Child and Adolescent Neurology: Blackwell's Neurology and Psychiatry Access Series (Access)

BLACKWELL’S NEUROLOGY AND PSYCHIATRY ACCESS SERIES

Child and Adolescent Neurology SECOND EDITION

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Other books in Blackwell’s Neurology and Psychiatry Access Series Sexson: Child and Adolescent Psychiatry, 2nd Edition Corey-Bloom: Adult Neurology, 2nd Edition Rubin & Zorumski: Adult Psychiatry, 2nd Edition

To all the children. To my own children and grandchildren, but especially to those children everywhere whose lives have been touched by adversity.

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B L A C K W E L L’ S N E U R O L O G Y A N D P S Y C H I AT RY A C C E S S S E R I E S

Child and Adolescent Neurology SECOND EDITION EDITED BY

Ronald B. David, MD, FAAP, FAAN Richmond Virginia

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© 2005 by Blackwell Publishing Ltd Blackwell Publishing, Inc., 350 Main Street, Malden, Massachusetts 02148–5020, USA Blackwell Publishing Ltd, 9600 Garsington Road, Oxford OX4 2DQ, UK Blackwell Publishing Asia Pty Ltd, 550 Swanston Street, Carlton, Victoria 3053, Australia The right of the Authors to be identified as the Authors of this Work has been asserted in accordance with the Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. First published 1998 Second Edition 2005 Library of Congress Cataloging-in-Publication Data Child and adolescent neurology / edited by Ronald B. David.-- 2nd ed. p. ; cm. -- (Blackwell’s neurology and psychiatry access series) Includes bibliographical references and index. ISBN-13: 978-1-4051-1767-8 ISBN-10: 1-4051-1767-2 1. Pediatric neurology. [DNLM: 1. Nervous System Diseases--diagnosis--Adolescent. 2. Nervous System Diseases--diagnosis--Child. 3. Diagnostic Techniques, Neurological--Adolescent. 4. Diagnostic Techniques, Neurological--Child. 5. Nervous System Diseases--therapy-Adolescent. 6. Nervous System Diseases--therapy--Child. 7. Neurologic Examination-Adolescent. 8. Neurologic Examination--Child. WS 340 C5352 2005] I. David, Ronald B. II. Series. RJ486.5.C45 2005 618.92’8--dc22 2005017015 ISBN-13: 978–1–405–117678 ISBN-10: 1–4051–1767–2 A catalogue record for this title is available from the British Library Set in 9.25/12pt Palatino by Sparks, Oxford – www.sparks.co.uk Printed and bound in India by Replika Press PVT Ltd, Harayana Commissioning Editor: Stuart Taylor Development Editor: Nick Morgan Project Manager: Kate Bailey Production Controller: Kate Charman For further information on Blackwell Publishing, visit our website: http://www.blackwellpublishing.com The publisher’s policy is to use permanent paper from mills that operate a sustainable forestry policy, and which has been manufactured from pulp processed using acid-free and elementary chlorine-free practices. Furthermore, the publisher ensures that the text paper and cover board used have met acceptable environmental accreditation standards.

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Contents

Contributors, vii Preface, xi

Section 1: Pediatric Neurologic Evaluation Editor: John B. Bodensteiner, MD

7 Traumatic Encephalopathies, 147 H. Terry Hutchison, MD, PhD and Paul C. Lebby, PhD 8 The Epilepsies, 172 Carl E. Stafstrom, MD, PhD 9 Movement Disorders in Childhood, 223 Kenneth J. Mack, MD, PhD and Steven M. Shapiro, MD

1 Neurologic History, 3 Ronald B. David, MD and John B. Bodensteiner, MD

10 Infections of the Central Nervous System, 247 William E. Bell, MD and Frederick W. Henderson, MD

2 The Neurologic Examination of the Preterm and Fullterm Neonate and of the Infant, 14 Patricia H. Ellison, MD and Donna K. Daily, MD

11 Vascular Disease, 274 Richard H. Haas, MB, BChir

3 The Neurologic Examination of the Young Child, 53 Ruth D. Nass, MD

12 Inborn Errors of Metabolism I: Neurologic Degenerative Diseases, 303 Paul Maertens, MD

4 The Neurologic Examination of the School-Age and Adolescent Child, 68 Ruthmary K Deuel, MD and Amy C Rauchway, DO

13 Inborn Errors of Metabolism II: Disorders of Purine and Amino Acid Metabolism, 371 William L. Nyhan, MD, PhD

5 Neurodiagnostic Laboratory Procedures, 82

14 Neoplastic Diseases, 389 Roger J. Packer, MD, Tobey J. MacDonald, MD, Brian R. Rood, MD, Kristen Forbes, MD and Robert A. Keating, MD

The Electroencephalogram, 82 Warren T. Blume, MD, CM, FRCP(C) Electrodiagnostic Evaluation of Pediatric Neuromuscular Disease, 99 Laurie Gutmann, MD and Jack E. Riggs, MD Clinical Evaluation with Evoked Response Modalities, 105 John F. Kerrigan, MD Neuroimaging Techniques, 120 Gary Hedlund, DO and James F. Bale Jr, MD

Section 2: General Pediatric Neurologic Diseases and Disorders Editor: David E. Mandelbaum, MD, PhD 6 Toxic and Metabolic Encephalopathies, 139 Doris A. Trauner, MD

15 Neuromuscular Disease in Children, 415 John T. Sladky, MD 16 Order and Disorders of Nervous System Development: Cellular and Molecular Mechanisms, 431 Order of Nervous System Development, 431 Emanuel DiCicco-Bloom, MD Disorders of Nervous System Development, 443 John N. Gaitanis, MD and David E. Mandelbaum, MD, PhD 17 Disorders of Motor Execution I: Cerebral Palsy, 461 Barry S. Russman, MD 18 Disorders of Motor Execution II: Higher-order Motor Deficits, 478 Ruthmary K. Deuel, MD and Amy C. Rauchway, DO v

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vi

Contents

19 Disorders of Cognitive Function in the Preschooler, 486 Ruth Nass, MD and Gail Ross, PhD

23 Febrile Seizures, 549 Deborah G. Hirtz, MD and Karin B. Nelson, MD

20 Learning Disabilities, 511 Max Wiznitzer, MD and Debora L. Scheffel, PhD

24 The Child with Attention Deficit Hyperactivity Disorder, 558 Russell A. Barkley, PhD and Michelle M. Macias, MD

Section 3: Common Pediatric Neurologic Problems

25 Sleep Disorders, 574 O’Neill F. D’Cruz, MD and Bradley V. Vaughn, MD

Editor: Barbara Olson, MD 21 Coma and Other States of Altered Awareness in Children, 527 Stavros M. Hadjiloizou, MD and James J. Riviello Jr, MD

Appendix: A Proposed Approach to Nosology, 583 Bibliography, 591 Index, 639

22 Headaches, 540 Andrew D. Hershey, MD, PhD

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Contributors James F. Bale Jr, MD

Ronald B. David, MD, FAAP, FAAN

Division of Pediatric Neurology Suite 2700 Primary Children’s Medical Center 100 N. Medical Drive Salt Lake City UT 84113, USA

Associate Clinical Professor of Pediatrics Virginia Commonwealth University School of Medicine Saint Mary’s Hospital Bon Secours Health System Richmond Virginia VA, USA

Russell A. Barkley, PhD Department of Health Professions Medical University of South Carolina 19 Hagood Avenue Suite 910 Charleston SC 29425, USA

O’Neill F. D’Cruz, MD Department of Neurology 751 Clinical Science Building University of South Carolina SC, USA

Warren T. Blume, MD, CM, FRCP(C)

Ruthmary K. Deuel, MD

Professor of Neurology and Paediatrics University Hospital University of Western Ontario London Ontario N6A 5A5, Canada

St. Louis University Hospital Neurology 5th FI 3635 Vista Ave at Grand Blvd St. Louis MO 63110-0250, USA

William E. Bell, MD

Emanuel DiCicco-Bloom, MD

Chapel Hill School of Medicine University of North Carolina Chapel Hill NC 27514, USA

Professor of Neuroscience and Cell Biology/Pediatrics Robert Wood Johnson Medical School 675 Hoes Lane, RWJSPH Room 362 Piscataway NJ 08854, USA

John B. Bodensteiner, MD Professor of Clinical Pediatrics and Neurology University of Arizona Chief Pediatric Neurology Barrow Neurological Institute St. Joseph’s Children’s Health Center 500 W. Thomas Road Suite 930 Phoenix AZ 85013, USA

Donna K. Daily, MD Department of Pediatrics Vanderbilt University Vanderbilt Children’s Hospital Nashville TN, USA

