A low heel (¼ to ½ inch) may decrease knee hyperextension by shifting the center of gravity forward. A high heel shifts the center of gravity too far forward and causes balance problems in a person with weak plantar flexors. A high heel may result in increased hip and knee flexion, combined with an increased lordosis or swayback posture.

Ankle Angle Ideally molded or set in 5° plantar flexion with a rigid anterior and posterior stop to reduce energy requirements and to increase the knee extension moment as long as toe clearance is adequate and the knee does not hyperextend. If foot clearance is a problem, set angle more acutely, no higher than neutral, at the minimum angle required to clear the foot during swing phase. Plastic orthoses must enclose the malleoli to effectively

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resist dorsiflexion and provide a rigid anterior stop.100 Do not set ankle angle more acutely than a neutral angle unless trying to control a knee hyperextension problem because the energy expenditure will increase.

Keel Generally, keel should be rigid to the distal aspect of the metatarsal heads (to decrease energy expenditure by providing a longer lever). The plastic should extend to the end of the toes to maintain proper toe alignment, but it must be pulled thin distal to the metatarsal heads to provide a flexible toe break. If a flexible toe break is not provided, the knee extension moment may be excessive, resulting in knee hyperextension. The alternative is to trim the plastic at the metatarsal heads, but the toes are not adequately supported in this latter case. Extending a rigid keel out to the end of the toes may be indicated to increase the extension moment at the knee. Do not extend the rigid lever arm to the end of the toes if it results in knee hyperextension or difficulty with balance (especially on stairs).

Plantar Aspect Posting may be required to accommodate the hindfoot and rearfoot position so that the subtalar joint is maintained in a neutral position, yet a plantigrade position is achieved.200 Posting helps distribute the weight across the plantar aspect and prevents varus or valgus.

Straps All straps should be well padded. An instep strap angled at 45° helps hold the heel in place and prevents pistoning and friction. KAFOs should have a three-point pressure distribution. A combined suprapatellar and infrapatellar strap distributes the pressure best. A spider kneecap pad can also be used but results in greater shear forces through the knee joint. An infrapatellar strap often deforms the lower leg when worn for a prolonged period of time because the pressure is not well distributed. The patellar tendon-bearing orthotic trim line is preferred in this population because the pressure is better

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distributed.

Orthotic Fabrication Objectives Increase Medial and Lateral Stability Mold in subtalar neutral position.93,200 Proximal trim line should be sufficiently proximal and anterior to provide adequate leverage to control the ankle and to distribute pressure evenly. Increase base of support and equalize weight-bearing forces by means of external posting.

Valgus or Pronated Foot Post medially under first metatarsal head and medial aspect of calcaneus. Flare posting medially to increase the base of support and to prevent deviation into valgus.

Varus or Supinated Foot Post medially under first metatarsal head to accommodate supinated position of forefoot and equalize pressure distribution. Zero posting under calcaneus (with lateral flare if needed) to prevent deviation into supination at heel strike. Orthoses must sit level in shoes, and the shoes should be fastened securely so they do not slide on orthoses.

Decrease Energy Expenditure Ankle angle ideally molded or set at 5° plantar flexion with rigid anterior stop (see ankle angle, earlier). Distal trim line at metatarsal heads to provide a long rigid lever arm. Provide adequate toe clearance and simulate push-off. Plantar flexion stop, ideally set at 5° of plantar flexion if able to adequately clear toe without increasing knee flexion during swing phase (see ankle angle, earlier). Generally a rigid dorsiflexion stop is required unless the patient has sufficient plantar flexor strength to control forward movement of tibia during stance phase.

Increase Knee Extension Moment

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Ground-reaction force, patellar tendon-bearing orthosis. Solid ankle, cushioned heel, or wedge heel anteriorly to move ground-reaction force forward at heel strike. Rigid dorsiflexion stop set in 5° plantar flexion (see ankle angle, earlier). Keel rigid to distal aspect of metatarsal heads to provide a long rigid lever and yet still permit a flexible toe break (see keel, earlier). An even greater extension moment can be provided by extending the rigid lever to the end of the toes. This is usually contraindicated, however, because it results in difficulties with balance (especially on stairs).

Prevent Knee Hyperextension Prevent knee hyperextension by increasing knee flexion moment. Flare heel posteriorly to move ground-reaction force behind knee joint axis at heel strike to produce a flexion moment. Ankle set at neutral angle with rigid dorsiflexion and plantar flexion stop (if this does not adequately prevent knee hyperextension, the angle may need to be set more acutely, into dorsiflexion). The more acute the angle, however, the greater the energy expenditure.93 A low heel (¼ to ½ inch) may decrease knee hyperextension by shifting the center of gravity forward. Keel rigid to the distal aspect of the metatarsal heads to provide a long rigid lever to decrease energy expenditure. Plastic must be pulled thin beyond this point, however, to provide a flexible toe break (do not extend the rigid keel to the end of the toes because this will increase the knee extension moment at pushoff). If knee hyperextension cannot be adequately controlled with previously described modifications, use KAFOs with knee extension stops.

Improve Pressure Distribution Use total contact orthoses. All straps should be well padded. Bony prominences should be padded (e.g., malleoli, prominent naviculi, patellar tendon region). Posting to equalize pressure distribution on foot and minimize

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pressure on malleoli and naviculi. Patellar tendon-bearing orthosis distributes pressure better than a proximal strap. KAFOs: the combination of a suprapatellar and infrapatellar strap distributes pressure most effectively.

Improve Balance Adding a low heel (¼ to ½ inch) may improve balance by shifting the center of gravity forward in a person with a calcaneal weight-bearing position. A high heel shifts the center of gravity too far forward and causes balance problems, particularly in a person with weak or absent plantar flexors.

Orthotic Examination Criteria Check for pressure areas. Heel must seat well in orthosis. Check for rigid keel and flexible toe break. Check knee alignment and congruency of knee joint axis. All straps and bony prominences should be well padded. Check medial and lateral alignment, and make sure the orthosis is posted properly with subtalar joint in neutral. Check angle at ankle (anterior/posterior and medial/lateral). Check anterior and posterior stops to make sure they adequately control motion, facilitate push-off, and permit toe clearance during swing phase. Insert orthosis in shoe to check alignment. If molded properly, the orthosis should be able to balance and stand without support on a flat surface.

Typical Physical Therapy Goals and Strategies Functional goals for adolescents and adults are based on a number of factors that have been discussed in preceding sections of this chapter. The section on outcomes and their determinants provides guidelines for outcome expectations based on neurologic system function. In general, the goal for all but the most severely involved patients is to achieve independent basic and community mobility skills. The physical therapist must, therefore, be aware of all

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environments, distances, and barriers the individual is required to negotiate to adequately prepare the patient for all eventualities. Instruction in advanced community skills, along with endurance training, is often indicated. Physical and occupational therapists often need to be involved with driver’s education programs and with the provision of adaptive equipment required for driving. Goodwyn56 expanded the Functional Activities Assessment format to include adolescent skills required for independent living. The items were selected from existing adult-oriented skill achievement tests, and normative data were studied in this population. The Assessment of Motor and Process Skills (AMPS) was also studied in a group of individuals ranging in age from 6 to 73 years old (mean = 21.3 years) and was found to be a valid assessment of ADL performance.94 The AMPS assesses motor and process skills in terms of efficiency, effort, safety, and level of independence. The Kohlman Evaluation of Living Skills122 is also a useful screening tool for determining independence with adult living skills such as self-care, safety, health maintenance, money management, transportation, telephone use, and work and leisure activities. For adolescents and adults, the ability to lift and carry items such as a hot dish, grocery bags, a laundry basket, and heavy household items is also important to assess. It is particularly important to observe safety issues and the use of proper body mechanics for advanced living skills. In addition, the maximum carrying distance should be determined and contrasted with functional demands. If independence and effectiveness with ADLs are limited, appropriate adaptations and interventions should be made to foster independence. Environmental adaptations or assistive devices required to perform functional tasks should be determined and specifically selected for application to social, educational, vocational, and work capacity requirements of the adolescent and adult. Vocational counseling and planning should begin early during the high school years. A social worker may need to assist the family with the transition to independent living because a mutually dependent relationship is often fostered by the intense lifelong involvement of parents and siblings in assisting the individual with MM. Recreation therapy may be used to assist with shopping for and purchasing personal items, use of public

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transportation, and developing appropriate adult leisure activities. Occupational therapy is useful to address advanced living skills such as cooking, cleaning, laundry, money management, and driver’s training for appropriate candidates. A social worker can assist with locating accessible housing and obtaining appropriate support services for physical tasks that are too difficult for the patient. Depending on the practice setting, however, it may be necessary for the physical therapist to manage these areas. The expectation for individuals with MM who have intelligence in the normal range and sufficient motor function to care for themselves is the ability to thrive as an independent adult in our society. See Chapter 32 for more information on transition to adulthood.

Prevention of Secondary Impairments and Activity Limitations The physical therapist plays an important role in anticipating the potential for functional loss when one of the medical complications of MM previously described increases the risk of secondary impairments. For example, when an adolescent undergoes a surgical procedure that requires extended bed rest, maintenance of muscle extensibility, joint ROM, and strength at the bedside followed by resumption of physical mobility tasks as soon as possible postoperatively can prevent long-term or permanent decline in mobility skills. Unfortunately, care providers are often not aware of these issues, and intervention is not instituted until it is too late to recover lost function. The physical therapist must serve as an advocate for the patient under these circumstances. Regular skin inspection continues to be important to monitor skin integrity. Another mechanism for preventing secondary impairments is education of patients and their parents regarding the fit, specifications, condition, and maintenance of their adaptive equipment. They should know how to monitor skin tolerance and the fit of adaptive equipment. They should also understand the rationale for equipment and design features that are recommended. Knowledgeable consumers can detect and report potential problems before they result in complications such as decubiti. They need to be aware of the potential consequences of poorly fitted equipment so that they can advocate for quality equipment. The

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majority of adults in our follow-up study had improperly fitted equipment or lacked equipment that was essential for optimal function. These adults were also unaware of proper equipment maintenance techniques.72 As a result, many of them were functioning well below their capabilities and had skin breakdown, back pain, or joint pain as a result of poorly fitted orthoses or improper wheelchair design and seating.

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References 1. Adzick N. Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg. 2013;22:10–17. 2. Agre J.C, Findley T.W, McNally M.C, et al. Physical activity capacity in children with myelomeningocele. Arch Phys Med Rehabil. 1987;68:372–377. 3. Aitkens S, Lord J, Bernauer E, et al. Relationship of manual muscle testing to objective strength measurements. Muscle Nerve. 1989;12:173–177. 4. Andersen E.M, Plewis I. Impairment of motor skill in children with spina bifida cystica and hydrocephalus: an exploratory study. Br J Psychol. 1977;68:61–70. 5. Andersson C, Mattsson E. Adults with cerebral palsy: a survey describing problems, needs, and resources, with special emphasis on locomotion. Dev Med Child Neurol. 2001;43:76–82. 6. Asher M, Olson J. Factors affecting the ambulatory status of patients with spina bifida cystica. J Bone Joint Surg Am. 1983;65:350–356. 7. Babcook C.J. Ultrasound evaluation of prenatal and neonatal spina bifida. Neurosurg Clin North Am. 1995;6:203– 218. 8. Baker S.B, Rogosky-Grassi M.A. Access to the school. In Kelly FL, Reigel DH. In: Teaching the student with spina bifida. Baltimore: Paul H. Brookes; 1992:31–70. 9. Bannister C.M. The case for and against intrauterine surgery for myelomeningocele. Eur J Obst Gynecol Reproduct Biol. 2000;92:109–113. 10. Banta J.V. Bracing for ambulation: basic principles, brace alternatives by motor level and predictive long-term goals. In: Matsumoto S, Sato H, eds. Spina bifida. New York: Springer Verlag; 1999:307–311. 11. Banta J, Hamada J. Natural history of the kyphotic deformity in myelomeningocele. J Bone Joint Surg. 1976;58A:279. 12. Bar-Or O. Pathophysiological factors which limit the exercise capacity of the sick child. Med Sci Sports

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Exerc. 1986;18:276–282. 13. Bartlett M.D, Wolf L.S, Shurtleff D.B, Staheli L.T. Hip flexion contractures: a comparison of measurement methods. Arch Phys Med Rehabil. 1985;66:620–625. 14. Bauer S.B. Neurogenic bladder: etiology and assessment. Pediatr Nephrol. 2008;23:541–551. 15. Becker R.D. Recent developments in child psychiatry: I. The restrictive emotional and cognitive environment reconsidered: a redefinition of the concept of therapeutic restraint. Isr Ann Psychiatr Relat Discip. 1975;12:239–258. 16. Berry R.J, Li Z, Erickson J.D, et al. Prevention of neural-tube defects with folic acid in China. New Engl J Med. 1999;341:1485–1491. 17. Birth Defects and Genetic Diseases Branch of Birth Defects and Developmental Disabilities Office, . National Center for Environmental Disease and Injury: use of folic acid prevention of spina bifida and other neural tube defects, 1983-1991. MMWR Morb Mortal Wkly Rep. 1991;40:1–4. 18. Bleck E.E, Nagel D.A. Physically handicapped children: a medical atlas for teachers. Orlando, FL: Grune Stratton; 1982. 19. Reference deleted in proofs. 20. Bohannon R.W. Manual muscle test scores and dynamometer test scores of knee extension strength. Arch Phys Med Rehabil. 1986;67:390–392. . 21. Bower E, ed. Finnie’s handling the young child with cerebral palsy at home. Burlington, MA: ButterworthHeinemann; 2009. 22. Brazelton T.B. Touchpoints: your child’s emotional and behavioral development. Reading, MA: Perseus Books; 1992. 23. Brinker M, Rosenfeld S, Feiwell E, et al. Myelomeningocele at the sacral level: long-term outcomes in adults. J Bone Joint Surg. 1994;76A:1293–1300. 24. Broughton N.S, Graham G, Menelaus M.B. The high incidence of foot deformity in patients with high-level spina bifida. J Bone Joint Surg. 1994;76B:548–550. 25. Brown J.P. Orthopedic care of children with spina bifida: you’ve come a long way, baby!. Orthop Nurs. 2001;20:51–58. 26. Brunt D. Characteristics of upper limb movements in a

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sample of meningomyelocele children. Percept Mot Skills. 1980;51:431–437. 27. Butler C, Okamoto G.A, McKay T.M. Motorized wheelchair driving by disabled children. Arch Phys Med Rehabil. 1984;65:95–97. 28. Chaffin D.B, Andersson G.B.J, Martin B.J. Occupational biomechanics. ed 3. New York: John Wiley Sons; 1999. 29. Chandler L.S, Andrews M.S, Swanson M.W. Movement assessment of infants: a manual. Rolling Bay, WA: Authors; 1980. 30. Coster W, Deeney T.A, Haltiwanger J.T, Haley S.M. School function assessment. Boston: Boston University; 1998. 31. Culatta B, Young C. Linguistic performance as a function of abstract task demands in children with spina bifida. Dev Med Child Neurol. 1992;34(5):434–440. 32. Cusick B.D, Stuberg W.A. Assessment of lower extremity alignment in the transverse plane: implications for management of children with neuromotor dysfunction. Phys Ther. 1992;72:3–15. 33. Czeizel A.E, Dudas I. Prevention of first occurrence of neural tube defects by periconceptual vitamin supplementation. New Engl J Med. 1992;327:131–137. 34. D’Addario V, Rossi A.C, Pinto V, et al. Comparison of six sonographic signs in the prenatal diagnosis of spina bifida. J Perinat Med. 2008;36(4):330–334. 35. De Villarreal L.M, Perez J.Z, Vasquez P.A, et al. Decline of neural tube defects after a folic acid campaign in Neuvo Leon, Mexico. Teratology. 2002;66:249–256. 36. Deitz J.C, Jaffe K.M, Wolf L.S, et al. Pediatric power wheelchairs: evaluation of function in the home and school environments. Assist Technol. 1991;3:24–31. 37. Del Gado R, Del Gaizo D, Brescia D, et al. Obesity and overweight in a group of patients with myelomeningocele. In: Matsumoto S, Sato H, eds. Spina bifida. New York: Springer Verlag; 1999:474–475. 38. Dennis M, Barnes M.A. The cognitive phenotype of spina bifida meningomyelocele. Dev Disabil Res Rev. 2010;16(1):31–39.

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39. DeSouza L, Carroll N. Ambulation of the braced myelomeningocele patient. J Bone Joint Surg Am. 1976;58:1112–1118. 40. Dias L. Management of ankle and hindfoot valgus in spina bifida. In: Matsumoto S, Sato H, eds. Spina bifida. New York: Springer Verlag; 1999:374–377. 41. Dias L. The management of hip pathology in spina bifida. In: Matsumoto S S, Sato H H, eds. Spina bifida. New York: Springer Verlag; 1999:321–322. 42. Diaz Llopis I, Bea Munoz M, Martinez Agullo E, et al. Ambulation in patients with myelomeningocele: a study of 1500 patients. Paraplegia. 1993;31:28–32. 43. Dise J.E, Lohr M.E. Examination of deficits in conceptual reasoning abilities associated with spina bifida. Am J Phys Med Rehabil. 1998;77:247–251. 44. Dosa N.P, Eckrich M, Katz D.A, et al. Incidence, prevalence, and characteristics of fractures in children, adolescents, and adults with spina bifida. J Spinal Cord Med. 2007;30(Suppl 1):S5–S9. 45. Dudgeon B.J, Jaffe K.M, Shurtleff D.B. Variations in midlumbar myelomeningocele: implications for ambulation. Pediatr Phys Ther. 1991;3:57–62. 46. Eastlack M.E, Arvidson J, Snyder-Mackler L, et al. Interrater reliability of videotaped observational gait-analysis assessments. Phys Ther. 1991;71:465–472. 47. Effgen S.K, Brown D.A. Long-term stability of hand-held dynamometric measurements in children who have myelomeningocele. Phys Ther. 1992;72:458–465. 48. Embrey D, Endicott J, Glenn T, Jaeger D.L. Developing better postural tone in grade school children. Clinical Management in Phys Ther. 1983;3:6–10. 49. Fay G, Shurtleff D.B, Shurtleff H, Wolf L. Approaches to facilitate independent self-care and academic success. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:373–398. 50. Fife S.E, Roxborough L.A, Armstrong R.W, et al. Development of a clinical measure of postural control for

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assessment of adaptive seating in children with neuromotor disabilities. Phys Ther. 1991;71:981–993. 51. Florence J.M, Pandya S, King W, et al. Strength assessment: comparison of methods in children with Duchenne muscular dystrophy (Abstract). Phys Ther. 1988;68:866. 52. Frawley P.A, Broughton N.S, Menelaus M.B. Incidence and type of hindfoot deformities in patients with low-level spina bifida. J Pediatr Orthop. 1998;18:312–313. 53. Frimberger D, Cheng E, Kropp B.P. The current management of the neurogenic bladder in children with spina bifida. Pediatr Clin North Am. 2012;59(4):757–767. 54. Gadow K. Children on medication. San Diego, CA: College Hill Press; 1986. 55. Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5:279–290. 56. Goodwyn M.A. Biomedical psychological factors predicting success with activities of daily living and academic pursuits. Unpublished doctoral dissertation. Seattle: University of Washington; 1990. 57. Griebel M.L, Oakes W.J, Worley G. The Chiari malformation associated with myelomeningocele. In: Rekate H.L, ed. Comprehensive management of spina bifida. Boca Raton, FL: CRC Press; 1991:67–92. 58. Griffin J.W, McClure M.H, Bertorini T.E. Sequential isokinetic and manual muscle testing in patients with neuromuscular disease: pilot study. Phys Ther. 1986;66:32– 35. 59. Gucciardi E, Pietrusiak M.A, Reynolds D.L, Rouleau J. Incidence of neural tube defects in Ontario, 19861999. CMAJ. 2002;167:237–240. 60. Hack S.N, Norton B.J, Zahalak G.I. A quantitative muscle tester for clinical use (Abstract). Phys Ther. 1981;61:673. 61. Hamill P.V, Drizd T.A, Johnson C.L, et al. Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutr. 1979;32:607–629. 62. Harms-Ringdahl K. Muscle strength. Edinburgh: Churchill

1916

Livingstone; 1993. 63. Harris S.R, Megans A.M, Daniels L.E. Harris Infant Neuromotor Test (HINT) Test User’s Manual Version 1.0 Clinical Edition. Chicago, IL: Infant Motor Performance Scales, LLC; 2010:2009. 64. Hatlen T, Song K, Shurtleff D, Duguay S. Contributory factors to postoperative spinal fusion complications for children with myelomeningocele. Spine. 2010;35:1294–1299. 65. Hinderer K.A. Reliability of the myometer in muscle testing children and adolescents with myelodysplasia Unpublished master’s thesis. Seattle: University of Washington; 1988. 66. Hinderer K.A. The relationship between musculoskeletal system capacity and task requirements in simulated crouch standing Doctoral dissertation. Ann Arbor, MI: University of Michigan; 2003. 67. Hinderer K.A, Gutierrez T. Myometry measurements of children using isometric and eccentric methods of muscle testing (Abstract). Phys Ther. 1988;68:817. 68. Hinderer K.A, Hinderer S.R. Mobility and transfer efficiency of adults with myelodysplasia (Abstract). Arch Phys Med Rehabil. 1988;69:712. 69. Hinderer K.A, Hinderer S.R. Muscle strength development and assessment in children and adolescents. In: HarmsRingdahl K K, ed. International perspectives in physical therapy: muscle strength. Vol. 8. London: Churchill Livingstone; 1993:93–140. 70. Hinderer S.R, Hinderer K.A. Sensory examination of individuals with myelodysplasia (Abstract). Arch Phys Med Rehabil. 1990;71:769–770. 71. Hinderer S.R, Hinderer K.A. Principles and applications of measurement. In: Frontera W.R, ed. DeLisa’s Rehabilitation medicine: principles and practices. ed 5. Philadelphia: Lippincott-Williams Wilkins; 2010:221– 242. . 72. Hinderer S.R, Hinderer K.A, Dunne K, Shurtleff D.B. Medical and functional status of adults with spina bifida (Abstract). Dev Med Child Neurol. 1988;30(Suppl 57):28.

1917

73. Hislop H.J, Montgomery J. Daniels and Worthingham’s muscle testing. ed 7. Philadelphia: WB Saunders; 2002. 74. Hosking G.P, Bhat U.S, Dubowitz V, Edwards R.H.T. Measurements of muscle strength and performance in children with normal and diseased muscle. Arch Dis Child. 1976;51:957– 963. 75. Hunt G.M. Open spina bifida: outcome for complete cohort treated unselectively and followed into adulthood. Dev Med Child Neurol. 1990;32:108–118. 76. Hunt G.M, Oakeshott P, Kerry S. Link between the CSF shunt and achievement in adults with spina bifida. J Neurol Nerosurg Psychiatry. 1999;67:591–595. 77. Hunt G, Oakeshott P. Outcome in people with open spina bifida at age 35: prospective community based cohort study. Br Med J. 2003;326:1365–1366. 78. Hurley A.D. Conducting psychological assessments. In: Rowley-Kelly F.L, Reigel D.H, eds. Teaching the student with spina bifida. Baltimore: Paul H. Brookes; 1992:107–124. 79. Hyde S, Goddard C, Scott O. The myometer: the development of a clinical tool. Physiotherapy. 1983;69:424– 427. 80. IMSG: International Myelodysplasia Study Group Database Coordination, . Department of Pediatrics. Seattle: University of Washington; 1993. 81. Reference deleted in proofs. 82. Janda V. Muscle function testing. Boston: Butterworths; 1983. 83. Jebsen R.H, Trieschman R.B, Mikulic M.A, et al. Measurement of time in a standardized test of patient mobility. Arch Phys Med Rehabil. 1970;51:170–175. 84. Johnson C, Honein M.A, Dana Flanders W, et al. Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: a systematic review of the literature. Birth Defects Res A Clin Mol Teratol. 2012;94:857–863. 85. Karmel-Ross K, Cooperman D.R, Van Doren C.L. The effect of electrical stimulation on quadriceps femoris muscle torque in children with spina bifida. Phys Ther. 1992;72:723–

1918

731. 86. Karol L. Orthopedic management in myelomeningocele. Neurosurg Clin North Am. 1995;6:259– 268. 87. Kelly N.C, Ammerman R.T, Rausch J.R, et al. Executive functioning and psychological adjustment in children and youth with spina bifida. Child Neuropsychol. 2012;18(5):417– 431. 88. Kendall F.P, McCreary E.K, Provance P.G. Muscles: testing and function. ed 4. Baltimore: Williams Wilkins; 1999. 89. Reference deleted in proofs. 90. Kilburn J, Saffer A, Barnes L, et al. The Vigorimeter as an early predictor of central neurologic malformation in myelodysplastic children. Seattle: Paper presented at the meeting of the American Academy for Cerebral Palsy and Developmental Medicine; 1985. 91. Kimura D.K, Mayo M, Shurtleff D.B. Urinary tract management. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:243–266. 92. King J.C, Currie D.M, Wright E. Bowel training in spina bifida: importance of education, patient compliance, age, and anal reflexes. Arch Phys Med Rehabil. 1994;75:243–247. 93. Knutson L.M, Clark D.E. Orthotic devices for ambulation in children with cerebral palsy and myelomeningocele. Phys Ther. 1991;71:947–960. 94. Kottorp A, Bernspang B, Fisher A.G. Validity of a performance assessment of activities of daily living for people with developmental disabilities. J Intellect Disabil Res. 2003;47(8):597–605. 95. Krebs D.E, Edelstein J.E, Fishman S. Reliability of observational kinematic gait analysis. Phys Ther. 1985;65:1027–1033. 96. Lais A, Kasabian N.G, Dryo F.M, et al. The neurosurgical implications of continuous neurological surveillance of children with myelodysplasia. J Urol. 1993;150:1879–1883. 97. Land L.C. Study of the sensory integration of children with myelomeningocele. In: McLaurin R.L, ed. Myelomeningocele. Orlando,

1919

FL: Grune Stratton; 1977:115–140. 98. Lehmann J.F, Condon S.M, de Lateur B.J, Price R. Gait abnormalities in peroneal nerve paralysis and their corrections by orthoses: a biomechanical study. Arch Phys Med Rehabil. 1986;67:380–386. 99. Reference deleted in proofs. 100. Lehmann J.F, Esselman P.C, Ko M.J, et al. Plastic ankle-foot orthoses: evaluation of function. Arch Phys Med Rehabil. 1983;64:402–404. 101. Lemire R.J, Loeser J.D, Leech R.W, Alvord E.D, eds. Normal and abnormal development of the human nervous system. Hagerstown, MD: Harper Row; 1975. 102. Level M.B. Spherical grip strength of children Unpublished master’s thesis. Seattle: University of Washington; 1984. 103. Liptak G.S, Shurtleff D.B, Bloss J.W, et al. Mobility aids for children with high-level myelomeningocele: parapodium versus wheelchair. Dev Med Child Neurol. 1992;34:787–796. 104. Liusuwan R.A, Widman L.M, Abresch R.T, et al. Behavioral intervention, exercise, and nutrition education to improve health and fitness (BENEfit) in adolescents with mobility impairment due to spinal cord dysfunction. J Spinal Cord Med. 2007;30:S119–S126. 105. Liusuwan R.A, Widman L.M, Abresch R.T, et al. Body composition and resting energy expenditure in patients aged 11 to 21 years with spinal cord dysfunction compared to controls: comparisons and relationships among the groups. J Spinal Cord Med. 2007;30:S105–S111. 106. Logan L, Byers-Hinkley K, Ciccone C.D. Anterior versus posterior walkers: a gait analysis study. Dev Med Child Neurol. 1990;32:1044–1048. 107. Lollar D. Preventing secondary conditions associated with spina bifida or cerebral palsy. Proceedings and Recommendations of a Symposium (pp. 54–64. Washington, DC: Spina Bifida Association of America; 1994. 108. Luthy D.A, Wardinsky T, Shurtleff D.B, et al. Cesarean section before the onset of labor and subsequent motor function in infants with myelomeningocele diagnosed antenatally. New Engl J Med. 1991;324:662–666.

1920

109. Lutkenhoff M, Oppenheimer S. Spinabilities: a young person’s guide to spina bifida. Bethesda, MD: Woodbine House; 1997. 110. Lynch A, Ryu J, Agrawal S, Galloway J.C. Power mobility training for a 7-month old infant with spina bifida. Pediatr Phys Ther. 2009;21:362–368. 111. Main D.M, Mennuti M.T. Neural tube defects: issues in prenatal diagnosis and counseling. Obstet Gynecol. 1986;67:1–16. 112. Marreiros H, Loff C, Calado E. Osteoporosis in paediatric patients with spina bifida. J Spinal Cord Med. 2012;35(1):9– 21. 113. Marreiros H, Monteiro L, Loff C, et al. Fractures in children and adolescents with spina bifida: the experience of a Portuguese tertiary-care hospital. Dev Med Child Neurol. 2010;52(8):754–759. 114. Masse L.C, Lamontagne M, O’Riain M.D. Biomedical analysis of wheelchair propulsion for various seating positions. J Rehabil Res Dev. 1992;29:12–28. 115. Mayfield J.K. Comprehensive orthopedic management in myelomeningocele. In: Rekate H.L, ed. Comprehensive management of spina bifida. Boca Raton, FL: CRC Press; 1991:113–164. 116. Maynard J, Weiner J, Burke S. Neuropathic foot ulceration in patients with myelodysplasia. J Pediatr Orthop. 1992;12:786–788. 117. Mazur J.M, Menelaus M.B. Neurologic status of spina bifida patients and the orthopedic surgeon. Clin Orthop Rel Res. 1991;264:54–63. 118. McDonald C.M, Jaffe K.M, Mosca V.S, Shurtleff D.B. Ambulatory outcome of children with myelomeningocele: effect of lower-extremity muscle strength. Dev Med Child Neurol. 1991;33:482–490. 119. McDonald C.M, Jaffe K.M, Shurtleff D.B, Menelaus M.B. Modifications to the traditional description of neurosegmental innervation in myelomeningocele. Dev Med Child Neurol. 1991;33:473– 481.

1921

120. McDonald C.M, Jaffe K, Shurtleff D.B. Assessment of muscle strength in children with meningomyelocele: accuracy and stability of measurements over time. Arch Phys Med Rehabil. 1986;67:855–861. 121. McDonnell G.V, McCann J.P. Link between the CSF shunt and achievement in adults with spina bifida. J Neurol Neurosurg Psychiatry. 2000;68:800. 122. McGourty L.K. Kohlman Evaluation of Living Skills (KELS). In: Hemphill B.J, ed. Mental health assessment in occupational therapy. Thorofare, NJ: Black; 1988:131–146. 123. Mendell J.R, Florence J. Manual muscle testing. Muscle Nerve. 1990;13(Suppl):16–20. . 124. Menelaus M.B. Orthopedic management of children with myelomeningocele: a plea for realistic goals. Dev Med Child Neurol. 1976;18(Suppl 37):3–11. 125. Menelaus M.D. The hip: current treatment. In: Matsumoto S, Sato H, eds. Spina bifida. New York: Springer Verlag; 1999:338–340. 126. Miller E, Sethi L. The effect of hydrocephalus on perception. Dev Med Child Neurol. 1971;13(Suppl 25):77–81. 127. Miller L.C, Michael A.F, Baxter T.L, Kim Y. Quantitative muscle testing in childhood dermatomyositis. Arch Phys Med Rehabil. 1988;69:610–613. 128. Mills J.L, Rhoads G.G, Simpson J.L, et al. The absence of a relation between the periconceptual use of vitamins and neural tube defects. New Engl J Med. 1989;321:430–435. 129. Milner-Brown H.S, Miller R.G. Increased muscular fatigue in patients with neurogenic muscle weakness: quantification and pathophysiology. Arch Phys Med Rehabil. 1989;70:361–366. 130. Milunsky A, Jick H, Jick S.S, et al. Multivitamin/folic acid supplementation in early pregnancy reduces the prevalence of neural tube defects. JAMA. 1989;262:2847–2852. 131. Mintz L, Sarwark J, Dias L, Schafer M. The natural history of congenital kyphosis in myelomeningocele. Spine. 1991;16(Suppl 5):348–350. 132. Mitchell L. Epidemiology of neural tube defects. Am J Med Genet C Semin Med Genet. 2005;135C:88–94.

1922

133. Mobley C, Harless L, Miller K. Self perceptions of preschool children with spina bifida. J Pediatr Nurs. 1996;1:217–224. 134. MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council vitamin study. Lancet. 1991;338:131–137. 135. Murdoch A. How valuable is muscle charting? A study of the relationship between neonatal assessment of muscle power and later mobility in children with spina bifida defects. Physiotherapy. 1980;66:221–223. 136. Murphy K.P, Molnar G.E, Lankasky K. Medical and functional status of adults with cerebral palsy. Dev Med Child Neurol. 1995;37:1075–1084. 137. Nagankatti D, Banta J, Thomson J. Charcot arthropathy in spina bifida. J Pediatr Orthop. 2000;20:82–87. 138. Oakeshott P, Reid F, Poulton A, et al. Neurologic level at birth predicts survival to the mid-40s and urological deaths in open spina bifida: a complete prospective cohort study. Dev Med Child Neurol. 2015;57(7):634–638. 139. Oi S. Current status of prenatal management of fetal spina bifida in the world: worldwide cooperative survey on the medico-ethical issue. Child Nerv Syst. 2003;19:596–599. 140. Oi S, Sato O, Matsumoto S. Neurologic and medico-social problems of spina bifida patients in adolescence and adulthood. Child Nerv Syst. 1996;12:181–187. 141. Okamoto G.A, Lamers J.V, Shurtleff D.B. Skin breakdown in patients with myelomeningocele. Arch Phys Med Rehabil. 1983;64:20–23. 142. Okamoto G.A, Sousa J, Telzrow R.W, et al. Toileting skills in children with myelomeningocele: rates of learning. Arch Phys Med Rehabil. 1984;65(4):182–185. 143. Ounpuu S, Davis R.B, Banta J.V, DeLuce P.A. The effects of orthotics on gait in children with low-level myelomeningocele. Chicago, IL: Proceedings of the North American Congress on Biomechanics; 1992:323–324. 144. Overgoor M.L.E, Kon M, Cohen-Kettenis P.T, et al. Neurologic bypass for sensory innervations of the penis in patients with spina bifida. J Urol. 2006;176:1086–1090. 145. Reference deleted in proofs.

1923

146. Pact V, Sirotkin-Roses M, Beatus J. The muscle testing handbook. Boston: Little, Brown; 1984. 147. Padua L, Rendeli C, Rabini A, et al. Health-related quality of life and disability in young patients with spina bifida. Arch Phys Med Rehabil. 2002;83:1384–1388. 148. Paleg G.S, Smith B.A, Glickman L.B. Systematic review and evidence-based clinical recommendations for dosing of pediatric supported standing programs. Pediatr Phys Ther. 2013;25(3):232–247. 149. Patient Data Management System: Myelodysplasia Study Data Collection Criteria and Instructions. 1994. 150. Persad V.L, Van den Hof M.C, Dube J.M, Zimmer P. Incidence of open neural tube defects in Nova Scotia after folic acid fortification. CMAJ. 2002;167:241–245. 151. Peterson P, Rauen K, Brown J, Cole J. Spina bifida: the transition into adulthood begins in infancy. Rehabil Nurs. 1994;19:229–238. 152. Pomatto R.C. The use of orthotics in the treatment of myelomeningocele. In: Rekate H.L, ed. Comprehensive management of spina bifida. Boca Raton, FL: CRC Press; 1991:165–183. 153. Reigel D.H. Spina bifida from infancy through the school years. In: Kelly F.L, Reigel D.H, eds. Teaching the student with spina bifida. Baltimore: Paul H. Brookes; 1992:3–30. 154. Rekate H.L. Neurosurgical management of the newborn with spina bifida. In: Rekate H.L, ed. Comprehensive management of spina bifida. Boca Raton, FL: CRC Press; 1991:1–28. 155. Reynolds E.H. Mental effects of antiepileptic medication: a review. Epilepsia. 1983;24(Suppl 2):S85–S95. 156. Rose S.A, Ounpuu S, DeLuca P.A. Strategies for the assessment of pediatric gait in the clinical setting. Phys Ther. 1991;71:961–980. 157. Rosenstein B.D, Greene W.B, Herrington R.T, Blum A.S. Bone density in myelomeningocele: the effects of ambulatory status and other factors. Dev Med Child Neurol. 1987;29:486–

1924

494. 158. Rowley-Kelly F.L, Kunkle P.M. Developing a school outreach program. In: RowleyKelly F.L, Reigel D.H, eds. Teaching the student with spina bifida. Baltimore: Paul H. Brookes; 1992:395–436. 159. Ryan K.D, Pioski C, Emans J.B. Myelodysplasia—the musculoskeletal problem: habilitation from infancy to adulthood. Phys Ther. 1991;71:935–946. 160. Salvaggio E, Mauti G, Ranieri P, et al. Ability in walking is a predictor of bone mineral density and body composition in prepubertal children with myelomeningocele. In: Matsumoto S, Sato H, eds. Spina bifida. New York: Springer Verlag; 1999:298–301. 161. Sand P.L, Taylor N, Rawlings M, Chitnis S. Performance of children with spina bifida manifest on the Frostig Developmental Test of Visual Perception. Percept Mot Skills. 1973;37:539–546. 162. Schafer MF, Dias LS: Myelomeningocele: orthopaedic treatment, Baltimore, Williams Wilkins 13. 163. Schneider J.W, Krosschell K, Gabriel K.L. Congenital spinal cord injury. In: Umphred D.A, ed. Neurologic rehabilitation. ed 4. St. Louis: Mosby; 2001:454–483. 164. Schopler S.A, Menelaus M.B. Significance of strength of the quadriceps muscles in children with myelomeningocele. J Pediatr Orthop. 1987;7:507–512. 165. Seller M.J, Nevin N.C. Periconceptual vitamin supplementation and the prevention of neural tube defects in south-east England and Northern Ireland. J Med Genet. 1984;21:325–330. 166. Shaffer J, Wolfe L, Friedrich W, et al. Developmental expectations: intelligence and fine motor skills. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:359–372. 167. Shapiro E, Kelly K.J, Setlock M.A, et al. Complications of latex allergy. Dia Pediatr Urol. 1992;15:1–5. 168. Sherk H, Uppal G, Lane G, Melchionni J. Treatment versus nontreatment of hip dislocations in ambulatory patients

1925

with myelomeningocele. Dev Med Child Neurol. 1991;33:491– 494. 169. Shin M, Besser L.M, Siffel C, et al. Prevalence of spina bifida among children and adolescents in 10 regions in the United States. Pediatrics. 2010;126:274–927. 170. Shores M. Footprint analysis in gait documentation. Phys Ther. 1980;60:1163–1167. 171. Shurtleff D.B. Timing of learning in the myelomeningocele patient. Phys Ther. 1966;46(2):136–148. 172. Shurtleff D.B. Decubitus formation and skin breakdown. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:299–312. 173. Shurtleff D.B.: Dietary management. (1986b). In Shurtleff D.B., editor: Myelodysplasias and exstrophies: significance, prevention, and treatment, Orlando, FL, 1986, Grune Stratton, pp 285–298. 174. Shurtleff D.B. Health care delivery. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986 pp 449–514. 175. Shurtleff D.B.: (1986d). Mobility. In Shurtleff D.B., editor: Myelodysplasias and exstrophies: significance, prevention, and treatment, Orlando, FL, 1986, Grune Stratton, pp 313–356. 176. Shurtleff D.B. Selection process for the care of congenitally malformed infants. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:89–116. 177. Shurtleff D.B, Dunne K. Adults and adolescents with myelomeningocele. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986 pp 433–448. 178. Shurtleff D.B, Lamers J. Clinical considerations in the treatment of myelodysplasia. In: Crandal D.B, Brazier M.A.B, eds. Prevention of neural tube defects: the role of alpha-fetoprotein. New York: Academic Press; 1978:103–122. 179. Shurtleff D.B. Mayo M: Toilet training: the Seattle

1926

experience and conclusions. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:267–284. 180. Shurtleff D.B, Duguay S, Duguay G, et al. Epidemiology of tethered cord with meningomyelocele. Eur J Pediatr Surg. 1997;7(Suppl 1):7–11. 181. Shurtleff D.B, Lemire R.J, Warkany J. Embryology, etiology and epidemiology. In: Shurtleff D.B, ed. Myelodysplasias and exstrophies: significance, prevention, and treatment. Orlando, FL: Grune Stratton; 1986:39–64. 182. Shurtleff D.B, Luthy D.A, Benededetti T.J, Mack L.A. Meningomyelocel management in utero and post partum. Neural tube defects. CIBA Found Symp. 1994;181:270–286. 183. Simeonsson R.J, Huntington G.S, McMillen J.S, et al. Development factors, health, and psychosocial adjustment of children and youths with spina bifida. In: Matsumoto S, Sato S.H, eds. Spina bifida. New York: Springer Verlag; 1999:543–551. 184. Sival D.A, Brouwer O.F, Bruggink J.L.M, et al. Movement analysis in neonates with spina bifida aperta. Early Hum Dev. 2006;82:227–234. 185. Sousa J.C, Gordon L.H, Shurtleff D.B. Assessing the development of daily living skills in patients with spina bifida. Dev Med Child Neurol. 1976;18(Suppl 37):134–142. 186. Sousa J.C, Telzrow R.W, Holm R.A, et al. Developmental guidelines for children with myelodysplasia. Phys Ther. 1983;63:21–29. 187. Stack G.D, Baber G.C. The neurological involvement of the lower limbs in myelomeningocele. Dev Med Child Neurol. 1967;9:732. 188. Staheli L.T. Prone hip extension test: method of measuring hip flexion deformity. Clin Orthop. 1977;123:12–15. 189. Staheli L.T. Practice of pediatric orthopedics. Philadelphia: Lippincott Williams Wilkins; 2001. 190. Stillwell A, Menelaus M.B. Walking ability in mature patients with spina bifida. J Pediatr Orthop. 1983;3:184–190.

1927

191. Stuberg W.A, Metcalf W.K. Reliability of quantitative muscle testing in healthy children and in children with Duchenne muscular dystrophy using a hand-held dynamometer. Phys Ther. 1988;68:977–982. 192. Sutton L.N. Fetal surgery for neural tube defects. Best Pract Res Clin Obstet Gynaecol. 2008;22:175–188. 193. Szalay E.A, Cheema A. Children with spina bifida are at risk for low bone density. Clin Orthop Relat Res. 2011;469(5):1253–1257. 194. Teulier C, Smith B.A, Kubo M, et al. Stepping responses of infants with myelomeningocele when supported on a motorized treadmill. Phys Ther. 2009;89(1):60–72. 195. Tew B, Laurence K.M. The effects of hydrocephalus on intelligence, visual perception, and school attainments. Dev Med Child Neurol. 1975;17(Suppl 35):129–134. 196. Torode I, Godette G. Surgical correction of congenital kyphosis in myelomeningocele. J Pediatr Orthop. 1995;15:202–205. 197. Tulipan N, Sutton L.N, Cohen B.M. The effect of intrauterine myelomeningocele repair on the incidence of shunt-dependent hydrocephalus. Pediatr Neurosurg. 2003;38:27–33. 198. Turk M.A, Weber R.J. Adults with congenital and childhood onset disability disorders. In: DeLisa J.B, Gans B.M, eds. Rehabilitation medicine: principles and practice. ed 3. Philadelphia: Lippincott-Raven; 1998:953–962. 199. Vankoski S, Moore C, Satler K, et al. The influence of forearm crutches on pelvic and hip kinematic parameters in childhood community ambulators with low-level myelomeningocele-Don’t throw away the crutches. Dev Med Child Neurol. 1995;37(Suppl 75):5–6. 200. Weber D, Agro M. Clinical aspects of lower extremity orthotics. Winnipeg, Manitoba: Canadian Association of Prosthetists and Orthotists; 1993. 201. Wicks K., Shurtleff D.B.: (1986a). An introduction to toilet training. In Shurtleff D.B., editor: Myelodysplasias and exstrophies: significance, prevention, and treatment, Orlando,

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FL, 1986, Grune Stratton, pp 203–219. 202. Wicks K., Shurtleff D.B.: (1986b). Stool management. In Shurtleff D.B., editor: Myelodysplasias and exstrophies: significance, prevention, and treatment, Orlando, FL, 1986, Grune Stratton, pp 221–242. 203. Williams E.N, Broughton N.S, Menelaus M.B. Age-related walking in children with spina bifida. Dev Med Child Neurol. 1999;41:446–449. 204. Reference deleted in proofs. 205. Williams L.V, Anderson A.D, Campbell J, et al. Energy cost of walking and of wheelchair propulsion by children with myelodysplasia: comparison with normal children. Dev Med Child Neurol. 1983;25:617–624. 206. Winter D.A. Knee flexion during stance as a determinant of inefficient walking. Phys Ther. 1983;63:331–333. 207. Wolf L.S, McLaughlin J.F. Early motor development in infants with myelomeningocele. Pediatr Phys Ther. 1992;4:12–17. 208. Wright J, Menelaus M, Broughton N, Shurtleff D. Natural history of knee contractures in myelomeningocele. J Pediatr Orthop. 1991;11:725–730. 209. Yi Y, Lindemann M, Colligs A, et al. Economic burden of neural tube defects and impact of prevention with folic acid: a literature review. Eur J Pediatr. 2011;170(11):1391– 1400. 210. Zsolt S, Seidl R, Bernert G, et al. Latex sensitization in spina bifida appears disease-associated. J Pediatr. 1999;134:344– 348.

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Children With Autism Spectrum Disorder Toby Long, and Jamie M. Holloway

Introduction Autism spectrum disorder (ASD) is a developmental disability that results in significant social, communication, and behavioral challenges. Data from the Centers for Disease Control and Prevention (CDC) suggest that, although an experienced professional can identify ASD by the time a child is age 2, ASD is often not diagnosed until a child is age 4 or later.23 The cause of ASD is unknown, but suspected genetic and environmental risk factors are associated with the diagnosis. The CDC currently estimates that 1 in 68 children are diagnosed with autism.23 Blumberg et al.,17 however, surveyed parents regarding the ASD diagnosis, and their results indicate that the prevalence may be as high as 1 in 50. Boys are four times more likely to be diagnosed with ASD than girls.6,22 This chapter describes the characteristics of ASD, the diagnostic process, program planning, and evidence-based decision making for children with ASD. The chapter also emphasizes the role of the physical therapist in a comprehensive interdisciplinary team–based

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approach to the intervention of children and youth with ASD.

Background Information Etiology and Pathophysiology of Autism Spectrum Disorder There is no one etiology for autism. Autism is considered a neurologically based condition, probably due to a genetic predisposition and environmental interactions. In addition to the increased incidence of children in families being diagnosed with ASD, there are also several genetic disorders associated with ASD. These include tuberous sclerosis, fragile X syndrome, chromosome 15 deletion syndromes such as Prader-Willi syndrome and Angelman syndrome, Down syndrome, moebius, and CHARGE syndrome (of the eye, heart defects, atresia of the choanae, retardation of growth and development, and ear abnormalities and deafness).56 Family studies have also provided information on the genetic basis for ASD. Hallmayer et al.53 found that in a sample of 192 sets of twins in California, 77% of the identical twin boys and 31% of the fraternal twin boys had ASD. Chawarska and colleagues from the Baby Siblings Research Consortium (BSRC)24 found that as young as 18 months of age, siblings of children diagnosed with ASD have distinct patterns of behavior that may predict the diagnosis of autism at 36 months of age. The BSRC study indicates that siblings of children with autism are 14.7 times more likely than siblings of children without autism to be diagnosed with autism at 36 months of age. The study found patterns of behavior at 18 months of age that identified the amount of risk to be diagnosed with ASD at age 36 months. Children at 18 months of age who showed poorly modulated eye contact to initiate, terminate, or regulate social interactions; the absence of giving objects to others to share; and limited use of emotional or descriptive communicative gestures other than pointing were three times more likely to be diagnosed with ASD at 36 months. Other children who showed impaired eye contact and the inability to spontaneously engage in pretend play were almost two times more likely to be diagnosed with ASD. A

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third group of siblings in this study demonstrated repetitive and stereotyped behaviors and rarely or never engaged in sharing behaviors, typical eye contact, and other appropriate communication behaviors. Despite being what the authors considered to be borderline at 18 months, children in this group were three times more likely to be diagnosed with ASD at 36 months than were peers who did not have siblings with ASD. Evidence of a variety of neurologic abnormalities has been found in people with ASD. Studies suggest that underconnectivity in the brain leads to decreased communication between brain regions and resultant impairments.49,61,86 Libero71 also found significantly decreased cortical thickness, white matter connectivity, and neurochemical concentrations in the brains of adults with ASD. Evidence of inflammation in the glia of the brains of people with ASD has also been found.52 These brain abnormalities may be associated with the motor deficits seen in children with ASD. For example, Bailey et al.8 showed a decrease in the number of Purkinje cells in the vermis and hemispheres in the cerebellum. This may contribute to the poor coordination seen in children with ASD.44 Other neurologic evidence suggests that the function of mirror neurons might be altered in children with ASD. Mirror neurons are activated when people perform a task as well as when they observe a task.41 Mirror neurons are thought to be involved in the recognition of motor tasks. Studies have suggested that the dysfunction in this system might also explain the social and cognitive impairments observed in children with ASD.97 Although environmental factors may interact with genes to contribute to the expression of autistic symptoms, there is little indication of what these specific environmental factors may be.56

Diagnostic Criteria Across Autism Spectrum Disorder A diagnosis of ASD is made based on criteria listed in the Diagnostic and Statistical Manual, Fifth Edition (DSM-5).34 The DSM-5 combines the criteria for autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder not

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otherwise specified (PDD-NOS) under the umbrella of autism. The diagnosis is based on symptoms that do the following: • Cause functional impairment • Are present in early childhood • Are not better described by another condition The criteria define the severity of ASD based on the level of support the child needs to communicate, problem solve, use movement, and use behavior above what would be expected for his or her age. The severity also reflects the impact of co-occurring conditions such as an intellectual disability or attention deficit disorder. There are three categories of symptoms: • Social reciprocity • Communication intent • Repetitive behaviors These three categories of symptoms fall under two types of ASD: • Social communication/interaction • Restricted and repetitive behaviors For a child to be diagnosed with the social communication/interaction type of ASD, three behaviors must be present. The child must have difficulty establishing/maintaining back and forth interactions, maintaining relationships, and communicating nonverbally. For a child to be diagnosed with the restricted/repetitive behaviors type of ASD, two of four behaviors must be present. The child must display stereotyped, repetitive speech, movements, or object play; excessive adherence to routines or rituals; highly restrictive, abnormal interests; or hyper/hyporeactivity to sensory input or unusual interest in sensory input. Box 24.1 delineates the criteria as defined by the DSM-5. Several additional features associated with ASD have been identified.6 These include the following: • Motor deficits such as unusual gait, clumsiness, or toe-walking • Self-injurious behavior such as head banging or biting • Anxiety or depression

B O X 2 4 . 1 DSM-5

Criteria for the Diagnosis of

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Autism Spectrum Disorder • Deficits in social communication and social interaction across multiple contexts • Deficits may be in social-emotional reciprocity • Deficits in nonverbal communication • Deficits in developing, maintaining, and understanding relationships • Restricted repetitive patterns of behavior, interest, or activities; the individual must demonstrate two of the following four criteria • Stereotyped or repetitive motor movement, use of objects, or speech (lining up toys, echolalia, etc.) • Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (difficulties with transitions, greeting rituals, etc.) • Highly restricted, fixated interests that are abnormal in intensity or focus (perseverative interests, strong attachment to or preoccupation with unusual objects, etc.) • Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (adverse responses to sounds or textures, apparent indifference to pain/temperature, etc.) • Symptoms must be present from early developmental period • Symptoms must cause clinically significant impairment in social, occupational, or other important areas of current functioning • Disturbances are not better explained by intellectual disability or global developmental delay From Autism spectrum disorder. In American Psychiatric Association: Diagnostic and statistical manual of mental disorders, ed 5, Washington, DC, 2013, American Psychiatric Association.

• A large gap between intellectual ability and adaptive/self-care skills • Significant delays or impairments in performing routine daily caregiving tasks, even if the child does not have an intellectual disability Motor skill performance has previously been thought of as a strength for children with autism. Research, however, indicates that

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this area may be a strength only in comparison to other areas of difficulty or deficits. Several studies synthesized by Downey and Rapport33 have found that children with ASD score lower on tests of fine and gross motor skill development when compared to children without autism. Current literature also shows difficulties with coordination and postural control in children with ASD.33 Green et al.50 found that 79% of their sample of children with ASD had motor impairments based on the Movement Assessment Battery of Children–2, and the scores of 10% more of their sample were in the borderline range. More recently, children with ASD demonstrated greater overall motor impairment in comparison to children who are typically developing or have a diagnosis of attention deficient disorder (ADHD).2 Children with ASD are also likely to have more difficulty maintaining balance and catching a ball, findings that are consistent with previous reports.2,50

Associated Conditions Children with autism may also have a variety of related conditions. ASD commonly co-occurs with other developmental, psychiatric, neurologic, chromosomal, and genetic diagnoses (Table 24.1). The co-occurrence of one or more non-ASD developmental diagnoses such as intellectual disability, learning disabilities, or sensory processing disorders is 83%.70 The co-occurrence of one or more psychiatric diagnoses such as anxiety or depression is 10%.70 It is critical for the interdisciplinary team determining the diagnosis of ASD to differentiate autism from other possible diagnoses and share with families all conditions that may be contributing to a child’s behavior and characteristics. Table 24.1 describes associated conditions often seen in children with ASD.

General/Medical Diagnostic Process Screening Early identification and intervention are critical for children with autism.128 Research indicates that early intervention positively effects developmental and functional outcome of children with

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ASD.100 Screening tools are helpful to determine if a family should explore further evaluation. Studies show that routine screening increases the rates of referral to appropriate intervention services and supports.31,51 Several tools have been developed to screen for ASD in young children. Caution should be taken when using these tools because they were developed using previous diagnostic criteria and may not accurately screen for ASD under current DSM5 criteria. There has been little research assessing the accuracy of these screening tools against the DSM-5 criteria. However, as clinical tools to determine if referral for further testing is necessary, they still are useful. General developmental screening tools, such as the Ages and Stages Questionnaires–3113 or the Denver Developmental Screening Tool,48 are also used to determine if a child has generalized developmental delays. Table 24.2 describes commonly used tools developed specifically for screening children for ASD. The American Academy of Pediatrics60 recommends screening for autism during well child checks at 18 and 24 months of age for all children, with earlier screening recommended if a specific concern arises from the parent or pediatrician or if the child has a sibling with ASD. Physical therapists working with young children may also be involved in screening for ASD to make appropriate referral to an interdisciplinary team for diagnostic evaluation if concerns are noted. Based on screening results, recommendations for a comprehensive diagnostic examination will be made to determine eligibility and to develop a comprehensive program plan if necessary. TABLE 24.1 Co-occurring Conditions Associated With Autism Spectrum Disorder

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Diagnostic Evaluation A diagnostic evaluation should be completed to determine an appropriate diagnosis if a screening indicates that a child may have ASD. Research shows that an accurate diagnosis can be made by 24 months of age.31 Best practice guidelines recommend diagnostic evaluations be conducted by an interdisciplinary team. Team members may include a psychologist, psychiatrist, developmental pediatrician, neurologist, physical therapist, occupational therapist, speech-language pathologist, and sometimes a special educator. Physical therapists who are involved in the diagnostic evaluation process will conduct a comprehensive physical therapy examination of a child’s sensory-motor abilities and behaviors and make recommendations for services. Physical therapists may also be involved in the administration of specific tools used to aid in the diagnosis of ASD if they have received specialized training in these

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tools. TABLE 24.2 Comparison of Selected Screening Tools for Autism Spectrum Disorder

Based on reported research.

From Long T, Brady R: Contemporary practices in early intervention for children birth through five: a distance learning curriculum, Washington, DC, 2012, Georgetown University. Available at teachingei.org.

The comprehensive interdisciplinary evaluation examines all areas of development including communication, speech, language, fine, gross, and perceptual motor skills, self-help skills, socialemotional, and cognitive skills. A diagnosis is made based on criteria in the DSM-5 described previously. Some tools also exist to help clinicians gather information specific to the diagnosis of ASD based on salient characteristics. As indicated under screening, these diagnostic tools were also developed prior to the publication of the DSM-5, thus caution should be used when interpreting the information in relationship to the DSM-5 diagnostic criteria. Table 24.3 provides salient information on the three most popular diagnostic tools administered by trained members of interdisciplinary teams that evaluate and serve individuals with ASD and their families. Box 24.2 delineates specific information about the Childhood Autism Rating Scale, Second Edition,106 a commonly used tool to differentiate children with ASD from those with severe cognitive disabilities. All members of the team are eligible to be trained in the use of these tools, including physical therapists.

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Foreground Information Physical Therapy Examination History A comprehensive physical therapy examination includes obtaining a thorough history through chart review, family interviews, and interviews with other caregivers such as child care providers or teachers. Critical medical history may include history of seizures, allergies, medications, immunizations, and any significant hospitalization. Specific to children with ASD, information such as involvement in and outcomes of past therapeutic history, early intervention services, and community-based activities should be obtained. Children with ASD often participate in alternative programs such as special diets. Documenting these programs and what effects these may have had is important.

Systems Review The physical therapy examination begins with an anatomic and physiologic review of systems. Any issues or concerns identified during systems review warrant further testing during examination of body structures and function, activity, and participation. Children with ASD often have co-occurring conditions in a variety of physiologic and psychological systems (see Table 24.1). Because ASD is a complex, multisystem condition, the physical therapy examination is most often one component of a multidisciplinary evaluation. Information specific to cognition, communication, social skills, and the like will be examined by other team members; however, the physical therapist should be aware of the child’s communication and interaction style and skill level to interact effectively with him or her, thus the physical therapist should review current information in these areas. The physical therapy examination will include specific examination of the musculoskeletal, neuromuscular, and sensory-motor systems, but a brief assessment of these systems should begin during the systems review to identify initial concerns related to these systems. Older children with physical activity limitations or who are obese may identify issues in these areas that warrant further

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cardiovascular/pulmonary system examination assessing endurance and speed for example. A brief assessment of the integumentary system is also important to evaluate the integrity of the child’s skin and inquire about the child’s history of selfinjurious behavior or falls. Important findings from the review of systems will determine specific tests and measures to be performed during the physical therapy examination. Physical therapists should review, through family interview or chart review, systems such as the gastrointestinal, hearing, and vision. TABLE 24.3 Tools Used for the Diagnosis of Autism Spectrum Disorder

B O X 2 4 . 2 CARS-2

Functional Areas of

Assessment • Relating to people • Imitation (ST); social-emotional understanding (HF) • Emotional response (ST); emotional expression and regulation of emotions (HF) • Body use • Object use (ST); object use in play (HF) • Adaptation to change (ST); adaptation to change/restricted interests (HF) • Visual response • Listening response • Taste, smell, and touch response and use

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• Fear or nervousness (ST); fear or anxiety (HF) • Verbal communication • Nonverbal communication • Activity level (ST); thinking/cognitive integration skills (HF) • Level and consistency of intellectual response • General impressions HF, High-Functioning Rating Scale (HF); ST, Standard Version Rating Scale.

Tests and Measures Impairment Impairments in body structure and function may impact a child’s activities and participation. Measures of strength, range of motion, muscle tone, and balance described elsewhere in this text can also be used with children with ASD. Measurement of sensory processing is an important factor in the physical therapy examination for children with autism. Sensory processing differences have been well documented in people with ASD. Prevalence rates range from 40% to > 90%.101 Tomchek, Huebner, and Dunn123 have provided background information on these differences documented in the basic science literature, clinical literature, and in first-person accounts. Sensory processing difficulties have been associated with social communication challenges,130 social participation,96 and social adaptive behaviors.14 The Sensory Profile 2 (SP-2)36 is one of a family of tools developed to determine how people process sensory information in everyday situations. The SP-2 is a parent-report tool on children from birth through 14 years 11 months that measures sensory processing through six sensory systems: auditory, visual, touch, movement, body position, and oral. Scores are used to develop a sensory pattern for the child. The tool also includes a planning report to link findings to participation in a variety of settings such as home and school. Research using the Sensory Profile35,36 has identified sensory processing dysfunction in children with autism and differentiating patterns of sensory processing in children with ASD in comparison to typically developing peers.123 Tomchek, Huebner, and Dunn124

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conducted a large-scale study (n = 400) identifying six sensory processing factors using a short form of the Sensory Profile, which may impact development, learning, and social interaction. These include low energy/weak, tactile/movement sensitivity, taste/smell sensitivity, auditory/visual sensitivity, sensory seeking/distractibility, and hyporesponsitivity. These factors are consistent with findings from smaller-scale studies conducted since the 1990s35,81,82 indicating that deficits in these areas limit a child’s attention, contribute to distractibility, and influence arousal, all necessary components for learning. Physical therapists’ knowledge in the sensory processing area and their expertise in evaluating this area are unique contributions to the team’s ability to describe the child comprehensively, explain performance, and develop comprehensive, responsive, functional program plans.

Activity and Participation Examination of a child’s strengths and limitations in activities and participation during daily routines is an important part of physical therapy examination. When possible, the examination should occur during the child’s natural routines to obtain a true picture of the child’s abilities. The examination should focus on activities most relevant to the child and family’s needs. Tools are available to assist the physical therapist (PT) in determining developmental skill level.13,19,46 There are also tools that assess underlying components of movement or motor skills that may be helpful for children with dyspraxia, a characteristic seen in many children with ASD.101 Tools such as the Test of Gross Motor Development–3;125 the Movement Assessment Battery for Children–2;54 and the Miller Function and Participation Scales83 may be helpful for children with less severe forms of ASD. As discussed earlier, Ament et al.2 demonstrated that findings from the Movement Assessment Battery for Children–2 (MABC-2) differentiated children with ASD from those with ADHD and typically developing children, thus the MABC-2 may be a particularly helpful tool for physical therapists. The MABC-2 is designed to differentiate skills that require visual, temporal, and spatial characteristics of an action such as ball catching. Emphasis on examining a child’s participation has become

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increasingly important, and tools have become available to guide this component of a comprehensive physical therapy exam. The Children’s Assessment of Participation and Enjoyment (CAPE) and the Preferences for Activities of Children (PAC)63 are designed to measure the participation of children ages 6 to 21. These tools are self-report measures of the child’s participation in recreation and leisure activities outside of required school activities. The CAPE measures formal and informal activities of recreational, active physical, social, skill-based, and self-improvement domains. The PAC has an additional dimension to examine the child’s preferences. The Preschool Activity Card Sort (PACS)15 was developed to examine participation for children between the ages of 3 and 6 years old. The PACS is administered through parent interview. Domains of the PACS include domestic life, self-care, mobility, education, interpersonal interactions and relationships, and community, social, and civic measurements. McWilliam and colleagues80 have developed a family of routinesbased tools that help providers determine a young child’s engagement and independence in participating in a variety of functional activities. These routines-based interviews are especially helpful for team-based decision making and outcome determination in early intervention or early childhood programming. The School Function Assessment (SFA)28 is another tool that teams find helpful for determining a child’s activity limitations and participation. The SFA helps school-based teams determine how participatory early elementary-aged children are in completing nonacademic skills required in classrooms and school wide. Skills include classroom activities such as computer use, mobility around the school environment, and participation in the cafeteria. See Chapter 2 for a full description of these and other tools that therapists may find helpful for assessing activity limitations and participation. Also, Selected Assessment Tools for the Evaluation of Children with Autism Spectrum Disorder in School Based Practice, developed by the Academy of Pediatric Physical Therapy of the American Physical Therapy Association, describes a variety of tools across domains that the PT may find helpful. Assessment of gait is another important component of the examination, as toe-walking and other gait abnormalities are

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common in children with ASD. Over 20% of children with ASD walk on their tiptoes.12 A study by Esposito et al.42 found that toddlers with ASD showed more asymmetry in gait compared to toddlers with developmental delay and toddlers who were typically developing. Gait abnormalities such as toe-walking can lead to decreased range of motion in the ankle joint, thus, it is important to address this issue as early as possible. Determining the child’s level of independence and participation in adaptive skills such as self-care is also important. Research suggests that higher adaptive functioning is associated with positive outcomes in adults with ASD.43 The Pediatric Evaluation of Disability Inventory-Computer Adapted Test (PED-CAT) as described in Chapter 2 is commonly used to measure capability and performance of skills in the self-care, mobility, and social function in children from birth to 21 years of age. The authors have adapted the PEDI-CAT to meet the unique characteristics of children with autism.65 Research indicates that the PEDI-CAT (ASD) is a reliable tool that parents find easy to use. The Vineland Adaptive Behavior Scales, Second Edition (VABS-II)111 measures adaptive behavior from birth through adulthood. Domains on the VABS-II include communication, daily living skills, socialization, motor skills, and an optional maladaptive behaviors index. The VABS-II is administered via parent or teacher interview. Using the daily activities, social/cognitive and responsibility domains of the PEDICAT (ASD), Kramer, Lilenquist, and Coster65 found that those constructs are similar to the VABS-II in children with autism, providing validity for its use with this population. The authors also found that parents preferred the PEDI-CAT (ASD) to the VABS-II as they found the computer version easier to use, quicker, more efficient, and more strength based.

Environmental Considerations The International Classification of Functioning, Disability and Health (ICF) model views disability and functioning as the outcome of the interaction between the health condition and contextual factors.133 Contextual factors include external environmental factors and internal personal factors. Environmental factors include limiting and enabling factors that are external to the individual

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such as social attitudes, legal policies, and architectural characteristics. The physical therapist may not be able to directly control or change the environmental factors; however, understanding the child’s functioning within the context of the environment is important for establishing appropriate intervention strategies. Consideration of the environmental stimuli that are present is important when working with children with ASD. For example, a child with ASD might prefer an environment with low noise and minimal visual distractions, whereas another child may prefer a loud, busy environment. Personal factors are those that are internal to the individual, including age, coping style, and past experience. An understanding of personal factors that motivate an individual can provide an important context for meaningful interventions for the child. This is especially important when working with children with ASD who have very narrow interests. The Sensory Profile 2 is a helpful tool for linking environmental factors to a child’s behavior. Although it may be challenging to achieve change in certain characteristics of a child with ASD (for example, tactile sensitivity), removing tags from clothing or avoiding certain materials may decrease the child’s negative behaviors that are a preferred response to tactile stimulation.

Evaluation/Interpretation–Clinical Decision Making Regarding Need for Physical Therapy Services Using the examination information and that obtained from team members, the physical therapist, in collaboration with the team, will design an appropriate, meaningful, functional intervention plan. The evidence-informed decision-making process considers the strengths and needs of the child and family, research evidence on intervention strategies and procedures, clinical expertise, and the home and community environment. Current practice indicates that children should be served in the natural environment by those practitioners with the skills and knowledge to best help the child and family meet their outcomes.38,120

Determining Outcomes and Goals The comprehensive physical therapy examination process includes collecting information specifically to help the program planning

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process. Program planning includes determining outcomes and goals that promote a child’s functional activity and participation, limit impairments, or prevent further disability. Depending on the physical therapy practice environment (early intervention, school based, inpatient, outpatient, etc.) these outcomes may be developed within a team process or independently. In addition to tools described previously such as the routines-based interviews, the CAPE/PAC, SFA, and so on, the Canadian Occupational Performance Measure,68 goal attainment scaling,105 and the top-down approach are useful for program planning. The top-down approach described in Chapter 18 is very helpful for identifying possible barriers to the accomplishment of specific tasks for children with complex diagnoses such as ASD. This approach is consistent with a family-centered, team-based practice that is supported for children with disabilities, especially those being served by the part B and part C components of the Individuals with Disabilities Education Act (IDEA). The approach helps providers to link specific impairments or activity limitations to a desired outcome, easing the measurement and documentation of change toward reaching functional outcomes. As discussed previously, decisions regarding which professionals will provide intervention to the child and how often are based on the outcomes determined by the team.

Physical Therapy Intervention Coordination, Communication, Documentation Physical therapists must coordinate their services with other service providers to ensure that children with ASD are receiving comprehensive services delivered in a manner that reinforces goals and outcomes across providers, builds on the child’s strengths, and assists the child to bypass barriers in performing functional and meaningful skills and activities. PTs are responsible for communicating their examination findings to other team members, explaining perspective and findings, and developing with the team a comprehensive integrated service plan. Physical therapists may be

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required to document their services in a variety of ways depending on the payment and regulatory systems. For example, under the Infants and Toddlers Program of IDEA, physical therapists will need to document their services through the Individualized Family Service Plan (IFSP) process. They may also have to document their services as required by a third-party payment system such as Medicaid. Physical therapists often voice concern about inefficiency, duplication of documentation, and the changing requirements for documentation as children age due to the variety of regulatory and payment systems serving children with complex developmental disorders such as autism spectrum disorder.

Patient/Caregiver Instruction Pediatric physical therapy requires ongoing collaboration with family members and other caregivers. Evidence indicates that children develop new skills, learn tasks, and participate effectively when intervention is intensive and embedded into the context of daily routines and activities. Parent and caregiver instruction should focus on strategies to promote a child’s participation in daily routines and activities.

Procedural Interventions Contemporary practice supports a team-based approach to intervention planning and service delivery that promotes active participation of children with ASD in the community. As with all children with disabilities or developmental delays, intervention for children with ASD should be evidence based and represent contemporary best practices. These practices include those that are (1) team based, in which the family is an equal, contributing member of the team; (2) delivered in what is considered the natural context for learning the skills desired; (3) based on the interests of the child; and (4) lead to mastery.25 Information about interventions for children with ASD can be found readily in professional literature as well as in popular media. Families receive a variety of mixed messages in regard to intervention effectiveness. Professionals should be aware that parents, who ultimately choose interventions for their children,

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more often base those decisions from nonmedical professionals and lay publications.85 It is critical that professionals present intervention choices to families based on objective, evidence-based information and help families sort through the plethora of information presented. This is particularly relevant for interventions considered complementary and alternative medicine (CAM). It is estimated that between 52% and 95% of children with ASD have used CAM.1 Physical therapists should discuss nonjudgmentally with families the evidence for the effects of various types of CAM. A thorough summary of common CAM used by families with children with ASD has been provided by Akins, Anguskustsiri, and Hansen.1 A unique aspect to this review, which may be particularly helpful for physical therapists, is categorization of each intervention as being safe or unsafe, and it provides an evidence-based recommendation to discourage or monitor its use.

Guiding Principles of Effective Intervention Many interventions and programs exist for children with autism. The appendix describes a variety of programs commonly used for children with ASD. Although research is emerging to support some approaches, it is apparent that no single approach works for every child with ASD. A 2003 review of the literature on ASD-specific interventions, however, revealed six common characteristics or threads among programs that have been deemed effective for children with ASD.57 The literature continues to support these characteristics62,89: • Early intervention. Research supports the importance of earliest possible intervention. Children who receive intervention early tend to make changes across all domains.128 • Family involvement. Because families are the consistent and stable influence in a child’s life, it is imperative that families are involved in the intervention. Family involvement includes teaching parents strategies to promote development or desired behaviors. Family involvement during an individualized family support plan (IFSP) and individualized education program (IEP) development is mandated by the Individuals with Disabilities Education Act (IDEA) and research indicates that children whose

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families are a part of the intervention program meet outcomes faster.37 • Individualized programming. Given that no single approach appears to benefit all children with ASD, it is recommended that interventions are individualized to meet the needs of the child with ASD and his or her family and team. Individualized programming involves consideration of the family’s preferences and child expectations (for example, classroom expectations) when determining the intervention methods used and outcomes to be met. Incorporating the child’s preferences and interests into the program and focusing on the child’s strengths are also important factors for individualized programming. • Systematic intervention. Systematic intervention refers to the systematic collection of data to identify developmental outcomes and carefully outline intervention procedures for serving children as well as evaluating the effectiveness of the procedures. Systematic intervention targets the promotion of meaningful skills and the collection of specific data to determine change over time.55,104 • Structured/predictable environments. Environments are considered structured when the activities, schedule, and environment are clear to the child, teacher, therapist, and family. Young children, including those with ASD, have been shown to prefer and thrive in structured, predictable environments.27 • Functional approach to behavior. Current research recommends using positive behavior support to identify the function of a problem behavior and teach new skills to replace the challenging behavior with a new socially appropriate skill or communication method.30

Evidence of Effectiveness Two major research studies have examined the effectiveness of interventions for children with ASD. The National Standards Project,87 in an update of its 2009 systematic review of the effectiveness research, categorized and described interventions used for children with ASD that were found to be effective for improving behavior, communication, social skills, and other skills (i.e., motor) important for participation. Teams providing services

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to children with ASD should be aware of these reviews to assist families in making intervention decisions. Many intervention components are described in these reviews that, although not considered traditional physical therapy techniques, are certainly strategies used within a comprehensive treatment session—for example, modeling, practice, prompting, schedules, parent training, and natural environments. Additionally, a strategy often used by physical therapists serving children with ASD, sensory integration, is categorized as an unestablished treatment. The following categories are used for describing levels of evidence: • Established: These interventions have sufficient evidence to confidently determine that they produce beneficial treatment effects. • Emerging: One or more studies have suggested that these interventions will produce beneficial treatment effects, but further study on effectiveness is needed. • Unestablished: There is little or no evidence to support the use of these intervention strategies (Table 24.4). The National Professional Development Center on ASD29 reviewed the literature and found 27 intervention strategies met its criteria for evidence-based practice. This review also described strategies that are effectively incorporated into a physical therapy session. For example, in addition to the strategies described by the National Standards Project, the National Professional Development Center on ASD described task analysis, extinction, visual supports, and reinforcement as evidence based. It is clear from these reviews that service providers should focus their attention on the components of the models rather than the model in its entirety. Physical therapists incorporate these interventions within a comprehensive physical therapy session. For example, within a preschool program a PT may lead a small motor group intervention session that promotes the acquisition of developmental motor skills. To be most effective, the PT would incorporate strategies such as modeling, extinction, peer teaching, prompting, and time delay, thereby supporting what Bhat, Landa, and Galloway16 described as multisystem physical therapy intervention for children with ASD. Research, however, has examined the effects of specific motor interventions used to

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improve developmental and functional skills as well as behavior. The next section discusses two types of motor-based interventions often used by physical therapists in a comprehensive intervention approach for children with autism. TABLE 24.4 Interventions for Children Under 22 Years of Age With Autism Spectrum Disorder (National Standards Project, 2015)

From National Autism Center: Findings and conclusions: National Standards Project, Phase 2. Retrieved on May 2, 2015, from http://www.nationalautismcenter.org/national-standards-project/phase-2/.

Motor Specific Interventions Exercise and physical activity Children with autism demonstrate delays in motor skill development, impairments in motor skill performance, and recent reports indicate increasing rates of obesity114 in addition to sensory processing difficulties, poor social skills, difficulty communicating, and behavioral challenges. Like children with other types of developmental disabilities, children with ASD participate in more sedentary activities or individual physical activities (i.e., swimming), limiting the social components of group or team-based activities.110 Research on the effectiveness of exercise and physical activity is limited and has focused primarily on changes in behavioral or social interactions. Lang et al.67 conducted a systematic review of 18 research studies that incorporated exercise as a treatment for children with ASD (ages 4 to 20 years). Findings indicate that exercise was effective in decreasing stereotypic

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behaviors, aggression, off-task behavior, and elopement and an increase in on-task behavior and improvement in motor skill acquisition. Various exercise programs were used such as weight training, aerobic exercise, bike riding, and jogging. Although promising, these results must be interpreted with caution as the number of participants across the 18 studies was low (n = 64), most of the research designs were single-subject or within-subject designs, and the programs combined exercise with other behavioral interventions such as reinforcement, prompting, and modeling, all which have been shown to be effective practices. Sowa and Meulenbroek’s meta-analysis of the effects of exercise for children and adults indicated similar findings.110 Additionally, they found that individual rather than group interventions were more successful. Again, in a one-to-one situation, other behavioral strategies may have affected the outcomes. Because of the lack of information on the effect of exercise on cardiovascular and musculoskeletal fitness and weight management, Srinivasan, Pescatello, and Bhat114 recommended that this is a rich opportunity for physical therapists to increase involvement. As exercise specialists, physical therapists are in the ideal position to ensure that exercise and physical activity are included in a comprehensive intervention program. It is necessary to systematically collect data and use specific measures to assess physical fitness. One exercise that shows promise for children with autism is swimming. Physical therapists have used aquatics as a therapeutic strategy for many years, thus they are in an ideal position to design programs and determine the effectiveness of aquatic programs for children with ASD. Although limited, research on the effectiveness of swimming on children with ASD appears promising. Pan conducted a series of experiments testing the effectiveness of swimming on improving aquatic skills,92 physical fitness,91,92 and social behaviors91 in young children with ASD. The findings from his most recent study, which involved 23 children with ASD and their typically developing siblings, indicate that children with ASD and their siblings without ASD improved on a variety of parameters following a 14-week aquatic program. As compared to other studies that incorporated

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swimming into the methodology, this program focused on the principles of motor learning and physical fitness. All groups demonstrated improvement in swimming skills as well as physical fitness as tested by strength, flexibility, and endurance. There was no positive effect on body composition as assessed by body mass index nor were the results long lasting, however. As previously recommended, this study incorporated a goal-directed, structured curriculum that taught skills in a progressive fashion. Additionally, the program’s dosage was at a level from which change was more likely to occur: frequent (twice weekly), intense (60-minute sessions), and long duration (14-week time period.) Because the positive changes were not sustained, it is recommended that providers help children adopt a healthy active lifestyle rather than only providing limited program-specific interventions. Physical therapists are ideally positioned to support families in adopting lifestyle changes and advocating for a variety of community-based opportunities to help families and children maintain active lifestyles throughout the life span.

Sensory processing intervention As discussed previously, many children with ASD demonstrate sensitivity to sensory input and have been identified with sensory processing dysfunction,123 dyspraxia,76 and incoordination.47 A variety of strategies have been used with the intention of improving sensory-based impairments with limited, if any, effectiveness.21,99 These ineffective strategies include (1) weighted vests and other compression garments used to provide proprioceptive input and calming to increase attention, concentration, and focus; (2) brushing and sensory diets131 to increase tolerance to tactile input, increase focus, and improve organization; (3) fidget and fiddle toys to help sustain attention and concentration; and (4) Auditory Integration and Therapeutic Listening programs.108 Although sensory impairment remediation focused interventions have not been shown to be effective, Dunn and colleagues37 have indicated that sensory-based symptomatology that prevents functional behaviors can be effectively addressed through management strategies such as adapting tasks, environments, and routines. Based on Dunn’s model of sensory processing,35 Dunn and

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colleagues improved parental competence and child outcomes through contextually based interventions that focused on managing the detrimental effects of sensory processing symptoms in young children with ASD.37 Parents were provided coaching within the naturally occurring context that they identified as problematic. Contexts were primarily the home and the community. Therapists used the findings from the family-completed Sensory Profile 236 to determine sensory strengths or barriers to accomplishment of the functional skill desired. The therapists coached families to identify strengths-based solutions to promote outcome attainment rather than telling the family what to do. This study illustrates that using information from tools like the Sensory Profile 2 to help families identify solutions to family-identified outcomes may be an effective strategy to produce functional change.

Outcome Measures and Clinical Decision Making Regarding Response to Physical Therapy Intervention After intervention strategies are selected and implemented, providers must continue to collect data and monitor the child’s progress toward achieving the outcomes. Physical therapists conduct ongoing assessment to determine if any changes or modifications need to be made to their intervention plan. Data collection plans should consider the following: • Use data to monitor progress and troubleshoot intervention approaches. • Link assessment results to intervention by using them to guide and plan what skills to promote. • Consider several intervention methods while remembering that no single approach will be right for every child. Some children may benefit from a combination of methods. • Provide data indicating the effectiveness of the interventions used. • Observe and record data consistently. Consider different approaches when the data indicate that the child is not progressing or succeeding. • Collect information regarding the family’s perspective on the

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child’s success. Ask the family members how they see the child progressing. Measuring effectiveness of intervention using goal attainment scaling (as described in Chapter 2) may be helpful when working with children who have complex needs. Schaaf, Benevides, Kelly, and Mailloux-Maggio105 found that goal attainment scaling was useful for linking changes in function/participation to changes in sensory processing as a result of a sensory integration–based therapeutic program for children with ASD. Using goal attainment scaling, the Canadian Occupational Performance Measure, and the Parent Sense of Competence as outcome measures, Dunn and colleagues37 found that a sensory processing–based family coaching intervention improved parent competence and children’s participation in everyday activities.

Determining Intervention Dosage: Type, Intensity, and Frequency Providers and families often have questions and concerns about the type, frequency, and intensity of services delivered. The type, frequency, and intensity of intervention should be individualized to meet the needs of the child and family. Five evidence-based factors have been identified to assist providers and families as they determine services for children with ASD26: 1. Intensity. Intensity refers to the amount of service provided and is often conceptualized by families and providers as number of hours of direct service. Research suggests that true intensity may be better measured by the child’s level of engagement in everyday routines and activities as engagement is a powerful predictor of developmental growth.80,116 Rather than thinking about the number of hours on a program plan (IFSP, IEP, PT Plan of Care) the team should consider whether or not the strategies and services are sufficient to influence the child’s engagement across all daily routines and meet the outcomes or goals established. 2. Fidelity of intervention delivery. When selecting an evidence-based intervention, the team should examine what experience the provider has with the approach and whether or not the provider has a method to determine if the intervention is being correctly implemented and a plan if the outcomes are not achieved.

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Providers may need additional training, support, and supervision to reach the fidelity of a specific method. 3. Social validity of outcomes. Social validity refers to the degree in which there is an impact on the child’s social participation in life when a particular outcome has been met. For example, teaching a toddler to walk up three steps in the clinic only to turn around at the top to come back down would have low social validity compared to teaching the same toddler to walk up the carpeted stairs at home to get to a playroom. In the latter case, the child’s new knowledge can directly control the environment and meet immediate needs. Therefore, this activity would have high social validity.7,88 4. Comprehensiveness of intervention. Research on intervention for children with ASD suggests that progress in one developmental domain has minimal impact on other domains.75,118 These findings have been widely replicated and strongly support a comprehensive program plan design that addresses all relevant domains of performance for the child and family.77

FIG. 24.1 Three-tiered intervention model.

5. Data-based decision making. An important component to effective

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intervention is to collect and monitor data to inform decisionmaking strategies and optimize the delivery of effective services.59 In addition to considering the preceding five factors, there are further considerations that impact the decisions regarding type, frequency, and intensity of services, which include the following: • Outcomes identified by the team • Child’s age • Total hours of engagement the family currently implements • Developmental profile of the child • Learning characteristics of the child • Child’s previous involvement in intervention • Family’s availability for level of service including daily routines of the child and family • Quality and quantity of concerning behaviors Members of the team collaborating with the family decide the type of service and the frequency and intensity of the service necessary to meet the team-developed outcomes. The team will include a variety of people depending on the age of the child and the system delivering the services, but no matter the system, the family is a team member and the family’s opinions are equal to those of other team members. Team decision making requires that all members share information, and decisions are reached through consensus based on what will best meet the outcomes and expectations deemed beneficial to the child, not based on any one member’s opinions, desires, or administrative constraints. The roles of team members may vary depending on the system. Ultimately, the decision regarding frequency and intensity should be based on whatever is necessary to help the child achieve the identified outcomes. It is imperative that teams identify relevant outcomes and objectively monitor the progress. The Academy of Pediatric Physical Therapy of the American Physical Therapy Association has three key documents that may be helpful in determining the dosage of physical therapy across a variety of intervention environments school-based services, acute care, outpatient; (Academy of Pediatric Physical Therapy, 2014, 2013, 2012). Although these documents are not written specifically for children with ASD, therapists may find them helpful for decision making. Physical therapists collaborating with family

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members and other team members use these documents, the five evidence-based factors, and the individual family and child characteristics to design program plans and implement therapeutic strategies at a level of intensity, frequency, and duration to influence the attainment of outcomes. The dosage of therapeutic input will change over time due to the changing capacities of the child, the child and family’s involvement in services and support in addition to physical therapy, and the family’s constraints. Outcome-driven, family-centered physical therapy balances the shifting needs, concerns, and priorities of the family and child.

Tiered Levels of Intervention A tiered intervention model (Fig. 24.1) for children with ASD to support developmental, functional, and social skill acquisition and to limit the impact of atypical or problematic behaviors is promoted26,104: • Level 1 describes general experiences and supports that are reasonable for any child with ASD, regardless of the child’s abilities. • Level 2 involves strategies designed to enhance a child’s behavioral competences and prevent problem behaviors. Level 2 is used when strategies from level 1 are insufficient to meet the child’s needs. • Level 3 strategies are used when problem behaviors have developed to the point that they have become obstacles to learning and healthy social emotional development. Level 3 consists of procedures that are most readily associated with problem behavior interventions. Table 24.5 provides a detailed explanation of the three tiers as depicted in Fig. 24.1. The three-tiered model shows that an early emphasis on prevention has the potential to influence a child’s development of more positive social behaviors and prevent the occurrence of severe problem behaviors. Additionally, the model implies that a strong foundation of level 1 and level 2 strategies will reduce the need for more labor-intensive interventions at level 3. TABLE 24.5

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Description of Tiered Levels of Intervention

Lifelong Implications and the Role of Physical Therapy Transition to Adulthood The transition from adolescence to adulthood can be difficult for people with ASD. Unlike early intervention or school system services, adult systems often do not utilize a service coordination model, making it difficult for families to become aware of available programs and to synchronize services between programs. Young adults with ASD were 3 to 14 times more likely to be socially isolated than young adults with an intellectual disability, emotional disturbance, or learning disability.90 Physical therapists working with adolescents with ASD should talk with the teenager and family about plans for education or employment after high school graduation and refer them to appropriate resources to help achieve their goals. Early involvement with transition and employment programs is key to a successful transition.78

Summary Many opportunities exist for physical therapists to help children with ASD achieve optimal outcomes throughout the life span. Physical therapists should be aware of the signs of ASD and refer the family for diagnostic evaluation as necessary. In addition, incorporating appropriate behavior strategies and current evidencebased interventions for children with ASD into physical therapy interventions is imperative to meet outcomes.

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Case Scenario on Expert Consult The case related to this chapter presents Micah, a 30-month-old child, and illustrates some of the management principles discussed in this chapter.

Behavioral Applied Behavior Analysis (ABA) ABA-based interventions have been shown to improve a wide variety of skills across all areas of development. Tasks are broken down into discrete trials and then coupled with reinforcement to build positive behaviors. ABA is usually administered with low adult–child ratios and can be done at home, in a classroom, or in the community. Intervention is usually intense (25–40 hours a week) and consists of individualized targeting of skills. Parents are trained to become active co-teachers. Strong evidence exists to support the use of ABA-based interventions in children over the age of 3.112,127

Differential Reinforcement A form of ABA, this approach is used to increase the occurrence of desired, functional behaviors using rewards. Interfering behaviors decrease because they are not reinforced. Evidence exists to support the use of differential reinforcement in children over 4 years of age.66

Discrete Trial Training (DTT) DTT is a one-on-one approach that is used to teach skills that are best taught in steps. Positive praise or rewards are used to reinforce the behavior or desired skill. Practitioners collect data to determine progress and challenges, skill acquisition, and generalization of skills. Evidence suggests that DTT is beneficial for children between 2 to 9 years of age.45

Schedules

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Schedules can assist with managing challenging behavior by providing a visual learning strategy as well as making a routine more predictable. Schedules may consist of photographs, line drawings, three-dimensional objects, or icons. This method is flexible and may consist of a schedule for an entire day or for a specific event. They may also be used in a single place such as the classroom or may travel with a child between places within the community. Schedules are an established intervention for children ages 3 to 14.87

Self-Management Self-management interventions teach children with ASD to regulate their behavior by recording when the target behavior does or does not occur. The child with ASD independently seeks or delivers reinforcers. Self-management may involve the use of checklists, visual prompts, tokens, or wrist counters. Selfmanagement is an established intervention for children 3 to 18 years old. Studies have shown improvements in interpersonal skills and self-regulation.87

Communication Augmentative and Alternative Communication (AAC) A variety of AAC approaches are used to improve the social and communication skills of individuals with autism. Approaches such as the use of gestures, sign language, and facial expressions are classified as unaided AAC. The use of pictures, symbols, or written cues and the use of tools such as speech-generating devices are classified as aided AAC. Research suggests that speech-generating devices have been used to teach requesting skills.126 AAC is considered an emerging intervention for children 3 to 9 years of age with ASD.87

Hanen Program The Hanen Program for Parents of Children with Autism Spectrum Disorders, also known as More Than Words, is a program for families of children with ASD who are under the age of 5. The program focuses on teaching families to become the primary facilitator of their child’s communication and

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language development. Families using this approach maximize the child’s opportunities to develop communication skills through everyday situations. Preliminary studies have shown that the More Than Words program may enhance early language skills, positively impact parent–child interactions, and increase social interaction.119

Picture Exchange System (PECS) The PECS is one type of unaided AAC. This approach consists of using pictures as a means for individuals with autism to communicate. PECS is considered an emerging intervention for children 0 to 9 years of age.87

Educational Learning Experiences and Alternative Program for Preschoolers and Their Parents (LEAP) LEAP is an inclusive educational program where children with autism are included with peers who are typically developing. The model teaches the child’s peers to facilitate the social and communicative behaviors of children with autism. ABA, peermediated instruction, incidental teaching, self-maintenance training, and parent training strategies are all incorporated into the LEAP model.117

Naturalistic Teaching Strategies Naturalistic teaching strategies teach functional skills in the environment using child-directed interactions. Interventions may include modeling how to play, providing choices, encouraging conversation, or providing a stimulating environment. Naturalistic teaching is an established intervention for ASD. It has been shown to improve communication, interpersonal skills, learning readiness, and play skills.87

Pivotal Response Training (PRT) PRT is an educational intervention designed to target “pivotal” behavioral areas. These areas include motivation to engage in social communication, self-management, and responsiveness to multiple cues. PRT also focuses on family involvement and

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intervention in the natural environment. PRT is an established intervention for children with ASD ages 3 to 9. It has been shown to improve communication, interpersonal skills, and play skills.87

Social Communication Emotional Regulation Transactional Supports (SCERTS) SCERTS is a multidisciplinary, comprehensive educational model used to improve function in children with ASD. The model is used to increase participation in developmentally appropriate activities within a variety of settings by achieving “authentic progress.” Authentic progress is defined as “the ability to learn and spontaneously apply functional and relevant skills in a variety of settings and with a variety of partners.” The SCERTS model can be also combined with other approaches.94

Treatment and Education of Autistic and Related Communication-Handicapped Children (TEACCH) TEACCH is a comprehensive educational program designed to help children develop key life skills used for independent living. TEACCH is based on the idea that all individuals with ASD have similar neuropsychological deficits as well as strengths. The model uses “structured teaching,” based on understanding the learning characteristics of children with ASD and the use of visual supports to promote independence. TEACCH can be done in all settings, including the home and classroom.121

Relationship Based Developmental, Individual Difference, RelationshipBased Model (DIR) The DIRFloortime model focuses on building healthy foundations for social, emotional, and intellectual capacities rather than focusing on skills and isolated behaviors. Parents, educators, and clinicians work together to conduct a comprehensive assessment and to develop an intervention program specific to the strengths and challenges of the child

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with ASD. The developmental part of the model focuses on six developmental milestones (self-regulation and interest in the world; intimacy, engagement, and falling in love; two-way communication; complex communication; emotional ideas; and emotional and logical thinking) that are necessary for healthy emotional and intellectual growth. The individual differences section examines the biologic challenges that are unique to the child. These may include processing issues that are interfering with the child’s ability to learn. The relationship part of the DIR model refers to learning how to develop relationships with caregivers, peers, educators, and therapists whose affect-based interactions are tailored to the child’s individual differences and developmental capacities.32

Early Start Denver Model (ESDM) The Early Start Denver Model focuses on increasing the child’s social-emotional, cognitive, and language skills. This approach combines behavioral and relationship-based intervention with a developmental, play-based approach that is individualized and standardized. Intervention is provided in the home by trained therapists and takes place within naturally occurring routines. Parents and caregivers are involved in all aspects of this treatment approach.40

Joint Attention Intervention Joint attention interventions teach a child to respond to the nonverbal social communication of others or to initiate joint attention interactions. This may include showing items to another person, following eye gaze, or pointing to objects. Joint attention intervention is an established treatment approach to ASD for children 0 to 5 years of age. Studies have shown benefits in the areas of communication and interpersonal skills.87

Modeling Modeling is a type of intervention in which an adult or peer demonstrates a target behavior for an individual with ASD and encourages the individual to imitate it. This approach is often combined with other strategies such as prompting and

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reinforcement. This intervention may involve live or video modeling. Modeling is an established intervention for children 3 to 18 years of age with ASD. Studies have shown improvements in communication, cognitive skills, interpersonal skills, self-regulation, and personal responsibility. Decreases in problem behaviors have also been noted in research.87

Play and Language for Autistic Youngsters (PLAY Project) The PLAY project is based on the principles of the DIR model and aims to help parents become their child’s best PLAY partner. The program is designed to be used with children 18 months or older. PLAY is administered at least 25 hours per week and uses a one-on-one approach.122

Relationship Development Intervention (RDI) RDI is a cognitive-developmental approach in which the parents or caregivers are trained to provide daily opportunities for successful functioning. The approach is taught to families by trained consultants, beginning with 6 days of intensive training and followed by weekly or biweekly meetings with reevaluation at 6 months. RDI is most appropriate for children younger than 9 years of age without intellectual disabilities.95

Sensory-Motor Alert The Alert program focuses on teaching children to recognize their body’s state of alertness and how it can be regulated to be appropriate for the current situation and environment. Children learn how to self-regulate their state of arousal while parents and teachers learn how to promote these behaviors. The Alert program can be used for children of all ages with sensory processing disorders and is often done in conjunction with sensory diet.132

Sensory Diet A sensory diet is an individualized activity plan designed to provide the specific sensory input a child needs during the day. The goal of a sensory diet is to help children to tolerate

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different sensations, regulate their alertness, increase attention span, limit sensory seeking behaviors, and handle transitions with less stress by reorganizing the nervous system.11

Sensory Integration Sensory integration intervention focuses on creating an environment that challenges children to use all of their senses effectively. The goal of sensory integration therapy is to address overstimulation or understimulation from the environment. Some studies suggest sensory integration intervention may improve play performance, enhance social interaction, and decrease sensitivity.11 Sensory integration is considered an unestablished intervention because research findings have been inconsistent or do not apply to children with ASD.87

Pharmacologic Interventions These interventions are generally used in children with ASD to control or improve attention, obsessive-compulsive behaviors, tantrums, irritability, self-injury, or aggression. There are varying levels of evidence for the use and effectiveness of medications for children with ASD. Decisions to use medications are made by the family in consultation with the primary care provider, and they may be used in combination with other interventions. Interventions include the following categories of medications: anticonvulsants, antidepressants, antipsychotics, and stimulants.

Dietary Interventions Dietary interventions for ASD include the Defeat Autism Now (DAN) protocol gluten- and casein-free diets, and omega-3 fatty acids. There is little evidence that these dietary interventions are effective in promoting skills or positively impacting behavior or symptoms for children with ASD. Families may ask questions about or have an interest in trying these interventions. It is important to have an open discussion about the use of these interventions, the minimal evidence to support them, and the benefits, risks, and costs that may be associated with their use for their individual child. Families should

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consult their health care providers before beginning any dietary intervention.

References 1. Akins R.S, et al. Complementary and alternative medicine in autism: an evidence-based approach to negotiating safe and efficacious interventions with families. Neurotherapeutics. 2010;7:307–319. 2. Ament K, et al. Evidence for specificity of motor impairments in catching and balance in children with autism. J Autism Dev Disord. 2015;45:742–751. 3. American Speech and Hearing Association. Ad Hoc Committee on Service Delivery in the Schools: definitions of communication disorders and variations. 1993 Available from:. http://www.asha.org/policy/RP1993-00208.htm. 4. Antshel K, Hier B. Attention deficit hyperactivity disorder (ADHD) in children with autism spectrum disorders. In: Comprehensive guide to autism. New York: Springer; 2014:1013–1029. 5. Reference deleted in proofs. 6. Autism spectrum disorder. In: Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Association; 2013:50–51. 7. Bagnato S.J, et al. Authentic assessment as “best practice” for early childhood intervention: national Consumer Social Validity Research. Topics Early Child Spec Educ. 2014;34:116– 127. 8. Bailey A, et al. A clinicopathological study of autism. Brain. 1998;121(Pt 5):889–905. 9. Baranek G.T, et al. Sensory experiences questionnaire: discriminating sensory features in young children with autism, developmental delays, and typical development. J Child Psychol Psychiatry. 2006;4:591–601. 10. Baranek G.T. Autism during infancy: a retrospective video analysis of sensory-motor and social behaviors at 9-12 months of age. J Autism Dev Disord. 1999;29:213–224.

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11. Baranek G.T, et al. Efficacy of sensory and motor interventions for children with autism. J Autism Dev Disord. 2002;32:397–422. 12. Barrow W, et al. Persistent toe walking in autism. J Child Neurol. 2011;26:619–621. 13. Bayley N. Bayley scales of infant and toddler development III. San Antonio, TX: Psychological Corporation; 2006. 14. Ben-Sasson A, et al. A meta-analysis of sensory modulation symptoms in individuals with autism spectrum disorders. J Autism Dev Disord. 2009;39:1–11. 15. Berg C, LaVesser P. The preschool activity card sort. OTJR: Occupation, Participation, Health. 2006;26:143–151. 16. Bhat A.N, et al. Current perspectives on motor functioning in infants, children, and adults with autism spectrum disorders. Phys Ther. 2011;91:1116–1129. 17. Blumberg S.J, et al. Changes in prevalence of parentreported autism spectrum disorder in school-aged US children: 2007 to 2011-2012. Natl Health Stat Report. 2013;65:1–12. 18. Bolte S, et al. The social communication questionnaire (SCQ) as a screener for autism spectrum disorders: additional evidence and cross-cultural validity. J Am Acad Child Adolesc Psychiatry. 2008;47:719–720. 19. Bruininks R, Bruininks B. Bruininks-Oseretsky test of motor proficiency. ed 2. Minneapolis, MN: NCS Pearson; 2005. 20. Reference deleted in proofs. 21. Case-Smith J, et al. A systematic review of sensory processing interventions for children with autism spectrum disorders. Autism. 2015;19:133–148. 22. Centers for Disease Control and Prevention: facts about AUTISMs. 2012 Retrieved on May 3, 2015, from:. http://www.cdc.gov/ncbddd/autism/facts.html. 23. Centers for Disease Control. Prevalence of autism spectrum disorder among children aged 8 years: Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010, Surveill Summ. 2014:1–21. 24. Chawarska K, et al. 18-month predictors of later outcomes in younger siblings of children with autism spectrum

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disorder: a baby siblings research consortium study. J Am Acad Child Adolesc Psychiatry. 2014;53:1317–1327. 25. Childress D.C, et al. Infants and toddlers with autism spectrum disorder. In: Raver S.A, Childress D.C, eds. Family centered early intervention. Baltimore, MD: Brookes Publishing; 2015:190–210. 26. Connecticut Birth to Three System. Autism spectrum disorder intervention guidance for service providers. 2011 Retrieved May 3, 2015, from. http://www.birth23.org/files/SGsPlus/SG1ASDSpectrum. DisoderAutism.pdf. 27. Corsello C.M. Early intervention in autism. Infants Young Child. 2005;18:74–85. 28. Coster W, et al. School function assessment. San Antonio, TX: Pearson; 1988. 29. Cox A.W, et al. National Professional Development Center on ASD: an emerging national educational strategy. Autism Services Across America; 2013:249–266. 30. Crosland K, Dunlap G. Effective strategies for the inclusion of children with autism in general education classrooms. Behav Modif. 2012;36:251–269. . 31. Daniels A.M, et al. Approaches to enhancing the early detection of autism spectrum disorders: a systematic review of the literature. J Am Acad Child Adolesc Psychiatry. 2014;53:141–152. 32. DIR and the DIRFLoortime Approach. Retrieved May 3, 2015, from: http://www.icdl.com/DIR. 33. Downey R, Rapport M.K. Motor activity in children with autism: a review of the current literature. Pediatr Phys Ther. 2012;24:2–20. 34. DSM-5 Autism Spectrum Disorder Fact Sheet: retrieved on June 8, 2013, from: http://www.dsm5.org/Documents/Autism Spectrum Disorder Fact%20Sheet.pdf. 35. Dunn W. The impact of sensory processing abilities on the daily lives of young children and their families: a conceptual model. Infants Young Child. 1997;9:23–35. 36. Dunn W. Sensory profile 2. San Antonio, TX: Pearson

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Clinical; 2014. 37. Dunn W, et al. Impact of a contextual intervention on child participation and parent competence among children with autism spectrum disorders: a pretest-posttest repeatedmeasures design. Am J Occup Ther. 2012;66:520–528. 38. Dunst C.J, et al. Family capacity-building in early childhood intervention: do context and setting matter? School Community J. 2014;24:37–48. 39. Reference deleted in proofs. 40. Early Start Lab. Retrieved on May 3, 2015, from: http://www.ucdmc.ucdavis.edu/mindinstitute/research/esdm/ 41. Enticott P.G, et al. Mirror neuron activity associated with social impairments but not age in autism spectrum disorder. Biol Psychiatry. 2012;71:427–433. 42. Esposito G, et al. Analysis of unsupported gait in toddlers with autism. Brain Dev. 2011;33:367–373. 43. Farley M.A, et al. Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Res. 2009;2:109–118. 44. Fatemi S.H, et al. Consensus paper: pathological role of the cerebellum in autism. Cerebellum. 2012;11:777–807. 45. Fleury VP: Discrete trial teaching (DTT) fact sheet. Chapel Hill: the University of North Carolina, Frank Porter Graham Child Development Institute, The National Professional Development Center on Autism Spectrum Disorders. Retrieved May 12, 2015, from: http://autismpdc.fpg.unc.edu/sites/autismpdc.fpg.unc.edu/files/DTT_fa 46. Folio M.R, Fewell R.R. Peabody developmental motor scales. ed 2. Austin, TX: Pro-Ed; 2000. 47. Fournier K, et al. Motor coordination in autism spectrum disorders: a synthesis and meta-analysis. J Autism Dev Disord. 2010;40:1227–1240. 48. Frankenburg W.K, et al. Denver II. Denver, CO: Denver Developmental Materials; 1990. 49. Gotts S, et al. Fractionation of social brain circuits in autism spectrum disorders. Brain. 2012;135:2711–2725. 50. Green D, et al. Impairment in movement skills of children with autistic spectrum disorders. Dev Med Child

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Neurol. 2009;51:311–316. 51. Guevara J, et al. Effectiveness of developmental screening in an urban setting. Pediatrics. 2013;131:30–37. 52. Gupta S, et al. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activitydependent genes in autism. Nat Commun. 2014;5:1–8. 53. Hallmayer J, et al. Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry. 2011;68:1095–1102. 54. Henderson S.E, et al. In: Movement assessment battery for children. San Antonio, TX: Pearson Clinical, 2007; 2007. 55. Hurth J, et al. Areas of agreement about effective practices among programs serving young children with autism spectrum disorders. Infants Young Child. 1999;12:17–26. 56. Hyman S, Levy S. Autism spectrum disorders. In: Batshaw M, et al., ed. Children with disabilities. ed 7. Baltimore, MD: Paul H. Brookes; 2013:345– 367. 57. Iovannone R, et al. Effective educational practices for students with autism spectrum disorders. Focus Autism Other Dev Disabl. 2003;18:150–165. 58. Reference deleted in proofs. 59. Jimenez B.A, et al. Data-based decisions guidelines for teachers of students with severe intellectual and developmental disabilities. Educ Train Autism Dev Disabil. 2012:407–413. 60. Johnson C.P, et al. Identification and evaluation of children with autism spectrum disorders. Pediatrics. 2007;120:1183– 1215. 61. Just M.A, et al. Autism as a neural systems disorder: a theory of frontal-posterior underconnectivity. Neurosci Biobehav Rev. 2012;36:1292–1313. 62. Kasari C, Smith T. Interventions in schools for children with autism spectrum disorder: methods and recommendations. Autism. 2013;17:254–267. 63. King G, et al. Children’s Assessment of Participation and Enjoyment (CAPE) and Preferences for Activities of Children (PAC). San Antonio, TX: Harcourt Assessment; 2004.

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64. Kotagal S, Broomall E. Sleep in children with autism spectrum disorder. Pediatr Neurol. 2012;47:242–251. 65. Kramer J.M, et al. Validity, reliability, and usability of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test for autism spectrum disorders. Dev Med Child Neurol. 2016;58:255–261. 66. Kucharczyk S. Differential reinforcement of alternative, incompatible, or other behavior (DRA/I/O) fact sheet. Chapel Hill, NC: The University of North Carolina; 2013 Frank Porter Graham Child Development Institute, The National Professional Development Center on Autism Spectrum Disorders. Retrieved May 12, 2015, from:. http://autismpdc.fpg.unc.edu/sites/autismpdc.fpg.unc.edu/files/D 67. Lang R, et al. Physical exercise and individuals with autism spectrum disorders: a systematic review. Res Autism Spectr Disord. 2010;4:565–576. 68. Law M, et al. Canadian occupational performance measure. ed 4. Toronto: Canadian Association of Occupational Therapists; 2005. 69. Lee B.H, et al. Autism spectrum disorder and epilepsy: disorders with a shared biology. Epilepsy Behav. 2015;47:191–201. 70. Levy S.E, et al. Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. J Dev Behav Pediatr. 2010;31:267–275. 71. Libero L.E, et al. Multimodal neuroimaging based classification of autism spectrum disorder using anatomical, neurochemical, and white matter correlates. Cortex. 2015;66:46–59. 72. Long T, Brady R. Contemporary practices in early intervention for children birth through five: a distance learning curriculum. Washington, DC: Georgetown University; 2012 Available at. teachingei.org. 73. Reference deleted in proofs. 74. Reference deleted in proofs. 75. Lovaas O.I. Behavioral treatment and normal education and intellectual functioning in young autistic children. J Consult

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Clin Psychol. 1987;53:3–9. 76. MacNeil L.K, Mostofsky S.H. Specificity of dyspraxia in children with autism. Neuropsychology. 2012;26:165–171. 77. Magiati I, et al. Patterns of change in children with autism spectrum disorders who received community based comprehensive interventions in their pre-school years: a seven year follow-up study. Res Autism Spectr Disord. 2011;5:1016–1027. 78. McDonough J.T, Revell G. Accessing employment supports in the adult system for transitioning youth with autism spectrum disorders. J Vocat Rehabil. 2010;32:89–100. 79. McQuistin A, Zieren C. Clinical experiences with the PDDST-II. J Autism Spectrum Disord Devel Disord. 2006;36:577–578. 80. McWilliam R.A, et al. The routines-based interview: a method for assessing needs and developing IFSPs. Infants Young Child. 2009;22:224–233. 81. Miller L.J, Lane S.J. Toward a consensus in terminology in sensory integration theory and practice: part 1: taxonomy of neurophysiological processes. Sensory Integration Special Interest Sect Q. 2000;23:1–4. 82. Miller L.J, Summers C. Clinical applications in sensory modulation dysfunction: assessment and intervention considerations. Understanding the nature of sensory integration with diverse populations. 2001:247–274. 83. Miller L.J. Miller function and participation scales. San Antonio, TX: Pearson Clinical; 2006. . 84. Miller L.J, et al. Concept evolution in sensory integration: a proposed nosology for diagnosis. Am J Occup Ther. 2007;61:135–140. 85. Miller V.A, et al. Factors related to parents’ choices of treatments for their children with autism spectrum disorders. Res Autism Spectr Disord. 2012;6:87–95. 86. Nair A, et al. Impaired thalamocortical connectivity in autism spectrum disorder: a study of functional and anatomical connectivity. Brain. 2013;136:1942–1955. 87. National Autism Center: Findings and conclusions: national Standards Project, Phase 2. Retrieved on May 2, 2015, from:

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http://www.nationalautismcenter.org/national-standardsproject/phase-2/. 88. Noyes-Grosser D.M, et al. Conceptualizing child and family outcomes of early intervention services for children with ASD and their families. J Early Interv. 2013;35:332–354. 89. Odom S, et al. Moving beyond the intensive behavior treatment versus eclectic dichotomy evidence-based and individualized programs for learners with ASD. Behav Modif. 2012;36:270–297. 90. Orsmond G.I, et al. Social participation among young adults with an autism spectrum disorder. J Autism Spectr Disord Dev Disord. 2013;43:2710–2719. 91. Pan C.Y. Effects of water exercise swimming program on aquatic skills and social behaviors in children with autism spectrum disorders. Autism. 2010;14:9–28. 92. Pan C.Y. The efficacy of an aquatic program on physical fitness and aquatic skills in children with and without autism spectrum disorders. Res Autism Spectr Disord. 2011;5:657–665. 93. Phillips K.L, et al. Prevalence and impact of unhealthy weight in a national sample of US adolescents with autism and other learning and behavioral disabilities. Matern Child Health J. 2014;18:1964–1975. 94. Prizant B.M, et al. The SCERTS model and evidence-based practice. 2010 Retrieved on May 2, 2015, from. http://www.scerts.com/docs/scerts_ebp%20090810%20v1.pdf 95. RDI Connect: Retrieved on May 3, 2015, from: http://www.rdiconnect.com/. 96. Reynolds S, et al. Sensory processing, physiological stress, and sleep behaviors in children with and without autism spectrum disorders, OTJR: Occupation. Participation Health. 2012;32:246–257. 97. Rizzolatti G, Fabbri-Destro M. Mirror neurons: from discovery to autism. Exp Brain Res. 2010;200:223–237. 98. Robins D.L, et al. The modified checklist for autism spectrum disorder in toddlers: an initial study investigating the early detection of ASD and pervasive developmental disorders. J Autism Spectr Disord Dev Disord. 2001;31:131–

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144. 99. Rodger S, Polatajko H.J. Occupational therapy for children with autism. In: Comprehensive guide to autism. New York: Springer; 2014:2297–2314. 100. Rogers S.J, et al. Autism treatment in the first year of life: a pilot study of infant start, a parent-implemented intervention for symptomatic infants. J Autism Spectr Disord Dev Disord. 2014;44:2981–2995. 101. Roley S.S, et al. Sensory integration and praxis patterns in children with autism. Am J Occup Ther. 2015;69 6901220010p1–6901220010p8. 102. Reference deleted in proofs. 103. Rutter M, et al. Autism spectrum disorder diagnostic interview —revised. Torrance, CA: Western Psychological Services; 2003. 104. Sansosti F.J. Teaching social skills to children with autism spectrum disorders using tiers of support: a guide for school-based professionals. Psychol in Schools. 2010;47:257– 281. 105. Schaaf R.C, et al. Occupational therapy and sensory integration for children with autism: a feasibility, safety, acceptability and fidelity study. Department of Occupational Therapy Faculty Papers, paper. 2012;13. http://jdc.jefferson.edu/otfp/13. 106. Schopler E, et al. Childhood autism spectrum disorder rating scale. ed 2. Torrance, CA: Western Psychological Services; 2010. 107. Reference deleted in proofs. 108. Sinha Y, et al. Auditory integration training and other sound therapies for autism spectrum disorders. Cochrane Database Syst Rev. 2004 CD003681. 109. Snow A.V, Lecavalier L. Sensitivity and specificity of the modified checklist for autism spectrum disorder in toddlers and the social communication questionnaire in preschoolers suspected of having pervasive developmental disorders. Autism. 2008;12:627–644. 110. Sowa M, Meulenbroek R. Effects of physical exercise on autism spectrum disorders: a meta-analysis. Res Autism

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Spectr Disord. 2012;6:46–57. 111. Sparrow S.S, et al. Vineland adaptive behavior scales. ed 2. Upper Saddle River, NJ: Pearson Education; 2005. 112. Spreckley M, Boyd R. The efficacy of applied behavioral intervention in preschool children with autism for improving cognitive, language, and adaptive behavior: a systematic review and meta-analysis. J Pediatr. 2009;154:338–344. 113. Squires J, et al. Ages & Stages Questionnaires® (ASQ-3™). ed 3. Baltimore, MD: Brookes Publishing; 2009. 114. Srinivasan S.M, et al. Current perspectives on physical activity and exercise recommendations for children and adolescents with autism spectrum disorders. Phys Ther. 2014;94:875–889. 115. Stone W.L, et al. Use of the screening tool for autism spectrum disorder in two year olds for children under 24 months: an exploratory study. Autism. 2008;12:557–573. 116. Strain P, Schwartz I. Positive behavior support and early intervention for young children with autism: case studies on the efficacy of proactive treatment of problem behavior. In: Sailor W, et al., ed. Handbook of positive behavior support. New York: Springer; 2009:107–123. 117. Strain P. Empirically-based social skill intervention. Behav Disord. 2001;27:30–36. 118. Strain P.S, Hoyson M. On the need for longitudinal, intensive social skill intervention: LEAP follow-up outcomes for children with autism spectrum disorder as a case-in-point. Topics Early Child Spec Educ. 2000;20:116–122. 119. Sussman F: More than words research summary. Retrieved May 3, 2015, from: http://www.hanen.org/SiteAssets/Helpful-Info/ResearchSummary/More-Than-Words-Research-Summary.aspx. 120. Swanson J, et al. Strengthening family capacity to provide young children everyday natural learning opportunities. J Early Child Res. 2011;9:66. 121. TEACCH Autism Spectrum Disorder Program. Retrieved on May 3, 2015, from: http://www.teacch.com/. 122. The PLAY Project. Retrieved on May 3, 2015, from:

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www.playproject.org. 123. Tomcheck S.D, Dunn W. Sensory processing in children with and without autism: a comparative study using the short sensory profile. Am J Occup Ther. 2007;61:190–200. 124. Tomchek S.D, et al. Patterns of sensory processing in children with an autism spectrum disorder. Res Autism Spectr Disord. 2014;8:1214–1224. 125. Ulrich D, Webster E.K. In: Test of gross motor development. Austin, TX: Pro-Ed; 2015. 126. Van der Meer L.A.J, Rispoli M. Communication interventions involving speech-generating devices for children with autism: a review of the literature. Dev Neurorehabil. 2010;13:294–306. 127. Virues-Ortega J. Applied behavioral analytic intervention for autism in early childhood: meta-analysis, metaregression and dose response meta-analysis of multiple outcomes. Clin Psychol Rev. 2010;30:387–399. 128. Volkmar F.R. Editorial: the importance of early intervention. J Autism Dev Disord. 2014;44:2979–2980. 129. Wang L.W, et al. The prevalence of gastrointestinal problems in children across the United States with autism spectrum disorders from families with multiple affected members. J Dev Behav Pediatr. 2011;32:351–360. 130. Watson L.R, et al. Behavioral and physiological responses to child-directed speech as predictors of communication outcomes in children with autism spectrum disorders. J Speech Language Hearing Res. 2010;53:1052–1064. 131. Wilbarger P, Wilbarger J.L. Sensory defensiveness in children ages 2-12: an intervention guide for parents and other caretakers. Santa Barbara, CA: Avanti Educational Programs; 1991. 132. Williams M.S, Shellenberger S. How does your engine run? The Alert Program™ for Self-Regulation, Autism-Asperger’s Digest Magazine 14. 2000. 133. World Health Organization. Towards a common language for functioning, disability, and health ICF. Geneva, Switzerland: Author; 2002. 134. Xue M, et al. Prevalence of motor impairment in autism

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spectrum disorders. Brain Deve. 2007;29:565–570. 135. Zwaigenbaum L. The screening tool for autism in two year olds can identify children at risk of autism. Evid Based Ment Health. 2005;8:69.

Suggested Readings Background Autism spectrum disorder. In: Diagnostic and statistical manual of mental disorders. Washington, DC: American Psychiatric Association; 2013:50– 51. Centers for Disease Control. Prevalence of autism spectrum disorder among children aged 8 years: Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010, Surveill Summ. 2014:1–21. Chawarska K, et al. 18-month predictors of later outcomes in younger siblings of children with autism spectrum disorder: a Baby Siblings Research Consortium Study. Child Adolesc Psychiatry. 2014;53:1317–1327. Cox A.W, et al. National Professional Development Center on ASD: an emerging national educational strategy, Autism Services Across America. 2013:249–266. Hyman S, Levy S. Autism spectrum disorders. In: Batshaw M, et al., ed. Children with disabilities. ed 7. Baltimore, MD: Paul H. Brookes; 2013:345–367. Levy S.E, et al. Autism spectrum disorder and co-occurring developmental, psychiatric, and medical conditions among children in multiple populations of the United States. J Dev Behav Pediatr. 2010;31:267–275.

Foreground Ament K, et al. Evidence for specificity of motor impairments in catching and balance in children with autism. J Autism Dev Disord. 2015;45:742– 751. Bhat A.N, et al. Current perspectives on motor functioning in infants, children, and adults with autism spectrum disorders. Phys Ther. 2011;91:1116–1129. Case-Smith J, et al. A systematic review of sensory processing interventions for children with autism spectrum disorders,. Autism. 2015;19:133–148. Downey R, Rapport M.K. Motor activity in children with autism: a review of the current literature. Pediatr Phys Ther. 2012;24:2–20. Lang R, et al. Physical exercise and individuals with autism spectrum disorders: a systematic review. Res Autism Spectr Disord. 2010;4:565–576.

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Odom S, et al. Moving beyond the intensive behavior treatment versus eclectic dichotomy evidence-based and individualized programs for learners with ASD. Behav Modif. 2012;36:270–297. Pan C.Y. The efficacy of an aquatic program on physical fitness and aquatic skills in children with and without autism spectrum disorders. Res Autism Spectr Disord. 2011;5:657–665. Rush D.D, Shelden M.L.L. The early childhood coaching handbook. Baltimore, MD: Brookes Publishing; 2011. Shelden M, Rush D. The early intervention teaming handbook: the primary service provider approach. Baltimore, MD: Brookes Publishing; 2013. Sowa M, Meulenbroek R. Effects of physical exercise on autism spectrum disorders: a meta-analysis. Res Autism Spectr Disord. 2012;6:46–57. Srinivasan S.M, et al. Current perspectives on physical activity and exercise recommendations for children and adolescents with autism spectrum disorders. Physical Ther. 2014;94:875–889. Tomchek SD, et al.: Patterns of sensory processing in children with an autism spectrum disorder, Res Autism Spectr Disord 8:1214–1224. Volkmar F.R. Editorial: the importance of early intervention. J Autism Dev Disord. 2014;44:2979–2980.

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SECTION 4

Management of Cardiopulmonary Conditions OUTLINE 25. Children Requiring Long-Term Mechanical Ventilation 26. Cystic Fibrosis 27. Asthma: Multisystem Implications 28. Congenital Heart Conditions

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Children Requiring Long-Term Mechanical Ventilation Helene M. Dumas, and M. Kathleen Kelly

Advances in medicine and biomedical technologies have improved the survival of children with complex health care needs, in particular those who require prolonged mechanical ventilation. Mechanical ventilation (MV) is a life-sustaining form of medical technology that either substitutes for or assists a child’s respiratory efforts. Children require MV as a treatment modality because of underlying disease processes resulting in respiratory insufficiency. By definition, an individual is considered to be a long-term ventilator user if MV is required for more than 21 days.90 Although the degree of support and care varies from child to child, each child dependent on long-term MV requires high-cost care that demands sophisticated equipment and round-the-clock monitoring. The child with ventilator dependence represents a unique challenge for all health care professionals, as providers have moved beyond the goal of increasing survival rates and are now identifying evidence-informed practices that result in optimal

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quality-of-life outcomes. For the child dependent on long-term MV, goals include minimizing impairments, reducing the incidence of activity limitations, and maximizing participation in home, school, and the community.52 The role of the pediatric physical therapist is an important one in addressing these aims. Children dependent on MV may be seen by physical therapists in a hospital-based setting such as a neonatal or pediatric intensive care unit (NICU or PICU), in a tertiary care hospital, or in a postacute care rehabilitation facility. Children dependent on MV may also be seen by a physical therapist in the community in a public or private school, a medical day care, a home- or center-based early intervention program, or at home. This chapter presents a framework for physical therapist examination, intervention, and outcomes for children dependent on long-term MV. The pathophysiologic processes associated with chronic respiratory failure are described, as are the common modes of ventilatory support.

Incidence Although children dependent on long-term MV are a small percentage of the overall group of children with medical complexity, the number continues to increase as a result of continuing advances in medical care and improved technology.49,60,88 From 2000 to 2006, there was a 55% increase in the number of hospital discharges for children dependent on mechanical ventilation.4 Estimates indicate that in the state of Utah, the number of children using MV at home increased by 33% from 1996 to 2004.26 In Indiana, the incidence of children with chronic respiratory failure secondary to bronchopulmonary dysplasia (BPD) and dependent on MV at home was 1.23 per 100,000 live births in1984 and increased to 4.77 per 100,000 live births in 2010. In Massachusetts, the number of children dependent on MV has increased nearly threefold from an estimated 70 children in 1990 to 197 in 2005.27 In 2012, it was estimated that 8000 children in the United States are dependent on MV and live at home.8 This steadily growing prevalence has also been established outside the United States.31,49,60,70,88

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The introduction of safe and portable respiratory equipment for home care use and the presumption of an overall reduced cost of care have added to the positive expectations of care for children at home on a ventilator in various geographic regions.15,20 Geographic differences in the prevalence of children with ventilator dependence may exist, however, as a result of differing medical practices, parental expectations of long-term survival, and the expectation of being able to care for a child on a ventilator at home.3,13,15,26,27,88 Unfortunately, no central tracking system exists for documenting ventilator use, outcomes of care, or care settings for children dependent on long-term MV.27 The highest percentage of children requiring MV is no longer due to the chronic lung disease associated with premature birth but rather is the result of congenital and neurologic disorders and neuromuscular diseases.13,27,31,69 This shift is of particular importance to physical therapists because children with congenital, neurologic, and neuromuscular diagnoses are common diagnostic groups referred to physical therapists, and it is thus increasingly more likely that physical therapists will encounter a child who is dependent on MV. In a study of children requiring MV and admitted to one of six inpatient postacute hospitals in the northeastern United States, 83% received rehabilitation services during their hospitalization, and 50% of those children discharged using ventilators required rehabilitation services following discharge from the hospital.59

Chronic Respiratory Failure The need for long-term MV is due to ongoing impaired respiratory function. Adequate respiratory function requires the effective exchange of oxygen and carbon dioxide with an organ for gas exchange (the lungs), a “pump” mechanism (the rib cage, diaphragm, and external intercostals for inspiration and the rectus abdominis, internal intercostals, and accessory muscles for nonpassive expiration), and the neural control centers for breathing (involuntary-medulla and pons and voluntary-cerebral cortex). Under normal conditions, an individual’s respiratory function adapts to satisfy the increased metabolic needs that occur during

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exercise, hyperthermia, or other demands, but when these systems are unable to deliver oxygen and remove carbon dioxide from the pulmonary circulation, respiratory failure ensues and gas exchange is impaired.55,66,85 Chronic respiratory failure and dependence on technology characterize the health condition of children requiring long-term ventilator assistance rather than the medical or rehabilitation diagnosis. Acute respiratory failure may develop in minutes or hours, whereas chronic respiratory failure develops over several days or weeks (Box 25.1). Chronic respiratory failure is the result of an uncorrectable imbalance in the respiratory system in which a failure of the exchange of oxygen and carbon dioxide occurs within the alveoli, along with failure of the muscles required to expand the lungs or failure of the brain centers controlling respiration. In this situation, ventilatory muscle power and central respiratory drive are inadequate to overcome the respiratory load. Regardless of the etiology, there is a need to balance the medical, developmental, and psychological needs of these children.66,67,85 Generally, the causes of chronic respiratory insufficiency in children have been grouped into the following categories: (1) conditions that cause central dysregulation of breathing (e.g., ischemic encephalopathy, traumatic brain injury, spinal cord injury), (2) conditions that affect the lungs, lung parenchyma, and airway (e.g., BPD, tracheobronchomalacia), and (3) diseases/disorders of the chest wall and thorax that affect the respiratory pump (e.g., spinal muscular atrophy, scoliosis).55,56,74,85 See Table 25.1.

Central Dysregulation of Breathing Central dysregulation of breathing is characterized by disorders affecting the central respiratory centers (i.e., brain stem or cervical spinal cord) that control the depth and frequency of involuntary breathing. Appropriate rhythmic depth and frequency of breathing maintain homeostatic levels of oxygen, carbon dioxide, and hydrogen ions in arterial blood. Voluntary control of breathing is under control from the cerebral cortex (i.e., speaking, breath holding); these voluntary pathways bypass the respiratory centers in the medulla and directly affect the respiratory motor neurons

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that are located in the spinal cord.

B O X 2 5 . 1 Signs

of Chronic Respiratory Failure

Clinical Signs Decreased inspiratory breath sounds Use of accessory muscles/chest wall retractions Altered depth and pattern of respiration (deep, shallow, apnea, irregular) Weak cough Nasal flaring Wheezing/expiratory grunting/prolonged expiration Retained airway secretions/incompetent swallowing/weak or absent gag reflex (neurologic, neuromuscular, and skeletal conditions) Cyanosis Tachycardia Hypertension Bradycardia Hypotension Cardiac arrest Fatigue/decreased level of activity Poor weight gain Excessive sweating Changes in mental status Retained airway secretions Restlessness/irritability Headache Papilledema Seizures Coma

Physiologic/Laboratory Findings Hypoxemia (acute or chronic): PaO2 < 65 mm Hg Hypercapnia (acute or chronic): PaCO2 > 45 mm Hg O2 saturation 95% and a CO2 tension within the range of 35 to 45 mm Hg while the child is awake or asleep.66,67,85 Since the beginning of the modern era of MV in the 1950s, ventilators have continued to undergo significant technologic advances. Specifically, pediatric MV has undergone continual changes that reflect increased knowledge, understanding, and appreciation of the developing cardiorespiratory system. Currently, ventilation approaches utilize protective strategies to avoid atelectrauma and lung overdistention through the use of maximal alveolar pressures, minimal positive end-expiratory pressure, and permissive hypercapnia. Contemporary knowledge of respiratory physiology and a more detailed understanding of the pathophysiologic mechanisms underlying diseases of the respiratory system continue to drive research and development in this area. Although it is beyond the scope and intent of this chapter to detail available technical information on MV, a brief overview of MV will be provided. Positive-pressure ventilation (PPV) is the most commonly used assisted ventilation strategy and can be delivered using noninvasive approaches as well as invasive methods. Most often, PPV is delivered invasively via an endotracheal (for the short term

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in the tertiary care hospital) or tracheostomy tube (for long-term management) with pressurized gas delivered into the airways and ventilator circuit during inspiration until the ventilator breath is terminated. As the airway pressure drops to zero, elastic recoil of the chest accomplishes passive exhalation by pushing the tidal volume out. Positive-pressure ventilators can be broadly classified as pressure limited or volume limited, the description indicating the method used to switch from the inspiratory phase to the expiratory phase. For a volume-cycled ventilator, the signal to terminate the inspiratory activity of the ventilator is a preset volume. For pressurecycled ventilators, a preset pressure limit is used. The modes within each of those classes are categorized according to the type of inspiratory support (Box 25.2). There has been an increasing use of partial ventilator assistance strategies to avoid the complications related to controlled MV.73 Ideally, the desirable mode of ventilation is one with optimal synchrony and patient-ventilator interface, along with the use of lung-protective strategies. With the advent of microprocessor technology, newer models of ventilators are able to offer greater flexibility with respect to modes of oxygen delivery. TABLE 25.2 Selection Criteria for Mechanical Ventilation

More than one episode of apnea with bradycardia or an episode of cardiac arrest is an adequate indication for initiating mechanical ventilation (MV), even in the absence

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of blood gas data. b

Laboratory values less extreme than those indicated must be supplemented by clinical evidence of severity to warrant initiating MV. From Laghi F, Tobin M: Indications for mechanical ventilation. In M. Tobin, editor: Principles and practice of mechanical ventilation, ed 2, New York: McGraw Hill, 2006; Venkataraman ST: Mechanical ventilation and respiratory care. In Fuhrman BP, Zimmerman JJ, editors: Pediatric critical care, ed 4, Philadelphia: Saunders, 2011.

Although long-term MV has decreased mortality rates for infants and children, complications can impact overall health, growth and development, and quality of life. Long-term invasive PPV requires a tracheostomy, which increases the complexities of care (Fig. 25.1).35,64 Complications due to tracheotomy such as tracheitis, accidental decannulation, tracheal ulceration, or granuloma development are common. Tracheostomy placement or complications require routine surgical surveillance or surgical intervention (bronchoscopy).36 An artificial airway also interferes with speech and nutrition. Secondary illnesses that have been reported include ventilator-associated pneumonia79 and respiratory syncytial virus infection.87 Despite the benefits of PPV, there is risk of secondary lung injury. Numerous complications can occur with invasive PPV (Box 25.3), making it essential that individuals who work with children requiring long-term MV understand normal and pathologic respiratory physiology, anatomic and physiologic changes of the developing respiratory system, and how the machine interfaces with the patient’s physiology. Positive-pressure ventilatory support may also be accomplished noninvasively. Positive pressure via facemask can be accomplished using continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP). CPAP applies continuous distending pressure to the alveoli throughout the respiratory cycle, keeping the alveoli partially inflated so that they may expand more easily with each cycle. CPAP may be delivered nasally, thus minimizing discomfort. BiPAP uses cycling variations between two CPAP levels, allowing spontaneous breathing during every ventilatory phase and has been used effectively to wean children from long-term MV.

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B O X 2 5 . 2 Types

of Positive-Pressure

Ventilations Noninvasive Positive-Pressure Ventilation Modes of Application • CPAP: single level of airway pressure applied throughout the respiratory cycle • BiPAP: provides airway pressure during inspiration and an expiratory pressure to maintain lung expansion during expiration

Invasive Positive-Pressure Ventilation Types of Ventilation Pressure limited ventilation: inspiration ends after delivery of a set inspiratory pressure; tidal volume variable Modes • Pressure-controlled MV: minute ventilation determined by set respiratory rate and inspiratory pressure; patient does not initiate additional minute ventilation • Pressure-limited assist-controlled MV: minimum minute ventilation set and patient can trigger additional pressurelimited breaths • Pressure-limited synchronized intermittent MV (SIMV): ventilator breaths are synchronized with patient’s spontaneous inspiratory efforts • Pressure-support ventilation: patient-triggered breath with preset positive pressure, thus uses patient’s own inspiratory timing and tidal volume; often used in weaning • Volume limited ventilation: inspiration ends after delivery of a set tidal volume Modes • Controlled MV: preset tidal volume and respiratory rate delivered; patient does not initiate any ventilation • Assist-controlled MV: preset minute ventilation; patient can trigger additional breaths, which have a set tidal volume • Intermittent mandatory ventilation (IMV): allows patient to

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breathe in between mandatory ventilator breaths • Synchronized intermittent MV (SIMV): allows the mandatory breaths to be triggered by the patient’s spontaneous breaths Siegel T.A.: Mechanical Ventilation and Non-invasive Ventilatory Support. In Marx J.A., Hockberger R.S., Walls R.M., editors: Rosen’s Emergency Medicine, ed 8, Philadelphia: Saunders, 2014. Venkataraman S.T.: Mechanical Ventilation and Respiratory Care. In Fuhrman B.P., Zimmerman J.J.: Pediatric Critical Care, ed 4, Philadelphia: Saunders, 2011. Hyzy R.C.: Modes of Mechanical Ventilation. UpToDate http://www.uptodate.com/contents/modes-ofmechanical-ventilation? source=search_result&search=modes+of+mechanical+venatilation&selectedTitle=17∼150#H29, 2015. Vo P, Kharasch VS: Respiratory failure. Pediatrics in Review 35: 476-486, 2014.

In addition to the obvious advantage of avoiding a tracheostomy, noninvasive forms of PPV reduce the risk of acquired infection and allow patients to be more mobile.37 Difficulties with noninvasive ventilation in children, however, such as poor mask fit, inadequate ventilation because of leaks, and eye irritation and nasal dryness due to high flow, have been reported. In addition, the use of noninvasive ventilation is limited in patients with congenital facial anomalies, which may preclude a tight-fitting mask, and with conditions that have the potential for infection, such as facial trauma or burns.37

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FIG. 25.1 Child with a tracheostomy.

(From Hockenberry MJ,

Wilson D: Wong’s nursing care of infants and children, ed 10, St. Louis, 2015, Mosby.)

Another strategy for noninvasive MV is the use of negativepressure ventilation (NPV). NPV provides a pressure gradient, which is established by creating a negative pressure around the person’s entire body (from the neck down) during inspiration, causing air to enter the lungs. The typical interface used with this type of ventilation is a customized chest shell, a wrap/poncho, or a tank ventilator (Fig. 25.2). A major advantage of NPV is that it avoids or delays the need for a tracheostomy, thereby reducing the risk of infection. Another advantage of NPV is that ventilation is not interrupted when secretions are suctioned. NPV has been used most successfully for patients with normal lung mechanics and hypoventilation, as seen in patients with neuromuscular disease and pulmonary disease requiring periodic or nocturnal ventilatory

1995

support. There are limitations in use of NPV with infants and young children. Airway occlusion may occur during sleep. The chest shell or wrap is not effective for children who require high respiratory rates, tidal volumes, or distending pressures; thus NPV is not commonly used.49,66,88

Weaning From a Ventilator The transition from mechanical ventilation to unassisted breathing is a complex process. Weaning a child from the support of a mechanical ventilator is highly individualized, is accomplished in response to recovery from respiratory insufficiency, and may not be a goal for some children. The primary consideration is whether a child is capable of maintaining adequate alveolar ventilation while breathing spontaneously. This requires adequate central nervous system regulation, respiratory muscle capacity to support the work required for breathing, and that the lungs and airway are not severely compromised by disease. Although weaning from MV may be a goal for many children, no standard protocol exists for the discontinuation of long-term ventilator support.

B O X 2 5 . 3 Complications

Associated With

Mechanical Ventilation Respiratory Tracheal lesions (erosion, edema, stenosis, granuloma, obstruction, perforation) Accidental endotracheal tube displacement or actual extubation Air leaks (pneumothorax, pneumomediastinum, interstitial emphysema) Infection (tracheitis, pneumonitis) Trapping of gas (hyperinflation) Excessive secretions (atelectasis) Oxygen hazards (depression of ventilation, bronchopulmonary dysplasia) Pulmonary hemorrhage

1996

Circulatory Impairment of venous return (decreased cardiac output and systemic hypotension) Oxygen toxicity (retinopathy of prematurity, cerebral vasoconstriction) Septicemia Intracranial hemorrhage Hyperventilation (decreased cerebral blood flow)

Gastrointestinal Gastrointestinal hypomotility Stress ulcer

Metabolic Increased work of breathing (“fighting the ventilator”) Alkalosis (potassium depletion, excessive bicarbonate therapy)

Renal and Fluid Balance Antidiuresis Excess water in inspired gas

Equipment Malfunction Power source failure Improper humidification (overheating of inspired gas, inspiratory line condensation) Improper tubing connections (kinked line, disconnection) Ventilation malfunction (leaks, valve dysfunction) From Zielinska MS, et al: Mechanical ventilation in children: problems and issues. Adv Clin Exp Med 23:843–848, 2014; Slutsky AS, Ranieri VM: Ventilator-induced lung injury. N Engl J Med 369:2126–2136, 2013; Venkataraman ST: Mechanical ventilation and respiratory care. In Fuhrman BP, Zimmerman JJ, editors: Pediatric critical care, ed 4, Saunders, 2012.

In critical care, the process of endotracheal tube extubation and ventilator weaning is often done by trial and error, whereby time off the ventilator is variable, dependent on when hypercapnia and hypoxia develop. In addition to the increased length of time for the weaning process, weaning strategies for children in a postacute setting are inherently different from those used in the neonatal or pediatric ICU because of differences between the use of a short-

1997

term endotracheal tube and a more permanent stable airway with a tracheostomy. Proposed criteria for weaning readiness in the postacute pediatric hospital setting include the following: (1) no escalation in ventilator support within 2 days before weaning; (2) stable chest radiograph; (3) blood PaCO2 level not more than 10% above baseline; (4) blood pH within normal range; (5) supplemental FiO2 of 0.6 or lower; (6) stable blood pressure over the previous 5 to 7 days; (7) heart rate no greater than 95% maximal normal for age; (8) tolerance of adequate nutrition; (9) absence of active infection, acute pain, or other medical problems that might negatively affect the weaning process; and (10) reported understanding by the family/guardian and all health care providers of the desirability of weaning. In pediatric pulmonary rehabilitation, children may be weaned completely off MV, advanced to portable equipment, progressed to milder levels of ventilation (i.e., reduced pressure support), or weaned to a less invasive mode of support (i.e., CPAP).58

FIG. 25.2 Cuirass negative pressure ventilation

device. (From McDonald CM, Joyce NC: Neuromuscular disease management

1998

and rehabilitation, part II: specialty care and therapeutics. Phys Med Rehabil Clin N Am 23:xiii-xvii, 2012.)

Despite the expected financial, clinical, and psychosocial advantages of weaning children with ventilator dependency in a postacute inpatient setting, only a few studies have reported outcomes on cohorts of children with long-term NV dependence undergoing weaning programs. In a single-site study, successful ventilator weaning was achieved during 30% of admissiondischarge episodes, with diagnosis (prematurity with BPD) and age (younger) being the strongest predictors of weaning success. Nearly half of children admitted to a prospective multisite study over a 1year enrollment period who were dependent on MV 24 hours per day at admission no longer required MV at discharge from inpatient rehabilitation. In addition, four children required only 12 or fewer hours per day of ventilator support at discharge.59 Even though respiratory function is not monitored as closely, reports have described children’s dependence on MV being minimized while they are cared for at home. Programs report that up to 57% of children are weaned from MV while at home.26,57 Weaning can be an arduous task, both physiologically and psychologically, and must be done with caution. The weaning prognosis can be enhanced by improvements in cardiorespiratory strength and endurance, adequate nutrition, and overall health; however, both muscular and respiratory fatigue should be avoided during this time. The timing and prognosis for weaning are important for physical therapists to understand so that physical therapist management may be directed appropriately. It is imperative for the physical therapist to coordinate and communicate with the medical team as to the amount of physical exertion that can be tolerated safely. During a time of weaning, the child’s schedule of activities may need to be altered. In addition, the observations and ongoing clinical assessments made by the physical therapist may be influential in ventilator weaning. Ventilator settings are often influenced by the child’s physical capacity such as strength, endurance, and developmental/functional skills. When these findings are communicated to the medical care team, weaning may be progressed, halted, or interrupted. Conversely, unpublished clinical

1999

observations by the authors indicate that when children are being actively weaned from the ventilator, physical therapy participation may be limited. Infants may sleep more, and older children often do not tolerate the same level of physical activity, until they accommodate to the increased demands of reduced ventilator settings on their respiratory system.

Continuum of Care Children who require mechanical ventilation may be seen by a physical therapist anywhere along the health care continuum. Infants in a neonatal intensive care unit may be placed on MV because of lung or airway anomalies, neurologic disorders affecting respiration, or disorders of the respiratory pump.83 Children in a pediatric ICU may be placed on MV for postsurgical indications; as the result of recent trauma, illness, or organ failure; or because of a history of chronic respiratory failure. Only a small percentage of these children, however, will require long-term MV.81 For children who require MV for an extended period, the locus of inpatient care has shifted from acute care hospital neonatal and pediatric ICUs to postacute rehabilitation units or hospitals, where children can spend longer periods of time at a lower financial cost. In the rehabilitation unit or hospital, children may be weaned from their oxygen or ventilators or weaned to a less invasive mode of ventilation.31,59 The more developmentally appropriate environment and rehabilitation services are intended to optimize weaning from a ventilator to a less restrictive mode of respiratory support for safe discharge home. Parent–child interaction, parent education, and growth and development can be promoted along with medical stability.59 This is an important consideration for referring children to rehabilitation programs and for setting realistic expectations for referral sources, children and families, clinical staff, and payers. Whether fully weaned, weaned to fewer hours per day of MV, or weaned to a less invasive mode of ventilation, the ultimate goal is to discharge children home. Children dependent on MV can be cared for at home and can participate in community activities when medically stable on a ventilator suitable for nonhospital use and with appropriate

2000

caregiver support.57 Technological advances in design, efficiency, and portability have contributed to an increase in the use of MV outside the hospital environment. This option is dependent on many factors but primarily on a stable airway, an oxygen requirement typically less than 40%, a PaCO2 level not more than 10% above baseline, and an adequate nutritional intake to maintain growth and development.58 Home ventilation minimizes nosocomial infections and improves children’s psychosocial development, social integration, and quality of life.13,15,63,67,69 Barriers to discharge from the hospital include the inability to recruit qualified home nursing staff inadequate or delayed funding of home care resources, unsuitable housing, delays in obtaining the appropriate equipment, and a limited number of capable family caregivers. It is imperative that the family or designated caregivers be involved in, and capable of learning, all aspects of the child’s care. This care includes not only managing the ventilator and other monitoring equipment but also being able to recognize signs of medical distress and provide emergency medical procedures. The high degree of medical and technological expertise required by parents or caregivers can be a tremendous drain on a family.19,67,116 The transition to home carries with it other circumstances that can increase stress such as financial burden and significant changes in a family’s routine, lifestyle, and relationships. The shift in responsibility for medical care from health care professionals to a family results in a myriad of issues that require psychological, social, ethical, financial, and policy solutions.12,13,19,46,116 In many cases, the primary caregiver has to leave the workforce to care for the child at home.51 Also, for children using MV at home, hospital readmissions are common.11,34,87 Burdens of a hospital readmission for the child and family may include separation from family, coping with the illness itself, and financial concerns such as loss of income and the cost of the hospital admission. Children and families also face the possibility of a breakdown in their established network of community service providers caused by the interruption in service.19 Although these added burdens do not necessarily outweigh the tremendous benefits of children being raised at home and integrated into their communities, they can be overwhelming and can have an impact on the quality of life of the child and

2001

family.12,19,46,67 As the degree and complexity of impairment, activity limitations, and participation restrictions increase, quality of life usually decreases—especially when financial, psychosocial, and emotional supports dwindle. With this in mind, one of the most important roles of health care providers is to work closely with family members as a child is being considered for discharge from the hospital and while at home. Physical therapists are encouraged to collaborate with families to identify their information needs and share intervention options in ways that enable informed decision making about caring for their children at home.30,43,67 It is essential that the child’s therapy program be integrated into the family’s daily routine and not be the focus of a family’s daily schedule.43,51

Physical Therapist Management Physical therapy may be provided for children dependent on longterm MV who have or may develop impairments, activity limitations, and participation restrictions related to congenital or acquired conditions of the musculoskeletal, neuromuscular, cardiovascular, pulmonary, or integumentary systems. As noted previously, children who require long-term mechanical ventilation are a diverse and heterogeneous group. Despite differences in the underlying cause of respiratory insufficiency, children may have similar activity limitations and participation restrictions. The video accompanying this chapter illustrates some of the physical therapist interventions used with a 22-month-old girl with a diagnosis of Moebius syndrome, central respiratory dysfunction, and long-term mechanical ventilator dependence. Children dependent on long-term MV may have limitations in self-care, mobility, cognitive, communication,32 or oral feeding activities. Limitations in self-care and mobility activities may increase with fatigue, due to reduced cardiorespiratory endurance or limited access to environmental surroundings because of tubing length and the ventilator itself. The lack of frequent and variable practice opportunities makes skill acquisition particularly difficult, and thus the repertoire of skills in a variety of developmental domains is limited (see Chapter 4 for additional details on motor

2002

learning). As a point of illustration, the acquisition of independent mobility in children who are typically developing allows them to acquire information about their world and develop perceptions upon which they can act. Thus, development of cognitive skills such as object permanence is facilitated through motoric competencies. This interweaving of developmental domains and their interdependence is a well-known phenomenon, so the impact of limitations in the amount and type of mobility and lack of environmental affordances can be substantial. A case report described the achievement of independent ambulation while a child was using CPAP.16 An 18-month-old child with chronic lung disease of infancy and tracheobronchomalacia was provided with a CPAP device that allowed compressed air to be delivered via tracheostomy tube with extended tubing. It was hypothesized that the shorter, heavier tubing of the traditional CPAP device had severely restricted the child’s mobility, but the application of the new CPAP device afforded the child the space to move up to 10 meters, and thus, psychomotor development was stimulated. Unfortunately, no studies documenting the relationship of physical therapist intervention, ventilator weaning, and motor/mobility outcomes are available for children dependent on long-term MV. In addition to the aforementioned impairments and activity limitations, the additive effects of secondary complications such as recurrent hypoxic episodes, recurrent infections, poor weight gain, and poor physical growth can directly result in any number of secondary impairments and subsequent activity limitations. For example, because of the often prolonged periods of immobility or restricted activity early in the course of their disease, children may demonstrate impairments such as sensory defensiveness, generalized weakness, and soft tissue or muscular tightness. Likewise, if the child has hypoxic or ischemic episodes, neurologic damage may additionally limit motor skill acquisition and fluency. Infants with BPD and extremely low birth weight with a history of MV have an increased risk of being diagnosed with cerebral palsy, attention deficit disorder, and developmental coordination disorder (DCD).92 Due to children’s impairments, reliance on external equipment

2003

requiring a power source and back-up safety materials (e.g., Ambu bag, extra tracheostomy tube), and the need for a trained adult caregiver, participation in activities outside the home may be difficult and appropriate recreation and leisure activities may be hard to find. Reports of participation in an ice skating program23 and in a hospital-based fitness program are available.24 Summer outdoor overnight camps for children dependent on MV are offered in multiple states throughout the United States.39 A multidisciplinary team approach is essential in the management of children with long-term MV and should be the standard of practice, regardless of the physical therapist’s practice setting. For optimal patient management, the physical therapist who works with infants, children, and adolescents dependent on MV should have a thorough understanding of cardiorespiratory physiology and the implications of a compromise to that system in addition to an understanding of typical and atypical motor skill development. Physical therapists should be aware of the pathophysiology of chronic respiratory failure, the physiologic conditions requiring MV, the parameters of ventilator machinery, the varied types of MV, and the use of physiologic monitoring devices (Table 25.3). Types and settings of ventilators will vary according to the child’s age and diagnosis, site of care, availability of equipment, and providers’ knowledge and experience with specific types of ventilators. Although the infant or child may be medically stable, the presence of an artificial airway creates a critical situation because it may become dislodged or occluded. In addition, the infant or young child may not communicate well; thus it is up to the therapist to interpret any signs of impending or actual distress. TABLE 25.3 Commonly Encountered Noninvasive Monitoring Devicesa Equipment Cardiorespiratory monitors Pulse oximeterb Ventilator alarms Transcutaneous

Physiologic Parameters Monitored Heart rate and respiratory rate Transcutaneous arterial oxygen saturation to monitor hypoxemia Various modes chosen for the individual case, as well as airway pressures, gas concentrations, and expiratory tidal volumes Partial pressure of oxygen and carbon dioxide in the arterial blood

2004

PaO2 and PaCO2 Oxygen analyzers on Oxygen supply in the ventilator circuit the ventilator Sphygmomanometer Blood pressure a

These are some noninvasive devices that one may use to monitor response to activity and general status. Before any examination or treatment session, the therapist should be familiar with all of the equipment used for the child. b

Pulse oximeters are not useful for discriminating hyperoxia because the blood is fully saturated at PaO2 of 150 mm Hg.

Examination Before any examination or intervention session, the therapist should confer with the child’s primary caregiver to determine the child’s current medical status, in addition to his or her baseline physiologic parameters. Depending on the nature and severity of the predisposing condition, cardiorespiratory parameters may vary from what is considered to be typical for the child’s age (Table 25.4). It is always prudent to establish safe physiologic parameters within which to work. Typically, heart rate, respiratory rate, and oxygen saturation are monitored electronically while the child is on the ventilator. Physical therapists should familiarize themselves with the type of mechanical ventilator being used by the child. The therapist should understand whether the ventilator is doing all the work of breathing for the child or whether it is assisting the child with the number or depth of breaths. Physical therapists should be knowledgeable of the clinical signs that indicate that the child needs respiratory assistance and the alarm systems of the ventilator, monitors that record oxygen saturation levels, heart and respiratory rates, and the emergency response procedures of the care setting. Therapists should be competent observing the child for signs of respiratory distress, skin color changes indicative of hypoxia, and changes in respiratory rate, breathing pattern, symmetry of chest expansion, posture, and general comfort. Signs of respiratory distress such as retractions, nasal flaring, expiratory grunting, and stridor may not be evident when a child is on a mechanical ventilator. For more information specific to the assessment of the cardiorespiratory system, the reader is referred elsewhere.53

2005

As with any child referred for physical therapy services, the therapist must first complete a comprehensive examination that includes a history, a systems review, and specific tests and measures. Because of varying ages, diagnoses, prognoses, and intervention settings for children dependent on MV, tests and measures must be aimed at quantifying a child’s aerobic capacity and endurance, motor function, musculoskeletal performance (flexibility, strength, posture), and general adaptive behaviors that are age appropriate and most relevant to the child and family goals and the clinical setting. TABLE 25.4 Normal Ranges of Physiologic Valuesa Parameter

Newborn/Infant (< 1 year)

Respiratory rate (breaths/minute) 24–40 40–70 (preterm infant) Heart rate (beats/minute)

100–160 120–170 (preterm infant) Blood pressure-systolic (mm Hg) 60–90 55–75 (preterm infant) Blood pressure-diastolic (mm Hg) 30–60 35–45 (preterm infant) PaO2 (mm Hg) 60–90 PaCO2 (mm Hg) 30–35 Arterial oxygen saturation (%)

87–89 (low) 94–95 (high) 90–95 (preterm infant)

Older Infant and Child (> 1 year) 20–30 (1–3 years) 20–24 (4–9 years) 14–20 (> 10 years) 70–120 (1–10 years) 60–100 (> 10 years) 80–130 (1–3 years) 90–140 (> 3 years) 45–90 (< 3 years) 50–80 (> 3 years) 80–100 30–35 (< 2 years) 35–45 (> 2 years) 95–100

These measures represent “normal” physiologic values; in the case of infants and children with varying pathophysiologic processes, the “normal” values may be different. From Bernstein D: History and physical examination. In Kliegman RM, Stanton BMD, St. Geme J, et al., editors: Nelson textbook of pediatrics, ed 20, Philadelphia: Elsevier 2016; Marx J, Hockberger R, editors: Rosen’s emergency medicine: concepts and clinical practice, ed 8, Philadelphia: Saunders, 2014.

The neuromuscular/musculoskeletal examination should provide information about the child’s general neurologic and musculoskeletal status and includes assessment of active control of movement and strength, flexibility, sensation, and posture. Examination procedures will vary, depending on the age and cognitive level of the child, and areas of emphasis may be different,

2006

depending on the diagnosis, the care setting, and child and family goals. An important component is the measurement of neuromotor development and motor control as children on long-term MV are at great risk for global developmental delays that may or may not have a pathophysiologic component. An examination of the child’s functional activity level should include age-appropriate activities of daily living, general mobility skills, communication skills, and an assessment of the child’s role within the family and within the relevant environment. The functional assessment provides an indication of how well the child is integrated into his environment, family, and, if applicable, community. A performance-based assessment or a patient-reported measure may be appropriate. A performance-based standardized developmental assessment or functional assessment tool can be used to quantify achievement of motor milestones or changes in functional mobility skills. No specific tool has been recommended for children dependent on ventilators, and only a few of the currently available tools have been reported to be used in populations in which children were ventilator dependent. When choosing an assessment, therapists should consider the child’s age, as well as the care setting, prognosis, diagnosis, and intended outcomes (e.g., developmental milestones such as rolling, functional skills such as transfers, factors influencing quality of life such as accessing transportation to school), while remembering that standardized developmental assessments seldom take into account factors related to endurance for exercise. See Chapter 2 for information on physical therapy tests and measures. A reexamination will include performing selected tests and measures to evaluate progress in response to parent/caregiver questions or concerns, physical therapist intervention, growth and development, and medical recovery. Reexamination is indicated at times of new clinical findings or failure to respond to physical therapist intervention, or as dictated by the care setting.29 For children dependent on MV, a change in type of ventilator or ventilator settings, or a decrease in the number of hours of ventilator support per day, may warrant a reexamination of aerobic capacity and endurance for motor tasks or the appropriateness of adaptive equipment.

2007

Evaluation and Diagnosis Information gathered during the physical therapy examination should be used for the therapist’s evaluation and determination of a physical therapy diagnosis. Results of the examination should be synthesized to determine the child’s impairments, activity limitations, and participation restrictions, as well as to identify strengths and resources available to minimize disability. Ideally, a multidimensional approach to the use of tests and measures should be employed and the results correlated to relevant activity limitations and participation restrictions interfering with the child’s quality of life. For example, the child with chronic lung disease and mechanical ventilator dependence secondary to BPD may have coexisting neurologic impairments, gastrointestinal abnormalities, and growth disturbance. The physical therapy diagnosis therefore might include developmental delay, aerobic capacity and endurance limitations, and a decreased repertoire of movement patterns. On the other hand, children with the neurologic diagnosis of congenital central hypoventilation syndrome may be otherwise medically stable and at risk for developmental delay only if they are hospitalized for a prolonged time. Thus, at this stage of clinical decision making, diagnostic determinations will vary depending on the age of the child, the severity and chronicity of the lung disease, and the coexisting diagnoses.

Prognosis and Plan of Care The physical therapy prognosis for a child who is dependent on long-term MV may be difficult to establish. The prognosis is the determination of the predicted maximal level of improvement and the estimate of how long it will take the child to achieve that improvement. As this population of children is diverse in its medical diagnoses and age range, the literature base on which to base a prognosis for the reduction of impairments, improvement of function, and facilitation of participation in home and community life is limited. Decisions regarding the mode, intensity, and frequency of activity need to be made in conjunction with other members of the child’s medical team and modified as the disease process changes.

2008

The physical therapist must recognize the potential for adverse physiologic stress when implementing any intervention and the potential impact on the child’s prognosis. The amount and type of motor activities must be individualized and graded to the child’s level of tolerance so that risks associated with the physiologically immature or unstable systems are not magnified. One of the ultimate goals for pediatric physical therapists, however, should be to promote the concept of lifelong health and fitness. Barring any medical contraindication, physical activity in children who are dependent on a ventilator should be encouraged and incorporated into the plan of care. The long-term benefits of physical activity and lifelong fitness include mental health benefits such as improved self-esteem and confidence.61

Physical Therapist Intervention The multiple medical, emotional, educational, and rehabilitative needs of the child with ventilator dependence are beyond the expertise of a single provider and thus require the care and coordination of an interdisciplinary team. This team will include a primary care physician and multiple specialty physicians. Therapists working with a child dependent on long-term MV should routinely communicate with the child, family, other daily caregivers (e.g., nurse, home health aide), and the child’s primary physician. Therapists should also communicate with other medical specialists such as the pulmonologist, physiatrist, orthopedist, and neurologist about the child’s therapy goals and physical response to intervention. Members of the child’s team in the home setting may expand to include a case manager, a respiratory equipment provider, and a durable medical equipment vendor. Additionally, team members in a school setting may include teachers, classroom aides, the school nurse, and transportation personnel (bus driver and monitor[s]). In many states, it is typical for a child with a tracheostomy on a ventilator outside the hospital to have a nurse with him or her at all times. Sharing of successful strategies for communication and motivation, as well as carryover of all rehabilitation goals among physical, occupational, and speech therapists, can facilitate a

2009

successful therapist–client relationship and can enhance a consistent approach to the needs of the child and family. Short-term and long-term goals developed by the team should be formulated in conjunction with the family, while the ultimate goal of maximizing function from a physical, cognitive, social-emotional, and family dynamics perspective is kept in mind. No one intervention strategy or intensity is unanimously embraced by physical therapists for any diagnostic group. Similarly, in the case of children with long-term ventilator dependence, physical therapy varies widely because of differing philosophies of management and the wide range of problem areas that might be identified. Thus, the intent of this section is not to recommend specific interventions but to present a conceptual framework from which one can organize an appropriate plan of care and to emphasize considerations unique to this group of children. Specific interventions are listed and detailed in the Guide to Physical Therapist Practice.29 Table 25.5 summarizes key consideration for physical therapy intervention for children dependent on MV. Before continuing, readers unfamiliar with children requiring long-term mechanical ventilation might want to first view the video accompanying this chapter on Expert Consult that illustrates physical therapist intervention with a 22-month-old girl who is ventilator dependent. Infants and children who are typically developing are capable of using a variable repertoire of motor skills to explore and learn. Motor development in childhood presumes a smooth interaction of the cardiopulmonary and musculoskeletal systems, as well as the necessary cognitive requirements. In the case of a child with chronic respiratory insufficiency, compromised physiologic stability may limit the seemingly endless exploration and practice in which children typically engage. In children with a chronic illness, a reduced capacity for activity or exercise can be a direct or indirect result of their underlying pathophysiologic process. For example, Smith et al.78 reported on a large cohort of school-aged children born very preterm and noted significant impairment in exercise capacity despite evidence of only mild small-airway obstruction and gas trapping. Regardless of the cause, a vicious circle of inactivity may ensue—inactivity with reluctance to move and

2010

explore resulting in decreased endurance and fitness and further inactivity. TABLE 25.5 Considerations for Physical Therapy Interventions Type of Intervention Procedures Airway clearance techniques Breathing strategies for airway clearance Manual/mechanical techniques for airway clearance Positioning Postural drainage Assistive technology Splints, casts, prosthetics, and orthotics Activity of daily living and bathroom technologies (e.g., adaptive commodes, shower benches) Mobility technologies: strollers, standers, and wheelchairs Seating and positioning equipment Transfer technologies (e.g., mechanical lifts) Biophysical agents Biofeedback Taping Electrical stimulation Hydrotherapy Integumentary repair and Debridement protection techniques Dressing selection Orthotic, protective, and supportive device recommendations and modifications Topical agents Manual therapy techniques Manual traction Massage Mobilization/manipulation Passive range of motion Motor function training Balance training Gait training Manual and power wheelchair training Perceptual training Postural stabilization and training Task-specific performance training Vestibular training Therapeutic exercise Aerobic capacity/endurance conditioning or reconditioning Aquatic therapy Developmental activities Flexibility exercises Gait and locomotor training Relaxation techniques Training for strength, power, and endurance Patient or client instruction Activity tolerance, vital sign monitoring, and clinical signs indicating the need for emergency intervention Diagnosis/prognosis Indications for ventilator use and impact of ventilator on motor and mobility skills Positioning, orthotic and equipment use Mobility strategies-home, school, and community transportation options Resources for leisure and recreation activities

2011

Another consideration is that children with long-term MV may associate movement with negative experiences such as fatigue, hypoxia, and pain, which limits their motivation to be active. A major goal of the physical therapist in the management of children who are dependent on ventilators should be secondary prevention —that is, to prevent deprivation of sensory and motor experiences because of inactivity and the various sequelae that result from that deprivation. Regardless of the child’s medical diagnosis, intervention should be aimed at providing a variety of opportunities for movement challenges and for exploration, as well as increasing their function and capacity for exercise. Depending on whether the child has a specific motor impairment, these goals may be accomplished with or without the use of assistive devices. For example, in the case of a child with BPD who also had an intraventricular hemorrhage, adaptive equipment may be needed for positioning because of poor antigravity trunk control or for ambulation because of lower extremity weakness and spasticity. Alternatively, the child with congenital central hypoventilation syndrome and no impairments in motor control may be independent in all motor skills but may exhibit exercise intolerance.

Patient or Client Instruction The pediatric health care environment embraces family-centered care,40 recognizing that family members are the most important people in a child’s life. The role of the family in shaping the child’s environment to be the most conducive for growth and development is crucial. Importantly, from a practical point of view, the child’s life depends on parents’ knowledge of the intensive care needed to maintain the child’s health and safety when dependent on longterm MV. Physical therapists can provide the child, family, and other team members with information about the child’s diagnosis, indications for ventilator use, and the functional abilities of the child. Therapists can also provide consultation on positioning, orthotic and equipment use, activity tolerance, vital sign monitoring, clinical signs indicating the need for emergency intervention, mobility strategies within the home and school environments, transportation options, resources for leisure and recreation activities, and

2012

psychosocial factors affecting intervention.

Airway Clearance Techniques Although therapists often focus on strengthening the muscles of respiration and core trunk muscles, maintaining mobility of the rib cage, spine, and shoulder girdle is important to promote any nonassisted ventilation. Physical therapists select, prescribe, and implement airway clearance techniques that may include breathing strategies for airway clearance, manual/mechanical techniques for airway clearance, positioning, and pulmonary postural drainage. Although the goals of physical therapists are to enhance exercise performance; reduce risk factors and complications; enhance or maintain physical performance; improve cough; improve oxygenation and ventilation; or prevent or remediate impairments in body functions and structures, activity limitations, or participation restrictions, they may also teach a child and family airway clearance techniques and positioning for pulmonary drainage.

Assistive Technology Appropriate assistive technology can minimize caregiver dependence and help children to attain functional skills and mobility unattainable on their own. Assistive technology may also be used to decrease pain, minimize the chance of secondary impairments due to the underlying disease process or immobility, and promote function and participation. Examples of assistive technologies to improve safety, function, and independence include splints, casts, prosthetics, and orthotics; transfer technologies (e.g., transfer boards, mechanical lifts/hoists); activity of daily living and bathroom technologies (e.g., adaptive commodes, shower benches); and strollers, standers, and wheelchairs. Orthoses may be needed to manage joint contractures, maintain joint flexibility, or provide proper alignment of the trunk, feet, legs, and hands or arms. Of particular importance for children who require a trunk orthosis in order to maintain an upright posture or manage a scoliosis is an orthosis that is fabricated to allow the rib cage to expand fully and accommodate a gastrostomy tube. Seating, positioning, and mobility equipment options are

2013

extensive (e.g., custom-molded seating, upper extremity support trays for wheelchairs, prone standers, manual or power wheelchairs). Young children may require specialized adapted strollers with ventilator-carrying capability. Older children may require manual or power wheelchairs adequately outfitted to transport a ventilator. The ventilator and other equipment must be safely secured to the seating system (Fig. 25.3). If the child is ambulatory, a portable ventilator may be transported in a backpack that the child or the care provider can carry. All systems of transport should meet the Federal Motor Vehicle Safety Standard for car seats and bus transport. This includes securing the ventilator on the seat next to the child. In addition, when transporting a ventilator, in the authors’ experience it is common for the child to have a spare tracheostomy tube, Ambu bag, oxygen tank, or portable suction unit with sterile catheters, as well as an external battery for the ventilator.

FIG. 25.3 Portable ventilator is placed on the back of

2014

the wheelchair. (From Panitch HB: Diurnal hypercapnia in patients with neuromuscular disease, Paediatr Respir Rev 11:3-8, 2010.)

Although physical therapists are not the ones who prescribe assistive technology to promote communication for children without speech and those with learning challenges, they may be consulted regarding the design and access of these devices.

Biophysical Agents Biophysical agents—modalities that use various forms of energy primarily to increase muscle force, tissue perfusion, healing or tissue extensibility, or decrease pain or inflammation—may be used in conjunction with other physical therapist interventions.29 There is, however, no evidence supporting or refuting the efficacy of such agents with children dependent on long-term MV. Examples of biophysical agents used with children with neuromuscular diagnoses that may also be applicable for a child with a neuromuscular diagnosis and long-term MV dependence include biofeedback, taping, electrical stimulation, hydrotherapy, and mechanical devices (e.g., standing frame).

Integumentary Repair and Protection Techniques Methods and techniques may include debridement, dressing selection, orthotic selection, protective and supportive device recommendations and modifications, biophysical agents, and topical agents.29 Often because of the multiple medical providers involved with a child who has ventilator dependence, another member of the health care team may be the one to employ several of these techniques. Of particular concern for children with longterm MV is the skin around the tracheostomy, which is at high risk for breakdown due to the moisture and tubing and requires vigilant monitoring.

Manual Therapy Techniques Manual therapy techniques include skilled movements of joints and soft tissue intended to improve tissue extensibility; increase range of motion; induce relaxation; mobilize joints; and reduce pain, swelling, inflammation.29 Techniques may include manual traction,

2015

massage, mobilization/manipulation, and passive range of motion. The child’s dependence on a ventilator does not in itself prohibit the use of these techniques if indicated.

Motor Function Training Motor function training is the systematic performance or execution of planned physical movements, postures, or activities. Motor function training may include balance training, both static and dynamic; gait training; manual and power wheelchair training; perceptual training; task-specific performance training; vestibular training; and postural stabilization and training.29 Physical therapists commonly use motor function training activities for children with neuromuscular diagnoses; thus, these methods may be applicable for the plan of care for children with long-term MV dependence.

Therapeutic Exercise Therapeutic exercise may include the following: aerobic capacity/endurance conditioning or reconditioning; developmental activities training; aquatic therapy; flexibility exercises; gait and locomotor training; relaxation techniques; and training for strength, power, and endurance for head, neck, limb, pelvic-floor, trunk, and ventilator muscles (active, active-assistive, and resistive exercises). This broad group of activities is intended to improve strength, flexibility, muscular and cardiorespiratory endurance, balance, coordination, posture, and motor function or development. Simply stated, the “normal” response to exercise is an increase in heart rate, followed by a return to baseline. Ventilation also increases linearly with the metabolic rate until approximately 60% of oxygen consumption, at which time it increases more rapidly (see Chapter 6 for a summary of the cardiorespiratory and musculoskeletal components of exercise and fitness). These relationships, as well as the other physiologic processes that support adequate ventilation and perfusion during exercise, are altered in conditions of lung disease. Whereas exercise is normally cardiac limited, in individuals with chronic lung disease, exercise may be ventilator limited as a result of deficient exercise capacity and gas exchange or poor pulmonary mechanics. The optimal level

2016

of physical activity for children with chronic lung disease, however, is not related to disease severity.80 Response to exercise and capacity for improvement, therefore, are evaluated for each child. The beneficial effects of exercise have been documented in certain populations with respiratory conditions such as individuals with cystic fibrosis50 (see Chapter 26) and asthma (see Chapter 27).21 No group design study has examined active exercise and strength training for children who require MV. Strength training has been found to be useful for children with neurologic and neuromuscular disorders.25 As with any health condition, exercise limitations and restrictions should be determined before the start of an exercise program, and with all exercise, children should be supervised closely to avoid musculoskeletal injury, excessive heart and respiratory rate, and dislodgement of tubing. In infants and children dependent on MV, physical activity can be viewed as exercise and a means of improving endurance and tolerance for movement. There is a paucity of research on the effect of developmental interventions on cardiopulmonary function and exercise tolerance. In one study investigating physical therapist intervention activities and cardiorespiratory response for young children with chronic respiratory insufficiency, sitting activities were the most frequently applied and prone activities were used the least.18 Ventilator dependence often dictates limited movement and mobility if the child must remain close to a nonmobile ventilator. For example, time spent in a prone position is often limited and may occur only during physical therapy. Exercise and activity in a prone position are useful for strengthening the neck and shoulder girdle musculature and for developing righting reactions. Rotational movements and crossing the midline of the body are important for many functional activities but are often constrained by the child’s ventilator tubing. For children of all ages, upright positioning in sitting or standing is important for physiologic function and bone density and should be encouraged when developmentally and medically appropriate. Activities such as pulling to stand and cruising may occur in a crib if a young child is in the hospital with limited opportunities for playtime on the floor.17

2017

Summary Children dependent on long-term MV have complex medical conditions including prematurity and chronic lung disease, cardiac conditions, congenital anomalies, and, most commonly, neuromuscular and neurologic conditions. The prevalence of infants and children dependent on MV continues to increase due to medical and technological advancements. Children requiring longterm MV are at high risk for secondary illness, recurring hospitalizations, global developmental delays, tracheostomyrelated complications, and equipment failure. Minimizing a child’s dependence on MV has important benefits for the quality of life of both the child and the family. This includes a reduction in hospital stays, improved physical and mental health, and more opportunities for social participation. There is limited evidence on how often successful weaning from a ventilator is achieved. Physical therapists have an important role in fostering the health and development of infants, children, and youth with chronic respiratory failure and supporting families. Once the decision is made to begin artificial ventilation, prevention and treatment of associated complications are primary goals of medical and rehabilitation management. Although the type and intensity of intervention varies, desired outcomes of physical therapy include maximizing children’s mobility, self-care, and participation. Some physical therapist interventions are medically related, such as percussion and postural drainage. A major focus of physical therapist interventions is to integrate goals into everyday activities and support the family in managing the child’s health and developmental needs. The ecologic validity of intervention increases if goals are made a part of daily activities and routines. Physical therapists are encouraged to participate in clinical research to contribute to the evidence supporting management of children who require long-term ventilation. Research is needed to determine effective program planning, program improvements, and appropriate resource utilization, and to set outcome expectations for infants, toddlers, and children dependent on longterm MV. Additional research questions may involve the impact of rehabilitation interventions on the weaning process and the impact

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of rehabilitation interventions on quality-of-life outcomes for children and their families.

Case Scenario on Expert Consult Two case scenarios on the Expert Consult website illustrate the physical therapy management of children who require long-term mechanical ventilation. The first case is a video of a 22-month-old child with Mobius syndrome and central respiratory dysfunction. The second case describes a 24-month-old child with chronic lung disease using the Guide to Physical Therapist Practice and the International Classification of Functioning, Disability and Health as frameworks. The case scenario related to this chapter illustrates the physical therapy management of a child requiring long-term MV who has several comorbidities.

References 1. Reference deleted in proofs. 2. Allen J. Pulmonary complications of neuromuscular disease: a respiratory mechanics perspective. Paediatr Respir Rev. 2010;11:18–23. 3. Bach J.R, et al. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil. 2007;86:339–345. 4. Benneyworth B.D, et al. Inpatient health care utilization for children dependent on long-term mechanical ventilation. Pediatrics. 2011;127:e1533–e1541. 5. Berry-Kravis E.M, et al. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006;174:1139–1144. 6. Bertrand P, et al. Home ventilatory assistance in Chilean children: 12 years’ experience. Arch Bronconeumol. 2006;42:165–170. 7. Bhandari V, Gruen J.R. The genetics of bronchopulmonary dysplasia. Semin Perinatol. 2006;30:185–191. 8. Boroughs D, Dougherty J.A. Decreasing accidental

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mortality of ventilator-dependent children at home: a call to action. Home Healthc Nurse. 2012;30:103–111. 9. Reference deleted in proofs. 10. Reference deleted in proofs. 11. Carrozzi L, Make B. Chronic respiratory failure as a global issue. In: Ambrosino N, Goldstein R, eds. Ventilatory support for chronic respiratory failure: lung biology in health and disease. vol. 225. New York: Informa Healthcare; 2008:27–38. 12. Cockett A. Technology dependence and children: a review of the evidence. Nurs Child Young People. 2012;24:32–35. 13. Com G, et al. Outcomes of children treated with tracheostomy and positive-pressure ventilation at home. Clin Pediatr (Phila). 2013;52:54–61. 14. Como J.J, et al. Characterizing the need for mechanical ventilation following cervical spinal cord injury with neurologic deficit. J Trauma. 2005;59:912–916. 15. Cristea A.I, et al. Outcomes of children with severe bronchopulmonary dysplasia who were ventilator dependent at home. Pediatrics. 2013;132:e727–e734. 16. Dieperink W, et al. Walking with continuous positive airway pressure. Eur Respir J. 2006;27:853–855. 17. Dudek-Shriber L, Zelazny S. The effect of prone positioning on the quality and acquisition of developmental milestones in four-month old infants. Pediatr Phys Ther. 2007;19:48–55. 18. Dumas H.M, et al. Cardiorespiratory response during physical therapist intervention for infants and young children with chronic respiratory insufficiency. Pediatr Phys Ther. 2013;25:178–185. 19. Dybwik K, et al. Fighting the system: families caring for ventilator-dependent children and adults with complex health care needs at home. BMC Health Serv Res. 2011;11:156. 20. Edwards E.A, et al. Paediatric home ventilatory support: the Auckland experience. J Paediatr Child Health. 2005;41:652– 658. 21. Fanelli A, et al. Exercise training on disease control and quality of life in asthmatic children. MedSci Sports Exerc. 2007;39:1474–1480.

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22. Fauroux B, Khirani S. Neuromuscular disease and respiratory physiology in children: putting lung function into perspective. Respirology. 2014;19:782–791. 23. Fragala-Pinkham M.A, et al. Evaluation of an adaptive ice skating programme for children with disabilities. Dev Neurorehabil. 2009;12:215–223. 24. Fragala-Pinkham M.A, et al. A fitness program for children with disabilities. Phys Ther. 2005;85:1182–1200. 25. Fragala-Pinkham M.A, et al. Evaluation of a communitybased group fitness program for children with disabilities. Pediatr Phys Ther. 2006;18:159–167. 26. Gowans M, et al. The population prevalence of children receiving invasive home ventilation in Utah. Pediatr Pulmonol. 2007;42:231–236. 27. Graham R.J, et al. Chronic ventilator need in the community: a 2005 pediatric census of Massachusetts. Pediatrics. 2007;119:e1280–e1287. 28. Reference deleted in proofs. 29. Guide to pysical therapist practice 3.0. Alexandria, VA: American Physical Therapy Association; 2014 Available at:. http://guidetoptpractice.apta.org/ Accessed August 5, 2015. 30. Hefner J.L, Tsai W.C. Ventilator-dependent children and the health services system: unmet needs and coordination of care. Ann Am Thorac Soc. 2013;10:482–489. 31. Hsia S.H, Lin J.J, Huang I.A, Wu C.T. Outcome of long-term mechanical ventilation support in children. Pediatr Neonatol. 2012;53:304–308. 32. Hull E.M, et al. Tracheostomy speaking valves for children: tolerance and clinical benefits. Pediatr Rehabil. 2005;8:214– 219. 33. Reference deleted in proofs. 34. Jurgens V, et al. Hospital readmission in children with complex chronic conditions discharged from subacute care. Hosp Pediatr. 2014;4:153–158. 35. Kendirli T, et al. Mechanical ventilation in children. Turk J Pediatr. 2007;48:323–327. .

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36. Kharasch V.S, et al. Bronchoscopy findings in children and young adults with tracheostomy due to congenital anomalies and neurological impairment. J Pediatr Rehabil Med. 2008;1:137–143. 37. Kissoon N, Adderley R. Noninvasive ventilation in infants and children. Minerva Pediatr. 2008;60:211–218. 38. Koumbourlis A.C. Chest wall abnormalities and their clinical significance in childhood. Paediatr Respir Rev. 2014;15:246–255. 39. Krcmar S. Room to breathe, RT: for decision makers in respiratory care, Overland Park, Kansas. Allied Media, LLC. 2006. 40. Kuo D.Z, et al. Family-centered care: current applications and future directions in pediatric health care. Matern Child Health J. 2012;16:297–305. 41. Lai D, Schroer B. Haddad syndromes: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. J Child Neurol. 2008;23:341–343. 42. Lesser D.J, et al. Congenital hypoventilation syndromes. Sem Respir Crit Care Med. 2009;30:339–347. 43. Lindahl B, Lindblad B.M. Family members’ experiences of everyday life when a child is dependent on a ventilator: a metasynthesis study. J Fam Nurs. 2011;17:241–269. 44. Reference deleted in proofs. 45. Reference deleted in proofs. 46. Mah J.K, et al. Parental stress and quality of life in children with neuromuscular disease. Pediatr Neurol. 2008;39:102– 107. 47. Maitre N.L.,R, et al. Respiratory consequences of prematurity: evolution of a diagnosis and development of a comprehensive approach. J Perinatol. 2015;35:321. 48. Mayer O.H. Chest wall hypoplasia: principles and treatment. Paediatr Respir Rev. 2015;16:30–34. 49. McDougall C.M, et al. Long-term ventilation in children: longitudinal trends and outcomes. Arch Dis Child. 2013;98:660–665. 50. McIlwane M. Chest physical therapy, breathing techniques and exercise in children with CF. Paediatr Respir

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Rev. 2007;8:8–16. 51. Meltzer L.J, et al. The relationship between home nursing coverage, sleep and daytime functioning in parents of ventilator-assisted children. J Pediatr Nurs. 2010;25:250–257. 52. Mesman G.R, et al. The impact of technology dependence on children and their families. J Pediatr Health Care. 2013;27:451–459. 53. Moffat M, Frownfelter D. Cardiovascular/pulmonary essentials: applying the preferred physical therapist practice patterns. Thorofare, NJ: Slack; 2007. 54. Reference deleted in proofs. 55. Nitu Mara E, Eigen H. Respiratory failure. Pediatr Rev. 2009;30:470–478. 56. Noah Z.L, Budek C.E. Chronic severe respiratory insufficiency. In: Marx J.A, Hockberger R.S, Walls R.M, eds. ed 8. Rosen’s emergency medicine. Philadelphia: Saunders; 2014 (imprint of Elsevier). 57. Noyes J. Health and quality of life of ventilator-dependent children. J Adv Nurs. 2006;56:392–403. 58. O’Brien J.E, et al. Weaning children from mechanical ventilation in a post-acute setting. Pediatr Rehabil. 2006;9:365–372. 59. O’Brien J.E, et al. Ventilator weaning outcomes in chronic respiratory failure in children. Int J Rehabil Res. 2007;30:171– 174. 60. Oktem S, et al. Home ventilation for children with chronic respiratory failure in Istanbul. Respiration. 2007;76:76–81. 61. O’Neil M.E, et al. Community-based programs for children and youth: our experiences in design, implementation, and evaluation. Phys Occup Ther Pediatr. 2012;32:111–119. 62. O’Reilly M, et al. Impact of preterm birth and bronchopulmonary dysplasia on the developing lung: longterm consequences for respiratory health. Clin Exp Pharmacol Physiol. 2013;40:765–773. 63. Ottonello G, et al. Home mechanical ventilation in children: retrospective survey of a pediatric population. Pediatr Int. 2007;49:801–805. 64. Overman A.E, et al. Tracheostomy for infants requiring

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prolonged mechanical ventilation: 10 years’ experience. Pediatr. 2013;131:e1491–e1496. 65. Reference deleted in proofs. 66. Panitch H.B. Children dependent on respiratory technology. In: Wilmott R.W, et al., ed. Kendig & Chernick’s disorders of the respiratory tract in children. 2012 Philadelphia: Elsevier. 67. Peterson-Carmichael S.L, Cheifetz I.M. The chronically critically ill patient: pediatric considerations. Respir Care. 2012;57:993–1002. 68. Philip A.G.S. Bronchopulmonary dysplasia: then and now. Neonatology. 2012;102:1–8. 69. Preutthipan A. Home mechanical ventilation in children. Indian J Pediatr. 2015;82:852–859. 70. Racca F, et al. Invasive and non-invasive long-term mechanical ventilation in Italian children. Minerva Anestesiologica. 2011;77:892–901. 71. Reference deleted in proofs. 72. Reference deleted in proofs. 73. Rsovac S, et al. Complications of mechanical ventilation in pediatric patients in Serbia. Adv Clin Exp Med. 2014;23(1):57–61. 74. Sarnaik A.P, et al. Chapter 71. In: Marx J.A, et al., ed. ed 8. Rosen’s emergency medicine. Philadelphia: Saunders; 2014 (imprint of Elsevier). 75. Sharma H, et al. Treatments to restore respiratory function after spinal cord injury and their implications for regeneration, plasticity and adaptation. Exp Neurol. 2012;235:18–25. 76. Reference deleted in proofs. 77. Reference deleted in proofs. 78. Smith L.J, et al. Reduced exercise capacity in children born very preterm. Pediatrics. 2008;122:e287–e293. 79. Srinivasan R, et al. A prospective study of ventilatorassociated pneumonia in children. Pediatrics. 2009;123:1108– 1115. 80. Sritippayawan S, et al. Optimal level of physical activity in children with chronic lung disease. Acta

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Paediatrica. 2008;97:1582–1587. 81. Traiber C, et al. Profile and consequences of children requiring prolonged mechanical ventilation in three Brazilian pediatric intensive care units. Pediatr Crit Care Med. 2009;10:375–380. 82. Van den Broek M.J, et al. Chiari type I malformation causing central apnoeas in a 4-month-old boy. Eur J Pediatr Neurol. 2008;13:463–465. 83. van Kaam A.H, et al. Ventilation practices in the neonatal intensive care unit: a cross-sectional study. J Pediatr. 2010;157:767–771. 84. Venkataraman S.T. Mechanical ventilation and respiratory care. In: Fuhrman B.P, Zimmerman J.J, eds. Pediatric critical care. ed 4. Philadelphia: Elsevier; 2012. 85. Vo P, Kharasch V.S. Respiratory failure. Pediatr Rev. 2014;35:476–486. 86. vom Hove M, et al. Pulmonary outcome in former preterm, very low birth weight children with bronchopulmonary dysplasia: a case-control follow-up at school age. J Pediatr. 2014;164:40–45 e4. 87. von Renesse A, et al. Respiratory syncytial virus infection in children admitted to hospital but ventilated mechanically for other reasons. J MedVirol. 2009;81:160–166. 88. Wallis C, et al. Children on long-term ventilatory support: 10 years of progress. Arch Dis Child. 2011;96:998–1002. 89. Reference deleted in proofs. 90. White A.C. Long-term mechanical ventilation: management strategies. Respir Care. 2012;57:889–899. 91. Wilmott R.W. Long-term respiratory impairment with the new Bpd. J Pediatr. 2014;164:1–3. 92. Wocadlo C, Rieger I. Motor impairment and low achievement in very preterm children at eight years of age. Early Human Dev. 2008;84:769–776. 93. Reference deleted in proofs. 94. Reference deleted in proofs.

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Cystic Fibrosis Jennifer L. Agnew, and Blythe Owen

The increasing life expectancy of individuals with cystic fibrosis (CF) and continuing advances in treatment have contributed to an expanded role of the physical therapist as a member of a multidisciplinary health care team. In this chapter, background information is presented on pathophysiology, etiology, diagnosis, and medical management of CF that is critical for setting goals, developing, and modifying the physical therapy plan of care. The role of the physical therapist in promoting self-management of respiratory function and physical activity beginning at a young age and progressing through childhood, adolescence, and adulthood is discussed. Supporting families and children’s self-efficacy are essential components of intervention to promote well-being and quality of life.

Background Information CF was identified in 1928, when Andersen published a paper describing the clinical course of a number of children who had died of pulmonary and digestive problems. She labeled the disorder “cystic fibrosis of the pancreas.”5 This disease thereafter was classified as a disorder of exocrine gland function, influencing the respiratory system, pancreas, reproductive organs, and sweat glands. At times the first presenting sign has been the subjective report, “My child tastes salty to kiss”; the “sweat test” often confirms the diagnosis. Subsequent study and interest led to a

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clearer understanding of the disease and a coordinated approach to treating the associated impairments. Over time the disorder that had so intrigued Andersen has come to be known as cystic fibrosis, and research has continued, yielding vast knowledge about this chronic illness. Classified as a hereditary disease, CF is inherited through an autosomal recessive pattern in which two copies of the gene responsible for CF are passed on to an affected individual. Both parents of a child diagnosed with CF must be carriers of at least one copy of a mutation at the gene locus responsible for CF. Those persons with one copy of the CF gene are termed heterozygote carriers and are not diagnostically positive for CF. In 1989 a major scientific breakthrough occurred with discovery of the precise locus on chromosome 7 of the gene responsible for CF.169 The pathology of the physical manifestations of CF has since been determined. Although cystic fibrosis was once referred to the most commonly inherited life-shortening illness in the Caucasian population, advances in its management have improved the quality of life and prognosis for life expectancy.55 In the United States, 45% of the approximately 30,000 individuals diagnosed with CF are over the age of 18; therefore CF is no longer thought of as exclusively a childhood disease. The median predicted age of survival for individuals with CF is currently 41.1 years in the United States.151,198 An increasing number of people with CF are reaching the fifth decade of life; the median age of survival in Canada is 50.9 years.46 Surgical advances in lung transplantation offer hope of prolonging life for people with chronic pulmonary disabilities. CF is diagnosed in 1 in 3500 children born to white American parents, and statistical analysis of this incidence yields a best estimate of the rate of heterozygote carriers as about 5% of the population in areas of the world where significant white populations have settled.19,147 The incidence of CF in black and Asian peoples is considerably lower than that in whites: approximately 1 in 17,000 births in the black population and an estimated 1 in 90,000 births in Asian societies.19 Several reports have documented the incidence of CF in the South Asian population, estimated to be 1 in 10,000 to 1 in 40,750.125 Recent research and carrier screening are producing more precise statistical estimates of

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the incidence of individuals who are heterozygote CF carriers, suggesting that previous rates were underestimated.210 Prenatal diagnosis of CF is now possible, as is screening for carrier status, which is discussed in detail later in this chapter. The gene responsible for CF was identified in 1989 by an international team of researchers led by Drs. Tsui, Collins, and Riordan.93 This discovery was an extraordinary achievement in molecular genetics and has led to subsequent research advances in the understanding of genetic and pathologic components of CF worldwide. Approximately 2000 distinct mutations within the CF gene have been identified in many ethnic groups, although fewer than 10 mutations occur with a frequency greater than 1%.182 The trinucleotide deletion, delta-F508, is the most common mutation associated with clinical CF, occurring in 66% of patients worldwide.166 This mutation results in loss of the amino acid phenylalanine from the product protein, which ultimately affects its production, regulation, and/or function. The specific genetic mutation can now be used to predict the severity of lung disease and the prognosis in terms of survival.43,124 Specialized health care is most often provided through regional CF centers. Comprehensive treatment programs for CF were established over 55 years ago59 and are the primary mode of delivery of specialized health care. CF centers changed the practice of focusing on the treatment of ongoing disease to taking a proactive approach of early intervention, maintenance of health, and preservation of lung function.198 CF centers can offer their clients the services of respirologists, gastroenterologists, physical therapists, respiratory therapists, pharmacists, dietitians, genetic counselors, social workers, psychologists, exercise physiologists, and specialty care nursing personnel. The multidisciplinary team is dedicated to the delivery of the most effective and palatable treatments and promoting the optimal level of well-being for patients with CF and their families. CF centers worldwide work collaboratively in sharing their clinical expertise and their knowledge base to develop new treatment possibilities and to renew hopes for an ultimate cure for CF. Definitions of key terms used in the chapter are provided in Box 26.1.

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Pathophysiology The CF gene defect leads to absent or malfunctioning of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which results in abnormal chloride conductance on the epithelial cell. The main organ systems affected are the respiratory system and the gastrointestinal system, although the reproductive system, sinuses, and sweat glands are also impaired. Blockage of exocrine glands prevents the delivery of their product to target tissues and organs and creates clinical abnormalities in these body systems. In the lung, abnormal CFTR protein leads to depletion of the airway surface liquid layer (ASL) due to obstruction of mucus secreting exocrine glands and hyperviscous secretions, which can lead to ciliary collapse and decreased mucociliary transport. The accumulation of hyperviscous secretions leads to progressive airway obstruction, secondary infection by opportunistic bacteria, inflammation, and subsequent bronchiectasis and irreversible airway damage. This vicious cycle can be complicated by bronchoconstriction of the airways and chronic lung hyperinflation. Deconditioning of the respiratory muscles and malnutrition also affect the functional limitations of the respiratory system.166 Obstruction of the small airways in CF and subsequent air trapping and atelectasis result in ventilation and perfusion mismatch, which leads to hypoxemia. Long-standing hypoxemia may result in pulmonary artery hypertension and cor pulmonale or right ventricular failure. Large airway bronchiectasis combined with small airway obstruction reduces vital capacity and tidal volume and results in decreased volumes of airflow at the alveolar level. Consequently, progressively increasing arterial carbon dioxide concentration (PaCO2) occurs, which may lead to hypercapnic respiratory failure. Respiratory failure accounts for 95% of the mortality rate in CF.143

B O X 2 6 . 1 Definitions

of Key Terms

Airway Clearance: Cardiopulmonary techniques used to open up

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the airways and to loosen, unstick, collect, and mobilize secretions from the peripheral airways to the central airway to promote mucus transport in the lungs. Cystic Fibrosis: Autosomal recessive disorder that results from the 2 CFTR mutations. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR): A protein channel that transports negatively charged chloride ions across the membrane of exocrine cells, resulting in the movement of water and other ions across the epithelial cell membrane. In the lung the balance of ions and water hydrate the airway surface liquid layer to support ciliary stability and functioning and ultimately to promote mucociliary transport. Exercise Testing: An objective exercise assessment used to evaluate physical limitations and aerobic capacity, in which the results can be used to make recommendations for an individualized exercise program. Forced Expiratory Volume in 1 sec (FEV1): The amount of air that is forcefully expired in 1 second during spirometry. Inhalation Therapy: The administration of aerosolized medications with proper breathing technique. Pulmonary Function Tests: A group of tests that assess how well the lungs are working; determine how much air the lungs can hold, how well air moves in and out of the lungs, and how efficient gas exchange is. Sweat Chloride Test: Clinical diagnostic test used to detect elevated chloride levels in sweat and help make a diagnosis of cystic fibrosis. In the gastrointestinal tract, viscous secretions begin to obstruct the pancreatic duct in utero, and periductal inflammation and fibrosis cause the loss of pancreatic exocrine function. The resulting maldigestion of fats and proteins results in steatorrhea and the excretion of excessive quantities of fat in the stools.60 The stools are described as bulky, frequent, and “greasy” and as having a strongly offensive odor. Infants with CF can display evidence of proteincalorie malnutrition with a protruding abdomen, muscle wasting, and initial diagnosis of failure to thrive despite reports from parents of hearty appetites.111 Compensating for loss of pancreatic function

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remains a critical feature of management throughout the life span. Another pathologic finding that presents in 10% to 20% of individuals with CF is meconium ileus, which is demonstrated in neonates.133 The combination of abnormal pancreatic function and hyperviscous secretions of the intestinal glands creates an altered viscosity of the meconium, which causes an obstruction at the distal ileum, thus preventing passage of meconium in the first neonatal days.111 Distal intestinal obstruction syndrome (DIOS) is seen in some older patients, associated with abnormal intestinal secretions and increased adherence of mucus in the intestines.35 Hepatobiliary disease has been reported with greater frequency among patients with pancreatic insufficiency. CF-related liver disease occurs in up to 30% of people with CF, but it is a significant clinical problem only in the minority of individuals (cirrhosis, portal hypertension). Patients with CF and pancreatic sufficiency have an increased risk of developing acute pancreatitis.62 CF-related diabetes mellitus (CFRD) is a systemic complication whose prevalence increases with age. CFRD occurs in 2% of children, 19% of adolescents, and 40% to 50% of adults. Incidence and prevalence are higher in females age 30 to 39, but otherwise, no gender difference is noted.128 In the reproductive system, obstruction of the vas deferens causes infertility in 98% of males with CF.35 Older studies reported that the fertility rate for females with CF was 20% to 30% of normal, but more recent data have suggested that the reproductive tract is normal in most women with CF. Therefore females with CF who have good weight and lung function can expect to have normal hormone levels that contribute to regular ovulation and menstruation. The only mechanical barrier present in females with CF is the cervical mucous plug.61 In the upper respiratory tract, chronic pansinusitis occurs in 99% of individuals with CF and contributes to the infection of the lower respiratory tract by acting as a reservoir of infection. Sinusitis may cause persistent headache and nasal polyps occur in 6% to 40% of patients and can recur after initial resection.35 Hypertrophic pulmonary osteoarthropathy is often associated with advanced severity of pulmonary disease and is most noticeable in the clinical finding of “clubbing,” or rounded hypertrophic changes in the

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terminal phalanges of the fingers and toes.110 Osteopenia is present in up to 85% of adult patients, and osteoporosis in 10% to 34%. In children, the reported prevalence is not consistent because of comparisons with different control populations and corrections for bone size in growing children.180

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Etiology The cause of CF is traced to the abnormal gene product, CFTR protein, which seems to be most abundantly expressed in the apical membrane surface of epithelial cells of the respiratory, gastrointestinal, and reproductive systems and in the sweat glands. Normal epithelial cells secrete fluid by allowing chloride ions (negatively charged) to pass through the luminal membrane of the cell. Because this membrane is permeable to sodium ions (positively charged), they passively follow; increased levels of sodium chloride then stimulate fluid secretion. Fluid levels in the airways must be maintained at a sufficient level to provide for normal mucociliary transport. There are 6 different classes of CFTR mutations: i) defective synthesis of the protein; ii) defective protein processing and trafficking; iii) defective CFTR channel gating; iv) defective protein channel conductance; v) reduced synthesis of CFTR; vi) high CFTR protein turnover at the cell surface.22,53 The consequence is an electrolyte abnormality (chloride impermeability and sodium hyperpermeability) that leads to excessive amounts of fluid being removed from the airway lumen, resulting in reduced airway surface liquid (ASL) volume and underhydrated mucus. These impairments, in turn, lead to impaired mucociliary clearance and retention of mucus in the lower airways.21,111 Abnormal expression or regulation of the CFTR protein in airway epithelial cells is the primary cause of the respiratory manifestations of CF.