Patricia H. Ellison, MD Department of Pediatrics Adjunct Professor, Retired University of Colorado School of Medicine Denver CO, USA

Kristen Forbes, MD Consultant Neuroradiologist Institute of Neurological Sciences Southern General Hospital 1345 Govan Road Glasgow G51 4TF, UK

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viii

Contributors

John N. Gaitanis, MD

Deborah G. Hirtz, MD

Assistant Professor of Clinical Neurosciences and Pediatrics Brown Medical School 110 Lockwood Street Providence RI 02903, USA

Programme Director NINDS 6001 Executive Boulevard Room 2212 Rockville MD 20892, USA

Laurie Gutmann, MD

H. Terry Hutchinson, MD, PhD

Associate Professor of Neurology and Exercise Physiology West Virginia University School of Medicine Morgantown WV 26506–9180, USA

Associate Clinical Professor of Pediatrics and Neurology University of California San Francisco CA, USA Department of Neurology Children’s Hospital Central California 9300 Valley Children’s Place Madera CA 93638, USA

Richard H. Haas, MB, BChir UCSD Medical Center Pediatric Neurology 9500 Gilman Drive 0935 La Jolla CA 92093–0935, USA

Stavros M. Hadjiloizou, MD Staff Neurologist Children’s Hospital Boston Instructor in Neurology Harvard Medical School Boston MA 02115, USA

Gary L. Hedlund, DO Pediatric Neuroradiologist Department of Medical Imaging Primary Children’s Medical Center 100 N. Medical Drive Salt Lake City UT 84113, USA

Robert A. Keating, MD Associate Professor of Neurosurgery and Pediatrics Division of Pediatric Neurosurgery Children’s National Medical Center 111 Michigan Avenue NW Washington DC 20010, USA

John F. Kerrigan, MD Director Pediatric Epilepsy Program Division of Pediatric Neurology Barrow Neurological Institute St Joseph’s Hospital and Medical Center 500 West Thomas Road Suite 930 Phoenix, AZ 85013, USA

Frederick W. Henderson, MD Department of Pediatrics Chapel Hill School of Medicine University of North Carolina 5132 Bioinformatics Building Campus Box 7220 Chapel Hill NC 27599, USA

Andrew D. Hershey, MD, PhD Associate Professor of Pediatrics and Neurology University of Cincinnati Director, Headache Center Children’s Hospital Medical Center 3333 Burnet Ave Cincinnati OH 45229, USA

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Paul C. Lebby, PhD Assistant Professor of Pediatrics and Neurology University of California San Francisco CA, USA Department of Neuropsychology Children’s Hospital Central California 9300 Valley Children’s Place Madera CA 93638, USA

Tobey J. MacDonald, MD Clinical Director Neuro-Oncology Department of Hematology/Oncology Children’s National Medical Center 111 Michigan Avenue NW Washington DC 20010, USA

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Contributors

Michelle M. Macias, MD

Barbara Olson, MD

Associate Professor of Pediatrics Medical Director Developmental-Behavioral Pediatrics Medical University of South Carolina 135 Routledge Avenue Charleston SC 29425, USA

Centennial Medical Center Suite 216, 2400 Patterson Street Nashville TN 37203, USA

Kenneth J. Mack, MD, PhD Consultant in Child and Adolescent Neurology Mayo Clinic 200 First Street SW Rochester MN 55902, USA

Paul Maertens, MD Univerity South Alabama Medical Center Neurology 2451 Fillingim Street Mobile AL 36617, USA

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Roger J. Packer, MD Executive Director Center for Neuroscience and Behavioural Medicine Chairman, Department of Neurology Children’s National Medical Center 111 Michigan Avenue NW Washington DC 20010, USA

Amy C. Rauchway, DO Resident Physician Department of Neurology St Louis University 3635 Vista Avenue St Louis MO 63110, USA

Jack E. Riggs, MD David E. Mandelbaum, MD, PhD Professor of Clinical Neurosciences and Pediatrics Brown University Providence RI, USA Director, Division of Child Neurology Rhode Island and Hasbro Children’s Hospitals Providence RI, USA

Ruth D. Nass, MD Professor of Clinical Neurology NYU School of Medicine NYU Medical Center Department of Neurology 400 East 34th Street RR 311 New York NY 10016, USA

Karin B. Nelson, MD Neuroepidemiolgy Branch NINDS Building 10, Room 5S221 10 Center Drive MSC 1447 Bethesda MD 20892–1447, USA

William L. Nyhan, MD, PhD UCSD Pediatrics 9500 Gilman Drive (0830) La Jolla CA 92093–0830, USA

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Professor of Neurology Department of Neurology West Virginia University Morgantown WV 26506–9180, USA

James J. Riviello, Jr, MD Director Epilepsy Program Children’s Hospital Boston MA, USA Professor Harvard Medical School Boston MA 02115, USA

Brian R. Rood, MD Assistant Professor of Pediatrics Department of Hematology/Oncology Children’s National Medical Center 111 Michigan Avenue NW Washington DC 20010, USA

Gail Ross, PhD Associate Professor of Psychology in Pediatrics and Psychiatry New York Presbyterian Hospital 525 East 68th Street New York NY 10021, USA

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Contributors

Barry S. Russman, MD

Carl E. Stafstrom, MD, PhD

Doernbecher Children’s Hospital OHSU 707 SW Gaines Road CDRC-P Portland OR 97201, USA

Professor of Neurology and Pediatrics Department of Neurology University of Wisconsin 600 Highland Avenue Madison WI 53792, USA

Debora L. Scheffel, PhD Director of University Assessment Professor Exceptionalities, Bilingual and ESL Education College of Education and Behavioral Sciences University of North Colorado 501 20th Street Greeley CO 80639, USA

Doris A. Trauner, MD UCSD Medical Center Pediatric Neurology 9500 Gilman Drive Mail Code 0935 La Jolla CA 92093–0935, USA

Steven M. Shapiro, MD

Bradley V. Vaughn, MD

A/D Building Room 509 1200 East Broad Street PO Box 980599 Richmond VA 23298–0599, USA

Associate Professor Neurology University of North Carolina at Chapel Hill Chapel Hill NC 27599, USA

John T. Sladky, MD

Max Wiznitzer, MD

Professor of Pediatrics and Neurology Emory University School of Medicine Chief of Neurology Emory Children’s Center 2040 Ridgewood Drive Atlanta GA, USA

Rainbow Babies and Children’s Hospital Division of Neurology 11100 Euclid Avenue Cleveland OH 44106, USA

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Preface

Traditional textbooks convey knowledge. It is the goal of this text in the Blackwell’s Neurology & Psychiatry Access Series to convey not only essential knowledge but also the collected wisdom of its many highly regarded contributors. To achieve the goal of conveying not only knowledge but wisdom, each book in this series is built on a structural framework that was well received by critics and readers alike in David: Pediatric Neurology for the Clinician and the first editions of Child and Adolescent Neurology, Adult Neurology, Child and Adolescent Psychiatry and Adult Psychiatry (Mosby). Each volume is divided into three sections: • Tools for diagnosis • Diseases and disorders • Common problems Also included to facilitate a physician’s use of this book are: • Nosologic diagnosis tables • “Pearls and Perils” boxes • “Consider Consultation When…” boxes • Selected annotated bibliographies • A complete bibliography and (new in this edition) • Key Clinical Questions The Nosologic Diagnosis tables are based on a discriminator model to promote clearer understanding and are superior to a criterion-based model and others that lack similar specificity. (See the Appendix for complete description of how this system was developed.) Whoever having undertaken to speak or write hath first laid for themselves some [basis] to their argument such as hot or cold or moist or dry or whatever else they choose, thus reducing their subject within a narrow compass. Hippocrates As Hippocrates has suggested, structure is the key to learning. Unless there is a structure onto which knowledge can be built, confusion and disorganization are the inevitable consequences. Classification systems induce orderliness in thinking and enhance our ability to communicate effectively. A review of the most enduring hierarchical classification systems, particularly that of Linnaeus (that is, phyla, genera, species),

makes clear the value of grouping according to discriminating features, as well as the value of simplicity, expandability, and dynamism. The goal, whatever the classification system, is to seek the most powerful discriminating features that will produce the greatest diagnostic clarity. Discriminating features should avoid crossing domains. Much of the confusion that arises in diagnosis may be the result of the clinician who unwittingly crosses the anatomic, pathologic, pathophysiologic, phenomenologic, and etiologic classification domains used in medicine (for example, the inclusion of anatomically-oriented “temporal lobe seizures” in a phenomenologically based classification system that includes complex partial seizures). Some conditions, such as brain tumors, are classified according to their histopathology and lend themselves well to this classification system. Others, such as headaches and movement disorders, are classified phenomenologically and are therefore much less easily classified. In other cases, discriminators must encompass inclusionary as well as exclusionary features. At times, we can only use a criterion-based system or construct tables to compare features. Arbitrarily, we label as consistent features those which occur more than 75% of the time; features are considered variable when they occur less than 75% of the time. The diagnostic tables should be viewed, therefore, only as a beginning in the extremely difficult effort to make diagnosis more precise and biologically based. How well this book accomplishes the goals of identifying the most powerful discrimination features for maximum diagnostic clarity is limited by the current state of the art in child and adolescent neurology. In some areas, several features, when clustered together, serve to discriminate. This text is designed to be pithy, not exhaustive, as there are already many available of this ilk. Each text in this series reflects appropriate stylistic differences among content editors. However, each is built upon the same structural framework, hence the value of this text to the users. Chapter 16 on “Order and Disorders of Nervous System Development” is particularly noteworthy because of its unique treatment of this very important and timely subject matter. As a part of this preface, I would like to acknowledge some of the people who have made key contributions to this effort. They include: Craig Percy, who initially saw the potential of