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Diagnosis Early diagnosis, including prenatal determination of the presence of the CF gene mutation, has enabled researchers to follow the expression and progression of the disease from birth in many patients. Impairment of the respiratory system may not manifest immediately, and at birth the lungs often appear normal on radiologic examination. A history of respiratory illness such as repeated respiratory tract infections, recurrent bronchiolitis, or even pneumonia is often reported, but in 80% of newly diagnosed cases, no family history of CF is known.111 Chest CT scans can detect infection and inflammation that are present in a significant proportion of infants with CF at 3 months of age, and it has been shown that these early structural changes are progressive. Dilation and hypertrophy of mucus-secreting goblet cells begin early in life, leading to subsequent impaired mucociliary clearance, obstructive mucous plugs, air trapping, atelectasis, and bronchiectasis, which all reflect abnormal ventilation and perfusion. Data from CT scans have been correlated with survival and health-related quality of life; it can also be used to identify children at risk for worse pulmonary outcomes and may help to guide treatment.192 A diagnosis of CF is made if the patient has one or more clinical features of the disease, a history of CF in a sibling, or a positive newborn screening test, plus laboratory evidence of an abnormality in the CFTR gene or protein. Acceptable evidence of a CFTR abnormality includes biologic evidence of channel dysfunction (i.e., abnormal sweat chloride concentration or nasal potential difference) or identification of a CF disease-causing mutation in each copy of the CFTR gene (i.e., on each chromosome).64 An elevated level of sodium chloride in the sweat has been the principal diagnostic indicator for CF for more than 50 years.70 A positive sweat test occurs if the chloride concentration is greater than 60 mmol/L or is within the intermediate range (30–59 mmol/L for infants younger than 6 months of age and 40–59 mmol/L for older individuals).147 In a few centers with specialized laboratory and trained personnel, another diagnostic test, nasal potential difference (PD), is

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possible. This test measures the electrical charge (potential difference) across the epithelial surface (mucous membrane) of the nose. In normal subjects, a small charge of −5 to −30 mV is present, whereas subjects with CF demonstrate values between −40 and −80 mV.143 The degree of CFTR dysfunction as measured by the nasal PD correlates with the number and severity of CFTR gene mutations.192 Screening tests for prospective parents who are known carriers (with prior offspring with CF or with CF themselves) are now possible and raise a number of ethical issues when CF is suggested prenatally. Genetic counseling therefore is available at CF centers. Analysis of the blood of known heterozygote parents and of tissue from the fetus obtained through amniocentesis or chorionic villus sampling can determine the presence of the CF gene mutation common to the family history. Newborn screening is being performed increasingly in many states and provinces within North America and around the world. A sample of blood is taken, and the IRT/DNA test is a two-stage test that is used to screen for CF. The first stage of the test looks for high levels of an enzyme called IRT (immunoreactive trypsinogen) in the blood sample from the baby’s foot. If the amount of IRT is above a certain level, a DNA test is performed on the same blood sample. The DNA test looks for the most common genetic mutations associated with CF. A positive finding indicates that the child is at increased risk of CF and a sweat test must be performed to confirm the diagnosis. Without the onset of newborn screening, children with CF were not diagnosed with the disease until they became symptomatic with respiratory signs or failure to thrive. Several studies have shown that newborn screening for CF leads to improved nutritional outcomes, which in turn lead to improved pulmonary outcomes later in life.147 The diagnosis of CF may even be discovered in adulthood because these patients usually present with milder lung disease and pancreatic sufficiency. Their diagnosis is often delayed because of the belief that CF is a pediatric disease and the finding that some adults have normal to borderline sweat test results. The criteria for making a diagnosis are the same for adults and children.213

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Medical Management Individuals with CF should be followed periodically at CF clinics (usually every 3–4 months, although this can vary) by a multidisciplinary team; this practice has contributed to increasing life expectancy.55 To determine the plan of care for each individual, the clinical team evaluates the radiologic assessment, pulmonary function testing (PFT), sputum cultures, nutritional status and patterns of weight loss, blood analysis, exercise testing, and subjective reports of treatment adherence. All of these findings help the team address the changing therapeutic needs of patients with CF and initiate treatment regimens with the aim of preventing or slowing development of functional limitations. Increased frequency of monitoring and increased use of appropriate medications have been associated with an improvement in forced expired volume in 1 second (FEV1: see section on measuring pulmonary function) in CF centers.89 Morbidity in individuals with CF is primarily related to deteriorating pulmonary status. The treatment of CF lung disease aims to decrease airway obstruction due to chronic bronchorrhea (abnormal mucous secretions) and the progressive inflammation that occurs secondary to chronic bacterial infection.112 Irreversible airway damage is caused by bacteria that infect the respiratory tract at an early age (which may be difficult to eradicate) and the associated aggressive host inflammatory response. The development of antibiotic resistance after multiple antibiotic courses leads to chronic persistent infection. In infants and younger children, Staphylococcus aureus and Haemophilus influenzae predominate, although the most common CF pathogen is Pseudomonas aeruginosa. It has been suggested that inhaled P. aeruginosa has a high affinity for CF airways, which may explain the high prevalence of this organism in patients with CF. Some bacteria such as P. aeruginosa and Burkholderia cepacia complex can also produce biofilms that protect themselves, explaining the persistence of bacterial infection in the majority of CF patients despite attempts at eradication.52 Chronic Pseudomonas infection is associated with a reduction in lung function and a poorer prognosis.134

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Antibiotic therapy appears to have significantly influenced the effects of the chronic endobronchial infection that typifies CF and has been a mainstay of treatment regimens for over 60 years.55 Optimally, the choice of antibiotics should be based on the results of sputum culture and sensitivity tests.19 Sputum cultures show infection by a number of organisms in a common pattern that changes with severity of disease and with the age of the patient. Opportunistic bacteria, such as P. aeruginosa, S. aureus, H. influenzae, B. cepacia complex, Stenotrophomonas maltophilia, and Achromobacter xylosoxidans, are the organisms most frequently seen. Combinations of infectious organisms are common, particularly when disease severity and age of the patient advance. Some evidence suggests that early and vigorous use of antibiotics produce better results than delaying their administration until symptoms are well developed or advanced.19 Inhaled antibiotics, such as tobramycin and colistin, are beneficial in suppressing bacterial pulmonary infection because aerosolized medications can be delivered in higher doses directly to the airways while minimizing systemic exposure and toxicity. Ramsey and colleagues showed that inhaled preservative-free tobramycin twice a day resulted in a significant increase in FEV1 and a 36% reduction in the use of intravenous antibiotics for pulmonary exacerbations.4,164 In the Early Intervention TOBI Eradication (ELITE) trial, a 1-month course of inhaled TOBI (preservative-free tobramycin solution) monotherapy achieved an eradication rate > 90%. Approximately 70% of patients remained culture-negative for > 800 days after the short-course eradication protocol. Inhaled antipseudomonal antibiotics have been associated with improved quality of life, decreased risk of pulmonary exacerbation, improved pulmonary function, and decreased mortality.65 Delaying the onset of chronic P. aeruginosa and the development of a mucoid strain may help to preserve lung function over the longer term.167 Intravenous antibiotics such as ceftazidime and other aminoglycosides are used to target Pseudomonas infections in hospitalized patients when oral or inhaled antibiotics do not improve their respiratory symptoms related to a pulmonary exacerbation. The combination of IV antibiotics with intensified airway clearance was shown to improve lung function more than

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with IV antibiotics alone.17 Nebulized aztreonam (Cayston) is a relatively new inhaled antibiotic that has been shown to improve lung function and respiratory symptoms such as decreased cough, sputum, and wheezing in patients with CF. The drug is prescribed three times daily and must be taken with a special nebulizer system, the e-flow device that is a type of vibrating mesh technology.2 B. cepacia complex is made of 9 different species (e.g., B. cenocepacia, B. multivorans) and is an opportunistic pathogen in individuals with CF and other compromised hosts.111 B. cepacia complex is recognized as a particularly virulent pathogen because of its high level of intrinsic antibiotic resistance, its tenacity to persist in the lungs, and its association with more advanced pulmonary disease. Synergy studies combining antibiotics may help identify a more effective antimicrobial therapy.24 B. cepacia complex is highly transmissible from person to person, which has led to initiation of segregation practices and attempts to control cross-contamination of equipment in many centers. Infection with B. cepacia complex can cause a rapid decline in pulmonary function and can increase mortality fourfold in individuals with CF, due to the possibility of a sepsislike condition.35 An organism that can be present in the airways without causing infection is Aspergillus fumigatus, though an intense allergic response to this fungus, allergic bronchopulmonary aspergillosis (ABPA), is seen in up to 15% of patients with CF. Clinical manifestations of ABPA include wheezing, pulmonary infiltrates, and central bronchiectasis.147 Non-tuberculous mycobacterium, such as Mycobacterium abscessus complex and Mycobacterium avium complex, is the most emerging threat to individuals with CF. It was previously regarded as a relatively benign environmental bacteria and now has been recognized as an opportunistic pathogen that can affect morbidity and mortality in CF.162 Although several of the virulent products of bacterial infection cause airway inflammation and progressive epithelial destruction and therefore contribute significantly to the severity of the pulmonary impairment in CF,111 it has also been reported that inflammation can precede infection, as was observed in bronchoalveolar lavage (BAL) studies in infants.96 Anti-

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inflammatory corticosteroids may slow progressive pulmonary deterioration but are associated with numerous side effects when used on a long-term basis and require careful consideration before use.111 They may be used in a small percentage of patients for specific indications such as fungal infection and ABPA.19 Influenza, rubella, and pertussis infections are particularly harmful to individuals with CF and can trigger a downward spiral of lung function. Early immunization is highly recommended, and a routine yearly influenza vaccine should be addressed in the regular clinic routine.19 The use of inhaled hypertonic saline has been suggested as an inexpensive treatment option to improve mucociliary clearance and pulmonary function in patients with CF. Hypertonic saline is associated with bronchospasm, so patients should be pretreated with bronchodilators. Recent studies suggest that hypertonic saline (7%) may increase the airway surface layer (ASL) to facilitate mucociliary clearance, thereby producing a short-term improvement in lung function in older children and adults.202 Most studies have included patients with moderate to severe lung disease. In children with CF under the age of 6, there was no difference in the rate of pulmonary exacerbations between inhaled hypertonic and isotonic saline, although it has been shown to be tolerated in this age group.63,170 Another mucolytic agent, recombinant human DNase (dornase alfa), thins mucus by cleaving the DNA released by dead neutrophils that are responsible for the tenacity of the mucus in the airways. Daily inhalation of aerosolized DNase can reverse early air trapping and ventilation inhomogeneity, decrease markers of inflammation in sputum, reduce pulmonary exacerbation risk, and improve or slow down the decline of pulmonary function.65 Malnutrition is a key feature of CF because defective CFTR in the pancreatic epithelium results in obstruction of the pancreatic duct. CF patients become pancreatic insufficient when more than 95% of total pancreatic exocrine function is lost. These patients develop nutrient malabsorption and are at risk for vitamin and mineral deficiencies.4 Nutrition and lung function are linked such that poor nutritional status and poor somatic growth affect the ability to repair lung disease. Similarly, pulmonary disease affects growth

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through appetite suppression and increased energy expenditure. Special attention to a properly balanced, high-calorie diet with supplementary pancreatic enzymes and vitamins requires acceptance and compliance in patients. During acute episodes of respiratory exacerbations, the anorexia that accompanies the frequent racking cough, the increase in mucus production, and the increased work of breathing pose a challenge to provision of adequate nutritional intake. Levels of resting energy expenditure have been shown to be in excess of 150% of normal in patients with CF with more progressive pulmonary disease or malnutrition.111 Oral nutritional supplements are available, but if patients fail to improve their weight, a gastrostomy feeding tube may be inserted for additional nutritional supplementation.4 Cystic fibrosis–related diabetes (CFRD) can develop in CF patients, with the average age of onset between 18 and 21 years. Annual screening for CFRD with an oral glucose tolerance test starts at age 10. Hyperglycemia during times of stress, such as pulmonary exacerbations or while on steroids, can occur.4 Female patients with CFRD have a poorer survival than male patients.147 Intermittent CFRD can be treated with insulin, with the goal of normalizing glucose levels. In patients with CF the airway lumen is compromised not only by secretions but also by airway edema, smooth muscle hypertrophy, and bronchoconstriction. Inhaled steroids, although never proven effective in CF in controlled clinical trials, may reduce airway edema. Bronchodilators such as β-adrenergic agonists or theophylline, intended to relax airway smooth muscle, are routinely administered, although not all patients respond to them in direct testing. Some patients may have paradoxical decreases in pulmonary function likely due to extensively damaged airways, which normally are held open by muscle tone.55 When used immediately before exercise or pulmonary physical therapy, bronchodilators may help prevent induced bronchospasm in some people and therefore are often prescribed as an important adjunct to physical therapy.111 Many medications employed in the treatment of CF require nebulization. As a result, the performance characteristics of the nebulizer must be considered when a method of delivery for

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inhaled medications is selected. Studies comparing the efficiency of different aerosol delivery systems found a significant difference among systems in terms of particle size, total delivery of fluid, and time taken to deliver the medication.38,107 Less drug wastage, reduced treatment time, and more specific matching of the delivery system to the breathing pattern of the individual are possible.38 Effective clearance of mucus-obstructed airways benefits the pulmonary system by allowing for improved ventilation and gas exchange and by limiting the tissue damage associated with recurrent infection. Today’s airway clearance techniques are based on the physiologic strategy of opening up the airways and getting air behind the secretions, mobilizing and collecting secretions from the peripheral airways, transporting them toward the central airways, and finally evacuating the secretions.102 Physical therapy techniques to promote airway clearance include postural drainage and percussion, positioning, expiratory vibrations, positive expiratory pressure (PEP) therapy, oscillating PEP therapy, highfrequency chest wall oscillations (HFCWO), directed breathing techniques such as the active cycle of breathing technique (ACBT), and autogenic drainage and are all combined with huffing and coughing. Exercise, thoracic mobility, and postural realignment exercises are often prescribed to maximize pulmonary fitness. More research is needed to scientifically support the efficacy of the use of pulmonary physical therapy modalities in CF. Most studies assess only short-term effects on airway clearance by measuring qualities of sputum (i.e., volume, weight, and viscosity) or rates of clearance of radiolabeled aerosol from the lung. Although some modalities yield short-term improvements in these markers, few measure long-term and clinically important end points like health-related quality of life or rates of exacerbation, hospitalization, and mortality. Cochrane reviews demonstrate the need for more adequate controls, randomized design and sampling, larger sample sizes, and use of valid outcome measures.119,131 The ethics of performing long-term randomized trials that withhold airway clearance from patients with CF is problematic because this treatment is considered to be the standard of care and has an established short-term benefit in increasing expectorated sputum volume and enhancing mucus clearance. In addition to airway

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clearance, exercise should be included in the management of CF. In a study at the Hospital for Sick Children in Toronto that evaluated the effects of a 3-year home exercise program, it was found that pulmonary function declined more slowly in the exercise group than in the control group, suggesting a benefit for patients with CF participating in regular aerobic exercise.175 Increased understanding of how CFTR dysfunction causes lung disease has resulted in new therapies that target the basic defect. CFTR replacement therapy involves the use of gene transfer therapy. This approach has been limited by the selection of an appropriate vector because of adverse side effects, transfection efficiency, and short-lived gene expression. Another treatment alternative is CFTR pharmacotherapy, which affects the trafficking, expression, or functioning of CFTR, depending on the class mutation. Most recently, a tremendous breakthrough in the diseasemodifying therapy ivacaftor (Kalydeco), an oral pharmacologic potentiator that restores the function of defective CFTR at the cell surface caused by the class III mutation G551D, demonstrated improvements in lung function, weight, quality of life, and sweat chloride levels and a reduction in the frequency of pulmonary exacerbations in randomized placebo-controlled trials. This drug is approved in Canada and the United States in children older than 2 years old with the specific CFTR mutation. Moreover, ivacaftor is currently being investigated in phase 3 trials as a combination therapy with lumacaftor in patients older than 12 years of age with two F508 CFTR mutations. This novel approach involves a two-step strategy: lumacaftor brings the defective CFTR to the cell surface, and ivacaftor supports the activity of the protein to restore salt and water balance for less viscous secretions.53 Inhaled osmotic agents are being developed because they are thought to increase the airway fluid layer (Fig. 26.1). These exciting therapies are being developed to treat the early and root causes of CF, which will improve outcomes and potentially reduce the burden of care.166 The unprecedented volume of current research and the emergence of new, successful therapies for CF dictate a need for conscientious practitioners to remain educated and receptive to adjusting their management plans and critical pathways for care of patients with CF.

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FIG. 26.1 A teenager is performing inhalation therapy

via a reusable breath-enhanced nebulizer with a mouthpiece.

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Lung Transplantation Organ transplantation is now a treatment option in many different terminal illnesses, including CF. Advances in surgical technique and postoperative care with improved immunosuppressive therapies have given some patients with CF a new lease on life. (See Chapter 28 for a more detailed discussion of the involvement of physical therapy in postsurgical care.) In North America, both heart-lung and double-lung transplants have been performed on patients with CF with end-stage pulmonary disease. The Toronto Lung Transplant Group performed the world’s first successful double-lung transplant in 1987.155 Cystic fibrosis has gradually become a leading indication for lung transplantation and accounts for 54% of pediatric lung recipients in North America and 73% in Europe14 while in adults, 17% of international lung recipients are due to CF.216 Survival rates in pediatric lung transplantation are similar to those reported in adults, with a median survival of 4.9 years versus 5.4 years, respectively, in recipients undergoing transplantation between January 1990 and June 2011.14 Living-donor lobar lung transplantation has been performed since 1993, but because it involves recruitment of two donors and the surgical procedure carries inherent risks to the donors, it is not without its problems. The impact of this technique on survival statistics appears comparable with that of other approaches, but long-term analysis is needed.184 Complications most often arise from infections or graft rejection in the early post-transplant period. In children, development of bronchiolitis obliterans syndrome is an indicator of chronic rejection and a leading cause of death after lung transplantation.14 The problem with malabsorption in patients with CF dictates difficulties with the therapeutic regimen for adequate immunosuppression after transplantation. Individual transplant centers should direct and monitor the immunosuppressive regimen because close monitoring of serum levels and adjustment of doses are vital to successful post-transplant management.212 Guidelines for listing a patient with CF for lung transplantation include FEV1 30% of predicted or rapidly declining lung function

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(increased frequency and duration of hospitalizations for pulmonary exacerbations, increasing antibiotic resistance of infectious bacteria, and increasing oxygen requirements, hypercapnia, and pulmonary hypertension). Patients also should have a history of compliance with medical treatment, an acceptable psychosocial profile, and functional vital organs.99,212 A referral for transplant (and acceptance onto the waiting list) must be made early enough to allow for a substantial wait for a suitable donor and creates a need for the development of a preoperative program of physical conditioning for these patients, which is a component of the lung transplantation program in many centers. These conditioning programs are designed to optimize the patient’s functional ability and exercise tolerance and to help maintain emotional well-being during the long wait for a transplant.45 Recently, a study found that pediatric lung transplant candidates that are ambulatory prior to transplant and able to walk greater than 229–305 m during a 6-MWT have better outcomes postoperatively.215 The inclusion of a home-based or hospitalattended semiindividualized exercise program following lung transplantation in children demonstrated improved health-related fitness.57 Physical therapists play a primary role in the development and implementation of both preoperative and postoperative exercise programs. Double-lung transplantation is now most often performed by bilateral anterolateral thoracotomies using bilateral submammary incisions, as first described in 1990.149 The lungs are transplanted as sequential single-lung grafts. The lung with the worst pulmonary function is replaced first, while oxygenation and ventilation are maintained by the native lung. Replacement of the second lung can then proceed with the newly implanted lung supporting the patient. Use of this technique has reduced to 30% to 35% the number of patients requiring anticoagulation and cardiopulmonary bypass during surgery. This surgical innovation has also reduced the degree of complications from perioperative bleeding, which can be a significant problem for patients with CF because of the presence of inflammatory adhesions within the pleural space.209 Single-lung transplants are not performed on patients with CF because the remaining native lung continues to be ventilated after

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transplantation, and its overexpansion will compress the transplanted lung.110 Contamination of the native lung could also spread infection to the transplanted lung.

Impairments in Pulmonary Function and Digestive Absorption Mucous plugging and bronchiolitis in the patient’s airways cause ventilation-perfusion abnormalities, and the subsequent hypoxemia worsens as severity of the obstruction increases.110 Further declines in arterial oxygenation can occur during sleep, so blood gases may have to be monitored throughout the night to assess the need for nocturnal supplementary oxygen.132 Increased oxygen demands during exercise can be a contributing factor to hypoxemia in individuals with CF. Although arterial blood gas measures are considered the “gold standard” in blood gas analysis,218 they are not commonly used in patients with CF because of their invasive nature. Other noninvasive techniques are preferred, such as pulse oximetry, which measures the level of oxygen saturation in the blood. This assessment tool can be used to evaluate the suitability of supplemental oxygen during exercise performance. Other changes in blood gas readings forewarn of serious advanced pathology. Hypercapnia in CF indicates advanced pulmonary disease and carries a poor prognosis. In a study of survival patterns of patients with CF who demonstrated hypercapnia, it was found that death usually occurred within 1 year of the development of chronic hypercapnia201 without interventions such as noninvasive ventilation or lung transplantation. Chest radiographs can provide detailed evidence of the progressive nature of pulmonary disease in CF (Fig. 26.2). In the initial stages of pulmonary involvement, the chest radiograph may reveal signs of hyperinflation and peribronchial thickening. As the disease progresses, bronchiectasis can become apparent, particularly in the upper lobes, and pulmonary infiltrates appear as nodular shadows on radiographs. With severe pulmonary disease the hyperexpanded lungs can precipitate flattening of the diaphragm, thoracic kyphosis, and bowing of the sternum—all detectable on radiography.110 Confirmation of the development of a

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pneumothorax can also be provided by examining the chest radiographs. When pulmonary disease is advanced, pulmonary artery hypertrophy may be noticed on radiography as a sign of the pulmonary hypertension associated with cor pulmonale.110 Cultures from sputum of a patient with CF identify the variety of bacteria that have infected the lower respiratory tract. Sensitivity studies can then be performed to identify effective antibiotic therapies.143 CF centers perform regular sputum bacteriologic tests to ensure adequate antibiotic coverage for their patients and to help monitor the state of bacterial infection.112 The physical examination provides valuable information on pulmonary function. Examination of the chest includes inspection, palpation, percussion, and auscultation. Inspection can reveal postural abnormalities (Fig. 26.3), modifications of breathing pattern (Fig. 26.4), or signs of respiratory distress. Evidence of a chronic productive cough is desirable. Examination of the comparative dimensions of the chest in the anterior-posterior and transverse planes is important because barrel chest deformity is common to obstructive lung diseases.86 Inspection of the fingers and toes may reveal bluish nail beds and clubbing of the digits, which reflect a change in the amount of soft tissue at the nail bed associated with lung disease. Palpation of the chest wall for excursion and for tactile fremitus may reveal atelectasis, pneumothorax, or large airway secretions. The resonance pattern of the chest is examined by percussion. Audible changes in the resonance pattern are an indication of abnormally dense areas of the lungs.86 Age of the patient may limit the reliability and clinical usefulness of components of the physical examination. In infants, measurement of chest wall expansion may be difficult and percussion may not be appropriate.44

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FIG. 26.2 Two chest radiographs of the same

individual showing marked deterioration over the course of 10 years. (A) At age 4, there is already evidence of bilateral perihilar peribronchial thickening and patchy infiltrates in the right middle lobe, suggestive of mucous plugging. (B) Diffuse bilateral bronchiectasis associated with cystic fibrosis with hyperinflation and bilateral areas of consolidation.

Auscultation of the chest contributes information on the quality of airflow and evidence of obstruction in different areas of the lungs. Reduced ventilation is suggested by decreased breath sounds or the presence of inspiratory crackles (also called rales). If crackles are heard throughout the ventilation cycle, this suggests impaired secretion clearance. Diffuse airway obstruction may cause polyphonic wheezing. The examiner must be aware that chronically hyperinflated lungs tend to mask or make it difficult to hear adventitious sounds on auscultation.86 Familiarization with a patient’s lung sounds is important because a change may signal a change in pulmonary function that might otherwise have gone undetected.

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FIG. 26.3 An example of postural changes in an

individual: elevation of the shoulders, protracted scapulae, and increased anterior-posterior diameter of the chest. Note the intercostal indrawing.

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FIG. 26.4 Use of accessory muscles of respiration,

tracheal tug, and supraclavicular indrawing is apparent on physical inspection. Note the gastrostomy tube and the port-a-catheter line.

Individuals with CF must make a concerted effort to consume adequate calories to meet the increased work of breathing and

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altered digestive absorption. Individuals with CF who are pancreatic insufficient require oral supplementary enzymes to absorb adequate nutrients from their diet. Pancreatic function is determined by a number of methods including fecal fat assessment, pancreatic substrate assays, and direct collection of pancreatic secretions by duodenal intubation.111 Individuals with CF whose pancreatic function is sufficient are able to maintain fat absorption and have less pulmonary dysfunction than individuals who have pancreatic insufficiency.42 Because pulmonary function is strongly associated with adequate nutrition and weight gain, the goal of treatment is prevention of the cascade of wasting precipitated by reduced lung function, increased energy expenditure, decreased intake due to poor appetite, and increased losses due to malabsorption. Other factors that are associated with a preferred prognosis include single-organ involvement at diagnosis, absent or singleorganism sputum colonization, and a normal chest radiograph 1 year after diagnosis. Multiple organ involvement, abnormal chest radiographs at diagnosis, colonization of multiple organisms in the sputum, a falloff from typical growth, and recurrent hemoptysis are all factors associated with a poor prognosis. There also appears to be a gender bias in severity of disease expression, with males having a better prognosis than females.112

Pulmonary Function Testing Pulmonary function tests (PFTs) are used to evaluate lung function and are administered by pulmonary function technicians. PFTs are indicated to determine the presence or absence of lung disease, to quantify the effects of a known lung disease on lung function, and to determine the beneficial or negative effects of various types of therapy. PFTs consist of a number of different tests, and the type of test ordered depends on the question to be answered. The most common question for patients with CF is, “What is the degree of obstruction?” This parameter is easily measured with spirometry, which measures forced vital capacity (FVC), FEV1, and airflow rates (forced expired flow between 25% and 75% of the vital capacity)

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during different phases of expiration, yielding an indication of the amount of bronchial obstruction present. The measure of FEV1 chronicles the early portion of expiration and is often reported as a ratio of FVC. In a healthy individual, FEV1/FVC is 0.70 to 0.80 indicating that 70% to 80% of the FVC is expired in the first seconds of a forced exhalation.78 A decrease in this ratio reflects an obstructed expiratory airflow. Early detection of abnormalities in lung function in CF is critical because these initial changes involve the small airways. Miller suggests that forced expiratory flow (FEF) 25%–75% is more sensitive than FEV1 or FEV1/FVC in detecting changes in small airway obstruction.127 Timed volumes at high lung volumes (e.g., FEV1) may remain within typical limits because the contribution of the small airways to overall resistance is low.91 FEV1 therefore is not a sensitive test in early lung disease but indicates obstruction of the central bronchi and becomes markedly abnormal as disease progresses.111 (A video demonstrating administration of pulmonary function testing is included on Expert Consult.) Another form of PFTs is plethysmography, in which the patient breathes through a mouthpiece to measure changes in air pressure within a sealed chamber (body box) while the volume of air remains constant. The volumes that can be measured include functional residual capacity (FRC), total lung capacity (TLC), and residual volume (RV), which can also be assessed by gas dilution methods.172 Both of these techniques can further evaluate severity of lung disease by determining the degree of gas trapping that occurs in an obstructive disease such as CF. The US National Institutes of Health’s comparative review of 307 cases of CF reported that PFT scores showed a common pattern: progressive decline in flow rates and vital capacity (VC) and an increase in the RV/TLC ratio, correlating with clinically gauged worsening of disease.58 As pulmonary disease becomes progressively more severe, deteriorating PFT scores can be used to help predict life expectancy. In one study, patients with poor arterial gases and an FEV1 of less than 30% of predicted value had 2-year mortality rates of greater than 50%.94 Individuals with CF demonstrate a characteristic decline in mid-expiratory flow rate

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(FEF25%–75%); noting the rate of this decline becomes an important prognostic indicator.77 Steadily worsening PFT scores correlate with declining clinical conditions and are used as an indicator in assessment for lung transplantation.95 FEV1 has been shown to be the strongest predictor of mortality in CF and has been the primary outcome measure in many clinical trials206; however, it may not be sensitive enough to detect changes in lung function because most patients with CF have normal FEV1 until adolescence. Although PFTs are informative and invaluable for early detection in advance of lung disease, these tests are not always easily performed. Patients must be cooperative, must be able to follow specific instructions, and must give maximum effort. Children younger than age 6 years usually cannot perform the standard test of forced expiration in 1 second in a reliable manner. Recent reports document that children between 3 and 6 years can successfully undergo spirometry139; however, there is a large learning curve and extra time may have to be scheduled into their clinic appointment. Another study examining children age 2 to 5 years found that modifying the FEV1 test to FEV0.75 gave a reliable measure of pulmonary function for young children.10 Various techniques are being developed to measure pulmonary function in infants, such as the raised-volume rapid thoracoabdominal compression (RVRTC) technique and fractional lung volumes. Revised techniques of rapid thoracic compression following increasing lung volumes near TLC and multiple breath washouts have also been investigated. Infant PFTs require sedation, special equipment, and trained personnel, which currently are available in only a few centers.206 In older children and adults, many other factors, such as sputum retention, poor nutrition, and fatigue, can influence the individual’s performance during spirometry. Notably, many children with CF show performance scores on repeat tests that have a significantly greater range of variability than scores of typical test subjects.41 The body plethysmography test can help to more accurately assess lung function by measuring the patient’s lung volumes (FRC, TLC, and RV). Some claustrophobia may be experienced by patients undergoing testing in the “body box,” and plethysmography may not be appropriate for all young children. The lung-clearance index (LCI) is a more sensitive test than

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spirometry at the early stages of disease because it correlates with structural changes on computed tomography imaging and has been shown to be predictive of later lung function abnormalities.186 The test consists of multiple-breath washout of a nonabsorbable gas (sulfur hexafluoride, nitrogen gas) to measure ventilation inhomogeneity caused by airways narrowing from inflammation or partial obstruction by mucus. The technique is easy to perform, requiring only tidal breathing; no additional coordination or forced maneuvers are needed, making it possible to use the technique in infancy and during preschool ages to generate repeatable and reproducible results. A small study demonstrated that abnormal LCI values could be present in younger children with CF who have apparently normal FEV1.196 One disadvantage is that the inhaled gas does not reach regions of the lung that are completely obstructed and therefore may underestimate disease severity.51 Recently, the measurement technique was standardized and was shown to provide good short- and medium-term repeatability as well as being responsive to interventions such as intravenous antibiotics, hypertonic saline, and DNase.192 TABLE 26.1 Selected Tests and Measures Used and/or Interpreted by Physical Therapists Test/Measure Exercise testing: cycle ergometer, stationary bike, treadmill Pulmonary function test (PFT): Spirometry, LCI Exercise field tests (6 MWT, 12 MWT, shuttle test, 3 MST) 15-Count breathlessness score RPE (rate of perceived exertion) using modified Borg scale Radiologic tests Pulse oximetry Heart rate Respiratory rate Sputum: quantity, color, viscosity, odor Manual muscle testing Postural screening and range of motion (ROM) Breathing patterns

Performed by Exercise physiologist PFT technician Physical therapist Physical therapist Technician Physical therapist Physical therapist Physical therapist Physical therapist Physical therapist Physical therapist Physical therapist

LCI, lung clearance index; MST, Minute Shuttle Test; MWT, Minute Walk Test.

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Foreground Information Physical Therapy Examination, Evaluation, and Intervention The role of the physical therapist in serving children and families is described during infancy, preschool and school age, adolescence, and transition to adulthood. Readers are encouraged to navigate the website of the Cystic Fibrosis Foundation (http://www.cff.org) to become familiar with the available resources. Selected tests and measures and interventions for children with CF are provided in Tables 26.1 and 26.2.

Infancy Newborn screening for CF is currently carried out in many countries around the world, including the United States and in most provinces of Canada. The current method of screening suggests that many but not all newborns with CF can be identified. Studies have suggested that through newborn screening, nutritional deficits are detected and that early intervention may be useful to protect against loss of lung function.19 A shorter prediagnostic period is associated with less negative feelings and increased confidence in the medical profession among parents of children with CF.126 A diagnosis of CF for their child can mean many things to parents. At the most basic level, it means they have a child with “special needs,” and those needs can be seen to influence the family dynamics.106 The child’s family members are forced to familiarize themselves with CF and with the psychological and practical demands inherent in this diagnosis. Addressing family information needs including what to expect for their child is critical. Intervention often must be implemented immediately upon diagnosis, and the family needs assistance in making the necessary adjustments and provisions to ensure adherence with the recommended therapeutic regimen. TABLE 26.2

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Summary of Physical Therapy Interventions for Children With Cystic Fibrosis Intervention Airway clearance techniques Postural exercises Mobility exercises Stretches Strengthening Aerobic training Inhalation therapies Energy conservation Efficient breathing pattern training Urinary incontinence training

Example Modified postural drainage and percussions, positive expiratory pressure, oscillating positive expiratory pressure, active cycle of breathing technique, autogenic drainage Chin and shoulder retraction Side trunk flexion, chest expansion Pectoral stretch over ball Core muscles, large muscle groups Swimming, running Compressor, nebulizer education on administering medications Positioning for shortness of breath, pacing, timing of activities Diaphragmatic pursed lip breathing

Core and pelvic floor muscle strengthening The Knack (contraction of the pelvic floor muscles before and during events that increase pressure on the pelvic floor)

Supporting Families Sensitivity and equanimity while interacting with families of infants diagnosed with CF are important for effective communication because this is a very stressful time for all involved. Active listening, asking for feedback after information is shared, and clarification are strategies used by physical therapists to minimize miscommunication; what the family or professional may “hear” can differ from what is actually said.26 Families seem to want information that acknowledges the seriousness of the disease while emphasizing the likelihood of a happy and fulfilling family life. Flexibility promotes better integration of the child’s treatment into the family’s routines. Parents may have many concerns and a host of questions and can be especially confused by all the uncertainty that typifies the disease. Because the progression of CF is so variable from case to case, ongoing examination of the child is the only way to ensure that treatments are individualized to meet child and family needs. This means that family members must have continued association with the CF center and appreciate their role

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as integral members of the caregiving team. Children with a chronic condition have been shown to have increased risk of psychosocial dysfunction with low self-esteem, poor school attendance, and family factors all playing a significant role in their ability to adjust.193 Because parental overprotection is strongly linked to the existence of psychosocial maladjustment in children,85 the parents of a child with CF must be alerted to the dangers of unnecessarily shielding their child from aspects of normal life. In infancy, this may take the form of overdressing the child to guard against drafts or neglecting to allow the child to participate in exploratory play. Physical therapists should reassure parents that infants with CF have the same interests and learn through social interactions, movement, and play similar to other infants. Parents are encouraged to position and play with their infant following developmental milestones to encourage chest mobility, leg strengthening, and endurance training. In a large study across nine countries, 17% of patients with CF reported depression, which was two times that reported in community populations; 37% of mothers and 31% of fathers reported clinically elevated depression, which were three times the rate in the community samples. The authors conclude that assessing and treating mental health issues in patients and families coping with a serious, chronic illness should be performed.161 The physical therapist can help to identify individuals with CF and their families who appear to be struggling and refer them to the psychologist or psychiatrist on the team so issues can be addressed early. Excellent reference materials are available in most CF centers. Teaching manuals designed to supplement the information imparted by the CF center staff are often distributed to families and can be made available to other interested caregivers such as child care workers or school teachers.

Management of Impairments in Pulmonary Function In the neonate the most common symptoms of CF are meconium ileus, malabsorption of nutrients, and failure to thrive, all of which are associated with involvement of the gastrointestinal tract.171 Overt pulmonary involvement is not apparent in the neonatal period because the lungs are morphologically normal at birth.80,110

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Within a few months, however, some infants with CF develop signs of impaired respiratory function, manifesting symptoms suggesting bronchiolitis. Pronounced wheeze, an indication of hyperactive airways, is sometimes apparent, and chest radiographs can reveal evidence of hyperinflation. Obstruction of airflow may be related to airway inflammation, mucosal edema, copious mucus secretion retention, and increased airway tone.189 The bronchioles are the main site of airflow obstruction in infancy. Studies using bronchoalveolar lavage revealed that every infant with CF, whether symptomatic or not, has small airway obstruction in the form of bronchial mucous casts.211 Pulmonary function cannot be measured in the conventional way (e.g., spirometry) in infants; therefore researchers have had to modify standard methods by using the raised-volume rapid thoracoabdominal compression technique (RVRTC). FEV0.5 was measured and was found to be significantly lower in infants with CF shortly after diagnosis (median age of 28 weeks) and 6 months later on retest.165 Infants with CF demonstrate decreased lung compliance and a less homogeneous distribution of ventilation when compared with typical control subjects.191 Tepper and colleagues found these changes in both symptomatic and asymptomatic infants.190 Abnormalities in flow-volume curves71 and low values of maximal expiratory flow83 indicate that limitations to airflow in infancy are associated with bronchoconstriction.80 Infants with CF have indeed displayed altered bronchial tone after the administration of a bronchodilator, as revealed by the fact that airflow rates showed significant increases not seen in a control group.83 Methacholine challenge testing also revealed heightened airway responsiveness.1 The PFTs used for infants in research are not feasible or practical in most clinics or CF centers. Examination of pulmonary involvement in infancy is usually limited to observation of chest and breathing patterns, history of respiratory symptoms, and chest radiographs. Carefully observing for signs of respiratory distress, such as nasal flaring, expiratory grunting, retractions of the chest wall, tachypnea, pallor, or cyanosis, produces an indication of respiratory status. Interpretation of auscultation of an infant or young child is more challenging because of easily transmitted sounds from close structures underlying the thin chest wall,44 but

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careful auscultation is necessary to ascertain if there is any evidence of wheezing. Changes visible on radiography are the most reliable indication of early pulmonary involvement because it has been demonstrated that airflow obstruction may precede the presence of overt respiratory symptoms. Historical accounts of respiratory illness must also be carefully considered. The rate of deterioration of pulmonary function in individuals with CF may be slowed by early initiation of treatment. Bronchoalveolar lavage findings in infants with CF show the presence of infection and inflammation within the airways as early as 4 weeks postpartum even before clinical manifestations, which can damage the respiratory epithelium resulting in an impairment of mucociliary transport and secretion retention. The airways of infants with CF have also been shown to be morphologically abnormal with greater diameter and thicker walls.108 The change in respiratory patterns and mechanics suggests that early therapeutic intervention might actually delay the onset of overt symptoms of respiratory impairment, but the value of initiating pulmonary treatment before development of symptoms remains controversial, although various theoretical arguments for initiating therapy as soon as possible can be presented. The time before onset of structural changes provides an opportunity for intervention and prevention of onset of progressive airway damage.23 Adherence may be improved if airway clearance therapy is incorporated into the child’s daily routine; prevention of respiratory impairment should be emphasized early in the treatment plan.211 Parents of infants with CF can also develop sensitive observational skills needed to detect changes in their infant’s status and to liaise with the team appropriately.102 A study was conducted to evaluate the combined effects of a bronchodilator and cardiopulmonary physical therapy on infants newly diagnosed with CF, addressing the controversy surrounding treatment for asymptomatic children.80 Baseline, preintervention measurements of the mechanics and energetics of breathing were obtained for all subjects. Twenty minutes after the inhalation of a bronchodilator, cardiopulmonary physical therapy was given to the subjects, consisting of 20 minutes of chest percussions and vibrations applied in five different postural drainage positions.

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Immediately after the physical therapy session, repeat pulmonary function measurements were taken. Most of the infants (10 of 13) demonstrated decreases from baseline values in pulmonary resistance, with subsequent decreases in the work of breathing, after administration of the bronchodilator and physical therapy.80 The investigators postulated that the bronchodilator relieved subclinical bronchospasm and aided the reduction of mucosal edema, and physical therapy assisted the mucociliary system by effectively mobilizing secretions and improving the patency of the airways.80 When serial PFTs are possible, objective measures of the progression of impairment and the effects of specific treatments may provide evidence of the effects of early intervention.80 Prevention of obstructive mucous plugging is the initial goal of pulmonary physical therapy. Historically, in infants with CF the primary modalities used in airway clearance were postural drainage, percussion, and vibration, which all use gravity-assisted positions to drain secretions while using a cupped hand to percuss. More recently, assisted autogenic drainage, baby PEP mask, and mobility exercises have been recognized as alternatives to airway clearance in infants.87

FIG. 26.5 Modified postural drainage and percussion

on an infant performed by a parent using a palm cup.

In obstructive airway diseases such as CF, the effectiveness of the

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antireflux mechanism at the esophagogastric junction is reduced.145 Increases in intraabdominal pressure associated with coughing also promote gastroesophageal reflux.176 The effectiveness of the antireflux barrier is further reduced in infants because of the anatomy of their chest. Their chests are more cylindrically shaped with a more cartilaginous rib cage, making the ribs more horizontally aligned while flattening the diaphragm and increasing the sternocostal angle.102 Of newly diagnosed infants with CF, 35% had symptomatic gastroesophageal reflux in one study,197 and 24hour esophageal monitoring revealed abnormalities in 10 successive infants newly diagnosed with CF in another.48 There are suggestions that reflux can worsen lung disease in CF and cause upper respiratory symptoms.214 A 5-year comparative study by Button and colleagues compared the standard 30° head-down tilt position versus the modified position (no tip) in 20 infants with CF who were asymptomatic.29 The investigators found that infants positioned in the modified position had significantly fewer days with upper respiratory tract symptom, shorter courses of antibiotics during the first year of life, better chest x-ray scores at 2.5 years of age, and better pulmonary function at 5 years compared with children who received postural drainage with their heads-down tilt. Therefore it is recommended that the modified postural drainage position be used for postural drainage. Timing physical therapy around feeding schedules may also be necessary to reduce the risk of gastroesophageal reflux. Postural drainage positions are easily achieved by placing the infant in the desired position on the caregiver’s lap. Holding the small child in this way also seems to offer the child an extra measure of security. Adapting hand position (by “tenting” the middle finger) or using a rubber palm cup suits the application of percussion on a tiny chest wall (Fig. 26.5). The applied force of percussion should vary with the size and condition of the infant, and conscientious monitoring of the infant’s response guides the amount of vigor used in percussion. Timing of manual vibrations to coincide with the expirations of an infant is difficult because of the infant’s rapid respiratory rate, and this technique may be very challenging to teach to parents. (A video demonstrating modified postural drainage and percussion is included on Expert Consult.)

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Use of a PEP mask has been compared with postural drainage in infants with CF. Constantini and colleagues studied 26 newborns with CF over 12 months using PEP and postural drainage as airway clearance techniques.39 The use of PEP was associated with less severe gastroesophageal reflux when compared with postural drainage. No significant difference in the effectiveness of airway clearance was noted; however, patients and parents preferred PEP. Assisted autogenic drainage is an alternative airway clearance technique for infants or individuals who are unable to cooperate.195 The goal of this technique is to prolong expiration toward residual volume and increase the expiratory flow, which can enhance mucus transport toward the larger airways. The placement of the therapist’s hands on the individual chest wall provides pressure and gradually restricts the inspiratory level.87 Ongoing communication, education, and instruction with the family are important. Periodically asking the parent or caregiver to demonstrate treatment positions and manual technique allows the therapist to reinforce proper technique and identify problems with proper application. Instructing parents to play breathing games with their infants and toddlers is a first step in learning to perform diaphragmatic breathing and huffing. Breathing exercises can promote use of collateral ventilation and can introduce concepts of techniques that will be used at older ages. In some CF centers, the physical therapist is also responsible for ordering, demonstrating, and arranging equipment necessary for the aerosol delivery of medications. Instruction on the care and use of these nebulizers is vitally important to ensure correct delivery of prescribed medications. Adherence to a therapeutic regimen requires commitment on the part of the caregiver. The demands of caring for a child with CF can seem extreme when considering the extra attention to nutritional issues, medications, and physical therapy. Signs of excessive stress or evidence that the family is having difficulty in coping with the caregiving requirements may become obvious. Referral to a social worker or a psychologist might help identify the family in crisis and aid the family in developing strategies to enable adjustment to the various challenges that lie ahead of them as they nurture their child with CF.

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Preschool and School Age More than 75% of children with CF are now diagnosed before their second birthday.151 When there is a positive family history of CF, parents are familiar with the disease, but in many cases, there is no prior knowledge of the disorder and the diagnosis can be startling. Initial shock may be followed by disbelief, anger, or grief.106 The age of the child when diagnosed affects parental reaction to some extent. The older the child, the greater the likelihood that the parents may experience extreme shock at the time of diagnosis.25 Sensitivity to the anguish experienced by the family must be shown. The clinical status of children with CF is highly variable. Some toddlers may have already experienced pulmonary complications and been hospitalized repeatedly, whereas others exhibit little or no detrimental impact on their respiratory function. The effects of protein-calorie deficits due to malabsorption may be manifest in stunted development such as small stature or a lower than average weight-to-height ratio; therefore a difference in appearance from their healthy siblings or friends may be perceptible.

Self-Efficacy and Participation Young children need to develop the ability to function socially outside the family circle. Demands of school and new friendships dictate a lessening of parental attachments and a capacity for some measure of independence.106 This type of autonomy may be difficult to achieve for the child with CF. If parents perceive that their child is fragile with exceptionally vulnerable health, they may become overprotective. Cappelli and colleagues found a strong correlation between parental overprotection and psychological maladjustment in the child.31 Encouraging children with CF to participate in a variety of social and physical activities could prove beneficial for their physical and emotional health. The physical therapist should stress the importance of incorporating an active lifestyle into the family dynamic. Assisting children to gain a sense of self-efficacy is an important goal. A key factor of lifelong adherence to necessary treatment is incorporating a sense of self-efficacy (the confidence that one has the ability to perform a behavior). Adherence is promoted through

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interaction with a credible role model, encouragement to perform tasks of self-management, and development of competency. Individual care plans are developed with each child, and a self-care manual is provided to the families to act as a guide. Initiating teaching when the child is young and regularly reinforcing education with both parents and children may counteract the negative correlation between adherence and aging.7 Better adherence to CF therapies is more likely in children whose parents strongly believe that the treatments are necessary.72 In a study evaluating the association between adherence to pulmonary medications and health care use, low adherence was a significant predicator of subsequent health care use and costs.160

Examination and Evaluation Examination and evaluation in the young child include history, physical examination, chest radiographs, blood gases, oximetry, and sputum bacteriology. The pulmonary function of younger children can be assessed by the lung clearance index (LCI) if the equipment is available and in children who are able to execute the necessary voluntary maneuver spirometry. Examination by the physical therapist should include thorough history taking, a physical examination including posture when applicable, and some type of exercise tolerance testing. A minority of young children with CF may have chronic cough, hypoxemia, and decreased compliance of the lungs,191 leading to restrictions in maximal oxygen consumption, an increase in the work of breathing, and an increase in resting energy expenditure.181 These factors all compromise exercise tolerance. Exercise testing is an objective method by which the physical therapist can quantify the patient’s disease severity and functional ability.163 Individuals with CF often will not be aware of the extent of their physical limitations owing to the slow progression of their disease.33 An exercise test can detect mild pulmonary dysfunction, which may go undetected during investigations at rest, and will also help reveal how individuals cope with work despite their disability. (A video demonstrating exercising testing is included on Expert Consult.) When an exercise test protocol is chosen, the purpose of the test

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and the age and disease severity of the subject should be carefully considered. Choosing the appropriate exercise test depends on the specific question being asked. For example, to assess activity limitations in aerobic performance, the exercise test should be progressive and should stress the subject’s cardiorespiratory system to a symptom-limited maximum. The test should also be reproducible and capable of providing meaningful results.81 Cycle ergometers are often used for testing exercise capacity in children with pulmonary disease.34,138 An accurate prediction of oxygen consumption can be obtained because the mechanical efficiency for pedaling a cycle is independent of body weight and therefore is almost identical for all individuals.33 Although the treadmill test generally yields higher oxygen consumption values, the cycle ergometer offers the advantages of being relatively inexpensive, portable, and safe. Because cycling is a familiar exercise for many people, it is less likely to cause apprehension. As with the treadmill test, cycle ergometry is reproducible. In addition, the subject is relatively stationary, and therefore vital signs are more easily monitored. Most ergometers have adjustable seat heights suitable for children, and it is important to be able to adjust handlebars and pedal crank length. Several progressive exercise protocols are used on the cycle ergometer to determine maximum oxygen consumption or individual peak work capacity (Fig. 26.6; see Chapter 6). Cerny and colleagues examined subjects with CF matched to a control group without CF to monitor cardiopulmonary response to incrementally increased workloads with cycle ergometry.34 Workloads were increased every 2 minutes until the subject could not continue. The study demonstrated that subjects with typical development needed an increased workload of 0.32 W/kg on average for an increase in heart rate of 10 beats per minute. Subjects with CF required workload increases ranging from 0.15 to 0.35 W/kg, depending on the severity of their disease, to demonstrate the same change in heart rate. Cerny and colleagues concluded that the limiting factor in exercise tolerance was severity of pulmonary involvement and not cardiovascular limitation.34 If the child is too small to successfully use a cycle ergometer, a treadmill can be used because only the ability to walk is required.

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The child should be monitored closely to maintain a sense of confidence during the test. Elevation and speed are adjusted according to the size and skill of the subject and should be selected to allow even the subject with severe dysfunction to exercise at two to three levels of difficulty.33 Two protocols frequently used for children with CF are the Godfrey protocol for cycle tests and the Bruce protocol for treadmill testing.163

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FIG. 26.6 Exercise testing with a young patient on

oxygen.

For individuals with severe lung disease, field walking tests such as 6- or 12-minute walks27 or the shuttle walking test177 may be preferred. The reliability and validity of the 6-minute walk test76 and the shuttle test179 with children with CF have been

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demonstrated, and normative values for children who are healthy have been published.163 Walking tests are simple, inexpensive, and can be performed by individuals of all ages and abilities with little risk of injury.156 Because they are highly reproducible, walking tests correspond closely to the demands of everyday activity. Another quick and portable test that may prove useful in a clinical setting is the 3-minute step test, which showed similar results as the 6-minute walk test when outcome measures were oxygen saturation, maximum pulse rate, and the Modified Borg Dyspnea Scale.11 Narang and colleagues, however, found that when the 3-minute step test was compared with the cycle ergometer, the 3-minute step test provided limited information related to exercise performance in a group with mild lung disease.135 They suggest that a more suitable test for this group must be given at a higher intensity and must equate better to typical levels of physical activity. Subjects performing an exercise test must be closely monitored and special attention must be given to signs of increased work of breathing that are disproportionate to what is expected.33 Subjective measures of the perceived level of respiratory labor with a dyspnea scale such as Borg’s Scale of Ratings of Perceived Exertion16 can be taken before, during, and after the exercise test. Borg’s scale is a good indicator of physiologic and psychological strain and allows individuals to interpret the intensity of their exercise according to subjective impressions.148 For more information on quantifying increased work of breathing, a 15-count breathlessness scale is an objective measure that can be used with the Borg scale or a visual analog scale.157 Maximal work capacity is limited by ventilation in individuals with pulmonary disease.33 Deficiencies in gas exchange and poor pulmonary mechanics compound the effects of decreased exercise capacity.34 The limitation to exercise caused by pulmonary restrictions is further evidenced by failure to reach predicted peak heart rates in exercise test subjects with CF, suggesting that exercise capacity is not limited by cardiovascular factors.30 A complete physical examination should assist in revealing the individual’s level of fitness, thus aiding the physical therapist in choosing the most appropriate exercise testing protocol. By assessing an individual’s response to exercise, physical limitations,

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exercise-related symptoms, and aerobic capacity can be measured. The results of an exercise test can be used to design an individualized exercise program to improve one’s exercise capacity and fitness level while encouraging individuals with CF to be physically active throughout their lives.

Management of Impairments in Respiratory Function Individuals with CF demonstrate wide variance in the severity of illness because the disease progresses in individuals at different rates, but some amount of chronic airflow obstruction is often already present in childhood. The small peripheral airways are the site of most of these early pulmonary changes, and patchy atelectasis and ventilation-perfusion abnormalities lead to increases in functional dead space and discernible hypoxemia.110 The goals of physical therapy for the young child encompass improvement of exercise tolerance with continued attention to secretion clearance techniques. Correction and maintenance of proper postural alignment are also stressed. Goals of intervention are determined with the child and his or her family and take into account the developmental stage of the child and the family’s priorities and concerns. The intervention plan must accommodate the child’s learning style and avoid prescriptive tasks that are beyond the child’s capabilities to promote self-efficacy and adherence. Collaboration with caregivers is essential when planning the home program. Children with a chronic illness should be encouraged to assume a degree of responsibility for their own treatment. Feeling some level of control over one’s own health fosters self-esteem and helps subdue anxiety.92 Although the practice of postural drainage and percussion has long been used in the treatment of CF, it has been criticized as being too time consuming and difficult to perform independently. Adherence to a daily physical therapy regimen is reported as lower than with all other aspects of treatment.150 Evidence of effectiveness might promote adherence, but research that has examined the effects of postural drainage and percussion is difficult to interpret because of the wide variety of outcome measures, including different PFTs, volume of secretions produced, and participants’ subjective impressions.185 It is also problematic to compare studies

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done on children at different stages of the disease and/or characteristics. Identifying the independent variable is sometimes troublesome because of the diverse combinations of techniques used; for example, percussion is rarely performed independently of postural drainage and coughing, making it difficult to determine the effect of each procedure. Recent reviews suggest the need for studies comparing treatment versus no treatment, but the ethical considerations of withholding treatment have prevented researchers from conducting this type of research.82 In a study by Lorin and Denning, the short-term effect of postural drainage and percussion physical therapy for patients with CF, compared with cough alone, was production of more sputum.109 Other studies support the effectiveness of postural drainage and percussion in increasing amounts of sputum expectorated by subjects when excess secretion production is already a feature of the patient’s condition.13,114 The amount of sputum produced may be quantified by volume or weight, but caution must be used when interpreting the findings from this type of measurement. Because many individuals may swallow a portion of their sputum, the output can underestimate the true volume produced. The amount of saliva that contaminates the product is difficult to determine, and this has resulted in measurement of the dry weight of sputum in some studies. Measurement of dry weight is not practical in most clinical settings. In addition, the amount of sputum produced does not indicate where it originated. Alternative methods for mobilizing secretions and stimulating cough have been suggested, usually involving directed breathing techniques. These include huffing, PEP, oscillating PEP (Flutter and Acapella), autogenic drainage, and active cycle of breathing (formerly known as forced expiratory technique, or FET). The rationale for use of huffing, a type of forced expiration with a similar mechanism to coughing, was suggested by a study that bronchoscopically demonstrated that maintenance of an open glottis throughout the maneuver stabilized the collapsible airway walls of subjects with chronic airflow obstruction.84 The glottis normally closes in the compression phase of a cough, translating high compressive pressures on the tracheobronchial tree that may cause bronchiolar collapse.185 Uncontrolled coughing is often

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nonproductive and exhausting. The concept of the equal pressure point (EPP) in which the intraluminal pressure and the extraluminal pressure are equal, helps to explain how huffing is effective in clearing secretions. During a huff, the intraluminal pressure decreases from the peripheral airways toward the mouth thereby manipulating the position of the EPP to control the degree of compression of the airway. To perform huffing, the subject is asked to take either a low-, mid-, or large-volume (depending on the location of the secretions) inspiration and then, without allowing the glottis to close, to render a strong contraction of the abdominal muscles to aid in forceful expiration. Maintaining an open glottis can be compared with vocalizing “ha” or “ho.”185 Huffing is an uncomplicated breathing technique that can be easily taught to young children, and performing huffs can introduce the child to the concept of controlled or directed breathing techniques. (A video demonstrating huffing is included on Expert Consult.) Forced expiratory technique (FET) employs forceful expirations combined with an open glottis as in huffing, interspersed with controlled breathing at mid to low lung volumes. A 3-year study conducted by Reisman et al. compared the treatment effects of FETs versus postural drainage and percussion physical therapy in subjects with mild to moderate pulmonary involvement and found that subjects who performed only FETs had significantly greater rates of decline in measures of FEV1, midexpiratory flow rates (FEF25%–75%), and lower Shwachmann CXR scores compared to subjects performing postural drainage and percussion.168 To clarify how to properly use FET, which always includes finer breathing control techniques and thoracic expansion exercises, Pryor and associates reclassified it as an active cycle of breathing techniques.158 The three components are combined in a set cycle: relaxation and breathing control and three to four thoracic expansion exercises repeated twice, then relaxation and breathing control followed by one or two forced expirations. The number of breaths within a cycle can be modified to suit the individual’s need. When secretions reach the larger, proximal airways, they may be cleared by a huff or a cough at high lung volume. Postural drainage positions may augment the effect, but the sitting position may be

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used if a gravity-assisted position is contraindicated.205 PEP (Fig. 26.7) as a means of secretion mobilization for individuals with CF has been proposed. Introduced for use in this population in the 1980s in Denmark, PEP has been shown to be as effective as traditional cardiopulmonary physical therapy both for chronic (baseline) stages of CF69,118,140 and during an acute exacerbation of pulmonary complications.119,141 This flow-regulated technique aims to temporarily increase functional residual capacity (FRC) to allow the tidal volume to be above the opening volume of obstructed alveoli.28 The transmural pressure generated by maintaining positive pressure throughout the expiration phase is thought to allow airflow to reach some obstructed alveoli through use of collateral airway channels. Airways are “splinted open” through the maintenance of PEP, thereby facilitating movement of peripheral secretions toward central airways.103 The PEP technique usually consists of diaphragmatic and pursed lipped breathing followed by 10–15 slightly larger than tidal volume breaths into the mouthpiece or mask after which huffing and coughing are performed. These steps are repeated 5–6 times, for a total of 15–20 minutes of airway clearance. (A video demonstrating a cycle of PEP therapy is included on Expert Consult.)

FIG. 26.7 An adolescent doing his routine PEP therapy

technique with the physiotherapist.

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A 1-year randomized study that compared postural drainage and percussion with PEP in children and adolescents showed an improvement in lung function in the PEP group, while the postural drainage and percussion group deteriorated.118 A 2-year study of66 subjects found that PEP therapy is a valid alternative to postural drainage and percussions.69 In another long-term study, pulmonary function scores improved in subjects using PEP versus postural drainage and percussions, which indicated that PEP was preferred by subjects, thereby increasing adherence.118 The physiologic basis for the efficacy of low PEP and high PEP was shown to improve gas mixing in individuals with CF, and these improvements are associated with increased lung function, sputum expectoration, and arterial blood oxyhemoglobin saturation.49 Contraindications for PEP include undrained pneumothorax and frank hemoptysis.28 Oscillating PEP is another effective alternative to other forms of airway clearance techniques.131 Oscillating PEP (Flutter device, Acapella, RC Cornet) was developed to generate a controlled oscillating positive pressure and interruptions to airflow during expiration through a handheld device (Fig. 26.8). The Flutter was developed in Europe in the late 1980s, and the device consists of a steel ball in a plastic cone with perforated cover and a plastic mouthpiece. The effect of this device is angle dependent and the position of the ball determines the frequency of vibrations (range: 6–26 Hz). The range of PEP generated with the Flutter is 18–35 cm H2O. The Acapella, developed in the United States in the 21st century, uses a counterweighted plug and magnet to create airflow oscillation.28 Compared to the Flutter, the Acapella is not angle dependent and has an adjustable dial to modify the amount of PEP and oscillations provided depending on the individual. Oscillating PEP has been shown to be as effective as other commonly practiced airway clearance techniques.131 A long-term comparative study in children found that using Flutter in isolation from other airway clearance techniques did not prove as effective as PEP in maintaining pulmonary function and that it was more costly because of the increased number of hospitalizations and antibiotic use.123 The Flutter technique has been altered since this study. Newbold and colleagues reported no significant difference between PEP and Flutter in terms of pulmonary function and health-related

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quality of life in adult patients using the now-recommended technique.136 One study comparing Acapella versus Flutter found that they had similar performance characteristics. Investigators suggested that Acapella may have some advantages over Flutter because it is not position dependent and can be used at very low expiratory flows.199 Main and colleagues compared the RC Cornet, a type of oscillatory PEP, to the use of PEP alone and showed that neither PEP nor Cornet was associated with significant changes in lung function over a 6- or 12-month period.113

FIG. 26.8 A child performing his daily airway clearance

using the Flutter device. (From Hockenberry MJ, Wilson D: Wong’s nursing care of infants and children. 10th ed. St. Louis: Mosby, 2015.)

BubblePEP is another form of oscillating PEP that can be used in young children. It can be made at home using a container of water with a height of 5–10 cm of water and 5-mm diameter tubing to create 10- to 20-cm H2O pressure. The bubbles created in the water

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by expiring through the tubing create oscillations into the airways. Food coloring or bubble solution can be added to make the activity fun for younger children. This apparatus is not a closed system and will cause only transient increases in FRC. Appropriate cleaning of devices or BubblePEP apparatuses should be performed routinely to prevent growth of microorganisms. Contraindications to oscillating PEP are frank hemoptysis and an undrained pneumothorax, and precautions should be taken in individuals with increased intracranial pressure, hemodynamic instability, recent facial or oral surgery, acute sinusitis, or middle ear pathology.28 High-frequency chest wall oscillation (HFCWO) consists of an inflatable fitted vest attached to a pump that generates highfrequency oscillations applied to the external chest wall. It is proposed that HFCWO enhances mucociliary transport in three ways: by altering the rheologic properties of mucus, by creating a coughlike expiratory flow bias that shears mucus from the airway walls and encourages its movement upward, and by enhancing ciliary beat frequency.79 Short-term studies have found that HFCWO and postural drainage and percussion are comparable for airway clearance,73,188,203 but caution must be used when comparing these studies because a number of manufacturers producing this device use different protocols.153 Recently, a 12-month long-term multicenter randomized controlled study of HFCWO versus PEP mask in 107 children and adults older than 6 years old with CF across Canada was conducted. The study found that the number of pulmonary exacerbations (PE) requiring antibiotics and the time to the first pulmonary exacerbation were significantly higher in the HFCWO group than the PEP group.120 The number of PEs and the time to PEs have been associated with greater lung function decline and higher morbidity and mortality and have been shown to be a more sensitive measure of improvement in studies.204 McIlwaine et al. report that the results of their study do not support the use of HFCWO as the primary means of airway clearance in patients with CF. Intrapulmonary percussive vibration (IPV) is a form of physiotherapy that is administered through the mouth to the airways to mobilize secretions centrally while increasing resting

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lung volumes. The goal of IPV is to integrate percussion and oscillatory vibration to mobilize retained secretions, high-density aerosol delivery to hydrate mucus, and PEP to recruit alveolar lung units.28 IPV has been compared with other airway clearance techniques in individuals with CF though more long-term studies are warranted.

Physical Activity Physical activity is an integral part of managing cystic fibrosis from a musculoskeletal point of view as well as cardiorespiratory perspective. Exercise is known to stimulate the respiratory system by changing breathing patterns, expiratory flows, and ventilation distribution while mobilizing secretions at the same time. A 30month study of the effects of discontinuing other airway clearance modalities in favor of participation in aerobic exercise activities demonstrated no significant declines in clinical status, radiographic results, or PFT outcomes.6 In an acute exacerbation, exercise proved as effective as postural drainage and percussion for the study subjects when pulmonary function was reviewed. The group assigned to “exercise” continued to receive one bronchial hygiene treatment session by a physical therapist daily, whereas the postural drainage and percussion physical therapy group received three of these sessions per day. Cerny concluded that hospitalized patients could substitute exercise for part of the standard inhospital care.32 It has also been shown that nasal epithelial sodium channels are inhibited during exercise in patients with CF, which may help to hydrate mucus and improve mucociliary clearance.194 Benefits of an exercise program extend beyond increases in peak oxygen consumption, increased maximal work capacity, improved mucus expectoration, and improved expiratory flow rates.144,217 Exercise also improves general fitness, self-esteem, and measures of quality of life. Exercise is socially acceptable and helps to normalize the patient’s life rather than adding a therapy that accentuates differences from peers. Fitness level also has implications as a prognostic indicator. An improved survival rate is found in individuals with CF who demonstrate higher levels of aerobic fitness. Although this may simply reflect less severe illness, the ability to maintain aerobic fitness appears to have value in

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improving longevity.138 In a habitual physical activity study of 187 (99 females) patients age 7 to 25 years, subjects were divided into high- and low-activity groups and were followed over a 6-year period. Those in the low activity group had a significantly steeper rate of decline in FEV1 compared with those in the high-activity group. The authors conclude that higher activity levels are clearly associated with a slower rate of decline of FEV1.208 Selvadurai and colleagues discovered that prepubescent activity levels were similar between genders in patients with CF and between patients with CF and controls.178 After puberty, girls with similar severity of CF were significantly less active than boys. In another habitual physical activity study, Nixon found that children with CF engage in less vigorous physical activities than their non-CF peers despite having good lung function. Therefore it was concluded that individuals with CF should be encouraged to engage in more vigorous activities to promote aerobic fitness that may ultimately have an impact on survival.137 Low activity levels are also related to low bone mineral density and vice versa. It is important to encourage children with CF to optimize nutrition and to participate in regular physical activity to maximize the potential to acquire bone mass in childhood.207 Prevention and treatment of CF-related bone disease must address the myriad of risk factors. These factors include decreased absorption of fat-soluble vitamins and poor nutritional status due to pancreatic insufficiency, altered sex hormone production, chronic lung infection with increased levels of bone active cytokines, physical inactivity, and glucocorticoid therapy. Chronic pulmonary inflammation leads to increased serum cytokine levels, which are thought to increase bone resorption and decrease bone formation. Decreased quantity and quality of bone mineral density can lead to pathologic fractures and kyphosis in late childhood. Kyphosis contributes to diminished stature, pain and debilitation, rib and vertebral fractures, and chest wall deformities that reduce lung function, inhibit effective cough, hinder airways clearance, and ultimately accelerate the course of CF. The prevalence of bone disease appears to increase with the severity of lung disease and malnutrition. Cross-sectional studies have reported a higher incidence of fractures in individuals with CF.8 Postural exercises

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aimed at preserving good mobility of the thorax, back, and shoulders are recommended to prevent thoracic kyphosis while maintaining the functionality of bodily structures and improving self-image and body awareness. It is helpful to teach individuals how to distinguish between acceptable shortness of breath and abnormal dyspnea and how to modify exercise intensity in response to symptoms.104 Young children with CF should be encouraged to use the treatments that best suit their requirements for adequate secretion clearance and prevention of deterioration of clinical status. Attitudes toward adherence with treatment can greatly influence the effectiveness of any therapeutic regimen, and the challenge for the physical therapist is to design an intervention strategy that is useful for both efficacy and practicality. Factors that should be considered in designing a therapy program include disease presentation and severity; patient’s age; motivation and ability to concentrate; physician, caregiver, and child goals; research evidence; training considerations; work required; need for assistance or equipment; and costs. Children who learn to adopt their physical therapy as an aspect of daily living, as opposed to a burden or punishment, are more likely to adhere with the intervention plan.

Adolescence Adolescence is a time of rapid transformation in many areas of development. Sexual maturation comes about as a result of major changes in circulating hormones occurring around the time of maturity of the skeletal system, typically when the child is about 11 or 12 years old. These hormonal secretions cause a “growth spurt” in the adolescent.74 “Delay of maturity” occurs when there has been slowed or prolonged skeletal maturation. This is often the cause of delayed puberty in adolescents with CF.58 Arrested sexual development, combined with a smaller than average physical build, can intensify feelings of isolation from healthy peers. Osteopenia (low bone mass) is a possible complication of CF that may be linked to nutritional factors, delayed puberty, reduced exercise or weightbearing activities, treatment with corticosteroids, and chronic infection.40 The prevention of osteoporosis and the risk of fracture

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in patients with signs of osteopenia must be considered when developing a therapy program. The need for increasing independence can conflict with the demands of daily medical care, making adherence with the routine seem arduous. Adolescents with CF who look and feel different from the perceived “norm” may rebel against continuation of time-consuming treatments that reinforce their sense of being dissimilar or abnormal.20

Management of Impairments in Respiratory Function Adherence with the routine of daily postural drainage and percussion sessions is poor in the adolescent population.150 One challenge with this population is to promote self-efficacy with alternative methods of treatment. The use of PEP, active cycle of breathing technique, or a program of regular exercise may help to promote independence and has already been discussed. Autogenic drainage (AD) is another treatment modality involving selfcontrolled breathing techniques. Autogenic drainage requires no equipment or special environment to execute and relies on the user’s ability to control both inspiratory and expiratory airflow to generate maximum airflow within the different generations of bronchi.36 Three separate phases of the technique are believed to “unstick” mucus in the peripheral airways, “collect” the mucus in the middle airways, and “evacuate” it from the central airways according to the volume level of controlled breaths.117 Mobilization of airway secretions by autogenic drainage does not rely on the gravity assistance needed for postural drainage and can be performed in a sitting position. Research on the effectiveness of AD is scarce.130 A study comparing AD with postural drainage and percussion physical therapy and PEP in patients with CF122 and a 2-year comparison trial of AD and postural drainage and percussion physical therapy found no significant differences between treatment groups when clinical status and PFT scores were used as outcome measures.50 Learning the technique of AD poses difficulties for both the adolescent and the instructor. The technique requires concentration and the ability to use proprioceptive and sensory cues to localize secretions in the various levels of bronchi. A hands-on approach is essential, with a minimum of environmental distractions. Frequent

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training sessions and reviews are necessary. This type of concentrated self-directed activity usually is not achievable by children younger than age 12. Maintenance of proper posture is important for individuals with CF to provide efficient breathing mechanics. Changes in the lengthtension relationships of the respiratory musculature may occur with increases in FRC creating a mechanical disadvantage that contributes to increased work of breathing and muscle fatigue.33 Several postural changes are found in adolescents with CF to varying degrees, associated with chronically hyperinflated lungs, including increased anterior-posterior diameter of the chest, shoulder elevation, and forward protraction and abdominal flexion. Thoracic kyphosis predisposes individuals to back pain with up to 94% of adults with CF reporting chronic back pain.105 The physical therapist examines posture and evaluates whether deviations are reversible or amenable to treatment. Exercises to promote improved posture include a strengthening program for the supporting muscles of the back and spine, stretching of shortened musculature, and increasing awareness of postural alignment. Weight-bearing exercises should be included to promote bone formation. An innovative way to keep adolescents active that can address the above issues is “ball therapy” (Fig. 26.9). Ball therapy can also be used to promote aerobic fitness, balance, coordination, and relaxation.183 Projecting a good appearance is usually very important to adolescents, and informing the teenager with CF of the benefits of a good postural maintenance and weight-bearing program may provide the incentive necessary to ensure adherence to recommendations for exercises. More recently, Schneidermann and colleagues found that despite natural progression of CF lung disease, increased habitual physical activity of 17 min/day is feasible and is associated with a slower rate of decline in FEV1 at 1.63% per year, which is lower than the documented average decline in lung function. This study highlights the opportunity to have a positive impact on lung function decline, by promoting a physically active lifestyle throughout childhood, to encourage the maintenance of activity and enhance the carryover into adulthood.174 A retrospective pilot study in the United Kingdom analyzed data for a 5-year period and compared 24 CF

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patients identified as partaking in an exercise group or no record of exercise. Despite no difference in FEV1 between the two groups, the exercise group required significantly shorter days of IV antibiotics, suggesting that more intensive treatment was required to maintain lung function in the group that did not exercise regularly.115 A secondary effect of strength training with weights may be an improvement in self-confidence in the adolescent because training has been shown to be beneficial in promoting weight gain.187 As pulmonary function declines, nutritional status is a consideration that requires a great deal of focus. Reduced anaerobic performance in individuals with CF is predominantly due to poor nutritional status.97 The dietitian can identify situations in which intervention is necessary and may be a valuable ally in reinforcing the message that exercise can promote weight gain when appropriately managed. A liaison with the dietitian can ensure coordination of dietary and physical therapy recommendations. Urinary incontinence is an underreported problem in individuals with CF due to embarrassment,129,146 although it occurs in 5% to 16% of males and in 30% to 68% of females. Girls with CF as young as 9– 11 years of age may experience urinary incontinence, which is exacerbated by the repeated physical strain of coughing, airway clearance, worsening lung disease, and various types of physical exercise.2 Addressing this issue should become part of routine management and should be followed up regularly. Strategies that focus on the contraction of the pelvic floor muscles (“the Knack”), strengthening and endurance training of the lower abdominal core muscles, and optimal positioning during airway clearance all help to decrease stress on the pelvic floor muscles.

Transition to Adulthood When CF was first described in 1938, fewer than half of the patients survived their first year,54 but CF is no longer a purely pediatric disease. The currently reported median age of survival is 41.1 years, although many patients live well into their fifth decade of life.198 Although many of the issues physical therapists are concerned with in the pediatric patient are similar for adults, some special differences should be considered. Standard programs of transition from a pediatric to an adult center should include all team members

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to ensure continuity of the patient’s care.64 Continuity of care enhances the effectiveness of care and minimizes uncertainty and distress for young individuals and their families. Transition from the pediatric to the adult CF team is an important milestone for patients and must be handled sensitively. Transfer is more easily achieved when the pediatric and adult clinics work closely together.101

FIG. 26.9 (A–B) Therapy ball stretches to promote

proper posture and thoracic mobility. (C) Using modern forms of technology, Nintendo Wii Fit System, for exercise.

The psychosocial issues in adulthood are distinct because the normal progression of psychological maturation brings new concerns with each developmental stage.54 Greater clinical awareness, early treatment, and more effective management of CF have all contributed to improvement in prognosis.154 Choices

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regarding education, employment (medical insurance), marriage, and family will have to be made. These choices are more complex than usual for the adult with CF, who not only has to consider present health status but also must attempt to predict and prepare for future health status. Consideration should be given to medical insurance coverage, flexible work hours, and sick time when choosing employment.213 Physically demanding occupations may not be appropriate for the adult with CF with pulmonary limitations; therefore careful consideration of the physical demands of any task must be undertaken. Jobs involving constant exposure to dust, chemical fumes, or smoke should be avoided.54,143 Adults with CF will face few restrictions on choice of employment; however, infection control issues should be well thought out when choosing a career in health care.213 Treatment complexity and high treatment burden are highest among adults and pose a challenge to patient selfmanagement and adherence.173 Physical therapists should help to accommodate the adult’s busy lifestyle and incorporate strategies for fitting treatment into work schedules. Methods that are more convenient and promote independence, such as the PEP mask, Flutter, or AD, may be more agreeable to the adult at work or school. Because many adults with CF witness death among their peers, deterioration of their own health may have heightened significance for them. The adult who as an adolescent chose to be nonadherent with a physical therapy regimen may decide to initiate one again. Generally, individuals with CF have a strong positive outlook and are able to fully enjoy many of the typical pleasures of adulthood despite having to contend with unusual difficulties.143 Patients’ attitudes and outlook on life can have a tremendous influence on the medical progression of CF and are considered in prognostic scores.54 In general, cardiac status is related to severity of pulmonary involvement: the more severe the pulmonary adaptation to hypoxemia, the worse the pulmonary hypertension and right-sided heart strain. With comparable degrees of pulmonary disease, adults, especially those with mild lung disease, have more severe echocardiographic abnormalities than children. This may reflect the

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accumulative effects of episodes of mild hypoxemia and nocturnal oxygen desaturation that occur in even minimally affected individuals.54

Management of Impairments in Pulmonary Function The progressive nature of CF may predispose many adults to have more symptoms and activity limitations than they had as children143; thus it is essential that the physical therapist works closely with the individual to adapt the intervention plan accordingly. Minor hemoptysis or blood streaking occurs in up to 60% of adults with CF58; in most cases, the cause is an increase in bronchial infection that has irritated a blood vessel.142,144 Bleeding within the lungs can worsen infection by providing a more hospitable environment for bacteria; thus routine airway clearance can be continued if increased hemoptysis does not occur. Webber and Pryor believe that physical therapy should be continued with blood streaking.205 Strategies that emphasize huffing and breathing control may be less likely to increase the amount of bleeding than the frequent uncontrolled coughing that may occur with completely stopping airway clearance. Massive hemoptysis, which is also strongly related to advancing age,54 is defined as rupture of a bronchial blood vessel into the airways, producing greater than 240 ml of blood in 24 hours or recurrent bleeding greater than 100 ml/d over several days. The average incidence of massive hemoptysis is 1 in 115 patients per year, and approximately 4.1% of all patients with CF will suffer this complication during their lifetime, with a median age of 23 years.66 This complication warrants hospitalization and possible blood transfusion.106 The CF Foundation Pulmonary Therapies Committee recommends that an individual’s usual airway clearance technique can be continued in the presence of scant hemoptysis but that with massive hemoptysis airway clearance therapies should be ceased until the active bleeding stops.67 Spontaneous pneumothorax occurs 1 in 167 patients with CF per year, and approximately 3.4% of all patients will suffer from this complication during their lifetime with a median onset age of 21 years.66 A common cause of pneumothorax is the spontaneous rupture of apical bullae, which develop as the result of increased air

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trapping and microabscess formation in the diseased lung.110 Cardiopulmonary physical therapy is contraindicated in the presence of an untreated, progressing, or tension pneumothorax; however, treatment can continue with a small, stable pneumothorax and with a pneumothorax that has resolved through treatment with a thoracotomy and insertion of a chest tube for vacuum drainage of air.56 Percussion must not be performed directly over the chest tube site owing to the danger of displacement, but percussion may be safely performed elsewhere on the thorax as tolerated. The PEP mask is a relative contraindication because theoretically it could make the pneumothorax worse as a result of repetitive increased pressure generated in the airways. In the event of a large or unstable pneumothorax, it is recommended that certain airway clearance therapies be stopped, including PEP, oscillating PEP, and IPV.67 In summary, if a particular technique appears to make the situation worse, it should be discontinued and other modalities using breathing techniques may be beneficial at this time.

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FIG. 26.10 (A–B) Positioning for energy conservation,

promoting relaxation and ease of breathing.

Episodes of hypertrophic pulmonary osteoarthropathy also increase in prevalence with advancing age.54 Digital clubbing can become more noticeable in people whose pulmonary disease is severe.143 Standard anti-inflammatory agents are used to treat the joint pain associated with hypertrophic pulmonary osteoarthropathy.152 Physical therapists have a role in helping to relieve pain while maintaining joint range of motion (ROM). A home treatment program consisting of stretching, muscle strengthening, and ROM exercises for the specific joints involved can be easily added to the individual’s existing exercise program. When pulmonary disease becomes so disabling that the individual is having difficulty performing activities of daily living, physical therapy goals should encompass these needs. The patient may have to be instructed on energy conservation techniques such as diaphragmatic pursed-lip breathing and assuming positions that

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relieve breathlessness. These positions should promote comfort and relaxation and should encourage mobility of the thorax and support of the spinal column. They should also include hip flexion to relax the abdominal musculature and aid in increasing intraabdominal pressure for coughing.56 Examples of energy conservation positions are shown in Fig. 26.10. Retraining of the respiratory pattern using pursed-lip breathing in conjunction with diaphragmatic excursion has shown temporary benefits in increased tidal volume, decreased respiratory rate, reduction in PaCO2 levels, and improved PaO2 levels, as well as subjective benefits reported by patients. It may be that pursed-lip breathing improves confidence and decreases anxiety by providing some temporary control over oxygenation.37 Oxygen needs with exercise may have to be assessed at this time. Continuation of an active lifestyle should be promoted for all individuals with CF to optimize physical condition and maintain an optimistic outlook. If the individual is considering lung transplantation as an option, physical therapists must involve the individual in a formalized exercise program. The Toronto Lung Transplant Program at the Toronto General Hospital has a wellestablished rehabilitation program. Exercise capacity is determined by using a 6-minute walk test and ear oximetry, or the Modified Bruce Protocol on the treadmill.45 The purpose of assessing a patient’s exercise capacity is to determine if the severity of disability warrants consideration for transplant. A 6-minute walk test result of less than 400 meters was found to be a significant indicator for a patient to be listed for transplantation.90 Individuals can also be monitored at regular intervals with these tests to gauge potential deterioration in their functional status. Once accepted into the lung transplantation program, most centers require attendance at a formal rehabilitation program75 featuring aerobics, muscle strengthening, stretching, and light calisthenics. Expected physical therapy outcomes for the adult with CF include optimizing functional ability, physical exercise tolerance, and emotional well-being. For individuals awaiting a lung transplant, improvement in overall function should enable them to handle the surgery and immediate postoperative period with less difficulty.45 Arnold and associates found that 13 patients with endstage CF showed improvement in their functional exercise capacity

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by participating in pulmonary rehabilitation while awaiting double-lung transplantation.9 Pulmonary rehabilitation entailed treadmill walking and lower extremity ergometry three to five times per week, initiated at the time of listing for double-lung transplant. Six-minute walks were performed biweekly to assess changes in functional exercise capacity and workload on the treadmill and bicycle ergometer was recorded. Six-minute walk distances and treadmill and bicycle workloads all increased significantly. Conclusions from this data confirm the possibility of improving functional exercise capacity in patients with end-stage CF awaiting double-lung transplantation, despite severe limitations in pulmonary function. Noninvasive ventilation, most commonly biphasic positive airway pressure (BiPAP), may benefit CF patients who are experiencing respiratory failure and awaiting lung transplantation. Although nocturnal oxygen therapy has not been shown to improve long-term prognosis, nighttime BiPAP reduces hypoxia, hypercarbia, and work of breathing and may enhance airway clearance and reduce pulmonary hypertension.200 Physical therapists have a role in serving individuals in the terminal stages of their disease. Intervention at this stage includes the provision of comfort measures and must be directed by the patient’s wishes. Treatment sessions may have to decrease in duration and be offered with increased frequency throughout the day. Adaptations to postural drainage positions may have to be adopted so treatment can be tolerated. As the work of coughing becomes too tiring or painful, other modalities such as splinting and huffing can be reviewed. Pain control measures and relaxation and anxiety-reducing techniques, such as massage, may be the primary need of the dying patient. Simply listening to the concerns of these patients can be therapeutic. The value of a compassionate ear should not be underestimated. Physical therapists treating patients who are terminally ill should be careful to incorporate the families’ needs, respecting the fact that this is an emotionally volatile time for all involved.

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Summary Physical therapists have an important role in promoting selfmanagement of respiratory function and physical activity of children and youth with CF beginning at a young age. Supporting families and children’s self-efficacy are important to promote wellbeing and quality of life. The multisystem involvement and chronicity of CF requires physical therapists to keep abreast of medical management and continually interact with a team of professionals to communicate and coordinate care. Collaboration with a multidisciplinary health care team is stimulating and fosters creative and fulfilling practice of physical therapy. New advances suggest exciting possibilities for the future care of people with CF. Physical therapists serving children and youth with CF are encouraged to continually adapt their interventions based on current knowledge and research.

Case Scenario on Expert Consult The case scenario related to this chapter follows a child with cystic fibrosis from diagnosis at 2 months of age to 16 years of age. Changes in his health condition and the role of the physical therapist at different ages are described.

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References 1. Ackerman V, Montgomery G, Eigen H, Tepper R. Assessment of airway responsiveness in infants with cystic fibrosis. Am Rev Resp Dis. 1991;144:344–346. 2. Agent P, Parrott H. Inhaled therapy in cystic fibrosis: agents, devices and regimens. Breathe. 2015;11(2):111–118. 3. Reference deleted in proofs. 4. Amin R, Ratjen F. Cystic fibrosis: a review of pulmonary and nutritional therapies. Adv Pediatr. 2008;55:99–121. 5. Andersen D.H. Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathologic study. Am J Dis Child. 1938;56:344–395. 6. Andreasson B, Jonson B, Kornfalt R, et al. Long-term effects of physical exercise on working capacity and pulmonary function in cystic fibrosis. Acta Paediatr Scand. 1987;76:70–75. 7. Arias Llorente R.P, Bousono Garcia C, Diaz Mattin J.J. Treatment compliance in children and adults with cystic fibrosis. J Cyst Fibros. 2008;7(5):359–367. 8. Aris R.M, Merkel P.A, Bachrach L.K, et al. Consensus statement: guide to bone health and disease in cystic fibrosis. J Clin Endocrinol Metabol. 2005;90:1888–1896. 9. Arnold C.D, Westerman J.H, Downs A.M, Egan T.M. Benefits of an aerobic exercise program in C.F. patients waiting for double lung transplant. Pediatr Pulmonol. 1991(Suppl 6):287. 10. Aurora P, Stocks J, Oliver C, et al. Quality control for spirometry in pre-school children with and without lung disease. Am J Resp Crit Care Med. 2004;169:1152–1159. 11. Balfour-Lynn I.M, Prasad S.A, Laverty A, et al. A step in the right direction: assessing exercise tolerance in cystic fibrosis. Pediatr Pulmonol. 1998;25:223–225. 12. Reference deleted in proofs. 13. Bateman J.R.M, Newton S.P, Daunt K.M, et al. Regional lung clearance of excessive bronchial secretions during chest physiotherapy in patients with stable chronic airway

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obstruction. Lancet. 1979;1:294–297. 14. Benden C, Edwards L.B, Kucheryavaya A.Y, et al. The Registry of the International Society for Heart and Lung Transplantation: sixteenth Official Pediatric Lung and Heart-Lung Transplantation Report-Focus Theme: age. J Heart Lung Transplant. 2013;32(10):989–997. 15. Reference deleted in proofs. 16. Borg G.A.V. Psychophysical bases of perceived exertion. Med Sci Sport Exerc. 1982;14:377–381. 17. Bosworth D.G, Nielson D.W. Effectiveness of home versus hospital care in the routine treatment of cystic fibrosis. Pediatr Pulmonol. 1997;24:42–47. 18. Reference deleted in proofs. 19. Boucher R.C, Knowles M.R, Yankaskas J.R. Cystic fibrosis. In: Murray J, Nadel J, eds. Textbook of respiratory medicine,. ed 3. Toronto: WB Saunders; 2000:1291–1323. . 20. Boyle I.R, di Sant’Agnese P.A, Sack S. Emotional adjustment of adolescents and young adults with cystic fibrosis. J Pediatr. 1976;88:318–326. 21. Brennan G, Brennan A.L, Geddes D.M. Bringing new treatments to the bedside in cystic fibrosis. Pediatr Pulmonol. 2004;37:87–98. 22. Brodlie M, Haq I.J, Roberts K, Elborn J.S. Targeted therapies to improve CFTR function in cystic fibrosis. Genome Med. 2015;7:101. 23. Brody A.S. Early morphological changes in the lungs of asymptomatic infants and young children with cystic fibrosis. J Pediatr. 2004;144:145–146. 24. Burns J.L. Treatment of cepacia: in search of the magic bullet. Pediatr Pulmonol. 1997;Suppl 14:90–91. 25. Burton L. The family life of sick children: a study of families coping with chronic childhood disease. London: Routledge Kegan Paul; 1975. 26. Bush A. Giving the bad news-your child has cystic fibrosis. Pediatr Pulmonol. 1997;Suppl 14:206–208. 27. Butland R.J.A, Pang J, Gross E.R, et al. Two, six and 12minute walking test in respiratory disease. Br Med J. 1982;284:1607–1608.

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28. Button B.M, Button B. Structure and function of the mucus clearance system of the lung. Cold Spring Harb Perspect Med. 2013;3(8):a009720. http://doi.org/10.1101/cshperspect.a009720 29. Button B.M, Heine R, Catto-Smith A, et al. Chest physiotherapy in infants with cystic fibrosis: to tip or not? A five-year study. Pediatr Pulmonol. 2003;35:208–213. 30. Canny G.J, Levison H. Exercise response and rehabilitation in cystic fibrosis. Sports Med. 1987;4:143–152. 31. Cappelli M, McGrath P.J, MacDonald N.E, et al. Parental care and overprotection of children with cystic fibrosis. Br J Med Psychol. 1989;62:281–289. 32. Cerny F.J. Relative effects of bronchial drainage and exercise for in-hospital care of patients with cystic fibrosis. Phys Ther. 1989;69:633–639. 33. Cerny F.J, Darbee J. Exercise testing and exercise conditioning for children with lung dysfunction. In: Irwin S, Tecklin J.S, eds. Cardiopulmonary physical. St. Louis: Mosby; 1990:461–475. 34. Cerny F.J, Pullano T.P, Cropp G.J.A. Cardiorespiratory adaptations to exercise in cystic fibrosis. Am Rev Resp Dis. 1982;126:217–220. 35. Chernick V, Boat T, Wilmott R, Bush A. Kendig’s disorders of the respiratory tract in children. ed 7. Philadelphia: Saunders; 2006:848–900. 36. Chevaillier J. Autogenic drainage. In: Lawson D, ed. Cystic fibrosis: horizons. New York: Wiley; 1984:235. 37. Ciesla N. Postural drainage, positioning and breathing exercises. In: Mackenzie C.F, ed. Chest physiotherapy in the intensive care unit. Baltimore: Williams Wilkins; 1989:93–133. 38. Coates A.L, MacNeish C.F, Lands L.C, et al. Comparison of the availability of tobramycin for inhalation from vented vs. unvented nebulizers. Chest. 1998;113:951–956. 39. Constantini D, Brivio A, et al. PEP-mask versus postural drainage in CF infants: a long-term comparative trial. Pediatr Pulmonol. 2001;Suppl 22:308 A400. 40. Conway S.P. Impact of lung inflammation on bone metabolism in adolescents with cystic fibrosis. Paediatr Respir Rev. 2001;2:324–331.

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41. Cooper P.J, Robertson C.F, Hudson I.L, Phelan P.D. Variability of pulmonary function tests in cystic fibrosis. Pediatr Pulmonol. 1990;8:16–22. 42. Corey M, Gaskin K, Durie P, et al. Improved prognosis in C.F. patients with normal fat absorption. J Pediatr Gastroenterol Nutrit. 1984;3(Suppl 1):99–105. 43. Corvol H, Blackman S.M.3, Boëlle P.Y, et al. Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nat Commun. 2015;6:8382. doi: 10.1038/ncomms9382. 44. Crane L. Physical therapy for the neonate with respiratory disease. In: Irwin S, Tecklin J.S, eds. Cardiopulmonary physical therapy. St. Louis: Mosby; 1990:389–416. 45. Craven J.L, Bright J, Dear C.L. Psychiatric, psychosocial, and rehabilitative aspects of lung transplantation. Clins Chest Med. 1990;11:247–257. 46. Cystic Fibrosis Canada, . The Canadian Cystic Fibrosis Registry: annual Report. Toronto: Cystic Fibrosis Canada; 2013 Available at: URL. http://www.cysticfibrosis.ca/wpcontent/uploads/2015/02/Canadian-CF-Registry-2013FINAL.pdf. 47. Reference deleted in proofs. 48. Dab I, Malfroot A. Gastroesophageal reflux: a primary defect in cystic fibrosis. Scand J Gastroenterol. 1988;Suppl 143:125– 131. 49. Darbee J.C, Ohtake P.J, Grant B.J, Cerny F.J. Physiologic evidence for the efficacy of positive expiratory pressure as an airway clearance technique in patients with cystic fibrosis. Phys Ther. 2004;84:524–537. 50. Davidson A.G.F, McIlwaine P.M, Wong L.T.K, Pirie G.E. Longterm comparative trial of conventional percussion and drainage physiotherapy versus autogenic drainage in cystic fibrosis. Pediatr Pulmonol. 1992(Suppl 8):298. 51. Davies J.C, Alton E. Monitoring respiratory disease severity in cystic fibrosis. Respir Care. 2009;54:606–617.

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52. Davies J.C, Bilton D. Bugs, biofilms, and resistance in cystic fibrosis. Respir Care. 2009;54:628–638. 53. Davies J.C, Ebdon A, Orchard C. Recent advances in the management of cystic fibrosis. Arch Dis Child. 2014;99:1033– 1036. 54. Davis P.B. Cystic fibrosis in adults. In: LloydStill J.D, ed. Textbook of cystic fibrosis. Stoneham, MA: Wright; 1983:351–370. 55. Davis P.B. Cystic fibrosis since 1938. Am J Resp Crit Care Med. 2006;73:475–482. 56. DeCesare J.A, Graybill C.A. Physical therapy for the child with respiratory dysfunction. In: Irwin S, Tecklin J.S, eds. Cardiopulmonary physical therapy. St. Louis: Mosby; 1990:417–460. 57. Deliva R, Hassall A, Manlhiot C, et al. Effects of an acute, outpatient physiotherapy exercise program following pediatric heart or lung transplantation. Pediatr Transplant. 2012;16(8):879–886. 58. di Sant’Agnese P.A, Davis P.B. Cystic fibrosis in adults: 75 cases and a review of 232 cases in the literature. Am J Med. 1979;66:121–132. 59. Doershuk C.F, Matthews L.W, Tucker A.S. A five-year clinical evaluation of a therapeutic program for patients with cystic fibrosis. J Pediatr. 1964;65:1112–1113. 60. Durie P.R, Gaskin K.J, Corey M, et al. Pancreatic function testing in cystic fibrosis. J Pediatr Gastroenterol Nutrit. 1984;3(Suppl 1):S89–S98. 61. Edenborough F.P. Women with cystic fibrosis and their potential for reproduction. Thorax. 2001;56:649–655. 62. Elborn J. How can we prevent multi-system complications of cystic fibrosis? Pediatr Pulmonol. 2007;28:303–311. 63. Emer P.R, Molloy K, Pohl K, McElvaney N.G. Hypertonic saline in treatment of pulmonary disease in cystic fibrosis. ScientificWorldJournal. 2012 doi: 10.1100/2012/465230 64. Farrell P.M, Rosenstein B.J, White T.B, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr. 2008;153:s4–s14.

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65. Flume P, Van Devanter D.R. State of progress in treating cystic fibrosis respiratory disease. Medicine. 2012;18:88. 66. Flume P. Pulmonary complications of cystic fibrosis. Respir Care. 2009;54(5):618–627. 67. Flume P, Mogayzel P.J, Robinson K.A, et al. Cystic fibrosis pulmonary guidelines. Am J Respir Crit Care Med. 2009;180(9):802–808. 68. Reference deleted in proofs. 69. Gaskin L, Shin J, Reisman J.J, et al. Long term trial of conventional postural drainage and percussion vs. positive expiratory pressure. Pediatr Pulmonol. 1998;Suppl 15:345a. 70. Gibson L.E, Cooke R.E. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23:545–549. 71. Godfrey S, Bar-Yishay E, Arad I, et al. Flow-volume curves in infants with lung disease. Pediatrics. 1983;72:517–522. 72. Goodfellow N.A, Hawwa A.F, Reid A.J, et al. Adherence to treatment in children and adolescents with CF: a crosssectional, multi-method study investigating the influence of beliefs about treatment and parental depressive symptoms. BMC Pulm Med. 2015;15:43. doi: 10.1186/s12890015-0038-7. 73. Grece C.A. Effectiveness of high frequency chest compression: a 3-year retrospective study. Pediatr Pulmonol. 2000(Suppl 20):302. 74. Green O.C. Endocrinological complications associated with cystic fibrosis. In: Lloyd-Still J.D, ed. Textbook of cystic fibrosis. Stoneham, MA: Wright; 1983:329–349. . 75. Grossman R.F. Lung transplantation. Med Clin North Am. 1988;24:4572–4579. 76. Gulmans V.A.M, van Veldhoven N.H.M.J, de Meer K, Helders P.J.M. The six-minute walking test in children with cystic fibrosis: reliability and validity. Pediatr Pulmonol. 1996;22:85–89. 77. Gurit D, Corey M, Francis P.J, et al. Perspectives in cystic fibrosis. Pediatr Clin North Am. 1979;26:603–615. 78. Hancox B, Whyte K. Pocket guide to lung function tests. ed

2096

2. New York: McGraw-Hill; 2006. 79. Hansen L.G, Warwick W.J, Hansen K.L. Mucus transport mechanisms in relation to the effect of high frequency chest compression (HFCC) on mucus clearance. Pediatr Pulmonol. 1994;17:113–118. 80. Hardy K.A, Wolfson M.R, Schidlow D.V, Shaffer T.H. Mechanics and energetics of breathing in newly diagnosed infants with cystic fibrosis: effect of combined bronchodilator and chest physical therapy. Pediatr Pulmonol. 1989;6:103–108. 81. Hebestreit H, Arets H, Aurora P, et al. Statement on exercise testing in cystic fibrosis. Respiration. 2015;90(4) doi: 10.1159/000439057. 82. Hess D.R. The evidence for secretion clearance techniques. Respir Care. 2001;46:1276–1293. 83. Hiatt P, Eigen H, Yu P, Tepper R.S. Bronchodilator response in infants and young children with cystic fibrosis. Am Rev Resp Dis. 1988;137:119–122. 84. Hietpas B, Roth R, Jensen W. Huff coughing and airway patency. Respir Care. 1979;24:710–713. 85. Holmbeck G.N, Johnson S.Z, Wills K.E, et al. Observed and perceived parental overprotection in relation to psychosocial adjustment in preadolescents with a physical disability: the mediational role of behavioral autonomy. J Consult Clin Psychol. 2002;70(1):96–110. 86. Humberstone N. Respiratory assessment and treatment. In: Irwin S, Tecklin J.S, eds. Cardiopulmonary physical therapy. St. Louis: Mosby; 1990:283–322. 87. International Physiotherapy Group for Cystic Fibrosis. Canada: International Physiotherapy Group; 2009 Available at: URL. http://www.cfww.org/docs/ipgcf/bluebook/bluebooklet2009websiteversion.pdf. 88. Reference deleted in proofs. 89. Johnson C, Butler S.M, Konstan M.W, et al. Factors influencing outcomes in cystic fibrosis. Chest. 2003;123:20– 27. 90. Kadikar A, Maurer J, Kesten S. The six-minute walk test: a

2097

guide to assessment for lung transplantation. J Heart Lung Transplant. 1997;16:313–319. 91. Kattan M. Pediatric pulmonary function testing. In: Miller A, ed. Pulmonary function tests: a guide for the student and house officer. Philadelphia: WB Saunders; 1987:199–212. 92. Kellerman J, Zeltzer L, Ellenberg L. Psychological effects of illness in adolescence: anxiety, self-esteem and perception of control. J Pediatr. 1980;97:126–131. 93. Kerem B.S, Rommens J.R, Buchanan J.A, et al. Identification of the cystic fibrosis gene: gene analysis. Science. 1989;245:1073–1080. 94. Kerem E, Reisman J, Corey M, et al. Prediction of mortality in patients with cystic fibrosis. N Eng J Med. 1992;326:1187– 1191. 95. Khaghani A, Madden B, Hodson M, Yacoub M. Heart-lung transplantation for cystic fibrosis. Pediatr Pulmonol. 1991;Suppl 6:128–129. 96. Khan T.Z, Wagener J.S, Bost T, et al. Early pulmonary inflammation in infants with cystic fibrosis. Am J Resp Crit Care Med. 1995;151:1075–1082. 97. Klijn P.H, Terherggen-Largo S.W, van der Ent C.K, et al. Anaerobic exercise in pediatric cystic fibrosis. Pediatr Pulmonol. 2003;36:223–229. 98. Reference deleted in proofs. 99. Kreider M, Kotloff R.M. Selection of candidates for lung transplantation. Proc of the Am Thoracic Soc. 2009;6:20–27. 100. Reference deleted in proofs. 101. Landau L.I. Cystic fibrosis: transition from paediatric to adult physician’s care. Thorax. 1995;50:1031–1032. 102. Lannefors L, Button B.M, McIlwaine M. Physiotherapy in infants and young children with cystic fibrosis: current practice and future developments. J R Soc Med. 2004;97(Suppl 44):8–25. 103. Lannefors L. Different ways of using positive expiratory pressure to loosen and mobilize secretions. Pediatr Pulmonol. 1992;Suppl 8:136–137. 104. Lannefors L, Dennersten U, Gursli S, Stanghelle J. In: Johan

2098

Sundberg C, ed. Chapter 22: Cystic Fibrosis in Physical Activity in the Prevention and Treatment of Disease. Sweden: Swedish National Institute of Public Health, Professional Associations for Physical Activity; 2010. http://www.fyss.se/wpcontent/uploads/2011/02/fyss_2010_english.pdf. 105. Lee A, Holdsworth M, Holland A, Button B. The immediate effect of musculoskeletal physiotherapy techniques and massage on pain and ease of breathing in adults with cystic fibrosis. J Cyst Fibros. 2009;8:79–81. 106. Lloyd-Still D.M, Lloyd-Still J.D. The patient, the family and the community. In: Lloyd-Still J.D, ed. Textbook of cystic fibrosis. Stoneham, MA: Wright; 1983:443–446. 107. Loffert D.T, Ikle D, Nelson H.S. A comparison of commercial jet nebulizers. Chest. 1994;106:1788–1792. 108. Long F.R, Williams R.S, Castile R.G. Structural airway abnormalities in infants and young children with cystic fibrosis. J Pediatr. 2004;144:154–161. 109. Lorin M.I, Denning C.R. Evaluation of postural drainage by measurement of sputum volume and consistency. Am J Phys Med Rehabil. 1971;50:215–219. 110. MacLusky I.B, Levison H. Cystic fibrosis. In: Chernick V.I, ed. Kendig’s disorders of the respiratory tract in children. vol. 5. Philadelphia: WB Saunders; 1990:692–730. 111. MacLusky I.B, Levison H. Cystic fibrosis. In: Chernick V.I, ed. Kendig’s disorders of the respiratory tract in children. vol. 6. Philadelphia: WB Saunders; 1998:838–882. 112. MacLusky I.B, Canny G.J, Levison H. Cystic fibrosis: an update. Paediatr Rev Commun. 1987;1:343–384. 113. Main E, Tannenbaum E, Stanojevic S, Scrase E, Prasad A. The effects of positive expiratory pressure (PEP) or oscillatory positive pressure (RC Cornet) on FEV1 and lung clearance index over a twelve month period in children with CF. Pediatr Pulmonol. 2006;Suppl 29:351. 114. Mazzacco M.C, Owens G.R, Kirilloff L.H, Rogers R.M. Chest

2099

percussion and postural drainage in patients with chronic bronchiectasis. Chest. 1985;88:360–363. 115. McAuley K, Green S, Major E, Daniels T. Does exercise participation affect FEV1 and the number of IV antibiotic days over 5 years in adults with CF? J Cystic Fibro. 2015;14(Suppl 1):S27. 116. Reference deleted in proofs. 117. McCool F.D, Rosen M.J. Nonpharmacologic airway clearance therapies: ACCP evidence-based clinical practice guidelines. Chest. 2006;129(Suppl 1):250S–259S. 118. McIlwaine, et al. Long-term comparative trial of conventional postural drainage and percussion versus positive expiratory pressure physiotherapy in the treatment of cystic fibrosis. J Paediatr. 1997;131(4):570–574. 119. McIlwaine M, Button B, Dwan K. Positive expiratory pressure physiotherapy for airway clearance in people with cystic fibrosis. Cochrane Database Syst Rev. 2015;17(6):CD003147. 120. McIlwaine M.P, Alarie N, Davidson G.F, et al. Long-term multicentre randomised controlled study of high frequency chest wall oscillation versus positive expiratory pressure mask in cystic fibrosis. Thorax. 2013;68(8):746– 751. doi: 10.1136/thoraxjnl-2012-202915. 121. Reference deleted in proofs. 122. McIlwaine P.M, Davidson A.G.F, Wong L.T.K. Comparison of positive expiratory pressure and autogenic drainage with conventional percussion and drainage therapy in the treatment of cystic fibrosis. Pediatr Pulmonol. 1988;4(Suppl 2):132a. 123. McIlwaine P.M, Wong L.T, Peacock D, Davidson A.G. Longterm comparative trial of positive expiratory pressure versus oscillating positive expiratory pressure (flutter) physiotherapy in the treatment of cystic fibrosis. J Pediatr. 2001;138:845–850. 124. McKone E.F, Velentgas P, Swenson A.J, Goss C.H. Association of sweat chloride concentration at time of diagnosis and

2100

CFTR genotype with mortality and cystic fibrosis phenotype. J Cystic Fibro. 2015;14(5) 580–58. 125. Mei-Zahav M, Durie P, Zielenski J, et al. The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants. Arch Dis Child. 2005;90:675–679. 126. Merelle M.E, Huisman J, Alderden-van der Vecht A, et al. Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis. Pediatrics. 2003;111(2):346–350. . 127. Miller A. Spirometry and maximum expiratory flowvolume curves. In: Miller A, ed. Pulmonary function tests: a guide for the student and house officer. Philadelphia: WB Saunders; 1987:15–32. 128. Moran A, Dunitz J, Nathan B, et al. Cystic fibrosis related diabetes: current trends in prevalence, incidence and mortality. Diabetes Care. 2009;32:1626–1631. 129. Moran F, Bradley J.M, Boyle L, Elborn J.S. Incontinence in adult females with cystic fibrosis: a Northern Ireland survey. Int J Clin Pract. 2003;57:182–183. 130. Morgan K, Osterling K, Gilbert R, Dechman G. Effects of autogenic drainage on sputum recovery and pulmonary function in people with cystic fibrosis: a systematic review. Physiother Can. 2015;67(4):319–326. 131. Morrison L, Agnew J. Oscillating devices for airway clearance in people with cystic fibrosis Cochrane Database Syst Rev CD006842. 2014 doi: 10.1002/14651858.CD006842.pub3. 132. Muller N, Frances P, Gurwitz D, et al. Mechanisms of hemoglobin desaturation during rapid-eye movement sleep in normal subjects and in patients with cystic fibrosis. Am Rev Resp Dis. 1980;119:338. 133. Munck A, Gerardin M, Alberti C, et al. Clinical outcome of cystic fibrosis present with or without meconium ileus: a matched cohort study. J Pediatr Surg. 2006;41:1556–1560. 134. Murray T.S, Egan M, Kazmierczak B.I. Pseudomonas aeruginosa chronic colonization in cystic fibrosis patients. Curr Opin Pediatr. 2007;19(1):83–88. 135. Narang I, Pike S, Rosenthal M, et al. Three-minute step test to assess exercise capacity in children with cystic fibrosis

2101

with mild lung disease. Pediatr Pulmonol. 2003;35:108–113. 136. Newbold E, Tullis E, Corey M, et al. The Flutter device versus the PEP mask in the treatment of adults with cystic fibrosis. Physiother Can. 2005;57:199–207. 137. Nixon P.A, Orenstein D.M, Kelsey S.F. Habitual physical activity in children and adolescents with cystic fibrosis. Med Sci Sport Exerc. 2001;33:30–35. 138. Nixon P.A, Orenstein D.M, Kelsey S.F, Doershuk C.F. The prognostic value of exercise testing in patients with cystic fibrosis. N Eng J Med. 1992;327:1785–1788. 139. Nystad W, Samuelsen S.O, Nafstad P, et al. Feasibility of measuring lung function in preschool children. Thorax. 2002;57:1021–1027. 140. Oberwaldner B, Evans J.C, Zach M.S. Forced expirations against a variable resistance: a new chest physiotherapy method in cystic fibrosis. Pediatr Pulmonol. 1986;2:358–367. 141. Oberwaldner B, Theissl B, Rucker A, Zach M.S. Chest physiotherapy in hospitalized patients with cystic fibrosis: a study of lung function effects and sputum production. Eur Respir J. 1991;4:152–158. 142. Orenstein D.M. Cystic fibrosis: a guide for patient and family. ed 2. Philadelphia: Lippincott-Raven; 1997. 143. Orenstein D.M. Cystic fibrosis: a guide for patient and family. ed 3. New York: Lippincott-Raven; 2003. 144. Orenstein D.M, Franklin B.A, Doershuk C.F, et al. Exercise conditioning and cardiopulmonary fitness in cystic fibrosis. Chest. 1981;80:292–298. 145. Orenstein S.R, Orenstein D.M. Gastroesophageal reflux and respiratory disease in children. J Pediatr. 1988;112:847–858. 146. Orr A, McVean R.J, Webb A.K, Dodd M.E. Questionnaire survey of urinary incontinence in women with cystic fibrosis. Br Med J. 2001;322:1521. 147. O’Sullivan B, Friedman S. Cystic fibrosis. Lancet. 2009;373:1891–1904. 148. Paley C.A. A way forward for determining optimal aerobic exercise intensity? Physiotherapy. 1997;83:620–624. 149. Pasque M.K, Cooper J.D, Kaiser L.R, et al. Improved technique for bilateral lung transplantation: rationale and

2102

initial clinical experience. Ann Thorac Surg. 1990;49:785–791. 150. Passero M.A, Remor B, Solomon J. Patient-reported compliance with cystic fibrosis therapy. Clin Pediatrics. 1981;20:264–268. 151. Pettit R.S, Fellner C. CFTR modulators for the treatment of cystic fibrosis. P T. 2014;39(7):500–511. 152. Phillips B.M, David T.J. Pathogenesis and management of arthropathy in cystic fibrosis. J R Soc Med. 1986;79(Suppl 12):44–49. 153. Phillips G.E, Pike S.E, Jaffe A, Bush A. Comparison of active cycle of breathing and high-frequency oscillation jacket in children with cystic fibrosis. Pediatr Pulmonol. 2004;37:71–75. 154. Pinkerton P, Trauer T, Duncan F, et al. Cystic fibrosis in adult life: a study of coping patterns. Lancet. 1985;2:761–763. 155. Pizer H.F. Organ transplants: a patient’s guide. Cambridge, MA: Harvard University Press; 1991. 156. Porcari J.P, Ebbeling C.B, Ward A, et al. Walking for exercise testing and training. Sports Med. 1989;8:189–200. 157. Prasad S.A, Randall S.D, Balfour-Lynn I.M. Fifteen-count breathlessness score: an objective measure for children. Pediatr Pulmonol. 2000;30:56–62. 158. Pryor J.A. The forced expiratory technique. In: Pryor J, ed. Respiratory care. London: Churchill Livingstone; 1991:79–100. 159. Reference deleted in proofs. 160. Quittner A.L, Zhang J, Marynchenko M, et al. Pulmonary medication adherence and health-care use in cystic fibrosis. Chest. 2014;146(1):142–151. doi: 10.1378/chest.131926. 161. Quittner A.L, Goldbeck L, Abbott J, et al. Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries. Thorax. 2014;69:1090–1097. 162. Qvist T, Pressler T, Høiby N, Katzenstein T.L. Shifting paradigms of nontuberculous mycobacteria in cystic fibrosis. Respir Res. 2014;15(1):41. 163. Radtke R, Stevens D, Benden C, Williams C. Clinical

2103

exercise testing in children and adolescents with cystic fibrosis. Pediatr Phys Ther. 2009;21(3):275–281. 164. Ramsey B.W, Pepe M.S, Quan J.M, et al. Intermittent administration of inhaled tobramycin in patients with cystic fibrosis. Cystic Fibrosis Inhaled Tobramycin Study Group. N Engl J Med. 1999;340:23–30. 165. Ranganathan S.C, Stocks J, Dezateux C, et al. The London Collaborative Cystic Fibrosis Group. The evolution of airway function in early childhood following clinical diagnosis of cystic fibrosis. Am J Resp Crit Care Med. 2004;169:928–933. 166. Ratjen F.A. Cystic fibrosis: pathogenesis and future treatment strategies. Respir Care. 2009;54:595–602. 167. Ratjen F, Munck A, Kho P. Short and long-term efficacy of inhaled tobramycin in early P. aeruginosa infection: the ELITE study. Pediatr Pulmonol. 2008;Suppl 31:319–320. 168. Reisman J.J, Rivington-Law B, Corey M, Marcotte J, et al. Role of conventional physiotherapy in cystic fibrosis. J Pediatr. 1988;113:632–636. 169. Riordan J.R, Rommens J.M, Kerem B.S, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–1073. 170. Rosenfeld M, Ratjen F, Brunback L, et al. Inhaled hypertonic saline in infants and children younger than 6 years with cystic fibrosis: the ISIS randomized controlled trial. JAMA. 2012;307(21):2269–2277. 171. Rosenstein B, Langbaum T. Diagnosis. In: Taussig L.M, ed. Cystic fibrosis. New York: Thieme-Stratton; 1984:85–115. 172. Ruppel G. Manual of pulmonary function testing. ed 7. St. Louis: Mosby; 1998. 173. Sawicki G.S, Ren C.L, Konstan M.W, et al. Treatment complexity in cystic fibrosis: trends over time and associations with site-specific outcomes. J Cystic Fibro. 2013;12(5):461–467. 174. Schneiderman J.E, Wilkes D.L, Atenafu E.G, et al. Longitudinal relationship between physical activity and lung health in patients with cystic fibrosis. Eur Respir

2104

J. 2014;43(3):817–823. 175. Schneiderman-Walker J, Pollock S, Corey M, et al. A randomized controlled trial of a 3-year home exercise program in cystic fibrosis. J Pediatr. 2000;136:304–310. 176. Scott R.B, O’Loughlin E.V, Gall D.G. Gastroesophageal reflux in patients with cystic fibrosis. J Pediatr. 1985;106:223– 227. 177. Scott S.M, Walters D.A, Singh S.J, et al. A progressive shuttle walking test of functional capacity in patients with chronic airflow limitation. Thorax. 1990;45:781a. 178. Selvadurai H.C, Blimkie J, Cooper P.J, et al. Gender differences in habitual activity in children with cystic fibrosis. Arch Dis Child. 2005;89:928–933. 179. Selvadurai H.C, Cooper P.J, Meyers N, et al. Validation of shuttle tests in children with cystic fibrosis. Pediatr Pulmonol. 2003;35:133–138. . 180. Sermet-Gaudelus I, Castanet M, RetschBogart G, Aris R. Update on cystic fibrosis-related bone disease: a special focus on children. Pediatr Respir Rev. 2009;10:134–142. 181. Shepherd R, Vasques-Velasquez L, Prentice A, et al. Increased energy expenditure in young children with cystic fibrosis. Lancet. 1988;2:1300–1303. 182. Sosnay P.R, Siklosi K.R, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013;45(10):1160–1167. 183. Spalding A, Kelly L, Santopietro J, Posner-Mayor J. Kid on the ball: Swiss balls in a complete fitness program. Windsor: Human Kinetics; 1999. 184. Starnes V.A, Bowdish M.E, Woo M.S, et al. A decade of living lobar lung transplantation: recipient outcomes. J Thorac Cardiovasc Surg. 2004;127:114–122. 185. Starr J.A. Manual techniques of chest physical therapy and airway clearance techniques. In: Zadai C.C, ed. Pulmonary management in physical therapy. New York: Churchill Livingstone; 1992:99–133. 186. Subbarao P.J, Stanojevic S, Brown M, et al. Clearance Index

2105

as an outcome measure for clinical trials in young children with cystic fibrosis. Am J Respir Crit Care Med. 2013;188:456– 460. 187. Swisher A.K, Hebestreit H, Mejia-Dopwns A, et al. Exercise and habitual physical activity for people with cystic fibrosis: expert consensus, evidence-based guide for advising patients. Cardiopul Phys Ther J. 2015;26(4):85–98. 188. Tecklin J.S, Clayton R.G, Scanlin T.F. High frequency chest wall oscillation vs. traditional chest physical therapy in CF: a large, 1-year, controlled study. Pediatr Pulmonol. 2000;Suppl 20:304. 189. Tepper R.S. Assessment of pulmonary function in infants with cystic fibrosis. Pediatr Pulmonol. 1992;Suppl 8:165–166. 190. Tepper R.S, Hiatt P.W, Eigen H, Smith J. Total respiratory compliance in asymptomatic infants with cystic fibrosis. Am Rev Resp Dis. 1987;135:1075–1079. 191. Tepper R.S, Hiatt P, Eigen H, et al. Infants with cystic fibrosis: pulmonary function at diagnosis. Pediatr Pulmonol. 1988;5:15–18. 192. Tiddens H, Puderbach M, Venegas J, et al. Novel outcome measures for clinical trials in cystic fibrosis. Pediatr Pulmonol. 2015;50(3):302–315. 193. Turkel S, Pao M. Late consequences of pediatric chronic illness. Psychiatr Clin North Am. 2007;30(4):819–835. 194. van de Weert van Leeuwan, Arets H, van der Ent C.K, Beekman J.M. Infection, inflammation and exercise in cystic fibrosis. Respir Rese. 2013;14:32. 195. Van Ginderdeuren F, Malfroot A, Dab I. Influence of ‘assisted autogenic drainage (AAD),’ ‘bouncing’ and ‘AAD combined with bouncing’ on gastro-oesophageal reflux (GOR) in infants. J Cyst Fibros Book of abstracts. 2001:112. 196. Vermeulen F, Proesmans M, De Boeck K. Longitudinal changes in lung clearance index in children with CF. J Cystic Fibr. 2015;14(Supp):S48. 197. Vinocur C.D, Marmon L, Schidlow D.V, Weintraub W.H. Gastroesopha reflux in the infant with cystic fibrosis. Am J Surg. 1985;149:182–186.

2106

198. Volsko T.A. Cystic fibrosis and the respiratory therapist: a 50-year perspective. Respir Care. 2009;54:587–593. 199. Volsko T.A, DiFiore J.M, Chatburn R.L. Performance comparison of two oscillating positive expiratory pressure devices: Acapella versus Flutter. Respir Care. 2003;48:124– 130. 200. Wagener J.S, Headley A.A. Cystic fibrosis: current trends in respiratory care. Respir Care. 2003;48:234–244. 201. Wagener J.S, Taussig L.M, Burrows B, et al. Comparison of lung function survival patterns between cystic fibrosis and emphysema or chronic bronchitis patients. In: Sturgess J.M, ed. Perspectives in cystic fibrosis. Mississauga, Canada: Imperial Press; 1980:236–245. 202. Wark P, McDonald V.M. Nebulized hypertonic saline for cystic fibrosis. Cochrane Database Syst Rev. 2009;2:CD001506. 203. Warwick W.J, Hansen L.G. The long term effect of high frequency chest compression therapy on pulmonary complications of cystic fibrosis. Pediatr Pulmonol. 1991;11:265–271. 204. Waters V, Stanojevic S, Atenafu E.G, et al. Effect of pulmonary exacerbations on long term function decline in cystic fibrosis. Eur Respir J. 2012;40(1):61–66. 205. Webber B.A, Pryor J.A. Physiotherapy for respiratory and cardiac problems. ed 2. New York: Churchill Livingstone; 1998. 206. Weiser G, Kerem E. Early intervention in CF: how to monitor the effect. Pediatr Pulmonol. 2007;42:1002–1007. 207. Wilkes D.L, Schneiderman-Walker J, Atenafu E, et al. Bone mineral density and habitual physical activity in cystic fibrosis. Pediatr Pulmonol. 2008(Suppl 31):436. 208. Wilkes D.L, Schneiderman-Walker J, Corey M, et al. Longterm effect of habitual physical activity on lung function in patients with cystic fibrosis. Pediatr Pulmonol. 2007;Suppl 30:358. 209. Winton T. Double lung transplantation for cystic fibrosis: operative technique and early post-operative care. Pediatr Pulmonol. 1992;Suppl 8:208–209. 210. Witt D.R, Blumberg B, Schaefer C, et al. Cystic fibrosis

2107

carrier screening in a prenatal population. Pediatr Pulmonol. 1992;Suppl 8:235. 211. Wood R.E. Why commence conventional chest physiotherapy for CF at diagnosis? Pediatr Pulmonol. 1993;Suppl 9:89–90. 212. Yankaskas J.R, Mallory, GB, and the Consensus Committee, . Lung transplantation in cystic fibrosis: consensus conference statement. Chest. 1998;113(1):217–226 1998. 213. Yankaskas J.R, Marshall B.C, Sufian B, et al. Cystic fibrosis adult care: consensus conference report. Chest. 2004;125:1S– 39S. 214. Yellon R.F. The spectrum of reflux-associated otolaryngologic problems in infants and children. Am J Med. 1997;103:125–129. 215. Yimlamai D, Freiberger D.A, Gould A, et al. Pretransplant six-minute walk test predicts peri- and post-operative outcomes after pediatric lung transplantation. Pediatr Transplant. 2013;17(1):34–40. 216. Yusen R.D, Christie J.D, Edwards L.B, et al. The Registry of the International Society for Heart and Lung Transplantation: thirtieth Adult Lung and Heart-Lung Transplant Report-2013; Focus theme: age. J Heart Lung Transplant. 2013;32(10). 217. Zach M.S, Purrer B, Oberwaldner B. Effect of swimming on forced expiration and sputum clearance in cystic fibrosis. Lancet. 1981;2:1201–1203. 218. Zadai C.C. Comprehensive physical therapy evaluation: identifying potential pulmonary limitations. In: Zadai C.C, ed. Pulmonary management in physical therapy. New York: Churchill Livingstone; 1992:55– 78.

Suggested Readings Bush A, Bilton D, Hodson M. Physiotherapy. In: Bush A, Bilton D, Hodson M, eds. and Geddes’ cystic fibrosis. ed 4. London: CRC Press; 2015. Button B.M, Button B. Structure and function of the mucus clearance system of the lung. Cold Spring Harb Perspect

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Med. 2013;3(8):a009720. http://doi.org/10.1101/cshperspect.a009720. Cystic Fibrosis Foundation Available at: URL. https://www.cff.org/. International Physiotherapy Group for Cystic Fibrosis. Canada: International Physiotherapy Group. 2009 Available at: URL. http://www.cfww.org/docs/ipgcf/bluebook/bluebooklet2009websiteversion.pdf. Lannefors L, Button B.M, McIlwaine M. Physiotherapy in infants and young children with cystic fibrosis: current practice and future developments. J R Soc Med. 2004;97(Suppl 44):8–25. Ratjen F.A. Cystic fibrosis: pathogenesis and future treatment strategies. Respir Care. 2009;54:595–602. Schneiderman J.E, Wilkes D.L, Atenafu E.G, et al. Longitudinal relationship between physical activity and lung health in patients with cystic fibrosis. Eur Respir J. 2014;43(3):817–823. Swisher A.K, Hebestreit H, Mejia-Downs A, et al. Exercise and habitual physical activity for people with cystic fibrosis: expert consensus, evidence-based guide for advising patients. Cardiopul Phys Ther J. 2015;26(4):85–98. Tiddens H, Puderbach M, Venegas J, et al. Novel outcome measures for clinical trials in cystic fibrosis. Pediatr Pulmonol. 2015;50(3):302–315. Volsko T.A. Cystic fibrosis and the respiratory therapist: a 50-year perspective. Respir Care. 2009;54:587–593.

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Asthma Multisystem Implications Mary Massery

Asthma is a common childhood health condition that can result in activity limitations and participation restrictions that impact quality of life. Asthma is characterized by airway inflammation, airway obstruction, and bronchial hyperresponsiveness to stimuli. The pathophysiology is complex with multiple system interactions making each child’s presentation of asthma unique. The purpose of this chapter is to: (1) describe pathophysiology from infancy to adulthood, (2) discuss the primary and secondary impairments of asthma and their impact on children’s long-term health and development, and (3) present medical and physical therapy management. The physical therapist needs to be knowledgeable of pathophysiology, primary and secondary impairments, and pharmacologic management to understand how asthma affects a child’s ability to participate in physical activities and what role the therapist can play in optimizing the child’s health, motor development, and physical activity. An extensive longitudinal case scenario on Expert Consult illustrates physical therapy management.

Background Information 2110

Prevalence According to the Centers for Disease Control (CDC), nearly one in 10 children in the United States has a diagnosis of asthma.2,11 The percentage nearly doubles among children born preterm.5 A full listing of national asthma facts and figures can be found on the CDC website (http://www.cdc.gov/asthma/faqs.htm).

Pathophysiology According to the National Institutes of Health (NIH), asthma is defined as a pulmonary disease with recurring symptoms that are variable in presentation and show three significant characteristics: (1) airway inflammation, (2) airway obstruction that is often reversible either spontaneously or with pharmacologic intervention, and (3) bronchial hyperresponsiveness to stimuli.40 Asthma is a disease of both the large and the small airways with recurrent episodes of shortness of breath, wheezing, chest tightness, and coughing.40 Extrinsic or allergic (atopic) stimuli include but are not limited to pollen, mold, animal dander, cigarette smoke, foods, drugs, dust, and other environmental factors. Intrinsic or nonallergenic stimuli include but are not limited to viral infections, inhalation of irritating substances, exercise, and emotional stress (Fig. 27.1). An individual may be sensitive to either type of stimuli or to both types. The hyperresponsiveness to stimuli in turn causes an inflammatory response. Inflammation has been identified as a central component of asthma and is likely the primary contributor to airway remodeling leading to chronic inflammation.40 This structural change may make the airways less responsive over time to medications. Genetics plays a role but does not account for all types and severities of asthma. The physical, environmental, neurogenic, chemical, and pharmacologic factors that are associated with asthma vary among individuals. They stimulate or trigger the immune system (i.e., mast cells, eosinophils, neutrophils, T lymphocytes, macrophages, epithelial cells) to release chemical mediators, which in turn cause constriction of the bronchial muscles, increased mucus production, and swelling of the mucous

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membranes. The most recent NIH guidelines, developed by a panel of asthma experts, point to two major environmental factors that significantly increase the risk of developing asthma: airborne allergens and respiratory viral infections (especially respiratory syncytial virus [RSV]).40 Recent findings confirm and explain the increased risk of developing asthma when exposed to RSV in infancy.6 Other environmental factors such as secondhand smoke increase the risk of asthma and influence the severity of the disease. For example, 6- to 11-year-old children with asthma who were exposed regularly to secondhand smoke showed greater adverse health and participation outcomes than their asthma peers not exposed to smoke.1

Primary Impairment Diagnosis The diagnosis of asthma is made on the basis of history, physical examination, auscultation and palpation, and pulmonary function tests (PFTs), especially in response to a methacholine challenge.4 Wheezing and rhonchi may be detected by auscultation even when the child does not show difficulty breathing. Breathing is often reported as being worse at night or early in the morning. Hyperexpansion of the thorax, increased accessory muscle breathing, postural changes, increased nasal secretions, mucosal swelling, nasal polyps, “allergic shiners” (darkened areas under the eyes), and evidence of an allergic skin condition may be noted on physical examination. During an acute asthma attack, the child may show an increased respiratory rate, expiratory grunting, intercostal muscle retractions and nasal flaring, an alteration in the inspiration-expiration ratio, and coughing. In severe cases, a bluish color of the lips and nails may be noted (oxygen desaturation). Other conditions mimic asthmatic symptoms, such as vocal cord dysfunction, airway hyperreactivity, other small airway diseases, dysfunctional breathing, nonobstructive dyspnea, and hyperventilation condition. These “copy-cat” conditions should be ruled out during a differential diagnosis process to avoid making the wrong

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diagnosis.3,27,33

FIG. 27.1 Causes and triggers of asthma.

(From Kumar P,

Clarke ML: Kumar and Clark’s clinical medicine. 8th ed. Edinburgh: Saunders, 2012.)

Classification and Guidelines for Treatment A classification system and guidelines for stepwise treatment of asthma were developed by an expert panel to streamline

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communication among medical professionals and researchers and were published by the NIH in 2007.40 The classification system lists childhood asthma by age (0–4 years old, 5–11 years old, 12 years old and older) and by clinical symptoms. The disease is classified as (1) intermittent, or persistent; (2) mild persistent; (3) moderate persistent; or (4) severe persistent. The summary of the report and recommendations for each age range can be found online at: http://www.nhlbi.nih.gov/health-pro/guidelines/current/asthmaguidelines/summary-report-2007. The severity classification table for children 12 years old and older is presented as an example of this classification system (Table 27.1). The classification system facilitates more consistent communication between practitioners and researchers. Desired goals of classification include improved treatment choices and more accurate documentation of patient outcomes by disease severity. Taken together, it is hoped that a national classification and treatment guideline will lead to better management of this chronic condition. New panels of experts are organized to report and compile the latest findings in the management of asthma approximately every 10 years.32

Pulmonary Function Tests (PFTs) PFTs are a group of tests that measure lung function. Test values are compared with predicted values based on age, sex, and height.12 PFTs are performed for patients with asthma to determine the location and degree of the respiratory impairment as well as the reversibility of bronchoconstriction following administration of a bronchodilator (methacholine challenge) (Fig. 27.2).29 PFT measurements are typically used to reveal one or more of the following: (1) decreased forced vital capacity (FVC), (2) decreased forced expiration during the first second of FVC (FEV1), (3) decreased forced expiratory volume compared with forced vital capacity (FEV/FVC), (4) decreased peak expiratory flow rate (PEFR) because of airway obstruction in large or small airways, (5) forced expiratory flow (FEF) during 25% to 75% of FVC (FEF 25% to 75%) because of airway obstruction in the small airways, (6) increased residual volume (RV), and (7) increased functional residual capacity (FRC) because of air trapping.40 Asthma is an obstructive lung disease, meaning the inflamed airways trap the air in the distal

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segments making it hard for the patient to exhale; thus his or her expiratory flows such as FEV1 and PEFR are likely to be low. However, the swelling and mucus may also restrict the patient’s ability to inhale (restrictive lung condition); thus FVC may be low as well. The physician will determine which tests are the most sensitive measures to indicate sickness/wellness for each individual patient.

FIG. 27.2 A spirogram (pulmonary function

testing). (From Frownfelter DL, Dean E: Cardiovascular and pulmonary physical therapy: evidence to practice. St. Louis: Mosby, 2012.)

School-age children and youth with asthma often monitor their pulmonary status at home by daily or weekly testing of their PEFR with a peak flow meter to assist the physician in adjusting medication. A peak flow meter is not a substitute for a formal PFT, but it can help to monitor the child’s condition at home.40 PFTs are generally not reliable for children under the age of 5 years old because they require cooperation and consistent maximal effort.40 Children under the age of 5–6 years old are monitored on the basis of clinical signs and symptoms.10 Asthma guidelines for pediatricians are constantly being updated.26,57 Check the current literature for updates.

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Asthma is a pulmonary disease with recurring symptoms; thus the diagnosis is not typically made until the child is 3 to 5 years of age when numerous episodes of pulmonary problems have been demonstrated and are consistent with symptoms of asthma.40 Initially, a child may be diagnosed with “reactive airway disease.”30 Over time, the physician will determine if the diagnosis of asthma is appropriate. The young child diagnosed with asthma may present with a multiple of risk factors that interact to cause asthma and influence disease severity: family history of asthma or atopic (allergy) predispositions, prematurity, lung abnormalities, exposure to secondhand smoke or other environmental pollutants, history of episodes of wheezy bronchitis, croup, recurrent upper respiratory tract infections, chronic bronchitis, recurrent pneumonia, respiratory distress syndrome, difficulty sleeping, bronchopulmonary dysplasia, respiratory syncytial virus (RSV) infection, gastroesophageal reflux (GERD), sleep dysfunction, rapid weight gain in infancy, obesity later in childhood, chronic dehydration, and low vitamin D levels.16,31,41,42,45,48,51,55,58 Research has recently focused on early life events and exposures that appear to increase the risk of asthma or the risk of disease severity. Significant co-morbidities that contribute to a higher risk of asthma and are easily screened for by pediatric physical therapists are highlighted.

TABLE 27.1 NIH Classification of Asthma Severity

Pediatric asthma severity is classified according to 3 age groups: 0 to 4 years, 5 to 11 years, and 12 years and older. This example is for the older child: youths 12 years old or older.

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From NIH: Expert panel report 3: guidelines for the diagnosis and management of asthma: National Institutes of Health: National Heart, Lung, and Blood Institute. Expert Panel Report 3, p. 43.

Gastroesophageal reflux disease: GERD occurs when stomach acid is involuntarily refluxed up into the esophagus and sometimes into the upper airway, causing chemically induced damage to the tissues.7,13 Reflux can cause hyperirritation to the upper airway, triggering the onset of asthma or contributing to the severity of asthma. Children with asthma work harder to breathe at rest and with exertion. They pull the air in (inhalation) with greater muscular effort to overcome airway restrictions, and some have to push their air out with abdominal muscles (exhalation) to overcome obstructed airways. This increases the pressure differential across the lower esophageal sphincter, increasing risk for developing reflux. There are conflicting results on whether GERD causes asthma or whether it just contributes to disease severity.15,30,52,54 There is agreement that children with suspected asthma should be screened for GERD.42 Sleep: Disrupted or poor sleep patterns are common symptoms of

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asthma41,51 that have been linked to GERD as well.13 What is not understood is which came first: the GERD, the disrupted sleep, or the asthma? Sleep-disordered breathing was found to be significantly more prevalent in individuals with asthma (26%) than age-matched controls (11%), as was habitual snoring (36%, 16%, respectively).20 Sleep dysfunction is an important part of the child’s asthma profile and should be ruled out as a significant contributor to disease severity.9,36,45,51 In children, chronic sleep-disordered breathing is positively correlated with problems in neuropsychological development and adverse brain development, which makes it absolutely critical to rule out a sleep disorder for this high-risk population.24,35 Because of relationships between the quality of sleep and the increased risk for poor health (such as asthma) and impaired cognitive performance, physical therapists should routinely inquire about a child’s sleep pattern to screen for a possible sleep disorder. Infant rapid weight gain: It is known children born preterm are at increased risk of developing asthma,30,55 but there is mounting evidence that rapid weight gain by infants born preterm, especially in the first 3–4 months, is also associated with higher risk of asthma as a school-aged child.48 In a study of > 800 preterm infants, rapid body weight gain in the first year of life was independently associated with an increased risk of developing asthma, whereas increased longitudinal growth in the same period was not associated with an increased risk of asthma.5 The higher risk for asthma with fast weight gain as an infant was also noted in a large study of more than 25,000 infants born full-term who were followed to school age.58 With the current preponderance of evidence on the adverse pulmonary health outcomes of early weight gain, practitioners should be compelled to instruct parents about this modifiable risk factor for asthma. Physical therapists need to be aware of this risk as well. Viral infections: Viral infections, especially severe RSV infection in infancy, is highly associated with a later diagnosis of asthma.55 Two recent studies found inflammatory markers that begin to explain this increased risk.6,46 It is hoped that understanding the physiology of the inflammatory response will lead to improved treatments that lower the risk of developing asthma later in childhood. In the

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meantime, physical therapists should carefully watch children with a history of infant RSV infections for signs of asthma.

Prognosis By adolescence, asthmatic symptoms often decrease. However, even if adolescents are symptom free, they often have impairments in respiratory growth and development. Their lungs are smaller compared with healthy peers, and they are more likely to demonstrate decreased lung function.25,50 Infants born preterm with respiratory problems are even more likely to have lung and airway restrictions later in childhood and young adulthood.6,22,25,38 It is speculated that children born preterm who develop asthma are at higher risk for developing emphysema-like conditions in middle age.4,21,50 This remains an hypothesis, however, because survivors of extreme prematurity have not yet reached middle age. For these reasons, pediatric physical therapists are encouraged to screen and educate children and families about the ongoing risk of developing asthma and other chronic lung diseases all the way into adulthood.

Medical Management Asthma is not a curable disease, so the medical treatment plan is focused on short-term relief and long-term management to control or prevent symptoms as best as possible.40 The NIH has been the leader in developing and disseminating national guidelines on asthma based on the best available evidence and a consensus of asthma experts.40 To see the full, current guidelines go to: http://www.nhlbi.nih.gov/health-pro/guidelines/current/asthmaguidelines/summary-report-2007. Short-term goals focus on managing acute airway obstruction (bronchoconstriction). Longterm management addresses the triggers that cause the bronchial hyperresponsiveness and the underlying inflammatory response. Short term: The frequency, duration, and severity of asthma attacks can be highly variable even for the same individual. Symptoms are usually reversible and can be prevented or modified to some degree when individual-specific triggers are identified. Acute treatment is aimed at reversing the bronchoconstriction; thus bronchodilator medications are the drugs of choice.

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Bronchodilators, such as the generic albuterol, are short-acting beta2-agonists (SABAs).40 Bronchodilators relax the smooth muscles of the airway, providing immediate relief of the constriction, usually within 5 minutes. Relief may last for 3–6 hours. SABAs are inhaled via a metered dose inhaler (MDI) or through a nebulizer treatment (Fig. 27.3). SABAs do not control asthma, but they are typically used to manage acute asthma attacks or purposely taken before a known trigger such as exercise (exercise-induced asthma). The most common adverse side effects are rapid heart rate, headaches, nausea, and anxiety. The physician takes the child’s individual response to SABAs into account when developing an asthma plan of care. Typically, when SABAs are used more than 2×/week, the plan of care is adjusted to focus on long-term control rather than quick acute relief.40 If an asthma attack is severe and does not respond to bronchodilator medications, the child may develop status asthmaticus.40 This is a life-threatening emergency. Physical therapists should stop treatment immediately and seek medical attention by the hospital emergency team (in-patient setting) or by calling for an ambulance (community setting).

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FIG. 27.3 Nebulized aerosol treatment with a

mouthpiece. (Courtesy Texas Children’s Hospital, Houston. From Hockenberry MJ, Wilson D: Wong’s nursing care of infants and children. 10th ed. St, Louis: Mosby, 2015.)

Long term: The goals of long-term asthma management are to prevent chronic and troublesome symptoms, to maintain pulmonary function and physical activity level, to prevent recurrent exacerbations, to minimize the need for emergency room visits or

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hospitalizations, to provide optimal pharmacotherapy, and to meet the patient’s and family’s expectations and satisfaction.40 To achieve all of the goals, no two medical care plans will be exactly the same. Each written action plan should address disease severity, disease control, and responsiveness to treatment and should be considered a fluid document that changes with the child over time.40 NIH guidelines have specific treatment plan suggestions based on the disease severity: intermittent asthma, or persistent asthma (mild, moderate, or severe) (see Table 27.1). In addition to managing asthma itself, it is critical to manage the co-morbidities that influence disease severity such as allergens, environmental factors (e.g., smoke, pollutants), exercise response (exercise-induced asthma), GERD, sleep dysfunction, rhinitis, sinusitis, obesity, stress, depression, nutrition, etc.40 Factors that can be easily modified such as allergies, secondhand smoke, initiating exercise safely to avoid EIA response, and weight gain should be addressed immediately. After assessing the child’s response to the initial program and assessing the risk of exacerbations, the action plan should be appropriately modified. This plan should be shared with school and other personnel who are involved with the child on a regular basis. The child’s or family’s knowledge, understanding, and willingness to follow through (adherence) with the program are essential for successful long-term management of asthma.18,40 Researchers have repeatedly found poorer health outcomes for children with poor adherence to their asthma treatment plans and are continually looking for methods to improve adherence.44,49 Medications: The current NIH Publication on the Guidelines for Asthma describes a terraced approach to pharmacologic management for long-term control of asthma.40 Recommendations for dosing medication are based on severity and age (0 to 4 years, 5 to 11 years, and 12 years and older) because evidence indicates that children respond differently to asthma medications than adults. Long-term control starts with managing the inflammatory component of asthma. Inhaled corticosteroids continue to be the drug of choice across all age groups for long-term management of inflammation.40 Cromolyn sodium and nedocromil medications are used to stabilize the mast cell response and may be useful in managing exercise-induced asthma symptoms and allergen

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triggers.40 Other medications include immunomodulators, leukotriene modifiers, long-acting beta2-agonists, and methylxanthines. These medications are more likely to be prescribed if the child’s symptoms are not well controlled using an inhaled corticosteroid. Most children take a combination of medications, each adjusted to meet their asthma management goals. Physical therapists need to understand the pharmacologic management of their patients with asthma. Although the medications used in the management of asthma are necessary, the side effects may have an unintended impact on daily life. For example, oral corticosteroids may cause an increased appetite and weight gain, fluid retention, increased bruising, and mild elevation of blood pressure.40 Other side effects reported from asthma medications include nervousness, headache, trembling, heart palpitations, dizziness or light-headedness, dryness or irritation of the mouth and throat, heartburn, nausea, bad taste in the mouth, restlessness, difficulty concentrating, and insomnia.40 Thus for children with asthma, adverse motor, cognitive, or emotional behaviors could be related to their medication and should be ruled out as a factor for such behaviors. For example, concentration difficulties could be misdiagnosed as a primary attention deficit disorder; anxiety consequences could be misdiagnosed as primary psychological disorder; overeating could be misdiagnosed as a primary eating disorder; and dizziness and trembling consequences could be misdiagnosed as primary motor impairments to balance and fine motor performance and ultimately to the child’s participation level. New drugs are constantly being researched and developed; thus, any listing of medications is relevant only within a limited time frame. The overall goal of long-term asthma management is to find the medication or combination of medications that will stop the inflammatory process at an earlier point or prevent the presentation of asthma altogether. As the understanding of the pathophysiology and genetics of asthma increases, new medications with more specific but fewer side effects will likely be developed. Medications to address coexisting conditions such as allergies and GERD will also contribute to the effective management asthma. Physical therapists should communicate with the child’s physician about

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current medications and the implications for optimal physical activity and endurance.

Secondary Impairments Quality of Life Asthma is a chronic condition that is managed, not cured. Thus the diagnosis of asthma affects the life of the entire family and not just the child.57 Numerous quality-of-life studies show extensive effects on family life.8,14,56 For example, adolescents with asthma don’t thrive as well as their nonasthmatic peers.39 This poor outcome is exacerbated when parents aren’t coping well with the child’s asthma.39 Other family decisions reflect the parents’ concerns for their child’s health. For example, parents may restrict their child’s participation in normal childhood activities out of fear of asthma exacerbations or social retributions.56 In fact, it is not only the child who suffers from restricted participation. Parents are forced to miss days of work just like the child is forced to miss days of school; taken together they reduce the quality of life for the entire family.47 Growing up with this chronic childhood disease undoubtedly influences quality of life and choices made by individuals with asthma across the life span.17 In fact, a recent study shows that 88% of adults with moderate to severe asthma report that their asthma is not well controlled, which negatively affects their burden of care and life choices.59 When developing a plan of care for children with asthma, physical therapists are encouraged to engage the child and family in conversation about health and wellness, suggesting how the child can safely participate in his or her preferred physical and social activities. The therapist’s recommendations should support the importance of adherence to medical management and encourage the child’s self-management.

Growth and Development Children with asthma are often shorter than their peers. Prolonged use of high-dose inhaled corticosteroids has been shown to reduce height compared to peers without asthma.53 Recognition of the

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potential for reduced height as an adult is taken into consideration when developing a plan of care, but control of the child’s asthma is paramount. Some modifications include recognition that bone mineral density (BMD) levels were better maintained with inhaled corticosteroids rather than with frequent bursts of oral corticosteroids.19 Thus physicians may alter their choice of medication or delivery to control asthma while trying to minimize adverse secondary effects. Current recommendations call for the lowest dose of inhaled corticosteroids that will control the asthma symptoms but minimize the adverse effect on the child’s musculoskeletal development to optimize adult lung growth and height growth and to maximize BMD.19 Vitamin D is being explored as an asthma supplement to counteract the adverse effects of inhaled corticosteroids on height and BMD. Early results are promising, but more long-term studies are needed.16

Financial Impact on the Family and Society According to the CDC, asthma is associated with the high related costs of care, reportedly topping $56 billion a year: http://www.cdc.gov/asthma/impacts_nation/asthmafactsheet.pdf. Children with moderate to severe asthma had higher costs, and those with exacerbations had the highest care costs.28 Thus having a child with asthma not only increases the family’s focus on the child’s medical needs but also consumes the family’s and the community’s financial resources.

Foreground Information Physical Therapy Management Physical therapists are traditionally involved in exercise programs for children with asthma, and studies have shown the efficacy of such programs in improving endurance and decreasing asthmatic symptoms.43 The specifics of exercise testing and the development of a fitness program are covered in Chapter 6 and will not be covered here. Endurance programs such as treadmill training, which are also common, will not be covered either because this

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author prefers to find ways to improve fitness and endurance through participation in typical childhood activities rather than in contrived activities, circumstances permitting. If physical fitness is seen as an “exercise duty,” it is this author’s experience that the child and family are less likely to follow through, seeing physical exercise as a chore rather than an opportunity for growth. Interventions that improve adherence to the child’s asthma program are associated with improved health outcomes; thus finding exercises or activities that a child likes to do is well matched with those desired outcomes (Fig. 27.4).44

FIG. 27.4 Seven-year-old boy with asthma playing

baseball. This is representative of an exercise that the child enjoys doing.

The child with asthma may need more than a nudge and emotional support to engage in age-appropriate physical activities. Few studies address possible secondary physical restrictions due to asthma (or other childhood chronic pulmonary diseases), such as

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adverse musculoskeletal changes/alignments and neuromotor strategies for breathing or trunk control that could limit the child’s functional potential.34,37 In the Guide to Physical Therapist Practice, physical therapy is defined as a “profession with … widespread clinical applications in the restoration, maintenance and promotion of optimal physical function.”23 Thus if physical function and activity limitations are identified as occurring secondary to asthma, physical therapy would be the appropriate service to restore, maintain, and promote optimal physical functioning and address activity limitations. Physical therapy examination and evaluation and considerations for physical therapy interventions will be discussed in an in-depth case longitudinal scenario presented on Expert Consult. The case involves “Jonathan,” who was referred to physical therapy at age 9 because his exercise-induced asthma limited his ability to participate in competitive soccer. In addition, a congenital chest wall deformity (pectus excavatum) was exacerbated by his asthma and further limited his inspiratory capacity and posture. The case scenario is intended to: (1) inform the physical therapist of the process of a differential diagnosis for the potential physical and activity limitations that may occur in children with asthma and (2) present intervention strategies and procedures to enable children with asthma to play and participate in age-appropriate physical activities with peers, rather than participating in adult-supervised exercise programs. This is an especially important consideration for children with exercise-induced asthma because it is a common reason for decreased participation in school-age activities. Longterm outcomes from these interventions are presented.

Summary This chapter presented the pathophysiology and current medical management strategies associated with childhood asthma. Asthma has three primary traits: airway inflammation, airway obstruction, and bronchial hyperresponsiveness to stimuli. The pathophysiology is complex and interactive; thus physical therapy and medical plans of care must be developed specific to each patient. The child and family’s adherence to the medical management of asthma is critical

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to positive long-term outcomes. A detailed longitudinal case scenario on Expert Consult illustrates physical therapist diagnosis and management from a multisystem and multidiscipline perspective. Therapists are encouraged to screen for impairments in cardiopulmonary, neuromuscular, musculoskeletal, integumentary, and gastrointestinal systems that contribute to activity limitations and participation restrictions that cannot be fully explained by asthma alone. The individualized physical therapy program presented in the case scenario along with the short-term and longterm outcomes serve as a template for setting goals and planning interventions for children with asthma.

Case Scenario on Expert Consult The case scenario related to this chapter demonstrates the process of a differential physical therapy diagnosis for potential physical and activity limitations secondary to asthma. There is a special focus on the potential long-term outcomes of physical therapy procedural interventions on the maturation and physical performance of a child with asthma.

References 1. Akinbami L.J, Kit B.K, Simon A.E. Impact of environmental tobacco smoke on children with asthma, United States, 2003-2010. Acad Pediatr. 2013;13(6):508–516. 2. Akinbami L.J, Moorman J.E, Simon A.E, Schoendorf K.C. Trends in racial disparities for asthma outcomes among children 0 to 17 years, 2001-2010. J Allergy Clin Immunol. 2014;134(3):547–553 e545. 3. Balkissoon R, Kenn K. Asthma: vocal cord dysfunction (VCD) and other dysfunctional breathing disorders. Semin Respir Crit Care Med. 2012;33(6):595–605. 4. Baraldi E, Carraro S, Filippone M. Bronchopulmonary dysplasia: definitions and long-term respiratory outcome. Early Hum Dev. 2009;85(Suppl 10):S1–S3.

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5. Belfort M.B, Cohen R.T, Rhein L.M, McCormick M.C. Preterm infant growth and asthma at age 8 years. Arch Dis Child Fetal Neonatal Ed. 2016;101:F230–F234. 6. Bertrand P, Lay M.K, Piedimonte G, et al. Elevated IL-3 and IL-12p40 levels in the lower airway of infants with RSVinduced bronchiolitis correlate with recurrent wheezing. Cytokine. 2015;76(2):417–423. 7. Bhatia J, Parish A. GERD or not GERD: the fussy infant. J Perinatol. 2009;29(Suppl 2):S7–S11. 8. Bravata D.M, Gienger A.L, Holty J.E, et al. Quality improvement strategies for children with asthma: a systematic review. Arch Pediatr Adolesc Med. 2009;163(6):572–581. 9. Brockmann P.E, Bertrand P, CastroRodriguez J.A. Influence of asthma on sleep disordered breathing in children: a systematic review. Sleep Med Rev. 2014;18(5):393–397. 10. Callahan K.A, Panter T.M, Hall T.M, Slemmons M. Peak flow monitoring in pediatric asthma management: a clinical practice column submission. J Pediatr Nurs. 2010;25(1):12– 17. 11. Centers for Disease Control and. Prevention: vital signs: asthma prevalence, disease characteristics, and selfmanagement education: United States, 2001–2009. MMWR Morb Mortal Wkly Rep. 2011;60(17):547–552. 12. Cherniack R.M, Cherniack L. Respiration in health and disease. ed 3. Philadelphia: WB Saunders; 1983. 13. Czinn S.J, Blanchard S. Gastroesophageal reflux disease in neonates and infants: when and how to treat. Paediatr Drugs. 2013;15(1):19–27. 14. Dean B.B, Calimlim B.M, Kindermann S.L, et al. The impact of uncontrolled asthma on absenteeism and health-related quality of life. J Asthma. 2009;46(9):861–866. 15. Deeb A.S, Al-Hakeem A, Dib G.S. Gastroesophageal reflux in children with refractory asthma. Oman Med J. 2010;25(3):218–221. 16. Fares M.M, Alkhaled L.H, Mroueh S.M, Akl E.A. Vitamin D

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supplementation in children with asthma: a systematic review and meta-analysis. BMC Res Notes. 2015;8:23. 17. Fletcher J.M, Green J.C, Neidell M.J. Long term effects of childhood asthma on adult health. J Health Econ. 2010;29(3):377–387. 18. Friend M, Morrison A. Interventions to improve asthma management of the school-age child. Clin Pediatr (Phila). 2015;54(6):534–542. 19. Fuhlbrigge A.L, Kelly H.W. Inhaled corticosteroids in children: effects on bone mineral density and growth. Lancet Respir Med. 2014;2(6):487–496. 20. Goldstein N.A, Aronin C, Kantrowitz B, et al. The prevalence of sleep-disordered breathing in children with asthma and its behavioral effects. Pediatr Pulmonol. 2015;50(11):1128–1136. 21. Grad R, Morgan W.J. Long-term outcomes of early-onset wheeze and asthma. J Allergy Clin Immunol. 2012;130(2):299– 307. 22. Greenough A, Alexander J, Boit P, et al. School age outcome of hospitalisation with respiratory syncytial virus infection of prematurely born infants. Thorax. 2009;64(6):490–495. 23. Guide to Physical Therapist Practice, 3:0 Available at: URL. http://www.apta.org/Guide/. 24. Halbower A.C, Barker P.J, et al. Childhood obstructive sleep apnea associates with neuropsychological deficits and neuronal brain injury. PLoSMed. 2006;3(8):1391–1401. 25. Harmsen L, Ulrik C.S, Porsbjerg C, et al. Airway hyperresponsiveness and development of lung function in adolescence and adulthood. Respir Med. 2014;108(5):752– 757. 26. Huffaker M.F, Phipatanakul W. Pediatric asthma: guidelines-based care, omalizumab, and other potential biologic agents. Immunol Allergy Clin North Am. 2015;35(1):129–144. 27. Idrees M, FitzGerald J.M. Vocal cord dysfunction in bronchial asthma. A review article. J Asthma. 2015;52(4):327–335. 28. Ivanova J.I, Bergman R, Birnbaum H.G, et al. Effect of

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asthma exacerbations on health care costs among asthmatic patients with moderate and severe persistent asthma. J Allergy Clin Immunol. 2012;129(5):1229–1235. 29. Joseph-Bowen J, de Klerk N.H, Firth M.J, Kendall G.E, Holt P.G, Sly P.D. Lung function, bronchial responsiveness, and asthma in a community cohort of 6-year-old children. Am J Respir Crit Care Med. 2004;169(7):850–854. 30. Kase J.S, Pici M, Visintainer P. Risks for common medical conditions experienced by former preterm infants during toddler years. J Perinat Med. 2009;37(2):103–108. 31. Kippelen P, Fitch K.D, Anderson S.D, et al. Respiratory health of elite athletes–preventing airway injury: a critical review. Br J Sports Med. 2012;46(7):471–476. 32. Levy B.D, Noel P.J, Freemer M.M, et al. Future Research Directions in Asthma: an NHLBI Working Group Report. Am J Respir Crit Care Med. 2015;192(11):1366–1372. 33. Lowhagen O. Diagnosis of asthma–new theories. J Asthma. 2015;52(6):538–544. . 34. Lunardi A.C, Marques da Silva C.C, Rodrigues Mendes F.A, et al. Musculoskeletal dysfunction and pain in adults with asthma. J Asthma. 2011;48(1):105–110. 35. Mahoney D. Treating kids’ sleep apnea can improve brain function (according to Dr. Ann Halbower). Chest Physician. 2012;7(8):11. 36. Marcus C.L, Brooks L.J, Draper K.A, et al. Diagnosis and management of childhood obstructive sleep apnea syndrome. Pediatrics. 2012;130(3):576–584. 37. Massery M. Musculoskeletal and neuromuscular interventions: a physical approach to cystic fibrosis. J R Soc Med. 2005;98(Suppl 45):55–66. 38. Metsala J, Kilkkinen A, Kaila M, et al. Perinatal factors and the risk of asthma in childhood–a population-based register study in Finland. Am J Epidemiol. 2008;168(2):170–178. 39. Nabors L.A, Meerianos A.L, Vidourek R.A, et al. Predictors of flourishing for adolescents with asthma. J Asthma. 2015:1–9. 40. NIH. Expert panel report 3: guidelines for the diagnosis and

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management of asthma. National Institutes of Health: National Heart, Lung, and Blood Institute; 2007 Expert Panel Report 3. 41. Parish J.M. Sleep-related problems in common medical conditions. Chest. 2009;135(2):563–572. 42. Patra S, Singh V, Chandra J, et al. Gastro-esophageal reflux in early childhood wheezers. Pediatr Pulmonol. 2011;46(3):272–277. 43. Philpott J.F, Houghton K, Luke A. Physical activity recommendations for children with specific chronic health conditions: juvenile idiopathic arthritis, hemophilia, asthma, and cystic fibrosis. Clin J Sport Med. 2010;20(3):167– 172. 44. Reddel H.K, Bateman E.D, Becker A, et al. A summary of the new GINA strategy: a roadmap to asthma control. Eur Respir J. 2015;46(3):622–639. 45. Ross K.R, Storfer-Isser A, Hart M.A, et al. Sleep-disordered breathing is associated with asthma severity in children. J Pediatr. 2012;160(5):736–742. 46. Saravia J, You D, Shrestha B, et al. Respiratory syncytial virus disease is mediated by age-variable IL-33. PLoS Pathol. 2015;11(10):e1005217. 47. Schmier J.K, Manjunath R, Halpern M.T, Jones M.L, Thompson K, Diett impact of inadequately controlled asthma in urban children on quality of life and productivity. Ann Allergy Asthma Immunol. 2007;98(3):245–251. 48. Sonnenschein-van der Voort A.M, Howe L.D, Granell R, et al. Influence of childhood growth on asthma and lung function in adolescence. J Allergy Clin Immunol. 2015;135(6):1435–1443 e1437. 49. Stanford R.H, Gilsenan A.W, Ziemiecki R, et al. Predictors of uncontrolled asthma in adult and pediatric patients: analysis of the Asthma Control Characteristics and Prevalence Survey Studies (ACCESS). J Asthma. 2010;47(3):257–262. 50. Stocks J, Hislop A, Sonnappa S. Early lung development: lifelong effect on respiratory health and disease. Lancet

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Respir Med. 2013;1(9):728–742. 51. Teodorescu M, Broytman O, Curran-Everett D, et al. Obstructive sleep apnea risk, asthma burden, and lower airway inflammation in adults in the Severe Asthma Research Program (SARP) II. J Allergy Clin Immunol Pract. 2015;3(4):566–575 e561. 52. Thakkar K, Boatright R.O, Gilger M.A, ElSerag H.B. Gastroesophageal reflux and asthma in children: a systematic review. Pediatrics. 2010;125(4):e925–e930. 53. Umlawska W, Gaszczyk G, Sands D. Physical development in children and adolescents with bronchial asthma. Respir Physiol Neurobiol. 2013;187(1):108–113. 54. Valet R.S, Carroll K.N, Gebretsadik T, et al. Gastroesophageal reflux disease increases infant acute respiratory illness severity, but not childhood asthma. Pediatr Allergy Immunol Pulmonol. 2014;27(1):30–33. 55. Van Bever H.P. Determinants in early life for asthma development. Allergy Asthma Clin Immunol. 2009;5(1):6. 56. van den Bemt L, Kooijman S, Linssen V, et al. How does asthma influence the daily life of children? Results of focus group interviews. Health Qual Life Outcomes. 2010;8:5. 57. VanGarsse A, Magie R.D, Bruhnding A. Pediatric asthma for the primary care practitioner. Prim Care. 2015;42(1):129–142. 58. Wandalsen G.F, Chong-Neto H.J, de Souza F.S, et al. Early weight gain and the development of asthma and atopy in children. Curr Opin Allergy Clin Immunol. 2014;14(2):126– 130. 59. Wertz D.A, Pollack M, Rodgers K, Bohn R.L, Sacco P, Sullivan S.D. Imp of asthma control on sleep, attendance at work, normal activities, and disease burden. Ann Allergy Asthma Immunol. 2010;105(2):118–123.

Suggested Readings Levy B.D, Noel P.J, Freemer M.M, et al. Future Research Directions in Asthma: an NHLBI Working Group Report. Am J Respir Crit Care Med. 2015;192(11):1366–1372.

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NIH: Expert panel report 3: guidelines for the diagnosis and management of asthma: National Institutes of Health: National Heart, Lung, and Blood Institute. Expert Panel Report 3. Available at: URL: http://www.nhlbi.nih.gov/health-pro/guidelines/current/asthmaguidelines/summary-report-2007. Sonnenschein-van der Voort A.M, Howe L.D, Granell R, et al. Influence of childhood growth on asthma and lung function in adolescence. J Allergy Clin Immunol. 2015;135(6):1435–1443.

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Congenital Heart Conditions Betsy Howell, and Chris D. Tapley

Approximately 6 to 10 in 1000 children are born each year with moderate and severe forms of congenital heart defects.88 Early detection, often prenatal, and improved medical and surgical management combine with the type of defect and the individual child characteristics to determine the impact. For example, two children, each diagnosed with a ventricular septal defect, may have entirely different histories. One child may go undiagnosed for several years, whereas the other child may require surgery in infancy. Many children are now diagnosed in utero—an especially important development for children with hypoplastic left heart syndrome (HLHS). In the past, most congenital heart defects were repaired when the child was at least 1 year old, often older. These surgeries are now being performed during the first days and months of life, which is likely to affect how children with congenital heart defects grow and develop. The likelihood of a physical therapist treating a child who has previously had open-heart surgery is greater now that more children survive open-heart surgery. The number of adults who have survived surgery in childhood for congenital heart defects continues to increase. Physical therapists serving children with congenital heart conditions are encouraged to closely monitor and document the nature and extent of developmental differences that may result

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from surgical repair, as well as potential neurologic impairments related to the cardiac defect itself or to postoperative complications. To prepare therapists for this task, this chapter describes congenital heart defects; surgical repairs, including heart transplantation and mechanical assistive devices; acute and chronic physical impairments secondary to heart defects and surgery; and profound cyanosis or neurologic implications and complications. Physical therapy management following cardiac surgery and ongoing management of infants, children, and adolescents with congenital cardiac defects is presented.

Background Information Although embryologists can identify at what point during fetal development certain defects occur and what risk factors may contribute to their development, the cause of congenital heart defects remains largely unknown. The presence of more than one child with congenital heart defect in the same family or in the family history suggests a possible genetic component. Heart defects may be associated with Down syndrome, Turner syndrome, Williams syndrome, Marfan syndrome, Costello syndrome, DiGeorge syndrome, and the VATERL association, an acronym for the following characteristics: vertebrae, imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal anomalies, and limb anomalies. The American Heart Association published a lengthy statement on current knowledge of the genetic basis for congenital heart defects167 that describes in detail many of the above syndromes and their chromosomal disorders and associated cardiac defects. The American Heart Association has also published a lengthy statement on noninherited risk factors linked to congenital heart defects.98 Infants of diabetic mothers also have an increased incidence of congenital heart disease (CHD). Other noninherited risk factors found to be associated with congenital heart defects are maternal phenylketonuria, rubella, maternal obesity, and many different medications.98 Women who used a multivitamin supplement before or just after conception were reported to have a significant reduction in the incidence of cardiac defects in their children.29

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Diagnosis of cardiac impairments may occur during prenatal life or at birth. Some congenital heart defects require immediate attention, and others may be followed by further evaluation. Even with improved diagnostic techniques, some infants with severe cyanotic disease are not diagnosed before they are discharged to home, but several weeks later they may be diagnosed with a heart defect when they develop symptoms of septic shock. Prenatal diagnosis is essential for some diagnoses, especially hypoplastic left heart syndrome. In a review of mortality rates and the number of cardiac cases performed each year by different institutions, those with smaller surgical programs had increased mortality rates when outcomes of the more severe defects were compared.223 Other cardiac defects may not be diagnosed until much later, even as late as adolescence. For example, coarctation of the aorta is occasionally diagnosed during a sports physical examination when a large difference between upper and lower extremity blood pressures or an abnormally high upper extremity blood pressure is observed. The infant with a congenital heart defect often has abnormal respiratory signs, including a labored breathing pattern and an increased respiratory rate. The infant may be diaphoretic and tachycardic. Symptoms may include edema around the eyes and decreased urine output (evidenced by dry diapers). Eating problems result from difficulty in coordinating sucking and swallowing with breathing at an increased rate. Irritability that is difficult to assuage may be noted. These symptoms of congestive heart failure can lead to the diagnosis of a cardiac defect or can provide evidence of worsening of a known defect. Congenital heart defects are usually classified as acyanotic or cyanotic. With acyanotic conditions, the child is pink and has normal oxygen saturation. If mixing or shunting of blood occurs within the heart, the blood shunts from the left side of the heart to the right side, so oxygenated blood goes to the lungs as well as to the body. Common acyanotic lesions include atrial septal defects (ASDs), ventricular septal defects (VSDs), patent ductus arteriosus (PDA), coarctation of the aorta, pulmonary stenosis, and aortic stenosis.

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FIG. 28.1 Anatomy of the heart.

In cyanotic heart conditions, blood is typically shunted from the right side of the heart to the left side. Unoxygenated blood is then returned to the body, resulting in arterial oxygen saturation levels

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15% to 30% below normal values. Common cyanotic lesions include tetralogy of Fallot, transposition of the great arteries, tricuspid atresia, pulmonary atresia, truncus arteriosus, total anomalous pulmonary venous return, and hypoplastic left heart syndrome. Type and timing of intervention depend on the defect and the child’s age. Some defects are repaired immediately, whereas others require a staged procedure, with the first of several surgeries being palliative rather than corrective. Some acyanotic defects are not repaired until the child is several years old.140 Concerns regarding neurologic complications following surgery and their impact on long-term functional and cognitive development continue to be examined as an increasing number of infants survive earlier and more complex surgeries.120 Acyanotic and cyanotic defects are further described in the next two sections and may be compared with normal anatomy of the heart (Fig. 28.1). Table 28.1 summarizes the common types of congenital heart defects, their typical surgical repair, and associated impairments and functional limitations described in the following sections. TABLE 28.1 Summary of Congenital Heart Defects, Surgical Repair, and Associated Issues

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FIG. 28.2 Atrial septal defect.

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Acyanotic Defects Atrial Septal Defect Atrial septal defect, one of the most common congenital heart defects, is an abnormal communication between left and right atria (Fig. 28.2). The defect is classified by its location on the septum. Blood is generally shunted from the left atrium to the right atrium. This defect generally does not require immediate repair because of slow progression of damage to the heart and lungs. The timing of surgery depends on the age of the child, when the diagnosis is confirmed, and how symptomatic the child is, but it typically occurs during the first 5 years of life. If a child has more severe symptoms, the defect is repaired sooner.10 Some adults with signs of heart failure have a previously undiagnosed ASD. As medical technology advances, late diagnoses should become rare. Closure of an ASD is usually done by placing a septal occluder or synthetic material to close the hole that is inserted via cardiac catheterization. Surgical repair may still occur if the ASD is in an unusual position, making it difficult to close via cardiac catheterization, or if the patient has other cardiac defects requiring repair. Surgery may be done through a median sternotomy incision; however, minimal-access techniques can be used, which can entail a smaller incision of approximately 4 cm.10,103 Suture closure or, for larger defects, a patch closure is usually used to close the defect when surgery is necessary.10,103 A longitudinal study of patients undergoing closure of an ASD during childhood reported excellent survival and low morbidity rates.182

Ventricular Septal Defect VSD is the most common congenital heart defect, accounting for up to 40% of cardiac anomalies.28 VSD can be present alone or in association with other defects such as tetralogy of Fallot and transposition of the great arteries. VSD alone is discussed here. A VSD is a communication between the ventricles that allows blood to be shunted between them, generally from left to right (Fig. 28.3).

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The increase in blood flow through the right ventricle to the lungs may lead to pulmonary hypertension. In severe cases, in which pulmonary pressures exceed systemic pressures, shunting switches from right to left, which is often termed Eisenmenger syndrome.142 A large defect may lead to early left ventricular failure. An infant with a large VSD has signs of severe respiratory distress, diaphoresis, and fatigability, especially during feeding, when the infant’s endurance is stressed.28 The infant’s weight is dramatically affected in this situation. A child severely affected requires a much earlier surgical repair than a child who is asymptomatic.

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FIG. 28.3 Ventricular septal defect.

Small defects may close spontaneously. Defects that compromise the clinical status of the patient must be surgically closed. The timing of surgery varies, depending on the child’s tolerance of the

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defect. A child with a larger defect undergoes surgery earlier to diminish the negative effects on growth and the pulmonary system. Surgical intervention is provided through a mediastinal approach and usually requires a synthetic patch closure.28,142 Transcatheter devices are now being used with regularity and good success to close muscular VSDs but not as successfully as with perimembranous VSDs.142

Patent Ductus Arteriosus The ductus arteriosus is a large vessel that connects the main pulmonary artery to the descending aorta (Fig. 28.4). It usually closes soon after birth but will dilate (remains patent) in response to hypoxia or prostaglandins E1 and E2. The ability to maintain patency of the ductus arteriosus becomes important in certain cyanotic heart defects (to be discussed later). Spontaneous closing of the ductus arteriosus can create a critical situation in the infant with an undiagnosed heart defect.64 In some cases spontaneous closure does not occur. Reasons for nonclosure in the term infant are unclear but are thought to be due to ductal abnormalities, genetic factors, and some congenital infections. A high incidence of patency is found in premature infants because of respiratory distress syndrome and the resulting hypoxia.152

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FIG. 28.4 Patent ductus arteriosus.

Several options are available if the PDA fails to close spontaneously or with medication. One option is video-assisted thoracoscopic surgery, which involves several small thoracostomies

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and results in no chest wall muscles being cut and no rib retraction.152 Another option is transcatheter coil occlusion performed by cardiac catheterization, which can be an outpatient procedure. This is the preferred method of closure with all but the youngest children. Video-assisted and coil occlusion techniques are less traumatic, can reduce hospital stay,64 and may decrease the risk of scoliosis, which is associated with thoracotomy. A left thoracotomy incision is the standard operative approach if videoassisted and coil occlusion cannot be performed. The ductus is ligated and sutured.

Coarctation of the Aorta Coarctation of the aorta is defined as a narrowing or closing of a section of the aorta (Fig. 28.5). It may occur in isolation or in conjunction with other defects including bicuspid aortic valve, VSD, and in the neonatal population PDA.116 Infants with a severe narrowing may develop cardiovascular collapse following closure of the ductus arteriosus. Early repair is necessary when a child is severely symptomatic.9 The child or adult without symptoms may go undiagnosed until a routine physical examination reveals a hypertension.9 Surgical intervention is generally the method of treating coarctation of the aorta. Access to the aorta is gained through a left thoracotomy, after which the aorta is repaired with an end-to-end anastomosis, a subclavian flap, or a patch aortoplasty. The coarctation can also be treated via cardiac catheterization using a balloon that is inflated in the constricted area, although this has been shown to have higher complications.9

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FIG. 28.5 Coarctation of the aorta.

Pulmonary Stenosis 2147

Pulmonary stenosis, a narrowing of the right ventricular outflow tract, is classified by the location of the narrowing relative to the pulmonary valve. It often occurs in association with other heart defects. Timing of intervention depends on the severity of the narrowing and the degree of functional compromise, as well as on when pressure in the right ventricle becomes too high. Intervention is generally a balloon valvotomy that is performed via cardiac catheterization. Surgery when necessary is performed through a median sternotomy; the type of surgical procedure depends on the site of narrowing. A valvotomy may be performed, or, in severe cases, the valve may need to be replaced.95

Aortic Stenosis Aortic stenosis, a narrowing of the left ventricular outflow tract, is classified by its relation to the aortic valve (supravalvular, valvular, or subvalvular) (Fig. 28.6). The narrowing will cause the left ventricle to work harder to pump blood through the narrowing. Depending on location and severity of obstruction surgical correction is indicated. Surgical technique will vary dependent on type and location of stenosis.31

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Cyanotic Defects Tetralogy of Fallot Tetralogy of Fallot is the most common complex cardiac defect with an estimated incidence of 3.3 per 10,000 live births. The primary abnormalities that occur in the tetralogy of Fallot are a VSD, right ventricular outflow tract obstruction, an aorta that overrides the right ventricle, and hypertrophy of the right ventricle (Fig. 28.7).155 Clinical manifestations depend on the severity of obstruction of the right ventricular outflow tract. With increasing obstruction, an increase in cyanosis is observed over the first 6–12 months of life. Some children will develop hypercyanosis, or “tet spells,” which are periods of profound systemic hypoxemia typically occurring in the context of crying, eating, or defecation. These spells are characterized by a marked decrease in pulmonary blood flow and an increase in the right-to-left shunt across the VSD into the left ventricle and out the aorta and are characterized by dyspnea, syncope, and deepening cyanosis.155 Cyanotic episodes can be relieved by squatting or by bringing the knees to the chest. These maneuvers are believed to increase systemic vascular resistance and ultimately to increase pulmonary blood flow. Medical management including increasing blood volume with fluid administration or transfusion, treating acidosis with bicarbonate, sedation, and use of medication to increase systemic vascular resistance may be necessary.155

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FIG. 28.6 Aortic stenosis.

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FIG. 28.7 Tetralogy of Fallot.

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FIG. 28.8 Transposition of the great arteries.

Surgical intervention depends on the patient’s symptoms and overall clinical picture. If possible, a complete repair is usually done early in life. Early palliation may be necessary if an infant is

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severely involved and would probably not survive corrective surgery. The palliative procedure used most often is a modified Blalock-Taussig (BT) shunt performed through a median sternotomy. The modified BT shunt involves a 3.5- or 4-mm GoreTex shunt being anastomosed end to side to the innominate artery and to the ipsilateral branch pulmonary artery, providing increased pulmonary blood flow while the infant gains more time to grow before undergoing corrective surgery.205 Infants who receive early palliation continue to have cyanosis until complete repair is performed. Corrective surgery involves closing the VSD and relieving the right outflow tract obstruction. After surgical repair a high incidence of ventricular and atrial arrhythmias has been seen and should be considered as activity is progressed.205 Early (hospital) mortality rate following repair is reported to be between 1% and 5%.155

Transposition of the Great Arteries In transposition of the great arteries, the pulmonary artery arises from the morphologic left ventricle, and the aorta arises from the right ventricle (Fig. 28.8).50 In the absence of other defects, systemic blood returns to the body unoxygenated and pulmonary blood returns to the lungs fully oxygenated. This situation is not compatible with life unless the ductus arteriosus remains patent. Immediate intervention, usually with infusion of prostaglandin E1, is necessary to keep the ductus arteriosus open. An atrial septostomy is performed by a cardiac catheterization to keep the child alive until surgical intervention occurs.141 The preferred surgical technique for correction of transposition of the great arteries is the arterial switch procedure. Surgery during the first 2 to 4 weeks of life is desirable so that the left ventricle meets the systemic demands. Surgical repair occurs through a median sternotomy and involves transecting the aorta and pulmonary artery. The coronary arteries are excised with a wide button of aortic tissue and reimplanted in the old pulmonary arterial vessel; the great vessels are then switched and anastomosed so that the aorta connects to the left ventricle and the pulmonary

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artery connects to the right ventricle. The arterial switch procedure produces results that are free of the dysrhythmias and right ventricular failure associated with Mustard or Senning techniques.141 Previously the Mustard or Senning techniques were used to redirect the venous return to the atria by baffles or flaps of atrial wall, respectively. These techniques leave the right ventricle as the pumping chamber for the system creating a physiologic but not anatomic correction.141 The Mustard or Senning techniques are generally not used anymore due to complications including superior vena caval obstruction, baffle leak, atrial and ventricular arrhythmias, tricuspid valve insufficiency, and right ventricular failure.141 Therapists may see teenage or young adult patients who have had this repair. The Rastelli procedure is a surgical technique used when a severe left ventricular outflow tract obstruction and a VSD coexist. Repair usually occurs when the child is between 6 and 12 months old. A conduit diverts blood from the left ventricle through the VSD and the right ventricle to the aorta, a right ventricle–to–pulmonary artery conduit is formed, and any previous shunts are eliminated.141

Tricuspid Atresia Tricuspid atresia is failure of development of the tricuspid valve, resulting in lack of communication between the right atrium and the right ventricle. Usually, an ASD or a VSD or both exist to allow pulmonary blood flow (Fig. 28.9). Right-to-left shunt allows mixing of unoxygenated and oxygenated blood, causing the child to be cyanotic. The right ventricle is frequently underdeveloped.172 Surgical repair is staged, with the initial operation shunting blood from the body to the lungs with a modified BT shunt. If the VSD is large and too much blood is going to the lungs, however, a band may be placed around the pulmonary artery to decrease blood flow to the lungs.141 The child will remain cyanotic for several years. The next stage of surgical repair is often the Fontan procedure (or a modification thereof), performed through a median sternotomy in which the right atrium is attached to the pulmonary artery or directly to the right ventricle, using a conduit or baffle. The VSD may be surgically closed. In some institutions, a bidirectional Glenn

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procedure performed before the Fontan procedure leads to an improved outcome. In the Glenn procedure the superior vena cava is anastomosed to the right pulmonary artery. The child remains cyanotic but gains time for growth before undergoing the Fontan operation.141

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FIG. 28.9 Tricuspid atresia.

Pulmonary Atresia 2156

Pulmonary atresia occurs when the pulmonary valve fails to develop, resulting in obstruction of blood flow from the right side of the heart to the lungs. Blood flow to the lungs is initially maintained by a PDA. An ASD or a VSD may also be present, allowing shunting of blood from the right to the left side of the heart and ultimately back to the body. The size of the right ventricle may vary, affecting later surgical decisions. Early intervention involves maintaining patency of the ductus arteriosus to increase blood flow to the lungs until surgery can be performed. Surgical repair will vary significantly depending on extent of right ventricle development and other malformations present.83

Truncus Arteriosus Truncus arteriosus occurs when the aorta and the pulmonary artery fail to separate in utero and form a common trunk arising from both ventricles (Fig. 28.10). Four grades of the condition are differentiated, depending on the location of the pulmonary arteries. Early surgical intervention is necessary. Surgical repair is provided through a median sternotomy and involves removing the pulmonary arteries from the truncus, closing the VSD, and connecting the pulmonary arteries to the right ventricle by an extracardiac baffle. Hospital mortality rates range from 4.3% to 17% with most deaths occurring in the most complex forms.24

Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return (TAPVR) occurs when the pulmonary veins fail to communicate with the left atrium and instead connect to the coronary sinus of the right atrium or to one of the systemic veins. The ductus arteriosus often remains patent (Fig. 28.11). The increase in flow through the right side of the heart and into the lungs may lead to congestive heart failure. Anastomosis of the pulmonary veins to the left atrium through a median sternotomy is usually performed as soon as possible. Postoperative ventilation may be difficult because of stiffness and wetness of the lungs from the previous excessive blood flow. Mortality rates continue to improve with early and late mortality for simple TAPVR being 10% and 4%, respectively.164,216 There is one

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reported case of a 48-year-old patient who is 47 years postrepair for total anomalous pulmonary venous return.42

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FIG. 28.10 Truncus arteriosus.

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FIG. 28.11 Total anomalous pulmonary venous return.

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Hypoplastic Left Heart Syndrome Hypoplasia (incomplete development or underdevelopment) or absence of the left ventricle and hypoplasia of the ascending aorta make hypoplastic left heart syndrome (HLHS) the most common form of a univentricular heart, often coexisting with severe aortic valve hypoplasia. A PDA provides systemic circulation until surgical intervention. Without surgical intervention, death is certain. Hospital survival rate (the percentage of children who leave the hospital alive after surgery for HLHS) still lags behind the rate for other congenital heart surgeries, but the surgical survival rate is now 90%.168 Bove reported that the survival rate after second-stage palliation is now 97%, and the survival rate is 81% after the Fontan operation.30 Five-year survival rates are between 69% and 71%, depending on the patient’s anatomy,30 and 10-year survival rates were observed to be at 55%.16 Prenatal diagnosis and care are essential for the parents to prepare for and to be counseled about prognosis and surgical options. They also enable the parents and medical staff to plan for delivery and the immediate postpartum period.16 Tibballs observed that prenatal diagnosis led to termination of pregnancy at a rate of 44% to 71% in Europe and 18% to 45% in the United States.210 It was observed by Mahle and colleagues that prenatal diagnosis was found to possibly decrease postoperative neurologic events when compared with those diagnosed postnatally.128 Three options are available to parents of infants diagnosed as having HLHS. One option is no surgical intervention. As a second option, the child’s name may be placed on a waiting list for a heart transplant; as a third, the child may undergo a series of palliative procedures.36 The initial surgical procedure (Norwood I30) involves enlarging the ASD, transecting the main pulmonary artery and anastomosing it to the aorta, and reconstructing the aortic root. A BT or central shunt is placed to allow pulmonary blood flow. Some centers use a right ventricle (RV)–to–pulmonary artery (PA) conduit as the first stage.16,127,168,193 This procedure may require the second stage to be performed sooner, and the potential long-term consequences of

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cutting into the right ventricle are not known.30 A third technique for the child who is medically fragile is a hybrid technique that combines interventional cardiac catheterization with surgery. This involves an atrial septostomy and placing a pulmonary artery band to restrict pulmonary blood flow and a stent in the arterial duct to hold it open. The child does not need to go on cardiopulmonary bypass.16 Before the second stage the child’s oxygen saturation and activity level may start to decrease. Children may have more difficulty eating, especially with taking a bottle or nursing, which requires more energy. The second stage, generally completed between 4 and 10 months, is a hemi-Fontan or bidirectional Glenn procedure in which the superior vena cava is anastomosed to the pulmonary arteries and the BT shunt is ligated. The Fontan procedure is then performed between 18 and 24 months. This procedure provides continuity between the right atrium and the pulmonary artery, and pulmonary venous return is separated from the systemic system. As a result, the right ventricle pumps fully oxygenated blood to the body.86

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Heart Failure Pediatric heart failure can result from congenital heart defects, dilated cardiomyopathy, cardiomyositis, metabolic disorders, or from eventual failure of previous repairs or palliation.184 The number of children with single-ventricle palliation is increasing with likely future increases in heart failure either as an older adolescent or young adult.46 Management of these patients can be accomplished via pharmaceutical methods, surgical management including placement of mechanical assist devices, and in the worst cases orthotopic heart transplantation. This population tends to have frequent and often lengthy hospitalizations as well as ongoing functional deficits requiring acute and chronic rehabilitation efforts.184 In this section we will present options for management and implications for the pediatric physical therapist.

Inotropic Support Intravenous inotropic support is commonly used for end-stage congestive heart failure in the pediatric population.23 Inotropic agents are drugs that increase or decrease the contractility of the heart during preload and afterload. These drugs include digoxin, dopamine, norepinephrine, epinephrine, isoproterenol, dobutamine, amrinone, and milrinone. Previously, these drugs have often been limited to in-hospital use because of the need for close monitoring and supervision.23 There has been a trend to complete outpatient inotropic support with medications such as milrinone as a bridge to transplantation. Berg and colleagues reported the use of home inotropic support in 14 children with endstage congestive heart failure and found minimal complications as well as substantial cost savings and improved family dynamics.23 Birnbaum and colleagues25 recently reported comparable results with a much larger study including 106 patients being supported at home with milrinone as a bridge to transplant: 85% of patients underwent transplantation, 8% of patients successfully weaned from support as outpatients, whereas 6% died.25 McBride and associates also reported on the safety of a monitored exercise

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program for pediatric heart transplant candidates on multiple inotropic support.143 They found that patients were able to engage in an aerobic and musculoskeletal conditioning program three times per week with no adverse episodes of hypotension or significant complex arrhythmias. Physical therapists need to be aware of the increased use of these medications in the home setting. As noted, studies are showing safety with activity while on inotropic support. Patients, however, still need to be carefully monitored when engaging in therapeutic activities while on inotropic support.

Technological Support Extracorporeal Membrane Oxygenation Extracorporeal membrane oxygenation (ECMO) may be used for cardiovascular and respiratory support in children after open-heart surgery. ECMO consists of an external circuit that moves venous blood through an artificial gas exchanger, which provides blood oxygenation and decarboxylation. ECMO support can be provided either in a veno-venous (VV) or veno-arterial (VA) setup. VV ECMO provides only respiratory support, bypassing the patient’s lungs, while VA ECMO provides both respiratory and circulatory support, bypassing both heart and lungs.195 The ECMO circuit takes over oxygenation and perfusion of the child’s body while the heart and lungs are “rested.” Indications for biventricular support by ECMO in the early postoperative period include progressive hypotension, increased ventricular filling pressures, poor peripheral perfusion, decreased urine output, and decreased mixed venous oxygen saturation.57,107 ECMO is also used as a bridge to surgery or transplant in the severely compromised patient who is too ill to undergo repair immediately. Bautista-Hernandez and associates observed that 62% of their patients survived to discharge from the hospital—patients who probably would not have survived their initial surgery without EMCO first to stabilize them.18 ECMO is capable of providing support for several days to at most a few weeks11 and is associated with severe complications such as cerebral infarction, brain hemorrhage, renal failure, and multiorgan system failure.93 Historically, patients on ECMO must remain intubated

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and sedated and therefore are unable to be mobilized while on support.93 More recently, there is a push for early mobilization of patients on ECMO when medically appropriate. This has been used primarily in cases of VV ECMO and predominantly in settings of respiratory failure only.115,169,212,231 As technology advances, early mobilization of children receiving other forms of ECMO may become possible. Early rehabilitation might improve outcomes. Therapists providing services to children with cardiac conditions in acute and outpatient settings should be aware of a history of ECMO due the high incidence of neurologic impairment and possible impact on developmental and functional outcomes.

Ventricular Assistive Devices As previously noted, young children with the most severe heart failure are most often supported with ECMO.93 An alternate approach uses ventricular assistive devices (VADs). VADs, circulatory pumps that supplement or completely replace the pumping function of one or both ventricles, have been used extensively in the adult population as a bridge to a transplant device or to a recovery device for many years. Their use in the pediatric population, however, has been limited because of limited availability of devices that meet pediatric physiology and cardiac flow needs.11,180,208 Bastardi and colleagues and others have suggested that despite the lack of pediatric-specific devices, VADs are a viable option to be used as a bridge to transplant therapy or in some cases to recovery in the pediatric population.17,35,84,180 In addition, Adachi et al. and Zafar et al. each showed significant decreases in heart transplant wait list mortality since more widespread use of pediatric VADs.2,230 Currently, a limited number of VADs are available for use in the pediatric population, especially in the infant and young pediatric population. The primary device used in the United States for this population is the Berlin Heart Excor (Berlin Heart AG, Berlin, Germany). This pneumatically driven, pulsatile VAD may be used as a left ventricular assistive device (LVAD) or as a biventricular assistive device (BiVAD). The Berlin Heart Excor supports a variety of blood pumps capable of delivering stroke volumes from 10 to 80 ml, making it suitable for use in children as small as 3 kg through

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full-size adults.84,136,147,180,208 The Berlin Heart Excor is the only pediatric-specific device approved for use by the Food and Drug Administration (FDA). Morales and associates151 have reported their experience with use of the Berlin Heart Excor in a multicenter North American experience. Between June of 2000 and May of 2007, 73 patients underwent implantation at 17 different institutions with the Berlin Heart Excor system. Fifty-one patients (70%) were successfully bridged to transplant, five patients (7%) were bridged to recovery, and 17 patients (23%) died.151 Rockett and associates also reported their experience with the Berlin Heart Excor. Between April of 2005 and May of 2008, 17 patients underwent implantation with the Berlin Heart Excor System. Eleven of those patients went on to transplant, two patients underwent explantation due to recovery, three died while on support, and one patient remained on support at the time of publication of the study.180 Malarisrie and colleagues reported similar findings with eight patients with the Berlin Heart Excor implanted.134 Five patients survived until transplant, and three died while on support. Of note, in both reports a high incidence of neurologic complications was noted, with seven of 11 patients reported by Rockett180 and five of eight patients reported by Malarisrie.134 Despite the high level of neurologic complications in both studies, many children survived to transplant who would likely have died otherwise without use of a VAD system. In addition to the Berlin Heart Excor there has been a recent increased use of VADs originally designed for use in adults in the older pediatric population. Most of these are continuous flow devices allowing smaller size and easier implantation. The HeartWare HVAD (HeartWare, Inc, Framingham, MA) has been implanted successfully in individuals with a body Surface Area (BSA) of > 0.7 m2.125,147 The HeartMate II (Thoratec Corp, Pleasanton, CA) has been successfully implanted in patients with a BSA of > 1.2 m2.125,148 Both devices have increased portability with the ability to discharge home as compared to the Berlin Heart Excor, which to date has not been amenable to discharge home. Use of a VAD or other mechanical support system offers additional benefits as well. Most notably for physical therapists is the ability to mobilize and engage in aggressive physical therapy

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soon after implantation of a VAD in children of all ages.178,180 Experience at multiple centers has shown the benefits and safety of mobilizing patients after VAD implantation.63,91,178,180,163,198,203 During the immediate postoperative period, while patients remain intubated, the focus of physical therapy is positioning and prevention of contractures. After extubation, progression will depend on the age and medical status of the patient. An important consideration is providing families education and support for handling and positioning their infants and toddlers for caregiving and development.91,178 Many times, families are very hesitant to handle and care for their children after implantation of a VAD. Through education and support, parents and other family members gain comfort with handling and transferring the child as medically appropriate. All care needs to be provided in coordination with the medical and nursing team. As the infant or toddler becomes more stable, it is essential to provide as much of a normalized routine as possible, incorporating physical therapy, occupational therapy, speech therapy, and school and activity staff as appropriate. Consideration must be given to device limitations, but, as able, children should be progressed through activities to facilitate achievement of developmental milestones. Each different device will present its own unique challenges, and collaboration and training among team members of all disciplines are required to provide the most comprehensive and appropriate care.63,91,178 For the older child and adolescent, many of the same considerations as noted for the infant and the toddler apply. A team approach should be implemented to normalize the daily schedule as much as possible. Physical therapy should focus on increasing the child’s independence with activities of daily living (ADLs), transfers, and mobility in early therapy sessions, with progression to higher-level functional activities and strengthening and endurance activities as the child’s condition allows. The goal is to have the child at peak conditioning and level of fitness at the time of transplantation. It is also important to discuss device safety and limitations as appropriate.91,178,203 If possible, children should be provided opportunities for physical activity and socialization off of the medical unit with appropriately trained staff and family.

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Continuous flow devices have enabled children return to school, community, and home settings.163,198 Pediatric physical therapists in a variety of settings have a role in promoting and monitoring physical activity of children with VADs. Children with a VAD have a high rate of neurologic complications.17,35 The physical therapist may be the first member of the team to observe signs and symptoms of neurologic impairment, such as onset of muscle weakness, changes in level of arousal, balance impairments, and changes in speech. These “red flags” should be immediately shared with the medical team and addressed in treatment. Children have demonstrated significant functional recovery after neurologic complications, and their ability to participate in therapy plays a large role in that recovery.180 Because of the integral role that mechanical assistive devices have as a bridge to transplant in children, a focus of research is to create devices that can be used by children at various stages of development.11,208 Pediatric therapists are likely to see increased numbers of children with a mechanical assistive device. Comprehensive rehabilitation programs and therapy management plans will be integral to participation of children with mechanical assistive devices in home, school, and community activities.

Heart Transplantation Cardiac transplantation is a viable option for children with endstage heart failure secondary to congenital malformations or for children with cardiomyopathy. Advances in surgical technique, immunosuppressive medications, and treatment for rejection have increased the median survival posttransplant to 20.6 years for infant transplant recipients, 17.3 years for children transplanted between the ages of 1 and 5 years, 14.6 years for children transplanted between the ages of 6 and 10 years, and 12.9 years for adolescents.51,209 In the past, the indication for transplantation in children was largely cardiomyopathy (62%). In recent years the number of transplants for congenital heart defects has surpassed that of cardiomyopathy. In infants, 55% of transplants are completed due to congenital heart disease while cardiomyopathy accounts for 41%.

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In other age groups percentages are similar with approximately 66% and 23% of the 11- to 17-year-old, 59% and 32% of the 6- to 10year-old, and 54% and 40% of the 1- to 5-year old recipients having had transplant for cardiomyopathy and congenital heart disease, respectively.51 Lamour and colleagues conducted a review of the impact of age, diagnosis, and previous surgery on children undergoing heart transplantation, using data from the Pediatric Heart Transplantation Study and the Cardiac Transplant Research Database.112 They found that morbidity was higher post–heart transplant in patients with CHD (86%) than in those with cardiomyopathy (94%). The 5-year survival rate was approximately 80% among children who received heart transplants between 1990 and 2002. Other variables related to increased morbidity included long ischemic times, history of Fontan pretransplant, and older recipient age. The mortality rate was less for those undergoing a cardiac transplantation after a Glenn procedure than after a Fontan.97 Griffiths evaluated patients with failing Fontan physiology and their response to heart transplantation.77 They found that patients who were transplanted because of impaired ventricular function had a lower mortality rate than those with preserved ventricular function but with secondary problems such as protein-losing enteropathy, plastic bronchitis, ascites, and edema. Overall, more than 50% of patients who underwent heart transplantation as a teenager were still alive 15 years later. This number is even higher for those who received heart transplantation as infants.104 Surgery is performed through a median sternotomy and involves removal of the recipient heart with residual atrial cuffs remaining. The atria are reanastomosed with the donor heart, and then the great arteries are connected.185 Severing of the vagus nerve and the cervical and thoracic sympathetic cardiac nerves leaves the heart denervated.160 The heart has an intrinsic control system, so it is not dependent on innervation for function. Cardiac impulse formation occurs because of spontaneous depolarization of the sinoatrial node. This results in a higher than normal resting heart rate and a decreased heart rate response.160 Primary control of increased heart rate with exercise occurs due

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to catecholamine release from the adrenal gland. Hormonal release takes several minutes to have an effect on heart rate and contractility. As a result, during the acute phase of rehabilitation it is generally advised that children perform several minutes of warm-up exercises before vigorous exercise. It also takes several minutes for the body to reduce the hormones to normal levels, so a cool-down period at the end of exercise is also advised. The resting heart rate is higher than usual in transplant recipients, and the peak heart rate is lower; both should be taken into account when transplant patients are exercising.160 There is an ongoing debate on the most effective rehabilitation approach for children following heart transplantation. With evidence suggesting some level of reinervation,160 some have suggested higher levels of exercise and possible interval training may be possible. The potential benefit of moderate or higher intensity exercise is unclear, and further research is needed.160 Antirejection treatment begins with triple drug immunosuppression with corticosteroids, a calcineurin inhibitor (e.g., cyclosporine or tacrolimus), and an antiproliferative agent (e.g., azathioprine or mycophenolate mofetil).185 All serve to combat rejection of the donor heart. Rejection is an immune response to the donor heart. The resulting inflammation occurs through T-cell and humoral immune mechanism. Failure to control the inflammation can result in necrosis of the cardiac tissue and death. Rejection is the number one cause of death posttransplant.4 Transplant recipients are often weaned from the use of steroids as soon as possible to minimize the detrimental effects of long-term steroid use.4 Antirejection medicines can lead to bone loss, photosensitivity, thickening of the gums, muscle and bone weakness, headaches, increased potassium levels, nausea, and increased cholesterol levels. Rejection is a concern for all children who receive heart transplantation. Signs and symptoms of rejection include: fever, malaise, poor appetite, weight gain, tachycardia, tachypnea, low urine output, complete heart block, pulmonary edema, and shock.4,150 Symptoms associated with severe rejection have been observed in several adolescent transplant recipients after missing just one dose of immunosuppressive medicine.

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Several complications from heart transplantation are common in children. Hypertension immediately posttransplant occurs frequently, and the cause may be multifactorial including persistent elevation in systemic vascular resistance, use of oversized donor organs, and corticosteroid treatment.150 Other early posttransplant complications include impaired renal function due to nephrotoxic qualities of many of the immunosuppressive medications, infection due to immunosuppression, and severe muscular deconditioning due to pretransplant medical status.150 Long-term complications include continued rejection with symptoms of weakness, fatigue, malaise, fever, and flulike symptoms. We have used the dyspnea index previously described to help patients know there may be a change in their cardiac status and they should call their cardiologists. A patient who has received heart transplantation can exercise and achieve normal endurance with a baseline dyspnea index of 1 breath to count out loud to 15. If he or she suddenly requires 2 breaths or more to count out loud to 15 he or she should contact his or her cardiologist. Other complications that can occur are: coronary allograft vasculopathy, chronic infections, continued renal dysfunction, hypertension, hyperlipemia, and development of posttransplant lymphoproliferative disease (PTLD). PTLD can present as a wide range of malignancies from benign tonsillar hyperplasia to life-threatening monoclonal lymphoma.4,150 Therapists working with children with heart transplantation need to be aware of these potential complications as well as their signs and symptoms. Often therapists are the first to notice symptoms and bring this to the attention of the medical team. As more children survive successful initial cardiac transplant, the potential need for retransplantation increases. Availability of donors, longterm survival, and functional outcomes are factors that continue to be investigated.

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Foreground Information Management Following Cardiac Surgery Most acute impairments after thoracic surgical procedures occur in the immediate or early postoperative period. Physical therapists play an important role in minimizing and helping to address these impairments. In this section management of pulmonary complications, pain, sedation, decreased mobility, and initiation of developmental care will be described. Considerations for physical therapy management following cardiac surgery are summarized in Box 28.1.

Pulmonary Management One of the primary areas to be addressed after heart repair is the pulmonary status of the patient. Mechanical ventilation is common after open-heart surgery in the pediatric patient. Recent improvements in cardiopulmonary bypass, decreased operating time, and improved postoperative fluid management have allowed early extubation, often immediately after or within 4–6 hours of surgery.206 This has led to decreased costs, early patient mobility, and fewer respiratory complications. Following extubation, some patients are transitioned to noninvasive ventilation such as CPAP and BiPAP. Noninvasive ventilation has been shown to improve gas exchange, reduce work of breathing, and help to avoid intubation in children. It can be provided via a variety of interfaces including nasal prongs, nasal mask, or nasal mask, full facial mask, or helmet. As well current noninvasive ventilators provide a wide range of settings.206 In addition to CPAP and BiPAP, a nasal cannula may be used to deliver heated humidified high-flow nasal oxygen. High-flow oxygen delivery provides continuous positive airway pressure.206 Inhaled nitric oxide can also be used with patients who have pulmonary hypertension postoperatively.

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B O X 2 8 . 1 Considerations

for Physical

Therapist Management of Children with Congenital Cardiac Conditions Postsurgical Management Positioning and respiratory techniques (e.g., percussion, vibration, assisted cough) to mobilize secretions and increase aeration Early mobilization including range of motion exercises and walking Screening for neurologic impairments Supporting the family to interact and care for their child Facilitating age-appropriate activities and developmental play

Infancy and Early Childhood Screening for and monitoring neurologic impairments Screening and intervention for developmental and sensorimotor delays Facilitating mutually enjoyable parent–child interactions Assessing and educating on feeding difficulties and providing support as necessary Encouraging the family to allow their child to self-limit activity and play, rather than parent-limited activity and play Providing the family information to help them anticipate how the child’s cardiac condition might influence development (e.g., crawling is often limited in infants with a cyanotic defect)

Childhood and Adolescence Screening for and monitoring neurologic impairments Assessing endurance as well as visual-perceptual, visual-motor, motor planning, and fine motor skills and adapting recommendations for physical activity including instruction and education as necessary Establishing an exercise program to improve the child’s endurance, strength, self-esteem, and to decrease parental anxiety Supporting the child to engage in regular exercise including participation in desired recreational activities and addressing

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parental concerns Although physical therapist intervention varies with the age of the child, the primary goals are to mobilize secretions, increase aeration, and increase general mobility (Fig. 28.12). The child’s position should be changed regularly to assist with effective ventilation and oxygenation. The full upright position is considered most beneficial and should be achieved as soon as possible. The supine position has been shown to cause diminished alveolar volume, functional residual capacity (FRC), and lung compliance; it thus interferes with the distribution of ventilation, respiratory muscle efficiency, and gas exchange; and promotes airway closure. Sidelying has been observed to be a better position than supine for improving oxygenation. In adults, oxygenation improved when the “good” lung was in the dependent position.222 In children, however, the opposite was observed: namely, gas exchange improved with the good lung uppermost.222 Sidelying with the best lung dependent may improve ventilation and perfusion matching but should be closely monitored for signs of distress or improvement.222 Prone position has been associated with an improved ventilation and decreased work of breathing.222 Positioning in prone may be beneficial in preventing respiratory difficulty in a child who is extubated. Mucous transport is slowed after surgery, which can lead to atelectasis. Atelectasis also occurs secondary to an altered breathing pattern, prolonged positioning in supine, and possible diaphragmatic dysfunction in the early postoperative period.222 Incentive spirometry is an effective tool for reducing the occurrence of atelectasis in the pediatric population. The primary emphasis with incentive spirometry or any other respiratory intervention should be prolonged slow inspiration to facilitate end-expiratory lung volume helping to decrease atelectasis.206 Bubble blowing or blowing on a windmill can be used with young children (Fig. 28.13).206 When performing these activities, children often take in a large inspiration before exhaling. Other respiratory techniques such as percussion and postural drainage, vibration, segmental expansion, and assisted cough techniques (Fig. 28.14) can be performed to mobilize secretions and increase aeration.222

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Segmental lung expansion techniques may be performed to reduce postoperative complications and are used to preferentially augment localized lung expansion. The goals are to increase and redistribute ventilation, improve gas exchange, aid in reexpansion of air spaces, mobilize the thoracic cage, and increase the strength, endurance, and efficiency of the respiratory muscles.222

FIG. 28.12 Two examples of children 24 hours after

open-heart surgery.

Lung expansion techniques are performed by placing a hand over a particular segment and allowing it to move with the ventilator or respiratory cycle. Gentle pressure may be applied to the chest wall during exhalation at the end of the expiratory phase, just before the inspiratory phase. This facilitates airflow to the specific segment. When a specific lobe or segment has decreased aeration, this technique, used in conjunction with gentle sustained pressure on the opposite upper lobe, may increase aeration to the affected area.222 This technique is particularly effective when the child is upset or does not tolerate percussion or other treatment

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techniques. It may decrease the respiratory rate and is especially useful with infants who cannot respond to the therapist’s verbal cues for relaxation. We have used this technique with lung transplant recipients who are unable to cooperate or follow commands for deep breathing and coughing and found it effective in decreasing atelectasis and increasing oxygen saturation. Segmental expansion techniques performed before other respiratory techniques also may be beneficial.

FIG. 28.13 Child blowing bubbles 24 hours after open-

heart surgery.

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FIG. 28.14 Child receiving percussion after open-heart

surgery.

Percussion may need to be performed to assist in removal of excess secretions. Percussion is defined as rhythmic clapping with cupped hands over the involved lung segment performed throughout the respiratory cycle, with the goal of mechanically dislodging pulmonary secretions.222 Vibration also assists in mobilization of secretions. It is performed by creating a fine oscillating movement of the hand on the chest wall just before expiration and continuing until the beginning of inspiration.222 Both percussion and vibration techniques can be performed in conjunction with postural drainage. Optimal positions are described by Crane and are pictured in Frownfelter’s text on chest physical therapy.43 Positioning must be used with caution in the postoperative period. For example, the Trendelenburg position is often contraindicated after open-heart surgery. It is important to confirm with the nurse or the physician whether it is even suitable for the child to be flat in bed. Despite limitations, percussion and vibration can be performed in the positions available. It has been the authors’ experience that children respond well to both percussion and vibration, even on the first postoperative day.