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Preface

this effort; the National Institute of Neurological Disorders and Stroke (NINDS)* for its support in nosologic research; and the investigators who were involved with this NINDS project; Dr Grover Robinson, a long-time friend (who suggested the “Consider Consultation When…” boxes); Ms Laura DeYoung, Mr Stuart Taylor and all the Blackwell team who made this vision a reality. I am also particularly grateful to my associate editor colleagues, Drs John Bodensteiner, David Mandelbaum, and Barbara Olson, for their most significant contribution. Their help is reflected, I feel,

in the extraordinary quality of the present effort. Lastly, I would like to thank Merle Colglazer and C.L Womack for their invaluable editorial assistance and Dr Mary Dominski for her careful review of the manuscripts for clarity and consistency. This text is therefore in no way a singular effort and reflects the expertise of all who contributed in so many different ways and it is my hope that this is reflected in the quality of the effort. It is therefore my fondest wish that this text reside on your desk, rather than your bookshelf. Ronald B. David, MD

*NINDS 1PO1NS20189–01A1 (Nosology, Higher Cortical Function Disorders in Children)

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SECTION 1

Pediatric Neurologic Evaluation John B. Bodensteiner, MD

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CHAPTER 1

Neurologic History Ronald B. David, MD and John B. Bodensteiner, MD OUTLINE

Demographic data Medical information/history Treatment information/history

Pregnancy, birth, and development information/history Attention/activity/behavior/habits Skills and abilities

Some clinicians have suggested that the taking of the neurologic history is as important as, or potentially more important than, the neurologic examination itself. Other clinicians have suggested that the neurologic history identifies the nature of the disorder or disease and the neurologic examination pinpoints its location. The history itself may be a narrative recapitulation of information provided by a child’s primary caregiver(s), or it may be generated in response to a questionnaire or checklist. Experienced clinicians realize that the key to making a successful diagnosis often lies in asking the right questions and listening carefully to the answers. Responses to questionnaires or checklists can be used as part of a formal structured interview. Diagnostically they can be both reliable and valid. For example, a patient may be asked the following questions with respect to headaches:

(1) Are your headaches confined to one side of your head? (2) Are your headaches associated with vomiting or a desire to sleep? (3) Do you have visual symptoms, such as dancing lights or other phenomena? An affirmative response to all three questions would permit accuracy of close to 100% for the diagnosis of migraine. No other questions or laboratory investigations may be necessary. Other questions provide clinical rather than diagnostic information, useful in practicing the art as well as the science of medicine. The questions that follow are those used by many clinicians to accomplish this end. Some are also valuable in answering research questions. They are all designed to be useful in the practice of pediatric neurology. Note: This form may be reproduced for clinical use without further permission from the author or publisher.

A. Demographic data 1 2 3 4

5

6 7 8

Name _______________________________________________________________________________________________________ Child’s date of birth ______ ______ / ____ ______ / ______ ______ Child’s age ______ ______ / ______ ______ Child’s sex a Male _______ b Female _______ Child’s race a Caucasian _______ b African American _______ c Latino _______ d Asian _______ e Other Birthplace ___________________________________________________________________________________________________ Name of hospital _____________________________________________________________________________________________ Child’s siblings (please list oldest first) Age

Sex

Relation to this child

Initials Years Months M F Full Half Adopted Step ______________________________________________________________________________________________________________ ______________________________________________________________________________________________________________ ______________________________________________________________________________________________________________ ______________________________________________________________________________________________________________ ______________________________________________________________________________________________________________ 3

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Pediatric Neurologic Evaluation

9 Marital status of parents a Married b Single c Separated d Divorced 10 Relationship of caregiver to child a Natural parent b Adoptive parent c Stepparent d Foster parent e Grandparent f Aunt or uncle g Brother or sister h Other 11 Parents’ educational experience a Eighth grade or less b Attended high school c High school graduate d Attended college e Two-year degree f Four-year degree g Master’s degree h Doctorate 12 Handedness of parents

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ Father ________ ________ ________ ________ ________ ________ ________ ________

Mother _______ _______ _______ _______ _______ _______ _______ _______

Father Mother a Right ________ _______ b Left ________ _______ c Ambidextrous ________ _______ 13 Please check if the parent was or is considered to have difficulty with any of the following: Father Mother a Speech ________ _______ b Confusion of left and right hands ________ _______ c Overactivity, restlessness, hyperactivity ________ _______ d Being clumsy or awkward ________ _______ e Walking ________ _______ f Math ________ _______ g Spelling ________ _______ h Reading ________ _______ i Delayed or unintelligible language ________ _______ j Seizures or convulsions ________ _______ k Nerves or nervous breakdown ________ _______ l Mental retardation ________ _______

B. Medical information/history 1 Please check if your child has ever experienced any of the following a More than two episodes of otitis media b Tubes in ears (myringotomy) c Visual difficulty requiring either glasses or visual training d Hearing difficulty requiring the use of a hearing aid e Movement problems requiring the use of special shoes, splints, braces, or a wheelchair or a specialized program of motor training

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Yes _______ _______ _______ _______

No _______ _______ _______ _______

_______

_______

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Neurologic History

Failure to thrive Poisoning or drug overdose Eating unusual substances (e.g. paint, plaster) Unconscious spells, fainting Convulsions, seizures, epilepsy Bedwetting beyond the age of 5 years Soiling beyond the age of 3 years Sleeping problems Poor growth or poor weight gain Unusual reactions to baby shots Toe walking Ran or walked more awkwardly than other children Ran or walked more slowly than other children Picked last or close to last in games where children pick sides Tics or unusual movements Headaches not relieved by nonprescription pain medicine Headaches not relieved by prescription pain medicine Headaches occurring in the middle of the night or upon awakening x Production of unusual odors y Unusual habits z Difficulty swallowing aa Excessive drooling bb Poor sucking or feeding as an infant cc Lost once-attained skills (speech, language, or motor) dd Seemed to be in a world of his own ee Had difficulty with taking turns ff Became upset if lined-up toys were disturbed 2 Has your child ever been diagnosed as a Hyperactive (hyperkinetic) b Brain damaged c Retarded d Developmentally delayed or disabled e Having epileptic seizures (including febrile) f Motor delayed g Cerebral palsied h Language delayed i Immature j Hearing impaired or deaf k Blind or partially sighted l Emotionally disturbed m Hypotonic n Spastic o Attention deficit disordered p Learning disabled q Autistic or demonstrating autistic-like behavior 3 Has your child ever a Had a special diet b Received speech therapy c Attended a preschool special education program d Received counseling (family or individual) e Received special education services, grades K through 12 f Been hospitalized g Been suspended or discharged from day care, kindergarten or school f g h i j k l m n o p q r s t u v w

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Yes _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

No _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______

5

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6

Pediatric Neurologic Evaluation

C Treatment information 1 Has your child ever been evaluated by a Yes No a (1) Neurologist (child or general) _______ _______ (2) Pediatrician _______ _______ (3) Family doctor _______ _______ (4) Psychiatrist _______ _______ (5) Physiatrist (physical medicine or rehabilitation specialist) _______ _______ b School psychologist _______ _______ c Teacher _______ _______ d Special education placement committee _______ _______ e Child development specialist _______ _______ f Physical or occupational therapist _______ _______ g Speech/language pathologist _______ _______ 2 Has your child ever taken a Phenobarbital _______ _______ b Dilantin (phenytoin) _______ _______ c Mysoline (primidone) _______ _______ d Depakene, Depakote (valproic acid) _______ _______ e Tegretol (carbamazepine) _______ _______ f Zarontin (ethosuximide) _______ _______ g Valium (diazepam) _______ _______ h Haldol (haloperidol) _______ _______ i Klonopin or Clonopin (clonazepam) _______ _______ j Neurontin (gabapentin) _______ _______ k Felbatol (felbamate) _______ _______ l Lamictal (lamotrigene) _______ _______ m Trileptal (oxcarbazepine) _______ _______ n Zonegran (zonisamide) _______ _______ o Keppra (levetiracetam) _______ _______ p Topamax (toparamate) _______ _______ q Gabitril (tiagabine) _______ _______ r Carbitrol (carbamazepine) _______ _______ s Ativan (lorazepam) _______ _______ t Mellaril (thioridazine) _______ _______ u Dexedrine (dextroamphetamine) or Adderall (mixed amphetamine salts) _______ _______ v Ritalin (methylphenidate) _______ _______ w Cylert (pemoline) _______ _______ x Asthma medication(s) _______ _______ y Antihistamine(s) _______ _______ z Decongestants _______ _______ i Prozac _______ _______ ii Zoloft _______ _______ iii Paxil _______ _______ iv Lexapro _______ _______ v Celexia _______ _______ vi Wellbutrin _______ _______ vii Effexor _______ _______ viii Abilify _______ _______ ix Geodon _______ _______ x Risperdal _______ _______ xi Seroquel _______ _______ xii Herbs and complementary medicine _______ _______ xiii Zyprexia _______ _______ 3 Has your child ever had any unusual reaction to any of the medications listed above? Please list and describe reaction _______________________________________________________________________________________________________________ _______________________________________________________________________________________________________________ _______________________________________________________________________________________________________________

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Neurologic History

7

4 Describe each of your child’s emergency room visits or hospitalizations. Begin with the most recent Age (Years/Months) Reason _______ _______ / ________ _______________________________________________________________________________ _______ _______ / ________ _______________________________________________________________________________ _______ _______ / ________ _______________________________________________________________________________ _______ _______ / ________ _______________________________________________________________________________

D Pregnancy, birth, and development information/history 1 How many pregnancies did child’s mother have? 2 Did you (she) have any a Miscarriages b Abortions c Tubal pregnancies d Stillbirths 3 Were any medicines prescribed during your (her) pregnancy with this child, such as a Pills for nausea b Antibiotics c Water pills d Pain pills e Thyroid medicine f Medicine to prevent miscarriage g Medicine to suppress appetite h Sedatives i Tranquilizers j Sleeping pills k Blood pressure pills l Other (name if known 4 Were any of the following used during this child’s pregnancy? a Cigarettes b Alcohol (beer, wine, or hard liquor) c Coffee d Medicine that you bought at the drug store 5 Did you (she) have any of the following complications during this pregnancy? a Significant abdominal injury b Any illness with fever and rashes c Diabetes d Operation e Emotional upset f Morning sickness (1) Requiring special attention (2) Requiring hospitalization g Rh incompatibility h Bleeding from the vagina i Staining j Anemia k Swollen ankles l Heart disease m Toxemia, eclampsia, preeclampsia n High blood pressure o Kidney disease p German measles 6 How much weight was gained during pregnancy? 7 How long was the total period of labor? 8 How long was the period of hard labor? 9 How long was it from the time your (her) water broke until the baby was delivered? 10 During this pregnancy a Were you confined to bed for more than 1 day? b Was an ultrasound performed?

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)

Yes _______ _______ _______ _______

No _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ ____________ ib ____________ h ____________ h ____________ h Yes No _______ _______ _______ _______

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Pediatric Neurologic Evaluation

8

Were there any abnormalities in the ultrasound? Were your baby’s movements before birth (1) Normal (2) Increased (3) Decreased e Was amniocentesis performed? f If so, were there any abnormalities in the amniocentesis? Was the baby considered premature? Was your baby overdue by more than 2 weeks? Was there internal manipulation of your baby? Was a Caesarean birth performed? a If performed, was it an emergency? b Was a general anesthetic used? Was the baby head first? Were forceps used? Did the baby have any bruises? Did the baby have any birthmarks? Did the baby have breathing problems? Was the cord wrapped around the baby’s neck? If so, was the cord wrapped more than once around your baby’s neck or was there a true knot in the cord? Did your baby cry quickly? Was your baby’s color normal? Was your baby blue? Was your baby yellow (jaundiced)? Did your baby require transfusions? Did your baby require phototherapy (lights)? Was your baby placed in an isolette, incubator, or intensive special care unit? Did your baby have seizures or convulsions? Did your baby require oxygen? Was your baby placed on a respirator (breathing machine)? Were there concerns about your baby’s heart rate? Was the fluid stained with your baby’s meconium (bowel movement)? Were there other complications? List if known ______________________________________________________________ Did your baby have physical features which were unusual or very much unlike baby’s relatives? Do you remember your baby’s Apgar score? a Apgar score of 1 minute ______ b Apgar score of 3 minutes ______ c Apgar score of 5 minutes ______ How long after birth did you take your baby home? days During the first 2 weeks after the birth of your baby a Was your baby considered to be limp? b Was your baby considered to be stiff? c Did your baby have feeding or sucking problems? During the first year of life, did your baby a Have difficulty sleeping? b Fail to grow or gain weight? c Show any unusual trembling or unusual movements of arms, legs, or head? How old was your baby (your best guess) when he or she first < 6 mo 6-12 mo 12-18 mo 18-24 mo 24-36 mo a Sat alone ________ ________ ________ ________ ________ b Crawled ________ ________ ________ ________ ________ c Stood alone ________ ________ ________ ________ ________ d Walked with assistance ________ ________ ________ ________ ________ e Walked without assistance ________ ________ ________ ________ ________ f Showed hand preference ________ ________ ________ ________ ________ c d

11 12 13 14

15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36

37 38

39

40

1405117672_4_001.indd 8

Yes _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

No _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______

_______

_______ _______ _______

_______ _______ _______

_______ _______ _______

_______ _______ _______

36-48 mo _______ _______ _______ _______ _______ _______

48+ mo ________ ________ ________ ________ ________ ________

26/07/2005 15:02:43

Neurologic History

g h i j k

Was toilet trained–bowel Was toilet trained–urine Began to vocalize (babble) Began to use words Began to talk in sentences

41 Which hand does your child prefer? 42 Does your child

< 6 mo 6-12 mo ________ ________ ________ ________ ________ ________ ________ ________ ________ ________

12-18 mo ________ ________ ________ ________ ________

18-24 mo ________ ________ ________ ________ ________

24-26 mo 36-48 mo ________ _______ ________ _______ ________ _______ ________ _______ ________ _______ Left Right ________ ______

a Cry excessively? b Rarely or never attempt to communicate? c Use mainly gestures to communicate? d Have a hearing problem? e Turn head to distinguish from where a sound is coming? 43 General language skills: Does your child a Have difficulty learning new vocabulary words? b Omit words from sentences (i.e. do his sentences sound telegraphic)? c Speak in short, incomplete sentences? d Have trouble with verbs, such as is, am, was, and were? e Have difficulty following directions? f Have difficulty understanding long sentences? g Have difficulty responding appropriately to questions? h Have problems asking questions beginning with who, what, where, and why? i Have trouble using present and past tense verbs correctly? j Show little or no progress in speech and language in the last 6 to 12 months? k Omit sounds from words? l Do you feel your child’s speech is more difficult to understand than it should be in view of his or her age? m Does it seem that your child uses t, d, k or g in place of most other consonants when speaking? 44 Receptive language skills: Does your child a Understand “where is mother?” b Point to one body part on request? c Follow two-step commands two times out of three? d Know six body parts? e Understand the concept of “one”? f Point to spoon and ball and show how a cup is used? g Recognize day and night? h Know three out of four prepositions (on, under, in front, behind, etc.)? i Understand the concept of “three”? j Identify right and left on self? 45 Expressive language skills: Does your child a Know two to four single words? b Use two-word sentences? c Refer to self by own name? d Use plurals? e Converse in sentences? f Give full name? g Comprehend “tired,” “cold,” and “hungry”? h Name opposite analogies two times out of three (up/down, mother/father, in/out)? i Comprehend senses (taste, feel, smell, see, hear)? j Define words correctly six out of nine times (ball, desk, house, banana, curtain, ceiling, bush, sidewalk)?