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Encouraging the child to tell you if the treatment hurts—because it should not be painful—often facilitates cooperation. It may also be helpful to coordinate the treatment with administration of pain medications. Percussion may be contraindicated when platelets are low, pulmonary artery pressures are too high, or the child becomes too agitated with treatment. Vibration can generally be safely used instead. Blood pressure and intracardiac pressures should be closely monitored throughout treatment because they are indicators of intolerance to treatment. The physician usually establishes parameters, set on an individual basis. Massery described a counter rotation technique for altering respiratory rate in the neurologically impaired patient that has been safely used in children after open-heart surgery through a median sternotomy only.222 The counter rotation technique has been used by the authors to slow the respiratory rate and increase expansion of the lateral segment. It generally relaxes children and increases their tidal volume. When the technique is used postoperatively following cardiac surgery, the therapist must take extreme caution to avoid disturbing chest tubes and other intravenous lines. This treatment is recommended only after intracardiac lines have been removed. The sternal incision has not been a problem: because it is stable, it does not undergo any mobilization during application of this technique. The counter rotation technique is performed with the child in sidelying and the therapist standing behind, near the child’s buttocks. One hand is placed on the anterior iliac spine and the other hand is placed on the child’s posterior shoulder. On inspiration the hand on the buttocks pulls down and posteriorly, while the hand on the shoulder gently pushes up and anteriorly. On expiration the therapist’s hands and the child’s body return to neutral. This is repeated several times in cycle with the child’s breathing. It should be very relaxing and comfortable for the child. The techniques described not only facilitate increased lung expansion but also mobilize secretions. Once mobilized, secretions act as an irritant in the airway when the child takes a deep breath, and a spontaneous cough usually occurs.222 The child may require assistance to remove excess secretions, owing to lack of cooperation or to inability to cooperate secondary to age. This may be accomplished by coughing or airway suctioning.

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TABLE 28.2 FLACC Scale

Pain and Sedation Management Pain management and level of sedation are extremely important for mobilization of children following cardiac surgery. Most institutions that perform cardiac surgery on children have pain management teams that assist the surgical team in monitoring and managing the child’s postoperative pain because uncontrolled pain can be detrimental to the child’s recovery. Monitoring and assessment of pain and level of sedation are critical components to an effective pain and sedation management regimen. The FLACC scale is often used to determine if the child is in pain (Table 28.2). Opioids such as morphine and fentanyl are the primary medications employed for effective analgesia or pain relief. As with most medications they carry adverse side effects including respiratory depression and nausea and vomiting that must be monitored and balanced with appropriate pain relief.175 In addition to pain relief, sedation management must also be considered. Sedation is often required to increase compliance and tolerance of treatment. In addition, it may be required to allow effective ventilation or support of cardiac function. Goals for sedation goals vary from mild calming to near anesthesia.175 Several medications are used to achieve sedation; the two most common are dexmedetomidine and midazolam. Both medications provide appropriate levels of sedation without respiratory depression, though midazolam is not as well tolerated in the cardiac population.175 Other techniques used to manage postoperative pain include regional anesthetic techniques and patient-controlled

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analgesia.175

Early Mobilization Early mobilization and ambulation after surgery reduce both pulmonary and circulatory complications as well as demonstrate increases in functional outcomes and quality of life.90,101,226 Early mobilization and physical therapy involvement in the adult ICU setting have been shown to have beneficial effects on muscle strength, physical function, health-related quality of life, ventilatorfree days, and lengths of stay in the ICU and hospital.101 Studies in the pediatric population are more limited but have shown similar results.91,226 Postoperative immobility can lead to a variety of problems, including reduced ventilation and perfusion distribution, shallow breathing, fever, retention of secretions, fluid shifts, decreased muscle strength, and generalized discomfort from immobility.219,222 The following section reviews the importance of early mobilization and positioning and how to safely initiate both.

FIG. 28.15 A child walking 1 day after open-heart

surgery.

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Range-of-motion (ROM) exercises should begin as soon as possible. Initially it may not be possible to attain full ROM because of discomfort or intravenous or arterial lines, but movement helps to mobilize the patient. ROM exercises are extremely important for the child with a thoracotomy incision because the incision tends to produce more guarding than is produced by a median sternotomy. Passive to active-assisted shoulder ROM to 90 degrees of flexion is usually tolerable. Discomfort often occurs when the arm is returned to a neutral position. The therapist may apply gentle resistance to the arm as the child attempts to return the arm to a neutral position because contraction of the arm muscles tends to minimize discomfort. At our center, children are mobilized including ambulation as soon as atrial lines and groin lines are removed. Intubation with mechanical ventilation is not considered a reason not to initiate physical therapy intervention, though it may limit mobility. Children often ambulate for the first time with any or all of the following: central venous pressure line, peripheral intravenous line, arterial line, chest tubes, temporary pacemakers, and oxygen (Fig. 28.15). The first walk is often only for 5 to 10 feet and may be difficult for the child. Anxiety often plays as big role in the perceived difficulty as does the discomfort. It may be beneficial for the child to receive pain medication before the first walk. Children are often anxious, so the benefits of early ambulation should be explained to them with emphasis on the problems that can occur by remaining in bed. TABLE 28.3 Potential Limitations in Early Motor Development in Children With Congenital Heart Conditions

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Potential Effects of Cardiac Surgery on Early Motor Development The potential effects of cardiac surgery on early motor development are summarized in Table 28.3. The infant who undergoes surgery within the first few days after birth experiences immediate disruption of all aspects of typical newborn life. The infant is often sedated, restrained, and intubated, all of which interfere with being held, bundled, and fed. The physical therapist provides the family information about sensory-motor activities the infant is unable to experience and instruction in ways to compensate for this deprivation. Encouraging parents, as well as nursing staff, to hold their child as soon as possible is recommended. Holding the infant prone on the parent’s chest is beneficial to early development and bonding. The fact that their child is born with a congenital anomaly may impede the attachment process.123 The therapist promotes parent-infant interaction by providing parents suggestions for engaging and calming their baby as well as positioning to minimize postoperative complications. We encourage therapists to involve parents in treatment as soon as possible. Toddlers who have cardiac surgery often recover very quickly with little impairment. Anxiety over being left alone during the hospitalization may be the biggest problem interfering with function in this age group.123 The child may feel abandoned and may react by becoming passive and apathetic or, conversely, by becoming aggressive. These behaviors are more commonly

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observed in the child who is in the hospital for the first time, such as the child with an ASD. Toddlers are often limited more by restrictions imposed by their parents than by their own physical limitations.40,123 Activity guidelines should be reviewed with parents on an ongoing basis; showing them by example may be even more helpful. Although it is beneficial to explain to the parents ahead of time what their child will experience, it may be helpful to wait to tell the toddler what is happening as it is happening. Connolly and colleagues evaluated children who underwent cardiac surgery at 5 to 12 years of age both preoperatively and postoperatively for posttraumatic stress disorder (PTSD) symptoms.41 They found PTSD symptoms in 23% of the children, and 12% met criteria for PTSD. They also observed an increased number of symptoms correlated with an intensive care unit stay longer than 48 hours. The therapist can add “fun” to the postoperative activities to make it less threatening and ultimately more beneficial. Adolescents who have cardiac surgery may need to be encouraged to move and may need to be assisted to become active. The parents are often more reluctant than the adolescent about early mobilization, including ambulation. They should be reassured that it is beneficial for their child to move as soon as possible. Adolescents may choose to assert their independence and try to do everything for themselves, or they may choose to become totally dependent on their parents and hospital staff. Whichever situation occurs, young people benefit from early education about how to move and what they should be doing. This helps them to realize what is expected of them. They should be informed of what they need to do and should not be given a choice when the task is not optional.215

Medical Complications Several medical complications can affect postoperative function. Secondary to phrenic nerve palsy, some children may have a paralyzed diaphragm after surgery that affects their early postoperative course, as well as their long-term respiratory status and endurance.206 Infants have horizontal ribs and lack the normal bucket handle movement, relying primarily on use of the

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diaphragm for respiration. Paralysis of the diaphragm by unilateral or bilateral phrenic nerve palsy can cause further respiratory problems, including difficulty in weaning from the ventilator.206 Noninvasive positive-pressure ventilation has been successfully used for bilateral diaphragm paralysis until diaphragm function has returned.109 In a study by Ross Russell and associates, phrenic nerve palsy was observed in as many as 20% of infants who underwent cardiac surgery, mechanical ventilation was at least an average of 72 hours in this group, and the risk of death before discharge from the hospital was greater than 10%.188 The incidence was greater for those younger than 18 months of age, but two thirds of those with phrenic nerve palsy had fully recovered by 3 months postoperatively. Prolonged mechanical ventilation is required for some children, especially infants, after surgery for congenital heart defects. Mechanical ventilation has been associated with nosocomial pneumonia, higher surgical risk, increased postoperative fluid, and low cardiac output.201 Instances of children requiring a tracheostomy and/or gastrostomy after congenital heart surgery have been reported. Performing these procedures sooner may allow for earlier discharge from the hospital. The incidence of tracheostomy after surgery is fairly low at 1% or less,186 but Kelleher and colleagues reported that 28% of their patients undergoing a Norwood operation required nasogastric tubes for feeding or placement of a gastrostomy tube at discharge from the hospital.102 Guillemaud and associates found that at least 3% of all children with cardiac defects who underwent surgery had some type of airway problem, the most common being vocal cord paralysis.79 This should be taken into account when an infant is having difficulty coming off the ventilator or when treating an infant with difficulty with oral feedings.

Neurologic Implications and Complications Postoperative neurologic impairments were long thought to be largely due to prolonged surgical time, usually related to length of hypothermic arrest, low cardiac output, or arrhythmias after surgery.58,224 Research on infants with congenital heart defects, however, has indicated that preoperatively brain maturation is

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delayed,118 cerebral blood flow is diminished,119 brain volumes are smaller,121 and there is some incidence of mild ischemic lesions associated with periventricular leukomalacia.119,130 Miller, et al.149 observed that newborns with CHD had widespread brain abnormalities before cardiac surgery. Lynch et al.126 studied neonates with HLHS and observed that earlier Norwood palliation may decrease acquired white matter injury. Neurodevelopment has also been noted to be affected postoperatively in children with repaired congenital heart defects possibly for several reasons, including how a child is rewarmed after surgery,191 genetic factors,68,232 seizures,66 type of circulatory arrest,20 and length of stay after surgery.157 Seizures during the initial postoperative period are associated with a significant increase in abnormal neuromuscular findings. The mean Mental Developmental Index score on the Bayley Scales of Infant Development II was significantly lower for children with frontal lobe seizures compared to children with seizures in other areas of the brain.66 Hemodynamic instability and coagulation disturbances are risk factors for postoperative neurologic problems in infants as well. Thirty-five percent of premature infants weighing less than 2 kg who had open-heart surgery developed neurologic complications.187 Neurologic consequences may be the result of an air embolus, a prolonged hypotensive period,215 or complications of long-term cyanosis5 as well as cerebral hypoxic-ischemic conditions.87 Cerebral development may be deterred due to aortic-to-pulmonary collaterals that may develop in single-ventricle children and that can result in cerebral blood flow diminishing.59 Choreoathetosis has been observed in some children after they have been on cardiopulmonary bypass. When a basal ganglia lesion is also seen, the prognosis is poor.89 It is encouraging to note that of almost 700 children who underwent a Fontan operation, fewer than 3% had a stroke.54 In an attempt to reduce the risk of neurologic injury during surgery, some centers are using continuous regional cerebral perfusion, especially during aortic arch reconstruction.30 Many centers are using near-infrared spectroscopy to monitor cerebral oxygenation in the perioperative period, but in a review of the literature on this topic, Hirsch and colleagues found little

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substantial evidence to support that the use of perioperative nearinfrared spectroscopy has an impact on neurologic outcomes.85 Multiple cardiac surgeries, longer hospital stays, poorer linear growth, and tube feeding were associated with worse neurologic outcomes in 131 children with CHD but without a known genetic defect.153 Low regional cerebral oxygen saturation in the first 48 hours after the Norwood procedure was significantly correlated with an adverse outcome.166 Physical therapists are encouraged to seek opportunities to be involved in research to determine forms of cardiac monitoring that are associated with favorable postoperative neurologic outcomes. The child who has sustained a neurologic insult requires both early intervention and physical therapy following hospital discharge. A child with severe extensor tone may benefit from inhibitive casts on the lower extremities and hand splints to decrease the effects of increased tone and to maintain ROM. Parent education concerning the impact of a neurologic insult, including information on handling and positioning the child with increased muscle tone, appropriate stimulation, use of adaptive equipment, and long-term follow-up, should begin as soon as the diagnosis is confirmed. Box 28.2 summarizes characteristics of children with congenital cardiac conditions who are at highest risk for neurodevelopmental impairment

B O X 2 8 . 2 Children

at Highest Risk for

Neurodevelopmental Impairments 1. Neonates or infants requiring open-heart surgery 2. Children with other cyanotic heart lesion not requiring infant heart surgery 3. Congenital heart disease combined with any of the following: a. Prematurity < 37 weeks b. Developmental delay c. Suspected genetic abnormality or syndrome associated with developmental delay d. History of mechanical support (ECMO or VAD) e. Heart transplantation

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f. CPR g. Hospital stay > 2 weeks after surgery h. Perioperative seizures i. Abnormal findings on brain imaging or small head circumference From Marino, BS, Lipkin PH, Newburger JW, et al.: Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation 126(9):1143-1172, 2012.

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Management of Children with Chronic Activity Limitations Chronic Disabilities and Activity Limitations Various disabilities and activity limitations occur as a result of primary impairments incurred by children with congenital heart defects (see Table 28.1). Considerations for physical therapy management are summarized in Box 28.1. The disabling process may start very early secondary to poor attachment between parent and infant.75 Infants who had cardiac surgery showed less positive affect and engagement than typical babies, making it even more stressful for mothers who are already distressed.65 Poor attachment can lead to poor social development. The overprotection and excessive activity restrictions imposed by some parents may compound activity limitations. Parents have shared that they were afraid to permit physical activity in their child with CHD.78 An important role of the physical therapist is to provide the family guidance in identifying physical activities that the child enjoys and has the physiologic capacity to safely perform. Maternal perceptions of their children’s disease severity were a stronger predictor of emotional adjustment than was disease severity.49 Emotional maladjustment may contribute to the poor self-esteem that is often noted in children with congenital heart defects. Limitations resulting from decreased activity, delayed development, poor self-esteem, overprotection by parents, and physical illness may lead to poor peer interactions and social participation. Concerns should be shared with parents and the child as early as possible to limit the potential effects on development.

Infancy Recent research has been important in establishing the preoperative status of the brain, its development, and subsequent neurologic impairment in the infant with a congenital heart defect. Licht and associates assessed infants preoperatively with hypoplastic left

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heart syndrome and transposition of the great arteries.118 Infants were found to have head circumferences that were smaller by a whole standard deviation, as well as brain development that lagged a full month behind their gestational age, thus indicating that in utero brain development is affected by the cardiac defect. This group of researchers also found that preoperative cerebral blood is diminished, which was sometimes associated with periventricular leukomalacia.119 Thus children with congenital heart defects start off at a disadvantage neurologically and developmentally. Infants with dextro-transposition of the great arteries who underwent a preoperative balloon atrial septostomy had an increased rate of embolic stroke compared with those who did not undergo balloon atrial septostomy.113,157 Surveillance for this risk should be conducted when these infants are seen in the immediate postoperative period, or even later. In children with CHD, several other contributing factors can lead to impairment and activity limitations in infancy. Common problems include poor feeding, poor growth, and developmental lag.153 Owen et al.162 found that infants with CHD showed poor behavioral state regulation leading them to become easily overwhelmed. This can add to parental anxiety. Parents must constantly watch for signs and symptoms of congestive heart failure in their infant at rest and while feeding. These signs include the onset of rapid breathing, changes in behavior, edema, excessive sweating, fatigue, vomiting, and poor feeding.40 Parental frustration and stress can affect early attachment to the infant. It has been observed during the first year of life that securely attached infants showed greater improvements in health than did insecurely attached infants.74 Gardner and associates observed infants with cardiac defects to be consistently less engaging with their mothers when compared with infants without defects.65,67 When compared with healthy infants and infants with cystic fibrosis, infants with CHD were the least attached to their mothers, and their parents were the most stressed.75 Normal attachment may be difficult, particularly with the very sick infant who is frequently hospitalized. The health care team should begin working with the parents as early as possible on how they can interact with their infant to facilitate attachment and avoid overstimulating their

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infant. Positive gains were noted in feeding practices, parental anxiety, and worry as well as infant mental state when interventions were done to bolster mother–infant interaction, therapy, and parent skills training with infants with severe CHD and their mothers.145 It is not uncommon for infants with CHD to be poor feeders, which further increases parental stress. Infants with corrected cyanotic heart defects had a significantly delayed first feed when compared with those infants who had undergone correction for an acyanotic defect. They also had a longer duration from first feed to discharge.94 The delay in being able to feed their infant followed by possible difficulty with feeding may add stress to the parents. Many of the major centers that perform surgical repair for complex cardiac defects treat children from all over the world. It is important to be aware of the family’s diet and foods that are available in their country, the size of the child’s parents, and the issues surrounding the surgery when a child’s nutritional state is evaluated. Vaidyanathan and colleagues studied the nutritional status of children in South India after surgical repair for congenital heart defects and found that persistent malnutrition was predicted by birth weight and initial nutritional status as well as by parental anthropometry.214 Infants expend most of their energy during eating. In normal infants, decreased ventilation is observed during feeding, creating a decrease in the partial pressure of oxygen and an increase in the partial pressure of carbon dioxide.137,138 This decrease in ventilation may seriously compromise the child with CHD and is compounded by the increase in metabolic rate. Not only does the child not eat well, but he or she also requires more calories to thrive.71 When studying infants with CHD after surgery, Nydegger and colleagues found that an increased resting energy expenditure before surgery persisted in infants repaired after 10 days of life; by 6 months of age, it was comparable to that in infants without CHD.159 Abnormalities in mesenteric perfusion are documented in several studies, with mesenteric hypoperfusion noted after the Norwood operation.47,82 This may lead to feeding intolerance in addition to difficulty in getting enough calories into the child’s body. Watching their child failing to thrive can be devastating to

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parents and increase their anxiety about feeding their child and trying to encourage adequate caloric intake.71 The prolonged time the child needs to feed can be frustrating to parents and make them feel inadequate.32,123 Dysphagia has been observed in 24% of infants with CHD who were studied postoperatively with 63% of those infants exhibiting aspiration on a videofluoroscopic swallow study.228 If alternative feeding methods are used, such as nasogastric or gastrostomy tube feedings, parents should be educated not only on how to administer the feeding but also on how to hold and nurture their child during the feeding.123 It may be helpful to tell parents that providing time for nonstressful interaction may improve the parent-infant attachment and ultimately may improve the health of their infant. It is helpful to inform parents that the overall time that supplemental feedings are necessary varies with each child. Some parents have stated that they were able to remove supplemental feedings within 1 week of leaving the hospital; others have stated that it took months for their child to take enough by mouth to be able to discontinue supplemental feedings. Many parents have stated to these authors that their infant ate better at home, where it was possible to eat on demand and to have a more routine day. Physical therapy assessment is sometimes indicated to observe the infant feeding and parental interaction. Other problems unrelated to poor endurance may be exhibited by the infant with CHD. If oral-motor dysfunction exists, it should be addressed with parents as soon as possible. Some parents need assistance in how best to handle and support their child during feeding. It can be beneficial for parents to observe that their child does not feed well for anyone. Poor growth is closely associated with poor feeding. It has been observed that infants with cyanotic heart disease have poor growth in height and weight, whereas infants with acyanotic heart disease, specifically those with a large left-to-right shunt, are severely underweight secondary to the marked increase in metabolism.71 Growth improves after surgery, but the child may not achieve typical parameters. This lack of catch-up growth is especially remarkable in children with cyanotic defects with a right-to-left shunt.71,183 Poor growth in height was associated with worse

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neurodevelopmental outcomes in infants with single ventricles.174 Functional and activity limitations, especially delayed achievement of basic motor skills, can be observed in the infant with cardiac disease. Schultz and associates assessed the development of infants with CHD who had undergone repair before 6 months of age and compared them with their twin siblings without CHD.197 They found that infants with CHD had lower scores on the Psychomotor Developmental Index of the Bayley Scales of Infant Development II compared with the Mental Developmental Index and both indices were lower than those of their siblings without CHD. Infants with a univentricular heart were evaluated using the Alberta Infant Motor Scale and scored significantly lower than healthy infants especially in the prone and standing subscales; the infants with hypoplastic left heart syndrome were delayed in all subsets.171 Many of the infants did not walk until almost 18 months. This is not that surprising considering most of these infants spent several months of their life in an ICU and experienced some level of hypoxia during this developing period. Decreased nutrition and cardiac function may leave the infant too weak to expend the energy required for typical motor activity.123 Some children with cyanotic heart defects preferentially scoot around on their buttocks and, even after extensive intervention at home, do not crawl. They often go on to walking without ever crawling,99 probably because of the increased energy expenditure associated with use of both upper and lower extremities in crawling. Children with cyanotic heart defects tend to have an internal mechanism that permits them to do only what they are physically capable of doing, given their oxygen saturation.40 They often rest without cueing and can rarely be pushed beyond what they are willing to do. Intervention may or may not improve the child’s functional abilities; however, it may help relieve parental anxiety. The focus is on quality and efficiency of movement for exploration and play, instead of developmental delay. Therapists are encouraged to collaborate with parents to address concerns regarding physical activity and identify motor activities that promote positive parent–child interactions and can be incorporated into the family’s daily routines, rather than one block of time. The presence of congestive heart failure is associated with mental

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and motor developmental delay. Infants with congestive heart failure scored less well than expected on the Bayley Scales of Infant Development I as early as 2 months of age.3 Haneda and associates observed a significant decrease in developmental quotient on the Gesell Developmental Schedules in infants and children who had circulatory arrest time greater than 50 minutes.81 This information is useful when working with parents to help them understand that their child is demonstrating typical developmental skills for a child with CHD. This does not mean that intervention is not indicated. Resolution of neuromotor impairments by 15 months of age was reported for infants with CHD who had abnormal findings at 4–6 months of age and subsequently received physical therapy.37 Therapists are encouraged to collaborate with families to promote motor development. If impairments in body functions and structures and activity limitations are minimized, the effects of reparative surgery may be dramatic. Neurologic impairment and activity limitations may also occur from physiologic factors related to the surgical repair. Discrepancy exists regarding the effects of deep hypothermia and circulatory arrest on the psychomotor and intellectual development of infants.26,80,146,187,200 Messmer and associates observed no delay in psychomotor and intellectual development in infants after deep hypothermia.146 Kaltman and associates evaluated neurodevelopmental outcome in infants after an early repair for a VSD.100 Mean mental and psychomotor indices were within the normal range for children who did not have a suspected or confirmed genetic syndrome. In another study, infants did not have neurologic impairments after surgery but did demonstrate mild developmental delays, most pronounced in infants with cyanotic heart defects.80 Bellinger and associates observed that infants who had total circulatory arrest during the arterial switch operation scored lower on the Bayley Scales of Infant Development at 1 year of age than infants who had low-flow bypass.21 These children were also observed to have expressive language difficulties at 2.5 years of age and exhibited more behavior problems.21 Deep hypothermic circulatory arrest greater than 40 minutes correlated with a greater occurrence of seizures postoperatively.68 Clancy and associates observed seizures postoperatively in greater

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than 11% of infants in the immediate postoperative period.39 All of the infants had undergone cardiopulmonary bypass during surgery.39 The presence of a genetic syndrome was a strong predictor of lower scores on the Bayley Scales of Infant Development.156 Gessler and associates performed neurologic examinations on infants preoperatively and postoperatively and reported mild asymmetries in muscle tone in one third of the infants preoperatively and in almost two thirds postoperatively.69 They also found that the inflammatory response to cardiopulmonary bypass has an adverse effect on neuromotor outcome. Research by Sahu and associates indicates that weaning the infant off bypass at lower temperatures lowers the risk for postoperative neurophysiologic dysfunction more than weaning at slightly higher temperatures.191 Parental report of their children’s health-related quality of life at 1 year and 4 years after open-heart surgery was lower in the physical and cognitive dimensions especially if there was an underlying genetic defect or the infant was tube fed.225 There is a need for research to identify factors that are predictive of risk for neurologic impairments in young children after cardiac surgery.211 In light of conflicting evidence, therapists should realize there is some uncertainty. Parents should be advised that their child might take longer than usual to accomplish developmental milestones. In a comprehensive review of the literature from the mid 1970s to the late 1990s, the overall long-term development of children after repair or palliation for CHD as infants was within the expected range for most standardized tests.131

Early Childhood The young child (3–5 years of age) with chronic disabilities related to CHD has spent a lot of time in a medical environment. This familiarity with the environment may help to alleviate some of the child’s and the parents’ anxieties when surgery is imminent. Parental anxieties can be exacerbated during this period, however, as they begin to realize the impact that their child’s cardiac disease has on growth and development. The child’s symptoms could be worsening, and another surgery may soon be needed. Parent responses and interactions during this period are important; it

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should be recognized that parents already have the tendency to be overprotective of their child, and this may increase during the preschool period. The emotional adjustment of the child has been observed to be affected by the mother’s perception of the severity of the child’s illness more than by its actual severity.49 Among children with repaired CHD, increased parental stress was associated with behavior problems at 4 years of age.218 In children with acyanotic heart defects, lower intelligence quotient was associated with poorer adjustment, greater dependence, and greater maternal pampering and anxiety.173 These findings suggest that if a mother perceives her child’s health challenges to be more severe than they are and limits the child accordingly, the child’s physical development and social participation may be affected. If this is a concern, we recommend that the therapist and parents discuss activities the child is capable of performing and observe whether the child self-limits physical activity when necessary. Atallah and associates evaluated the mental and psychomotor developmental indices of children after the Norwood procedure and compared the traditional modified Blalock-Taussig shunt era with the newer right ventricle–to–pulmonary artery shunt era.7 The mental development index did not differ between the two groups. Children who received the right ventricle–to–pulmonary artery shunt, however, had a psychomotor development index and more frequent sensorineural hearing loss. Children with CHD have been reported to have developmental delays, especially those children with cyanotic disease.21,56,135,173 Children with cyanosis scored significantly lower than children who were acyanotic and children without a cardiac condition on all subscales of the Gesell Developmental Schedules81 and on StanfordBinet and Cattell intelligence tests.173 Children with cyanotic heart defects were observed to sit and walk later than children with acyanotic heart defects and children with typical development and were slower in speaking phrases than were children without disabilities.56,173,202 Curtailment of physical activity in the child with severe cardiac dysfunction interferes with manipulation of objects, which facilitates sensorimotor processes.173,202 When toddlers at 24 months of age (who had undergone open-heart surgery before 3

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months of age) were assessed using the Peabody Developmental Motor Scale, gross motor quotients improved but fine motor quotients decreased significantly. All scores were less than average; fine motor quotients were greater than 1 standard deviation below the mean.192 Despite concerns about the impact of limitations in amount of movement and manipulation of objects, intelligence and behavior are often within age expectations.73 Activities of daily living are another area of development to consider.120 Educating parents about what their child is able to do is as important as teaching precautions. Children made significant improvement in gross motor advances during their second year of life when parental warmth was combined with a decrease in parental restrictions. It was also observed that children with CHD performed better on intelligence tests when their parents attempted to accelerate their children’s development.173 Parents should be informed that children with cardiac disease, particularly cyanotic disease, limit their own activity and stop and rest when needed.40 Physical therapists can support the family in becoming more comfortable encouraging the child to initiate and sustain play within the limits of physical endurance. Children with Down syndrome and a cardiac defect were observed to score higher on developmental tests and achieve feeding milestones earlier if parents implemented therapy recommendations.44

Childhood Cognitive function was not found to be affected in children who underwent an ASD repair between ages 3 and 17 years while on cardiopulmonary bypass.204 However, children may be at risk for learning problems and academic issues independent of surgical closure or transcatheter closure.194 This is an important finding because it has long been believed that this was a primary factor in neurologic problems after surgery for congenital heart defects. Children with an ASD, however, do not have the same associated risk factors, such as unstable hemodynamics, chronic hypoxemia, and metabolic acidosis, that children with other congenital heart defects have, particularly those with cyanotic heart defects. When comparing children who had an ASD closed surgically (using cardiac bypass) and children who had interventional closure by

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cardiac catheterization, Visconti and associates found that scores on the Wechsler Intelligence Scale for Children were significantly lower in the surgical closure group.217 This was largely due to impairments in visual-motor and visual-spatial functions. Children who had interventional closure by cardiac catheterization, however, had significantly lower scores for sustained attention. Bellinger and associates compared development and neurologic status of children who received hypothermic circulatory arrest during surgery compared with children who received low-flow cardiopulmonary bypass.22 The two groups did not differ in IQ or overall neurologic status, but both groups had scores below age expectations for visual-spatial and visual-motor integration skills. Children with hypothermic circulatory arrest had lower scores on balance, nonlocomotor ability, and manual dexterity and more difficulty with speech, particularly with imitating oral movements and speech sounds. Bellinger and associates confirmed visualperceptual motor deficits in another group of children who had undergone cardiac surgical repair as infants.19 The findings were not associated with operative methods, but nevertheless the literature supports that all children undergoing surgical repair for a cardiac defect should be considered at risk for neurodevelopmental problems, especially visual-perceptual problems. Mahle and associates performed a similar study but did not find differences in verbal or performance IQ regardless of whether or not the child underwent cardiac bypass.129 Along with congenital heart defects and subsequent surgery, children are at risk for lower IQ scores if they have other defects or a lower socioeconomic status.60 Physical and psychosocial functioning were influenced negatively by lower family income.144 Special attention should be given to children with congenital heart defects and a lower socioeconomic status. School adjustment and peer interaction have been observed to be altered in children with CHD. In a study by Youssef, school absenteeism was high and proportionate to the severity of disability.229 It has been observed that a child’s adjustment to school is affected more by strain on the family than by the child’s physical limitations related to the CHD.34 Teachers have noted that children with CHD had more school problems; especially boys. Children with more behavior problems had lower self-esteem and more

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depression.229 Some of the inability to focus and sustain attention on a task may be related to the surgery, the cardiac defect in and of itself, and frustration with the difficulty associated with visualmotor skills and completing fine motor tasks.19,105 After surgical intervention, some of the behavioral problems may be alleviated; both missing school and diminished activity level should improve postoperatively.122 Children may need rehabilitation after surgical repair, however, to learn how much they are capable of doing, to address limitations in visual-perceptual and fine motor tasks, and to help them manage activity limitations or inability to perform a task. This is critical due to the association between behavioral abnormalities and motor problems in children with CHD.117 Surgery to correct a cyanotic defect has a positive impact on the child’s development. Improvement in IQ following surgery has been reported122,161 and intellectual development was found to be essentially normal in children after the Fontan operation.213 Mahle and associates observed, however, that school-age children with hypoplastic left heart syndrome who had a seizure before their initial surgery scored lower on all IQ subsets.132 Children with hypoplastic left heart syndrome were observed to have reduced exercise tolerance and more frequent education and behavioral concerns.45 Self-confidence, social confidence, and general adjustment have been reported to improve after surgery.122 Significant improvement in self-perception was observed in children after they had their heart defect repaired.227 To the extent decreased experiences are a factor in developmental delay, a child whose activity is no longer limited by a cardiac defect should demonstrate an increased rate of development. Parental overprotectiveness can continue to prove more limiting to a child’s development than the defect itself. Parents were found to underestimate their child’s exercise tolerance in 80% of the cases studied by Casey and associates.33 Parents were also found to rate their child lower cognitively than the child scored on standardized neurologic testing administered by a professional.129 Parental restriction generally begins with the advice of the physician and proceeds from there,40,108 but parent perception of the physician’s advice can be unclear. Longmuir and McCrindle evaluated the physical activity restrictions of children after the Fontan

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operation.124 Twenty percent of children were being unnecessarily restricted in physical exertion by their parents. Yet only 40% of parents knew that their child should not participate in competitive sports, and 50% of parents did not understand that their child had body contact restrictions as a result taking anticoagulation medication. Social and emotional maladjustment in children with cardiac disease can be due to maternal maladjustment and guilt.108 Parental stress has been found to be correlated with IQ scores and with receptive language abilities, behavior scores, and socialization skills.133 Psychosocial or family therapy interventions by professionals are sometimes recommended to facilitate positive parent–child interactions. Some improvement in maternal interaction and attitude was noted after surgical correction of the child’s cardiac defect.161 Interestingly, a study by Laane and associates found that children with congenital heart defects reported a higher quality of life than healthy children.111 It was also observed that parents of children with hypoplastic left heart syndrome described their children’s health, physical ability, and school performance as average or above.132 When compared with healthy children, children with repaired pulmonary atresia had an overall equal quality of life.55 It is important for therapists to keep these findings in mind when interacting with children with congenital heart defects and their families.

Adolescence Adolescents who have CHD and physical limitations may have feelings of anxiety and impulsiveness.110,154 Early professional intervention to assist the parents and child to cope best with the child’s physical limitations may be helpful. It is also important to continue to monitor adolescents with CHD who underwent surgery as an infant. Studies are now finding diminished white matter, which may contribute to cognitive issues as well as decreased cortical grey matter.181,220 Executive functions, perceptual reasoning, memory, visual perception, and visuomotor integration were found to be lower in adolescents with repaired CHD when compared to peers without CHD.196, 220 A delay in the onset of puberty may further complicate social

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development and participation of adolescents with CHD. Body structure of adolescents with CHD was found to be different from adolescents with typical development.6 Height and weight were significantly reduced in adolescents with CHD. Head, neck, and shoulder measurements were similar to those of healthy adolescents, but the thorax, trunk, pelvis, and lower extremities were significantly smaller. The anterior-posterior diameter of the pelvis was so reduced that it appeared almost flat. Physical differences of this magnitude can contribute to adolescents with CHD feeling different and low self-esteem. Participation in physical activities, including guidelines on how to participate, may improve peer interaction and ultimately selfesteem of adolescents with CHD. Children who participated in an exercise program were observed to have improvement in their selfesteem as well as in their strength. Parents were found to be less restrictive and had less anxiety about their child after a formal exercise program.52 Exercise prescription for children with CHD should account for the type of cardiac defect and surgical intervention, as well as possible alterations in the child’s response to exercise. The American Heart Association has published an extensive review of exercise testing in children, including recommendations for children with congenital heart defects.96 Exercise testing performed on children 5 to 18 years after their operation for a Fontan revealed significantly lower maximal workload, maximal oxygen uptake, and maximal heart rate compared with peers without CHD. Children post Fontan surgery were also observed to have less efficient oxygen uptake during submaximal exercise.179 Children post Fontan surgery who had a persistent right-to-left shunt were found to have decreased oxygen saturation levels during exercise.207 This needs to be taken into account when any kind of therapy is provided to children who have a history of the Fontan procedure. Children who participated in cardiac rehabilitation programs have made significant and beneficial changes in hemodynamics and improvement in exercise endurance and tolerance.12,15,72,106,139,165,189 Following physical training, adolescents with CHD had near typical activity levels.72 Children tested 10 years after an arterial switch procedure demonstrated excellent exercise capacity.92 Psychological

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improvements may be noticeable and as important as physical improvements.52,106,134 Adolescents who have undergone heart transplantation are able to achieve an increase in cardiac output in response to exercise; however, they do not achieve the same peak workloads or maximal oxygen consumption as do adolescents without cardiac conditions.38 During the early phase of rehabilitation, many children with transplanted hearts, lungs, or heart-lungs are so debilitated that they are unable to perform at an intensity that would raise their heart rate. The dyspnea index used as part of the Stanford heart transplant protocol is helpful in monitoring the child’s physical tolerance during activity.190 The child counts out loud to 15. The goal initially is to attempt to do this on one breath. At first, it may take three breaths to count to 15 while at rest. Exercise should increase the number of breaths to reach the count of 15 by only one or two breaths and should not be resumed until a return to resting baseline. Most children progress quickly, usually reaching 15 on one breath within 1 week of beginning exercise. The dyspnea index is an easily used measure for self-monitoring of exercise tolerance at home.99 Children who underwent heart transplantation in infancy were found to have exercise capacities that were not different from those of children without cardiac conditions.1 They did have a slightly lower peak heart rate, peak oxygen consumption, and a lower anaerobic threshold, but the respiratory exchange ratio was equal and the oxygen pulse index did not differ significantly. Following heart, heart-lung, and lung transplants, children and youth often experience marked improvements after rehabilitation.27 Following heart-lung transplantation, children have an increased ventilator response to exercise.13,14,199 The dyspnea index is useful in monitoring physical tolerance to activity. The authors have found the dyspnea index highly beneficial for adolescents after transplant to change their lifestyle, as well as increase physical endurance. Quality of life often improves dramatically following heart transplantation with most children reported to be functioning at an age-appropriate level without developmental delays.53,114,158 In a systematic review of long-term survival and morbidity in the presence of CHD, Verheught and associates reported that survival

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is decreased in individuals with CHD when compared with the normal survival rate. Morbidity increased with more complex CHD. The review also concluded that supraventricular arrhythmias were prevalent in patients with ASD, transposition of the great arteries (TGA), and tetralogy of Fallot (TOF); ventricular arrhythmias were more prevalent in TOF, and CVAs were more common with TGA, ASD, and coarctation of the aorta. Heart failure, cyanosis, and complexity of lesions are predictors of increased mortality in adults with CHD. Increased ventilatory response or poor exercise capacity in adults 25 years after a Mustard or Senning operation for transposition of the great arteries increased risk for cardiac emergency or death.70 Fredriksen and associates61 found that patients who underwent surgical correction for TGA demonstrated a gradual decline in exercise performance with age and a significantly lower exercise capacity than healthy peers.61 The International Society for Adult Congenital Heart Disease published an extensive report on the guidelines and management of adults with CHD.221 Readers are referred to this resource for information on management of adults with repaired congenital heart defects.

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Summary The physical therapist has an integral role in the habilitation and rehabilitation of children with congenital heart conditions. This chapter provided foundation knowledge for physical therapists on congenital heart conditions, surgical and medical management, and implications for physical activity and development. Because medical procedures and surgical interventions are occurring earlier, it has become increasingly important for physical therapists to monitor motor development and support parent–child interaction to promote socioemotional development. A major role of the physical therapist involves education and instruction to address parental concerns about physical activity. Knowledge of the physical capacity of children with congenital heart conditions is essential to promote motor development and for leisure and recreational activities.

Case Scenarios on Expert Consult The case scenarios related to this chapter involve the following two topics: cardiomyopathy and complex cyanotic congenital heart disease. The first case looks at a 10-year-old child with a history of cardiomyopathy and a recent heart transplantation receiving physical therapy as an outpatient. The case includes a video that demonstrates exercising after heart transplantation. The second case looks at a child with complex cyanotic congenital heart disease. The child is presented from birth through age 26. Changes in physical capacity and physical therapy interventions at different ages are described.

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References 1. Abarbanell G, Mulla N, Chinnock R, Larsen R. Exercise assessment in infants after cardiac transplantation. J Heart Lung Transplant. 2004;23:1334–1338. 2. Adachi I, Khan M.S, Guzmán-Pruneda F.A, et al. Evolution and impact of ventricular assist device program on children awaiting heart transplantation. Ann Thorac Surg. 2015;99(2):635–640. 3. Aisenberg R.B, Rosenthal A, Nadas A.S, Wolff P.H. Developmental delay in infants with congenital heart disease. Pediatr Cardiol. 1982;3:133–137. 4. Ameduri R, Canter C.E. Pediatric Heart Transplantation. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:1001–1120. 5. Amitia Y, Blieden L, Shemtove A, Neufeld H. Cerebrovascular accidents in infants and children with congenital cyanotic heart disease. Isr J Med Sci. 1984;20:1143–1145. 6. Angelov G, Tomova S, Ninova P. Physical development and body structure of children with congenital heart disease. Hum Biol. 1980;52:413–421. 7. Atallah J, Dinu I.A, Joffe A.R, et al. Two-year survival and mental and psychomotor outcomes after the Norwood procedure. Circulation. 2008;118:1410–1418. 8. Reference deleted in proofs. 9. Backer C.L, Kaushal S, Mavroudis C. Coarctation of the aorta. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:256–282. 10. Backer C.L, Mavroudis C. Atrial septal defect, partial anomalous pulmonary venous connection, and scimitar syndrome. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:295–310.

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11. Baldwin J.T, Borovetz H.S, Duncan B.W, et al. The National Heart, Lung and Blood Institute pediatric circulatory support program. Circulation. 2006;113:147–155. 12. Balfour I.C, Drimmer A.M, Nouri S, et al. Pediatric cardiac rehabilitation. Am J Dis Child. 1991;145:627–630. 13. Banner N, Guz A, Heaton R, et al. Ventilatory and circulatory responses at the onset of exercise in man following heart or heart-lung transplantation. J Physiol. 1988;399:437–449. 14. Banner N.R, Lloyd M.H, Hamilton R.D, et al. Cardiopulmonary response to dynamic exercise after heart and combined heart-lung transplantation. Br Heart J. 1989;61:215–223. 15. Bar-Or O. Physical conditioning in children with cardiorespiratory disease. In: Terjung R.L, ed. Exercise and sport science review. New York: Macmillan; 1985:305–334. 16. Barron D.J, Kilby M.D, Davies B, et al. Hypoplastic left heart syndrome. Lancet. 2009;374:551–564. 17. Bastardi H.J, Naftel D.C, Webber S.A, et al. Ventricular assist devices as a bridge to heart transplantation in children. J Cardiovasc Nurs. 2008;23:25–29. 18. Bautista-Hernandez V, Thiagarajan R.R, FlynnThompson F, et al. Preoperative extracorporeal membrane oxygenation as a bridge to cardiac surgery in children with congenital heart disease. Ann Thorac Surg. 2009;88:1306– 1311. 19. Bellinger D.C, Bernstein J.H, Kirkwood M.W, et al. Visualspatial skills in children after open-heart surgery. J Dev Behav Pediatr. 2003;24:169–179. 20. Bellinger D.C, Jonas R.A, Rappaport L.A, et al. Developmental and neurologic status of children after heart surgery with hypothermic circulatory arrest or lowflow cardiopulmonary bypass. N Engl J Med. 1995;332:549– 555. 21. Bellinger D.C, Rappaport L.A, Wypij D, et al. Patterns of developmental dysfunction after surgery during infancy to correct transposition of the great arteries. J Dev Behav Pediatr. 1997;18:75–83.

2205

22. Bellinger D.C, Wypij D, duPlessis A.J, et al. Neurodevelopmental status at eight years in children with dextro-transposition of the great arteries: the Boston circulatory arrest trial. J Thorac Cardiovasc Surg. 2003;126:1385–1396. 23. Berg A.M, Snell L, Mahle W.T. Home inotropic therapy in children. J Heart Lung Transplant. 2007;26:453–457. 24. Bibevski S, Friedland-Little J, Ohye R, et al. Truncus arteriosus. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1983–2001. 25. Birnbaum B.F, Simpson K.E, Boschert T.A, et al. Intravenous home inotropic use is safe in pediatric patients awaiting transplantation. Circ Heart Fail. 2015;8(1):64–70. 26. Blackwood M.J, Haka-Ikse K, Steward D.J. Developmental outcome in children undergoing surgery with profound hypothermia. Anesthesiology. 1986;65:437–440. 27. Bolman R.M, Shumway S.S, Estrin J.A, Hertz M.I. Lung and heart-lung transplantation. Ann Surg. 1991;214:456–470. 28. Bonello B, Fouilloux V, Le Bel S, et al. Ventricular septal defects. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1455–1478. 29. Botto L.D, Mulinare J, Erickson J.D. Occurrence of congenital heart defects in relation to maternal multivitamin use. Am J Epidemiol. 2000;151:878–884. 30. Bove E.L, Ohye R.G, Devaney E.J. Hypoplastic left heart syndrome: conventional surgical management. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2004;7:3–10. 31. Brink J, Brizard C. Sub-aortic stenosis. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1599–1614. 32. Bruning M.D, Schneiderman J.U. Heart failure in infants and children. In: Michaelson C.R, ed. Congestive heart failure. St. Louis: Mosby; 1983:467–484. 33. Casey F.A, Craig B.G, Mulholland H.C. Quality of life in surgically palliated complex congenital heart disease. Arch

2206

Dis Child. 1994;70:382–386. 34. Casey F.A, Sykes D.H, Craig B.G, et al. Behavioral adjustment of children with surgically palliated complex congenital heart disease. J Pediatr Psychol. 1996;21:335–352. 35. Cassidy J, Haynes S, Kirk R, et al. Changing patterns of bridging to heart transplantation in children. J Heart Lung Transplant. 2009;28:249–254. 36. Chang R.K, Chen A.Y, Klitzner T.S. Clinical management of infants with hypoplastic left heart syndrome in the United States, 1988-1997. Pediatrics. 2002;110:292–298. 37. Chock V.Y, Chang I.J, Reddy M.V. Short-term neurodevelopmental outcomes in neonates with congenital heart disease: the era of newer surgical strategies. Congenit Heart Dis. 2012;7(6):544–550. 38. Christos S.C, Katch V, Crowley D.C, et al. Hemodynamic responses to upright exercise of adolescent cardiac transplant patients. J Pediatr. 1992;121:312–316. 39. Clancy R.R, Sahrif U, Ichord R, et al. Electrographic neonatal seizures after infant heart surgery. Epilepsia. 2005;46:84–90. 40. Clare M.D. Home care of infants and children with cardiac disease. Heart Lung. 1985;14:218–222. 41. Connolly D, McClowry S, Hayman L, et al. Posttraumatic stress disorder in children after cardiac surgery. J Pediatr. 2004;144:480–484. 42. Cooley D.A, Cabello O.V, Preciado F.M. Repair of total anomalous pulmonary venous return. Tex Heart Inst J. 2008;35:451–453. 43. Crane L.D. The neonate and child. In: Frownfelter D.L, ed. Chest physical therapy and pulmonary rehabilitation. Chicago: Year Book; 1987:666–697. 44. Cullen S.M, Cronk C.E, Pueschel S.M, et al. Social development and feeding milestones of young Down syndrome children. Am J Ment Defic. 1981;85:410–415. 45. Davidson J, Gringras P, Fairhurst C, et al. Physical and neurodevelopmental outcomes in children with singleventricle circulation. Arch Dis Child. 2015;100(5):449–453. 46. Davies R.R, Pizarro C. Decision-making for surgery in the management of patients with univentricular heart. Front

2207

Pediatr. 2015;3:61. 47. Del Castillo S.L, Moromisato D.Y, Dorey F, et al. Mesenteric blood flow velocities in the newborn with single-ventricle physiology: modified Blalock-Taussig shunt versus right ventricle-pulmonary artery conduit. Pediatr Crit Care Med. 2006;7:132–137. . 48. Reference deleted in proofs. 49. DeMaso D.R, Campis L.K, Wypij D, et al. The impact of maternal perceptions and medical severity on the adjustment of children with congenital heart disease. J Pediatr Psychol. 1991;16:137–149. 50. Deshpande S, Wolf M, Kim D, Kirshbom P. Simple transposition of the great arteries. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1919–1940. 51. Dipchand A.I, Edwards L.B, Kucheryavaya A.Y, et al. The registry of the International Society for Heart and Lung Transplantation: seventeenth official pediatric heart transplantation report—2014; Focus theme: retransplantation. J Heart Lung Transplant. 2014;33(10) 985– 895. 52. Donovan E.F, Mathews R.A, Nixon P.A, et al. An exercise program for pediatric patients with congenital heart disease: psychological aspects. J Cardiac Rehabil. 1983;3:476– 480. 53. Dunn J.M, Cavarocchi N.C, Balsara R.K, et al. Pediatric heart transplantation, at St. Christopher’s Hospital for Children. J Heart Transplant. 1987;6:334–342. 54. duPlessis A.J, Chang A.C, Wessel D.L, et al. Cerebrovascular accidents following the Fontan operation. Pediatr Neurol. 1995;12:230–236. 55. Ekman-Joelsson B.M, Berntsson L, Sunnegardh J. Quality of life in children with pulmonary atresia and intact ventricular septum. Cardiol Young. 2004;14:615–621. 56. Feldt R.H, Ewert J.C, Stickler G.B, Weidman W.H. Children with congenital heart disease. Am J Dis Child. 1969;117:281– 287.

2208

57. Fenton K.N, Webber S.A, Danford D.A, et al. Long-term survival after pediatric cardiac transplantation and postoperative ECMO support. Ann Thorac Surg. 2003;76:843–847. 58. Ferry P.C. Neurologic sequelae of open-heart surgery in children. Am J Dis Child. 1990;144:369–373. 59. Fogel M.A, Li C, Wilson F, et al. Relationship of cerebral blood flow to aortic-to-pulmonary collateral/shunt flow in single ventricles. Heart August. 2015;101(16):1325–1331. 60. Forbess J.M, Visconti K.J, Hancock-Friesen C, et al. Circulation. 2002;106(Suppl I):I-95–I-102. 61. Fredriksen P.M, Pettersen E, Thaulow E. Declining aerobic capacity of patients with arterial and atrial switch procedures. Pediatr Cardiol. 2009;30:166–171. 62. Reference deleted in proofs. 63. Furness S, Hyslop-St. George C, Pound B, et al. Development of an interprofessional pediatric ventricular assist device support team. ASAIO J. 2008;54:483–485. 64. Garcia E, Granados M, Fittipaldi M, Comas J. Persistent arterial duct. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1425–1437. 65. Gardner F.V, Freeman N.H, Black A.M, Angelini G.D. Disturbed mother-infant interaction in association with congenital heart disease. Heart. 1996;76:56–59. 66. Gaynor J.W, Jarvik G.P, Bernbaum J, et al. The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg. 2006;131:181–189. 67. Gaynor J.W, Stopp C, Wypij D, et al. Neurodevelopmental outcomes after cardiac surgery in infancy. Pediatrics. 2015;135(5):816–825. 68. Gaynor J.W, Wernovsky G, Jarvik G.P, et al. Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after

2209

neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg. 2007;133:1344–1353. 69. Gessler P, Schmitt B, Pretre R, Latal B. Inflammatory response and neurodevelopmental outcome after openheart surgery. Pediatr Cardiol. 2009;30:301–305. 70. Giardini A, Hager A, Lammers A.E, et al. Ventilatory efficiency and aerobic capacity predict event-free survival in adults with atrial repair for complete transposition of the great arteries. J Am Coll Cardiol. 2009;53:1548–1555. 71. Gingell R.L, Hornung M.G. Growth problems associated with congenital heart disease in infancy. In: Lebenthal E, ed. Textbook of gastroenterology and nutrition in infancy. ed 2. New York: Raven Press; 1989:639– 649. 72. Goldberg B, Fripp R.R, Lister G, et al. Effect of physical training on exercise performance of children following surgical repair of congenital heart disease. Pediatrics. 1981;68:691–699. 73. Goldberg C.S, Schwartz E.M, Brunberg J.A, et al. Neurodevelopmental outcome of patients after the Fontan operation: a comparison between children with hypoplastic left heart syndrome and other functional single ventricle lesions. J Pediatr. 2000;137:646–652. 74. Goldberg S, Simmons R.J, Newman J, et al. Congenital heart disease, parental stress, and infant-mother relationships. J Pediatr. 1991;119:661–666. 75. Goldberg S, Washington J, Morris P, et al. Early diagnosed chronic illness and mother-child relationships in the first two years. Can J Psychiatry. 1990;55:726–733. 76. Reference deleted in proofs. 77. Griffiths E.R, Kaza A.K, Wyler von Ballmoos M.C, et al. Evaluating failing Fontans for heart transplantation: predictors of death. Ann Thorac Surg. 2009;88:558–564. 78. Gudermuth S. Mothers’ reports of early experiences of infants with congenital heart disease. Matern Child Nurs J. 1975;4:155–164. 79. Guillemaud J.P, ElHakim H, Richards S, Chauhan N. Airway pathologic

2210

abnormalities in symptomatic children with congenital cardiac and vascular disease. Arch Otolaryngol Head Neck Surg. 2007;133:672–676. 80. Haka-Ikse K, Blackwood M.A, Steward D.J. Psychomotor development of infants and children after profound hypothermia during surgery for congenital heart disease. Dev Med Child Neurol. 1978;20:62–70. 81. Haneda K, Itoh T, Togo T, et al. Effects of cardiac surgery on intellectual function in infants and children. Cardiovasc Surg. 1996;4:303–307. 82. Harrison A.M, Davis S, Reid J.R, et al. Neonates with hypoplastic left heart syndrome have ultrasound evidence of abnormal superior mesenteric artery perfusion before and after the modified Norwood procedure. Pediatr Crit Care Med. 2005;6:445–447. 83. Hazekamp M, Schneider A, Blom N. Pulmonary atresia with intact ventricular septum. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1543–1555. 84. Hetzer R, Stiller B. Technology insight: use of ventricular assist devices in children. Nat Clin Pract Cardiovasc Med. 2006;3:377–387. 85. Hirsch J.C, Charpie J.R, Ohye R.G, Gurney J.G. Near infrared spectroscopy: what we know and what we need to know-A systematic review of the congenital heart disease. J Thorac Cardiovasc Surg. 2009;137:154–159. 86. Hirsch J.C, Devaney E.J, Ohye R.G, Bove E.L. Hypoplastic left heart syndrome. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:619–635. 87. Hoffman G.M, Brosig C, Mussatto K, et al. Perioperative cerebral oxygen saturation in neonates with hypoplastic left heart syndrome and childhood neurodevelopmental outcome. J Thorac Cardiovasc Surg. 2013;146(5):1153–1164. 88. Hoffman J.I, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890–1900.

2211

89. Holden K.R, Sessions J.C, Cure J, et al. Neurologic outcomes in children with post-pump choreoathetosis. J Pediatr. 1998;132:162–164. 90. Hollander S.A, Callus E. Cognitive and psycholologic considerations in pediatric heart failure. J Card Fail. 2014;20(10):782–785. 91. Hollander S.A, Hollander A.J, Rizzuto S, et al. An inpatient rehabilitation program utilizing standardized care pathways after paracorporeal ventricular assist device placement in children. J Heart Lung Transplant. 2014;33(6):587–592. 92. Hovels-Gurich H.H, Kunz D, Seghaye M, et al. Results of exercise testing at a mean age of 10 years after neonatal arterial switch operation. Acta Paediatrica. 2003;92:190–196. 93. Imamura M, Dossey A.M, Prodhan P, et al. Bridge to cardiac transplantation in children: Berlin Heart versus extracorporeal membrane oxygenation. Ann Thorac Surg. 2009;87:1894–1901. 94. Jadcherla S.R, Vijayapal A.S, Leuthner S. Feeding abilities in neonates with congenital heart disease: a retrospective study. J Perinatol. 2009;29:112–118. 95. Jaggers J, Barrett C, Landeck B. Pulmonary stenosis and insufficiency. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1557–1576. . 96. James F.W, Blomqvist C.G, Freed M.D, et al. Standards for exercise testing in the pediatric age group. Circulation. 1982;66:1377A–1397A. 97. Jayakumar K.A, Addonizio L.J, Kichuk-Chrisant M.R, et al. Cardiac transplantation after the Fontan or Glenn procedure. J Am Coll Cardiol. 2004;44:2065–2072. 98. Jenkins K.J, Correa A, Feinstein J.A, et al. Noninherited risk factors and congenital cardiovascular defects: current knowledge. A scientific statement from the American Heart Association Council on cardiovascular disease in the young. Circulation. 2007;115:2995–3014. 99. Johnson B.A. Postoperative physical therapy in the pediatric

2212

cardiac surgery patient. Pediatr Phys Ther. 1991;2:14–22. 100. Kaltman J.R, Jarvik G.P, Bernbaum J, et al. Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstruction. J Thorac Cardiovasc Surg. 2006;131:792–798. 101. Kayambu G, Boots R, Paratz J. Physical therapy for the critically ill in the ICU: a systematic review and metaanalysis. Crit Care Med. 2013;41(6):1543–1554. 102. Kelleher D.K, Laussen P, TeizeiraPinto A, Duggan C. Growth and correlates of nutritional status among infants with hypoplastic left heart syndrome after stage 1 Norwood procedure. Nutrition. 2006;22:236– 244. 103. Kendall S, Karamichalis J, Karamlou T, et al. Atrial septal defect. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1439–1454. 104. Kirk R, Edwards L.B, Aurora P, et al. Registry of the International Society for Heart and Lung Transplantation: eleventh official pediatric heart transplantation report2008. J Heart Lung Transplant. 2008;27:970–977. 105. Kirshbom P.M, Flynn T.B, Clancy R.R, et al. Late neurodevelopmental outcome after repair of total anomalous pulmonary venous connection. J Thorac Cardiovasc Surg. 2005;129:1091–1097. 106. Koch B.M, Galioto F.M, Vaccaro P, et al. Flexibility and strength measures in children participating in a cardiac rehabilitation exercise program. Phys Sports Med. 1988;116:139–147. 107. Kolovos N.S, Bratton S.L, Moler F.W, et al. Outcome of pediatric patients treated with extracorporeal life support after cardiac surgery. Ann Thorac Surg. 2003;76:1435–1442. 108. Kong S.G, Tay J.S, Yip W.C, Chay S.O. Emotional and social effects of congenital heart disease in Singapore. Aust Paediatr J. 1986;22:101–106. 109. Kovacikova L, Dobos D, Zahorec M. Non-invasive positive pressure ventilation for bilateral diaphragm after pediatric cardiac surgery. Interact Cardiovasc Thorac Surg. 2009;8:171–

2213

172. 110. Kramer H.H, Aswiszus D, Sterzel U, et al. Development of personality and intelligence in children with congenital heart disease. J Child Psychiatry. 1989;30:299–308. 111. Laane K.M, Meberg A, Otterstad J.E, et al. Quality of life in children with congenital heart defects. Acta Paediatrica. 1997;86:975–980. 112. Lamour J.M, Kanter K.R, Naftel D.C, et al. The effect of age, diagnosis, and previous surgery in children and adults undergoing heart transplantation for congenital heart disease. J Am Coll Cardiol. 2009;54:160–165. 113. Latal B, Kellenberger C, Dimitropoulos A, Beck I, et al. Can preoperative cranial ultrasound predict early neurodevelopmental outcome in infants with congenital heart disease? Dev Med Child Neurol. 2015(7):639–644. 114. Lawrence K.S, Fricker F.J. Pediatric heart transplantation: quality of life. J Heart Transplantat. 1987;6:329–333. 115. Lee H, Ko Y.J, Suh G.Y, et al. Safety profile and feasibility of early physical therapy and mobility for critically ill patients in the medical intensive care unit: beginning experiences in Korea. J Crit Care. 2015;30(4):673–677. 116. Lee M, Udekem Y, Brizard C. Coarctation of the aorta. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1631–1646. 117. Liamlahi R, von Rhein M, Buhrer S, et al. Motor dysfunction and behavioural problems frequently coexist with congenital heart disease in school-age children. Acta Paediatrica. 2014;103(7):752–758. 118. Licht D.J, Shera D.M, Clancy R.R, et al. Brain maturation is delayed in infants with complex congenital heart defects. J Thorac Cardiovasc Surg. 2009;137:529–537. 119. Licht D.J, Wang J, Silvestre D.W, et al. Preoperative cerebral blood flow is diminished in neonates with severe congenital heart defects. J Thorac Cardiovasc Surg. 2004;128:841–850. 120. Limperopoulos C, Majnemer A, Shevell M.I, et al. Functional limitations in young children with congenital heart defects after cardiac surgery. Pediatrics. 2001;108:1325–

2214

1331. 121. Limperopoulos C, Tworetzky W, McElhinney D.B, et al. Brain volume and metabolism in fetuses with congenital heart disease: evaluation with quantitative magnetic resonance imaging and spectroscopy. Circulation. 2010;121(1):26–33. 122. Linde L.M, Rasof B, Dunn O.J. Longitudinal studies of intellectual and behavioral development in children with congenital heart disease. Acta Paediatrica. 1970;59:169–176. 123. Loeffel M. Developmental considerations of infants and children with congenital heart disease. Heart Lung. 1985;14:214–217. 124. Longmuri P.E, McCrindle B.W. Physical activity restrictions for children after the Fontan operation: disagreement between parent, cardiologist and medical record reports. Am Heart J. 2009;157:853–859. 125. Lorts A, Zafar F, Adachi I, Morales D.L.S. Mechanical assist devices in neonates and infants. Semin Thorac Cardiovasc Surg Pediatr Card Surg Ann. 2014;17(1):91–95. 126. Lynch J.M, Buckley E.M, Schwab P.J, et al. Time to surgery and preoperative cerebral hemodynamics predict postoperative white matter injury in neonates with hypoplastic left heart syndrome. J Thorac Cardiovasc Surg. 2014;148(5):2181–2188. 127. Maher K.O, Pizarro C, Gidding S.S, et al. Hemodynamic profile after the Norwood procedure with right ventricle to pulmonary artery conduit. Circulation. 2003;108:782–784. 128. Mahle W.T, Clancy R.R, McGaurn S.P, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. 129. Mahle W.T, Lundine K, Kanter K.R, et al. The short term effects of cardiopulmonary bypass on neurologic function in children and young adults. Eur J Cardiothorac Surg. 2004;26:920–925. 130. Mahle W.T, Tavani F, Zimmerman R.A, et al. An MRI study of neurological injury before and after congenital heart surgery. Circulation. 2002;106(Suppl I):I-109–I-114.

2215

131. Mahle W.T, Wernovsky G. Long-term developmental outcome of children with complex congenital heart disease. Clin Perinatol. 2001;28:235–247. 132. Mahle W.T, Wernovsky G, Moss E.M, et al. Neurodevelopmental outcome and lifestyle assessment in school age and adolescent children with hypoplastic left heart syndrome. Pediatrics. 2000;105:1082–1089. 133. Majnemer A, Limperopoulos C, Shevell M, et al. Developmental and functional outcomes at school entry in children with congenital heart defects. J Pediatr. 2008;153:55–60. 134. Malaisrie S.C, Pelletier M.P, Yun J.J, et al. Pneumatic paracorporeal ventricular assistive device in infants and children: initial Stanford experience. J Heart Lung Transplant. 2008;27:173–177. 135. Marino B.S, Lipkin P.H, Newburger J.W, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012;126(9):1143–1172. 136. Mascio C.E. The use of ventricular assist device support in children: the state of the art. Artif Organs. 2015;39(1):14–20. 137. Mathew O.P. Respiratory control during nipple feeding in pre-term infants. Pediatr Pulmonol. 1988;5:220–224. 138. Mathew O.P, Clark M.L, Pronske M.L, et al. Breathing pattern and ventilation during oral feeding in term newborn infants. J Pediatr. 1985;106:810–813. 139. Mathews R.A, Nixon P.A, Stephenson R.J, et al. An exercise program for pediatric patients with congenital heart disease: organizational and physiologic aspects. J Cardiac Rehabil. 1983;3:467–475. 140. Mavroudis C, Backer C.L, Wiley Online Library (Online service), . Pediatric cardiac surgery. Chichester, West Sussex, UK: Wiley Blackwell; 2013. 141. Mavroudis C, Backer C.L. Transposition of the great arteries. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:492–529.

2216

142. Mavroudis C, Backer C.L, Jacobs J.P, Anderson R.H. Ventricular septal defect. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:311–341. . 143. McBride M.G, Binder T.J, Paridon S.M. Safety and feasibility of inpatient exercise training in pediatric heart failure: a preliminary report. J Cardiopulm Rehabil Prev. 2007;27:219– 222. 144. McCrindle B.W, Williams R.V, Mitchell P.D, et al. Relationship of patient and medical characteristics to health status in children and adolescents after the Fontan procedure. Circulation. 2006;113:1123–1129. 145. McCusker C.G, Doherty N.N, Molloy B, et al. A controlled trial of early interventions to promote maternal adjustment and development in infants born with severe congenital heart disease. Child Care Health Dev. 2010;36(1):110–117. 146. Messmer B.J, Schallberger Y, Gattiker R, Senning A. Psychomotor and intellectual development after deep hypothermia and circulatory arrest in early infancy. J Thorac Cardiovasc Surg. 1976;72:495–501. 147. Miller J.R, Lancaster T.S, Eghtesady P. Current approaches to device implantation in pediatric and congenital heart disease patients. Expert Rev Cardiovasc Ther. 2015;13(4):417– 427. 148. Miller J.R, Boston U.S, Epstein D.J, et al. Pediatric quality of life while supported with a ventricular assist device. Congenit Heart Dis. 2015;10(4):E189–E196. 149. Miller S.P, McQuillen P.S, Hamrick S, et al. Abnormal brain development in newborns with congenital heart disease. N Engl J Med November. 2007;357(19):1927–1938. 150. Miyamoto S, Campbell D, Auerbach S. Heart transplantation. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:2827–2850. 151. Morales D.L.S, Almond C.S.D, Jaquiss R.D.B, et al. Bridging

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children of all sizes to cardiac transplantation: the initial multicenter North American experience with the Berlin Heart EXCOR ventricular assist device. J Heart Lung Transplant. 2011;30(1):1–8. 152. Mumtaz M.A, Qureshi A, Mavroudis C, Backer C.L. Patent ductus arteriosus. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:225–233. 153. Mussatto K.A, Hoffmann R, Hoffman G, et al. Risk factors for abnormal developmental trajectories in young children with congenital heart disease. Circulation. 2015;132(8):755– 761. 154. Neal A.E, Stopp C, Wypij D, et al. Predictors of healthrelated quality of life in adolescents with tetralogy of Fallot. J Pediatr. 2015;166(1):132–138. 155. Nelson J, Bove E, Hirsch-Romano J. Tetralogy of Fallot. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1505–1526. 156. Newberger J.W, Sleeper L.A, Bellinger D.C, et al. Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies. Circulation. 2012;125:2081–2091. 157. Newberger J.W, Wypij D, Bellinger D.C, et al. Length of stay after infant heart surgery is related to cognitive outcome at age 8 years. J Pediatr. 2003;143:67–73. 158. Niset G, Coustry-Degre C, Degre S. Psychosocial and physical rehabilitation after heart transplantation: 1-year follow-up. Cardiology. 1988;75:311–317. 159. Nydegger A, Walsh A, Penny D.J, et al. Changes in resting energy expenditure in children with congenital heart disease. Eur J Clin Nutrit. 2009;63:392–397. 160. Nytroen K, Gullestad L. Exercise after heart transplantation: an overview. World J Transplant. 2013;3(4):78–90. 161. O’Dougharty M, Wright F.S, Loewenson R.B, Torres F. Cerebral dysfunction after chronic hypoxia in children. Neurology. 1985;35:42–46.

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162. Owen M, Shevell M.C.M, Donofrio M, et al. Brain volume and neurobehavior in newborns with complex congenital heart defects. J Pediatr. 2014;164(5):1121–1127e1. 163. Ozbaran M, Yagdi T, Engin C, et al. New era of pediatric ventricular assist devices: let us go to school. Pediatr Transplant. 2015;19(1):82–86. 164. Patel P, Rotta A, Brown J. Partial and total anomalous pulmonary venous connections and associated defects. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:1885–1904. 165. Perrault H, Drblik S.P. Exercise after surgical repair of congenital cardiac lesions. Sports Med. 1989;7:18–31. 166. Phelps H.M, Mahle W.T, Kim D, et al. Postoperative cerebral oxygenation in hypoplastic left heart syndrome after the Norwood procedure. Ann Thorac Surg. 2009;87:1490–1494. 167. Pierpont M.L, Basson D.T, Benson D.W, et al. Genetic basis for congenital heart defects: current knowledge. A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115:3015–3038. 168. Pizarro C, Malec E, Maher K.O, et al. Right ventricle to pulmonary artery conduit improves outcome after stage I Norwood for hypoplastic left heart syndrome. Circulation. 2003;108(Suppl II):II-155–II-160. 169. Polastri M, Loforte A, Dell’Amore A, Nava S. Physiotherapy for patients on awake extracorporeal membrane oxygenation: a systematic review. Physiother Res Int. 2015 [Epub ahead of print]. 170. Reference deleted in proofs. 171. Rajantie I.P.T, Laurila M.P.T, Pollari K.P.T, et al. Motor development of infants with univentricular heart at the ages of 16 and 52 weeks. Pediatr Phys Ther. 2013;25(4):444–450. 172. Rao P.S. Tricuspid atresia. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken,

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NJ: Blackwell; 2013:487–508. 173. Rasof B, Linde L.M, Dunn O.J. Intellectual development in children with congenital heart disease. Child Dev. 1967;38:1043–1053. 174. Ravishankar C, Zak V, Williams I.A, et al. Association of impaired linear growth and worse neurodevelopmental outcome in infants with single ventricle physiology: a report from the pediatric heart network infant single ventricle trial. J Pediatr. 2013;162(2):250–256e2. 175. Rawlinson E, Howard R. Post-operative sedation and analgesia. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:705–719. 176. Reference deleted in proofs. 177. Reference deleted in proofs. 178. Rehabilitation of patients on Berlin Heart EXCOR pediatric ventricular assist devices at Texas Children’s Hospital. Presented at Texas Children’s Hospital; May 29, 2009. 179. Robbers-Visser D, Kapusta L, van Osch-Gevers L, et al. Clinical outcome 5 to 18 years after the Fontan operation performed on children younger than 5 years. J Thorac Cardiovasc Surg. 2009;138:89–95. 180. Rockett S.R, Bryant J.C, Morrow W.R. Preliminary single center North American experience with the Berlin Heart pediatric EXCOR device. ASAIO J. 2008;54:479–482. 181. Rollins C.K, Newburger J.W. Neurodevelopmental outcomes in congenital heart disease. Circulation. 2014;130(14):e124–e146. 182. Roos-Hesselink J.W, Meijboom F.J, Spitaels S.E, et al. Excellent survival and low incidence of arrhythmias, stroke and heart failure long-term after surgical ASD closure at young age: a prospective follow-up study of 2133 years. Eur Heart J. 2003;24:190–197. 183. Rosenthal A. Care of the postoperative child and adolescent with congenital heart disease. In: Barness L.A, ed. Advances in pediatrics. Chicago: Year Book; 1983:131–167. 184. Rossano J.W, Jang G.Y. Pediatric heart failure: current state

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and future possibilities. Korean Circ J. 2015;45(1):1–8. 185. Rossano J.W, Morales D, Fraser C.D. Heart transplantation. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:813–826. 186. Rossi A.F, Fishberger S, Hannan R.L, et al. Frequency and indications for tracheostomy and gastrostomy after congenital heart surgery. Pediatr Cardiol. 2009;30:225–231. 187. Rossi A.F, Seiden H.S, Sadeghi A.M, et al. The outcome of cardiac operations in infants weighing two kilograms or less. J Thorac Cardiovasc Surg. 1998;116:29–35. 188. Ross Russell R.I, Helms P.J, Elliot M.J. A prospective study of phrenic nerve damage after cardiac surgery in children. Intensive Care Med. 2008;34:727–734. 189. Ruttenberg H.D, Adams T.D, Orsmond G.S, et al. Effects of exercise training on aerobic fitness in children after open heart surgery. Pediatr Cardiol. 1983;4:19–24. . 190. Sadowsky H.S, Rohrkemper K.F, Quon S.Y.M. Rehabilitation of cardiac and cardiopulmonary recipients: an introduction for physical and occupational therapists. Stanford, CA: Stanford University Hospital; 1986. 191. Sahu B, Chauhan S, Kiran U, et al. Neuropsychological function in children with cyanotic heart disease undergoing corrective cardiac surgery: effect of two different rewarming strategies. Eur J Cardiothorac Surg. 2009;35:505– 510. 192. Sananes R, Manlhiot C, Kelly E, et al. Neurodevelopmental outcomes after open heart operations before 3 months of age. Ann Thorac Surg. 2012;93(5):1577–1583. 193. Sano S, Ishino K, Kado H, et al. Outcome of right ventricleto-pulmonary artery shunt in first-stage palliation of hypoplastic left heart syndrome: a multi-institutional study. Ann Thorac Surg. 2004;78:1951–1958. 194. Sarrechia I, De Wolf D, Miatton M, et al. Neurodevelopment and behavior after transcatheter versus surgical closure of secundum type atrial septal defect. J Pediatr. 2015;166(1):31– 38e1. 195. Scaravilli V, Zanella A, Sangalli F, Patroniti N. Basic aspects

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of physiology during ECMO support. In: Sangalli F, Patroniti N, Pesenti A, eds. ECMOextracorporeal life support in adults. Milan, Italy: SpringerVertag Italia; 2014:19–36. 196. Schaefer C, von Rhein M, Knirsch W, et al. Neurodevelopmental outcome, psychological adjustment, and quality of life in adolescents with congenital heart disease. Dev Med Child Neurol December. 2013;55(12):1143–1149. 197. Schultz A.H, Jarvik G.P, Wernovsky G, et al. Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births. J Thorac Cardiovasc Surg. 2005;130:1511–1516. 198. Schweiger M, Vanderpluym C, Jeewa A, et al. Outpatient management of intra-corporeal left ventricular assist device system in children: a multi-center experience. Am J Transplant. 2015;5(2):453–460. 199. Sciurba F.C, Owens G.R, Sanders M.H, et al. Evidence of an altered pattern of breathing during exercise in recipients of heart-lung transplants. N Engl J Med. 1988;319:1186–1192. 200. Settergren G, Ohqvist G, Lundberg S, et al. Cerebral blood flow and cerebral metabolism in children following cardiac surgery with deep hypothermia and circulatory arrest: clinical course and follow-up of psychomotor development. Scand J Thoracic Cardiovasc Surg. 1982;16:209– 215. 201. Shi S.S, Zhao Z.Y, Liu X.W, et al. Perioperative risk factors for prolonged mechanical ventilation following cardiac surgery in neonates and young infants. Chest J. 2009;134:768–774. 202. Silbert A, Wolff P.H, Mayer B, et al. Cyanotic heart disease and psychological development. Pediatrics. 1969;43:192–200. 203. Staveski S.L, Avery S, Rosenthal D.N, et al. Implementation of a comprehensive interdisciplinary care coordination of infants and young children on Berlin Heart ventricular assist devices. J Cardiovasc Nurs. 2011;26(3):231–238. 204. Stavinoha P.L, Fixler D.E, Mahony L. Cardiopulmonary bypass to repair an atrial septal defect does not affect

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cognitive function in children. Circulation. 2003;107:2722– 2725. 205. Stewart R.D, Mavroudis C, Backer C.L. Tetralogy of Fallot. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:410–427. 206. Stigall W, Willis B. Mechanical ventilation, cardiopulmonary interactions, and pulmonary issues in children with critical cardiac disease. In: Da Cruz E.M, Ivy D, Jaggers J, eds. Pediatric and congenital cardiology, cardiac surgery and intensive care. London: Springer; 2014:3147–3181. 207. StromvallLarsson E, Eriksson E, Holgren D, Sixt R. Pulmonary gas exchange during exercise in Fontan patients at a long-term follow-up. Clin Physiol Funct Imaging. 2004;24:327–334. 208. Throckmorton A.L, Chopski S.G. Pediatric circulator support: current strategies and future directions. Biventricular and univentricular mechanical assistance. ASAIO J. 2008;54:491–497. 209. Thrush P.T, Hoffman T.M. Pediatric heart transplantationindications and outcomes in the current era. J Thorac Dis. 2014;6(8):1080–1096. 210. Tibballs J, Cantwell-Bartl A. Outcomes of management decisions by parents for their infants with hypoplastic left heart syndrome born with and without a prenatal diagnosis. J Paediatr Child Health. 2008;44:321–324. 211. Trittenwein G, Nardi A, Pansi H, et al. Early postoperative prediction of cerebral damage after pediatric cardiac surgery. Ann Thorac Surg. 2003;76:576–580. 212. Turner D.A, Rehder K.J, Bonadonna D, et al. Ambulatory ECMO as a bridge to lung transplant in a previously well pediatric patient with ARDS. Pediatrics. 2014;134(2):e583– e585. 213. Uzark L, Lincoln A, Lamberti J.J, et al. Neurodevelopmental outcomes in children with Fontan repair of functional single ventricle. Pediatrics. 1998;101:630–633. 214. Vaidyanathan B, Radhakrishnn R, Sarala DA, et al.: What

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determines nutritional recovery in malnourished children after correction of congenital heart defects. Pediatrics 124(2):e294–e299. 215. van Breda A. Postoperative care of infants and children who require cardiac surgery. Heart Lung. 1985;14:205–207. 216. Viola N, Caldarone C.A. Total anomalous pulmonary venous connection. In: Mavroudis C, Backer C, eds. Pediatric cardiovascular medicine. ed 4. Hoboken, NJ: Blackwell; 2013:659–673. 217. Visconti K.J, Bichell D.P, Jonas R.A, et al. Developmental outcome after surgical versus interventional closure of secundum atrial septal defect in children. Circulation. 1999;100(Suppl):II145–II150. 218. Visconti K.J, Saudino K.J, Rappaport L.A, et al. Influence of parental stress and social support on the behavioural adjustment of children with transposition of the great arteries. J Dev Behav Pediatr. 2002;23:314–321. 219. Vollman K.M. Introduction to progressive mobility. Crit Care Nurse. 2010;30(2):S3–S5. 220. von Rhein M, Buchmann A, Hagmann C, et al. Brain volumes predict neurodevelopment in adolescents after surgery for congenital heart disease. Brain. 2014;137(1):268– 276. 221. Warnes C.A, Williams R.G, Bashore T.M, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation. 2008;118(23):e714–e833. 222. Watchie J. Cardiovascular and pulmonary physical therapy: a clinical manual. ed 2. St. Louis: Saunders; 2009. 223. Welke K.F, O’Brien S.M, Peterson E.D, et al. The complex relationship between pediatric cardiac surgical case volumes and mortality rates in a national clinical database. J Thorac Surg. 2009;137:1133–1140. 224. Wells F.C, Coghill S, Caplan H.L, Lincoln C. Duration of circulatory arrest does influence the psychological

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development of children after cardiac operation in early life. J Thorac Cardiovasc Surg. 1983;86:823–831. 225. Werner H, Latal B, Valsangiacomo Buechel E, et al. Healthrelated quality of life after open-heart surgery. J Pediatr. 2014;164(2):254–258e1. 226. Wieczorek B, Burke C, Al-Harbi A, Kudchadkar S.R. Early mobilization in the pediatric intensive care unit: a systematic review. J Pediatr Intensive Care. 2015:129–170. 227. Wray J, Sensky T. How does the intervention of cardiac surgery affect the self-perception of children with congenital heart disease? Child Care Health Dev. 1998;24:57– 72. 228. Yi S.H, Kim S.J, Huh J, et al. Dysphagia in infants after open heart procedures. Am J Phys Med Rehabil. 2013;92(6):496–503. 229. Youssef N.M. School adjustment of children with congenital heart disease. Matern Child Nurs J. 1988;17:217–302. 230. Zafar F, Castleberry C, Khan M.S, et al. Pediatric heart transplant waiting list mortality in the era of ventricular assist devices. J Heart Lung Transplant. 2015;34(1):82–88. 231. Zebuhr C, Sinha A, Skillman H, Buckvold S. Active rehabilitation in a pediatric extracorporeal membrane oxygenation patient. PM R. 2014;6(5):456–460. 232. Zetser I, Jarvik G.P, Bernbaum J, et al. Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. J Thorac Cardiovasc Surg. 2008;135:91–97.

Suggested Readings Almond C.S, Thiagarajan R.R, Piercey G.E, et al. Waiting list mortality among children listed for heart transplantation in the United States. Circulation. 2009;119:717–727. Chock V.Y, Chang I.J, Reddy M.V. Short-term neurodevelopmental outcomes in neonates with congenital heart disease: the era of newer surgical strategies. Congenit Heart Dis. 2012;7(6):544–550. Kayambu G, Boots R, Paratz J. Physical therapy for the critically ill in the ICU: a systematic review and meta-analysis. Crit Care Med. 2013;41(6):1543–1554. Majnemer A, Limperopoulos C, Shevell M, et al. Developmental and

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functional outcomes at school entry in children with congenital heart defects. J Pediatr. 2008;153:55–60. McCusker C.G, Doherty N.N, Molloy B, et al. A controlled trial of early interventions to promote maternal adjustment and development in infants born with severe congenital heart disease. Child Care Health Dev. 2010;36(1):110–117. Newburger J.W, Bellinger D.C. Brain injury in congenital heart disease. Circulation. 2006;113:183–185. Verheugt C.L, Uiterwaal C, Grobbee D.E, Mulder B.J.M. Long-term prognosis of congenital heart defects: a systematic review. Int J Cardiol. 2008;131:25–32.

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SECTION 5

Special Settings and Special Considerations OUTLINE 29. The Neonatal Intensive Care Unit 30. Infants, Toddlers, and Their Families: Early Intervention Services Under IDEA 31. The Educational Environment 32. Transition to Adulthood for Youth With Disabilities 33. Assistive Technology 34. Development and Analysis of Gait

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The Neonatal Intensive Care Unit Beth McManus, Yvette Blanchard, and Stacey Dusing

Providing services to high-risk infants and their families in the neonatal intensive care unit is a complex subspecialty of pediatric physical therapy requiring knowledge and skills beyond the competencies for entry into practice. Newborns in the neonatal intensive care unit (NICU) are among the most fragile patients that physical therapists treat, and therefore practice in the NICU requires a keen understanding of the influence of prematurity and medical fragility on the infant and family. To this end, pediatric physical therapists (PTs) need advanced education in areas such as early fetal and infant development; infant neurobehavior; family responses to having a sick newborn; the environment of the NICU, physiologic assessment, and monitoring; newborn pathologies, interventions, and outcomes; optimal discharge planning; and collaboration with the members of the health care team.161 This chapter describes the neonatal intensive care unit and the role of the physical therapist within this setting. In the Background section we describe conceptual models governing PT practice in the NICU. Next, we review the most common medical complications of the respiratory, neurologic, and gastrointestinal system for infants admitted to the NICU and implications for physical therapy interventions. The Foreground section describes examination and evaluation of infants in the NICU, including tests and measures

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most commonly administered by PTs. The current evidence base for PT interventions in the NICU is presented, including direct interventions (e.g., handling) as well as best practice for posthospital follow-up of NICU infants and their families. Two case scenarios on the Expert Consult apply knowledge to practice.

Background Information Advances in Neonatal Care The NICU is designed to meet the needs of a wide range of infants, from the monitoring of apparently well infants at risk of serious illness to the intensive treatment of infants with acute illness. Since the 1970s the type and range of developmental interventions provided in the NICU for medically fragile infants have changed dramatically. As such, the role of the neonatal physical therapist has evolved tremendously over the last several decades. Two main, yet overlapping, factors have contributed to the evolution of the role of the physical therapist: 1) the evolution of special care nurseries and advances in medical technology in NICU care and 2) a paradigm shift in conceptual frameworks for therapeutic and developmental interventions in the NICU. Dr. Julian Hess is credited with establishing the first special care nursery in the 1940s. At the time the main principles of neonatal care were support of body temperature, control of nosocomial infection, minimal handling, and provision of special nursing care. Interestingly, nurseries were quiet and lights were dimmed at night. Dr. Hess achieved a neonatal mortality rate for preterm infants of 20%, which was respectable for the time.225 In response to the increased survival rate of premature infants reported by Hess, the previously mentioned principles of care were implemented in several areas across the United States.170 The increase in the availability of special care nurseries led to the development of centers for the care of preterm infants during the 1950s. At this time, management of the medically fragile infant involved transport to one of these regional special care nurseries, if available, while the mother of the baby remained at the birthing hospital under the care of her obstetrician.87 By the late 1960s,

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medical advances in microlaboratory techniques for biochemical determinations from minute quantities of blood and the development of miniaturized monitoring equipment, ventilatory support systems, and means to conserve body heat improved the care of the neonate with serious illness. Expansion of neonatal pharmacology, widespread use of phototherapy for management of hyperbilirubinemia, and methods of delivery of high-caloric solutions parenterally when oral feeding was not possible also improved the chances for survival of the very sick neonate.87 Paralleling advances in special care medical technology, in 1975, the emergence of the subspecialties of neonatology and perinatology affirmed the need for practitioners skilled in the care of infants in the high-technology nursery.87 As the field of neonatology and the number of special care nurseries grew, it was evident that separate nurseries with costly medical care were not a sustainable, cost-effective model of care. Rather, there was a need for a system for referrals to regional centers for medically fragile infants.170 In an attempt to improve access to special care and expand regionalization, the National Health Planning Act of 1974 supported assessment of health service needs locally and at the state level, which fostered planning of activities to improve access to care. In particular, three states—Arizona, Massachusetts, and Wisconsin—were at the forefront of promulgating standards for maternity units and developed regional perinatal care centers. These entailed early identification of high-risk pregnancies and allowed for the transfer of the mother to a regional perinatal center prior to delivery. In the 1970s, reports from these three states and several professional organizations, including the American Medical Association, the American College of Obstetricians and Gynecologists, the American Academy of Pediatrics, and the Academy of Family Physicians, stimulated the development of the regional organization of perinatal services.87,170 The March of Dimes report Toward Improving the Outcome of Pregnancy, published in 1976, articulated the concept of regionalized perinatal care with three levels of maternal and neonatal care.69,170 A subsequent report restated the importance of regionalization and recommended changes in designations from levels I, II, and III to basic, specialty, and subspecialty with

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expanded criteria.184 These designations were updated in 200418 and again in 2012 through an AAP policy statement titled Levels of Neonatal Care.18 The three levels of neonatal care and capabilities within levels recommended by the American Academy of Pediatrics are presented in Box 29.1. Although difficult to accurately assess, recent estimates suggest there are approximately 3 NICU beds per 1000 live births across the United States.170 The newborn in the intensive care nursery transitions from the buoyant, warm, enclosed, and relatively quiet and dark environment of the womb to a bright, often noisy, technology filled, gravity-influenced environment and is subjected to procedures that often cause pain and discomfort. The newborn is extremely vulnerable to the environmental effects of the intensive care nursery. Over the last several decades, there has been an increase and an evolution in the research and recommendations to decrease NICU environmental effects and to facilitate the development of the infant in the NICU.

B O X 2 9 . 1 Hospital

Perinatal Care Levels

Level I: Well-Baby Nursery Provide neonatal resuscitation at every delivery. Evaluate and provide postnatal care to stable term newborn infants. Stabilize and provide care for infants born 35–37 wk gestation who remain physiologically stable Stabilize newborn infants who are ill and those born at < 35 wk gestation until transfer to a higher level of care.

Level II: Special Care Nursery Level I capabilities plus: Provide care for infants born ≥ 32 wk gestation and weighing ≥ 1500 g who have physiologic immaturity or who are moderately ill with problems that are expected to resolve rapidly and are not anticipated to

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need subspecialty services on an urgent basis. Provide care for infants convalescing after intensive care. Provide mechanical ventilation for brief duration (< 24 h) or continuous positive airway pressure or both. Stabilize infants born before 32 wk gestation and weighing less than 1500 g until transfer to a neonatal intensive care.

Level III: NICU Level II capabilities plus: Provide sustained life support. Provide comprehensive care for infants born < 32 wk gestation and weighing < 1500 g and infants born at all gestational ages and birth weights with critical illness. Provide prompt and readily available access to a full range of pediatric medical subspecialists, pediatric surgical specialists, pediatric anesthesiologists, and pediatric ophthalmologists. Provide a full range of respiratory support that may include conventional and/or high-frequency ventilation and inhaled nitric oxide. Perform advanced imaging, with interpretation on an urgent basis, including computed tomography, MRI, and echocardiography.

Level IV: Regional NICU Level III capabilities plus: Be located within an institution with the capability to provide surgical repair of complex congenital or acquired conditions. Maintain a full range of pediatric medical subspecialists, pediatric surgical subspecialists, and pediatric anesthesiologists at the site. Facilitate transport and provide outreach education.

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From American Academy of Pediatrics Committee on Fetus and Newborn: Levels of neonatal care. Policy statement. Pediatrics 130:587-597, 2012.

As mentioned previously, the first special care nurseries were dark and quiet environments.1 The prevailing thought was that medically fragile neonates were overly sensitive to external environmental stimulation and that care should be taken to mimic the in-utero environment and limit the infant’s exposure to environmental hazards such as light and sound. However, as the advancement of medical care occurred and opportunities to improve special care for preterm infants emerged, there was a shift toward providing sensory stimulation. Outcomes of preterm infants were still poor compared to their full-term counterparts, and the prevailing thought was that preterm infants experienced sensory deprivation as a result of preterm birth, and the developmental gaps between preterm and full-term infants could be addressed with sensory stimulation programs.169 In the 1980s, concern emerged that the typical nursery stay of several weeks may have detrimental effects on later behavior of the infant born at very low birth weight (less than 1500 g).113 At that time, the neonatal intensive care nursery was characterized by bright lights both night and day, high noise levels, and the intrusive medical procedures characteristic of high-technology treatment.54,98 Research ensued on the effects of different sensory inputs based on the premise that the neonatal care environment may impact development. Optimal care included modulation of the environment to facilitate development, recognition of infant distress and discomfort, and family-centered care.256 As the field of neonatal therapy became more prevalent, psychologists, physical therapists, and occupational therapists took the lead in developing sensory stimulation programs. However, the success of such programs was limited and they did not appear to mitigate the disparities in developmental outcomes between preterm and full-term infants. Thus another paradigm shift occurred. The current conceptual framework supports individualized, developmentally supportive care, where sensory stimulation is matched to the unique needs, strengths, and vulnerabilities of the infant.169,256 During the past three decades, the availability of neonatal intensive care has improved outcomes for high-risk infants,

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including premature infants and those with serious medical or surgical conditions.18 Improved survival for very low birth weight and extremely low birth weight infants has been continuously reported since 1988.87,138,143,237 This improvement in survival is related to antenatal steroids, more aggressive resuscitation in the delivery room, and advanced treatments given in the special care nursery including surfactant therapy.139 A recent March of Dimes report163 suggests that, among the over 180,000 newborns studied, 14% had a neonatal care admission. Of the babies admitted for neonatal care, about half were born preterm (i.e., less than 37 weeks of gestation) and half were full term. Moreover, the study reports an average length of neonatal hospitalization as approximately 13 days.

Prematurity and Low Birth Weight More than 500,000 infants are born prematurely (gestation of less than 37 weeks) in the United States every year.102 Approximately 1% of live births are very preterm with gestational age younger than 32 weeks,269 and 8% of live births (and 74% of all preterm births) are late preterm with gestational age between 34 weeks and 36 6⁄7 weeks.154 Preterm birth is a leading cause of infant mortality and morbidity, accounting for over 70% of neonatal deaths and half of long-term neurologic disabilities such as cerebral palsy, cognitive impairment, and behavioral problems.164,166 The current rate of preterm births in the United States is 12%.102 Infants born prematurely or who are small for gestational age (SGA) are divided into three major categories: low birth weight (LBW), from 1501 to 2500 g; very low birth weight (VLBW), 1000 to 1500 g; and extremely low birth weight (ELBW), less than 1000 g. The causes of preterm birth are not clear but seem to involve an interaction of multiple factors including genetic, social, and environmental factors. Spontaneous preterm delivery and birth have recently been described as a common complex disorder like heart disease, diabetes, and cancer.269 Criteria for complex diseases include family history, recurrence, and racial disparities.102 American black women have 1.5 times the rate of preterm birth and 4 times the rate of infant mortality because of preterm births compared with white women.71 Approximately 40% of premature

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births are believed to be caused by intrauterine or systemic infections or both, which are not diagnosed until the onset of labor.36 Pregnancy-specific stress is associated with smoking, caffeine consumption, and unhealthy eating, and it is inversely correlated with healthy eating, vitamin use, exercise, and gestational age at delivery.153 Finally, infants born after assisted reproduction have a lower birth weight and gestational age when compared to matched controls.158 There has been a significant increase in survival of infants with VLBW and ELBW139 as a result of more aggressive delivery room resuscitation, surfactant therapy, and a decreased rate of sepsis.88,139,271 Approximately half of children surviving extremely low birth weight deliveries have subsequent moderate to severe neurodevelopmental disabilities.139 Brain injury, retinopathy of prematurity, bronchopulmonary dysplasia, and neonatal infection increase the risk of mortality or neurosensory impairment (described later in this chapter).32,164 There is a national focus on preventing preterm birth spearheaded by the March of Dimes National Prematurity Campaign of 2003, recently extended to 2020.163 The Prematurity Research Expansion and Education for Mothers who Deliver Infants Early (PREEMIE) Act (P.L. 109–450) was passed in 2006 with a subsequent Surgeon General’s Conference on the Prevention of Preterm Birth in 2008.177 The conference objectives were to (1) increase awareness of preterm birth in the United States; (2) review key findings on causes, consequences, and prevention of prematurity; and (3) establish an agenda for public and private sectors to address this public health problem. Conference recommendations included (1) increased research in medicine, epidemiology, psychosocial, and behavioral factors relating to prematurity; (2) professional education and training; (3) communication and outreach to the public; (4) addressing racial disparities; and (5) improvement of quality of care and health services.

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Role of the Physical Therapist in the Nicu Newborn medicine changed rapidly with the advent of new drugs and technology. The NICU environment is cutting edge, fast paced, and high stress, but it affords the physical therapist incomparable learning opportunities because of the exceptional range of medical conditions and level of acuity of the infants, numerous exchanges with health care professionals, and the opportunity to have a positive impact on this new family unit. This highly technical subspecialty area offers the opportunity for physical therapists to provide developmental services within a framework that is family centered and that views the infant as fully participating in the development process, principles that are central to pediatric physical therapy practice. Neonates and infants in the NICU require specialized care due to the complexity of their medical conditions, their physiologic, neurologic, and developmental vulnerabilities, and the need to support the family during this stressful experience. Because of this complexity, physical therapists working in the NICU require specialized training through direct guidance from a highly skilled and experienced neonatal physical therapist or fellowship in neonatology. Clinical practice guidelines for physical therapists working in the NICU have been published in a two-part article series.245,246 Part 1 articulates the path to professional competence and describes the clinical competencies for physical therapists, NICU clinical training models, and a clinical decision-making algorithm245; Part 2 presents the evidence-based practice guidelines, recommendations, and theoretical frameworks that support neonatal physical therapy practice.246 The Practice Committee of the Section on Pediatrics of the American Physical Therapy Association has also published a Fact Sheet outlining recommendations for developing expertise in neonatal physical therapy practice (http://www.apta.org/NICU/). These sources clearly articulate that physical therapy practice in the NICU is not for the novice therapist.

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Teamwork in the NICU Similar to other areas of pediatric PT, teamwork and collaboration are a critical aspect of in the NICU practice. Teamwork and collaboration encompass “working together in a cooperative and coordinated way in the interest of a common cause.”185 Indeed, there are a number of medical, therapeutic and developmental, and support professionals working in the NICU. The medical team is principally concerned with infants’ medical care and typically includes neonatologists, neonatal nurse practitioners, registered nurses, respiratory therapists, and registered dietitians. The organization of the medical team varies across institutions. For example, the presence and number of attending neonatologists, fellows, and neonatal nurse practitioners usually vary depending on whether the institution is an academic teaching, children’s, or birthing hospital.28,255 The therapeutic and developmental care teams are principally concerned with providing individualized, developmentally supportive care in the NICU. The developmental team can include physical therapists, occupational therapists, speech and language pathologists, and developmental specialists. Typically, members of the therapeutic and developmental care team will receive physician or neonatal nurse practitioner orders to evaluate and treat infants being cared for in the NICU. These orders may be standing orders (e.g., all babies less than 32 weeks receive therapy services) or infant-specific (e.g., infant with tone abnormalities).28,256 The roles of each developmental professional in the NICU may vary depending on their specialized training and expertise. The role of the physical therapist in the NICU is multifaceted and includes: (1) the screening and examination of infants to determine the need for direct services in the NICU, referral for consultation by other health care professionals, and referral for developmental services postdischarge through early intervention or outpatient therapy services; (2) the design and implementation of individualized and developmentally appropriate interventions adapted to the infant’s physiologic, motor, neurologic and developmental needs; (3) working in collaboration with other health care professionals to meet the needs of the infant and family members; (4) incorporating family members in the provision of care

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to best support the infant’s developmental outcome. More detail about PT examination, evaluation, and intervention is presented later in the chapter. The role of the occupational therapist in the NICU is to foster developmentally appropriate occupations, sensorimotor skills, and neurobehavioral organization. The provision of neonatal occupational therapy services includes: (1) caregiver communication, (2) appropriate use of NICU equipment, (3) administering formal assessment tools, (4) developing individualized developmentally supportive interventions, (5) monitoring the infant’s response to intervention, (6) family collaboration, (7) providing thorough yet concise documentation, and (8) appropriate discharge planning.28,255,256 The role of the speech and language pathologist in the NICU is to assess and provide intervention with infants at risk or who are identified with communication, cognition, feeding, and/or swallowing disorders.20,28,256 The provision of neonatal speech and language therapy services includes: (1) conducting communication, cognition, feeding/swallowing, and neurodevelopmental assessments; (2) conducting instrumental feeding/swallowing evaluation; (3) providing developmentally supportive, familycentered, evidence-based speech therapy interventions; (4) providing education, consultation, and support to NICU families and staff; (5) team and family collaboration and shared decisionmaking; (6) quality improvement and risk management; (7) discharge planning; and (8) participating in research, education and advocacy activities for NICU infants and their families.20 The role of the developmental specialist is to identify the infant’s strengths and vulnerabilities and to: (1) partner with parents to identify and respond contingently to these infant behaviors (e.g., during caregiving episodes); (2) modify the caregiving environment to promote infants’ strengths; and (3) promote optimal parent– infant interaction. The professional discipline and role of the developmental specialist will also vary across institutions and could be a physical, occupational, or speech therapist, registered nurse, or psychologist. Special care nurseries that are affiliated with the Newborn Individualized Developmental Care and Assessment Program (NIDCAP) Federation typically have a developmental

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specialist.28,50,256 In addition to the medical and developmental team members described above, there are a number of additional professionals who play a critical role in supporting families in the NICU. Certified lactation consultants provide breastfeeding support to NICU families, which can include assisting with accessing breast pumps, determining a pumping and breastfeeding schedule, and providing support, guidance, and direct interventions related to increasing maternal milk supply and infant feeding development. Social workers provide emotional support to families in the NICU and assist with accessing resources such as the Supplemental Nutrition Program for Women, Infants, and Children (WIC), Supplemental Nutrition Assistance Program (SNAP), or Medicaid. Finally, discharge planners may be social workers or nurses and their primary role is to assist families as they transition from the NICU. Although roles may vary across institutions, discharge planners help families to access home equipment (e.g., oxygen and feeding pumps), address concerns or problems related to health insurance, and coordinate follow-up services for families (e.g., follow-up specialist or pediatrician appointments).28,256 Given the wide range of professional disciplines and roles represented within the NICU, teamwork and collaboration are essential. A national expert panel was convened to determine the organizational culture and attributes of NICUs that were required for successful collaboration and quality improvement. The following characteristics of NICU were identified: (1) clear, shared purpose, (2) effective communication among team members, (3) management that leads by example, (4) trusting and respectful environment, (5) established standards of excellence, (6) competence and commitment among team members, and (7) commitment to conflict management.185

Models of Service Delivery There is limited published literature to describe the type, frequency, and variability of NICU therapeutic models of service delivery.28 However, models of service delivery commonly seen in pediatric rehabilitation are also applicable to the NICU. For example, in some

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NICUs, the therapeutic and developmental program is represented by only one professional discipline (e.g., physical therapy). In contrast, some NICUs have adopted a multidisciplinary model in which the therapeutic and developmental care team consists of more than one professional discipline (e.g., physical and occupational therapy) (Fig. 29.1). In this model, team members function in distinct but complementary roles.28 For example, occupational therapists might be responsible for splinting, speech therapists address oral feeding development, and physical therapists focus on positioning and therapeutic handling or massage. Thus the determination of which professional discipline will perform the examination and intervention is guided by the infant’s greatest area of need. In our experience the multidisciplinary model of care can foster a targeted use of resources and expertise when a primary infant need (e.g., splinting) is identified. However, as described later in the chapter, infants experience a variety of medical, neurobehavioral, and interactional vulnerabilities that require a multifaceted approach to examination and intervention. As such, a possible limitation to a multidisciplinary approach is that multiple therapists are working with the family, which has the potential to create fragmentation, caregiver burden, and unnecessary handling of fragile infants.