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9

48+ mo ________ ________ ________ ________ ________ Both ________

Yes _______ _______ _______ _______ _______

No _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______

_______

_______

_______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______

_______

_______

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10

Pediatric Neurologic Evaluation

46 Other language skills: Does your child a Have difficulty finding the correct words in conversation? b Have difficulty in getting the correct word out to use in conversation? c Put words in the wrong order? d Confuse words that have similar sounds? e Have difficulty pronouncing words or sounds? f Hesitate or stop before he or she completes sentences? g Stutter or stammer? h Respond inconsistently to sound and speech? i Understand what is said to him or her? j Label objects (house, tree, car, ball)? k Label actions (walk, run, sleep, ride, jump, read, write)? l Understand stories read to him or her? m Tell about events happening during the day? n Comment on what he or she is doing? o Relay a short message? 47 Is your child a Understood by parents and family? b Understood by other adults? c Understood by other children? d Teased by children about his or her voice? e Teased by children about his or her speech? 48 Social skill development and idiosyncratic behaviors: a Does your child (1) Exhibit affection spontaneously? (2) Like to be held or played with as much as other children? (3) Share or take turns with other children readily? (4) Tend to be bossy or attempt to dominate other children? (5) When compared with other children, show decreased eye contact? (6) When with a group of children his or her age, stand outside or apart frequently? (7) Appear to be in a world of his or her own? (8) Walk on his or her tiptoes? (9) Flap his hands or arms when excited or stressed? (10) Exhibit other repetitive movements when excited or stressed? 50 Basic educational skills: a Can your child (1) Count from 1 to 10? Count from 10 to 20? (2) Count 1 to 10 objects? Count 10 to 20 objects? (3) Identify the numbers 1 to 10? Identify the numbers 10 to 20? (4) Recognize his or her name in print? (5) Name letters in his or her name? (6) Identify other letters in the alphabet? (7) Print his or her first name correctly? (8) Point to basic colors (red, green, blue, yellow, black, white)? (9) Understand the concept of money? (10) Identify coins (penny, nickel, dime, quarter)? (11) Print the numbers 1 to 10? (12) Print all the letters of the alphabet? (13) Include at least six body parts (head, arms, body, legs, eyes, ears, nose, fingers, hair) when drawing a person? (14) Understand the concept of “same or different”? (15) Repeat a short sentence?

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Yes

No

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______

_______ _______ _______

26/07/2005 15:02:44

Neurologic History

b

(16) Recognize similar letters? Recognize similar words? Recognize similar numbers? Does your child have problems in (1) Reading Word identification? Comprehension? Phonics? (2) Spelling Oral? Written? (3) Writing Legibility? Slow speed? Sentence construction? Basic grammar? (4) Math Memory of basic facts (addition, subtraction, multiplication, division)? Operations (addition, subtraction, multiplication, division)? Word problems? (5) Organization Completing classroom assignments? Completing and turning in homework? Planning study time or morning routine? (6) Reasoning and problem solving (personal or in school)? (7) Science, social studies, humanities, foreign languages?

Yes _______ _______ _______

No _______ _______ _______

_______ _______ _______

_______ _______ _______

_______ _______

_______ _______

_______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______

_______ _______ _______

_______ _______ _______ _______ _______

_______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

11

E Attention/activity/behavior/habits 1

1405117672_4_001.indd 11

Does your child a Sit still for a fascinating activity, such as television or being read to (1) For under 5 minutes? (2) For 5 to 10 minutes? (3) For 10 to 15 minutes? (4) For more than 15 minutes b Sit and listen to a story when being read to individually? c Sit and listen to a story as a part of a group? d Seem attentive? e Seem to daydream? f Seem to be easily distracted? g Go quickly from one task to another? h Perform better in a calm, nondistracting setting? i Hear, but not appear to listen? j Appear overly frightened or anxious about new experiences? k Avoid written work, such as printing or coloring? l Produce sloppy work, even though he or she tries hard? m Desire friends, but frequently makes them angry? n Insist on being in charge or he or she will not play? o Have verbal fights with children? p Have physical fights with children? q Have a violent temper? r Have temper tantrums? s Steal? t Swear or use vulgar language? u Act verbally abusive to parents? v Act verbally abusive to other adults? w Act physically abusive to parents? x Act physically abusive to other adults?

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Pediatric Neurologic Evaluation

12

Cheat in order to be the winner? Lose his or her temper quickly? Allow his or her feelings to be hurt easily? Engage in (1) Head banging? (2) Bed rocking? (3) Hand flapping? (4) Walking on tiptoes? cc Frequently place his or her hands over ears to block out sound? dd Show a lack of interest in people? ee Speak in a mechanical, machine-like voice? ff Speak in a whisper? gg Seem preoccupied with strange creatures or monsters? hh Avoid affection? ii Avoid eye contact or looking at people? jj Frequently appear to be in his or her own world? kk When observed with a group of children, seem to be apart or alone frequently? ll Seem impulsive? mm Seem explosive? nn Change moods quickly? oo Have difficulty in appreciating danger? pp Seem easily frustrated? qq Have trouble waiting his or her turn? rr Seem extremely talkative? ss Show shame or remorse? What type of school does your child attend? public _______ private _______ At what age did your child begin preschool or day care? At what age did your child begin kindergarten? What grade does your child attend now? y z aa bb

2 3 4 5 6 7 8 9 10 11

If in a regular grade (class), does your child receive special help? Has your child ever been absent from school for 2 weeks or longer at one time? Has your child had frequent short absences from school, resulting in absences of more than 30 days in the school year? Has your child ever been suspended from school? Has your child ever been retained by either your decision or the school’s? Was your child ever elected to an honor society?

Yes _______ _______ _______

No _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______ _______

______________ ______________ ______________ Yes No _______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______ _______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______ _______

_______ _______ _______

_______ _______ _______

F Skills or abilities 1

2

3

Sports a Baseball or softball b Tennis c Swimming d Football e Soccer f Basketball g Computer or video games h Other Music a Singing b Dancing (including ballet) c Instruments Specify Art a Drawing b Copying c Other

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Neurologic History

13

Yes No Academic a Reading _______ _______ b Creative writing _______ _______ c Math _______ _______ d Computer literate _______ _______ e Typing (keyboarding) _______ _______ 5 Is your child a member of a a Club _______ _______ b Other student organization _______ _______ Specify ___________________ ___________________ ___________________ ___________________ 6 Has your child ever been elected to an office? _______ _______ 7 In what skill or ability area(s) does your child seem to excel over most children his or her age? _______________________________________________________________________________________________________________ _______________________________________________________________________________________________________________ 4

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PEARLS & PERILS

• The diagnosis can often be determined or inferred from one or two key questions • Willingness to comply with treatment can be probed by use of key questions. • Willingness to accept diagnosis can be probed through key questions.

26/07/2005 15:02:44

CHAPTER 2

The Neurologic Examination of the Preterm and Fullterm Neonate and of the Infant Patricia H. Ellison, MD and Donna K. Daily, MD

In a medical world of high technology, in particular the ready availability of neonatal head ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI), does the neurologic examination of babies still contribute to the diagnosis and treatment of neurologic disorders? Does it have other attributes, such as reassurance to the parents and clinicians? Can it be used as a measure of improvement from either systemic or neurologic disorder or used to identify the need for early intervention planning and services? As clinicians who have reviewed hundreds of medical charts, the authors have noted considerable diversity in the numbers and types of items recorded by physicians as part of the neonatal neurologic examination. However, in general, the report is modest, with progress notes often consisting of brief phrases, such as “alert, moves all extremities.” The most detailed examinations are often those of the physical or occupational therapist or those of a developmental pediatrician or pediatric neurologist, if consulted. The neurologic abnormality is often first noted after a clinical event, such as a seizure, or an abnormal imaging study indicating cerebral hemorrhage, or after the observation of significant lack of response, such as depression following birth or failure to suck well. Single item abnormalities, such as a facial palsy or brachial plexus injury, appear to be noted fairly soon, if not in the delivery room, then in the initial newborn examination. Other neurologic abnormalities, such as decreased alertness or even fairly diffuse hypotonia, may not be identified in the brief newborn hospitalization which is common presently. That places an increased obligation on the physician for the physical and neurologic examination of the infant at 2 weeks.

Appendix: neonatal and infant neurologic examination

OUTLINE

What should be part of the neurologic examination? Who should do the neurologic examination? What is the prognosis for neurologic abnormality?

What should be part of the neurologic examination? Fortunately, there has been a series of clinicians who have keenly observed newborns and infants and who have created a large pool of items which could be used for neurologic examinations. Most of these clinicians have described and recommended a far larger number of items than can be done owing to limitations of time for the clinician, or tolerance, especially by sick newborns. The first consideration is to find some method of limiting the number of items. Secondly, the examination needs to be reliable, using the definitions developed by scientists for clinical measurement. In short, the examination method should have a mathematical cohesiveness of reliability, should be highly correlated when used from one time of examination to another and should be highly correlated when used from one examiner to another. To this end we have developed instruments of measurement of the neurologic examination for three age groups: the PremieNeuro for gestational ages 23–37 weeks; the NeoNeuro & Up for the gestational ages 38 weeks to age 4 months; and the Infanib for infants ages 4–18 months. The details of the methodology have been described previously. These three examinations assess aspects at the different ages, each of which has a number of items sufficient to assure validity (Table 2.1). In addition, some other basic neurologic information needs to be gathered. Serial head circumferences seem so basic that they would not need to be mentioned in a learned chapter. Yet they have been missing in charts under review from the initial newborn evaluation; serial evaluations have been missing in newborns already identified with brain abnormality, and in

14

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26/07/2005 15:18:18

FEATURES

The Neurologic Examination of the Preterm and Fullterm Neonate and of the Infant

Table 2.1 Neurologic Examinations of the Newborn and Infant – Comparative Characteristics

Age group to be tested Diagnostic category for total score Factors (elements which comprise the total score) Number of items Includes behavioral measures

PremieNeuro

NeoNeuro & Up

Infanib

23–37 weeks gestational and/or post conception age Abnormal, questionable, normal

38 weeks gestation to 56 weeks post conception age Severely abnormal, moderately abnormal, mildly abnormal, normal Hypertonus, primitive reflexes, limb tone, neck support, reflexes and tremor, alertness, fussiness 32

4–18 months of age

Neurologic, movement, responsiveness

16 (28 weeks/off respirator) 2 items

infants with a chief complaint that could refer to the brain. A second problem is that different services are often performed at different locations and by different clinicians, with poor communication of measurements of head circumference from one clinician to another. Always get the head circumference! The definition of a head circumference which is abnormal should be straightforward. Any head circumference two standard deviations from the mean is abnormal (macrocephaly = 98th percentile or above; microcephaly = 2nd percentile or below). In addition, inappropriately enlarging heads need attention. Both accelerations and decelerations of growth should trigger concern. Obtain an imaging study with any measurement at the 98th percentile or above. In infants less than 6 months of age, an ultrasound will define the size of the ventricles. In most hospitals computed tomography is readily available, quick, and much more infant-friendly than in the past.

Who should do the neurologic examination? It is obvious on chart reviews that neurologic examinations are being done by clinicians and therapists with different types of training. The documentation of the neurologic examination as performed by other health care professionals such as nurses, occupational and physical therapists can complement that of the treating physician.

Scored assessment instruments I. The PremieNeuro scoring sheet The PremieNeuro is a neurologic examination of preterm infants between the ages of 23 and 37 weeks gestational age. It consists of 24 items divided into three factors (Neurological, Movement, Responsiveness), each with eight items. If the infant is very immature or on the ventilator, only the first 16 items are scored because they can be done with minimal dis-

1405117672_4_002.indd 15

15

8 items

Abnormal, transient, normal Spasticity, vestibular function, head and trunk, French angles, legs 20 0 items

turbance of the infant. The items in Factor 1 (Neurological) address reflexive behavior, progression of muscle tone, and movement type. The items in Factor 2 (Movement) document rate per minute of avoidance behaviors and limb movement. Lastly, the items in Factor 3 (Responsiveness) address head and trunk control as well as alertness and responsiveness. The examination should be scheduled one-half to 1 hour before a feeding. Asymmetry of findings should be noted for scoring. The examination consists of techniques commonly used for more mature infants but criteria for describing the very immature infant’s responses differ (see photographs in NeoNeuro examination). 1 Arm Recoil. With the infant in supine position, take both hands and extend them alongside the trunk, hold 3 seconds and release. Note the amount of flexion at the elbow that is observed within 5 seconds. (a) 180° (b) 100–179° (c) 60–99° (d) dyskinetic) with the percentage of abnormal CTs in those with dyskinetic cerebral palsy being much lower than in other forms of cerebral palsy (Table 17.5B). Further, in many patients, the timing of the insult could be determined (Table 17.5C). Some of the more common etiologies of prenatal onset include intrauterine infection, stroke, toxemia, and placental abruption. Perinatal onset includes hypoxic ischemic encephalopathy, kernicterus, and trauma. Postnatal onset includes infection, stroke and trauma. Etiologies tend to be different in term

25/07/2005 14:36:35

TABLE 17.5A

Computed Tomography in Children with Cerebral Palsy; Overall Yield of Finding an Abnormal CT Scan in Children with Cerebral Palsy

TABLE 17.5B

General Pediatric Neurologic Diseases and Disorders

Percentage of Patients with an Abnormal CT Based on Type of Cerebral Palsy

TABLE 17.5C

466

Classification of Timing of Injury of Cerebral Palsy Based on CT Scan Abnormalities*

Reference

Age (years)

Type of cerebral palsy

% Abnormal

Wiklund et al. 1991 Wiklund et al. 1991 Miller & Cala 1989 Chen 1981 Kolawale et al. 1989 Taudorf & Melchior 1984 Schouman-Claeys et al.1989 Cohen & Duffner 1981 Molteni et al. 1987

5–16 5–16 6–35 0.08–7 1–10 NA 0.6–15 0.67–10 5–16

Hemiplegic Hemiplegic Ataxic Mixed Mixed Mixed Mixed Hemiplegic Hemiplegic

73 75 62 84 73 67 63 87 93

Hemiplegic (n = 146) Ataxic (n = 19) Mixed (n = 29) Diplegic (n = 153)

89% 88% 79% 75%

Quadriplegic (n = 111) Hypotonic (n = 19) Dyskinetic (n = 14)

70% 73% 36%

Reference

Type of cerebral palsy

% Prenatal

% Perinatal

% Postnatal

% Unclassifiable

Wiklund et al. 1991 Wiklund et al. 1991 Chen 1981 Kolawale et al. 1989 Taudorf & Melchior 1984 Molteni et al. 1987 Total

Hemiplegic Hemiplegic Mixed Mixed Mixed Hemiplegic

44 64 33 16 11 53 32

39 82 54 35 74 47 50

0 0 13 26 15 0 12

17 7 0 28 0 0 6

and preterm babies and are discussed further in the section on MRI. A CT scan in a child with cerebral palsy may on occasion detect conditions that are surgically treatable that might not be detected by neurological examination. One retrospective study reported that 22.5% of 120 patients had potentially treatable lesions (hydrocephalus, arteriovenous malformation, subdural hematomas and hygromas, and a vermian tumor) (Kolawole et al. 1989). The majority of other studies reported either no patients with potentially treatable lesions (Cohen & Duffner 1981; Molteni et al. 1987; Wiklund et al. 1991) or lower incidences of 5% (Chen 1981), 14% (Taudorf et al. 1984) and 17% (Miller & Cala 1989) (Table 17.5D). On occasion, CT (as well as MRI) may detect abnormalities that suggest a potentially treatable inborn error of metabolism (see section on metabolic testing).

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MRI scans of children with cerebral palsy were abnormal in about 89% of patients (range 68–100%) (Table 17.6A) (Candy et al. 1993; Cioni et al. 1999; Hayakawa et al. 1996; Jaw et al. 1998; Krageloh-Mann et al. 1995; Okumura et al. 1997; Sugimoto et al. 1995; Truwit et al. 1992; Yamada et al. 1993; Yin et al. 2000; Yokochi et al. 1991b; Yokochi et al. 1991a). The yield on MRI (Table 17.6B) depends on the type of cerebral palsy that was present (dyskinetic >quadriplegic > hemiplegic > diplegic > ataxic) and is somewhat different than that reported using CT. Further, MRI may be helpful in determining whether the injury was prenatal, perinatal or postnatal in onset (Table 17.6C). Onset was thought to be prenatal in approximately 40%, perinatal in 35%, and postnatal in 4%. The yield from MRI also depends on whether the child with cerebral palsy was born prematurely, at term or whether cerebral palsy was due to an insult later in life. In most series, this is

25/07/2005 14:36:35

TABLE 17.5D

Disorders of Motor Execution I: Cerebral Palsy

Percentage of Patients with other Etiologies of Cerebral Palsy Based on CT and Clinical Data Metabolic Genetic

4% 2%

Brain malformation Treatable condition

7% 5%

*Etiologies could not be determined in all patients in the studies listed in Table 17.5A and in some patients more than one category of etiology was given. Data from the studies listed in Table 17.5A.

due to the fact that MRI is more sensitive in detecting periventricular leukomalacia, other perinatally acquired lesions as well as subtle congenital anomalies of brain development. In summary, an MRI affords more complete information than CT without the added burden of radiation.