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FIG. 29.1 Multidisciplinary patient care rounds in the

NICU. (From Walden M, Elliott E, Gregurich MS: Delphi Survey of Barriers and Organizational Factors Influencing Nurses’ Participation in Patient Care Rounds. Newborn Infant Nurs Rev 9(3):169-174, 2009.)

To address potential limitations of a multidisciplinary model, a transdisciplinary model of care adopts a comprehensive and holistic view of the infant. As such, the transdisciplinary model requires that team members share professional roles such that the boundaries across disciplines become less distinct.28,51 For example, all therapeutic and developmental care team members are competent in issues related to oral feeding, positioning, and neonatal massage. This model has a number of strengths such as reducing the number of providers handling the infant, allowing for a unified and integrated approach to care where “the role differentiation between disciplines is defined by the needs of the situation rather than by discipline-specific characteristics.”51 However, this amorphous role delineation can be problematic at times if therapists feel like a particular area of NICU intervention (e.g., oral feeding) is the purview of their professional discipline.28 As such, the balance between a transdisciplinary model of care and professional role delineation is critical. In addition to the model of service delivery, there are other important considerations for addressing the needs of infants and families in the NICU. Although therapists in other subspecialties within the hospital typically see 8 to 10 patients per 8-hour day (from 9 AM to 5 PM), physical therapists in the NICU are constrained by frequent medical procedures, strict feeding schedules, evening parental visiting schedules, and infection considerations for patients seen outside of the NICU. As such, the model of service delivery needs to be flexible with regard to productivity demands, work hours, and managing schedules of patients other than those in the NICU. The needs and realities of the rehabilitation department and ensuring equity of responsibility among all therapists are additional considerations.

Professional Role Delineation Depending on NICU staff resources, organizational culture, and

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type of hospital, physical therapists may work closely with occupational therapists, speech language pathologists, and developmental specialists. As such, professional role delineations related to oral feeding, positioning, infant massage, and facilitation and handling may become blurred. According to the APTA, physical therapists are experts in examination and intervention of impairments in body functions and structures and motor activity limitations of the musculoskeletal and neuromuscular system.245 To this end, this expertise may cross traditional professional boundaries, and physical therapists should work collaboratively with colleagues from other disciplines while advocating for the growth of their profession. Indeed, as described in the previous sections, the professional roles of each of the therapeutic and developmental care team members overlap. Yet, a unifying theme is developmentally supportive care.28,256 In our experience, all therapeutic and developmental care team members should be competent in neurobehavioral evaluation and treatment in order to provide family-centered, individualized, developmentally supportive care across different contexts of NICU care (e.g., positioning, routine care, oral feeding, environmental modifications, and parent–infant interaction). Particular team members may choose to pursue advanced clinical practice training in NICU interventions (i.e., infant massage, oral feeding techniques) and can serve as valuable assets to the NICU therapeutic and developmental care team to provide expert consultation when necessary.

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Theoretical Frameworks Guiding Practice in the Nicu Three theoretical frameworks for serving infants in the NICU are family systems, the International Classification of Functioning, Disability and Health (ICF) model, and the synactive theory. Those theoretical frameworks address the three main components of physical therapy intervention: communication and coordination, information sharing with parents, and procedural interventions (for more details, refer to Chapters 1 and 30).

Family Systems Premature birth, followed by the intensity of the experience of the NICU, is highly stressful and sometimes traumatic not only for the baby but also for the parents and the whole family. The NICU experience for parents may vary depending on the severity of the infant’s illness and the level of preparedness parents have prior to the infant’s admission to the NICU.180,256 Although prior knowledge of a possible premature or complicated birth may soften the intensity of the experience at first, all parents of premature infants are particularly vulnerable throughout their infant’s neonatal period. The foremost concern is for survival. Once survival is certain, concern shifts to the quality of the infant’s developmental outcome. The parents themselves can be considered to be “premature parents” and may be mourning the loss of the “imagined” or “wished-for baby” as they struggle to develop a bond with their “real baby.”52,133 Parents report that the NICU experience often leaves them with a temporary loss of their parental role and identity and that at time of discharge they may feel overwhelmed, worried, and even panicked, especially if their infant had required ventilation while in the NICU.209 The phase immediately after discharge from the hospital is often one of anxious adjustment during which mothers express their lack of confidence and insecurity in caring for their preterm infant.199 We encourage physical therapists to reflect on the impact of an early birth or birth of a sick infant on parents, on the sense of temporary

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loss of parental roles and identity, and feeling overwhelmed at time of discharge. The length of stay for infants admitted to the NICU varies widely according to the severity of the condition leading to the admission. Some infants may spend as little as 1 day in the NICU (e.g., due to respiratory distress); others may spend months (e.g., due to extreme prematurity, short gut). Research on parental response to having their newborn admitted to the NICU has been fairly consistent in reporting a high level of parental stress and anxiety, which may lead to a posttraumatic stress reaction (PTSR). PTSR is a predictor of infant sleep and eating problems at 18 months.200 The prevalence of postpartum depression (PPD) in mothers of newborns admitted to the NICU (45%) is higher compared to PPD in first-time mothers of healthy infants (8% to 15%).33 On a more positive note a recent study reported that the implementation of the “parent friendly” changes as seen in most hospitals across the United States contributed to helping parents make a more successful adaptation to having an infant in the NICU.62 Admission of the newborn to the NICU happens at a critical time in the development of the family unit. For the infant, biobehavioral transition from intrauterine to extrauterine life occurs in the first months of life.180 For the parents, the first months are a time when they search for “the goodness of fit” between themselves and their new baby.249 The core challenge for parents is to engage with their baby in a way that is unique to them and fosters the baby’s development.234 Many factors may render the relationship between parents and their premature infant vulnerable. Premature infants have poor abilities to self-regulate physiologic rhythms, and attention is limited, which can disrupt the parent–infant synchrony so critical during interactive episodes.89 Preterm infants are more irritable, smile less, and have facial signals that are less clear than full-term infants,229 all of which affect the parents’ ability to read and respond to their infant’s cues.89 Steinberg contended that posttraumatic stress reaction and depression interfere with the parents’ ability to read their baby’s cues and respond sensitively to the baby’s needs.233 Nevertheless, a number of studies have demonstrated that during this difficult hospital time, helping parents understand their baby’s behavior appears to be critical in

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helping them maintain their role as parents and mitigate levels of stress.141,156,210 Physical therapists, with their unique skills in infant behavioral observation and developmental intervention, play an important role in the support offered parents during this difficult time. The physical therapist can help the parents read their baby’s cues and provide feedback on their baby’s responses. Several studies have reported long-term effects ranging from 9 months to 2 years of behaviorally based interventions on infant development, parent– infant interaction, maternal confidence and self-esteem, and paternal attitudes toward and involvement in caregiving.73,97,192,208 Primarily derived from the Neonatal Behavioral Assessment Scale (NBAS) (described later in the chapter), behaviorally based intervention tools that have been developed to promote parent and child outcomes are summarized in Table 29.1 and may be useful resources of therapists working in the NICU.

Family-Centered Care Family-centered care (FCC) was first defined in 1987 as part of former surgeon general Everett Koop’s initiative for familycentered, community-based, coordinated care for children with special health care needs and their families. The American Academy of Pediatrics (AAP) recognizes the importance of FCC as an approach to health care178 and stresses the importance of the role that families play in patient outcomes.160 At the heart of familycentered care is the recognition that the family is the constant in a child’s life. For this reason, family-centered care is built on partnerships between families and professionals. The Institute for Family-Centered Care has identified eight core concepts of FCC that guide the delivery of services to families with children with health care needs: (1) respect, (2) choice, (3) information, (4) collaboration, (5) strengths, (6) support, (7) empowerment, and (8) flexibility (www.familycenteredcare.org). TABLE 29.1 Needs of Parents Who Have Infants in the NICU and the Types of Support That Are Most Helpful

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Needs of Parents Accurate information Contact with the infant Inclusion in the infant’s care Vigilant watching-over and protecting the infant Being positively perceived by the nursery staff Individualized care A therapeutic relationship with the nursing staff

Behaviors That Support Parents Emotional support Parent empowerment A welcoming environment with supportive unit policies Parent education with an opportunity to practice new skills through guided participation

From Cleveland LM: Parenting in the neonatal intensive care unit. J Obstet Gynecol Neonatal Nurs 37:666-691, 2008.

Many medical institutions and NICUs across the country have instituted their own FCC guidelines and practices, but for the most part they all share the pursuit of being responsive to the priorities and choices of families. Cleveland published a systematic review of the literature to identify the needs of parents in the NICU and the type of nursing support most helpful during their stay in the NICU (see Table 29.1).66 Parents need accurate information, to have contact with their infant, and to be fully included in their infant’s care. Individualized care and knowing that the NICU staff is watching over and protecting their infant is also important to parents. The types of behaviors that best support parents in the NICU are those where they feel welcome at all times, are encouraged to participate in their child’s care, and are engaged in a therapeutic relationship with the nursing staff. Parent-to-parent groups provide families with additional emotional support.66,83 Parents report a preference for multiple presentations of different formats including hands on, written, and group sessions to learn how to support their infant’s development as they prepare for NICU discharge.83 The physical therapist can consider these recommendations in the implementation of family-centered interventions in the NICU. Readers are encouraged to reflect on the multiple ways physical therapists can support families of infants in the NICU.

International Classification of Functioning, Disability and Health The International Classification of Functioning, Disability and

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Health, commonly referred to as the ICF, is a framework for understanding relationships between health and disability at both individual and population levels that is described in Chapter 1.274 The ICF was developed to create a common language to improve communication among health care providers, researchers, policy makers, and people with disabilities and to provide a scientific basis for understanding and studying health and health-related states, outcomes, and determinants.189 The health-related domains are classified from body, individual, and societal perspectives by means of two lists: a list of body functions and structures and a list of domains of activity and participation. Because an individual’s functioning and disability occur in a context, the ICF also includes a list of environmental and personal factors (for more information, see www.who.int/classifications/icf/en). The ICF provides a framework to guide the choice of examination procedures and intervention strategies for infants receiving services in the NICU. High-risk neonates frequently demonstrate impairments in muscle tone, range of motion, sensory organization, and postural reactions. These impairments in body functions and structures may contribute to limitations in activity such as difficulty in breathing, feeding, visual and auditory responsiveness, and motor activities such as head control and movement of hands to mouth. The interaction between impairments and activity limitations may contribute to restrictions in parent–infant interaction (participation). The ICF model also considers personal and environmental factors as relevant influences on body functions and structures, activity, and participation. Personal factors include an infant’s health complications and temperament. Environmental factors range from levels of lighting and noise in the special care nursery to family and community support such as appropriate shelter and access to necessary food and supplies that will directly influence the infant’s outcome and well-being (Table 29.2 shows an example of the ICF model adapted for the infant in the NICU).

Synactive Theory Since the late 1980s, advances in perinatal and newborn intensive care have dramatically decreased the mortality rates of preterm and

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sick newborns at high risk for developmental problems. As premature infants have become younger in gestational age at birth (as young as 23 weeks of gestation) and smaller in birth weight (as little as 450 g), there has been a growing concern among health care professionals to not only ensure their survival but to optimize their developmental course and outcome. Better known as developmental care, the intervention model designed to address these issues focuses on the detailed observation of infant neurobehavioral functioning to design highly individualized plans of care and provide developmentally appropriate experiential opportunities for the newborn in the hospital setting and the provision of supportive care for the infant’s family.12 Recent research suggests that individualized developmental care may improve some medical complications and short-term outcomes such as length of stay, level of alertness, and feeding progression.167,196 Als’s synactive theory provides a framework for the neurobehavioral functioning of the young infant.5 Infant neurobehavioral functioning is understood as the unfolding of sequential achievements in four interdependent behavioral dimensions organized as subsystems.5 The infant (1) stabilizes her autonomic or physiologic behavior, (2) regulates or controls her motor behavior, (3) organizes her behavioral states and her responsiveness through interaction with her social and physical environment, and (4) orients to animate and inanimate objects. Through maturation and experience, the infant is able to organize her behavior subsystems and actively participate in her social world including interactions with caregivers to meet her needs.5,48 Competency in behavioral organization can be determined through the careful observation of the behaviors displayed by the infant within each of the behavioral dimensions. Als has categorized behaviors within each of the behavioral dimensions as either “approach/regulatory” or “avoidance/stress.”5 Regulatory behaviors indicate a state of well-being and are observed when an infant’s self-regulatory abilities are able to support the social and environmental demands placed on her; she is then described as organized.72 Stress behaviors indicate a state of exhaustion and are observed when the infant’s threshold for self-regulation is exceeded

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by the demands placed on her; she is then described as disorganized.72 The application of neurobehavioral observations to clinical practice has been formalized with the Newborn Individualized Developmental Care and Assessment Program (NIDCAP).8,9 The NIDCAP proposes a structured method of weekly observation and assessment of infant behavior by a NIDCAP-certified developmental specialist or physical therapist. Based on these observations and following consultations with the infant’s family and medical team, an individualized care plan is developed and implemented. Intervention is aimed at facilitating prolonged periods of organization by reinforcing the infant’s individual selfregulatory style while supporting families to nurture and care for their infant.11,12,42 Research indicates that the NIDCAP is associated with reduced length of hospital stay and incidence of brain hemorrhage and improved long-term medical and developmental outcomes.8,12,167

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Medical Complications of Infants Admitted to the Nicu Knowledge of medical complications common in infants admitted to the NICU is important for understanding how health conditions may affect the infant’s capacity for handling and physical activity, growth and development, and the parents’ experience in the NICU.

Respiratory System Several pulmonary, neurologic, cardiac, and other health conditions in neonates are associated with increased risk for impairments in body functions and structures that affect cognitive, motor, sensory, behavioral, and psychosocial development and may result in longterm activity limitations and participation restrictions.139 The physical therapist providing services in the NICU should have a working knowledge of physiology of neonates, pathophysiology and associated impairments in body functions and structures, and how impairments affect the infant’s behavior. Practice in the NICU is a complex subspecialty of pediatrics, and knowledge and skills should be obtained through advanced didactic and practical education. Clinical guidelines and clinical training models for neonatal physical therapy are outlined by Sweeney, Heriza, and Blanchard245 and are described later in the chapter. TABLE 29.2 Application of the International Classification of Functioning, Disability, and Health for Infants in the Neonatal Intensive Care Unit Health Condition (Includes disease or injury) Examples: prematurity, respiratory distress, intraventricular hemorrhage, periventricular leukomalacia, arthrogryposis, spina bifida, failure to thrive, short gut, Down syndrome Body Functions and Structures Physiologic and Psychological Functions of Body Systems Examples: muscle tone, postural reactions, range of motion, sensory

Activities Execution of a Task or Action by an Individual Examples: breathing, sucking, crying, head

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Participation Individual’s Involvement in NICU Life Situations Examples: parent-infant interaction, communication,

organization, behavioral state control, neurobehavioral functioning, physiologic stability↓

being held by parents, feeding, sleeping, growing↓

Impairments

control, hand to mouth, kicking, grasping, visual and auditory responsiveness↓ Activity Limitations

Examples: skeletal deformity, fluctuating tone, startles, deafness, decreased range of motion, behavioral disorganization

Examples: cannot breathe on own, tube fed, cannot locate sound, self-calm, brings hand to mouth

Examples: cannot be held or fed by parents because of the inability to maintain physiologic stability and neurobehavioral organization

Environmental Factors Physical, Social, and Attitudinal Features of the Family and NICU Setting Examples: lighting and noise levels, maternity leave, family support, family’s distance to travel to hospital, siblings

Participation Restrictions

Personal Factors Personal Characteristics of the Individual Examples: medical complications, temperament, sensitivity, preferences

Respiratory Distress Syndrome Respiratory distress syndrome (RDS), or hyaline membrane disease, is the single most important cause of illness and death in preterm infants and is the most common single cause of respiratory distress in neonates (Fig. 29.2).236 RDS occurs in 10% of all premature infants in the United States. The percentage increases to 50% to 60% for infants born less than 29 weeks of gestational age.19,65 The principal factors in the pathophysiology of RDS are pulmonary immaturity and low production of surfactant. Low surfactant production results in increased surface tension, alveolar collapse, diffuse atelectasis, and decreased lung compliance. These factors cause an increase in pulmonary artery pressure that leads to extrapulmonary right-to-left shunting of blood and ventilation-perfusion mismatching. Clinical manifestations of RDS include grunting respirations, retractions, nasal flaring, cyanosis, and increased oxygen requirement after birth. Prophylactic use of antenatal steroids to accelerate lung maturation in women with preterm labor of up to 34 weeks significantly reduced the incidence of RDS and decreased mortality.65 Treatment goals for RDS include improvement in oxygenation and maintaining optimal lung volume.65 The type of intervention depends on the severity of the respiratory disorder and includes oxygen supplementation, assisted ventilation, surfactant administration, and extracorporeal membrane oxygenation

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(ECMO). Continuous positive airway pressure (CPAP) or positive end-expiratory pressure (PEEP) is applied to prevent volume loss during expiration. Nasal and nasopharyngeal prongs are used with positive end-expiratory pressure ventilators. Mechanical ventilation via tracheal tube is used in severe cases of RDS. (See Chapter 25 for a more detailed description of ventilators.) Mechanical ventilation may injure the lungs of premature infants through high airway pressure (barotrauma), large gas volumes (volutrauma), alveolar collapse and refill (atelectotrauma), and increased inflammation (biotrauma).24 The new generation of ventilators is equipped with microprocessors enabling effective synchronized (patient-triggered) ventilation.130 High-frequency oscillatory ventilation (HFOV) was developed with the goal of decreasing complications associated with mechanical ventilation. Conventional intermittent positivepressure ventilation is provided 30 to 80 breaths per minute, whereas HFOV provides “breaths” at 10 to 15 cycles per second or 600 to 900 per minute. At this time, evidence is insufficient to support the routine use of HFOV.110 Prophylactic use of surfactant for infants judged to be at risk of developing RDS (infants less than 30 to 32 weeks of gestation) has been demonstrated to decrease the risk of pneumothorax, pulmonary interstitial emphysema, and mortality.236 Early administration of multiple doses of natural or synthetic surfactant extract results in improved clinical outcome and appears to be the most effective method of administration. When a choice of natural or synthetic surfactant is available, natural surfactant shows greater early decrease in requirement for ventilatory support.228,277 Newer synthetic surfactants include whole surfactant proteins or parts of the proteins (peptides). A clinical trial showed that these preparations decreased mortality and rates of necrotizing enterocolitis with other clinical outcomes being similar to those of natural surfactant preparations.204 A pilot study showed that an inhaled steroid, budesonide, delivered intratracheally with surfactant administration to very low birth weight infants with severe RDS reduced mortality and chronic lung disease with no immediate adverse effects.276

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FIG. 29.2 Neonatal respiratory distress syndrome

(RDS) (From Kierszenbaum TL: Histology and cell biology: an introduction to pathology. 4th ed. Philadelphia: Saunders, 2016.)

ECMO is a technique of cardiopulmonary bypass modified from techniques developed for open-heart surgery that are used to support heart and lung function (for review of ECMO and implications for pediatric physical therapy, see193). In newborns with acute respiratory failure, the immature lungs are allowed to rest and recover to avoid the damaging effects of mechanical ventilation. Because of the need for systemic administration of heparin and the resultant risk of systemic and intracranial hemorrhage, ECMO is reserved for use with infants who are at least 34 weeks of gestational age, weigh more than 2000 g, have no evidence of intracranial bleeding, require less than 10 days of assisted ventilation, and have reversible lung disease.240 ECMO is contraindicated for infants younger than 34 weeks of age because of high rates of intracranial hemorrhage, perhaps because of systemic anticoagulation necessary with ECMO or abnormal cerebrovascular pressures and flows accompanying ECMO. ECMO is used to manage intractable hypoxemia in near-term infants and newborns with meconium aspiration, RDS, pneumonia sepsis, and congenital diaphragmatic hernia.65 Although prognosis of infants with RDS is related to the severity

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of the original disease, the cause of infant mortality is most often complications of extreme prematurity such as infections, necrotizing enterocolitis, and intracranial hemorrhage rather than acute respiratory failure.130 Infants who do not require assisted ventilation recover without developmental or medical sequelae, but the clinical course of the very immature infant may be complicated by air leaks in the lungs and BPD. Infants who survive severe RDS often require frequent hospitalization for upper respiratory tract infections and have an increased incidence of neurologic sequelae.116 Technologies for management of RDS include inhalation of nitrous oxide, liquid ventilation, or a hybrid of liquid and gas ventilation. The rationale for using liquid ventilation is to decrease alveolar surface tension by eliminating the air-liquid interface by filling the alveolus with liquid.65 Inhalation of nitrous oxide helps decrease pulmonary artery resistance and cytokine-induced lung inflammation and increase gas exchange. Findings regarding the use of nitrous oxide (NO) and prevention of chronic lung disease and neurologic injury are inconclusive.22 Inhaled nitric oxide for severe RDS is an experimental treatment that may decrease chronic lung disease and mortality. However, increase in intracranial hemorrhage caused a termination of a study in 2006.114

Bronchopulmonary Dysplasia and Chronic Lung Disease of Infancy Very premature birth occurs during a stage of parenchymal development when oxygenation without support is not always feasible,25 leading to the need for supplemental oxygenation and/or mechanical ventilation support. As a consequence, many preterm infants develop bronchopulmonary dysplasia (BPD) and are later diagnosed with chronic lung disease (CLD) of infancy. The major predictors of BPD are lower gestational age and mechanical ventilation on day 7; however, the ability to identify infants at risk for BPD is imperfect at best.123,243 The National Institute of Child Health and Human Development defines infants with mild BPD as requiring oxygen supplementation for 28 days but in room air at 36 weeks postmenstrual age (PMA), those with moderate BPD as requiring oxygen for first 28 days and oxygen < 30% at 36 weeks

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PMA, and those with severe BPD as requiring oxygen the first 28 days and oxygen > 30% and ventilatory support at 36 PMA.124,239 Stoll and colleagues report rates of mild BPD as 27%, moderate as 23%, and severe as 18% in a cohort of 9575 infants born between 2003 and 2007.239 The incidence of BPD increases as birth weight decreases, and infants with birth weights < 1250g constitute 97% of the population of infants with this condition.262 CLD is diagnosed at 36 weeks of postmenstrual age if there is a continued need for supplemental oxygen, abnormal physical examination, and abnormal chest radiograph. The cause of BPD is multifactorial but is primarily related to very premature birth and lung injury secondary to the ventilation and oxygen support provided to sustain these very premature infants.25 The relationship between chorioamnionitis (antenatal infection) and BPD is unclear but may influence the infant’s response to surfactant treatment.123 Findings by Balinotti and his colleagues suggest that abnormal growth and development of the lung parenchyma occur even in clinically stable infants and toddlers with mild lung disease, and the degree of lung parenchyma development and gestational age at birth may be relevant factors in later alveolar development.25 The lung tissue at 24 to 26 weeks is in the late canalicular stage of development and in the saccular stage between 30 to 32 weeks. During these phases, lung growth is marked with extensive vasculogenesis within the developing terminal saccules that then form secondary crests along with interstitial extracellular matrix loss and remodeling. Although alveoli are present in some infants at 32 weeks of gestation, they are not uniformly present until 36 weeks, during the alveolar stage of development. Thus premature birth and initiation of pulmonary gas exchange interrupts normal alveolar and distal vascular development.68 The consistent lesion seen in BPD is alveolar simplification (decrease in alveolization) and enlargement, which results from an impairment, not an arrest, in postnatal alveolization in an extremely immature lung following preterm birth, an abnormal capillary morphology, and an interstitium with variable cellularity/fibrloproliferation.67,68 Because BPD is an evolving process of lung injury and recovery, the pathophysiology is likely to differ at different times.262 Walsh and his colleagues propose three stages in the progression of BPD

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to guide the implementation of specific therapeutic modalities. Stage 1 is for the prevention of BPD and occurs during the perinatal (before birth and up to 4 days of age) and early postnatal (up to 7 days of age); stage 2 constitutes the phase of treatment of evolving BPD beginning at 7 to 14 days of age; stage 3 is for the treatment of established BPD beginning at 28 days of life. In stage 1 inflammation is the predominant issue needed to be addressed with anti-inflammatory treatments (e.g., antenatal corticosteroids, antioxidant therapies). In stage 2 the goal is to stop or minimize the development of the disease with therapies directed at controlling inflammation and lung water with systemic or inhaled corticosteroids, anti-inflammatory agents, and diuretics. In stage 3, where BPD is established, issues are related to overly reactive airways, lung fluid retention, and an oxygenation defect. Jobe advocates efforts to decrease the invasive nature of NICU care in general while empowering the premature infant to breathe spontaneously and grow.123

Meconium Aspiration Syndrome Meconium aspiration syndrome (MAS) is defined as respiratory distress in an infant born through meconium-stained amniotic fluid whose symptoms cannot be otherwise explained.87 It can be characterized by early-onset respiratory distress in term and nearterm infants with symptoms of respiratory distress, poor lung compliance, and hypoxemia and radiographic findings of hyperinflation and patchy opacifications with rales and rhonchi on auscultation.268 Because of the frequent occurrence of air leaks in these infants, positive-pressure ventilation is contraindicated. It is unclear whether the meconium itself causes pneumonitis severe enough to lead to the above symptoms or if the presence of meconium in the amniotic fluid is a result of other events such as stressed labor, postmaturity, and depressed cord pH that may have predisposed the fetus to severe pulmonary disease.65 It is recommended that the infant with depressed physiologic function and meconium-stained fluid be suctioned endotracheally because pharyngeal suctioning does not reduce MAS.251 Antibiotics are often given until bacterial infection is ruled out. The infant is hypersensitive to environmental stimuli and should be treated in

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the quietest environment possible. According to a Cochrane review in 2014, surfactant administration may reduce the severity of MAS and decrease the number of infants requiring ECMO.85,224 Obstetric approaches to the prevention of MAS such as intrapartum surveillance, amnioinfusion, and delivery room management have not demonstrated a decrease in MAS.275 Approximately 20% of infants with MAS demonstrated neurodevelopmental delays up to 3 years of age even though they responded well to conventional treatment.34

Cardiac System Cardiac conditions common to neonates in the NICU include congenital heart defects such as patent ductus arteriosis (PDA), pulmonary atresia, tetralogy of Fallot (TOF), coarctation of the aorta (COA), and pulmonary atresia. Cardiac conditions are presented in Chapter 28.

Neurologic System Intraventricular Hemorrhage and Periventricular Hemorrhage Intraventricular hemorrhage (IVH) occurs in about 45% of infants with birth weights between 500–750 g and in about 20% of infants with birth weights < 1500 g.121,270 Despite medical advances, IVH remains a major problem for the premature infant. Most hemorrhages occur within the first 48 hours after birth and are related to the fragility of the germinal matrix located on the head of the caudate nucleus and underneath the ventricular ependymal.26 When the hemorrhage is substantial, the ependymal breaks and the blood spills into the ventricles.26 Diagnosis is based on routine or symptom-driven screening through cranial ultrasound. Papile developed a four-level grading scale based on ultrasound scan to classify hemorrhages.190 Grade I is a hemorrhage isolated to the germinal matrix; grade II is an IVH with normal-sized ventricles that occurs when hemorrhage in the subependymal germinal matrix ruptures through the ependyma into the lateral ventricles; grade III is an IVH with acute ventricular dilation; and, grade IV is

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a hemorrhage that spreads into the periventricular white matter. IVH is primarily associated with the fragility of the germinal matrix vasculature, disturbances in the cerebral blood flow (CBF), and platelet and coagulation disorders.26 Risk factors that can disturb CBF include vaginal delivery, low Apgar score, severe respiratory distress syndrome, pneumothorax, hypoxia, hypercapnia, seizures, patent ductus arteriosus, thrombocytopenia, infection,26 and mechanical ventilation.16 The signs and symptoms of IVH may range from subtle and nonspecific to catastrophic. Clinical signs include abnormalities in the level of consciousness, movement, muscle tone, respiration, and eye movement. Catastrophic deterioration involves major acute hemorrhages with clinical signs of stupor progressing to coma, respiratory distress progressing to apnea, generalized tonic seizures, decerebrate posturing, generalized tonic seizure, and flaccid quadriparesis.26 Premature infants with grade I–II IVH are at risk for neurosensory impairment, developmental delay, cerebral palsy, and deafness at 2–3 years of age44; for those with more severe IVH, especially grade IV, the risk for cerebral palsy can be present in up to 39% of infants, hydrocephalus in up to 37% of infants with declines in cognitive functioning from a mental developmental index of 97 for grade I to 77.5 for grade IV.206 Clearly, the occurrence of IVH in the premature infant has lifelong implications, even for those with lower-grade hemorrhages. Efforts to prevent IVH directed at strengthening the germinal matrix vasculature with angiogenic inhibitors and stabilizing the CBF through the reduction of stimulation to the infants have met with varying degrees of success.27 Prenatal care aiming at reducing premature birth includes preventive obstetric care for high-risk pregnancy, treatment of bacterial vaginosis, and prevention of preterm labor.165 The use of antenatal steroids (betamethasone, dexamethasone) has been shown to reduce both the severity and incidence of severe IVH.63 Indomethacin, commonly used to close patent ductus arteriosus, has been shown to prevent IVH as well.27 Interventions following IVH include close monitoring and management of ventricular dilation. Acute treatment includes physiologic support to maintain oxygenation, perfusion, body

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temperature, and blood glucose level. Physical handling is minimized. Management of ventricular dilation includes ventriculoperitoneal shunting or temporary ventricular draining.

Periventricular Leukomalacia Periventricular leukomalacia (PVL) is a form of cerebral white matter injury consisting of periventricular focal necrosis, with subsequent cystic formation and diffuse cerebral gliosis in the surrounding white matter.21,260 It is the leading known cause of cerebral palsy (CP) and commonly associated with cognitive impairment and visual disturbances.260 It is more common in premature than term infants and occurs more frequently with decreasing gestational age and birth weight.76 The pathogenesis of PVL is mainly linked to ischemia and inflammation in the preterm infant131 and may occur with intraventricular and periventricular hemorrhage.2 A case-control study conducted to examine the impact of potential risk factors other than prematurity on the incidence of PVL identified maternal obesity and chorioamnionitis as the only factors associated with PVL regardless of gestational age. Maternal age (> 35), preexisting and gestational diabetes, in vitro fertilization, severe preeclampsia, no prenatal steroids, vaginal delivery, and small for gestational age were not associated with PVL.111 PVL is caused by a cascade of events leading to a reduction in cerebral blood flow in the highly vulnerable periventricular region of the brain where the arterial “end zones” of the middle, posterior, and anterior cerebral arteries meet and is often associated with IVH.260 Decreased cerebral blood flow leads to ischemia and a decrease in antioxidants. The resulting release of free oxygen radicals and glutamate toxicity primarily target premyelinated oligodendrocytes that predominate in the periventricular regions between 24–34 weeks of gestation.126 The incidence of white matter damage increased in premature infants with decreased gestational age due to the added presence of an immature vascular supply and impairments in cerebral autoregulation.132,260 PVL also affects subplate neurons that lie just below the developing cerebral cortex until programmed apoptosis (cell death). Subplate neurons play an essential role in axonal targeting of thalamocortical synapses, and

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their loss may contribute to motor, visual, and cognitive impairments.76 The area primarily affected by intraventricular or periventricular hemorrhaging includes the white matter through which long descending motor tracts travel from the motor cortex to the spinal cord. Because the motor tracts involved in the control of leg movements are closest to the ventricles and therefore more likely to be damaged, bilateral cerebral palsy with primary lower extremity involvement is the most common motor impairment. If the lesion extends laterally, the arms may be involved, resulting in bilateral cerebral palsy with both upper extremity and lower extremity involvement. Visual impairments may also result from damage to the optic radiations.272 Cranial ultrasonography (CUS) after birth is commonly used for routine screening of hemorrhaging lesions; later, CUS allows diagnosis of white matter abnormalities such as seen in PVL,215 which can later be confirmed with magnetic resonance imaging. Later detection at or around term age of white matter abnormalities has the highest correlation with neuropathologic findings and subsequent neurodevelopmental outcome (cerebral palsy and cognitive impairments). Cerebral palsy occurs in more than 90% of infants who develop bilateral cysts larger than 3 mm in diameter in the parietal or occipital areas.75 Medical management focuses on prevention of events leading to decreased cerebral blood flow and IVH and includes prevention of intrauterine hypoxic or ischemic events, postnatal maintenance of adequate ventilation and perfusion, avoidance of systemic hypotension, and control of seizures.260 Prevention of intrauterine hypoxic and ischemic events includes identification of high-risk pregnancies, fetal monitoring, fetal blood sampling, and cesarean section as indicated. Maintenance of adequate ventilation includes avoiding common causes of hypoxemia such as inappropriate feeding, inserting or removing ventilator connections, painful procedures and examinations, handling, and excessive noise. Adequate perfusion can be maintained with appropriate treatment if the infant exhibits apnea and severe bradycardia.

Hypoxic Ischemic Encephalopathy

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Hypoxic ischemic encephalopathy (HIE) is the result of either hypoxemia or ischemia leading to the deprivation of oxygen and glucose to the neural tissue. Hypoxemia is a decrease in the amount of oxygen circulating in the blood while ischemia is a decrease in the blood flow able to perfuse the brain. Of the two, ischemia is the more problematic because delivery of glucose to the brain is decreased.257 HIE is a type of neonatal encephalopathy diagnosed in infants who present with fetal abnormalities (fetal heart rate abnormalities, fetal distress), an acute event followed by a characteristic clinical presentation (respiratory depression, abnormalities of tone, disturbance in cranial nerve function, and often, seizures), an arterial blood gas indicative of metabolic acidosis (pH < 7.0), depressed Apgar scores (≤ 5 at 5 and/or 10 minutes, need for respiratory support), and imaging findings consistent with hypoxic-ischemic disease.259 Symptoms typically evolve over of period of 72 hours after birth. Ischemia appears to be the main cause of the brain lesions seen in HIE, typically located in the distribution of vascular end zones and border zones and involving neurons and premyelinating oligodendrocytes that are intrinsically vulnerable (e.g., to excitoxicity).260 The presence of hypoxia and ischemia leads to cellular energy failure, acidosis, glutamate release, intracellular accumulation of calcium, lipid peroxidation, and nitric oxide neurotoxicity, which in turn leads to the destruction of essential components of the cell, culminating in cell death.257 The extent of the damage will be consistent with the timing, severity, and duration of the hypoxic-ischemic event leading to necrosis and neuronal cell death in the affected zones. The incidence of HIE ranges between 1 and 8 per 1000 live births.137 Causes of HIE are multiple and can occur from maternal (e.g., hypotension, insulin-dependent diabetes mellitus, cardiac arrest), uteroplacental (e.g., placental vasculopathy), intrapartum (e.g., prolapsed cord, abruption placentae, traumatic delivery with asphyxia), or fetal complications.147 The Sarnat and Sarnat216 staging of encephalopathy using clinical and electroencephalogram criteria, with classification into mild, moderate, and severe stages has been a useful tool in documenting the clinical progression of the severity of the injury and correlates well with neurodevelopmental impairment in infancy.222 Predictors of neurologic and

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developmental outcome include abnormal neurologic examination, neonatal seizures, abnormal EEG and MRI with seizures highly correlated with poor developmental outcome at 1 year of age.95 Neurodevelopmental outcome depends on the severity and extent of the cerebral lesions and is often profound and multisensorial. Treatment of neonatal HIE includes the provision of adequate perfusion, ventilation, and oxygenation with control of seizures if present.257 Whole body hypothermia to a target temperature of 33– 34°C for 72 hours has been shown to reduce death or morbidity222 but has not shown to completely resolve the adverse effects of HIE. Hypothermia is instituted within the first 6 hours of age to be most effective. The infant is placed on a precooled blanket and an esophageal temperature probe is inserted through the nose to a level of T6-9 to monitor body temperature for 72 hours.257 Other neuroprotective interventions being studied include oxygen free radical scavengers and excitatory amino acid antagonists such as allopurinol and glutamate receptor antagonists.257 There is a 10% risk of death with moderate HIE, and up to 30% of infants manifest bilateral cerebral palsy with upper and lower extremity involvement and cognitive impairment resulting from cortical and subcortical injury in a parasagittal distribution.260 In moderate HIE, the infant’s initial clinical presentation includes lethargy, moderate feeding problems, high tone, and seizures. In severe HIE, mortality is 60% and the majority of all survivors will have long-term morbidity associated with damage to the thalami, basal ganglia, hippocampi, and mesencephalic structures. Longterm sequelae include cognitive impairment, spastic quadriparesis, seizure disorder, ataxia, bulbar and pseudobulbar palsy, atonic quadriparesis, hyperactivity, and impaired attention. The initial clinical presentation of the infant with severe HIE includes coma, ventilation support, severe feeding problems, flaccid tone, and seizures.216

Pain Pain is defined as an unpleasant sensory and emotional experience associated with actual or potential tissue damage and is best described by self-report.105 Obviously the neonate cannot report on pain but may express pain through specific pain behaviors,

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physiologic changes, changes in cerebral blood flow, and cellular and molecular changes in pain-processing pathways. Adverse sequelae may “include death, poor neurologic outcomes, abnormal somatization and response to pain later in life.”105 The peripheral nervous system is capable of responding to stimuli by 20 weeks postconception. Both the number and types of peripheral receptors are similar to those of adults by 20 to 24 weeks of gestation with a resulting increased density of receptors in the newborn as compared with adult. Spinal cord and brain stem tracts are not fully myelinated; therefore central nerve conduction is slow. There is evidence that pain pathways, cortical and subcortical centers of pain perception, and neurochemical systems associated with pain transmission are functional in premature neonates of 20 to 24 weeks of gestational age.92 Most nociceptive impulses are transmitted by nonmyelinated C fibers but also by A delta and A beta fibers, which transmit light touch and proprioception in adults.105 However, the pain modulatory tracts, which can inhibit pain through release of inhibitory neurotransmitters such as serotonin, dopamine, and norepinephrine, are not developed until 36 to 40 weeks of gestation. As a consequence, the preterm infant is more sensitive to pain than term or older infants.105,235 Painful stimuli resulting from medical conditions and medical procedures (such as heel sticks, intubation, ventilation, ocular exam, and IV placement) can lead to prolonged structural and functional alterations in pain pathways that may persist into adult life.39,92 The infant also may associate touch with painful input, which can interfere with bonding and attachment. Although it is difficult to assess pain in the neonate, the physical therapist working in the NICU should be aware of methods of examination and nonpharmacologic intervention to alleviate pain. Both physiologic and behavioral responses of the neonate to nociceptive or painful stimuli have been identified. Physiologic manifestations of pain include increased heart rate, heart rate variability, blood pressure, and respirations, with evidence of decreased oxygenation. Skin color and character include pallor or flushing, diaphoresis, and palmar sweating. Other indicators of pain are increased muscle tone, dilated pupils, and laboratory evidence of metabolic or endocrine changes.207 Neonatal behavioral

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responses to nociceptive input include sustained and intense crying; facial expression of grimaces, furrowed brow, quivering chin, or eyes tightly closed; motor behavior such as limb withdrawal, thrashing, rigidity, flaccidity, fist clenching, finger splaying, and limb extension; and changes in behavioral state.104 Pain may lead to poor nutritional intake, delayed wound healing, impaired mobility, sleep disturbances, withdrawal, irritability, and other developmental regression.261 Nonpharmacologic methods to alleviate pain include decreasing the number of noxious stimuli, decreasing stimulation, swaddling, nonnutritive sucking, tactile comfort measures, rocking, containment, and music.261 Preterm neonates demonstrated a lower mean heart rate, shorter crying time, and shorter mean sleep disruption after heel stick with facilitated tucking (containing the infant with hands softly holding the infant’s extremities in soft flexion) than without (Fig. 29.3).70,265 Administration of breast milk, sucrose solution, and nonnutritive sucking may help decrease the pain response in newborn infants.142,220 Sensorial stimulation, which includes subtle tactile, vestibular, gustative, olfactory, auditory, and visual modalities, was found to be effective in decreasing pain responses of premature infants receiving heel sticks.35

Other Complications Gastroesophageal Reflux Two thirds of otherwise healthy infants will have gastroesophageal reflux (GER) and seek advice from their pediatricians or other health care providers.148 GER is defined as the passage of gastric contents into the esophagus and is distinguished from gastroesophageal reflux disease (GERD), which includes troublesome symptoms or complications associated with GER. GERD is far less common that GER.254 GER, considered a normal physiologic process that occurs several times a day in infants, children, and adults, is generally associated with transient relaxations of the lower esophageal sphincter independent of swallowing, which permits gastric content to enter the esophagus.148 GER typically occurs after meals and causes few or no symptoms. In infants, GER may be associated with regurgitation,

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spitting up, and even vomiting.212 The content of the reflux is generally nonacidic and improves with maturation.148 GERD can be classified as either esophageal or extraesophageal and be further characterized by findings of mucosal injury on upper endoscopy.148 Esophageal GERD conditions include vomiting, irritability, poor weight gain, dysphagia, abdominal or substernal pain, and esophagitis.148 Extraesophageal conditions can include respiratory symptoms, including cough and laryngitis, as well as wheezing in infancy.223 Dental erosions, pharyngitis, sinusitis, and recurrent otitis media can also be present as the child gets older. Children with neurologic impairment, certain genetic disorders, esophageal atresia, chronic lung disease, cystic fibrosis, and prematurity are at higher risk for GERD than other populations. The incidence of GERD is also lower in breastfed infants compared to formula-fed infants.188

FIG. 29.3 Handling is slow and based on infant’s

cues. (From VandenBerg KA: Individualized developmental care for high risk newborns in the NICU: a practice guideline. Early Hum Dev 83(7):433-442, 2007.)

Diagnosis of GER is typically based on the infant’s symptoms and physical examination. If the infant is growing and generally

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healthy, further testing is not indicated. Diagnostic tests for GERD include esophageal pH monitoring to measure the acidity of the infant’s esophagus. A tube is inserted through the infant’s nostril or mouth and left in place for 24 hours to monitor the frequency and duration of esophageal acid exposure.148 X-rays may be needed if an obstruction is suspected, and an upper endoscopy may be done to rule out problems in the esophagus (stricture or inflammation). Upper GI tract contrast radiography is an option when infants are able to tolerate testing. A GERD behavioral scale questionnaire called the Infant Gastroesophageal Reflux Questionnaire (I-GERQ) has been shown to be valid and specific134 and has been modified by Birch and Newell for premature infants.40 Management of GER is done through lifestyle modifications to minimize symptoms and does not require medication. Lifestyle modifications for both GER and GERD include a combination of feeding changes and positioning therapy. Modifying maternal diet in breastfed infants, changing formulas, reducing feeding volume while increasing frequency of feedings, and using thickened feedings are strategies shown to be effective in managing the symptoms of GER and milder symptoms of GERD.254 Pharmacotherapeutic agents include acid suppressants, antacids, histamine 2 receptor antagonists (H2RAs), proton pump inhibitors (PPIs), and prokinetic agents. Surgical intervention is reserved for children with intractable symptoms or who are at risk for lifethreatening complications of GERD. Surgical options include fundoplication, where the gastric fundus is wrapped around the distal esophagus, and total esophagogastric dissociation if fundoplication has failed.

Neonatal Abstinence Syndrome Neonatal abstinence syndrome (NAS) or neonatal withdrawal is a term used to describe an array of signs and neurobehaviors seen in the newborn after abrupt termination of gestational exposure to substances taken by the mother during pregnancy, principally opioids.122 Common substances and drugs include opioids such as heroin and methadone, prescription medications containing opioids such as hydrocodone or oxycodone, benzodiazepines, alcohol, antidepressants, and antipsychotics. These drugs are metabolized

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by the placenta and their metabolites cross the placental barrier through varied diffusion and transportation processes.37 Further complicating the situation for the exposed infant is the possibility of polysubstance use, psychiatric co-morbidities, and other life factors such as violence, lack of prenatal care, and poor nutrition.122 Common clinical presentations in the neonate include highpitched cry, irritability, sleep-wake disturbances, hyperactive primitive reflexes, transient tone alterations (tremors, hypertonicity), feeding difficulties, gastrointestinal disturbances (vomiting and loose stools), autonomic dysfunction (mottling, tachypnea, sweating, sneezing, nasal stuffiness, fever, yawning), failure to thrive, and seizures.91 Symptoms of withdrawal usually occur within 72 hours after birth.219 The diagnosis of NAS is made based on maternal history, maternal and infant toxicology lab tests, and clinical examination of the infant. The severity of withdrawal or abstinence is commonly scored using the Finnegan Scoring System91 on a list of 21 symptoms that are most frequently observed in opiate-exposed infants. Each symptom and its associated degree of severity are assigned a score, and the total abstinence score is determined by totaling the score assigned to each symptom over the scoring period. Neurobehavioral functioning and recovery can be assessed with the Neonatal Intensive Care Unit Network Neurobehavioral Scale (NNNs), which was designed to provide a comprehensive assessment of both neurologic integrity and behavioral functions.144 Infants with withdrawal symptoms may require admission to the NICU for close monitoring and pharmacologic treatment with closely monitored administration of opioid-containing medications (morphine, tincture of opium, or methadone) or buprenorphine, which is gradually weaned as withdrawal symptoms decline. Contingently to medication, supportive measures are offered to support the infant’s ability to eat, sleep, and interact. Supportive therapeutic modalities include nonnutritive sucking, positioning/swaddling, gentle handling, demand feeding, minimal stimulation, and environmental modifications to promote a quiet and subdued environment for the infant.135

Necrotizing Enterocolitis

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Necrotizing enterocolitis (NEC) is an acute inflammatory disease of the bowel that occurs most frequently in premature infants weighing less than 2000 g during the first 6 weeks of life.99,157 Although the cause is not known, several factors appear to play a role in the pathogenesis of NEC. Many of these factors involve impaired blood flow to the intestine that results in death of mucosal cells lining the bowel wall making it permeable to gas-forming bacteria that invade the damaged area to produce pneumatosis intestinalis, air in the submucosal or subserosal surfaces of the bowel.149 Signs of obstruction of the bowels include vomiting, distention of the abdomen, increased gastric aspirates, passing of bloody stools, retention of stools, lethargy, decreased urine output, and alterations in respiratory status. Diagnosis of NEC is made by physical examination, laboratory tests, and radiography. Radiographic or abdominal ultrasonography is used to follow the course of the disease, with lucent bubbles appearing as the gas-forming bacteria enter the intestinal wall.117 Medical treatment of NEC includes discontinuation of all oral feedings, abdominal decompression via nasogastric suction, administration of intravenous antibiotics, and correction of fluid and electrolyte imbalances.45 Surgical intervention is indicated when there is radiographic evidence of fixed, dilated intestinal loops accompanied by intestinal distention, perforation, intestinal gangrene, and abdominal wall edema.

Retinopathy of Prematurity Retinopathy of prematurity (ROP) is caused by proliferation of abnormal blood vessels in the newborn retina, which occurs in two phases. Phase I is delayed growth of retinal blood vessels after premature birth. Phase II occurs when the hypoxia created during phase I stimulates growth of new blood vessels.162 The outcome of ROP varies from normal vision to total loss of vision if there is advanced scarring from the retina to the lens resulting in retinal detachment.242 The incidence of ROP increases with lower gestational age, lower birth weight, and BPD.162 The classification system for ROP uses a standard description of the location of the retinopathy using zones and clock hours, the severity of the disease or stage, and presence of special risk

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factors.119 The classification system was revised in 2005 to include a rapid progressive form of ROP.120 Classification of ROP includes five stages.241 Stage 1 is characterized by a visible line of demarcation between the posterior vascularized retina and the anterior avascular retina. Stage 2 is characterized by pathologic neovascularization that is confined to the retina and appears as a ridge at the vascular/avascular junction. Stage 3 includes new vascularization and migration into the vitreous gel. Stage 4 is characterized by a subtotal retinal detachment. Stage 5 is complete retinal detachment.

Hyperbilirubinemia Hyperbilirubinemia, or physiologic jaundice, is the accumulation of excessive amounts of bilirubin in the blood. Bilirubin is one of the breakdown products of hemoglobin from red blood cells. This condition is seen commonly in premature infants who have immature hepatic function, an increased hemolysis of red blood cells as a result of high concentrations of circulating red blood cells, a shorter life span of red blood cells, and possible polycythemia from birth injuries. The pathogenesis of hyperbilirubinemia may be multifactorial and associated with late preterm gestational age, exclusive breastfeeding, and ABO hemolytic disease (blood incompatibility between mother and fetus).266 The primary goal in treatment of hyperbilirubinemia is the prevention of kernicterus, which is the deposition of unconjugated bilirubin in the brain, especially in the basal ganglia, cranial nerve nuclei, anterior horn cells, and hippocampus. Phototherapy is administered via a bank of lights or fiberoptic blankets.

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Foreground Information Examination and Evaluation The purposes of the physical therapy examination and evaluation of infants in the NICU are to identify (1) impairments in body function and structure that contribute to activity limitations and participation restrictions, (2) the developmental status of the infant, (3) the infant’s individualized responses to stress and selfregulation, (4) needs for skilled positioning and handling, and (5) environmental adaptations to optimize growth and development. The examination and evaluation must support goals aimed at the infant’s participation in age-appropriate developmental activities (e.g., feeding, tucking, self-soothing, social interaction with caregivers) and interactions with the family (e.g., relationshipbuilding, attachment).

Neurobehavioral Observation The examination and evaluation of high-risk infants are best conducted using a combination of observation and handling techniques that occur over several sessions. Infants hospitalized in the NICU will often not tolerate a full standardized developmental examination. Rather, the physical therapist often formulates a neurobehavioral profile based on observation of the infant’s behaviors. That is, the physical therapist describes the infant’s successes and difficulties in achieving and maintaining selfregulation and identifies the strategies that best support the infant’s own self-regulatory efforts and developmental level of the infant (Box 29.2).42 Physical therapy interventions must be appropriately timed and modulated to match the neurobehavioral profile of the infant because handling of medically fragile infants can impose physiologic stress. In accord with family-centered practice, examination and intervention should be in partnership with the family to assist with bonding, facilitate developmentally supportive positioning and handling, and allow for carryover of therapeutic strategies. Lastly, the physical therapist is part of an

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interdisciplinary team of health care providers. Consistent with the Guide to Physical Therapist Practice (http://guidetoptpractice.apta.org), effective communication and collaboration with professionals from all disciplines and accurate documentation are critical. In the next section, a neurobehavioral framework is presented for examination of the high-risk infant with examples of considerations for specific diagnoses.

B O X 2 9 . 2 Recommendations

for Physical

Therapist Examination and Evaluation of Infants in the NICU Protect the infant’s fragile neurobehavioral system, particularly for infants who may not tolerate handling or a standardized evaluation. Repeat observations over time. Partner with parents and members of the NICU team. Observe, interpret, and communicate infant behaviors to parents and members of the NICU team.

Behavioral State States of consciousness were originally proposed by Wolff and have been expanded to include six behavioral states: (1) deep sleep, (2) light sleep, (3) drowsy, (4) quiet awake, (5) active awake, and (6) crying.273 Thus the terms states of consciousness and behavioral states are often used interchangeably by clinicians conducting neurobehavioral observations. That is, each state of consciousness is characterized by a set of associated behaviors. Als has expanded this paradigm to include 12 states to distinguish between the adaptive and maladaptive self-regulatory strategies of fragile infants.8 As infants mature, they are able to transition smoothly and predictably between states. Important observations include: the range, clarity and robustness of behavioral states, the lability and transition patterns from state to state, and the ability to self-sooth. For example, an infant who is 25 weeks of corrected gestational age (CGA) will likely spend most of the day in a light sleep state and will have brief periods of quiet awake. Comparatively, an infant

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who is 40 weeks of CGA should have longer periods of quiet awake time, particularly before and following feedings. An infant’s ability to achieve and maintain sleep and awake states will be compromised by her medical and neurodevelopmental status. The physical therapist plays a key role in educating parents and staff to identify state transitions and optimize the environment (e.g., modifications to light, sound, and interaction) to facilitate smooth transitions to and from sleep. Infants with neonatal abstinence syndrome (NAS, described later in Common Diagnoses of Infants Hospitalized in the NICU) demonstrate difficulty with state organization.217 During the examination of the infant with NAS, the PT should carefully observe the infant’s state transition patterns, duration of each state, and self-soothing strategies. Before the examination, the infant’s care team should be consulted to determine how NAS symptoms are being assessed (e.g., a standardized scoring method) and managed medically.

Autonomic System During the examination of the autonomic system, the physical therapist obtains the infant’s heart and respiratory rate from the cardiorespiratory monitor and observes the infant’s breathing pattern, skin color, visceral signs, twitches, startles, and tremors. In the neonate, heart rates range from 120 to 180 beats per minute and respiratory rate ranges from 40 to 60 breaths per minute.155 In addition, respiratory effort and digestive function during rest, routine care, handling, and social interaction should be noted. Irregular respirations or paling around the mouth, eyes, and nose; spitting up; straining; bowel movements; and hiccoughs indicate instability or difficulty in achieving self-regulation. Smooth respirations; even color; and minimal startles, tremors, and digestive instability indicate that the demands of the situation have not exceeded the infant’s capacity for self-regulation. Infants with chronic lung disease (CLD, described later in Common Diagnoses of Infants Hospitalized in the NICU) have limited endurance for functional activities. Changes in respiratory effort during the examination should be carefully observed. Costal retractions, head bobbing, and nasal flaring are evidence of

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increased work of breathing, and their presence, timing, and resolution should be carefully noted.191 Collaboration with nursing and respiratory therapy staff to facilitate the developmental examination is necessary in order to coincide with optimal timing of diuretic therapy, how modification to oxygen therapy will be managed including the upper and lower parameters of oxygen, and whether the mode of oxygen therapy can be modified for the examination to allow for greater bedside mobility. The examination of the infant with CLD requires frequent breaks, appropriate pacing of activity, and modification of the environment (e.g., lighting, sound, and social interaction) to allow the infant to utilize strategies for self-regulation.

Motor System Physical therapists are among the most highly qualified members of the health care team to examine the motor system of a fragile infant and interpret findings. Examination should include observation of the infant’s muscle tone and posture at rest and active movements during quiet awake periods, routine care, social interaction, and feeding. Movements should be interpreted according to the progression of active flexion patterns that emerge with increasing gestational age. Typically these occur at 32 weeks for lower extremities, 35 weeks for upper extremities, and 37 to 39 weeks for head and trunk.256 Thus the immature neuromotor system of the preterm infant often precludes independent antigravity flexion movements and predisposes the infant to “compensations,” including retracted scapulae, externally rotated and abducted lower extremities, and extension and rotation postures of the cervical spine and trunk.247 Applying the frameworks previously described, less emphasis is placed on testing reflexes. Rather, the physical therapist examination evaluates reflexes deemed more “functional” (e.g., suck, swallow, palmar and plantar grasp, and early righting responses).176 Infants with IVH are at risk for neuromotor impairments that range from mild to severe.112,164 When examining an infant with IVH, the therapist should note asymmetries in postural muscles and active movements of the extremities, including absence of isolated distal or rotational movements. Clonus should be tested in

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both ankles. Muscle tone at rest and during active movement should be observed and changes documented. Flexor tone and antigravity movements should be evaluated and movement patterns observed when the infant is awake and alert because behavioral state influences motor system activity and hence infant motor control.

Social Interaction Infants enter the world predisposed to socialize. While healthy, fullterm infants can visually track faces or brightly colored objects and alert to familiar voices and orient to familiar voices,39 preterm or medically fragile infants may be able to complete these tasks with support and facilitation from the caregiver or therapist.8,41 A developmental examination may include presenting visual and auditory stimulation to an infant. Physical therapists should judiciously offer opportunities for the infant to socially interact because these complex tasks can be distressful and overwhelm the infant’s capacity for self-regulation. The physical therapist plays a critical role in facilitating social interaction between infants and caregivers by modeling developmentally supportive interactions, modifying the environment as needed, and providing parents with anticipatory guidance about the progression of their infant’s social interaction skills.43

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Tests and Measures Results of tests and measures are used to: (1) objectively document infant functioning over time, (2) justify the need for developmental interventions in the NICU, (3) evaluate intervention outcomes, and (4) identify the need for developmental follow-up and intervention after discharge from the NICU. Administration of tests to infants who are fragile and have medically complex conditions requires clinical judgment and constant monitoring of physiologic stability to determine whether the administration of the test is well tolerated by the infant and the results are representative of the infant’s current abilities. Many infants will not have the physiologic stability required to withstand the stress of being handled during the administration of the test. For infants who are not physiologically stable, testing will have to be either postponed or done in multiple brief periods. Most useful to the physical therapist are tests and measures of neurologic function, neurobehavioral functioning, motor behavior, and oral-motor function. The tests and measures used by physical therapists vary widely but the Test of Infant Motor Performance (TIMP), designed by and for physical therapists working with infants as young as 32 weeks of gestation, has become the most widely used assessment of infant functional motor behavior in the NICU.179 Derived from traditional neurobehavioral assessments, the Newborn Behavioral Observation system NBO is a neurobehavioral relationship-building tool that supports the efforts of the physical therapist to establish a rapport with families and share with them developmental information about their infant in a positive context.179 The Dubowitz, used to establish the gestational age of the infant at birth, provides physical therapists with an excellent opportunity to learn about neurologic maturity of infants in the weeks before term age.81 Some tests such as the Newborn Individualized Developmental Care and Assessment Program (NIDCAP), Neonatal Behavioral Assessment Scale (NBAS), and the Assessment of Preterm Infant Behavior (APIB) require certification and take as long as 90 minutes to administer, score, and interpret. A team approach and sharing of information between professionals

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may help in addressing time and cost issues and improve coordination of care. Certification on the TIMP, NIDCAP, NBAS, or APIB will greatly enhance the clinical skills of physical therapists working with young infants. Table 29.3 provides a list of tests and measures commonly used by physical therapists in the NICU and described in this section. TABLE 29.3 Tests and Measures Used to Assess Infants in the Neonatal Intensive Care Unit

Dubowitz L, Dubowitz V: The neurological assessment of the preterm and full-term newborn infant. London: Heinemann, 1981. b

Brazelton TB, Nugent JK: The Neonatal Behavioral Assessment Scale 4th ed. Mac Keith Press, Cambridge, 2011. c

Nugent JK, Keefer CH, Minear S, et al.: Understanding newborn behavior & early relationships: The Newborn Behavioral Observations (NBO) system handbook. Baltimore: Brookes, 2007. d

Als H: A synactive model of neonatal behavioral organization: framework for the assessment of neurobehavioral development in the premature infant and for support of infants and parents in the neonatal intensive care environment. Phys Occupat Ther Pediatr 6(3/4):3-54, 1986. e

Als H, Lester BM, Tronick EZ, Brazelton TB: Manual for the assessment of preterm

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infants’ behavior (APIB). In Fitzgerald HE, Lester BM, Yogman MW, editors: Theory and research in behavioral pediatrics. New York: Plenum Press, 1982. p. 65-132. f

Lester BM, Tronick EZ, Brazelton TB: The Neonatal Intensive Care Unit Network Neurobehavioral Scale Procedures. Pediatrics 113(3 Pt 2):641-667, 2004. g

Campbell SK, Hedeker D: Validity of the Test of Infant Motor Performance for discriminating among infants with varying risk for poor motor outcome. J Pediatr 139:546-551, 2001. h

Braun MA, Palmer MM: A pilot study of oral-motor dysfunction in “at-risk” infant. Phys Occupat Ther Pediatr 5(4):13-26, 1985. i

Barnard KE, Eyres SJ: Child health assessment. Part 2: the first year of life. (DHEW Publication No HRA79-25). Bethesda, MD: US Government Printing Office, 1979. j

Thoyre SM, Shaker CS, Pridham KF: The early feeding skill assessment for preterm infants. Neonatal Netw 24(3):7-16, 2005.

Neurological Assessment of the Preterm and Full-Term Newborn Infant The Neurological Assessment of the Preterm and Full-Term Newborn Infant, commonly known as the Dubowitz, is a systematic, quickly administered, neurologic and neurobehavioral assessment developed to document changes in neonatal behavior in the preterm infant after birth, to compare preterm infants with newborn infants of corresponding postmenstrual age, and to detect deviations in neurologic signs and their subsequent evolution.80,81 The assessment takes 15 minutes or less to administer and is divided into six sections: (1) posture and tone, (2) tone patterns, (3) reflexes, (4) movements, (5) abnormal signs/patterns, and (6) orientation and behavior. Scoring is based on patterns of response rather than a summary or total score. Although the Dubowitz has a long tradition in the NICU, it is mostly used by physicians and medical residents to establish gestational age at birth by observation. For physical therapists working in the NICU, learning to administer the Dubowitz will contribute to the knowledge and expertise in evaluating the tone and posture of very young infants.

Neonatal Behavioral Assessment Scale The Neonatal Behavioral Assessment Scale (NBAS) is the most commonly used assessment of infant neurobehavioral functioning

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in the world today.47 Used extensively in research, the NBAS includes 28 behavioral items scored on a 9-point scale and 18 reflex items scored on a 4-point scale. The reflex items can be used to identify gross neurologic abnormalities but are not intended to provide a neurologic diagnosis. The NBAS also includes a set of seven supplementary items designed to summarize the quality of the infant’s responsiveness and the amount of examination facilitation needed to support the infant during the assessment. These supplementary items were originally included to better capture the quality of behaviors seen in high-risk infants. Therefore the NBAS is well suited for use with the high-risk population. The NBAS is appropriate for use with term infants and stable high-risk infants near term age until the end of the second month of life postterm. The NBAS has been used extensively in research to study and document the effects of prematurity; intrauterine growth retardation; and prenatal exposure to cocaine, alcohol, caffeine, and tobacco on newborn behavior.182 The NBAS has also inspired others to develop scales for use with diverse populations. Examples include the Assessment of Preterm Infant Behavior for use with premature infants10 and the NICU Network Neurobehavioral Scale for use with infants exposed to drugs in utero,145 both described in this section. The NBAS’s central focus on the facilitation of infant competence by a trained and sensitive examiner has also brought to light its powerful qualities as an intervention tool for use with a wide range of families. This subsequently led to the development of a number of NBAS-based relationship-building tools such as the Mother’s Assessment of the Behavior of the Infant (MABI),267 the Combined Physical Exam and Behavioral Exam (PEBE),127 the Family Administered Neonatal Activities (FANA),61 and most recently the Newborn Behavioral Observation (NBO) system described in this section.180 More information on the NBAS is available at www.brazelton-institute.com.

Newborn Behavioral Observation System As previously mentioned, the NBO is not an assessment tool but a relationship-building tool designed to help practitioners sensitize

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parents to their child’s competencies and uniqueness, support the development of a positive and nurturing parent–infant relationship, and foster the development of the practitioner–parent relationship.180 The NBO consists of 18 neurobehavioral items used to elicit infant competencies and make observations of newborn behavior, such as sleep behavior, the baby’s interactive capacities and threshold for stimulation, motor capacities, crying, consolability, and state regulation.180 Because it is conceptualized as an interactive behavioral observation, the NBO is administered in the presence of the family to provide a forum for parents and the practitioner to observe and discuss the newborn’s behavior. The NBO takes 45 minutes or longer to administer and can be completed from term age (and in some cases in infants as young as 36 weeks corrected gestational age who are medically stable) to the end of the second month of life postterm. The NBO has been used in diverse settings such as routine pediatric postpartum exams in hospital, clinic, and home settings and is feasible to administer amidst the multiple demands placed on pediatric PTs because it can be easily incorporated into clinical practice settings. Research suggests that the NBO is effective in helping professionals support parents’ confidence and competence in caring for their infant and promotes a collaborative relationship between parents and clinicians.171,181,214 More information on the NBO is available at www.brazelton-institute.com.

Newborn Individualized Developmental Care and Assessment Program The NIDCAP is a comprehensive approach to care for infants in the NICU that is developmentally supportive and individualized to the infant’s goals and level of stability.8,9 The NIDCAP is inclusive of families and professionals. Completion initially involves direct and systematic observation, without the observer manipulating or interacting, of the preterm or full-term infant in the nursery before, during, and after a caregiving event. Observation is guided by a behavioral checklist to record the caregiving event; positioning; environmental characteristics such as light, sound, and activity; and the infant’s behaviors. The observation begins 10 minutes before

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care, to observe the infant’s stability and behavioral reactions when undisturbed; observation continues until care is completed and for another 10 minutes thereafter or until the infant reaches preobservation stability levels. The behavior observation checklist is marked every 2 minutes for heart and respiratory rates, oxygen saturation levels, position of the infant, and the caregiving event taking place. The observation time can be minutes or hours depending on the caregiving event and the stability of the infant. Following this observation, a narrative is written that describes the caregiving event from the infant’s perspective, highlighting in great detail the infant’s behaviors in relationship with the caregiving and environmental events taking place simultaneously. Suggestions for caregiving modifications to support the infant’s physiologic maturation and strategies at self-regulation are developed from the narrative. A physical therapist trained and certified in the NIDCAP can share this information with the NICU team and provide suggestions for modifying the environment and caregiving activities. These suggestions may pertain to lighting, noise level, activity level, bedding, aids to self-regulation, interaction, timing of manipulations, and facilitation of transitions from one activity to another. The NIDCAP has been found to be most effective in influencing medical outcome,11,12 and it is suggested to be a causative agent in altering brain function and structure.6,7 More information and a list of NIDCAP training centers may be obtained at www.nidcap.org.

Assessment of Preterm Infant Behavior The APIB is a comprehensive and systematic neurobehavioral assessment of preterm and high-risk infants10,13,14 that is based on the Neonatal Behavioral Assessment Scale.249 Also viewed as a neuropsychologic assessment, the APIB provides a detailed assessment of infants’ self-regulatory efforts and thresholds to disorganization as viewed through the infant’s behaviors. The exam proceeds through a series of maneuvers that increase in vigor as well as tactile and vestibular demands to determine the infant’s self-regulatory abilities. The APIB may take up to an hour, depending on the level of stability of the infant, whereas scoring

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may take between 30 and 45 minutes. Writing the clinical assessment report from the APIB may take up to 3 hours, depending on the complexity of the medical history, developmental issues, and recommendations.184 To be safely handled for the duration of the assessment, the infant must be physiologically stable and 32 weeks of postconceptional age or older. The APIB is appropriate for use with high-risk infants until approximately 44 to 48 weeks of postconceptional age. Training is extensive and available for clinicians and developmental professionals in the NICU and follow-up clinical settings. More information is available at www.nidcap.org.

NICU Network Neurobehavioral Scale The NICU Network Neurobehavioral Scale (NNNs) is designed for the neurobehavioral assessment of medically stable drug-exposed and other high-risk infants, especially preterm infants between the ages of 30 and 46 to 48 weeks of postconceptional age.145 The NNNs is used to document and describe developmental and behavioral maturation, central nervous system integrity, and infant stress responses. Although similar to the NBAS in content, the NNNs differs in the order of item administration. For example, items are skipped if the infant is not in the appropriate behavioral state, and deviations in administration are recorded. Additionally, the time required to administer the NNNs is shorter than the NBAS because the NNNs is less focused on infant best performance and the infantexaminer interaction. The NNNs comprises 115 items, 45 of which require specific manipulation of the infant, whereas the other 70 items are observed over the course of the examination. It is divided in three parts: (1) an Examination Scale that includes neurologic items that assess passive and active tone and primitive reflexes and items that reflect central nervous system integrity; (2) an Examiner Ratings Scale that includes behavioral items including state, sensory, and interactive responses; and (3) a Stress/Abstinence Scale that includes seven categories of items designed to capture behavioral signs of stress typical of high-risk infants and signs of neonatal abstinence or withdrawal commonly seen in drug-exposed infants.145 The NNNs has been used to describe the neurobehavioral

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profile of infants exposed to methamphetamine,194,227 cocaine,213 and marijuana.74

Test of Infant Motor Performance The TIMP is a test of functional motor behavior in infants for use by physical and occupational therapists and other professionals in the NICU and early intervention or diagnostic follow-up settings.55 The TIMP can be used to assess the infants between the ages of 34 weeks of postconceptional age and 4 months postterm. The test examines postural and selective control of movement needed for functional motor performance in early infancy. The TIMP requires approximately 25 to 45 minutes for administration and scoring.55 Spontaneous and elicited movements constitute separate subscales. The Observed Scale consists of 13 dichotomously scored items that assess the infant’s spontaneous attempts to orient the body, to selectively move individual body segments, and to perform qualitative movements such as ballistic or oscillating movements.57 Examples of observed behaviors include individual finger and ankle movements, reaching, and aligning the head in midline while supine. The Elicited Scale consists of 29 items scored on a 5-, 6-, or 7-point hierarchic scale.73 Elicited behaviors reflect the infant’s response to positioning and handling in a variety of spatial orientations and to visual and auditory stimuli. Examples include rolling prone with head righting when the leg is rotated across the body and turning the head to follow a visual stimulus or to search for a sound in prone. The TIMP has been shown to have excellent test-retest and rater reliability, good construct validity,57,176 concurrent validity,56 and predictive validity.55,58,93,230 The TIMP can be used for the early identification of very young infants at risk for poor motor performance58,93 and cerebral palsy as early as 2 months of adjusted age.29,30 A shorter version used for screening purposes, the Test of Infant Motor Performance Screening Items (TIMPSI), is now available.59 The TIMPSI takes half the time to administer when compared to the TIMP and is considered useful for fragile babies or for rapid screening that reduces the need for full TIMP testing in infants who do well on the TIMPSI. Users of the TIMPSI must have

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previous knowledge and training of the full TIMP in order to use it effectively. More information about the TIMP and TIMPSI can be found at www.timp.com. A video demonstrating administration of the TIMP is on Expert Consult.

General Movements Assessment The General Movements (GM) Assessment is an assessment to identify movements and movement patterns that are predictive of cerebral palsy.205 The underlying motor theory is that the emergence of typical movement patterns follows a predictable course whereby infants’ movements can be characterized as writhing (from term to 8 weeks’ postterm), fidgety, and voluntary (after 8 to 20 weeks’ postterm). The purpose of the GM Assessment is to observe infant movement patterns for deviations from this theorized, typical trajectory. Examples of atypical movements include, in the prenatal period (i.e., until term): a limited movement repertoire or poor differentiation of movements; from term to 8 weeks’ postterm: rigid and chaotic movements that lack smoothness and fluency (e.g., cramped synchronous movements); and from 6 weeks to 20 weeks’ postterm: absent or abnormal fidgety movements. The GM Assessment is based upon observation or a video recorded while the infant is in an alert behavioral state, which makes it appropriate for even the most fragile NICU infants. It is particularly designed for infants at high-risk for cerebral palsy because the main purpose of the GM Assessment is to predict risk for cerebral palsy.205 The GM Assessment has been shown to have excellent (i.e., 90%) interrater reliability when assessed by trained examiners from videos. In addition, the persistence of cramped synchronous movements and the absence of fidgety movements are a valid predictor of cerebral palsy with 95% sensitivity and 96% specificity.179,205 Both basic and advanced courses are available to learn the GM Assessment (http://general-movementstrust.info/46/invitation).

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The Neurobehavioral Assessment of the Preterm Infant (NAPI) is designed to monitor early infant development and evaluate the effects of interventions in the neonatal period. The NAPI is appropriate for infants 32 weeks to term age. The NAPI consists of seven domains: motor development, scarf sign, popliteal angle, attention and orientation, percent sleep, irritability, and vigor of the infant’s cry.136 The NPAI has been shown to have good interrater reliability and stability of the domains over time. In addition, the NPAI has strong construct validity and detects changes over time in neonatal neurobehavioral development in response to intervention. However, the NAPI appears to be weakly correlated with neonatal physiologic measures.179 More information about the NAPI can be found at: http://med.stanford.edu/NAPI/.

Oral-Motor Examination Oral-motor examination is an advanced competency. Two useful measures are the Neonatal Oral-Motor Assessment Scale (NOMAS)46,94 and the Nursing Child Assessment Feeding Scale (NCAFS).31,244 The NOMAS measures components of nutritive and nonnutritive sucking. Variables assessed during sucking include rate, rhythmicity, jaw excursion, tongue configuration, and tongue movement. A pilot study determined cutoff scores for oral-motor disorganization and dysfunction. The NCAFS assesses parent– infant feeding interaction and evaluates the responsiveness of parents to their infant’s cues, signs of distress, and social interaction during feeding. Both of those assessment tools require highly specialized training but provide an excellent diagnostic framework for fragile feeders. Neonatal physical therapists may also find useful the Early Feeding Skills Assessment (EFS) as a tool to assess infant readiness and tolerance for feeding and to identify a profile of an infant’s specific skills relative to a developmental progression of oral feeding competencies.250 A systematic review of neuromotor and neurobehavioral assessment for preterm infants up to four months corrected gestational age identified GM Assessment, the TIMP, and the NAPI as having strong reliability and validity.179 Specifically, the NNNs and APIB have strong reliability and validity and are very well

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suited for research. Similarly, the GM Assessment, TIMP, and NAPI are valid and reliable instruments and appear to be well suited and feasible for use in clinical settings. Finally, the results of the systematic review suggest that the GM Assessment is most accurate in prediction of cerebral palsy.179 With the variety of tests and measures available to pediatric PTs practicing in the NICU, the question often arises, What is the best assessment tool? In our experience the answer to this question depends on the purpose of administering the measure and the resources available to support use of the measure in clinical practice. For example, as noted above, tests and measures vary in their purpose from predicting CP (i.e., GM Assessment) to promoting the parent–infant relationship (i.e., NBO). If the primary purposes are to promote parent–infant bonding and to document the infant’s self-regulatory behaviors, we often use the NBO in our clinical practice. If the primary purpose is to assess neuromotor skills, especially using a measure that can be repeated in a followup program, the TIMP is the choice we would make in our clinical practice. It is common for a combination of these tools to be used to describe the child’s developmental abilities. However, as research scientist PTs in the NICU we typically use the TIMP because it has strong psychometric properties and is suited to the research questions we investigate on prediction of outcomes and efficacy of interventions. Another important consideration in choice of measures is the monetary and time resources available to the PT or development and therapeutic team to choose a particular measure. For example, some measures require extensive resources not only to purchase the measure but also to train with an experienced clinician to become reliable in administering it (for example, NIDCAP and APIB require training by credentialed instructors). These measures also tend to be lengthy to administer, score, and document. Thus PTs must consider their productivity requirements and workload as well as the capacity of the therapeutic team to integrate lengthy evaluation tools into busy NICU practice. In our experience the PT who is the NICU’s developmental specialist is typically trained in the NIDCAP and APIB and typically has the scheduling flexibility to administer these instruments. Moreover, the PT with expertise and mentoring

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in the NICU can learn to do the TIMP through continuing education courses and training DVDs followed by reliability checks. The TIMP can be included and billed as part of the clinical examination; administration may occur over two sessions, which typically aligns well with scheduling and productivity requirements. Thus the purpose of the assessment, training and resources of the PT, and time should also be considered in selecting clinical assessment tools.

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Physical Therapist Intervention Developmental interventions in the NICU are designed to provide the infant: (1) sensory experiences that are individualized in type and intensity to the infant’s developmental and physiologic capacity, (2) movement opportunities that promote positive movement experiences that may lead to adaptive neuroplasticity,203,226 and (3) developmental support during the transition from the NICU to home provided by caregivers who have confidence and competency in caring for their infant.83,84 To the extent possible, developmental interventions should be integrated into the care and day/night routines of the infant. Costbenefit is an important consideration. We recommend that physical therapist interventions be individualized, framed within a 24-hour care perspective, and part of an interdisciplinary team approach. Physical therapists should carefully assess and reflect on the relevance of all interventions provided in the NICU. Interventions of any kind, especially those based on theory, may in fact be harmful unless consideration is given to an infant’s physiologic, sensory, and neurologic capacity and the environment. An infant whose sleep is interrupted numerous times during the day and night may benefit more from sleep protection than from sensory experiences and movement opportunities. Table 29.4 summarizes systematic reviews relevant to developmental interventions in the NICU. A summary of general recommendations for developmental care, direct interventions provided by physical therapists, and discharge planning presented in the following sections is provided in Table 29.5. It is important to note that research evidence is not sufficient to support specific interventions.

Developmental Care Developmental care is a broadly defined term used in many NICUs and in research to describe the use of environmental interventions, such as sound and light reduction, along with sleep preservation or clustered care in order to support the infant’s development.248 Developmental care also encompasses an individualized

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developmental care plan followed by all members of the team including the physical therapist. As part of an interdisciplinary team providing developmental care in the NICU, physical therapists have an important role in coordination of care. This includes recommendations related to the NICU environment as a whole or for a specific infant. The NIDCAP is a highly structured system of assessing the infant’s behavioral responses to a caregiving event and subsequent design of an individualized developmental care plan. NIDCAP is typically implemented by an entire NICU with a developmental specialist or physical therapists providing the individualized assessments and recommendations. Although there have been no reports of adverse events or negative consequences from the use of the developmental care or NIDCAP, there is conflicting evidence on the short- and long-term outcomes. There is debate regarding the finding reported in a systematic review indicating that there was no significant difference in developmental outcomes for infants who had care provided with or without a NIDCAP approach.15,107,186,187 Although some studies reported short-term improvements in developmental outcome, faster weight gain, and shorter length of stay in the NICU, other studies found no lasting gains. Other small studies found improved long-term developmental outcomes.168 NIDCAP is a specific intervention approach, but many characteristics of NIDCAP are integrated in NICUs that do not specifically follow a NIDCAP approach with standardized assessment intervals. Thus the findings specific to NIDCAP should be considered as one component of developmental care, rather than being mutually exclusive.107 Physical therapists who provide care in the NICU benefit from the NIDCAP training because it provides an outstanding opportunity to learn about the theoretical background of interaction with medically fragile infants. Because physical therapists support the goals of developmental care or NIDCAP within a NICU, they must consider environmental factors including light, sound, and pain that are potential stressors for an infant in the NICU.100,101,140,152,198 These factors need to be considered when the infant is at rest in an isolette or crib as well as during parent or therapist interactions with the infant. The recommendations for light and sound in the NICU are that (1)

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ambient light should be in the range of 10–600 Lux and (2) acoustic sound should not exceed 45 decibels.152 Infants in the NICU are bombarded with sounds from the lifesaving equipment, staff, family, and other infants. Preterm birth results in the infant being exposed to sounds of greater than 250 Hz that are typically muted by the uterine walls throughout gestation. Thus the infant born preterm needs to cope with high-frequency sounds that may cause physiologic stress.198 A Cochrane review on the use of soundreduction interventions on growth and development of infants born very preterm identified only one study.4 The single study reported that use of infant ear plugs in the NICU was associated with higher mental developmental index scores on the Bayley at 18 to 22 months. However, the Cochrane review reports the evidence is too limited to consider use in clinical practice.1,4 Environmental modification including the use of single infant or family rooms, rather than an open unit with multiple bed spaces, has been found to reduce environmental noise (Fig. 29.4).151 However, other studies have raised concerns that the limited infant stimulation provided in single family rooms goes too far toward reducing stimulation and results in altered brain development and language delays at developmental follow-up.202 As part of general developmental care or environmental changes in the NICU, modification of lighting is common. However, there is debate on the best practices between the use of reduced lighting all day or the use of cycled lighting. Isolette covers or dimming room lights are common practices to reduce light exposure. Cycled lights typically included low light levels for 12 hours at night and unrestricted light for 12 hours during the day. A systematic review found that cycled light may be beneficial compared to continuous bright light.175 Infants in the cycled light groups may sleep more, have increased activity levels during the day, and demonstrate earlier feeding readiness or fewer days of ventilator support. However, this interpretation is based on few studies for each outcome measure and with limited comparison between reduced light and cycled light.100 TABLE 29.4 Systematic Reviews on Topics Relevant to Developmental

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Interventions of the High-Risk Infant in the NICU

Almadhoob A, Ohlsson A: Sound reduction management in the neonatal intensive care unit for preterm or very low birth weight infants. Cochrane Database Syst Rev 1: CD010333, 2015. b

Symington A, Pinelli J: Developmental care for promoting development and preventing morbidity in preterm infants. Cochrane Database Syst Rev 2:CD001814, 2006. c

Ohlsson A, Jacobs SE: NIDCAP: a systematic review and meta-analyses of randomized controlled trials. Pediatrics 131(3):e881-893, 2013. d

Morag I, Ohlsson A: Cycled light in the intensive care unit for preterm and low birth weight infants. Cochrane Database Syst Rev 8:CD006982, 2013. e

Phelps DL, Watts JL: Cochrane Database Syst Rev 1:CD000122, 2001.

Balaguer A, Escribano J, Roqué M: Cochrane Database Syst Rev 4, CD003668, 2006. h

Schulzke SM, Kaempfen S, Trachsel D, Patole SK: Physical activity programs for promoting bone mineralization and growth in preterm infants. Cochrane Database Syst Rev 4:CD005387, 2014.

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Vickers A, Ohlsson A, J. B. Lacy JB, Horsley A: Massage for promoting growth and development of preterm and/or low birth-weight infants. Cochrane Database Syst Rev 2:CD000390, 2004. j

Spittle AJ, Orton J, Doyle LW, Boyd R: Early developmental intervention programs post hospital discharge to prevent motor and cognitive impairments in preterm infants. Cochrane Database Syst Rev 18(2):2007. k

Spittle AJ, Orton P, Anderson R, et al.: Early developmental intervention programmes post-hospital discharge to prevent motor and cognitive impairments in preterm infants. Cochrane Database Syst Rev 12:CD005495, 2012. l

Wells DA, Gillies D, Fitzgerald DA: Cochrane Database Syst Rev 2:CD003645, 2005. m

Conde-Agudelo A, Belizán JM: Kangaroo mother care to reduce morbidity and mortality in low birthweight infants. Cochrane Database Syst Rev 2:CD002771, 2003. n

Engmann C, Wall S, Darmstadt G, et al.: Consensus on kangaroo mother care acceleration. Lancet 382:e26-27, 2013.

TABLE 29.5 General Recommendations for NICU Practice Based on the Authors’ Interpretation of the Limited Evidence for Developmental Care and Physical Therapy in the NICU

Kangaroo Mother Care, or skin-to-skin holding, is an intervention provided by parents in which the infant is held by a parent, usually the mother, on the parent’s bare chest (Fig. 29.5). The experience of kangaroo care has been shown to foster maternal attachment, improve maternal confidence in caring for her premature infant,125 and improve the odds of breastfeeding at discharge from the NICU and into the first year of life.108,183 A systematic review of kangaroo care suggested that mothers have reduced stress and depression following the use of kangaroo care.23 In addition, mother–child interactions are improved in the NICU and some studies suggest through 6 months of age.23 Feldman showed that preterm infants receiving kangaroo care in the NICU had more mature neurobehavioral profiles on the NBAS when compared to control

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infants.89 Being held in the kangaroo position (on the mother’s chest facing the mother with a cloth strip holding the infant in place for 8–12 hours per day) may also contribute to the development of increased trunk and leg flexion. One study showed increase surface electromyography activity following 96 hours of being positioned in the kangaroo care position.77 The overwhelming data supporting the benefits and limited risks of kangaroo care lead to a 2013 consensus statement encouraging the international adoption of the standard use of kangaroo care in the care of all infants born preterm.86 Although this practice has been adopted widely in NICUs, physical therapists can play an important role in encouraging kangaroo care as part of routine developmental care. In addition, physical therapists can work with families to engage them in caring for their infant and providing developmental support in the first weeks after birth.

FIG. 29.4 Single-room NICU.

(From Lester BM, Miller RJ, Hawes K,

et al.: Infant neurobehavioral development. Semin Perinatol 35(1):8-19, 2011.)

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FIG. 29.5 Kangaroo mother care.

(From Coughlin M: The

Sobreviver (Survive) Project. Newborn Infant Nurs Rev 15(4):169-173, 2015.)

Some NICUs have changed their environment from a large room with multiple beds to single-family or infant rooms based on recommendations for reduced sound, reduced or cycled light, and use of kangaroo care. Some studies suggest that single-family rooms increased family engagement and parents’ sense of control and decreased maternal stressors and led to increased use of kangaroo care resulting in slight improvement in medical and developmental outcomes.109,146 A systematic review of medical and development outcomes in single rooms suggested lower infection rates and possibly shorter length of stay.221 While the majority of studies still suggest benefit, as noted earlier, other studies suggest that single-family rooms may be associated with delayed language.101

Direct Interventions by Physical Therapists Infants in the NICU present with a wide range of conditions that

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have an impact on their later developmental outcome, including prematurity, neonatal seizures, intraventricular hemorrhage, stroke, hydrocephalus, respiratory distress syndrome, bronchopulmonary dysplasia, cystic fibrosis, spina bifida, arthrogryposis, and osteogenesis imperfecta. These conditions lead to impairments that affect the infant’s activity levels and interactions with parents and caregivers. Physical therapists provide direct intervention and help parents learn how to provide movement experiences for their infant born preterm to address impairments in body functions or structures and/or activity limitations. See the section on discharge planning for additional parent-therapist intervention approaches.

FIG. 29.6 Preterm infant placed in the left sidelying

position. The arms and legs are in a flexed, midline position close to the body. (From Gouna G, Rakza T, Kuissi E, et al.: Positioning effects on lung function and breathing pattern in premature newborns. J Pediatr 162(6):1133-1137, 2013.)

A review of the literature on interventions in the NICU indicates that interventions vary in focus and scope. It is difficult to reach consensus on effectiveness of any particular intervention because of the limited number of studies of well-defined interventions, the

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variety of outcome measures used, and heterogeneity of samples. We will provide a brief review of interventions focusing on positioning, massage, facilitated handling, physical activity to promote bone mineral density, and parent education because these interventions have more evidence than any others. Some consensus is available on these intervention modalities through systematic reviews, well-designed research trials, or reviews published by the Cochrane Collaboration, an international not-for-profit organization that provides up-to-date systematic reviews about the effects of health care (see Table 29.5).

Positioning The musculoskeletal system of a preterm infant is very susceptible to positional deformities resulting from NICU positioning. In addition, infants born preterm may demonstrate instability of the autonomic nervous system in response to changes in position or a lack of postural support. Physical therapists have an important role in collaborating with the nursing team and parents on recommendations for positioning, especially for very preterm infants. Although some evidence exists for specific positioning devices or strategies,128,159,252 there is not enough evidence to support a specific approach. As a result, physical therapists typically apply general positioning principles and work with nursing staff to implement positioning recommendations.195 Generally, the goals of positioning are to encourage midline head position, arms and legs flexed and close to the body. This simulates the intrauterine environment that contributes to typical skeletal alignment (Fig. 29.6). This position is often achieved with the use of blanket rolls or positioning aids to encourage alignment and aid in autonomic nervous system regulation.103,159 Infants cared for with support of midline head position, flexed and supported extremities, had improved leg and shoulder alignment during functional tasks and improved quality of movement.90,174 When positioning a young infant who is medically fragile, skeletal alignment and the impact of the position on cerebral blood flow are important considerations. Infants who are medically fragile can have decreased jugular blood flow, decreased tissue oxygenation, and increased cerebral blood flow velocities when

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they are positioned in 90 degrees of cervical rotation. Use of midline head positioning and head elevation 30 degrees for 72 hours after delivery is considered as best practice to reduce the incidence of IVH.161 After 3 days of age a variety of positions including prone, supine, and sidelying are recommended to promote skeletal alignment and reduce the likelihood of skeletal deformations including plagiocephaly and scaphocephaly.253 Although prone position has been thought to improve oxygenation, a 2012 Cochrane review found there is no evidence of improved apnea, oxygenation, or bradycardia in any position in infants who are breathing spontaneously.49 However, there is some evidence that infants have better gastric emptying and reduced stress when positioned in prone.60,64 Infants requiring phototherapy can receive adequate light exposure to reduce bilirubin positioned in either prone or supine.38 The AAP recommends that all infants sleep in supine to reduce the rate of sudden infant death syndrome. However, many infants are cared for in the NICU using a prone position. Although there is no evidence base to guide the time to transition preterm infants to supine, it must be done in the hospital before discharge to help the infant adjust to supine and facilitate the transition to home.172 Hospitals with policies regarding transition to supine are more consistent in making the transition 1 week prior to discharge. Those without hospital policies are more likely to transition infants only 24 hours prior to discharge, which may add to the stress experienced by families during this difficult time.173

Massage Massage for infants in the NICU ranges from light pressure with the hand staying still in the youngest infants to a kinesthetic program of providing full body infant massage, visual and vestibular input in infants nearing discharge. Massage is typically provided about 60 minutes before a feeding and, like all interactions, needs to be progressed in response to the infant’s cues. A Cochrane review and recent meta-analysis summarized the evidence on massage that included both tactile and kinesthetic stimulation in most of the studies. Massage with kinesthetic stimulation increased weight gain and decreased length of stay by

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4.4 days but does not appear to impact NBAS scores.258,264 No studies found negative effects of the massage interventions. Only a few studies have compared massage to other interventions. One found that massage and kangaroo care were equally effective in reducing length of stay and increasing weight in infants after 5 days of intervention 3 times per day. While additional research is needed on the effect of massage provided by staff versus parents, the similar results between massage and kangaroo care suggest that parents can support their infant’s development through either intervention.

Physical Activity Infants born preterm are at high risk for osteopenia, which may increase with limited physical activity in the NICU. Several studies have been conducted to determine the efficacy of physical activity programs to increase bone mineral density and weight gain. The physical activity programs typically consist of extension and flexion, range-of-motion exercises with end range holding in flexion to elicit pushing against resistance of the infant’s upper and lower limb movement. Physical activity programs are administered for several minutes at a time several times a week for at least 2 weeks. A Cochrane review concluded that physical activity for hospitalized preterm infants may have small short-term but no long-term effects on bone mineralization and growth.64 Physical activity programs are not recommended based on the evidence and high staff time commitment required.218

Facilitated Movement Physical therapists and parents can play a role in supporting the development of infants born preterm during medical procedures. Facilitated tucking during suctioning has been found to reduce stress and pain in some studies while not in others.3,106,197 Supporting an infant during painful or stressful caregiving procedures provides the physical therapist the opportunity to observe the infant’s behavioral responses and identify individualized therapeutic strategies to enhance the infant’s efforts at self-regulation. In addition, facilitation may promote movement patterns similar to those used by the infant while in utero and

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reduce maladaptive motor behaviors during caregiving. Although the primary role of the physical therapist in the NICU is to support the development of the infant through a team-based intervention, there are times when direct intervention is warranted. However, direct therapy in the NICU needs to be based on the infant’s readiness to interact and in support of the team and family goals to enhance development. Only a few studies have evaluated the outcomes from direct therapy intervention in the NICU, providing mixed results that are preliminary in nature.53,84,96 Interventions that combine direct intervention and parent education in order to prepare the parent to provide the interventions are ideal.231 Spittle et al. published a Cochrane review summarizing the findings of interventions that started in the NICU in most cases and continued into the home. Although additional research is needed, the review concluded that early intervention including parent and therapist interaction with the infant could improve cognitive outcomes at least in the short term.231,232 Collaboration with parents will allow for the goal of daily positive motor and developmental experiences prior to NICU discharge and into the community.

Discharge Planning Parents are a consistent presence in the lives of most infants born preterm and are best suited to support the infant’s development. This process must start at the time of NICU admission and continue during the transition to home after NICU discharge. In the NICU, parents can play a role in many aspects of caregiving. As discussed previously, parents can provide support through kangaroo care, facilitated tucking, and incorporating sensory monitoring practices into their interaction. However, all NICU staff must be involved in this goal of engaging parents in the developmental care of their preterm infant.82 In preparation for the infant’s discharge to home, parents may benefit from more focused education on ways to support development. Many parents report they are not sure how to support their infant’s development in the first weeks and months at home.83 Parent education programs on caregiving have been

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developed and implemented by nursing staff or developmental care teams in the NICU with a goal of reducing maternal stress or increasing mother–child interactions.115,181,214 However, few interventions have focused on helping parents learn to support development through social interaction and age-appropriate play in the first months of life.53,84 Physical therapists working in the NICU have an important role in helping parents prepare to support their infant’s development during and after the transition to home. Physical therapists can help parents build a developmentally supportive relationship with their infant prior to discharge that will extend into the home environment. Working with parents to identify the infant’s readiness cues for social interaction in the NICU will increase their ability to identify opportunities for tummy time, reaching, and other developmental play that support motor and cognitive development in the first year of life. In addition to helping parents support their infants’ development, physical therapists have a key role in helping to engage parents in NICU follow-up programs and communitybased interventions. Although providers in the NICU may assume that all parents will seek developmental services after discharge, evidence suggests this is not always the case. In one study, the degree of parental developmental concerns and intent to access early intervention services were more related to maternal factors than infant factors, including the presence of IVH or white matter brain injury.201 This suggests that prior to discharge NICU providers should open a dialogue about risk factors and parental beliefs and share any available evidence on time-sensitive interventions while recognizing the parents’ right to opt in and out of developmental services during the transition to home.

Developmental Follow-up For many high-risk infants and their families, life after discharge from the NICU may involve referrals to a number of medical specialists (e.g., pulmonary, neurology, neurosurgery, ear nose and throat, gastroenterology, craniofacial, orthopedics), a local early intervention program, and developmental follow-up to a hospitalbased multidisciplinary clinic. Public law 108–446, known as the

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Individuals with Disabilities Education Improvement Act of 2004, or IDEA, ensures access to a free and appropriate public education to all children with disabilities. Part C of that law guarantees access to early intervention that may include physical therapy services in the home or other natural settings through local early intervention programs for children from birth up to age 3. Chapter 30 discusses early intervention services under IDEA. In some states, infants born very preterm with neonatal brain injury or other conditions warranting care in an NICU are automatically eligible for early intervention services. In other states, infants are required to show developmental delays. For infants who are eligible, referral before NICU discharge can ease the process for parents. The physical therapist plays an important role in the transition of infants and families to early intervention services. It is vital that therapists know the local laws and policies, have access to educational materials, and understand the referral process. The physical therapist should communicate with the therapist or agency providing early intervention services to the infant and family. Ideally, providers from the local early intervention agency would meet the family before the infant’s discharge from the NICU and thus ensure a smooth and less stressful transition into the family’s community. When this situation is not possible, the physical therapist can make contact with the community therapist and provide as much information as possible on the infant’s current development and interventions while in the NICU. Medical and developmental documentation may be helpful or necessary during the process of determining eligibility for early intervention. For infants who are not eligible at NICU discharge but may be in the future, providing parents with an understanding of what early intervention is and when to contact their local program is recommended. Referral to early intervention can be a complicated process for NICU providers, parents, and families. As in many settings, a navigator to help families complete the enrollment process for early intervention prior to or following discharge from the NICU is recommended.150 Infants born preterm or with NICU stays are at risk for developmental delays and medical complications that require ongoing follow-up. The onus is on NICU staff to ensure that the

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parents of each infant have a clear understanding of the recommendations for both medical and developmental follow-up care.78 The AAP and other organizations have outlined recommendations for follow-up of preterm infants.17,78,118,263 Many level III and IV nurseries as well as hospitals with neonatology fellowship programs in medicine and physical therapy have a developmental or NICU follow-up clinic for high-risk infants. Clinics vary in staffing and criteria for follow-up care. Factors such as birth weight, gestational age, Apgar scores, time on a ventilator, IVH, seizures, and environmental factors such as maternal drug or alcohol use are commonly used criteria. These follow-up programs monitor the health outcomes of graduates of the NICU.238 Results of developmental assessments administered at the followup clinic are useful in determining whether specialized therapy services are necessary beyond the provision of general recommendations for development and parent education. Referrals for nutrition, audiology, and ophthalmology also are made when necessary. As a team member in the follow-up clinic or early intervention, the physical therapist plays an important role in the examination and monitoring of infant neuromotor development, provides parent education and anticipatory guidance, and assists the family with coordination of care and referrals to other professionals and community agencies when appropriate.

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Resources and Professional Development According to the practice guidelines endorsed by the American Physical Therapy Association (APTA),245 physical therapists in the NICU should meet a series of competencies across multiple domains of neonatal clinical practice ranging from theoretical frameworks to social policy governing practice involving high-risk infants. In addition, physical therapists should participate in a minimum of 6 months of precepting in the NICU. Many NICUs lack an established training program where experienced clinical specialists provide precepting and ongoing mentoring to physical therapists new to neonatal care. Physical therapists may need to advocate for education and training resources.

Fellowship and Residency Programs Advanced training in neonatal physical therapy is available through pediatric residency and neonatal fellowship programs that are accredited by the American Physical Therapy Association (APTA). Currently, there are 17 APTA pediatric residencies offered across the United States. Although the focus of pediatric residencies is general pediatric physical therapy, many residencies offer opportunities for clinical practice in the NICU. More information about the APTA-accredited pediatric residency program can be found at: http://www.abptrfe.org/apta/abptrfe/Directory.aspx? navID=10737432672. In addition, there are currently two APTA-accredited neonatology fellowship programs. The goal of the fellowships is to prepare physical therapists for evidence-based, ethical, and appropriate neonatal physical therapist practice. More information about the fellowships is available at http://www.abptrfe.org/apta/abptrfe/Directory.aspx? ProgramType=Fellowship&navID=10737432673.

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An additional resource for physical therapists working in the NICU is the Neonatology Special Interest Group within the Section on Pediatrics of the APTA. Members can access resources such as clinical guidelines, APTA conference activities (e.g., Section on Pediatrics Annual Conference) related to neonatal physical therapist practice, and resources lists. There are also a number of opportunities to connect with other neonatal physical therapists either through social media and member groups. More information about the Neonatology Special Interest Group is available at: www.pediatricapta.org/special-interestgroups/neonatology/index.cfm.

Therapists Who Are New to the NICU Many therapists who practice in the NICU have previous experience with infants in outpatient or early interventions settings and in working with critically ill children in the pediatric intensive care unit. Therapists who are considering providing care in the NICU are encouraged to start their training with a mentored experience in the NICU follow-up program. This provides the therapist with an understanding of the likely range of outcomes for infants in the NICU. Onsight mentorship from an experienced NICU therapist is vital. Beginning with observation and gradually transitioning to supervised and then independent interaction with infant is considered best practice. Therapists new to the NICU should begin working with the least medically fragile infants approaching discharge and gradually increase acuity. Therapists will also benefit from shadowing other health care disciplines in the NICU to gain an appreciation for the role of nursing, physicians, and respiratory therapists in the NICU.