Metabolic testing Metabolic disorders may on rare occasions masquerade as cerebral palsy. Six case series describe 30 children who ultimately developed what appeared to be dyskinetic cerebral palsy due to glutaric aciduria (type 1) (Haworth et al. 1991; Kyllerman et al. 1994; Baric et al. 1998; Hauser & Peters 1998; Hartley et al. 2001; Smith et al. 2001). These children typically develop normally until 5–10 months of age when they suffer an acute encephalopathy manifested by coma that is followed by dystonia, motor impairment and macrocephaly (in about 60%). Distinctive MRI and CT findings occur in half the patients and are manifested by frontal and temporal atrophy. Early diagno-

TABLE 17.6A

467

sis is important as glutaric aciduria is treatable; early intervention may prevent significant motor and cognitive impairment. Other metabolic disorders presenting with symptoms suggestive of cerebral palsy also have been reported in small case series and include Lesch-Nyhan syndrome (Mitchell & McInnes 1984), 3-methylglutaconic aciduria (Gibson et al. 1997; Straussberg et al. 1998; Pantaleoni et al. 2000), pyruvate dehydrogenase deficiency (Lissens et al. 1999), argininemia (Prasad et al. 1997; Willis et al. 2000) deficiency, succinic semialdehyde dehydrogenase deficiency (Gibson et al. 1997) and female carriers of ornithine transcarbamylase deficiency (Christodoulou et al. 1993). Other childhood neurologic disorders (e.g. dopa responsive dystonia, hereditary spastic paraplegia, ataxia telangiectasia) may initially be misdiagnosed as cerebral palsy because of the slow rate of progression of symptoms (Swaiman 1999). Other clinical or laboratory features of such conditions and observations that neurologic symptoms are progressive should suggest that the child does not have cerebral palsy and mandates the need for further evaluation.

Magnetic Resonance Imaging in Children with Cerebral Palsy Reference

Age (years)

Type of cerebral palsy

% Abnormal

Krageloh-Mann et al. 1995 Yin et al. 2000 Candy et al. 1993 Okumara 1997, pt 2 Cioni et al. 1999 Jaw et al. 1998 Sugimoto et al. 1995 Hayakawa et al. 1996 Truwit et al. 1992 Yamada et al. 1993 Yokochi et al. 1991

5–17 0.25–18 0.25–2.25 1–19 1–18.3 0.33–13 0.75–15 0.5–6 0.08–41 NA NA

SQ M M M M M M SD M M D

91 91 77 78 100 95 100 79 93 100 68

TABLE 17.6B

Mean % abnormal MRI 89%

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Percentage of Patients with an Abnormal MRI Scan Based on the Type of Cerebral Palsy Dyskinetic (n = 3) Quadriplegic (n = 104) Hemiplegic (n = 50)

100% 98% 96%

Diplegic (n = 99) Ataxic (n = 8)

94% 75%

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TABLE 17.6C

468

General Pediatric Neurologic Diseases and Disorders

Classification of Timing of Injury of Cerebral Palsy Based on MRI Scan Abnormalities* Reference

Type of cerebral palsy

% Prenatal

% Perinatal

% Postnatal

% Unclassifiable

Krageloh-Mann et al. 1995 Yin et al. 2000 Cioni et al. 1999 Jaw et al. 1998 Sugimoto et al. 1995 Subtotal

Spastic quadriplegic Mixed Mixed Mixed Mixed

14 26 59 29 44 37

39 54 30 28 37 35

0 3 11 3 0 4

46 18 0 8 19 15

* Etiologies could not be determined in all patients in the studies listed in Table 16.6A and in some patients more than one category of etiology was given. In some studies there were no data provided as to a specific etiology.

Coagulopathy testing

Associated problems (Table 17.7) Epilepsy (Table 17.8) Given the higher frequency of epilepsy in children with cerebral palsy, EEG may be considered during the initial evaluation (Zafeiriou et al. 1999). The utility of EEG for establishing an etiology in this population has not been prospectively investigated. Approximately, 43% (range 35–62%) of children with cerebral palsy develop epilepsy (Table 17.9) (Brun & Kyllerman 1979; von Wendt et al. 1985; Miller & Cala 1989; Murphy et al. 1993; Albright 1996; Hadjipanayis et al. 1997; Kaushik et al. 1997; Chambers et al. 1999; Cioni et al. 1999). One prospective study compared patients with cerebral

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Associated Problems • Hemiplegic patients with cerebral palsy commonly have a smaller hand and somewhat smaller foot compared with the normal side. This is not the result of disuse but rather the result of the lack of a trophic factor. • Such a hand not only will be small but also will have a sensory loss. One can unequivocally state that the hand will be a helping hand and but not good at skilled acts. • Therapists may be unrealistically enthusiastic about making this hand “normal” with an aggressive program. • Hemiplegic patients may have homonymous hemianopsia. Identification of this problem is important so that one can give advice regarding appropriate classroom seating.

PEARLS & PERILS

Patients with hemiplegic cerebral palsy frequently have suffered a prenatal or perinatal cerebral infarction. Data from three CT studies listed in Table 17.5 (n = 196) found cerebrovascular occlusion, usually in the middle cerebral artery distribution, in 13% (Wiklund & Uvebrant 1991), 32% (Taudorf et al. 1984) and 37% (Cohen & Duffner 1981) of individuals. Children, in contrast with adults, often have a coagulopathy, congenital heart disease or an infectious process as the etiology of stroke (Lynch et al. 2001). Several studies have reported coagulation abnormalities as the etiology of neonatal cerebral infarction (Thorarensen et al. 1997; Harum et al. 1999; Kraus & Acheen 1999; Gunther et al. 2000; Kenet et al. 2000; Golomb et al. 2001; Okun et al. 2000; Mercuri et al. 2001). These have included factor V Leiden deficiency, the presence of anticardiolipin or antiphospholipid antibodies and protein C or S deficiency. The studies have also described the relation between neonatal cerebral infarction, coagulopathies and a later diagnosis of hemiplegic cerebral palsy. The question should be raised as to whether treatment is indicated even if a coagulopathy is identified. Further, if a coagulopathy is identified as possibly being causally related to the motor disability, are future siblings at risk? There are no data that answer these questions.

palsy and epilepsy to those with epilepsy alone. Children with cerebral palsy had a higher incidence of epilepsy with onset within the first year of age (47% vs. 10%), history of neonatal seizures (19% vs. 3%), status epilepticus (16% vs. 1.7%), need for polytherapy (25% vs. 3%), and treatment with second-line antiepileptic drugs (31% vs. 6.7%). They also had a lower incidence of generalized seizures (28% vs. 59%) and of remaining seizure-free (37% vs. 90%) (Kwong et al. 1998). Factors associated with a seizure-free period of 1 year or more in epileptic children with cerebral palsy include normal intelligence, single seizure type, monotherapy, and spastic diplegia. Similar findings have been observed by other investigators in the studies listed in Table 17.8 and are summarized in the review by Wallace (Wallace 2001). Children with cerebral palsy who have abnormal neuroimaging studies are more likely to have epilepsy. The prevalence of epilepsy also varies depending on the type of cerebral palsy that is present. Data from the studies listed in Table 17.8 indicate that children with spastic quadriplegia (50–94%) or hemiplegia (30%) have a higher incidence of epilepsy than patients with diplegia or ataxic cerebral palsy (16–27%) (Co-

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TABLE 17.7

Disorders of Motor Execution I: Cerebral Palsy

469

Magnetic Resonance Imaging Abnormalities in Children with Cerebral Palsy Based on Preterm, Term and Postnatal Onset of Insult

Acquired lesions Periventricular leukomalacia (PVL) with other areas of injury Diffuse encephalopathy (cortical/subcortical atrophy/ventriculomegaly) Focal ischemic/hemorrhagic (e.g. infarct porencephaly) Multicystic encephalomalacia Trauma (at birth or later) Infection Malformations* Cortical dysplasia/polymicrogyria Schizencephaly Pachygyria/lissencephaly Complex brain malformation Agenesis/hypoplasia of the corpus callosum Arachnoid cyst Vermian/cerebellar hypoplasia Hydrocephalus/holoprosencephaly/hydranencephaly Miscellaneous/unknown Delayed/abnormal myelination Normal

Preterm

Term

Postnatal

261 227 14 14 3 0 3 48 8 6 5 22 3 1 1 2 7 1 3

178 45 71 52 10 0 0 55 18 11 9 6 3 0 2 2 18 9 21

22 — — 10 — 4 8 0 — — — 0 — — — — 1 — 6

Data from the following studies Yin et al. 2000; Okumara 1997, pt 2; Cioni et al. 1999; Sugimoto et al. 1995; Hayakawa et al. 1996; Krageloh-Mann et al. 1995; 1991; Candy et al. 1993; Jaw et al. 1998; Truwit et al. 1992. Abnormalities considered “insults” on neuroimaging were designated as Preterm (insult occurred before 38 weeks gestation whether infant born prematurely or at term); Term (insult occurred after full-term gestation in the perinatal period up to 1 month of age); or Postnatal (insult occurred after one month of age in infants born prematurely or at term). Malformations were categorized as Preterm if detected in infants born before 38 weeks gestation or Term if detected in infants born after a full-term pregnancy.