Cases Scenarios on Expert Consult The website includes three case scenarios. The first is a video demonstrating a physical therapy intervention in a Level II NICU. One written case is about an infant born extremely preterm who has significant respiratory difficulties, which affect his oral feeding development. The second is about an infant, born

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full-term, with Down syndrome. There is concern from the medical team that the infant’s mother has not bonded with her daughter. The website also includes a video demonstrating administration of the Test of Infant Motor Performance (TIMP).

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References 1. Abou Turk C, Williams A.L, Lasky R.E. A randomized clinical trial evaluating silicone earplugs for very low birth weight newborns in intensive care. J Perinatol. 2009;29(5):358–363. 2. Al Tawil K.I, El Mahdy H.S, Al Rifai M.T, et al. Risk factors for isolated periventricular leukomalacia. Pediatric Neurology. 2012;26:149–153. 3. Peyrovi H, AlinejadNaeini M.P, Mohagheghi P, Mehran A. The effect of facilitated tucking during endotracheal suctioning on procedural pain in preterm neonates: a randomized controlled crossover study. Glob J Health Sci. 2014;6(4):278– 284. 4. Almadhoob A, Ohlsson A. Sound reduction management in the neonatal intensive care unit for preterm or very low birth weight infants. Cochrane Database Syst Rev. 2015;1 CD010333. 5. Als H. Toward a synactive theory of development. Promise for the assessment and support of infant individuality. Infant Ment Health J. 1982;3:229–243. 6. Als H, Duffy F.H, McAnulty G, et al. NIDCAP improves brain function and structure in preterm infants with severe intrauterine growth restriction. J Perinatol. 2012;32:797–803. 7. Als H, Duffy F.H, McAnulty G, et al. Early experience alters brain function and structure. Pediatrics. 2004;113:846–857. 8. Als H. A synactive model of neonatal behavioral organization: framework for the assessment of neurobehavioral development in the premature infant and for support of infants and parents in the neonatal intensive care environment. Phys Occupat Ther Pediatr. 1986;6(3/4):3– 54. 9. Als H, Butler S. Newborn individualized developmental care and assessment program (NIDCAP): changing the future for infants and families in intensive and special care nurseries. Early Child Serv (San Diego). 2008;2:1–19.

2305

10. Als H, Butler S, Kosta S, McAnulty G.B. The Assessment of Preterm Infants’ Behavior (APIB): furthering the understanding and measurement of neurodevelopmental competence in preterm and full-term infants. Ment Retard Disabil Res Rev. 2005;11:94–102. 11. Als H, Gilkerson L, Duffy F.H, et al. A three-center randomized controlled trial of individualized developmental care for very low-birth weight infants: medical, neurodevelopmental, parenting and caregiving effects. J Dev Behav Pediatr. 2003;24(6):399–408. 12. Als H, Lawhon G, Duffy F.H, et al. Individualized developmental care for the very low birthweight preterm infant. JAMA. 1994;272(111):853–885. 13. Als H, Lester B.M, Tronick E.Z, Brazelton T.B. Manual for the Assessment of Preterm Infants’ Behavior (APIB). In: Fitzgerald H.E, Lester B.M, Yogman M.W, eds. Theory and research in behavioral pediatrics. New York: Plenum Press; 1982:65–132. 14. Als H, Lester B.M, Tronick E.Z, Brazelton T.B. Toward a research instrument for the assessment of preterm infants’ behavior. In: Fitzgerald H.E, Lester B.M, Yogman M.W, eds. and research in behavioral pediatrics. New York: Plenum Press; 1982:35–63. 15. Als H. Re: Ohlsson and Jacobs, NIDCAP: a systematic review and meta-analyses. Pediatrics. 2013;132(2):e552–e553. 16. Aly H, Hammad TA, Essers J, Wumg JT: Is mechanical ventilation associated with intraventricular hemorrhage in preterm infants? Brain Dev 34:201–205. 17. American Academy of Pediatrics Committee on Fetus and Newborn. Policy statement. Hospital discharge of the highrisk neonate. Pediatrics. 2008;122:1119–1126. 18. American Academy of Pediatrics Committee on Fetus and Newborn. Levels of neonatal care. Policy statement. Pediatrics. 2012;130:587–597. 19. American Lung Association (ALA). Lung disease data at a glance: respiratory distress syndrome (RDS) Available at: URL:. www.lungusa.org/site/pp.asp? c=dvLUK900E&b=327819.

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20. American Speech-Language-Hearing Association. Knowledge and skills needed by speechlanguage pathologists providing services to infants and families in the NICU environment [Knowledge and Skills] Available at: URL:. www.asha.org/policy. 21. Andiman S.E, Haynes R.L, Trachtenberg F.L, et al. The cerebral cortex overlying periventricular leukomalacia: analysis of pyramidal neurons. Brain Pathol. 2010;20:803– 814. 22. Arul N, Konduri G.G. Inhaled nitric oxide for preterm neonates. Clin Perinatol. 2009;36:43–61. 23. Athanasopoulou E, Fox J.R. Effects of kangaroo mother care on maternal mood and interaction patterns between parents and their preterm, low birth weight infants: a systematic review. Infant Ment Health J. 2014;35(3):245–262. . 24. Attar M.A, Donn S.M. Mechanisms of ventilator-induced injury in premature infants. Semin Neonatol. 2002;7:353–360. 25. Balinotti J.E, Chakr V.C, Tiller C, et al. Growth of lung parenchyma in infants and toddlers with chronic lung disease of infancy. Am J Respir Crit Care Med. 2010;181:1093– 1097. doi: 10.1164/rccm.200908-1190OC. 26. Ballabh P. Intraventrical hemorrhage in premature infants: mechanism of disease. Pediatr Res. 2010;67(1):1–8. 27. Ballabh P. Pathogenesis and prevention of intraventricular hemorrhage. Clin Perinatol. 2014;41(1):47–67. 28. Barbosa V.M. Teamwork in the neonatal intensive care unit. Phys Occupat Ther Pediatr. 2013;33(1):5–26. 29. Barbosa V.M, Campbell S.K, Berbaum M. Discriminating infants from different developmental outcome groups using the Test of Infant Motor Performance (TIMP) item responses. Pediatr Phys Ther. 2007;19:28–39. 30. Barbosa V.M, Campbell S.K, Smith E, Berbaum M. Comparison of Test of Infant Motor Performance (TIMP) item responses among children with cerebral palsy, developmental delay, and typical development. Am J Occupat Ther. 2005;59:446– 456. 31. Barnard K.E, Eyres S.J. Child health assessment. Part 2: the first

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year of life. Washington DC: (DHEW Publication No HRA79–25), Bethesda, MD. US Government Printing Office; 1979. 32. Bassler D, Stoll B.J, Schmidt B, et al. Using a count of neonatal morbidities to predict poor outcome in extremely low birth weight infants: added role of neonatal infection. Pediatrics. 2009;123:313–318. 33. Beck C. Postpartum depression: stopping the thief that steals motherhood. AWHONN. Lifelines. 1999;3:41–44. 34. Beligere N, Rao R. Neurodevelopmental outcome of infants with meconium aspiration syndrome: report of a study and literature review. J Perinatol. 2008;28:S93–S101. 35. Bellieni C.V, Buonocore G, Nenci A, et al. Sensorial saturation: an effective analgesic tool for heel-prick in preterm infants. Biol Neonate. 2001;80:15–18. 36. Berghella V, ed. Obstetric and maternal-fetal evidence-based guidelines. Vol. 2. UK: Informa Healthcare. Thompson; 2007. 37. Bersani I, Corsello M, Mastandrea M, et al. Neonatal abstinence syndrome. Early Hum Dev. 2013;89S4:S85–S97. 38. Bhethanabhotla S.A, Thukral M.J, Sankar R, et al. Effect of position of infant during phototherapy in management of hyperbilirubinemia in late preterm and term neonates: a randomized controlled trial. J Perinatol. 2013;33(10):795–799. 39. Bhutta A.T, Anand K.J. Vulnerability of the developing brain: neuronal mechanisms. Clin Perinatol. 2002;29(3):357– 372. 40. Birch J.L, Newell S.J. Managing gastro-esophageal reflux in infants. Arch Dis Child Fetal Neonatal. 2009;47:134–137. 41. Blanchard Y. Using the Newborn Behavioral Observations (NBO) system with at-risk infants and families: United States. In: Nugent J.K, Brazelton T.B, Patrauskas B, eds. The newborn as a person: enabling healthy infant development worldwide. Hoboken, NJ: John Wiley Sons; 2009:120–128. 42. Blanchard Y, Mouradian L. Integrating neurobehavioral concepts into early intervention eligibility evaluation. Infants Young Child. 2000;13(2):41–50. 43. Blanchard Y, Øberg G.K. Physical therapy with newborns: applying concepts of phenomenology and synactive theory

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to guide interventions. Physiother Theory Pract. 2015;31(6):377–381. 44. Bolisetty S, Dhawan A, Abdel-Latif M, et al. Intraventricular hemorrhage and neurodevelopmental outcomes in extreme preterm infants. Pediatrics. 2014;133(1):55–62. 45. Bradshaw W.T. Necrotizing enterocolitis: etiology, presentation, management, and outcomes. J Perinat Neonat Nurs. 2009;23:87–94. 46. Braun M.A, Palmer M.M. A pilot study of oral-motor dysfunction in “at-risk” infant. Phys Occupat Ther Pediatr. 1985;5(4):13–26. 47. Brazelton T.B, Nugent J.K. The Neonatal Behavioral Assessment Scale ed 4. Clin Dev Med. 2011;190. 48. Brazelton T.B. Crying in infancy. Pediatrics. 1962;29:579–588. 49. Bredemeyer S.L, Foster J.P. Body positioning for spontaneously breathing preterm infants with apnoea. Cochrane Database Syst Rev. 2012;6 CD004951. 50. Browne J.V, VandenBerg K, Ross E.S, Elmore A.M. The newborn developmental specialist: definition, qualifications and preparation for an emerging role in the neonatal intensive care unit. Infants Young Child. 1999;11(4):65–78. 51. Bruder M.B. Working with members of other disciplines: collaboration for success. In: Wolery M, Wilbers J.S, eds. Including children with special needs in early childhood programs. Washington, DC: National Association for the Education of Young Children; 1994:45–70. 52. Bruschweiler-Stern N. Mère à terme et mère prématurée (The full-term and preterm mother). In: Dugnat M, ed. Le monde relationnel du bébé (The relational world of the newborn). France: ERES: Ramonville Saint-Agne; 1997:19–24. 53. Cameron E.C, Maehle V, Reid J. The effects of an early physical therapy intervention for very preterm, very low birth weight infants: a randomized controlled clinical trial. Pediatr Phys Ther. 2005;17(2):107–119. 54. Campbell S.K. Organizational and educational considerations in creating an environment to promote optimal development of high-risk neonates. Phys Occupat

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Ther Pediatr. 1986;6(3/4):191–204. 55. Campbell S.K, Hedeker D. Validity of the Test of Infant Motor Performance for discriminating among infants with varying risk for poor motor outcome. J Pediatr. 2001;139:546–551. 56. Campbell S.K, Kolobe T.H.A. Concurrent validity of the Test of Infant Motor Performance with the Alberta Infant Motor Scale. Pediatr Phys Ther. 2000;12:1–8. 57. Campbell S.K, Kolobe T.H.A, Osten E.T, et al. Construct validity of the Test of Infant Motor Performance. Phys Ther. 1995;75(7):585–596. 58. Campbell S.K, Kolobe T.H.A, Wright B, Linacre J.M. Validity of the Test of Infant Motor Performance for prediction of 6-, 9-, and 12-month scores on the Alberta Infant Motor Scale. Dev Med Child Neurol. 2002;44:263–272. 59. Campbell S.K, Swanlund A, Smith E, et al. Validity of the TIMPSI for estimating concurrent performance on the Test of Infant Motor Performance. Pediatr Phys Ther. 2008;20:3– 210. 60. Cândia M.F, Osaku E.F, Leite M.A, et al. Influence of prone positioning on premature newborn infant stress assessed by means of salivary cortisol measurement: pilot study. Rev Bras Ter Intensiva. 2014;26(2):169–175. 61. Cardone I.A, Gilkerson L. Family administered neonatal activities: a first step in the integration of parental perceptions and newborn behavior. Infant Ment Health J. 1990;11:127–131. 62. Carter J.D, Mulder R.T, Bartram A.F, Darlow B.A. Infants in a neonatal intensive care unit: parental response. Arch Dis Child Fetal and Neonatal Ed. 2005;90:F109–F113. 63. Chawla S, Natarajan G, Rane S, et al. Outcomes of extremely low birth weight infants with varying doses and intervals of antenatal steroid exposure. J Perinat Med. 2010;38:419–423. 64. Chen S.-S, Tzeng Y.-L, Gau B.S, et al. Effects of prone and supine positioning on gastric residuals in preterm infants: a time series with cross-over study. Int J Nurs Stud. 2013;50(11):1459–1467. 65. Cifuentes J, Carlo W. Respiratory

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system. In: Kenner C, Lott J.W, eds. Comprehensive neonatal care: an interdisciplinary approach. ed 4. Philadelphia: Elsevier; 2007:1–15. 66. Cleveland L.M. Parenting in the neonatal intensive care unit. J Obstetr Gynecol Neonatal Nurs. 2008;37:666–691. 67. Coalson J.J. Pathology of new bronchopulmonary dysplasia. Semin Neonatol. 2003;8:73–81. 68. Coalson J.J. Pathology of bronchopulmonary dysplasia. Semin Perinatol. 2006;30:179–184. 69. Committee on Perinatal Health. Toward improving the outcome of pregnancy: recommendations for the regional development of maternal and perinatal health services. White Plains, NY: March of Dimes National Foundation; 1976. 70. Corff K.E, Seideman R, Venkataraman P.S, et al. Facilitated tucking: a nonpharmacologic comfort measure for pain in preterm neonates. J Obstetr Gynecol Neonatal Nurs. 1995;24:143–148. 71. Culhane J.F, Goldenberg R.L. Racial disparities in preterm birth. Semin Perinatol. 2011;35(4):234–239. 72. D’Apolito K. What is an organized infant? Neonatal Netw. 1991;10(1):23–29. . 73. Das Eiden R, Reifman A. Effects of Brazelton demonstrations on later parenting. J Pediatr Psychol. 1996;21(6):857–868. 74. De Moraes Barros M.C, Guinsburg R, de Araujo Peres C, et al. Neurobehavior of full-term small for gestational age newborn infants of adolescent mothers. Journal of Pediatrics. 2006;149(6):781–787. 75. De Vries L.S, Van Haastert I.L, Rademaker K.J, Koopman C, Groenendaal F. Ultrasound abnormalities preceding cerebral palsy in high-risk infants. J Pediatr. 2004;144:815–820. 76. Deng W, Pleasure J, Pleasure D. Progress in periventricular leukomalacia. Arch Neurol. 2008;65:1291–1295. 77. Diniz K.T, Cabral-Filho J.E, Miranda R.M, et al. Effect of the kangaroo position on the electromyographic activity of preterm children: a follow-up study. BMC Pediatr. 2013;13:79.

2311

78. Doyle L.W, Anderson P.J, Battin M, et al. Long term follow up of high risk children: who, why and how? BMC Pediatr. 2014;14:279. 79. Reference deleted in proofs. 80. Dubowitz L, Dubowitz V. The neurological assessment of the preterm and full-term newborn infant. London: Heinemann; 1981. 81. Dubowitz L, Dubowitz V, Mercuri E. The neurological assessment of the preterm and full-term newborn infant. ed 2. London: McKeith; 1999. 82. Dusing S.C, Van Drew C.M, Brown S.E. Instituting parent education practices in the neonatal intensive care unit: an administrative case report of practice evaluation and statewide action. Phys Ther. 2012;92(7):967–975. 83. Dusing S.C, Murray T, Stern M. Parent preferences for motor development education in the neonatal intensive care unit. Pediatr Phys Ther. 2008;20(4):363–368. 84. Dusing S.C, Brown S.E, Van Drew C.M, et al. Supporting play exploration and early development intervention from NICU to home: a feasibility study. Pediatr Phys Ther. 2015;27(3):267–274. 85. El Shahed A.I, Dargaville P, Ohisson A, Soll R.F. Surfactant for meconium aspiration syndrome in full term/near term infants. Cochrane Database Sys Rev. 2014;2 CD002054. 86. Engmann C.S, Wall G, Darmstadt B, et al. Consensus on kangaroo mother care acceleration. Lancet. 2013;382(9907):e26–e27. 87. Fanaroff A.A, Graven S.N. Perinatal services and resources. In: Fanaroff A.A, Martin R.J, eds. Neonatalperinatal medicine: diseases of the fetus and infant. St. Louis: Mosby; 1992:12–21. 88. Fanaroff A.A, Stoll B.J, Wright L.L, et al. Trends in neonatal morbidity and mortality for very low birthweight infants. Am J Obstetr Gynecol. 2007;196(147):e1–e8. 89. Feldman R. Parent-infant synchrony and the construction of shared timing: physiological precursors, developmental outcomes and risk conditions. J Child Psychol Psychiatry. 2007;48(3/4):329–354.

2312

90. Ferrari F, Bertoncelli N, Gallo C, et al. Posture and movement in healthy preterm infants in supine position in and outside the nest. Arch Dis Child Fetal Neonatal Ed. 2007;92(5):F386–F390. 91. Finnegan L.P. Neonatal abstinence syndrome: assessment and pharmacotherapy. In: Nelson N, ed. Current therapy in neonatal-perinatal medicine. ed 2. Ontario: BC Decker; 1990. 92. Fitzgerald M, Beggs S. The neurobiology of pain: developmental aspects. Neuroscientist. 2001;7(3):246–257. 93. Flegel J, Kolobe T.H.A. Predictive validity of the Test of Infant Motor Performance as measured by the BruininksOseretsky Test of Motor Proficiency at school age. Phys Ther. 2002;82:762–771. 94. Gaebler C, Hanzlik R. The effects of prefeeding stimulation program on preterm infants. Am Occup Ther. 1996;50:184– 192. 95. Gieron-Korthals M, Colon J. Hypoxic-ischemic encephalopathy in infants: new challenges. Fetal Pediatr Pathol. 2005;24:105–120. 96. Girolami G, Campbell S. Efficacy of a neuro-developmental treatment program to improve motor control in infants born prematurely. Pediatr Phys Ther. 1994;6(4):175–184. 97. Gomes-Pedro J, de Almeida J.B, Costa Barbosa A. Influence of early mother-infant contact on dyadic behavior during the first month of life. Dev Med Child Neurol. 1984;26:657– 664. 98. Gottfried A.W. Environment of newborn infants in special care units. In: Gottfried A.W, Gaiter J.L, eds. Infant stress under intensive care. Baltimore: University Park Press; 1985:23–54. 99. Grave G.D, Nelson S.A, Walker W.A, et al. New therapies and preventive approaches for necrotizing enterocolitis: report of a research planning workshop. Pediatr Res. 2007;62:510–514. 100. Graven S.N. Sound and the developing infant in the NICU: conclusions and recommendations for care. J Perinatol. 2000;20(8):S88–S93. 101. Graven S.N. Early neurosensory visual development of the

2313

fetus and newborn. Clin Perinatol. 2004;31(2):199–216. 102. Green N.S, Damus K, Simpson J.L, et al. Research agenda for preterm birth: recommendations from the March of Dimes. Am J Obstetr Gynecol. 2005;193:626–635. 103. Grenier I.R, Bigsby R, Vergara E.R, et al. Comparison of motor self-regulatory and stress behaviors of preterm infants across body positions. Am J Occup Ther. 2003;57(3):289–297. 104. Grunau E, Holsti L, Whitfield M, Ling E. Are twitches, startles, and body movements pain indicators in extremely low birth weight infants? Clin J Pain. 2000;16:37–45. 105. Hall R, Anand K.J.S. Physiology of pain and stress in the newborn. Neo Rev. 2005;6:e61–e68. 106. Hartley K.A, Miller C.S, Gephart S.M. Facilitated tucking to reduce pain in neonates: evidence for best practice. Adv Neonatal Care. 2015;15(3):201–208. 107. Haumont D, Amiel-Tison C, Casper C. NIDCAP and developmental care: a European perspective. Pediatrics. 2013;132(2):e551–e552. 108. Heidarzadeh M, Hosseini M.B, Ershadmanesh M, et al. The effect of kangaroo mother care (KMC) on breast feeding at the time of NICU discharge. Iran Red Crescent Med J. 2013;15(4):302–306. 109. Heinemann A.B, Hellstrom-Westas L, Hedberg Nyqvist K. Factors affecting parents’ presence with their extremely preterm infants in a neonatal intensive care room. Acta Paediatr. 2013;102(7):695–702. 110. HendersonSmart D.J, Cools F, Bhuta T, Offringa M. Elective high frequency oscillatory ventilation versus conventional ventilation for acute pulmonary dysfunction in preterm infants. Cochrane Database Sys Rev. 2007;18(3) CD000104. 111. Herzog M, Cerar L.K, Srsen T.P, et al. Impact of risk factors other than prematurity on periventricular leukomalacia. A population-based matched case control study. Eur J Gynecol Reprod Biol. 2015;187:57–59. 112. Hintz S.R, Kendrick D.E, Vohr B.R, et al. Changes in neurodevelopmental outcomes at 18 to 22 months’

2314

corrected age among infants of less than 25 weeks’ gestational age born in 1993-1999. Pediatrics. 2005;115:1645. 113. Hodgman J.E. Introduction. In: Gottfried A.W, Gaiter J.L, eds. stress under intensive care. Baltimore: University Park Press; 1985:1–6. 114. Hoehn T, Krause M.F, Buhrer C. Metal-analysis of inhaled nitric oxide in premature infants: an update. Klinische Pädiatrie. 2006;218:57–61. 115. Holditch-Davis D, White-Traut R.C, Levy J.A, et al. Maternally administered interventions for preterm infants in the NICU: effects on maternal psychological distress and mother-infant relationship. Infant Behav Dev. 2014;37(4):695–710. 116. Honrubia D, Stark A.R. Respiratory distress syndrome. In: Cloherty J.P, Eichenwald E.C, Stark A.R, eds. Manual of neonatal care. ed 5. Philadelphia: Lippincott Williams Wilkins; 2004:341–347. 117. Horton K.K. Pathophysiology and current management of necrotizing enterocolitis. Neonatal Netw. 2005;24:37–46. 118. Hwang S.S, Barfield W.D, Smith R.A. Discharge timing, outpatient follow-up, and home care of late-preterm and early-term infants. Pediatrics. 2013;132(1):101–108. 119. International Committee on Retinopathy of Prematurity (ICROP). An international classification of retinopathy of prematurity. Pediatrics. 1984;74:127–133. 120. International Committee on Retinopathy of Prematurity. The international classification of retinopathy of prematurity revisited. Arch Ophthalmol. 2005;123:991–999. 121. Jain N.J, Kruse L.K, Demissie K, Khandelwal M. Impact of mode of delivery on neonatal complications: trends between 1997 and 2005. J Matern Fetal Neonatal Med. 2009;22:491–500. 122. Jansson L.M, Velez M. Neonatal abstinence syndrome. Curr Opin Pediatr. 2012;24(2):252–258. 123. Jobe AH: The new bronchopulmonary dysplasia. Curr Opin Pediatr 23(2):167–172. 124. Jobe A.H, Bancalari E. Bronchopulmonary dysplasia. Am J

2315

Respir Crit Care Med. 2001;163(7):1723–1729. 125. Johnson N.N. The maternal experience of kangaroo holding. J Obstetr Gynecol Neonatal Nurs. 2007;36(6):568–573. 126. Kadhim H, Sebire G, Kahn A, et al. Causal mechanisms underlying periventricular leukomalacia and cerebral palsy. Curr Pediatr Rev. 2012;1:1–6. 127. Keefer C.H. The combined physical and behavioral neonatal examination: a parent-centered approach to pediatric care. In: Brazelton T.B, Nugent J.K, eds. Neonatal Behavioral Assessment Scale. London: Mac Keith Press; 1995:92–101. 128. Keller A, Arbel N, Merlob P, Davidson S. Neurobehavioral and autonomic effects of hammock positioning in infants with very low birth weight. Pediatr Phys Ther. 2003;15:3–7. 129. Reference deleted in proofs. 130. Keszler M. State of the art in conventional mechanical ventilation. J Perinatol. 2009;29:262–275. 131. Khwaja O, Volpe J.J. Pathogenesis of cerebral white matter injury of prematurity. Arch Dis Child Fet Neonat Ed. 2008;93(2):F153–F161. 132. Kinney H.C. Human myelinization and perinatal white matter disorders. J Neurol Sci. 2005;228:190–192. 133. Klaus H.H, Kennell J.H, Klaus P.H. Bonding. Reading. MA: Addison Wesley Longman; 1995. 134. Kleinman L, Rothman M, Strauss R, et al. The infant gastroesophageal reflux questionnaire revised: development and validation as an evaluative instrument. Clin Gastroenterol Hepatol. 2006;4(5):588–596. 135. Kocherlakota P. Neonatal abstinence syndrome. Pediatrics. 2014;134(2):e547–e561. 136. Korner A.F, Constantinou J, Dimiceli S, et al. Establishing the reliability and developmental validity of a neurobehavioral assessment for preterm infants: a methodological process. Child Dev. 1991;62(5):1200–1208. 137. Kurinczuk J.J, White-Koning M, Badawi N. Epidemiology of neonatal encephalopathy and hypoxic-ischaemic encephalopathy. Early Hum Dev. 2010;86:329–338. 138. Lasswell S.M, Barfield W.D, Rochat R.W, Blackmon L. Perinatal

2316

regionalization for very low-birth weight and very preterm infants: a meta-analysis. JAMA. 2010;304(9):992–1000. 139. Latal B. Prediction of neurodevelopmental outcome after preterm birth. Pediatr Neurol. 2009;40:413–419. 140. Lauderet S, Liu W.F, Blackington S, et al. Implementing potentially better practices to support the neurodevelopment of infants in the NICU. J Perinatol. 2007;27:S75–S93. 141. Lawhon G. Facilitation of parenting the premature infant within the newborn intensive care unit. J Perinatal Neonatal Nurs. 2002;16(1):71–83. 142. Leef K.H. Evidence-based review of oral sucrose administration to decrease the pain response in newborn infants. Neonatal Netw. 2006;25:275–284. 143. Lemmons J.A, Bauer C.R, Oh W, et al. Very low birth weight outcomes of the National Institute of Child Health and Human Development Neonatal Research Network, January 1995 through December 1996. NICHD Neonatal Research Network. Pediatrics. 2001;107(E1). 144. Lester B.M, Tronick E.Z, Brazelton T.B. The Neonatal Intensive Care Unit Network Neurobehavioral Scale procedures. Pediatrics. 2004;113(3 Pt 2):641–667. 145. Lester B.M, Tronick E.Z. NICU Network Neurobehavioral Scale. Baltimore: Brookes; 2005. 146. Lester B, Hawes K, Abar B, et al. Single-family room care and neurobehavioral and medical outcomes in preterm infants. Pediatrics. 2014;134(4):754–760. 147. Levene M.I, de Vries L. Hypoxic-ischemic encephalopathy. In: Martin R.J, Fanaroff A.A, Walsh M.C, eds. perinatal medicine. Philadelphia: Mosby; 2006:938–944. 148. Lightdale J.R, Gremse D.A. Section on gastroenterology, hepatology and nutrition: gastroesophageal reflux: management guidance for the pediatrician. Pediatrics. 2013;131(5):e1684–e1695. 149. Lin P.W, Nasr T.R, Stoll B.J. Necrotizing enterocolitis: recent scientific advances in pathophysiology and prevention. Semin Perinatol. 2008;32:70–82. 150. Little A.A, Kamholz K, Corwin B.K, et al. Understanding

2317

barriers to early intervention services for preterm infants: lessons from two states. Acad Pediatr. 2015;15(4):430–438. 151. Liu W.F. Comparing sound measurements in the singlefamily room with open-unit design neonatal intensive care unit: the impact of equipment noise. J Perinatol. 2012;32(5):368–373. 152. Liu W.F, Laudert S, Perkins B, et al. The development of potentially better practices to support the neurodevelopment of infants in the NICU. J Perinatol. 2007;27:S48–S74. 153. Lobel M. Pregnancy-specific stress, prenatal health behaviors, and birth outcomes. Health Psychol. 2008;27:604– 615. 154. Loftin R.W, Habli M, Snyder C.C, et al. Late preterm birth. Rev Obstet Gynecol. 2010;3(1):10–19. 155. Long T. Handbook of pediatric physical therapy. Baltimore: Lippincott, Williams, Wilkins; 2001. 156. Loo K.K, Espinosa M, Tyler R, Howard J. Using knowledge to cope with stress in the NICU: how parents integrate learning to read the physiologic and behavioral cues of the infant. Neonatal Netw. 2003;22(1):31–37. 157. Louie J.P. Essential diagnosis of abdominal emergencies in the first year of life. Emerg Med Clin North Am. 2007;25:1009– 1040. 158. Ludwig A.K, Sutcliff A.G, Diedrich K, Ludwig M. Postneonatal health and development of children born after assisted reproduction: a systematic review of controlled studies. Eur J Obstet Gynecol Reprod Biol. 2006;127:3–25. 159. Madlinger-Lewis L, et al. The effects of alternative positioning on preterm infants in the neonatal intensive care unit: a randomized clinical trial. Res Dev Disabil. 2014;35(2):490–497. 160. Malusky S.K. A concept analysis of family-centered care in the NICU. Neonatal Netw. 2005;24(6):25–32. 161. Malusky S, Donze A. Neutral head positioning in premature infants for intraventricular hemorrhage prevention: an evidence-based review. Neonatal Netw. 2011;30(6):381–396.

2318

162. Mantagos I.S, Vanderveen D.K, Smith L. Emerging treatments for retinopathy of prematurity. Semin Ophthalmol. 2009;24:82–86. 163. March of Dimes Perinatal Data Center. Special Care Nursery Admissions. 2011 Available at: URL:. https://www.marchofdimes.org/peristats/pdfdocs/nicu_summary 164. Marlow N, Wolke D, Bracewell M.A, Samara M. Neurologic and developmental disability at six years of age after extremely preterm birth. N Engl J Med. 2005;352(1):9–19. 165. Martin JB: Prevention of intraventricular hemorrhages and periventricular leukomalacia in the extremely low birth weight infant. Newborn Infant Nurs Rev 11(3):148–152. 166. Matthews T.J, Menacker F, MacDorman M.F. Infant mortality statistics from the 2002 period. Linked birth-death data set. Natl Vital Stat Rep. 2004;53:1–29. 167. McAnulty G.B, Duffy F.H, Butler S, et al. Individualized developmental care for a large sample of very preterm infants: health, neurobehaviour and neurophysiology. Acta Paediatr. 2009;98(12):1920–1926. 168. McAnulty G, Duffy F.H, Kosta S, et al. School-age effects of the newborn individualized developmental care and assessment program for preterm infants with intrauterine growth restriction: preliminary findings. BMC Pediatr. 2013;13:25. 169. McCormick M.C, McManus B.M. Cognitive and behavioral interventions. In: Nosarti C, Murray R, Hack M, eds. Preterm birth: long-term effects on brain and behaviours. Cambridge, UK: Cambridge University Press; 2010:237–250. 170. McCormick M.C, Richardson D.K. Access to neonatal intensive care. Future Child. 1995;5(1):162–175. 171. McManus B.M, Nugent J.K. A neurobehavioral intervention incorporated into state early intervention programming improves parent’s social interaction with their high risk newborn. J Behav Health Serv Res. 2012;39:1–8. 172. McMullen S.L. Transitioning premature infants supine: state of the science. MCN Am J Matern Child Nurs. 2013;38(1):8– 12 quiz 13-14. 173. McMullen S.L, Wu Y.W, Austin-

2319

Ketch T, Carey M.G. Transitioning the premature infant from nonsupine to supine position prior to hospital discharge. Neonatal Netw. 2014;33(4):194–198. . 174. Monterosso L, Kristjanson L.J, Cole J, Evans S.F. Effect of postural supports on neuromotor function in very preterm infants to term equivalent age. J Paediatr Child Health. 2003;39(3):197–205. 175. Morag I, Ohlsson A. Cycled light in the intensive care unit for preterm and low birth weight infants. Cochrane Database Syst Rev. 2013;8 CD006982. 176. Murney M.E, Campbell S.K. The ecological relevance of the Test of Infant Motor Performance Elicited Scale items. Phys Ther. 1998;78:479–489. 177. National Institute of Child Health and Development. Surgeon General’s Conference on the Prevention of Preterm Birth Washington, DC. June 16-17, 2008. Available at: URL:. www.nichd.nih.gov/about/meetings/2008/SG_pretermbirth/agenda.clm Presentations can be accessed at. http://videocast.nih.gov/PastEvents.asp?c=1. 178. Neff J.M, Eichner J.M, Hardy D.R, et al. Family-centered care and the pediatrician’s role. Pediatrics. 2003;112(3):691– 696. 179. Noble Y, Boyd R. Neonatal assessments for the preterm infant up 4 months corrected age: a systematic review. Dev Med Child Neurol. 2012;54:129–139. 180. Nugent J.K, Keefer C.H, Minear S, et al. Understanding newborn behavior early relationships: the Newborn Behavioral Observations (NBO) system handbook. Baltimore: Brookes; 2007. 181. Nugent J.K, Blanchard Y. Newborn behavior and development: implications for health care professionals. In: Travers J.F, Thies K.M, eds. The handbook of human development for health care professionals. Sudbury, MA: Jones Bartlett; 2005:79–94. 182. Nugent J.K, Petrauskas B.J, Brazelton T.B. The newborn as a person. Hoboken, NJ: Wiley Sons; 2009. 183. Nye C. Transitioning premature infants from gavage to

2320

breast. Neonatal Netw. 2008;27(1):7–13. 184. Oh W, Gilstrap I. Guidelines for perinatal care. ed 5. Old Grove Village, IL: American Academy of Pediatrics, American College of Obstetrician and Gynecologists; 2002. 185. Ohlinger J, Brown M.S, Laudert S, et al. Development of potentially better practices for the neonatal intensive care unit as a culture of collaboration: communication, accountability, respect, and empowerment. Pediatrics. 2003;111(4):e471–e481. 186. Ohlsson A, Jacobs S.E. Authors’ response: NIDCAP: a systematic review and meta-analyses of randomized controlled trials. Pediatrics. 2013;132(2):e553–e557. 187. Ohlsson A, Jacobs S.E. NIDCAP: a systematic review and meta-analyses of randomized controlled trials. Pediatrics. 2013;131(3):e881–e893. 188. Orenstein S.R, McGowan J.D. Efficacy of conservative therapy as taught in the primary care setting for symptoms suggesting infant gastroesophageal reflux. J Pediatr. 2008;152(3):310–314. 189. Palisano R.J. A collaborative model of service delivery for children with movement disorders: a framework for evidence-based decision making. Phys Ther. 2006;86(9):1295–1305. 190. Papile L.S, Burstein J, Burstein R. Incidence and evolution of the subependymal intraventricular hemorrhage: a study of infants with weights less than 1500 grams. J Pediatr. 1978;92:529–534. 191. Parad R.B. Bronchopulmonary dysplasia/chronic lung disease. In: Cloherty J.P, Eichenwald E.C, Stark A.R, eds. Manual of neonatal care. ed 6. Philadelphia: Lippincott Williams Wilkins; 2008. 192. Parker S, Zahr L.K, Cole J.C.D, Braced M.L. Outcomes after developmental intervention in the neonatal intensive care unit for mothers of preterm infants with low socioeconomic status. J Pediatr. 1992;120:780–785. 193. Pax Lowes L, Palisano R.J. Review of medical and developmental outcome of neonates who received extracorporeal membrane oxygenation. Pediatr Phys

2321

Ther. 1995;7:215–221. 194. Paz M.S, Smith L.M, LaGasse L.L, et al. Maternal depression and neurobehavior in newborns prenatally exposed to methamphetamine. Neurotoxicol Teratol. 2009;31(3):177–182. 195. Perkins E, Ginn L, Fanning J.K, Bartlett D.J. Effect of nursing education on positioning of infants in the neonatal intensive care unit. Pediatr Phys Ther. 2004;16:2–12. 196. Peters K.L, Rosychuk R.J, Hendson L, et al. Improvement of short- and long-term outcomes for very low birth weight infants: Edmonton NIDCAP trial. Pediatrics. 2009;124(4):1009–1020. 197. Peyrovi H, Alinejad-Naeini M, Mohagheghi P, et al. The effect of facilitated tucking position during endotracheal suctioning on physiological responses and coping with stress in premature infants: a randomized controlled crossover study. J Matern Fetal Neonatal Med. 2014;27(15):1555–1559. 198. Philbin M.K, Lickliter R, Graven S.N. Sensory experience and the developing organism: a history of ideas and view to the future. J Perinatol. 2000;20(8 Pt 2):S2–S5. 199. Phillips-Pula L, Pickler R, McGrath J.M, et al. Caring for a preterm infant at home: a mother’s perspective. J Perinatal Neonatal Nurs. 2013;27(4):335–344. 200. Pierrehumbert B, Nicole A, Muller-Nix C, et al. Parental post-traumatic reactions after premature birth: implications for sleeping and eating problems in the infant. Arch Dis Child Fetal and Neonatal Ed. 2003;88:400–404. 201. Pineda R.G, Castellano A, Rogers C, et al. Factors associated with developmental concern and intent to access therapy following discharge from the NICU. Pediatr Phys Ther. 2013;25(1):62–69. 202. Pineda R.G, Neil J, Dierker D, et al. Alterations in brain structure and neurodevelopmental outcome in preterm infants hospitalized in different neonatal intensive care unit environments. J Pediatr. 2014;164(1):52–60 e52. 203. Pineda R.G, Neil J, Dierker D. Alterations in brain structure and neurodevelopmental outcome in preterm infants hospitalized in different neonatal intensive care unit

2322

environments. J Pediatr. 2014;164(1):52–60 e2. 204. Polin R.A, Carlo W.A. Committee on Fetus and Newborn. From the American Academy of Pediatrics Clinical Report Surfactant replacement therapy for preterm and term neonates with respiratory distress. Pediatrics. 2014;133(1):156–163. 205. Prechtl H.F.R. General movement assessment as a method of developmental neurology: new paradigms and their consequences. The 1999 Ronnie MacKeith Lecture. Dev Med Child Neurol. 2001;12:836–842. 206. Radic J.A.E, Vincer M, McNeely P.D. Outcomes of intraventricular hemorrhage and posthemorrhagic hydrocephalus in a population-based cohort of very preterm infants born to residents in Nova Scotia from 1993 to 2010. J Neurosurg Pediatr. 2015;15:580–588. 207. Ranger M. Current controversies regarding pain assessment in neonates. Semin Perinatol. 2007;31:283–288. 208. Rauh V, Achenbach T, Nurcombe B, et al. Minimizing adverse effects of low birthweight: four-year results of an early intervention program. Child Dev. 1998;59:S44–S553. 209. Redshaw M.E. Mothers of babies requiring special care: attitudes and experiences. J Reprod Infant Psychol. 1997;15(2):109–121. 210. Reference deleted in proofs. 211. Reference deleted in proofs. 212. Rudolph C.D, Mazur L.J, Liptak G.S, et al. Guidelines for evaluation and treatment of gastroesophageal reflux in infants and children: recommendations of the North American Society for Pediatric Gastroenterology and Nutrition. J Pediatr Gastroenterol Nutr. 2001;32(Suppl 2):S1– S31. 213. Salisbury A.L, Lester B.M, Seifer R, et al. Prenatal cocaine use and maternal depression: effects on infant neurobehavior. Neurotoxicol Teratol. 2007;29(3):331–340. 214. Sanders L.W, Buckner E.B. The NBO as a nursing intervention. Ab Initio. Spring; 2009 Available at: URL:. www.brazelton-institute.com/abinitio2009spring. 215. Sarkar S, Shankaran S, Laptook A.R, et al. Screening cranial

2323

imaging at multiple times points improves cystic periventricular leukomalacia detection. Am J Perinatol. 2015;32(10):973–979. 216. Sarnat H.B, Sarnat M.S. Neonatal encephalopathy following fetal distress. Arch Neurol. 1976;33 696–675. 217. Schechner S. Drug abuse and withdrawal. In: Cloherty J.P, Eichenwald E.C, Stark A.R, eds. of neonatal care. ed 6. Philadelphia: Lippincott Williams Wilkins; 2008:213–227. 218. Schulzke S, Trachsel D, Patole S. Physical activity programs for promoting bone mineralization and growth in preterm infants. Cochrane Database Syst Rev. 2007;2 CD005387. 219. Serane V.T, Kurian O. Neonatal abstinence syndrome. Indian J Pediatr. 2008;75:911–914. . 220. Shah P.S, Aliwalas L, Shah V. Breastfeeding or breastmilk to alleviate procedural pain in neonates: a systematic review. Breastfeeding Med. 2007;2:74–82. 221. Shahheidari M, Homer C. Impact of the design of neonatal intensive care units on neonates, staff, and families: a systematic literature review. J Perinat Neonatal Nurs. 2012;26(3):260–266 quiz 267-268. 222. Shankaran S, Laptook A.R, Tyson J.E, et al. Evolution of encephalopathy during whole body hypothermia for neonatal hypoxic-ischemic encephalopathy. J Pediatr. 2012;160(4):567–572. 223. Sheikh S, Stephen T, Howell L, Eid N. Gastroesophageal reflux in infants with wheezing. Pediatr Pulmonol. 1999;28(3):181–186. 224. Short B.L. Extracorporeal membrane oxygenation: use in meconium aspiration syndrome. J Perinatol. 2008;28:S279– S283. 225. Silverman W.A. Incubator-baby side shows. Pediatrics. 1979;64:127–141. 226. Smith G.C, et al. Neonatal intensive care unit stress is associated with Brain Dev in preterm infants. Ann Neurol. 2011;70(4):541–549. 227. Smith L.M, Lagasse L.L, Derauf C, et al. Prenatal methamphetamine and neonatal neurobehavioral

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outcome. Neurotoxicol Teratol. 2008;30(1):20–28. 228. Soll R, Morley C.J. Prophylactic versus selective use of surfactant in preventing morbidity and mortality in preterm infants. Cochrane Database Syst Rev. 2001;2 CD00510. 229. Spiker D, Ferguson J, Brooks-Gunn J. Enhancing maternal interactive behavior and child social competence in low birthweight, premature infants. Child Dev. 1993;64:754–768. 230. Spittle A.J, Doyle L.W, Boyd R.N. A systematic review of the clinometric properties of neuromotor assessments for preterm infants during the first year of life. Dev Med Child Neurol. 2008;50:254–266. 231. Spittle A, et al. Early developmental intervention programmes post-hospital discharge to prevent motor and cognitive impairments in preterm infants. Cochrane Database Syst Rev. 2012;12 CD005495. 232. Spittle A.J, et al. Early developmental intervention programs post hospital discharge to prevent motor and cognitive impairments in preterm infants. Cochrane Database Syst Rev. 2007;18(2). 233. Steinberg Z. Pandora meets the NICU parent or whither hope? Psychoanal Dialogues. 2006;16(2):133–147. 234. Stern D.N. The motherhood constellation. New York: Basic Books; 1995. 235. Stevens B, Franck L. Special needs of preterm infants in the management of pain and discomfort. J Gynecol Neonatal Nurs. 1995;24:856–861. 236. Stevens T.P, Blennow M, Myers E.H, Soll R. Early surfactant administration with brief ventilation vs. selective surfactant and continued mechanical ventilation for preterm infants with or at risk for respiratory distress syndrome. Cochrane Database Syst Rev. 2007;4 CD003063. 237. Stevenson D.K, Wright L.L, Lemons J.A, et al. Very low birth weight outcomes of the National Institute of Child Health and Human Development Neonatal Research Network, January 1993 through December 1994. Am J Obstet Gynecol. 1998;179:1632–1639. 238. Stewart J. Early intervention and follow-up programs for the premature

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infant. In: Brodsky D, Ouellette M.A, eds. Primary care of the premature infant. Philadelphia: Saunders; 2008:285–288. 239. Stoll B.J, Hanse N.I, Bell E.F, et al. Neonatal outcomes of extremely preterm infants from the NICHD Neonatal Research Network. Pediatrics. 2010;126:443–456. 240. Stork E.K. Extracorporeal membrane oxygenation. In: Fanaroff A.A, Martin R.J, eds. Neonatalperinatal medicine: diseases of the fetus and infant. St. Louis: Mosby; 1992:876–882. 241. Stout A.U, Stout J.T. Retinopathy of prematurity. Pediatr Clin North Am. 2003;50:77–87. 242. Strodtbeck F. Opthalmic system. In: Kenner C, Lott J.W, eds. Comprehensive neonatal care. ed 4. Philadelphia: Saunders/Elsevier; 2007:313–332. 243. Stroustrup A, Trasande L. Epidemiological characteristics and resource use in neonates with bronchopulmonary dysplasia. Pediatrics. 2010;126:291–297. 244. Sumner G, Spietz A. NCAST caregiver/parent-infant interaction feeding manual. Seattle, WA: NCAST Publications, University of Washington, School of Nursing; 1994. 245. Sweeney J.K, Heriza H.B, Blanchard Y. Neonatal physical therapy: clinical competencies and NICU clinical training models. Part I. Pediatr Phys Ther. 2009;21(4):296–307. 246. Sweeney J.K, Heriza H.B, Blanchard Y, Dusing S. Neonatal physical therapy. Part II: practice frameworks and evidence-based practice guidelines. Pediatr Phys Ther. 2010;2(1):2–16. 247. Sweeney J, Gutierrez T. Musculoskeletal implications of preterm infant positioning in the NICU. J Perinatal Neonatal Nurs. 2002;16(1):58–70. 248. Symington A, Pinelli J. Developmental care for promoting development and preventing morbidity in preterm infants. Cochrane Database Syst Rev. 2006;2 CD001814. 249. Thomas A, Chess S. Temperament and development. New York: Brunner-Maze; 1977. 250. Thoyre S.M, Shaker C.S, Pridham K.F. The early feeding skill assessment for preterm infants. Neonatal Netw. 2005;24(3):7–16.

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251. Vain N.E, Szyld E.G, Prudent L.M, et al. Oropharyngeal and nasopharyngeal suctioning of meconium-stained neonates before delivery of their shoulders: multicenter, randomized, controlled trial. Lancet. 2004;364:597–602. 252. Vaivre-Douret L, Golse B. Comparative effects of 2 positional supports on neurobehavioral and postural development in preterm neonates. J Perinat Neonatal Nurs. 2007;21(4):323–330. 253. Vaivre-Douret L.K, Ennouri I, Jrad C, et al. Effect of positioning on the incidence of abnormalities of muscle tone in low-risk, preterm infants. Eur J Paediatr Neurol. 2004;8(1):21–34. 254. Vandenplas Y, Rudolph C.D, Lorenzo C, et al. Pediatric gastroesophageal reflux clinical practice guidelines: joint recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2009;49(4):498–547. 255. Vergara E, Anzalone M, Bigsby R, et al. Specialized knowledge and skills for occupational therapy practice in the neonatal intensive care unit. Am J Occupat Ther. 2006;54:641–648. 256. Vergara E.R, Bigsby R. Developmental and therapeutic interventions in the NICIU. Towson, MD: Brookes; 2004. 257. Verklan M.T. The chilling details: hypoxic-ischemic encephalopathy. J Perinatal Neonatal Nurs. 2009;23(1):59–68. 258. Vickers A, et al. Massage for promoting growth and development of preterm and/or low birth-weight infants. Cochrane Database Syst Rev. 2004;2 CD000390. 259. Volpe J.J. Neonatal encephalopathy: an inadequate term for hypoxic-ischemic encephalopathy. Ann Neurol. 2012;72(2):156–166. 260. Volpe J.R. Neurology of the newborn. ed 5. Philadelphia: Saunders/Elsevier; 2008. 261. Walden M. Pain in the newborn and infant. In: Kenner C, Lott J.W, eds. Comprehensive neonatal care. Philadelphia: Saunders/Elsevier; 2007:360–369.

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262. Walsh M.C, Szefler S.S, Davis J, et al. Summary proceedings from the bronchopulmonary dysplasia group. Pediatrics. 2006;117:S52–S56. 263. Wang C.J, McGlynn E.A, Brook R.H, et al. Quality-of-care indicators for the neurodevelopmental follow-up of very low birth weight children: results of an expert panel process. Pediatrics. 2006;117(6):2080–2092. 264. Wang L, He J.L, Zhang X.H. The efficacy of massage on preterm infants: a meta-analysis. Am J Perinatol. 2013;30(9):731–738. 265. Ward-Larson C, Horn R.A, Gosnell F. The efficacy of facilitated tucking for relieving procedural pain of endotracheal suctioning in very low birthweight infants. Am J Matern Child Nurs. 2004;29:151–156. 266. Watchko J.F. Identification of neonates at risk for hazardous hyperbilirubinemia: emerging clinical insights. Pediatr Clin North Am. 2009;56:671–687. 267. Widmayer S, Field T. Effects of Brazelton demonstration on early interaction of preterm infants and their teenage mothers. Infant Behav Dev. 1980;3:79–89. 268. Wiedemann J.R, Saugstad A.M, BarnesPowell L, Duran K. Meconium aspiration syndrome. Neonatal Netw. 2008;27:81–87. 269. Williamson D, Abe K, Bean C, et al. Current research in preterm birth. J Women Health. 2008;17:1545–1549. 270. Wilson-Costello D, Friedman H, Minich N, et al. Improved survival rates with increased neurodevelopmental disability for extremely low birth weight infants in the 1990s. Pediatrics. 2005;115:997–1003. . 271. Wilson-Costello D, Friedman H, Minich N, et al. Improved neurodevelopmental outcomes for extremely low birth weight infants in 2000-2002. Pediatrics. 2007;119:37–45. 272. Wiswell T.E, Graziani L.J. Intracranial hemorrhage and white matter injury in preterm infants. In: Spitzer A.R, ed. Intensive care of the fetus and neonate. ed 2. St. Louis: Mosby; 2005 (chapter 54). 273. Wolff P.H. Observations on human infants. Psychoanal Med. 1959;221:110–118.

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274. World Health Organization. International Classification of Functioning, Disability and Health. Geneva: WHO; 2001. 275. Xu H, Wei S, Fraser W.D. Obstetric approaches to the prevention of meconium aspiration syndrome. J Perinatol. 2008;28:S14–S18. 276. Yeh T.F, Lin H.C, Chang C.H, et al. Early intratracheal instillation of budesonide using surfactant as a vehicle to prevent chronic lung disease in preterm infants: a pilot study. Pediatrics. 2008;121:e1310–e1318. 277. Yost C.C, Soll R.F. Early versus delayed selective surfactant treatment for neonatal respiratory distress syndrome. Cochrane Database Syst Rev. 2000;2 CD001456.

Suggested Readings Als H. A synactive model of neonatal behavioral organization: framework for the assessment of neurobehavioral development in the premature infant and for support of infants and parents in the neonatal intensive care environment. Phys Occupat Ther Pediatr. 1986;6(3/4):3–54. Blanchard Y, Øberg G.K. Physical therapy with newborns: applying concepts of phenomenology and synactive theory to guide interventions. Physiother Theory Pract. 2015;31(6):377–381. Brazelton T.B, Nugent J.K. The Neonatal Behavioral Assessment Scale. Clin Dev Med 190. ed 4. London: MacKeith Press; 2011. Campbell S.K. Use of care paths to improve patient management. Phys Occupat Ther Pediatr. 2013;33:27–38. Spittle A.J, Orton P, Anderson R, et al. Early developmental intervention programmes post-hospital discharge to prevent motor and cognitive impairments in preterm infants. Cochrane Database Syst Rev. 2012;12 CD005495. Sweeney J.K, Heriza H.B, Blanchard Y, Dusing S. Neonatal physical therapy. Part II: practice frameworks and evidence-based practice guidelines. Pediatr Phys Ther. 2010;2(1):2–16. Sweeney J.K, Heriza H.B, Blanchard Y. Neonatal physical therapy: clinical competencies and NICU clinical training models. Part I. Pediatr Phys Ther. 2009;21(4):296–307. Symington A, Pinelli J. Developmental care for promoting development and preventing morbidity in preterm infants. Cochrane Database Syst Rev. 2006;2 CD001814.

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Volpe J.R. Neurology of the newborn. ed 5. Philadelphia: Saunders/Elsevier; 2008.

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Infants, Toddlers, and Their Families Early Intervention Services Under IDEA Lisa Chiarello, and Tricia Catalino

This chapter focuses on early intervention services in home and community settings under the US Individuals with Disabilities Education Improvement Act (IDEA) of 2004.107 Part C of the IDEA authorizes federal assistance to states to implement a system of early intervention services for eligible infants and toddlers, from birth to 3 years of age, and their families. The law mandates familycentered services in natural environments to promote the child’s development and participation in daily activities and routines. A relationship-based approach to early intervention in which the relationships among family members, providers, and administrators are valued as the foundation to effective care is recognized as best practice.57 The organizational system climate for Part C can be challenging as the federal and state governments strive to fiscally support this program. Providing services in early intervention is complex but very rewarding as therapists advocate for quality care for young children and their families. Therapists practicing in early intervention truly have the opportunity to

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integrate the science and art of physical therapy. This chapter critiques theory, policy, and methods of service delivery and analyzes research. The role of the physical therapist in this service system is discussed, with an emphasis on both unique contributions and the team processes needed for collaborative decision making and service provision. This chapter describes the components of our conceptual framework for physical therapy practice in early intervention presented in Fig. 30.1. These components include the factors (policy, philosophy, and people) and processes (evidenceinformed service delivery, family engagement, team collaboration, and service integration) that influence child and family outcomes in early intervention.

Background Information Early intervention is a multifaceted process to support infants and toddlers with developmental delay and disability and their families. Early intervention is predicated on the notion that early childhood is a sensitive period in development and families have the primary role of nurturing and providing early learning experiences for their children. The concept of sensitive period in early childhood refers to the significant influence the environment and experiences have on brain maturation during this time.100 Shonkoff and Meisels130 defined early intervention as follows: Multidisciplinary services … to promote child health and wellbeing, enhance emerging competencies, minimize developmental delays, remediate existing or emerging disabilities, prevent functional deterioration, and promote adaptive parenting and overall family functioning. These goals are accomplished by providing individualized developmental, educational, and therapeutic services for children in conjunction with mutually planned support for their families. (pp xvii–xviii) This definition embraces the concepts of prevention, remediation, experiential learning, individuality, and family centeredness and is consistent with the definition of early intervention in IDEA. IDEA defines early intervention as follows: Developmental services that are provided under public supervision, are provided at no cost except where federal or state

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law provides for a system of payments by families, including a schedule of sliding fees, and are designed to meet the developmental needs of an infant or toddler with disability in any one or more of the following areas: physical development; cognitive development; communication development; social or emotional development; or adaptive development. In addition, IDEA stipulates that services are selected in collaboration with the parent. This definition emphasizes the service delivery aspect of early intervention; the primary premises are that services must be developmental and involve parent collaboration. Hebbeler and colleagues70 have discussed that the Part C early intervention program is diverse in that it serves as both an intervention program to ameliorate the effects of disability for children with moderate to severe involvement and as a prevention and intervention program for children at risk for delay or with mild involvement who will attain skills comparable with their peers. To be effective in early intervention, physical therapists must embrace responsibilities that go beyond technical knowledge and skill. Early intervention providers are required to partner with families and other providers, deliver services in multiple environments, comply with federal and state policy, and provide interventions informed by current evidence and principles of best practice. In addition to expertise in motor development, adaptive function, and self-care, it is essential that physical therapists have practical knowledge of family ecology and children’s social, emotional, cognitive, communication, and language development.89,131

Idea Part C: Infants and Toddlers The Education of the Handicapped Act Amendments of 1986108 provided for family-centered services for infants and toddlers from birth to 3 years of age. This law was subsequently reauthorized and amended as Part C of the Individuals with Disabilities Education Act Amendment (IDEA) of 1997106 and Individuals with Disabilities Education Improvement Act (IDEIA) of 2004,107 commonly referred to as IDEA. Part C mandates early intervention services based on the following declaration:

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FIG. 30.1 Conceptual framework for physical therapy

practice in early intervention.

[That] Congress finds that there is an urgent and substantial need (1) to enhance the development of infants and toddlers with disabilities and to minimize their potential for developmental delay, and to recognize the significant brain development that occurs during a child’s first 3 years of life; (2) to reduce the educational costs to our society, including our Nation’s schools, by minimizing the need for special education and related services after infants and toddlers with disabilities reach school age; (3) to maximize the potential for their independently living in society; (4) to enhance the capacity of families to meet the special needs of their infants and toddlers with disabilities; and (5) to enhance the capacity of state and local agencies and service providers to identify, evaluate, and meet the needs of all children, particularly minority, low-income, inner-city, and rural children and infants and toddlers in foster care. (IDEIA, Part C, Sec. 631) The legislation details the conditions that a state must meet in order to receive federal funding. In addition, Part C clearly articulates particular philosophies of care related to individualized family care, coordination of services, and services in natural environments. Part C stipulates that early intervention services are designed to meet the developmental needs of an infant or toddler with a developmental delay or disability (or diagnosed physical or mental condition with high probability of resulting in developmental delay) in any one or more of the following areas: physical development, cognitive development, communication development, social or emotional development, and adaptive development. Each state has its own definition of developmental

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delay, and thus eligibility for early intervention varies from state to state.70 In Alabama, children have to demonstrate a developmental delay of 25% in one of five areas; in the District of Columbia, children have to demonstrate a delay of 25% in two areas; and in Arizona, children have to demonstrate a delay of 50% in one area. The list of early intervention services identified in the legislation is provided in Box 30.1. Services are to be provided by qualified personnel based on state licensing or certification requirements. Physical therapists are included under qualified personnel.

B O X 3 0 . 1 Early

Intervention Services Included

in the Individuals With Disabilities Education Improvement Act • Family training, counseling, home visits • Special instruction • Speech-language pathology and audiology services and sign language and cued language services • Occupational therapy • Physical therapy • Psychological services • Service coordination • Medical services only for diagnostic or evaluation purposes • Early identification, screening, and assessment services • Health services necessary to enable the infant or toddler to benefit from the other early intervention services • Social work services • Vision services • Assistive technology devices and services • Transportation and related costs necessary to receive early intervention services The components of service delivery identified in Part C are included in Box 30.2. The five major components are as follows: • A public awareness program • A central directory of information • A comprehensive child find system • Comprehensive evaluations and assessments

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• An individualized family service plan (IFSP) To receive funding under Part C, the states must comply with all provisions as detailed in IDEA. The law also states general guidelines on when, how, and where evaluations/assessments, IFSPs, and interventions must be planned, conducted, and implemented. For detailed information, therapists are advised to read the legislation and regulations, which can be accessed through several websites. The document Providing Physical Therapy Services Under Parts B & C of the Individuals with Disabilities Education Act (2nd edition) published by the American Physical Therapy Association95 elaborates on the federal law and the role of the physical therapist.

B O X 3 0 . 2 Components

of the Part C Infant and

Toddler Program of the Individuals With Disabilities Education Improvement Act • Early intervention services for all infants and toddlers with disabilities (from birth to age 3) and their families • Child Find: a system to identify, locate, and evaluate children with disabilities • Comprehensive, multidisciplinary evaluation (MDE) • Individualized family service plan (IFSP) • Procedural safeguards • Public awareness program • Central directory • Comprehensive system of personnel development • Administration by a lead agency • State interagency coordinating council

Family-centered Care Although family-centered care is considered best practice in providing health care to all children, in early intervention this philosophy of care is essential because families are considered a direct recipient of services. Family-centered care is based on the premise that the family plays the central role in the life of a child.

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Parent self-efficacy beliefs have a direct influence on child development, adaptive behavior, and psychological well-being.49,138 The underlying tenet is that optimal family functioning promotes optimal child development.131 Family-centered care is a process that respects the rights and roles of family members while providing intervention to achieve child and family outcomes that promote well-being and quality of life. Family-centered care is a comprehensive approach to service that when individualized may include aspects of both child- and parent-centered approaches as therapists support the child’s development and function and endeavor to address the concerns of the family. Several definitions of family-centered intervention have been presented.3,50,82,87,94 The common threads are that it is a philosophy and approach to service delivery based on core beliefs of (1) respect for children and families, (2) appreciation of the family’s impact on the child’s well-being, and (3) family-professional collaboration. The definition by Law et al.87 is widely used: Family-centered service is made up of a set of values, attitudes, and approaches to services for children with special needs and their families. Family-centered service recognizes that each family is unique; that the family is the constant in the child’s life; and that they are the experts on the child’s abilities and needs. The family works with service providers to make informed decisions about the services and supports the child and family receive. In familycentered service, the strengths and needs of all family members are considered. Perhaps the most important differences between family-centered and professional-driven approaches are that the professional’s role is partly defined by the resources and priorities of each child and family and that service decisions are not based solely on the professional’s knowledge and expertise. Initially, the less-defined role may be unsettling to professionals, whose education and expertise are biased toward addressing a child’s impairments and activity limitations. In a review of early intervention approaches internationally, Dirks and Hadders-Algra38 stated, “a major change in attitude and behavior is needed to implement family-centered services.” The key elements of family-centered care, proposed by the

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American Academy of Pediatrics and the Institute for Patient and Family-Centered Care,3 influence provision of services to families and children. The elements are as follows: • Listening to and respecting each child and family, honoring diversity, and including family preferences in service delivery. • Having flexible organization systems to offer family choices and providing services that are responsive to family needs, beliefs, and cultural values. • Sharing complete and honest information in useful ways so family can participate in decision making and care. • Ensuring formal and informal support to the child and family. • Promoting family-professional collaboration at all levels of health care. • Appreciating and fostering strengths and building family capacity. These elements appear to be common sense and often conceal the complexity of application to practice. Service providers may be inclined to regard family-centered care as not being different from what they have always practiced. Implicit in the family-centered approach is that the role of the family extends beyond involvement in the care of the child, to being beneficiaries of interventions.48 The informational, educational, and health needs of the family are addressed in concert with those of the child based on the premise that supporting the family promotes the child’s development. Family-centered care is founded on a parent–professional partnership. Dunst, Trivette, and Snyder defined parent– professional partnership as follows51: Parents and other family members working together with professionals in pursuit of a common goal where the relationship between the family and the professional is based on shared decision-making and responsibility and mutual trust and respect. Practitioners provide information and support to enable the family to make decisions and to enhance family competency in caring for and nurturing the child.48 Information sharing is reciprocal and acknowledges that families know their children the best.21 Families share valuable information about the child and family, priorities and concerns, and expectations of early intervention. Practitioners inquire about the child’s health,

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development, daily activities and routines, and family resources and supports. Practitioners are responsive to the family’s need for information about their child, community resources, and preparation for the future to enable families to effectively advocate for their children. As an example, therapists provide families information regarding their child’s diagnosis and prognosis with honesty and collaborate to identify opportunities and supports so children can participate in life to their fullest potential. Dunst and Dempsey have found that a positive parent–professional partnership is related to parent’s self-efficacy and sense of control.46 Parents value providers who are caring individuals with positive interpersonal and communication skills with families and children.93 To provide family-centered care, physical therapists are encouraged to expand their knowledge to include understanding of the multidimensional aspects of the family including cultural values, interests, child-rearing practices, resources, and supports. It is important for the early intervention team to address the basic needs of the family.127 Knowledge of the family is critical to avoid the concerns that with family-centered care professionals may be expecting too much from families, thus becoming a source of stress, as opposed to support.88,93

Effectiveness of Family-Centered Care Several reviews support the effectiveness of family-centered care.37,47,49,50,60,62,85 Similar to other areas of research in early intervention, a thorough synthesis of findings is challenging because studies vary in how family-centered care is defined, characteristics of families and children, service settings, and outcomes measured. For children with developmental disabilities, as noted in these reviews, family outcomes associated with familycentered care include knowledge of child development, perception of children’s behavior, participation in intervention programs, satisfaction with services, developmental appropriateness of the home environment, parenting behaviors and competence, the parent–child relationship, enjoyment of parenting, family functioning, self-efficacy, sense of control, and empowerment. Family-centered care has also been associated with children’s

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health, development, social-emotional competence, and functioning. Elements of family-centered care associated with these positive outcomes include communication, information sharing, collaboration, fostering family involvement and choice, building on strengths, and providing support. Despite the evidence, the complex and multidimensional nature of family-centered care and early intervention services under Part C of IDEA make it difficult to translate research into practice. A meaningful understanding of the effectiveness of familycentered behaviors requires consideration of the characteristics of the child, family, therapists, intervention strategies, and service delivery systems.43 Research on processes of family-centered care indicates that outcomes for children and families are mediated by parent self-efficacy.37,47,49,138 Provider behaviors fostering parent involvement and choice are more strongly associated with positive outcomes than behaviors related to fostering the parent– professional relationship.50

Parent Self-Efficacy, Family Engagement, and Participation As parental self-efficacy is a key mediator of family-centered care, it is important for services to focus on optimizing parents’ beliefs that they (1) can access resources and supports and (2) have control and ability to take actions to ensure the outcomes they want for their family. We recommend that therapists have conversations with families to discuss whether family priorities and concerns are being addressed. It is also important to understand if families feel competent in nurturing their children’s development. These conversations will enable therapists to learn how best to support the family, build on family strengths, enhance family competence,48 and foster collaborative processes. The family-centered approach, in addition to expanding the role of service providers, expands the role of the family, particularly parents. This might include learning and using skills related to advocacy, negotiation, collaboration, and intervention strategies. Because of the fragmented child health system, parents have to coordinate not only developmental services but also services for

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primary health care, public health programs, specialized medical care, and behavioral health services. Some families may not be receiving the services they need and require assistance in accessing and utilizing services and community resources. Families experiencing difficulty in adapting to caring for a child with special needs may need more formal support from the early intervention team.16 We believe that it is important for families to be engaged in the early intervention process. King and Chiarello82 have proposed that family engagement may also be a mediator between familycentered practices and outcomes. Family engagement refers to their active investment and involvement as a partner in the intervention.83 Engagement reflects a family receptiveness and commitment to the process and their confidence with participating in the intervention. Engagement is a complex and dynamic process that involves a relationship between the family and the service providers. Engagement can vary over time and may be influenced by characteristics of the family, providers, intervention approach, and system of care. Three dimensions of engagement are affective, cognitive, and behavioral investment.83 Affective engagement refers to emotional involvement including having a hopeful attitude and trusting in the process and provider. Cognitive engagement entails a commitment to the goals, a belief in the relevance of the intervention, and a willingness to invest time and effort. Behavioral engagement signifies confidence in being able and supported to participate in intervention tasks. “Client engagement requires a sharing of power and therapist skill in creating a therapeutic environment that is safe, open, and truly collaborative.”82 As supported by research,48,50,60,62 we encourage practitioners to provide opportunities for and support family involvement and choice in the early intervention process. The extent and type of participation will vary depending on factors unique to each family. The premise is that families have a right and responsibility to select the way in which they will be involved in early intervention services. Family involvement is viewed as a continuum rather than a hierarchy and may change over time. At times some parents may be minimally involved, either because of unfamiliarity with the service delivery system or because of the difficulty balancing work

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and family commitments. A family with a demanding work schedule may give permission for professionals to provide early intervention at a child’s child care center but not at home. Parents may view the child care provider as an important person in the child’s life who is helping support the family’s goals for the child. It is important for practitioners to be flexible and responsive to family choices. Families may actively seek information from the professional team regarding the child’s diagnosis, prognosis, and ideas on how to enhance their children’s development. Collaboration and partnership are achieved when a family not only seeks information from professionals but also offers information and actively participates in the development and implementation of service plans. Service coordination and advocacy represent levels of family participation that involve management of services provided and educating others about children with special needs. Ongoing communication between the family and practitioners and revisiting family needs and participation are integral to family-centered services. Box 30.3 highlights reflections and considerations for engaging families in the intervention process. It is important for physical therapists to invite parents to participate, identify and discuss barriers, and provide supports to enable their participation.

B O X 3 0 . 3 Engaging

Families: Reflections and

Considerations Therapists providing services in early intervention may experience a situation in which a parent watches TV, talks on the phone, or does a chore during the session. Instead of making a judgment about the parent, we encourage therapists to reflect on the situation and consider how they can respond.

Reflections The parent may not understand or have a different perspective regarding family involvement. The parent may need respite: time alone or to accomplish a task.

Considerations • Share with the family the philosophy of early intervention and

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how much their role is valued. • Discuss the various ways they can be involved during a session. • Ask what they would like the focus of the session to be. • Share how we can provide support to enable them to be involved. • Be patient, share highlights of the session, find moments during the session to connect with the family, and continue to invite families to be involved. • Incorporate watching TV and chores into the session activities and together develop strategies on opportunities to interact with the child or possibilities to have the child involved in selfplay. • Agree on a balance so the family has some time to rest or accomplish a task and some time to be involved in the session activities. • Discuss family’s interest in or need for respite resources.

Effectiveness of Early Intervention Research on the benefits of early intervention are equivocal and vary across children and families.25,61,65 This reflects the complex and multifaceted nature of early intervention services. Methodologic challenges have contributed to limited research and ability to generalize findings across children and settings. Research has focused on interventions for infants and toddlers experiencing delays who are at environmental or biologic risk. Interventions tend to be broad in scope with little detail on specific strategies and procedures, and the potential range of child and family outcomes has not been explored. Research is recommended to help therapists understand the complex influences, both direct and indirect, of child, family, environment, and service factors on meaningful outcomes for children and families.17 Consequently, the knowledge of what interventions are most effective based on child and family characteristics remains unclear. Physical therapists will find it particularly challenging to integrate and apply research findings on early intervention for three reasons: (1) a large proportion of the literature and research comes from the fields of medicine, psychology, sociology, and early

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childhood education and concentrates on health, cognition, and behavior; (2) the role of physical therapy as part of an early intervention team has seldom been addressed; and (3) welldesigned studies with large samples, such as the Infant Health and Development Program,18,110 have targeted “at-risk populations” of infants at risk for global developmental delay, speech and language disorders, or social-emotional maladjustment.25,61 Outcomes for children and families participating in Part C early intervention are generally positive. The National Early Intervention Longitudinal Study69 found that infants and toddlers participating in Part C increased motor, social, and cognitive functioning and families felt competent in caring for their children’s basic needs and felt they knew how to help their children learn and develop.13 Data collected by states on child outcomes showed that 66% to 71% of the children receiving Part C early intervention had greater than expected growth in social relationships, use of knowledge and skills, and taking action to meet needs, and 59% to 61% exited early intervention functioning within age expectations in these areas.56 The states also reported that 87% to 90% of families receiving Part C services know their rights, effectively communicate their children’s needs, and help their children develop and learn.55 A positive relationship among parents’ perceptions of Part C services, statecollected data on family outcomes, and enhanced family quality of life has been reported.58 Although results are encouraging, there are concerns about the quality of the data, as states continue to improve the reliability and validity of their data collection and reporting. Empirical support for early intervention for children with physical disabilities and their families is inconclusive. Children with motor impairment have shown fewer functional gains compared to children with delays in other areas.68 Findings for children with disabilities indicate that severity, not the type of physical disability, is a strong predictor of change; children with mild disabilities showed greater gains than children with severe disabilities, regardless of the intensity of services.68 Normreferenced developmental assessments are not responsive to changes that children with severe physical disabilities are capable of achieving.99 Reviews and meta-analyses on the effectiveness of early intervention practices on motor outcomes include studies that

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are not specific to Part C,20,65,98,102 define early intervention broadly to include interventions that take place in the neonatal intensive care unit or other program specific settings,102 only include infants at risk for cerebral palsy,65,98 or the interventions were heterogeneous making it difficult to generalize results.20,65,98,102 As an example, a systematic review of the effects of early intervention on motor development included studies with children both at high risk for or with developmental motor disorder.20 This review did consider separate effects of interventions provided in the neonatal intensive care unit from interventions conducted later in infancy and early childhood. Among studies conducted following discharge from the neonatal intensive care unit, positive effects on motor development were found for what was categorized as specific or general developmental programs, whereas no support was found for interventions categorized as neurodevelopmental treatment or Vojta. It is challenging to translate this evidence to practice because of the variety of interventions considered as specific or general developmental programs, ranging from treadmill training to enhancing parent–infant interaction, and differences in method of service delivery including who provided the intervention. There is limited evidence on the effects of early intervention on adaptive function, participation in family and community life, ease of caregiving, and family functioning. Keeping abreast of current research related to amounts and types of interventions for young children is important as therapists and families make decisions about early intervention services. However, evidence on the effects of specific procedural interventions and the amount of physical therapy services is hard to interpret and apply to early intervention. In early intervention, the team makes decisions regarding types and amount of services based on child and family needs. Studies on amount of services do not account for the confounding effects of practice and learning supported by family and other caregivers throughout a child’s daily life. Research is needed to examine the effects of various schedules of service delivery in early intervention such as scheduling more frequent visits during team-identified periods when children are on the verge of learning a new activity or less frequent visits when families feel comfortable and confident implementing successful strategies

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with their children during daily routines.

Foreground Information Providing Early Intervention Services Role of the Physical Therapist Part C of IDEA and the American Physical Therapy Association122 support the role of physical therapists in early intervention. Acquisition of motor skills is a major part of early development, and young children are sensorimotor learners.89 Physical therapists, as members of the early intervention team, provide interventions to promote children’s activity and participation, including motor learning, environmental adaptations, assistive technology, family support, and education. As health care professionals recognized as movement specialists,5 physical therapists have expertise in developing body functions and structures of the neuromuscular, musculoskeletal, cardiopulmonary, and integumentary systems and how impairments in these systems impact early development. This enables therapists to provide individualized recommendations for activities, activity adaptations, and environmental modifications that not only promote motor development but also enable exploration, social interactions, and play. Physical therapists also have a role in health promotion and prevention,124 including discerning risk factors for secondary health complications (e.g., limitation in physical activity and obesity), fostering safety in the environment (e.g., use of outlet protectors, baby gates), and identifying signs and symptoms that indicate the need for referral to another health care professional5 (e.g., lethargy, weight loss, persistent fever). Even though physical therapists have a unique role in early intervention,33 there is an overlap of expertise among service providers. Therefore communication and coordination among the team are crucial. Providers are encouraged to openly discuss the overlap in their areas of expertise and respect the contributions of all service providers. Physical therapists may experience overlap in roles and responsibilities with occupational therapy colleagues in the areas of motor and adaptive development as well as assistive

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technology. It is also important for physical therapists to collaborate with early childhood education specialists who have broad knowledge of early development and expertise in cognitive and social development.39 Decisions on how each member of the team will contribute to the plan of care for a child and family are made based on who can best support the identified outcomes. It is particularly valuable to consider the role of the physical therapist from the consumer perspective. Thirty-six parents of children with disabilities participated in focus groups to explore their perceptions of competent physical, occupational, and speech therapists in early intervention.30,97 Parents discussed the skills and attributes of therapists that were important to them. The discussions were audiotaped, transcribed, and analyzed for themes. The nine themes that emerged are described in Box 30.4. The themes reflect interactions among administration issues, expectations for “best practice,” and the importance of the family– therapist relationship.

Elements of Early Intervention This section presents the major elements of intervention included in Part C of IDEA. The elements are team collaboration, evaluation and assessment, the IFSP, providing services in natural environments, and transition. These elements are consistent with the recommendations for children from birth to 5 years of age with or at risk of developmental delays or disabilities developed by the Division for Early Childhood (DEC) of the Council for Exceptional Children.40 It is through these elements of service provision that therapists implement family-centered care.

Team Collaboration Team collaboration is the process of forming partnerships among family members, service providers, supervisors, administrators, systems of care, and the community with the common goal of enhancing the child’s development and supporting the family.104 “It is the sum of these interrelated relationships that create a web of support for children, their families, and those who support them.”57 At the systems level, federal legislation mandates interagency coordination to provide families with efficient and effective

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mechanisms to access and utilize services from multiple agencies.107 The need for coordination of services among health care professionals, early intervention providers, and families has long been recognized.22 The American Academy of Pediatrics advocates for collaboration between children’s primary care and Part C early intervention services.2 Care coordination is based on the assumption that integrated and coordinated services will result in improved outcomes, reduced costs, and more positive service experiences for children and families.4 Part C of the IDEA delineates that service coordinators are responsible for the implementation of the IFSP, coordination with other agencies, and assisting families with access to services.107 Research supports the need for team collaboration and service coordination; interpersonal characteristics and organizational factors are interrelated and serve as either facilitators or barriers to team collaboration and service integration.21,28,67,73,103

B O X 3 0 . 4 Families’

Perspective of Desired

Competencies of Early Intervention Therapists Early intervention knowledge. Therapists have previously acquired or have access to general and disability-specific information relevant to family needs or requests related to their child. Team coordination. Therapists actively support the coordination and planning among team members, including the family. Family as part of therapy visits. Therapists are able to actively engage and include family members in therapy sessions. Information sharing between the therapist and the family. Therapists share and support the use of therapy techniques throughout child and family daily routines and activities. Commitment of the therapist. Therapists view their role as potentially impacting families and children, not simply as a job. Flexibility of scheduling. Therapists are willing to juggle their schedules in order to work with families and children. Respect for individual families. Therapists have respect for families in that they are sensitive to the family context and changes over time, use parent-friendly language, use active listening, and

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provide families with positive feedback. Appreciation for the child. Therapists demonstrate appreciation for the child by using a strength-based intervention approach and have the ability to be “in tune” with the child. Therapist as a person. Therapists possess a personality reflective of them as honest, patient, personable, creative, and humorous. Characteristics of team collaboration described by Briggs23 and supported by the recommendations for early intervention by the Division for Early Childhood,40 synthesis of literature on service integration,103 and qualitative research21 are summarized in Box 30.5. Team members demonstrate respect for each other by valuing cultural differences and acknowledging the expertise and competence each person brings to the team. Positive interpersonal relationships and clear behavioral expectations are important for effective collaboration. Opportunities for team members to share information and willingness to adapt to individual situations are viewed as important for collaboration. Communication is an essential skill for effective collaboration.111 Effective communication is the process of sharing knowledge and information among team members to facilitate coordination of services. Each member must be committed to keeping the team informed of important issues. Communication begins with listening, an essential process to understand and appreciate everyone’s perspective, foster relationships,81 and support parents’ engagement and self-efficacy. It is important for practitioners to “listen mindfully, sensitively and with intent—to be authentic and present in the moment with the client.”81 King and colleagues81 distinguished four types of listening skills: (1) receptive listening to attend to clients and be open to what they are saying, (2) exploratory listening to have a dialogue and facilitate deeper communication, (3) consensus-oriented listening to arrive at a shared understanding, and (4) action-oriented listening to establish decisions for a plan of care. To avoid miscommunication, it is helpful to restate what was heard to demonstrate understanding81 and to ask for clarification or an example when information is not clear. Prompt follow-through communicates investment in the team. At the same time, being patient reflects an understanding of

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the group process. When discussing issues, it is essential to provide suggestions and options, a solution-focused versus problemfocused approach. A sense of humor helps to bring humanism to day-to-day team struggles.

B O X 3 0 . 5 Characteristics

of Effective Teams

and Collaborative Relationships • In the developmental phase, team members take time to learn about each other. • Members demonstrate honesty, trust, responsiveness, and mutual respect for each other. • Membership is stable and all members demonstrate commitment and leadership. • All share a common philosophy and goal. • The group has a structure for interaction and organization. • Open communication, exchange of information, meaningful discussion, and negotiation are practiced. • Equal participation is encouraged, and partners contribute specific skills and strengths. • Plans, priorities, and decisions are made together. • Action plans with appropriate authority are used for implementing team recommendations. A family-centered organizational culture enables the development and implementation of organizational structures and processes that support team collaboration.21,67,73,103 The following strategies and practices are recommended to enhance collaboration2,4,21,28,67,73,103: • Communication, teamwork, and advocacy training for families and providers • Education on systems of care including the services and resources available • Referral forms that establish ongoing collaboration including sharing of medical and development records • Mechanisms and time for regular communication among team members including interagency systems • Comprehensive policies, funding, and resources for care

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coordination services • Documentation on the IFSP of all programs and services across the community and systems of care • Determination of the service coordinator based on an appropriate match to support family’s priorities and concerns • Development of collaboration goals and action plans • Maintenance of a list of services and resources for families • Service options shared with families • Flexibility in scheduling and staffing • Options for service format including co-visits by team members, group and individual therapy, and center-based programs At the system level, states lack policy and funding to support service coordination.4,67,103,127 In regard to collaboration between medical and early intervention providers, family members and practitioners noted limited communication, lack of trust and understanding, and challenges in resolving differences in practice philosophies.73 Families of young children with complex medical and developmental conditions expend considerable time and resources to coordinate care and meet their children’s health, education, and development needs.73 At the agency level, large caseloads, lack of consistency of staff, and problems with contracted employees have been cited as interfering with collaboration.103 Although struggles may exist for “turf,” power, or authority, more commonly problems appear to arise from a workplace structure that isolates service providers or one that does not have dedicated time or procedures in place for collaboration.71,73,103 Providing services in natural environments requires time for travel and reduces direct contact among team members. It is important for administrators to support procedures and mechanisms for communication such as team meetings at a community-based center, electronic sharing of information, and time in the workload for phone calls and consultation. Progressive leadership and administration at all levels are essential to discover solutions to barriers and to support practices that enable team collaboration.40,41,57,86 Leaders establish interagency partnerships to foster service coordination.40 Administrators need to set a tone that values and supports a deep level of teamwork, communication, and problem solving. Organizations need to secure

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funding to support the otherwise nonreimbursed time required for essential functions such as teamwork, planning, training, and supervision.57 Despite a federal mandate for service coordination in early intervention and advances in the medical home, “a collective paradigm shift at the provider, agency, interagency, government and societal levels is necessary to provide coordinated care to families.”82 Partnership among policy makers, administrators, practitioners, and families is critical to influence system reform (e.g., funding, policies, and interdisciplinary education). Therapists are encouraged to embrace the interpersonal facilitators of team collaboration, advocate for implementation of system strategies, and participate in the leadership process40,86 to enable coordinated care to become a reality.

B O X 3 0 . 6 Addressing

the Challenges in the

Primary Service Provider Approach: Advocating for Meaningful Decision Making The following is an example of how the team can advocate for individualized care when practicing the primary service provider approach. Megan is a physical therapist working for a county early intervention system that uses the primary service provider approach. She values the approach and has found it beneficial for many children and families. Currently she serves as the primary service provider for Declan, a two-year-old boy with cerebral palsy, Gross Motor Functional Classification System level IV, and is collaborating with the family on adapting a powered-mobility ride toy. Megan is feeling overwhelmed in being able to support the child’s communication and to prepare him for preschool. Her supervisor has approved a 1-hour consultation visit with the speech therapist but has indicated that only 1 hour is permitted for this 6-month period. During the visit, Megan, the family, and the speech therapist assess Declan’s current receptive and expressive communication function and discuss strategies for a communication system. Megan is appreciative of the co-visit but does not feel that she has the competency to set up the system

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and teach Declan and his family without additional support. Megan, the speech therapist, and the parents hold an additional online audio-conference at night, on the therapists’ personal time, to share and discuss options: • The speech therapist has documented the consultation visit, which includes a recommendation for additional services by the speech therapist. • Megan as the primary service provider will write a formal request for additional service visits by the speech therapist and a full team meeting. She notes that the full team meeting is needed to collaborate on this new strategy for communication as well as to receive further guidance from the early childhood education specialist and the occupational therapist regarding supporting the IFSP outcome related to preparation for preschool. • The family will investigate their medical insurance coverage for durable medical equipment and outpatient services. • The speech therapist will contact the regional children’s hospital to gather information on the augmentative communication clinic and outpatient services. • The team will discuss the possibility of switching the primary service provider to the speech therapist in 3 months at the next IFSP review meeting. This 3-month period will provide Megan the opportunity to make sure that Declan and the family are confident with using the powered mobility ride toy. Reflection on the primary service provider approach in action: Implementation of the primary service provider approach varies by state and may not encompass all of the teaming strategies explained by Rush and Shelden.116 For example, in this vignette Megan used her personal time to communicate and coordinate with the team and family. In some states this teaming time is reimbursed, as it is essential to the approach and to carry out the strategies outlined in the IFSP. Another example that varies by state is the option to switch the primary service provider depending on the needs of the child and family. Therapists who work in states using the primary service provider approach are encouraged to advocate for the time and resources needed to implement the approach effectively. The American Physical Therapy Association Section on Pediatrics created a Fact Sheet that addresses common questions on the

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primary service provider approach and can be accessed on the section’s website.128 Various approaches to team interaction exist in early intervention. In an interdisciplinary approach, team collaboration is necessary because multiple team members with various areas of expertise work together with the family to support one set of outcomes. However, a framework for team collaboration, specifically intensive team interactions, is an essential feature of the transdisciplinary approach to service delivery.84,125 The transdisciplinary approach involves one primary service provider who implements the IFSP with the family with consultation from other team members. An advantage of the transdisciplinary approach is that the family and child interact primarily with one service provider but do have access to other team members as needed. The transdisciplinary approach is dependent on sharing of roles and crossing of disciplinary boundaries. Great variability exists in how this approach is actually implemented, and therapists may need to advocate for appropriate supports. If services are implemented without opportunities for consultation and supervision and do not include the option for additional team members to provide direct service when needed, then a child may not be receiving the services and strategies necessary to support the IFSP. Box 30.6 presents a vignette that highlights how a team can address challenges when implementing a primary service provider approach. A specific approach to team interaction associated with the transdisciplinary care termed coaching has also been promoted in early intervention.63,115,116 This approach advocates for family involvement in the intervention process, respects the family’s strengths and expertise, and supports the family in expanding current abilities and learning new skills within their natural environments. Coaching is characterized as being “consistent with adult learning, capacity building, non-directive, goal-oriented, solution focused, performance based, reflective, collaborative, context driven, and as hands on as it needs to be.”116 Rush and Shelden116 synthesized the five critical processes: joint planning, observation, action, reflection, and feedback. After collaborative

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discussions and observations, the family and practitioner jointly select intervention strategies. The practitioner and family jointly interact with the child and practice the strategies together. Suggestions for asking families to practice strategies in ways that are family-centered and supportive are presented in Box 30.7. The family then implements the strategies throughout the child’s daily routines. The practitioner follows up with the family to reflect on the strategies and whether they are having the intended effect. Collaboratively the practitioner and family determine whether modifications or changes are needed and, if the goal has been achieved, how to progress to the next step. During this process the practitioner may provide modeling, demonstration, and direct teaching as well as guidance and feedback when the family is practicing and mastering the intervention strategies.63 This collaborative interactive process can be applied during all aspects of service delivery and can also be utilized during interactions with other team members.

B O X 3 0 . 7 Supporting

Families to Practice and

Use Intervention Strategies Therapists may find it helpful to share with families that trying a new intervention strategy was and at times still is not easy for them. Therapists can provide families with options on how they would best like to learn and practice the strategy: • Would you like to try this together? • What can I do to make it comfortable for you to try this strategy? • Would you like me to try the strategy and you can first watch and ask me questions? • Would you like to try the strategy and I can talk you through the steps? • Would having a video of doing the strategy be helpful? • Would you prefer to practice the strategy on your own this week? Once a family has tried a strategy it is important to ask for feedback to ensure family members are confident using the

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strategy: • What did you like best about trying the strategy? • Do you feel comfortable using the strategy? • Are there any parts of the strategy that are hard or difficult to do? • What would make the strategy easier? • Are there situations or circumstances when the strategy is easier or harder to use?

Evaluation and Assessment The IDEA addresses assessment of the child, family, and service needs. The IDEA specifies that assessment of the child is performed by qualified and trained personnel and includes review of the child’s relevant medical records, observation of the child, informed opinion, and determination of the child’s unique strengths and needs and functioning in five areas of development (physical, cognitive, communication, social or emotional, and adaptive). Comprehensive developmental tests and measures may be used for determining eligibility and documenting developmental progress; however, routines-based ecologic assessment of the child’s functioning is also indicated to identify outcomes and guide interventions in natural environments.8,10 The physical therapist synthesizes findings for motor development and adaptive function within the context of findings for all areas of development, social interactions, activities, and daily routines of the child and family. The assessment of the family includes a voluntary interview with the family to identify (1) their resources, priorities, and concerns and (2) the supports and services they need to strengthen their ability to meet their child’s developmental needs. Several key points on the evaluation and assessment process merit emphasis. Evaluation and assessment must be comprehensive and nondiscriminatory. A team approach supports a holistic view of the child. Information from multiple sources across various situations, including reports from families, is valued. Professional judgment of therapists and consensus decision making among parents and practitioners are important aspects of the evaluation and assessment process.9 The team uses findings from child and family assessments to determine the child’s initial and continued

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eligibility for early intervention. This determination cannot be made based on a single assessment procedure; however, medical records can be used to determine eligibility without additional assessment if they report information on the child’s level of functioning in the five developmental areas. If a child is eligible for early intervention, the team evaluates the assessment information to determine the child’s service needs. Evaluation and assessment are to be provided in an individualized, strengths-based, and collaborative manner.10,40 The purpose and process of the evaluation and assessment should be discussed in advance. Family input is requested in deciding who should attend, what activities and routines will be observed, where the evaluation or assessment should take place, and when the session will occur (date and time). Family members can take on many different roles during the evaluation and assessment. Some family members may elect to guide the process, interacting with their child in a variety of activities. Others may prefer to assist the therapist with activities. Another option for a family member is to be a narrator, reflecting on the child’s behaviors and providing commentary and elaboration to the other team members. Some families are comfortable with spontaneous exchange of ideas, and other families prefer to answer specific questions. At times, a family member may just want to observe and listen. Families can share photos, videos, and journals highlighting the child’s performance in their daily life. At the end of the evaluation and assessment, it is important to ask the family to share their perspective on the process and whether the child’s performance was representative of her or his current abilities. To maximize the value of evaluation and assessment, consideration should be given to the information needed to make decisions on outcomes, the intervention plan, and how progress will be monitored and documented.10 This process begins with the identification of child and family competencies that serve as a foundation for determining the child’s readiness for learning new skills. In addition, an understanding of the family’s culture and interests provides the framework for deciding on meaningful intervention strategies. This information is best gathered through the initial interview, ongoing conversation with the family, and

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systematic observation of the child and family during daily activities and routines.10,77,78 Family interview An initial step in the process of evaluation and assessment is a family interview. The initial interview begins the process of developing a trusting relationship and partnership with the family and child.15 The purpose of the interview is to learn from the family about the child’s health, development, and personality; the child and family’s daily routines and interests; the family’s priorities and concerns; what resources and strategies are available to enhance the child’s development; their perceptions about therapy; and their expectations of early intervention.15,96,133 For some families, the interview process may be a new experience; therefore therapists encourage, support, and respect the various levels of involvement and value the information that families provide.15 It is important for therapists to recognize and respect that families are being asked to share personal information. An effective interview requires sufficient time and is characterized by the ability to have a conversation with the family, listen, acknowledge the child and family’s strengths, expand the conversation with appropriate guiding questions, use friendly nonverbal communication, and demonstrate empathy.15,96 A personable approach facilitates a comfortable environment, welcoming the family to share their thoughts. Inviting parents to share their story and use of open-ended questions fosters an informal, flexible approach that is acceptable to families.15 This approach conveys to families that therapists are interested in learning and understanding the family’s culture. For some families who have difficulty expressing themselves, it is important for therapists to provide guidance while being careful not to misrepresent the family’s perspective. Active listening is another key to effective interviewing and to establishing partnerships with families and collaboration on the IFSP. Active listening and acknowledging the family’s concerns demonstrate respect and value for the family’s priorities and help the therapist develop a deeper appreciation for the family’s daily routines, opportunities for collaboration, how the family frames its

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resources, and the extent of the family’s support network. Another effective interview strategy is the use of silence. There are times when silence is more helpful than questioning. Silence, with some nonverbal gesture of acceptance, may enable a family time to reflect and consider their response. To support therapy in natural environments, a major component of the interview is gathering information on child and family daily routines in order to identify the context for intervention to promote children’s participation in family and community life. Through conversations and open-ended questions, such as “tell me about your child” and “describe for me a typical day in your family,” therapists gather information on family members’ roles, interests, strengths, interactions, and daily experiences. Rosenbaum has advocated for a strengths-based approach that begins with asking families to share what they enjoy and are proud of regarding their child.112 Therapists are encouraged to thoughtfully discuss with families their current routines related to play, self-care, and community outings. McWilliam and colleagues96 emphasized the importance of identifying the needs of all family members and considering what the family would like to be able to do. Woods and Lindeman144 discussed the importance of the interview being a reciprocal process where providers share information on the value of natural learning opportunities and families share information on daily activities and routines including child and family interests. The interview around daily routines is also an opportunity to begin collaborative problem solving with the family to discover the strategies and resources the family has to address challenges in caring for and promoting their child’s development.144 We believe the interview is a critical process, deserving of time and attention, in which the therapist and family are beginning a relationship, learning from each other, and setting the foundation for the family’s engagement in early intervention. Observation The second step entails observations of the child within his or her natural environment. Natural environment is a broad construct referring to the everyday experiences that are part of the child’s home and community settings. Observations in the natural

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environment may focus on family household routines, parent–child interaction, play, and other daily activities such as feeding, bathing, and dressing. Within the construct of the International Classification of Functioning, Disability and Health (ICF),146 ecologic assessment encompasses the relationships among participation, activity, body function and structures, and environmental and personal factors. The physical therapist’s unique role as part of the team is to focus on postural control and mobility during play, exploration of the physical environment, self-care, and interactions with objects and people.33 The family and therapist select the settings and activities that are most important for the therapist to observe. While observing, the therapist notes the following: • What the child enjoys doing • How the child interacts with others • Opportunities for safe movement and sensorimotor exploration • How often and under what circumstances the child moves • Toys and materials that are available • Areas of the home accessible to the child • How much adult assistance or guidance is provided • Abilities and resources the child needs to become more successful • Musculoskeletal, neuromuscular, cardiopulmonary, integumentary and personal characteristics of the child that may facilitate or be a barrier to the child’s participation During the observation, the physical therapist engages in a conversation with the family members to learn about their perspective of the child’s typical performance, abilities, strengths, and needs. Based on her or his observations, the therapist also shares information on the child’s and family’s strengths and may begin to discuss or try simple strategies to optimize the child’s abilities. Information about the child’s activity and participation in settings that are not observed can be gathered during the interview, or the therapist may elect to engage the child in an activity that is not the exact context of the daily routine. The most meaningful observation occurs when watching a child do something enjoyable with a familiar adult or child. Parent–child interactions are sensorimotor experiences. Motor control, sensory integration, and muscle performance are part of parent–child

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interactions. In addition to looking at the motor components of the interaction, consideration is also given to social patterns of interaction between the child and caregiver. Kelly and Barnard79 provided a comprehensive overview of assessment of parent–child interactions. Play is the primary occupational behavior of childhood and is a naturally occurring situation during which children learn and develop new skills. In reference to observing play activities, it is important to look at both independent play as well as play with caregivers, siblings, and peers. Therapists gather information on what toys and play activities the child engages in (sensory/exploratory play, manipulative play, imaginative/dramatic play, or motor/physical play) and the child’s likes and dislikes. Therapists consider the interplay between motor abilities and play skills. Is the child able to initiate play experiences? What positions can the child play in? Can the child freely move around to reach toys or play activities of interest? Further analysis considers if the child’s movements are goal directed, the variability of movement to meet environmental demands, and the child’s reaction to movement (i.e., level of enjoyment, safety, and body awareness). Lastly, a focus on the process of play provides valuable insights into the child’s playfulness. Playfulness is concerned with a child’s approach to an activity and includes observations related to the child’s enjoyment, engagement, responsiveness, motivation, and locus of control.101 In addition to the family interview and ecologic observations, therapists use various tests and measures to evaluate motor development, function, and body functions and structures. These assessment tools are described in Chapter 2 and elsewhere.90,123,137 An important consideration is that developmental measures normed on children without delay are valid for determining present level of development and eligibility but often are not valid for planning intervention and measuring change over time. Based on the top-down approach to service delivery,141 considerations of body functions and structures are conducted after the team has a clear understanding of the family and child’s goals and current abilities and relate to the team’s hypothesis for impairments that may be a cause of limitations in activities and restrictions in

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participation. During observation and completion of standardized measures, the therapist notes impairments that appear to limit a child’s activity and participation and, subsequently, screens for impairments in body functions and structures and determines when in-depth assessment is required. Therapists in early intervention may keep supplemental documentation of examination findings that are not included in the team report.6 Finally, therapists collaborate with the team to document the child’s functioning related to three outcome areas of the national accountability system for Part C of IDEA.69 These areas are “positive socio-emotional skills (including social relationships), acquisition and use of knowledge and skills (including early language/communication), and use of appropriate behaviors to meet their needs.” These outcomes represent an integration of abilities across developmental domains and reflect a value for children’s adaptive behavior, participation in meaningful activities, relationships with others, and self-determination. When children exit early intervention, data in aggregate form are collected to report the percentage of children who made improvements in these areas in relation to their same-age peers. This information is for progress monitoring of the early intervention system as a whole and is not meant to capture the individualized experience of a child.

Individualized Family Service Plan The culmination of the evaluation and assessment process is the development of the individualized family service plan (IFSP). The principle underlying an IFSP is that families have diverse priorities and concerns based on their individual values and life situations. For intervention to be meaningful for the child, the individuality of each family must be recognized. The team members involved in the development of the IFSP include parents, caregivers, other family members, the family advocate, the service coordinator, practitioners involved with the assessment and evaluation, and, as appropriate, practitioners who will be providing the service. The family should be provided with information that will enable them to make informed decisions and choices before the IFSP meeting in order to negotiate for the types of support they need and to ensure equal partnership and ownership in this process. This

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information may be shared face-to-face with the family during the information-gathering stages, in a meeting after the evaluation, or in writing in the form of an evaluation report. When feasible, questions the family may have pertaining to the evaluation results should also be addressed before the IFSP meeting so that questions related to the logistics of service provision can be fully discussed during the meeting. This will also help reduce the prolonged process that sometimes characterizes IFSP meetings. Another benefit to sharing the information before the IFSP meeting is that the family members can decide on whom they want to invite to the meeting, something that families consider to be a valuable form of support. An initial IFSP must be developed in a timely manner at a meeting time and place convenient for the family. Logistics often make it difficult to arrange the meetings at nights or weekends, thus it is important to recognize that not all key family members may be able to attend and participate. If a service provider cannot attend, a representative or written information can be sent. Scheduling challenges are an area of concern and can be a barrier to the collaborative process when not all team members are present. In some regions, administrative efforts to comply with policies on nonbiased evaluations and timely initiation of services have resulted in long meetings where the evaluation and the development of the IFSP occur during the same visit by an independent team who will not then provide the services in the IFSP.1 Although this practice meets legal requirements, it does not represent the spirit of the IFSP process. Parents often need to tend to their children during the meeting and have not had an opportunity to assimilate the evaluation findings. Another challenge is that when professionals are more occupied with completing paperwork for the IFSP, engagement and meaningful discussion with the family may be limited.1,144 Therapists working in states where evaluations are conducted by independent teams need to be sensitive to the issues that may arise. Therapists on the evaluation team recognize that although their relationship with the family is of short duration, it is still important to engage with the family in meaningful ways to support their active participation in the evaluation process. Therapists who are

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providers of service recognize that families now have to begin a relationship with another professional and that it may be challenging to have to tell their story again. Although the federal law specifies the content of the IFSP (Box 30.8), it does not specify the format of the document or the process for its development. Typically the service coordinator leads the discussion and records the information. Family members can elect, however, to take the role of team leader. During the meeting, the team discusses the evaluation and assessment findings, shares information on the philosophy of early intervention to ascertain if this matches the family’s expectations and priorities, and collaborates to develop the IFSP. The team promotes family participation, and decisions are made collaboratively. Applying federal law has been challenging, but reports indicate that families are participating in the development of the IFSP.1,70 Aaron and colleagues however, reported that family involvement regarding decisions on the types and amounts of services was limited.1 The findings from a study on quality indicators of IFSP documents were also mixed.76 A high rating was noted for a focus on child strengths, and 86% of the outcomes were related to family concerns and priorities. However, IFSP documents contained technical jargon, and the family often had a limited role in the IFSP process. Identification of IFSP outcomes that are family centered and participation based is essential for evidence-based early intervention supports and services. There are two types of outcomes: child focused and family focused. Child-focused outcomes are grounded in important routines or activities in the child’s life that are meaningful to the family. Family-focused outcomes are based on the family’s priorities and interests and support their access to community resources and supports.92,128 Family-focused outcomes also increase capacity of the family to care for and support the child’s development. Well-written IFSP outcome statements reflect real-life situations, cross developmental domains, are discipline- and jargon-free, emphasize the positive, and use active words.92,128 IFSP teams often do not identify familyfocused outcomes; however, there is some evidence that the routines-based interview (RBI) leads to more family-focused outcomes than traditional IFSP practices.96

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B O X 3 0 . 8 Content

of the Individualized

Family Service Plan • Statement of present levels of development based on objective criteria: cognitive, communication, physical (motor, vision, hearing, health), social or emotional, adaptive • Statement of the family’s resources, priorities, and concerns related to enhancing the development of the child • Statement of measurable outcomes expected with criteria, procedures, and timelines to determine progress • Specific early intervention services based on peer-reviewed research needed to meet the needs of the child and family, including frequency, intensity, and method of delivery • Statement of the natural environments in which services are to be provided (if services are not going to be provided in natural environments, a justification must be included) • Determination of other services to enhance the child’s development and a plan to secure such services through other public or private resources, such as medical resources • Projected dates for the initiation of services and duration of services • Identification of the service coordinator • Transition plan: steps to be taken to assure smooth transition to preschool services or other suitable services if appropriate (at age 3) The Early Childhood Outcomes Center, funded in 2003 by the US Department of Education, Office of Special Education Programs, has developed a family outcome measure for early intervention.53 The global outcomes on this measure may assist providers in discussions with families to identify specific individualized familyfocused outcomes to guide appropriate decisions about the supports and services they want or need. The global family outcomes12 state that the family does the following: • Understands their child’s strengths, ability, and special needs • Knows their rights and advocates effectively for their child • Helps their child develop and learn • Has support systems

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• Can access desired services and activities in their community Recognizing the importance of providing services that build family capacity136 and self-determination, we encourage physical therapists to expand their knowledge to engage families in conversation of outcomes that are meaningful to them and support their autonomy (control and choice), relatedness (connected and supported), and competence (capable and confident).105 However, identifying family-centered, participation-based outcomes can be challenging. Several issues often arise during this process. Table 30.1 outlines several situations that may be challenging and presents considerations and recommendations for the team. We recommend the collaborative process described by Baldwin and colleagues14 where the team honors the family’s hopes for their child’s future and engages them in a thoughtful conversation to develop outcomes and strategies together. TABLE 30.1 Considerations to Foster Development of Family-Centered Individualized Family Service Plan Outcomes Situation Families look to the professionals for guidance in identifying outcomes

Families prioritize skillbased outcomes that the child may not have the readiness or potential to achieve

Considerations Avoid writing outcome statements that are based on therapist’s priorities or are discipline specific Individualized family service plans that reflect what the practitioners determine to be the needs instead of what the family believes its needs are often do not include important family-focused outcomes, especially for families from diverse cultural backgrounds.147 Review and discuss information gathered during the family interview to inform the identification of outcomes.128 Knowledge of family beliefs, customs, and rituals not only helps teams to identify meaningful family-focused outcomes but also builds trust and communication. Acknowledge family priorities. Explore why the outcome is important to the family. Discuss family insights about what their child may be ready to learn related to the outcome area they have identified. Share information about the child’s condition to enable informed decision making. Ask family members to describe what the child will be doing in 6 months if everything goes well.7

Families express outcomes in ways that are not measurable Families focus on a child Probe for more information to determine routines and activities the behavior they want to child’s behavior interferes with, and collaborate to create a positive stop and state an outcome statement. outcome in negative terms

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Teams might feel overwhelmed when numerous child and family needs are identified and then struggle to address all of the priorities in the IFSP outcome statements. Prioritizing a routine or activity that is important to the family might help the team create more cohesive and meaningful outcomes statements for the IFSP. For example, if the family identifies a current activity that is challenging and a high priority (e.g., visiting grandparents), the team might explore the reasons why the activity is challenging to address in one or more outcome statements. In this case, it might be reasonable to address challenges in communication, mobility, and self-help in an outcome statement about visiting grandparents. A case scenario highlighting the development and prioritization of IFSP outcomes is available on Expert Consult. Identification of the types and amounts of services (frequency and length of early intervention sessions) to support the child’s and family’s outcomes requires an open discussion, team collaboration, an understanding of the expertise of various service providers, an appreciation of family preferences, and circumstances. This discussion also includes options for methods of service delivery, interagency collaboration, financial responsibilities, and transition planning for when the child turns 3 years old. Little is known about the types of supports and services that may be appropriate to address family-focused IFSP outcomes.139 Family-directed service involves providing families with a range of supports including information, access to resources, care coordination, counseling, social work services, and respite care. Although the early intervention team is not expected to be able to provide all of the supports that a family may need, plans are made to assist families in accessing and coordinating appropriate community social services. The discussion of supports and intervention strategies is essential to promote coordinated and complementary care. Mutually identified recommendations for strategies to address the child’s and family’s outcomes and to facilitate mobility, communication, adaptive behavior, self-care, and play enable all team members to contribute their knowledge and provide supports in a comprehensive manner. When selecting strategies, the team considers evidence-based practice and the provision of services in

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natural environments. For example, before suggesting a strategy of daily sessions of supported walking on a treadmill for an infant with Down syndrome,140 we recommend that the team must consider the family’s priorities, preferences, routines, and resources; the health of the infant; and other developmental needs. The IFSP is not just a legal document; it is a process of collaboration between the family and practitioners to design a service plan that is acceptable to the family and addresses the child’s needs. The IFSP serves as a means for coordinating services, a guide for intervention, and a standard for evaluating outcomes. The IFSP is reviewed every 6 months or more often at the request of a team member, and a formal meeting is held annually. Periodic IFSP reviews allow for renegotiations or revisions of the service plan, as well as monitoring of goal attainment. During an IFSP review, family satisfaction, effectiveness of the IFSP process, and status of the outcomes are discussed. If outcomes were not achieved, reflection of the appropriateness of the outcomes, service, and strategies is needed to effectively revise the IFSP. Therapists practicing in early intervention require effective interpersonal and communication skills to be able to invite and support the family to contribute their insights, recommendations, and priorities. Anecdotal stories indicate that the IFSP process can be overwhelming and intimidating for families, especially when families do not believe that their opinions are valued. To make sure family’s priorities and concerns are valued, any recommendation made by a therapist should align with information gathered during the family interview. Framing recommendations as questions allows the family the opportunity to agree or disagree. Additional strategies to make these experiences more positive include a focus on child and family strengths, use of lay language, and flexibility to allow informal conversation and sharing of ideas instead of rigidly following a predetermined format. Lastly, it is important to acknowledge that variability exists in how states have implemented the IFSP process. Therapists are encouraged to serve as an advocate to ensure that the spirit of family-centered care and individualization are honored.

Providing Services in Natural Environments

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IDEA defines natural environments as “settings that are natural or normal for the child’s age peers who have no disabilities.” More meaningful is that natural environments are “a variety of settings where children live, learn, and play.”121 The Mission and Key Principles for Providing Services in Natural Environments of the National Early Childhood Technical Assistance Center (NECTAC) states that “early intervention builds upon and provides supports and resources to assist family members and caregivers to enhance children’s learning and development through everyday learning opportunities.”145 The natural environment is not limited to the home but rather is defined as any place where children participate in activities and routines that provide learning opportunities that promote a child’s behavior, function, and development. This includes child care settings, parks, grocery stores, YMCAs, and libraries. Although natural environment implies a physical location, such as a playground, it goes beyond the physical place. It includes the people and relationships, the activities and routines the child and family typically engage in at that location, and the learning opportunities afforded by those activities. Dunst and colleagues45 have identified common routines in a variety of family and community settings and present an approach for discussing with families activities and learning opportunities. These activities and learning opportunities include family routines (household chores and errands), caregiving routines (bathing, dressing, eating, grooming, bedtime), family rituals and celebrations (holidays, birthdays, religious events), outdoor activities (gardening, visits to the park/zoo), social activities (visiting friends, play groups), play activities (physical play and play with toys), and learning activities (listening to stories, looking at books/pictures). Physical therapists are encouraged to become familiar with the communities they serve including formal and informal leisure and recreational opportunities for families and young children. Developmental frameworks and theories, such as the developmental systems theory,64 the ecologic theory of human development,24 and the transactional theory,117 along with the ICF146 are based on the assumption that the physical, social, and attitudinal environment is a mediator of child health, development,

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and participation. Evidence suggests that the environment, especially related to socioeconomic status, is a determinant of early childhood development and therefore significantly related to health and well-being across the life span.132 Shelter and food insecurity, lack of transportation, and community violence are factors that increase family stress and the ability to provide developmentally supportive caregiving. For example, a family’s ability to establish consistent routines around eating, sleeping, and fitness is affected by the social and physical factors of their home and community environments. Families may struggle to engage in positive parent– child interactions when experiencing stress, therefore affecting infant mental health.148 Understanding that the natural environment might not be optimal (home or community) for all children is essential when considering the factors that influence their development as well as the choices families make regarding their concerns and priorities. With this in mind, we recommend sensitivity to the family’s personal situation when discussing, prioritizing, and implementing strategies—especially when optimizing outcomes for children requires optimizing their environment. Natural environments match the purpose of early intervention: “support families in promoting their children’s development, learning, and participation in family and community life.”121 This approach embraces family-centered care by recognizing that the family has a primary role in nurturing the child and fostering growth, development, and learning. Campbell and Sawyer found that when service is focused on natural learning environments, caregivers are actively participating in the session and interactions revolve around the caregiver–child dyad.29 When providing interventions in natural environments, therapists can easily focus on the children’s function, promote socialization with their family and friends, and “strengthen and develop lifelong natural supports for children and families”121 (Fig. 30.2). For infants and young children, self-determined behavior, the parent–child relationship,80 and play form the foundation to support the child’s role in the family and to prepare the child for interactions with peers and school (Fig. 30.3). Brotherson and colleagues26 observed the families and home environments of 30

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young children with disabilities and found that families provide a variety of opportunities in the home to promote the development of their children’s self-determination. The themes to describe these strategies included choice and decision making, support of self-esteem, engagement with home environment and others, and control and regulation of the home environment. Therapists can build on these strategies and reflect with parents on ways to support what the child does, what the family does, and what the environment affords to foster development of self-determination.59 Chai and colleagues34 identified socially and culturally based interactions as the common theme across various conceptual frameworks on natural environments. Therapists build a relationship with the family and provide support, feedback, and guidance to promote parent–child interactions that foster trust and competence.80 Supporting play captures the essence of children in their daily lives. Therapists are encouraged to not simply address the physical components of play but rather to collaborate with the team to identify enjoyable play activities that incorporate all areas of development and involve parents, siblings, and friends to promote socialization.

FIG. 30.2 When providing therapy in the home, the

family and therapist may consider inviting the grandmother to participate in the visit to support her

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role as a resource for the family in nurturing her grandchild. (Copyright iStock.com.)

FIG. 30.3 Involvement of siblings in caregiving

activities during therapy visits promotes family bonds and supports family routines. (From Hockenberry M, Wilson D: Wong’s nursing care of infants and children, ed 10, St. Louis, MO, 2015, Mosby.)

Interventions for caregiving and self-care activities such as sleeping, feeding, bathing, dressing, and moving throughout the environment are essential (Fig. 30.4). Families of young children with cerebral palsy have identified self-care as their highest priority.36 However, even in the natural environment, practitioners are more likely to employ teaching strategies in the context of toy play rather than naturally occurring routines and activities.27 It is important for physical therapists to support feeding and nutrition needs, as this is a primary concern of families and critical for children’s energy to move and grow.143 As health care professionals,

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physical therapists have knowledge and skills in differential diagnosis, feeding disorders, pharmacology, oral-motor functioning, assistive technology, and community resources. Physical therapists also promote fitness, wellness, and injury/disease prevention of young children and families through parent education about daily age-appropriate physical activity and safety measures such as use of car seats, baby-proofing the home, and healthy lifting for caregivers.

FIG. 30.4 It is important for therapists to partner with

fathers and support their role in caregiving activities. (Copyright iStock.com.)

Providing services in natural environments is supported by principles of motor learning141 and grounded cognition through perceptual-motor experiences.89 Practice and repetition of activities in natural contexts and settings are more effective for learning and generalization. These places and activities are interesting and engaging and thus naturally motivating to children. This includes opportunities to learn by interacting with the people and objects in their environment89 and through imitating peers and family members. Based on the family’s daily life, therapists guide families on how to structure practice to promote learning of contextualized

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motor skills. Therapists help families to provide prompts and cues and, when necessary, physical assistance to enable the child to learn skills in self-care and mobility. Scales, McEwen, and Murray118 found that although parents perceived benefits of instruction from providers, they noted that for some families, instruction may be a source of stress. Therapists are encouraged to collaborate with families to prioritize the activities and strategies and to support families in this process. Therapists also collaborate with the family to adapt the physical environment, activities, and materials to enhance the child’s participation in and access to learning opportunities. Examples include minor changes to the layout of a room or use of adapted toys or positioning and mobility devices. Assistive technology is an important component of intervention for children with severe physical disabilities.135 Assistive technology, such as switches to activate toys, is underutilized for children under age 3.42,91 Young children with physical disabilities can successfully learn to operate switches to produce meaningful outcomes.32 Similarly, power wheelchair mobility or power adapted ride-on toys may afford infants and toddlers with limitations in mobility the opportunity for independence.72,75,109 Planning forms and charts are available to guide the team in the decision-making process for designing and implementing adaptations.31 On one hand, consumers and professionals value services in natural environments. Research suggests that family routines provide the mechanism through which parents influence child outcomes.133 Bernheimer and Weisner19 gathered information on the daily lives of 102 families of children with disabilities and concluded, “If there is one message for practitioners from our parents and from our longitudinal studies, it is that no intervention, no matter how well designed or implemented, will have an impact if it cannot find a slot in the daily routines of an organization, family, or individual.” In a national survey, families and providers identified critical outcomes of services in natural environments: child mastery, parent–child interactions, inclusion, and child learning opportunities.43 Furthermore, learning opportunities characterized as being interesting, engaging, competenceproducing, and mastery-oriented predicted positive child

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outcomes.44 On the other hand, challenges exist in providing services in natural environments, and therapists are encouraged to seek creative solutions.66 Challenges include logistic concerns, such as the costs, safety, and time to travel to the child’s natural environments as well as philosophic concerns that by mandating a particular approach to service delivery, the system may not be providing options to meet families’ individualized needs and circumstances. It is important for agencies to develop and implement policies to ensure staff safety such as the use of cell phones, co-visits, and soliciting advocacy efforts from neighborhood child watch organizations. Visits can occur in a variety of community locations such as the library, town centers, and recreational facilities. When service is provided in a community child care setting, it is important to schedule periodic visits with the family as well as to collaborate with the child care providers. Information on child care regulations, philosophy, and early childhood curriculum will assist the therapist in partnering with child care providers (Fig. 30.5). Implementation of intervention in natural environments requires insights and planning. The first step is to consider the familyidentified priorities and IFSP outcomes. It is essential for there to be a match between the information from families regarding their concerns, priorities, and resources and the services provided. The next step is to discuss with the family the activities, routines, and people that are part of their daily life. Box 30.9 provides questions to consider when collaborating with families to identify activities. Therapists are encouraged to identify the functional learning opportunities that occur during each activity. If a child-focused IFSP outcome is for the child to be able to play at the park, riding a swing may be an activity to consider. The therapist may identify a variety of learning opportunities for the child, such as grasping with two hands, pumping with his or her legs, holding the head and trunk up, understanding high and low, and making sounds. Therapists integrate intervention strategies within the context of family activities and learning opportunities. Therapists are encouraged to balance adult-directed learning opportunities with child-directed activities to promote self-determination.52

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Therapeutic techniques are used to improve the body functions and structures necessary to achieve a functional ability and to prevent secondary complications related to the cardiopulmonary, musculoskeletal, and neuromuscular systems. When possible, therapists are encouraged to integrate impairment-focused interventions into practice of activities.141 Therapists use their expertise to guide families and teach children through meaningful natural learning opportunities; however, they may struggle with providing interventions in natural environments. It is important for therapists to advocate for the support and training they need to be able to provide services in natural environments. A work group through the Office of Special Education Programs provides concrete guidelines on intervention practices that support natural environments.145 Box 30.10 summarizes intervention strategies for physical therapists in early intervention.

FIG. 30.5 Therapy at a child care setting can focus on

promoting social interactions with peers and functional mobility to participate in activities on the playground. (From Hockenberry M, Wilson D: Wong’s nursing care of infants and children, ed 10, St. Louis, MO, 2015, Mosby.)

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B O X 3 0 . 9 Questions

to Discuss With Families

When Establishing Activities for Services in Natural Environments • What activities make up your weekdays and weekends? • What activities are going well, and which are not going well? • What activities would you like support for? • What activities does the child prefer to participate in? • What activities provide natural learning opportunities? • What activities provide opportunities for child initiation? • What activities provide opportunities for peer interaction? • Are there new activities that you would like to try?

The Transition Plan The transition plan is part of the IFSP process that deserves special attention because of its essential role in assuring the child’s progression in the educational system and participation in the community. The transition process is complex and can be a challenging experience for families. Child, family, program, and community characteristics influence the transition process,113 and effective practices are comprehensive in order to address all dimensions.114 Therapists, as early intervention team members, can take an active role in the transition process. The first step is to become knowledgeable about how Part B Preschool Services (IDEA, 2004)107 are implemented and about resources and service options in the community. IDEA provides for increased coordination between Part C and Part B programs. Parents may invite or permit one or more representatives from the Part C program to attend the initial Individualized Education Program (IEP) meeting when the child is transitioning to preschool services. In addition, IDEA provides states the flexibility to make Part C services available to children until they enter kindergarten or elementary school.

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B O X 3 0 . 1 0 Intervention

Strategies for Physical

Therapists in Early Intervention Team Collaboration • Schedule periodic early intervention team meetings as needed. • Conduct co-visits of early intervention team providers. • Identify and access of community resources through community mapping. • Establish interagency coordination plans as part of the IFSP. • Visit or phone-conference with other health care professionals. • Share documentation among early intervention team members and other agencies/practitioners serving the family.

Natural Environments • Provide information and resources on family-identified concerns. • Embed intervention strategies into the child’s and family’s daily life. • Conduct visits when family members who are important in the child’s life can participate. • Conduct visits at community locations identified by the family. • Provide intervention in different rooms in the home and outside to support a variety of daily activities and routines. • Use the coaching process to engage families and children in the intervention process to foster self-determination and selfefficacy. • Use family materials and toys, create simple objects with the family, and assist the family in accessing other toys and equipment to support IFSP outcomes. • Implement adaptations, functional training, and restorative/preventive techniques to support self-regulation, adaptive behavior, parent-child interactions, self-care, mobility, play, and sibling/peer interactions. Second, it is important to make the commitment to collaborate with the early intervention and preschool teams. Focus groups have identified interagency relationships and communication as essential factors in the transition process.114 This step includes an open

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discussion regarding the environmental characteristics that will support the child’s learning and development including attention to the safety of the child in the new environment and during transportation. Therapists can offer, with the family’s permission, to share information that will help the staff of the preschool program to meet the child’s needs. The American Physical Therapy Association (APTA) Section on Pediatrics developed a transition worksheet to help share information between early intervention and school-based physical therapists.126 Third, therapists collaborate with families and provide them with resources, information, and support as they prepare for their child’s transition. This support enables families to take an active role in the transition process. Most important, therapists serve as advocates, keeping in mind the family’s dreams and vision for the child. Box 30.11 outlines strategies for collaborating with families. Finally, therapists can focus on preparing children for the preschool environment and promote the development of school readiness skills. Awareness of early learning guidelines (ELGs)119 and strategies to foster self-determination of young children59,129 helps therapists collaborate with families to prepare young children for the preschool environment. Early learning guidelines are documents published by each state describing what children should know and be able to do before they start kindergarten. The five most common domains used in ELGs are health and physical development, social and emotional development, approaches to learning, language and communication development, and cognitive development.120 Dimensions of self-determination such as selfawareness, self-regulation, engagement, self-initiation, making choices, problem solving, persistence, and self-efficacy can be nurtured in early childhood. Early intervention provides an opportunity to begin at a young age to influence children’s selfesteem, ability to express themselves, make choices, and the belief that their actions have an impact on their world—competencies that are important for well-being and quality of life. Box 30.12 presents examples of strategies that physical therapists can incorporate during early intervention.

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B O X 3 0 . 11 Strategies

for Collaborating With

Families to Support Transition From Early Intervention • Listen to the family. • Provide positive, but realistic, support for the preschool program: • Guide the family in gathering information without introducing your bias. • Provide the family with survey and interview guidelines for preschool programs. • Visit a program with the family and help orient the family and child to the new agency. • Discuss separation from the child as a natural process. • Celebrate graduation from early intervention with the family and child. • Consider a follow-up communication with the family after transition.

B O X 3 0 . 1 2 Strategies

to Prepare a Child for

Preschool • Provide the child with opportunities to play with other children (i.e., siblings, neighbors, play groups). • Promote independent playtime. • Encourage the child to participate in a variety of play experiences. • Encourage self-care skills. • Give the child an opportunity to practice following simple directions. • Make the child responsible for small tasks, like putting away toys. • Have the child make choices, and encourage the child to express wants and needs. • Read stories about school.

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Program Evaluation Program evaluation in early intervention determines the extent to which services are provided in an efficient and effective manner, including stakeholders’ level of satisfaction and the degree to which child and family outcomes are achieved. Information from a program evaluation helps early intervention personnel at all levels (e.g., state and county lead agency administrators and practitioners) and families understand areas of strengths and, importantly, areas that need improvement. A four-tiered approach to program evaluation has been described.74,142 Through the first tier, a needs assessment, the needs of the population being served are determined, policy or programs to meet the needs are proposed, and a monitoring system is developed to document progress. Through the second tier, monitoring and accountability, services are systematically documented to assist in program planning and decision making. Through the third tier, quality process, the quality of the services is judged to provide information for program improvement. Through the fourth tier, achieving outcomes, the extent to which IFSP outcomes are met and attributed to early intervention services is determined to provide information for program improvement and contribute to the knowledge base. Program evaluation is recommended to determine how early intervention is actually implemented and to assess the outcomes for families and children. As previously discussed, a national accountability system is now in place to monitor the impact of early intervention on global child and family outcomes. However, individual programs are encouraged to engage in the program evaluation process to guide decisions on service delivery. Stuberg and DeJong134 provided a useful example of how to implement a program evaluation for physical therapy service within early intervention and school settings. They reported that 91% of the children’s individualized objectives were either achieved or progress was made. Children in early intervention and preschool had higher achievements than older children, and children with more severe disability had fewer achievements than children with less severe disability. These findings may guide program developers in how best to establish appropriate and meaningful

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individualized outcomes. Bailey11 proposed a framework for program evaluation in early intervention to assess family involvement and support. He discussed three levels of accountability: (1) providing what the legislation requires, (2) providing services that reflect current best practices, and (3) achieving family outcomes. Program evaluation is challenging secondary to the multiple dimensions of early intervention, the variability in the characteristics of children and families served, and the individualized needs of families and children. However, through program evaluation, facilitators, barriers to quality and effective services are identified and recommendations are provided for program improvements.

Professional Development Personnel preparation in early intervention (entry level and practice level) is an area of concern across disciplines and national efforts are under way to create integrated and comprehensive professional development models for practitioners who serve young children with disabilities and their families.54 Physical therapists in early intervention are challenged to participate in ongoing professional development not only for licensure but to build their capacity to provide evidence-informed and family-centered services in natural environments.33 Therapists are encouraged to participate in continuing education and implement new knowledge and skills during their interactions with children, families, and other practitioners. Reflecting on practice, creating a professional development plan, and seeking a mentor to discuss opportunities for professional growth are also recommended. Experienced and novice therapists, especially those new to early intervention, should strive to achieve the competencies for physical therapy early intervention practice.35 The competencies are a valuable tool both to measure personal professional development and to identify the common and unique roles of the physical therapist on the early intervention team. Therapists are encouraged to use resources from the Early Childhood Personnel Center,54 the Division for Early Childhood,40,41 and the APTA Section on Pediatrics website (www.pediatricapta.org) and to advocate for state- and agency-

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sponsored interdisciplinary professional development activities.

Summary Physical therapists in early intervention support the implementation of IDEA by establishing collaborative partnerships with children, families, and practitioners from multiple disciplines to provide individualized, coordinated, and comprehensive care in natural environments. Physical therapists integrate their expertise of the movement system with knowledge of early childhood development, family ecology, and the environment to promote the child’s development and participation in family and community life, as well as to support the family. This unique practice setting enables therapists to embrace the art of caring, prepare children for their roles in school, and foster health and well-being.

Case Scenarios on Expert Consult Two case scenarios illustrate how the physical therapist, as a member of the early intervention team, provides family-centered services under the IDEA. The first case highlights Mateo, a 22month-old with global developmental delay and failure to thrive, and his mother, Jenni. The process of discussing, writing, and prioritizing IFSP outcomes and strategies when multiple needs are identified is described. The second, a video-based case scenario, illustrates how intervention strategies for Andrew and his family are implemented through a collaborative, familycentered team approach in natural environments. The case scenario also includes a sample activity matrix to illustrate how intervention strategies can be integrated into family daily routines to support desired outcomes for the child.

References 1. Aaron C, et al. Relationships among parent participation, team support and intensity of services at the initial individualized family service planning meeting. Phys Occup

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Ther Pediatr. 2014;34:343–355. 2. Adams R.C, Tapia C, the Council on Children with Disability, . American Academy of Pediatrics: Early intervention, IDEA part C services, and the medical home: collaboration for best practice and best outcomes. Pediatrics. 2013;132:e1073–e1087. 3. American Academy of pediatrics. Committee on Hospital Care and Institute for Patient- and Family-Centered Care: patient- and family-centered care and the pediatrician’s role. Pediatrics. 2012;129:394–404. 4. American Academy of Pediatrics. Council on Children with Disabilities and Medical Home Implementation Project Advisory Committee: Patient- and family-centered care coordination: a framework for integrating care for children and youth across multiple systems. Pediatrics. 2014;133:e1451–e1460. 5. American Physical Therapy Association. Guide to physical therapist practice 3.0. Alexandria, VA: Author; 2014 Retrieved from:. http://guidetoptpractice.apta.org/. 6. American Physical Therapy Association. Defensible documentation: setting specific considerations: early intervention Retrieved from:. http://www.apta.org/Documentation/DefensibleDocumentation/ 7. An M, Palisano R.J. Family-professional collaboration in pediatric rehabilitation: a practice model. Disabil Rehabil. 2013:1–7. 8. Bagnato S.J. The authentic alternative for assessment in early intervention: an emerging evidence-based practice. J Early Interv. 2005;28:17–22. 9. Bagnato S.J, et al. Valid use of clinical judgment (informed opinion) for early intervention eligibility: evidence base and practice characteristics. Infants Young Child. 2008;21:334– 339. . 10. Bagnato S.J, et al. Identifying instructional targets for early childhood via authentic assessment: alignment of professional standards and practice-based evidence. J Early Interv. 2011;33:243–253.

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11. Bailey D.B. Evaluating parent involvement and family support in early intervention and preschool programs. J Early Interv. 2001;24:1–14. 12. Bailey D.B, et al. Recommended outcomes for families of young children with disabilities. J Early Interv. 2006;28:227– 251. 13. Bailey D.B, et al. Thirty-six-month outcomes for families of children who have disabilities and participated in early intervention. Pediatrics. 2005;116:1346–1352. 14. Baldwin P, et al. Solution-focused coaching in pediatric rehabilitation: an integrated model for practice. Phys Occup Ther Pediatr. 2013;33:467–483. 15. Banks R.A, et al. Discovering family concerns, priorities, and resources: sensitive family information gathering. Young Exceptional Child. 2003;6:11–19. 16. Barnett D, et al. Building new dreams: supporting parents’ adaptation to their child with special needs. Infants Young Child. 2003;16:184–200. 17. Bartlett D.J, Lucy S.D. A comprehensive approach to outcomes research in rehabilitation. Physiother Can. 2004;56:237–247. 18. Beckman K, et al. Summary of the infant health and development program. National Center for Children and Families Teacher College Columbia University. Retrieved from:. http://policyforchildren.org/wpcontent/uploads/2013/08/IHDP-Final-5.11.10.pdf Accessed May 11, 2010. 19. Bernheimer L.P, Weisner T.S. “Let me just tell you what I do all day …” The family story at the center of intervention research and practice. Infants Young Child. 2007;20:192–201. 20. Blauw-Hospers C.H, Hadders-Algra M. A systematic review of the effects of early intervention on motor development. Dev Med Child Neurol. 2005;47:421–432. 21. Blue-Banning M, et al. Dimensions of family and professional partnerships: constructive guidelines for collaboration. Exceptional Child. 2004;70:167–184. 22. Brewer E.J, et al. Family-centered, community-based, coordinated care for children with special health care

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needs. Pediatrics. 1989;83:1055–1060. 23. Briggs M.H. Building early intervention teams: working together for children and families. Austin, TX: Pro Ed; 2005. 24. Bronfenbrenner U. Ecology of the family as a context for human development research perspectives. Devel Psychol. 1986;22:723–742. 25. Brooks-Gunn J, et al. Early childhood intervention programs: what about the family? In: Shonkoff J.P, Meisels S.J, eds. Handbook of early childhood intervention. New York: Cambridge University Press; 2000:549–577. 26. Brotherson M.J, et al. Understanding self-determination and families of young children with disabilities in home environments. J Early Intervention. 2008;31:22–43. 27. Campbell P.H, Coletti C.E. Early intervention provider use of child caregiver-teaching strategies. Infants Young Child. 2013;26:235–248. 28. Campbell P, Halbert J. Between research and practice: provider perspectives in early intervention. Topics Early Child Spec Educ. 2002;25:25–33. 29. Campbell P, Sawyer L.B. Supporting learning opportunities in natural settings through participation-based services. J Early Intervention. 2007;29:287–305. 30. Campbell P, et al. Preparing therapists as effective practitioners in early intervention. Infants Young Child. 2009;22:21–31. 31. Campbell P, et al. Adaptation interventions to promote participation in natural settings. Infants Young Child. 2008;21:94–106. 32. Campbell P, et al. A review of evidence on practices for teaching young children to use assistive technology devices. Topics Early Child Spec Edu. 2006;26:3–13. 33. Catalino T, et al. Promoting professional development for physical therapists in early intervention. Infants Young Child. 2015;28:133–149. 34. Chai A.Y, et al. Rethinking natural environment practice: implications from examining various interpretations and approaches. Early Child Edu J. 2006;34:203–208.

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35. Chiarello L, Effgen S. Update of competencies for physical therapists working in early intervention. Pediatr Phys Ther. 2006;18:148–158. 36. Chiarello L, et al. Family priorities for activity and participation of children and youth with cerebral palsy. Phys Ther. 2010;90:1254–1264. 37. Dempsey I, Keen D. A review of processes and outcomes in family-centered services for children with a disability. Topics Early Child Spec Educ. 2008;28:42–52. 38. Dirks T, Hadders-Algra M. The role of the family in intervention of infants at high risk of cerebral palsy: a systematic analysis. Dev Med Child Neurol. 2011;53(Suppl 4):62–67. 39. Division for Early Childhood. DEC position statement: the role of special instruction in early intervention Retrieved from:. http://dec.membershipsoftware.org/files/Position%20Statement% 40. Division for Early Childhood. DEC recommended practices in early intervention/early childhood special education 2014 Retrieved from:. http://www.decsped.org/recommendedpractices, 2014. 41. Division for Early Childhood. DEC position statement: leadership in early intervention and early childhood special education Retrieved from:. http://dec.membershipsoftware.org/files/Position%20Statement% (1).pdf, 2015. 42. Dugan L.M, et al. Making decisions about assistive technology with infants and toddlers. Topics Early Child Spec Edu. 2006;26:25–32. 43. Dunst C.J, Bruder M.B. Valued outcomes of service coordination, early intervention, and natural environments. Exceptional Child. 2002;68:361–375. 44. Dunst C.J, et al. Characteristics and consequences of everyday natural learning opportunities. Topics Early Child Spec Educ. 2001;21:68–92. 45. Dunst C.J, et al. Natural learning opportunities for infants, toddlers, and preschoolers. Young Exceptional Child. 2001;4:18–25. 46. Dunst C.J, Dempsey I. Family-professional partnerships and

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parenting competence, confidence, and enjoyment. Int J Disabil Dev Edu. 2007;54:305–318. 47. Dunst C.J, et al. Modeling the effects of early childhood intervention variables on parent and family well-being. J Appl Quantitative Methods. 2007;2:268–288. 48. Dunst C.J, Trivette C.M. Capacity-building family-systems intervention practices. J Fam Soc Work. 2009;12:119–143. 49. Dunst C.J, Trivette C.M. Meta-analytic structural equation modeling of the influences of family-centered care on parent and child psychological health. Int J Pediatr. 2009;2009:1–9. 50. Dunst C.J, et al. Research synthesis and meta-analysis of studies of family-centered practices. Ashville, NC: Winterberry Press; 2008. 51. Dunst C.J, et al. Family-professional partnerships: a behavioral science perspective. In: Fine M.J, Simpson R.L, eds. Collaboration with parents and families of children and youth with exceptionalities. ed 2. Austin, TX: Pro Ed; 2008:27–48. 52. Dunst C.J, et al. Contrasting approaches to natural learning environment interventions. Infants Young Child. 2001;14:48– 63. 53. Early Childhood Outcomes Center. Considerations related to developing a system for measuring outcomes for young children with disabilities and their families. Washington, DC: Department of Education: U.S. Office of Special Education Programs; 2004. 54. Early Childhood Personnel Center. Mission Retrieved from:. http://ecpcta.org, 2015. 55. ECTA Center. Family data: indicator C4 results and state approaches, FFY 2012 Retrieved from:. http://ectacenter.org/eco/assets/pdfs/familyoutcomeshighlights.p 56. ECTA Center. Outcomes for children served through IDEA’s early childhood programs: 2012-13 Retrieved from:. http://ectacenter.org/eco/assets/pdfs/childoutcomeshighlights.pd 57. Edelman L. A relationship-based approach to early intervention. Resources and Connections 3, retrieved from:. http://www.cde.state.co.us/earlychildhoodconnections/Technical

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58. Epley P, et al. Family outcomes of early intervention: families’ perceptions of needs, services, and outcomes. J Early Interv. 2011;33:201–219. 59. Erwin E.J, Brown F. From theory to practice: a contextual framework for understanding self-determination in early childhood environments. Infants Young Child. 2003;16:77– 87. . 60. Espe-Sherwindt M. Family-centered practice: collaboration, competency and evidence. Support Learning. 2008;23:136– 143. 61. Farran D.C. Another decade of intervention for children who are low income or disabled: what do we know now? In: Shonkoff J.P, Meisels S.J, eds. Handbook of early childhood intervention. ed 2. New York: Cambridge University Press; 2000:510–548. 62. Forry N.D, et al. Family-provider relationships: a multidisciplinary review of high quality practices and associations with family, child, and provider outcomes, Issue Brief OPRE 2011-26a. Washington, DC: Office of Planning, Research and Evaluation, Administration for Children and Families, U.S. Department of Health and Human Services; 2011 Retrieved from:. http://www.acf.hhs.gov/sites/default/files/opre/family_provider_ 63. Friedman M, et al. Caregiver coaching strategies for early intervention providers. Infants Young Child. 2012;25:62–82. 64. Griffiths P.E, Gray R.D. Discussion: three ways to misunderstand developmental systems theory. Biol Philos. 2005;20:417–425. 65. Hadders-Algra M. Early diagnosis and early intervention in cerebral palsy. Frontiers Neurol. 2014;5:1–13. 66. Hanft E.H, Pilkington K.O. Therapy in natural environments: the means or end goal for early intervention? Infants Young Child. 2000;12:1–13. 67. Harbin G.L, et al. Early intervention service coordination policies: national policy infrastructure. Topics Early Child Spec Educ. 2004;24:89–97. 68. Hauser-Cram P, et al. Children with disabilities: a longitudinal study of child development and parent well-

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being. Monogr Soc Res Child Dev. 2001;66:1–114. 69. Hebbeler K, Barton L. The need for data on child and family outcomes at the federal and state levels. Young Exceptional Child. 2007;9:1–15. 70. Hebbeler K, et al. Early intervention for infants and toddlers with disabilities and their families: participants, services and outcomes. Menlo Park, CA: SRI International; 2007. 71. Hinojosa J, et al. Team collaboration: a case study. Qual Health Res. 2001;11:206–220. 72. Huang H.-H, Galloway J. Modified ride-on toy for early power mobility: a technical report. Pediatr Phys Ther. 2012;24:149–154. 73. Ideishi R, et al. Therapist’s role in care coordination between early intervention and medical health services for young children with special health care needs. Phys Occup Ther Pediatr. 2010;30:28–42. 74. Jacobs F.H, Kapuscik J.L. Making it count: evaluating family preservation services. Medford, MA: Tufts University; 2000. 75. Jones M, et al. Effects of power wheelchairs on the development and function of young children with severe motor impairments. Pediatr Phys Ther. 2012;24:131–140. 76. Jung L.A, Baird S.M. Effects of service coordinator variables on individualized family service plans. J Early Interv. 2003;25:206–218. 77. Jung L.A, Grisham-Brown J. Moving from assessment information to IFSPs: guidelines for a family-centered process. Young Exceptional Child. 2006;9:2–11. 78. Keilty B, et al. Early interventionists’ reports of authentic assessment methods through focus group research. Topics Early Child Spec Educ. 2009;28:244–256. 79. Kelly J.F, Barnard K.E. Assessment of parent-child interaction: implications for early intervention. In: Shonkoff J.P, Meisels S.J, eds. Handbook of early childhood intervention. New York: Cambridge University Press; 2000:258–289. 80. Kelly J.F, et al. Promoting first relationships: a relationshipfocused early intervention approach. Infants Young Child. 2008;21:285–295.

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81. King G.A, et al. Development of a measure to assess effective listening and interactive communication skills in the delivery of children’s rehabilitation services. Disabil Rehabil. 2012;34:459–469. 82. King G, Chiarello L. Family-centered care for children with cerebral palsy: conceptual and practical considerations to advance care and practice. J Child Neurol. 2014;29:1046–1054. 83. King G, Ziviani J. What does engagement look like? Goaldirected behavior in therapy. In: Poulsen A, Ziviani J, Cuskelly M, eds. Motivation and goal setting: engaging children and parents in therapy. London: Jessica Kingsley; 2015:70–79. 84. King G, et al. The application of a transdisciplinary model for early intervention services. Infants Young Child. 2009;22:211–223. 85. King S, et al. Family-centered service for children with cerebral palsy and their families: a review of the literature. Semin Pediatr Neuro. 2004;11:78–86. 86. LaRocco D.J, Bruns D.A. It’s not the “what,” it’s the “how”: four key behaviors for authentic leadership in early intervention. Young Exceptional Child. 2013;16:33–44. 87. Law M, et al. What is family-centered services? FCS Sheet #1, Can Child Centre for Childhood Disability Research. Hamilton, Ontario: McMaster University; 2003. http://www.canchild.ca/en/childrenfamilies/resources 88. Leiter V. Dilemmas in sharing care: maternal provision of professionally driven therapy for children with disabilities. Soc Sci Med. 2004;58:837–849. 89. Lobo M.A, et al. Grounding early intervention: physical therapy cannot just be about motor skills anymore. Phys Ther. 2013;93:94–103. 90. Long T, Toscano K. Handbook of pediatric physical therapy. ed 2. Philadelphia: Lippincott Willliams & Wilkins; 2002. 91. Long T, et al. Integrating assistive technology into an outcome-driven model of service delivery. Infants Young Child. 2003;16:272–283. 92. Lucas A, et al. Enhancing recognition of high quality, functional IFSP outcomes Retrieved

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from:. http://www.ectacenter.org/∼pdfs/pubs/ratingifsp.pdf, 2014. 93. MacKean G.L, et al. Bridging the divide between families and health professionals’ perspectives on family-centered care. Health Expect. 2005;8:74–85. 94. Maternal and Child Health Bureau. Definition and principles of family-centered care. Rockville, MD: Department of Health and Human Services; 2005. 95. McEwen I. Proving physical therapy services under parts B & C of the Individuals with Disabilities Education Act (IDEA), Section on Pediatrics. Alexandria, VA: American Physical Therapy Association; 2000. 96. McWilliam R.A, et al. The routines-based interview: a method for gathering information and assessing needs. Infants Young Child. 2009;22:224–233. 97. Milbourne S, et al. Competent therapist-reflective families: the crossroads of quality early intervention services. Washington, DC: Division for Early Childhood Conference; October 2003. 98. Morgan C, et al. Enriched environments and motor outcomes in cerebral palsy: systematic review and metaanalysis. Pediatrics. 2013;132:e735–e746. 99. National Research Council. Early childhood assessment: why, what, and how. Committee on Developmental Outcomes and Assessments for Young Children. In: Snow C.E, Van Hemel S.B, eds. Board on Children, Youth, and Families, Board on Testing and Assessment, Division of Behavioral and Social Sciences and Education. Washington, DC: The National Academies Press; 2008. 100. National Scientific Council on the Developing Child. The timing and quality of early experiences combine to shape brain architecture: working paper #5 Retrieved from:. http://www.developingchild.net, 2007. 101. Okimoto AM, et al.: Playfulness in children with and without disability: measurement and intervention, Am J Occup Ther 54:73–82. 102. Park H, et al.: Effects of early intervention on mental or neuromusculoskeletal and movement-related functions in

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children born low birthweight or preterm: a meta-analysis, Am J Occup Ther 68:268–276. 103. Park J, Turnbull A.P. Service integration in early intervention: determining interpersonal and structural factors for its success. Infants Young Child. 2003;16:8–58. 104. Pilkington K, Malinowski M: The natural environment II: uncovering deeper responsibilities within relationshipbased services, Infants Young Child 15:78–84. 105. Poulsen A, et al. Motivation and goal setting: engaging children and parents in therapy. London: Jessica Kingsley; 2015. 106. Public Law 105-17: Individuals with Disabilities Education Act Amendments of 1997, 111 Stat 37–157. 107. Public Law 108-446: Individuals with Disabilities Education Improvement Act of 2004, 118 Stat 2647–2808. 108. Public Law 99-457: Education of the Handicapped Amendments Act of 1986, 100 Stat 1145–1177. 109. Ragonesi C, Galloway J. Short-term, early intensive power mobility training: case report of an infant at risk for cerebral palsy. Pediatr Phys Ther. 2012;24:141–148. 110. Ramey C.T, et al. Infant health and development program for low birth weight, premature infants: program elements, family participation, and child intelligence. Pediatrics. 1992;89:454–465. 111. Raver S.A, Childress D.C. Collaboration and teamwork with families and professionals. In: Raver S.A, Childress D.C, eds. Familycentered early intervention. Baltimore, MD: Paul H. Brookes; 2015:31–52. 112. Rosenbaum P. Communicating with families: a challenge we can and must address!. Phys Occup Ther Pediatr. 2011;31:133–134. 113. Rous B, et al.: The transition process for young children with disabilities: a conceptual framework, Infants Young Child 20:135–148. 114. Rous B, et al.: Strategies for supporting transitions of young children with special needs and their families, J Early Interv 30:1–18. 115. Rush DD, et al.: Coaching families and colleagues: a process

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for collaboration in natural settings, Infants Young Child 16:33–47. 116. Rush D, Shelden M. The early childhood coaching handbook. Baltimore, MD: Paul H. Brookes; 2011. 117. Sameroff A. The transactional model of development: how children and contexts shape each other. Washington, DC: American Psychological Association; 2009. 118. Scales LH, et al.: Parents’ perceived benefits of physical therapists’ direct intervention compared with parental instruction in early intervention, Pediatr Phys Ther 19:196– 202. 119. Scott-Little C, et al.: Infant-toddler early learning guidelines: the content that states have addressed and implications for programs serving children with disabilities, Infants Young Child 22:87–99. 120. Scott-Little C, et al. Early learning guidelines resource: recommendations and issues for consideration when writing or revision early learning guidelines Retrieved from:. www.earlylearningguidelines-standards.org, 2010. 121. Section on Pediatrics of the American Physical Therapy Association. Natural learning environments in early intervention services Retrieved from:. https://pediatricapta.org/includes/factsheets/pdfs/Natural%20Env%20Fact%20Sheet.pdf, 2008. 122. Section on Pediatrics of the American Physical Therapy Association: Early intervention physical therapy: IDEA Part C. Retrieved from: https://pediatricapta.org/includes/factsheets/pdfs/IDEA%20EI.pdf, 2010. 123. Section on Pediatrics of the American Physical Therapy Association. List of pediatric assessment tools characterized by the ICF Retrieved from:. https://pediatricapta.org/includes/factsheets/pdfs/13%20Assessment&screening%20tools.pdf, 2012. 124. Section on Pediatrics of the American Physical Therapy Association. The role and scope of pediatric physical therapy in fitness, wellness, health promotion, and prevention Retrieved from:. http://pediatricapta.org/includes/fact-

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sheets/pdfs/12%20Role%20and%20Scope%20in%20Fitness%20Health% 125. Section on Pediatrics of the American Physical Therapy Association. Using a primary service provider approach to teaming Retrieved from:. https://pediatricapta.org/includes/factsheets/pdfs/13%20Primary%20Service%20Provider.pdf, 2013. 126. Section on Pediatrics of the American Physical Therapy Association. Transition worksheet for early intervention and school-based physical therapy providers Retrieved from:. https://pediatricapta.org/includes/fact-sheets/pdfs/EISB%20Transition%20Worksheet%20for%20Ped%20PTs.pdf, 2014. 127. Shannon P. Barriers to family-centered services for infants and toddlers with developmental delays. Soc Work. 2004;49:301–308. 128. Shelden M.L, Rush D.R. IFSP outcomes made simple. Young Exceptional Child. 2014;17:15–27. 129. Shogren K.A, Turnbull A.P. Promoting self-determination in young children with disabilities: the critical role of families. Infants Young Child. 2006;19:338–352. 130. Shonkoff J.P, Meisels S.J. Handbook of early childhood intervention. ed 2. New York: Cambridge University Press; 2000. 131. Shonkoff J.P, Phillips D.A. From neurons to neighborhoods: the science of early childhood development. Washington, DC: National Academy Press; 2000. 132. Siddiqi A, et al. Total environment assessment model for early child development: evidence report for the Commission on the Social Determinants of Health. Geneva, Switzerland: World Health Organization, Commission on the Social Determinants of Health; 2007. 133. Spagnola M, Fiese B.H. Family routines and rituals: a context for development in the lives of young children. Infants Young Children. 2007;20:284–299. 134. Stuberg W, DeJong S.L. Program evaluation of physical therapy as an early intervention and related service in special education. Pediatr Phys Ther. 2007;19:121–127. 135. Sullivan M, Lewis M. Assistive technology for the very young: creating responsive environments. Infants Young

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Child. 2000;12:34–52. 136. Swanson J, et al. Strengthening family capacity to provide young children everyday natural learning opportunities. J Early Child Res. 2011;9:66–80. 137. Tatarka M.E, et al. The role of pediatric physical therapy in the interdisciplinary assessment process. In: Guralnick M.J, ed. Interdisciplinary clinical assessment of young children with developmental disabilities. Baltimore: Paul H. Brookes; 2000:151–182. 138. Trivette C.M, et al. Influences of family-systems intervention practices on parent-child interactions and child development. Topics Early Child Spec Educ. 2010;30:3–19. 139. Turnbull A.P, et al. Family supports and services in early intervention: a bold vision. J Early Interv. 2007;29:187–206. 140. Ulrich D, et al. Effects of intensity of treadmill training on developmental outcomes and stepping in infants with Down syndrome: a randomized trial. Phys Ther. 2008;88:114–122. 141. Valvano J, Rapport M.J. Activity-focused motor interventions for infants and young children with neurological conditions. Infants Young Child. 2006;19:292– 307. 142. Warfield M.E. Early intervention program evaluation workshop. Philadelphia: MCP Hahnemann University; May 14, 2002. 143. Washington State Department of Health. Nutrition interventions for children with special health care needs. ed 3. Washington State Department of Health; 2010 Retrieved from:. http://here.doh.wa.gov/materials/nutritioninterventions/15_CSHCN-NI_E10L.pdf. 144. Woods J.J, Lindeman D.P. Gathering and giving information with families. Infants Young Child. 2008;21:272– 284. 145. Workgroup on Principles and Practices in Natural Environments. OSEP TA Community of Practice: part C settings/Agreed upon mission and key principles for providing early intervention services in natural environments Retrieved from:. http://ectacenter.org/

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∼pdfs/topics/families/Finalmissionandprinciples3_11_08.pdf 2008. 146. World Health Organization. ICIDH2: International Classification of Functioning, Disability and Health. Geneva: World Health Organization; 2001. 147. Xu Y. Developing meaningful IFSP outcomes through a family-centered approach using the Double ABCX Model. Young Exceptional Child. 2008;12:2–19. 148. Zeanah G. The handbook of infant mental health. New York: Guilford Press; 2009.

Suggested Readings Catalino T, et al. Promoting professional development for physical therapists in early intervention. Infants Young Child. 2015;28:133– 149 Note: This article is part of a special edition of Infants & Young Children highlighting professional development for early intervention providers. Chiarello L, Effgen S. Update of competencies for physical therapists working in early intervention. Pediatr Phys Ther. 2006;18:148–158. Division for Early Childhood. DEC recommended practices in early intervention/early childhood special education 2014. 2014 Available at:. http://www.dec-sped.org/recommendedpractices. Public Law 108-446: Individuals with Disabilities Education Improvement Act of 2004, 118 Stat 2647–2808. Available at: http://idea.ed.gov/explore/home.

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The Educational Environment Susan Effgen, and Marcia K. Kaminker

Almost from the start of physical therapy in the United States, physical therapists have worked in educational environments. The civil rights movement of the 1960s and federal legislation of the1970s, however, marked the beginning of major changes in services for all children with special needs in school settings. As a consequence of continued federal and state mandates for the education of students with disabilities, the school system has become the practice setting that employs the greatest number of pediatric physical therapists. Since 1975, a generation of physical therapists has been instrumental in advocating for school-based practice and the development of standards for practice.46 The educational setting is unique in emphasizing individualized outcomes for student participation in the education program and continues to present opportunities and challenges for pediatric therapists. This chapter reviews the history of the delivery of physical therapy in educational environments, in addition to discussing federal legislation and court cases that have changed how children with disabilities are educated and receive physical therapy. Key topics related to physical therapy in educational environments are presented, including inclusive education, models of team interaction, service-delivery models, the individualized educational program (IEP), and intervention strategies. Critical

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issues facing physical therapists working in educational settings are also highlighted.

Background Information Although the history of physical therapy in the United States is traced to “reconstruction aides” serving the injured of World War I, it can also be traced to the service of “crippled children,” especially those with poliomyelitis. In major cities early in the 20th century, children with physical disabilities were served in hospitals and special schools. The children had a variety of diagnoses, including poliomyelitis and spastic paralysis,23,56 cardiac disorders, “obstetric arms” (brachial plexus injuries), bone and joint tuberculosis, clubfeet, and osteomyelitis.16,23,95 By the 1930s, numerous articles had been published describing the delivery of physical therapy in these special schools.16,95,128,140 Epidemics of poliomyelitis increased the need for special schools and physical therapists. After the vaccine for poliomyelitis was developed in the 1950s, the need for special schools was temporarily reduced, until public awareness increased regarding the needs of children with other disabilities. Historically, most children in special schools had normal or nearnormal intelligence. Many schools required children to be toilet trained, and some required children to walk independently. This trend to serve only those with physical disabilities and normal intelligence continued in many areas of the United States until schools were federally mandated in 1975 to serve all children with disabilities by the enactment of Public Law (PL) 94-142, the Education for All Handicapped Children Act.116

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Federal Legislation and Litigation A number of social and political events paved the way for the enactment of the Education for All Handicapped Children Act. In 1954, the historic US Supreme Court decision regarding segregated schools was handed down: Brown v. Board of Education of Topeka.21 Separate-but-equal schools were found inherently unequal. This Supreme Court decision was to end the segregated education of African-American children, but the principles and foundation of this case could also apply to segregated schools for those with disabilities. The call for social equality had begun and would eventually include those with disabilities. President Kennedy’s personal experience with his sister who had a disability expedited his establishment in 1961 of the President’s Panel on Mental Retardation. Television documentaries exposed institutions in New York, and Blatt and Kaplan’s book, Christmas in Purgatory: A Photographic Essay on Mental Retardation,18 raised national concern for the care and treatment of individuals with disabilities. Leaders such as Wolfensberger144 were influential proponents of deinstitutionalization and normalization. Cruickshank noted that “as is usually the case with major changes in social policy, the normalization trend is not based on empirical data showing greater effectiveness or efficiency of the changes proposed by its advocates”.31 Instead, it focused on the civil rights of individuals, a prevailing anti-institutional attitude—especially governmental institutions—and a commitment “to the democratic, the individualistic, and the humanitarian”.31 The federal Developmental Disabilities Assistance and Bill of Rights Act of 1975 (PL 94-103)115 included a provision that states had to develop and incorporate a “deinstitutionalization and institutional reform plan”.20 Advocacy groups had gained power, and they used the judicial system to win their rights. The Pennsylvania Association for Retarded Citizens (PARC) v. Commonwealth of Pennsylvania (1971)103 was the historic, decisive court case establishing the uncompromising right to an education for all children with disabilities. This was a class-action suit on behalf of 14 specific children and all other children who were in a

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similar class to those with trainable mental retardation. In Pennsylvania, a child was excluded from public school if a psychologist or other mental health professional certified that attendance at school was no longer beneficial for that child. The local school board could refuse to accept or retain a child who had not reached the mental age of 5 years. Children classified as trainable mentally retarded, therefore, were unable to receive a public education in Pennsylvania. The court sided with the children. In PARC v. Commonwealth of Pennsylvania, the court found that all children between 6 and 21 years of age, regardless of degree of disability, were to be given a “free and appropriate public education (FAPE).”103 Children with disabilities were to be educated with children without disabilities in the least restrictive environment (LRE). The educational system was ordered to stop applying exclusionary laws, parents were to become involved in the child’s program, and reevaluations were to be conducted. This landmark court case established many important principles that were later incorporated into the Education for All Handicapped Children Act. Simultaneous with the PARC case, other important court cases were being decided. Mills v. Board of Education of the District of Columbia (1972)92 was filed on behalf of all children excluded by public schools for a disability of any kind, including behavioral problems. The major result of this case was that all children, no matter how severe their mental retardation, behavioral problem, or disability, were educable and must be provided for suitably by the public school system. Related services, including physical therapy, were to be part of their educational program. In Maryland Association for Retarded Citizens v. Maryland (1972),92 it was ruled that children have the right to tuition subsidies, the right to transportation, and the right to be educated with children who are not disabled. These cases and others across the nation began to establish the right of all children to a “free and appropriate public education.” It was in this climate that PL 94-142 was enacted.

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PL 94-142: Education for all Handicapped Children Act Provisions On November 29, 1975, the US Congress passed PL 94-142, the Education for All Handicapped Children Act.116 The law included the elements won in individual court cases across the nation and provided for a “free and appropriate public education” for all children with disabilities from ages 6 to 21 years (age 5 years if a state provided public education to children without disabilities at age 5 years). The major provisions of PL 94-142, still in place today, concern the concepts of zero reject, education in the least restrictive environment, right to due process, nondiscriminatory evaluation, individualized educational program, parent participation, and the right to related services, which include physical therapy.

Zero Reject All children, including children with severe or profound disabilities, are to receive an education. Initially these children were to receive priority for service because they probably were not receiving appropriate service at that time.

Least Restrictive Environment Public agencies are to ensure the following: To the maximum extent appropriate, children with disabilities, including children in public or private institutions or other care facilities, are educated with children who are not disabled, and special classes, separate schooling, or other removal of children with disabilities from the regular educational environment occurs only when the nature or severity of the disability of a child is such that education in regular classes with the use of supplementary aids and services cannot be achieved satisfactorily. [PL 108-446, 118 Stat. 2677, § 612 (a)(5)(A)]112

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Right to Due Process The law provides parents with numerous rights. Parents have the right to an impartial hearing, the right to be represented by counsel, and the right to a verbatim transcript of a hearing and written findings. They can appeal and obtain an independent evaluation. Later, under PL 99-372, the Handicapped Children’s Protection Act [1986, 20 USC § 1415(e)(4), (f)], parents would be able to be reimbursed for legal fees if they prevailed in a court case.117

Nondiscriminatory Evaluation Several court cases had noted the discriminatory nature of the testing and placement procedures used in many school systems. Nondiscriminatory tests were to be administered, and no one test could be the sole criterion on which placement was based. Nondiscriminatory testing is critical in the cognitive and language domain; however, physical therapists, too, should be careful to determine that their tests are not biased. When possible, standardized tests that have norms for different racial and cultural groups should be used.

Individualized Educational Program Every child receiving special education must have an individualized educational program (IEP). This is the comprehensive program outlining the specific special education, related services, and supports the child is to receive. It includes measurable annual goals. The IEP is developed annually at an IEP meeting.

Parent Participation Active participation of parents is encouraged under PL 94-142. Parents are the individuals responsible for continuity of services for their child and should be the child’s best advocates. Parents are major decision makers in the development of the IEP. They must give permission for an evaluation, they can restrict the release of information, they have access to their child’s records, and they can

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request due process hearings.

Related Services Related services, such as transportation, speech-language pathology, audiology, psychological services, physical therapy, occupational therapy, recreation, and medical and counseling services, are to be provided “as may be required to assist a child with a disability to benefit from special education” [PL 94-142, 89 Stat. 775, PL 108-446, 118 Stat. 2657, § 602 (26);].111,116 This quotation from the law has been interpreted in many different ways. Physical therapy “to assist a child with a disability to benefit from special education” in some school systems is limited to only those activities that help the child write or sit properly in class. Other school systems more appropriately interpret the law to mean physical therapy that can help the child explore the environment, perform activities of daily living, improve function in school, prepare for vocational training, and improve physical fitness to be better prepared to learn and participate in a full life after school. This fulfills the purpose of IDEA, to prepare children “for further education, employment, and independent living [PL 108-446, Section 601 (d)(1)(A)].112 Related service personnel are also now referred to as specialized instructional support personnel (SISP).

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PL 99-457: Education of the Handicapped Act Amendments of 1986; PL 102-119: Individuals with Disabilities Education act Amendments of 1991; PL 105-17: Individuals with Disabilities Education Act Amendments of 1997; PL 108-446: Individuals with Disabilities Education Improvement Act of 2004 Congress must reauthorize the law at set intervals. At each reauthorization, the number of the public law changes to indicate which Congress is reauthorizing the law (the first number after PL) and which bill it is for that Congress (second number). In 1986, the reauthorization, PL 99-457, the Education of the Handicapped Act Amendments of 1986,118 was particularly critical because this act extended services to infants, toddlers, and preschoolers with disabilities and their families. Services to infants and toddlers, now covered under Part C of the law, are discussed in Chapter 30. On October 7, 1991, PL 94-142 and PL 99-457 were reauthorized and amended as PL 102-119, the Individuals with Disabilities Education Act Amendments of 1991 (IDEA).108 PL 105-17 was signed into law in June 1997,109 and PL 108-446, the Individuals with Disabilities Education Improvement Act of 2004,112 was signed on December 3, 2004. PL 108-446 was to be reauthorized in 2010, but this has been delayed. The reader is urged to check for information on the reauthorization and any new rules and regulations. The key elements of these reauthorizations, which comprise refinement and reorganization of the previous amendments, are described in this section.

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Part A: General Provisions Congress found the following: Disability is a natural part of the human experience and in no way diminishes the right of individuals to participate in or contribute to society. Improving educational outcomes for children with disabilities is an essential element of our national policy of ensuring equality of opportunity, full participation, independent living, and economic self-sufficiency for individuals with disabilities. [PL 108-446, 118 Stat. 2649, § 601(c)]112 Critical to this policy is the recognition that education encompasses more than traditional academics and is also intended to prepare children for independent living and self-sufficiency. This expands the goals that can be considered “educationally relevant.” Additionally, principles of universal design, which are part of the Assistive Technology Act of 1998,110 have been added to IDEA 2004. These include the design of products that can be usable by all people, to the greatest extent possible, with minimal need for adaptations and accommodations. These elements strengthen the physical therapist’s role in providing access to the educational environment and learning materials.

Part B: Assistance for Education of All Children With Disabilities Part B outlines the right for all children 3 to 21 years of age to “a free appropriate public education [FAPE], that emphasizes special education and related services designed to meet their unique needs and prepare them for further education, employment, and independent living” [20 USC 1400. Sec. 601. (d)(1)(A)].112 Children 3 to 5 and 18 to 21 years of age might not be served if inconsistent with state law. States are mandated to identify, locate, and evaluate all children with disabilities. Children considered eligible for special education and related services are those having one or more of the following disabilities: mental retardation [now referred to as intellectual impairment], hearing impairments (including deafness), speech or language impairments, visual impairments (including blindness), …

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emotional disturbance, orthopedic impairments, autism, traumatic brain injury, other health impairments, or specific learning disabilities and who, by reason thereof, need special education and related services. (20 USC 1401. Sec. 602. (3)(A)(i) At the discretion of the state, a child with a disability might also include those experiencing developmental delays at age 3 to 9 years. Children 3 to 5 years of age are to have IEPs, as are school-age children; however, the 1991 reauthorization, PL 102-119,108 allowed states the option of using individualized family service plans (IFSPs), required for infants and toddlers, for preschool-age children. The 2004 reauthorization also allows states the option to continue to provide early intervention services to children with disabilities until the child enters kindergarten or elementary school [PL 108-446, 118 Stat. 2746, § 632(5)(B)(ii)].112 Some professionals believe that preschoolers and their families are better served by the family-centered approach embodied in early intervention.

Least Restrictive Environment An ongoing area of national effort is the education of children with disabilities in the least restrictive environment (LRE). Children should be educated in their local schools to the maximum extent appropriate. The degree of inclusion in the local school and the general education classroom will vary based on what is appropriate for each child. Children are not merely to be placed in general education, but they are to participate fully and have goals related to their academic and social advancement. Since 1990, a significant reduction has occurred in the placement of children with disabilities in separate facilities and segregated classrooms, along with substantial increases in the amount of time they spend in regular classrooms.138

Transition Transition planning was specifically addressed in IDEA 1997,109 because this important service had often been neglected. Transition planning and required services must be included in the IFSP and IEP. Consideration must be given to transition from early

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intervention to preschool, from preschool to school, at critical points during school years, and especially from age 16 years to exit from school. Physical therapists and other related service personnel are to be involved in transition planning for post-school activities, as appropriate. Transition to adulthood is presented in Chapter 32.

Assistive Technology Assistive technology devices and assistive technology services allow the child to benefit fully from the educational program: The term “assistive technology device” means any item, piece of equipment, or product system, whether acquired commercially off the shelf, modified, or customized, that is used to increase, maintain, or improve the functional capabilities of a child with a disability … “assistive technology service” means any service that directly assists a child with a disability in the selection, acquisition, or use of an assistive technology device. [PL 108-446, 118 Stat. 2652, § 602(1)]112 Assistive technology services include evaluation, selection, purchasing, and coordination with education and rehabilitation plans and programs. This is an important area, as physical therapists frequently provide assistive devices to improve a child’s function and participation in school. Therapists adapt seating so children can function better and safely in the classroom. They assist other team members in devising communication systems, along with providing access to switching devices and computers. Physical therapists are generally the key related service providers involved in the choice and maintenance of mobility devices, including walkers, crutches, canes, and manual and power wheelchairs. These mobility devices allow children with disabilities to access the school building and grounds and thereby participate in all aspects of their education program. The extent of assistive technology services and the purchasing of devices vary among school systems. For additional information, see Chapter 33.

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Early intervening services (EISs) and response to intervention (RTI) are both new to IDEA 2004. An EIS focuses on children from kindergarten to grade 3 who would benefit from additional academic services and behavioral support to succeed in the general education environment.112 RTI involves high-quality instruction/intervention, using the student’s learning rate and level of performance for decision making. Important educational decisions are based on the student’s response to instruction/intervention across multiple tiers.10 RTI is an evaluation and intervention process used to monitor student progress and make data-based decisions about the need for and provision of instructional modification, evidence-based intervention, and increasingly intensified services for students having problems in school. The goal of RTI is to prevent over-identification of children for special education, especially those with potential learning disabilities. RTI is a departure from deficit-based assessments and focuses on possible successful interventions rather than “what is wrong” with the student. It is a multitiered service-delivery model with differentiated instruction to meet the individual needs of all students, not just those with specific disabilities.4 RTI holds many promises, in that collaboration and teaming are required to support implementation. RTI is defined by high-quality instruction and provides a curriculum structure that can be implemented in an inclusive setting.70 RTI allows therapists to participate with the team to meet a student’s needs prior to establishing eligibility for special education. Therapists may offer expertise in many areas, such as in modifying classrooms, suggesting learning strategies, providing adaptive equipment, or any necessary intervention. The goals incorporate what is required for the student to succeed in the curriculum with the fewest restrictions. Questions often arise regarding RTI and the need for written parental approval to perform an evaluation, parental approval to provide services, and the extent of documentation necessary for evaluation and intervention. Answers to those questions will depend on individual state physical therapy practice acts and regulations5; however, it is usually appropriate to obtain written permission from parents for any form of evaluation and

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intervention. Documentation of interaction with a child is always an important element of ethical practice.

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Section 504 of the Rehabilitation Act Section 504 of the Rehabilitation Act of 1973 (PL 93-112)114 is a comprehensive antidiscrimination statute designed to ensure that federal funding recipients—including schools—provide equal opportunity to people with disabilities. It has been used to expand a student’s eligibility for related services in school. Educational agencies that receive federal funds are not allowed to exclude qualified individuals with disabilities from participation in any program offered by the agency. The definition of qualified “handicapped person” under Section 504 is broader than it is in IDEA. Under Section 504, “qualified handicapped person means any person who (i) has a physical or mental impairment which substantially limits one or more major life activities, (ii) has a record of such an impairment, or (iii) is regarded as having such an impairment” [34CFR104.3(j)(1)].114 “Major life activities means functions such as caring for one’s self, performing manual tasks, walking, seeing, hearing, speaking, breathing, learning, and working” [34CFR104.3(j)(2)(ii)]. The Americans with Disabilities Amendments Act of 2008 (ADAAA)113 includes a “conforming amendment” to Section 504, which means that the expanded coverage of ADAAA also applies to Section 504. The ADAAA retains the definition of disability under Section 504 but emphasizes that it should be interpreted broadly139: [The ADAAA] directs that the ameliorating effects of mitigating measures (other than ordinary eyeglasses or contact lenses) not be considered in determining whether an individual has a disability; expands the scope of “major life activities” by providing a nonexhaustive list of general activities and a non-exhaustive list of major bodily functions; clarifies that an impairment that is episodic or in remission is a disability if it would substantially limit a major life activity when active.139 Thus it is possible that a child who does not require special education according to the accepted definitions of disabilities under IDEA, but who is a qualified handicapped person, might be able to receive all the aids, services, and accommodations necessary to receive a free and appropriate public education through Section

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504. Nationally, only 1.2% of public school students are Section 504 students, with the greatest numbers in middle and high school having attention deficit hyperactivity disorder.64 The ADAAA means that more students will qualify for support under Section 504.74 Interpretation of Section 504 varies among states and even among individual school districts; in some districts, students with 504 plans may receive direct physical therapy services or consultation, but in other districts they may not.

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PL 101-336: Americans with Disabilities Act The Americans with Disabilities Act (ADA) (PL 101-336)107 was signed into law on July 26, 1990. It “extends to individuals with disabilities comprehensive civil rights protection similar to those provided to persons on the basis of race, sex, national origin, and religion under the Civil Rights Act of 1964.” The regulations cover employment; public service, including public transportation, public accommodations, and telecommunications; and miscellaneous provisions. Although the law does not specifically address issues related to children in school, the provisions of ADA assist students with disabilities. The law is especially applicable to day care centers and transition to employment. Public buildings, including schools, must be accessible, and children should be able to use public transportation to get to school, work, and social activities. Children with disabilities should expect to use the skills learned at school in an accessible workplace. The ADA is also discussed in Chapter 32, Transition to Adulthood for Youth With Disabilities.

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Elementary and Secondary Education Act The Elementary and Secondary Education Act of 1965 (ESEA) was passed as part of the “War on Poverty.” ESEA emphasizes equal access to education of all children and encourages high standards and accountability. The law provides federal funding for education programs that are administered by the states. Congress amended and reauthorized ESEA as the No Child Left Behind Act of 2001 (NCLB) (PL 107-110).112 This federal legislation was to ensure that all children, including those with disabilities, receive a high-quality education. To achieve this goal, all children were to demonstrate “adequate yearly progress” on standardized tests. There has been considerable criticism of this legislation. “Among these concerns are: over-emphasizing standardized testing, narrowing curriculum and instruction to focus on test preparation rather than richer academic learning, over-identifying schools in need of improvement, using sanctions that do not help improve schools, inappropriately excluding children with lowscores in order to boost test results, and inadequate funding.”97 In 2003, new federal provisions were announced, in recognition of the failure of NCLB to properly address the testing of children with disabilities and to meet annual yearly progress for closing the achievement gap. Under these provisions, local educational agencies (LEAs) have greater flexibility in meeting the requirements of NCLB.50 Each state is now responsible for determining the definition of significant cognitive disabilities. To assist with the demands of NCLB, physical therapists working in school systems should ensure that children are properly positioned and have appropriate writing implements or computer access for testing situations. ESEA is being reviewed for reauthorization and the reader should seek information on how the reauthorized law might impact physical therapy service delivery.

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Case Law A law as comprehensive and complex as IDEA was bound to lead to some controversy. All possible situations could not be anticipated, and some issues were expected to be resolved by the courts. Disagreements that have led to due process hearings involving physical therapy have generally focused on (1) adequacy of physical therapy services, (2) qualifications and training of personnel, (3) need for services over the summer or during school breaks, (4) compensatory physical therapy, and (5) types of intervention provided.73 As a result of due process disagreements, a number of state and federal court cases have helped define the scope of the law. Those of interest to physical therapists include cases involving related services, best possible education, extended school year (ESY), and LRE.

Related Services Tatro v. Texas84 was one of the early major cases involving PL 94142. Amber Tatro had spina bifida and required clean intermittent catheterization several times during the school day. Her parents wanted assistance with catheterization at school. School officials refused, claiming that catheterization is a medical procedure, and Amber could not attend school unless her parents handled the procedure. The parents then initiated what turned out to be a 10year legal battle. During the legal process, they were told that although catheterization was necessary to sustain Amber’s life, it was not necessary to benefit from education; the school system, therefore, was not obligated to provide the service. After a complicated course through the court system, the US Supreme Court heard the case. Amber attempted to attend the proceedings, only to discover that the building was not wheelchair accessible. The Supreme Court ruled that clean intermittent catheterization was a related service that enabled the child to benefit from special education: A service that enables a handicapped child to remain at school during the day is an important means of providing students with

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the meaningful access to education that Congress envisioned. The Act makes specific provision for services, like transportation, for example, that do no more than enable a child to be physically present in class.69 This case led to the “bright-line” physician-nonphysician rule that a school district is not required to provide services of a physician (other than for diagnostic and evaluation purposes) but must offer those of a nurse or qualified layperson. This case is important to physical therapists because the realm of related services was expanded, as was the meaning of “required to benefit from special education.” Court cases have also involved related services and children who are medically fragile and require extensive services of a nurse and others. Some states advocate the use of an extent/nature test, in which decision making focuses on the individual case and considers the complexity of and need for services. The US Supreme Court in Cedar Rapids Community School District v. Garret F (1999)27 reaffirmed that related services (in this case, nursing services) were not excluded medical services under IDEA and must be provided in schools, irrespective of the intensity or complexity of the services. This decision supported the right to an education for children with complex health care needs.

Best Possible Education Board of Education of Hendrick Hudson Central School District v. Rowley19 involved Amy Rowley, who was deaf. She had a special tutor, her teachers were trained in basic sign language, and she was provided with a sound amplifier. After experimenting with a sign language interpreter in a general education class, the school system decided she did not need the service. Her parents believed she needed the interpreter and went through due process to continue interpreter services. A district court held that Amy was not receiving a free and appropriate public education because she did not have “an opportunity to achieve her full potential commensurate with the opportunity provided to other children.” The school district appealed, and the case eventually went to the US Supreme Court. The 1982 Supreme Court decision held that

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Congress did not intend to give children with disabilities the right to the best possible education (i.e., education that would “maximize their potential”).19 It rejected the standard used by the lower courts that children with disabilities are entitled to an educational opportunity “commensurate with the education available to nonhandicapped children.” The decision set two standards: (1) a state is required to provide meaningful access to education for each child with a disability, and (2) sufficient supportive and related services must be provided to permit the child to benefit educationally from special education instruction. When the Supreme Court applied these standards in Rowley, it found that Amy did not need interpreter services because she was making “exemplary progress in the regular education system” with the help of the extensive special services. The Supreme Court was careful to point out that merely passing from grade to grade does not mean a child’s education is appropriate. The Rowley decision has had a major impact on the provision of related services, including physical therapy. Unfortunately, in some school systems it has been used to limit the amount of physical therapy provided on the premise that schools are not obligated to provide the “best services.” Therapists should recognize that “exemplary progress” may be a reason to terminate services unless an educational need for physical therapy can be substantiated.

Extended School Year As children with special needs began to benefit from their educational programs, some parents realized that their children’s skills were regressing during the summer and that it took several months to regain those skills when the children returned to school in the fall. Because the US Congress had realized that more than the traditional 12 years of schooling might be necessary for children with disabilities to reach their potential, perhaps it could be inferred that if a child regressed during the summer, extended school year services might be necessary.84 Several court cases addressed this issue. In both Battle v. Commonwealth of Pennsylvania (1981)17 and Georgia Association of Retarded Citizens v. McDaniel (1981),54 parents sought to extend

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the school year. In Pennsylvania, it was found that the state’s policy of defining a school year as 180 days could not be used to prevent the provision of an extended school year. In Georgia, the court ruled that an extended school year must be based on individual cases. The child must show significant regression following school breaks, the extended year must be part of the IEP, and an extended year does not mean 5 days a week for 52 weeks but must be based on a program to attain goals. Eligibility for extended school year (ESY) services is based on several criteria. These include “individual need, nature and severity of the disability, educational benefit, regression and recoupment, self-sufficiency and independence, and failing to meet short-term goals and objectives” (p 16).124 The possibility of receiving services for the entire year has many implications for physical therapy. The children most likely to require ESY services are usually those with the most severe disabilities, often requiring physical therapy. Some children may be deemed eligible for ESY academic services but not need ESY physical therapy services. One criterion used to qualify for ESY services is documentation of regression during vacations and the length of time it takes to recoup or relearn skills. It is therefore vital for physical therapists to do an examination and evaluation before and after school breaks. Documentation of regression, especially during short breaks, might enable a child to receive physical therapy during the summer. Using the child’s status at the end of the summer as the basis for ESY physical therapy services might be confounded, however, if the child receives private physical therapy during the summer and regression is prevented. An ethical dilemma can arise for some physical therapists over the ESY issue. Some school therapists provide private physical therapy during the summer and might prefer that the school system not provide the service. Others might not want the obligation of having to provide services during the summer, either through the school or privately. Therapists must be careful to recognize these potential conflicts of interest.

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The issue of LRE, also referred to as inclusion, has generated much discussion over the years; it has also generated many due process hearings and lawsuits. Outcomes have been mixed. During the early 1990s, the party seeking inclusion, usually the parent, prevailed in a series of court cases, the most noted being Oberti (3d Cir. 1993) and Daniel R.R. (5th Cir. 1989).146 Later cases ruled against inclusive, general education placements as the LRE for students who were past elementary-school age and had severe disabilities. A rational approach must prevail in issues regarding inclusion. As discussed later in the chapter, options must exist for locations and types of services available to the child that can and should change over time.

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Educational Milieu Although for many years, physical therapists have served children with disabilities in the general education setting, educational administrators and teachers vary in their perceptions of the role of physical therapy. Similarly, physical therapists have different perspectives of their role in the educational milieu. Hence, open communication and collaboration are essential. To create an effective working environment, physical therapists must take the time to develop relationships with administrators, teachers, and staff, and they need to understand the written and unwritten rules of the educational environment.

Least Restrictive Environment Education of all children in the LRE, no matter how severe their disabilities, is the intent of the federal laws and is considered “best practice” (PL 105-17; PL 108-446).91,136 The conceptual framework for education in the LRE started in the 1960s. Reynolds125 advocated a continuum of placement options from most restrictive to least restrictive. Deno36 named this the cascade of educational placements. The cascade of environments, from most to least restrictive, includes the residential setting, homebound services, special schools, special classes in neighborhood schools, general classes with resource assistance in neighborhood schools, and general classes in the neighborhood school without resource assistance. Taylor,136 a longtime advocate for total integration of people with severe disabilities, proposed that the focus must change from expecting individuals to fit into existing programs to providing services and supports necessary for full participation in community life. Terminology used to describe LRE has evolved from mainstreaming, to integrated, to inclusive. The differences in terms are more than merely a change in language. Inclusive education at its best involves the whole school where children with disabilities are served in the general education environment with the required “supplementary aids and services.”83 Models for meeting a student’s needs in an inclusive

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setting include (1) general education and special education teachers co-teaching during all or part of the curriculum; (2) indirect, consultative support from the special education teacher; (3) material adaptation by the special education teacher; (4) including the special education teacher as a member of the team serving the child; and (5) a school-wide approach whereby the entire staff takes responsibility for all students.83 As part of inclusive education, therapists are encouraged to provide services in the context of the student’s education program with other students present. Compliance with LRE requirements occurs to varying degrees across the nation. Physical therapists need to develop collaborative working relationships with all appropriate personnel for maximum communication and team effectiveness and for optimal student outcomes. Therapists must be prepared to work with administrators, teachers, and staff who may know little about children with disabilities and the role of the physical therapist in educational settings. This presents a challenging and potentially rewarding opportunity for therapists to share their knowledge about the health conditions of students with disabilities including activity accommodations, assistive technology, and environmental modifications to enable full participation in the education program. Interaction with other physical therapists is often limited when only a few children receive physical therapy services at each school. Therapists might also need to travel long distances to see a single child, and scheduling services and times to meet with teachers can be difficult. The reader is encouraged to examine other references for a more in-depth discussion of positive outcomes and aspects of inclusion.25,28,57,86,121,127

B O X 3 1 . 1 Models

of Team Interaction

Unidisciplinary: Professional works independently of all others. Intradisciplinary: Members of the same profession work together without significant communication with members of other professions. Multidisciplinary: Discipline-specific roles are well defined and professionals work independently but recognize and value the contributions of other disciplines. There may be little

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interaction among professionals. However, the Rules and Regulations (Federal Register, June 22, 1989, p 26313) for PL 99457 redefine multidisciplinary to mean “the involvement of two or more disciplines or professions in the provision of integrated and coordinated services, including evaluation and assessment.” Interdisciplinary: Discipline-specific roles are well defined; however, individuals from different disciplines work together cooperatively on planning, implementation, and evaluation of services. Emphasis is on teamwork. Role definitions are relaxed. Transdisciplinary: Professionals are committed to working across disciplines and sharing information. Role release occurs when a team member assumes the responsibilities of other disciplines for service delivery. Collaborative: The team interaction of the transdisciplinary model is combined with the integrated service-delivery model. Professionals provide services across disciplinary boundaries as part of the natural routine of the school and community.

Models of Team Interaction An evolution in the models of team interaction has occurred. The hierarchy of team interaction is presented in Box 31.1. A unidisciplinary model is not collaborative and should rarely, if ever, be used in school settings. The multidisciplinary model involves several professionals conducting independent evaluations and then meeting to discuss their evaluations and determine goals, objectives, and a plan of action. The meaning of multidisciplinary has changed since 1986 because of its usage in PL 99-457.118 In the law, the term multidisciplinary is used to describe an interdisciplinary model, causing frequent confusion. The definition and application of the transdisciplinary model are also ambiguous. For some, the continuous sharing of information across disciplines is sufficient for a transdisciplinary model. For others, there must be complete role release, which involves not just the sharing of information but also the sharing of performance competencies. Team members teach each other interventions so that all can provide greater consistency and frequency in meeting the

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child’s needs. Occasionally in a transdisciplinary model, only one individual provides the intervention, thereby increasing consistency and allowing rapport to be established with the child and family. As the team process has developed, several authors have advocated use of terms that describe the dynamics of team interaction and may include a combination of models based on the specific needs of educators, therapists, children, and families.61,66,122,131 The defining characteristics of collaborative teamwork, as conceptualized by Rainforth and York-Barr,122 are summarized in Box 31.2. Advantages of the collaborative model are derived from the diverse perspectives, skills, and knowledge available among individuals on the educational team. This combined talent is an enormous resource for problem solving and support. Collaborative teams are of vital importance when working with children with multiple disabilities or with those who are severely or profoundly disabled. When joining a team, physical therapists should ask for clarification regarding models or expectations of team interaction. All individuals should have the same understanding to avoid miscommunication and conflict.

B O X 3 1 . 2 Characteristics

of Collaborative

Teamwork • Equal participation in the team process by family members and service providers • Consensus decision making in determining priorities for goals and objectives • Consensus decision making about the type and amount of intervention • All skills, including motor and communication skills, embedded throughout the intervention program • Infusion of knowledge and skills from different disciplines into the design and application of intervention • Role release to enable team members to develop the confidence and competence necessary to facilitate the child’s learning Adapted from Rainforth B, York-Barr J: Collaborative teams for students with severe

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disabilities, ed 2, Baltimore, 1997, Paul H. Brookes.

TABLE 31.1 Physical Therapy Service-Delivery Models in Educational Settings

IEP, individualized educational program; OTA, occupational therapist assistant; OT, occupational therapist; PT, physical therapist; and PTA, physical therapist assistant. Adapted from Iowa Department of Education: Iowa guidelines for educationally related physical services, Des Moines, IA, 1996, State of Iowa, Department of Education.

Models of Service Delivery Service-delivery models are frameworks that describe the format in which intervention is provided.78 Common models include direct, integrated, consultative, monitoring, collaborative, and relational goal-oriented models. In their nationwide survey of school-based physical therapists, Kaminker and colleagues76 found that therapists reported providing services most often through a combination of these models (Table 31.1). Effgen and colleagues found that most of the service was provided directly to the student without other students present42 and separate from a school activity.47

Direct Model In the direct model, the therapist is the primary service provider for the child. This is the most common model of physical therapy

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service delivery across practice settings. Direct intervention is provided when there is emphasis on acquisition of motor skills and when therapeutic techniques cannot be safely delegated. It may take place in the context of the student’s natural environment or, if necessary, in an isolated pullout setting; in either case, ongoing consultation with parents, teachers, and other team members is essential.61 A child may receive direct intervention for one goal, whereas other models of service delivery are used to achieve other goals. A combination of several models of service delivery is consistent with the integrated and collaborative service-delivery models.

Integrated Model The Iowa State Department of Education63 defines the integrated model as one in which (1) the therapist interacts not only with the child but also with the teacher, aide, and family; (2) services are provided in the learning environment; and (3) several people are involved in implementation of the therapy program. Team collaboration is a key feature of the model. The integrated model frequently includes direct and consultative physical therapy services. Goals and objectives should be developed collaboratively, and all individuals serving the child should be instructed on how to incorporate objectives into the child’s education program. Direct services, if appropriate, are provided in the least restrictive environment. Only when it is in the best interests of the child should the intervention be provided in a restrictive environment, such as a special room, because skills learned in one setting do not necessarily generalize to other settings.22 Common examples of when therapy might be acceptable in a more restrictive environment are when the child is participating in academic courses, when extensive equipment is required, when the child is highly distractible, or when it is necessary for the child’s safety.

Consultative Model In the consultative model, the therapist interacts in the learning environment with appropriate members of the educational team, including the parents, who then implement the recommended activities. The physical therapist provides instruction and

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demonstration without direct intervention. Responsibility for the outcome lies with the individuals receiving the consultation. Consultation may be provided for a specific child, as outlined in Table 31.1, but it might also include programmatic consultation with the education staff involving issues related to safety, transportation, architectural barriers, equipment, documentation, continuing education, and improvement of program quality.82 Programmatic consultation should be the major activity of the therapist at the beginning of each academic year and may often be more important than child-specific goals and objectives. Once the environment is safe, the child is properly positioned throughout the day, and a safe means of mobility is determined, goals pertaining to skill development can be addressed.

Monitoring Model In the monitoring model, the physical therapist shares information and provides instruction to team members, maintains regular contact with the child to check on status, and assumes responsibility for the outcome of the intervention. Similar to the consultative model, the therapist does not intervene directly. Monitoring is important for follow-up of children who have participation restrictions, activity limitations, or impairments that might become more pronounced over time. It also allows the therapist to check adaptive equipment and assistive devices. Monitoring may be an important way to determine whether a child is progressing as necessary for transition to the next level of educational or vocational services. It is useful for transition from direct or integrated services to discontinuation of services, and it provides the family, child, and therapist a sense of security that the child is being observed. If the need for direct services is identified, services are initiated because physical therapy is already listed on the IEP.

Collaborative Model “School-based collaboration is an interactive team process that focuses student, family, education and related service partners on enhancing the academic achievement and functional performance of all students in school” (p 3).61 Emphasis is on team operations

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and management and ways to seamlessly interact with team members to select and blend services. Collaboration should be part of all service-delivery models, although not everyone would consider it a model of service delivery.61 However, because collaboration is frequently defined as a combination of transdisciplinary team interaction and an integrated servicedelivery model, it is discussed here as part of service delivery.122 As noted in Box 31.2 and Table 31.1, services in a collaborative model are provided by all team members, as in an integrated model, but the degree of role release and crossing of disciplinary boundaries is greater. The team assumes responsibility for developing a consensus on the goals and objectives, as well as on implementation of program activities, which are educationally relevant and are conducted in the natural routine of the school and community. Theoretically, in the collaborative model, the amount of time the child practices an activity should be greater than in other models, because the entire team participates in the program. In reality, this might not be the case, because of the varied ability levels of team members, insufficient natural opportunities to practice skills, competing priorities in the student’s schedule, and the student’s difficulty in performing some activities. Research by Hunt and associates66 suggests that for students with severe disabilities, collaborative teaming increases academic skills, engagement in classroom activities, interactions with peers, and student-initiated interactions. The researchers indicated that parents played a critical role in the development and implementation of the programs, and flexibility was essential to the practicality and applicability of suggestions. In the past, many believed that state physical therapy practice acts prohibited other school personnel from performing procedures that are within the scope of physical therapy practice. Generally, this is not the case as long as the individual does not represent himself or herself as a physical therapist, does not bill for physical therapy, and does not perform a physical therapy evaluation.120 In fact, a study by Rainforth120 indicates few limitations on the delegation of procedures by others, especially of the nature likely to occur in an educational environment. Team members do not actually perform physical therapy but rather carry out activities that

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are recommended to assist the child to learn and practice motor skills in multiple environments.89

Relational Goal-Oriented Model The relational goal-oriented model (RGM) of service delivery to children was developed by King78 and builds on the framework of the life needs model of pediatric service delivery.80 The life needs model addresses the “why” and “what” of service delivery, whereas the RGM focuses on the “how” of service delivery and incorporates relationship-based practice with goal orientation. The model consists of six elements: (1) overarching goals; (2) desired outcomes; (3) fundamental needs; (4) relational processes; (5) approaches, worldviews, and priorities; and (6) strategies. These elements are applied to client-practitioner and practitionerorganization relationships.

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Program Development Eligibility for Physical Therapy As noted previously, for school-age children, a motor delay or disability does not necessarily qualify a student for special education and related services. The child must have an educational need for special education. Once a child meets the criteria for special education, the related service needs are determined as “required to assist a child with a disability to benefit from special education” [PL 108-446, 118 Stat. 2657, § 602 (26)].112 The requirements of federal law, state, and local regulations may include additional elements related to eligibility. Many states have developed guidelines for school practice that can assist therapists in their decisions regarding both a student’s need for physical therapy and service delivery. Generally, these guidelines can be found on the website of the state’s Department of Education, the state’s Physical Therapy Association, or both. For example, the document developed in Maryland (Occupational and Physical Therapy Early Intervention and School-Based Services in Maryland: A Guide to Practice),85 published in December 2008, describes the process for determining the need for school-based occupational and physical therapy services as follows: Once the IEP team agrees on the present levels of the student’s performance and IEP goals/objectives, the team then determines whether the unique expertise of an OT or PT is required for the student to be able to access, participate, and progress in the learning environment in preparation for success in his/her postsecondary life. Based on the individual needs of the student, the PLs [present levels], goals and objectives, the IEP team with recommendations from the OT or PT team member(s) determines necessary related services.85 The Guidance of the Related Services of Occupational Therapy, Physical Therapy, and Speech/Language Therapy in Kentucky Public Schools reminds therapists to ask a fundamental question: “Is an occupational therapist’s, speech therapist’s, or physical therapist’s knowledge and expertise a necessary component of the student’s

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educational program in order for him/her to achieve identified outcomes?”77 Additional key questions regarding service determination listed in the Kentucky guidelines include the following: • Does the challenge significantly interfere with the student’s ability to participate in the general education curriculum and in preparation for employment and independent living? • Does the challenge in an identified area appear to be caused by limitations in a motor, sensory, or communication area? • Have the research-based instruction and intervention services successfully alleviated the concerns? • Can the educational team manage the student’s deficit areas without the expertise of an occupational, physical, or speechlanguage therapist? • Does the student show potential to steadily progress without services? • Can the student’s deficit areas be managed through classroom accommodations or modifications?77 If a child is not eligible for special education, he or she may be eligible for related services under Section 504 of the Rehabilitation Act.114 The need for related services must be based on the individual needs of the child. Some school districts have attempted to develop generalized exclusionary criteria such as performance discrepancy criteria, also called cognitive referencing. Performance discrepancy criteria limit services to children whose cognitive development is below their motor development.24 Aside from the legal119 and ethical questions, research does not support cognitive referencing.14,29

Evaluation Results of the evaluation are used to make decisions about the need for school-based physical therapy services, IEP goals, frequency and duration of services, and ESY services. The elements of patient/client management in the Guide to Physical Therapist Practice3 differ somewhat from those of federal education laws. In the school setting, evaluations are conducted to “assist in determining whether the child is a child with a disability” [PL 108-446, 118 Stat.

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27045, § 614(b)(2)]112; they are also used to determine the educational needs of the child. The process of evaluation, therefore, is comparable with examination and evaluation in the Guide. A comprehensive team evaluation should be conducted “at least every 3 years, unless the parent and the local educational agency agree that a re-evaluation is unnecessary” [PL 108-446, 118 Stat. 2704, § 614 (a)(2)].112 It may be performed no more often than once a year, unless both parent and educational agency agree to more frequent evaluations. Physical therapy evaluation may need to be done more frequently according to the requirements of individual state practice acts and best practice guidelines. All therapists should be familiar with their state’s requirements. Physical therapy evaluation in the educational environment should be consistent with the framework of the World Health Organization’s International Classification of Functioning, Disability and Health (ICF),145 as discussed throughout this text, and is consistent with the 2014 revision to the Guide.2 Evaluation should describe the student’s participation (engagement in life situations), activities (tasks), and body functions (physiology) and structures (anatomy), with consideration of personal and environmental factors. These elements are reported from the perspective of access, participation, and progress in the educational program. Although the emphasis is on enablement, rather than disablement, the evaluation should incorporate participation restrictions (with required adaptations and assistance), activity limitations, and impairments in body functions and structures.89 Evaluation should also make the distinction between capacity (what the student can do in controlled conditions) and performance (what the student actually does in the natural settings of daily life). Intervention strategies to reduce impairments of body functions and structures may be necessary to meet the student’s educational needs. Examination should also include a review of body systems from the perspective of school function: musculoskeletal, neuromuscular, cardiovascular/pulmonary, and integumentary.3 IDEA 2004 mandates that goals and interventions be based on academic demands and functional performance within the educational setting.112 However, many of the assessments currently used by occupational and physical therapists in school-based

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settings to create these goals and objectives focus on developmental skills as compared with those of same-age or same-grade peers.35 These developmental assessments provide little information about the student’s ability to participate in school-related tasks and reflect a conflict with the principles of IDEA 2004.35 In addition, these measures do not provide information about performance in context and therefore are not appropriate outcome measures. Based on a model of inclusion for students with disabilities, assessments used in the educational setting should instead focus on participation and functional performance. They should identify to what extent the student requires assistance from an individual, accommodations, or modification of the environment to participate in the educational process. Tests and measures should be technically sound and should be administered by trained and knowledgeable personnel, in accordance with instructions and in the child’s native language without racial or cultural bias [PL 108-446, 118 Stat. 2705, § 614(b) (3)].111 Selection of standardized tests should be based on professional judgment and dictated by the characteristics of the individual child. Therapists should collaborate with school personnel to identify appropriate tests and measures that gather relevant functional and developmental information. The child’s abilities should be assessed in the natural environment when possible: in the classroom, hallway, playground, stairs, and other school settings. The School Function Assessment (SFA), developed by Coster and coworkers,30 is a standardized measure of participation in all aspects of the educational program for students in kindergarten through sixth grade. Findings may be used to identify IEP goals and develop the intervention plan, including the frequency and duration of services. The SFA measures skills that promote participation in the natural environmental settings of regular or special education, addressing both individual and contextual factors. It is a judgment-based, criterion-referenced measure that is both discriminative (identifies functional limitations) and evaluative (measures change over time). It assesses the student’s levels of activity, required support, and performance in daily school routines; by contrast, other standardized assessments measure the

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student’s capacity (optimal abilities under controlled conditions). Function is defined by the outcome of performance, not by the methods used; for example, travel over a designated distance is assessed by consistency of performance and level of assistance required, not by whether the student walks or uses a wheelchair, though those parameters are listed as well. The SFA comprises three major categories of student performance—participation, task supports, and activity performance—and includes 21 domains (12 physical tasks and 9 cognitive/behavioral tasks), with the required level of assistance and adaptations. Criterion cutoff scores are provided for children in grades K through 3 and grades 4 through 6, as are item maps that provide a visual (graphic) representation of scores. All members of the school team who are familiar with the student’s levels of activity and performance in school-related tasks and environments can complete the SFA. It has high internal consistency (ranging from .92 to .98) and high test-retest reliability (Pearson r ranging from .80 to .99, and intraclass coefficients [ICC] ranging from .80 to .99); it is a valid instrument for use in school settings.67 For the student presented in the case scenario for this chapter, the five mobility domains of the SFA were completed collaboratively by the school physical therapist and the classroom teacher, both of whom are well acquainted with the student and her levels of performance. That process took about 20 minutes. Although the test is intended to be conducted in its entirety by staff members representing several disciplines, other staff members chose not to do so; it is not uncommon for some to be reluctant to participate in the full assessment, claiming that it is too time consuming. Perhaps, in time, the school physical therapist may be successful in persuading other members of the team to appreciate the value of information derived through the SFA. The Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT) is described in the discussion of measurement in Chapter 2. The School Outcomes Measure (SOM) is another assessment developed specifically for the education setting.11 The SOM is a minimal data set designed to measure outcomes of students who receive school-based occupational therapy and physical therapy. The SOM includes 30 functional status items that cover five general

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student ability areas traditionally addressed in school-based practice: self-care, mobility, assuming a student’s role, expressing learning, and behavior. Data are recorded on student and therapist demographics, as are details on information from the student’s IEP, therapy services provided, and therapeutic procedures used.11 The SOM focuses on the measure of student functional status to enhance participation in the natural environments of school, home, and community. It allows teachers, parents, and others with knowledge of the student to provide information for any areas for which the therapist is not certain of the student’s abilities. Research supports the content validity, interrater reliability,90 and test-retest reliability of the SOM for students who receive occupational and physical therapy.11 The minimal data set was more responsive to children with mild/moderate functional limitations but less responsive to changes in children with severe disabilities.12 Arnold and McEwen11 reported that use of the SOM is suitable on an annual basis to evaluate outcomes for students, in conjunction with IEP goals, and that it is appropriate for use in outcomes research. The SOM provides several advantages to the school-based therapist. The measure takes about 10 to 15 minutes to administer once a therapist is familiar with the student; this is clearly an asset for therapists attempting to balance caseload and essential evaluation/outcome data. Another asset is that the SOM requires no manipulatives or supplies. The Pediatric Evaluation of Disability Inventory (PEDI)59 is a judgment-based, criterion-referenced measure that preceded the SFA. It has been expanded to include children up to 20 years of age and is now a computer adaptive test (PEDI-CAT).58 With the expanded age range, ease, and brevity of administration, the PEDICAT should be considered for use in the school setting. It provides a global assessment of daily activities, mobility, social/cognitive function, and responsibility. Wilson and colleagues143 found fairly consistent concurrent validity between the SOM and the PEDI, indicating that motor performance was consistent across home and school environments. Other standardized tests and measures, as discussed throughout this text, may assist in determining the level of a child’s physical functioning and assist in documenting student

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