TABLE 17.8

* The data in the malformations section of this table are separated into preterm, term and post-term as that is how they were reported in the original reports. It is believed, however, that these malformations occur prenatally.

Associated Conditions in Children with Cerebral Palsy Reference

% Mental retardation

%Visual defects

% Speech-language disorders

% Hearing impaired

Zafeiriou et al. 1999 Murphy et al. 1993 von Wendt et al.,1985 Kolawale et al. 1989 Total

40 65 70 66 52

39 10 19 15 28

54 No data available No data available 59 38

15 4 7 14 12

hen & Duffner 1981). In patients with dyskinetic cerebral palsy, it may occasionally be difficult to differentiate partial complex seizures from dyskinetic movements.

Mental retardation Cognitive and neuropsychological functions in children with cerebral palsy are commonly impaired (Miller 1998). In general, there is some, but no absolute, relation between the type of cerebral palsy and severity of cognitive impairment.

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Children with spastic quadriplegia have greater degrees of mental impairment than children with spastic hemiplegia. Motor deficits of children with spastic cerebral palsy appear to correlate with the severity of cognitive deficits in contrast to those children with dyskinetic CP where this relation is lacking (Fennell & Dikel 2001). Children with different forms of cerebral palsy may be difficult to assess because of the motor deficits and in some forms of cerebral palsy (e.g. spastic diplegia) the differences between performance and verbal intelligence test scores actually increase with age.

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TABLE 17.9

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Prevalence of Epilepsy in Children with Cerebral Palsy References

Types of cerebral palsy

% Patients with epilepsy

Murphy et al. 1993 von Wendt et al. 1985 Miller & Cala 1989 Zafeiriou et al. 1999 Hadjipanayis 1997 Al-Sulaiman et al. 2001 Chambers et al. 1999 Bruck et al. 2001 Cioni et al. 1999 Kwong et al. 1998 Kaushik et al. 1997 Taudorf & Melchior1984 Cohen & Duffner 1981 Total

Mixed Mixed Ataxic Mixed Mixed Mixed Mixed Mixed Mixed Mixed Mixed Mixed Hemiplegic

46 48 59 36 42 54 36 62 35 38 56 35 58 43

Laterality of hemiplegia may also be a contributing factor – those children with right hemiplegia may be more likely to have impaired language function due to left hemisphere injury (Aram & Eisele 1994), although this remains controversial (Trauner et al. 1996). There is also a strong association between greater intellectual impairment in children with cerebral palsy and the presence of epilepsy, an abnormal EEG or an abnormal neuroimaging study (Wallace 2001).

Ophthalmologic impairments Visual impairments and disorders of ocular motility are common (28%) in children with cerebral palsy (Table 17.7). There is an increased presence of strabismus, amblyopia, nystagmus, optic atrophy, and refractive errors (Schenk-Rootlieb et al. 1992; American Academy of Pediatrics Committee on Practice and Ambulatory Medicine 21 1996). Children whose cerebral palsy is due to periventricular leukomalacia are also more likely to have visual perceptual problems. Many of these difficulties should be detected if currently accepted guidelines for vision screening in children with cerebral palsy are employed (Hartmann et al. 2000).

Speech and language disorders Because of bilateral corticobulbar dysfunction in many cerebral palsy syndromes, anarthric or dysarthric speech and other impairments related to oral-motor dysfunction are common. For example, articulation disorders and impaired speech intelligibility are present in 38% of children with cerebral palsy (Table 17.7) (Clarke & Hoops 1980; Love et al. 1980). Because their impaired mobility can cause limited interaction with individuals in the environment, children with cerebral palsy might not be able to develop the

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linguistic skills necessary to develop more complex speech patterns (Uvebrant & Carlsson 1994). Language (as opposed to speech) deficits in cerebral palsy go hand in hand with verbal intellectual limitations associated with mental retardation (Falkman et al. 2002). Oral-motor problems including feeding difficulties (Reilly et al. 1996; Sullivan et al. 2000), swallowing dysfunction (Clarke & Hoops 1980) and drooling (Blasco & Allaire 1992) may lead to potential serious impacts on nutrition and growth (Stallings et al. 1993), oral health (Pope & Curzon 1991), respiration (Shaw 1996), and self-esteem.

Hearing impairment Hearing impairment occurs in approximately 12% of children with cerebral palsy (Table 17.7). This occurs more commonly if the etiology of cerebral palsy is related to very low birth weight, kernicterus, neonatal meningitis or severe hypoxic-ischemic insults. Children with cerebral palsy who have mental retardation or abnormal neuroimaging studies are at greater risk for hearing impairment. Of concern are recent studies from the Center for Disease Control that almost half the children found to have severe congenital hearing loss (with or without CP) in the greater Atlanta area were not recognized until almost age 3 years (Van Naarden et al. 1999). Established guidelines for neonatal audiometric screening have recently been published (2000).

Common health problems There are few data regarding the occurrence of common health problems in children with cerebral palsy. For example, the frequency of pneumonia, urinary tract infections and otitis media is unknown. On the other hand, three

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Disorders of Motor Execution I: Cerebral Palsy

health problems have been studied in detail, namely drooling, nutrition and incontinence.

Drooling This problem may be responsible for severe skin irritations, but of greater significance is its unpleasant cosmetic effect (Rapp 1980; Sochaniwskyj et al. 1986; Dunn et al. 1987). Most studies of drooling in cerebral palsy suggest that hypersalivation is not the cause of the problem but rather, oral motor dysfunction. Fluoroscopy studies show ineffective and inadequate swallowing mechanisms. It is not surprising then that anticholinergic medication, in addition to the unpleasant side affects, have not been effective. Many other programs have been tried over the years attempting to help the children with this dysfunction, but none has been universally successful. Surgical intervention, including reposition of the salivary ducts and dividing the cordi-tympani has sometimes been effective. However, the operation is not always successful and undesirable side effects can occur, such as increased difficulty in swallowing food. During the last 10 years, behavior modification programs to help the individual control drooling have been effective. Rapp (1980) developed a device which provided auditory cues when the child drooled excessively. These cues effectively helped the small children in the study group control their drooling up to 6 months after the auditory signal was taken away. Koheil has demonstrated that electromyography, biofeedback and behavior techniques were effective (Koheil et al. 1987). The EMG auditory feedback provided the signal to the patient that he/she was having difficulty controlling oral motor function. Dunn et al. (1987) in a single case study design demonstrated that a patient could be taught self-control procedures with nonvocal positive reinforcement techniques. The criteria for success in the three studies included: (1) a mental age of more than 2 or 3 years, despite the fact that chronological age was as great as age l6; (2) motivation to control drooling; and (3) an understanding by the patients that drooling was socially unacceptable. Finally, Suskind and Tilton have reported that botulinum toxin A injections can be effective (Suskind & Tilton 2002).

Nutrition Poor nutrition also may be a major problem (Patrick et al. 1986; Shapiro et al. 1986; Waterman et al. 1992). Several early studies cited poor weight and height gain in children who were severely spastic or athetoid. This poor growth has been thought to be associated with oral motor dysfunction and/or pseudobulbar palsy. This raises several questions: how to provide adequate and appropriate nourishment; and, if nourishment is provided, will the malnourished cerebral palsy child gain weight and height? Finally, will

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the adequately nourished child be more “healthy?” Recent studies have shown that either tube feeding or gastrostomy feeding resulted in a significant increase in weight gain and, in some patients, a significant increase in height. Criteria for using this type of nutritional support have yet to be established. The adverse effects of poor nutrition on the natural course of disease of patients with cerebral palsy are poorly understood. For example, are these children more prone to infection and skin breakdown? Will improving the child’s nutritional status minimize or prevent further pneumonia? Further studies are needed to answer these questions. The parental resistance to these benign, reversible procedures should not be allowed to stand unchallenged when the child will benefit.

Bladder dysfunction A third health problem commonly encountered in patients with cerebral palsy is bladder dysfunction but not urinary tract infections. Unfortunately, the literature provides little information on the incidence of this problem. Nevertheless, in addition to one’s clinical experience, the few published studies suggest that the problem is significant. In a recent review of 50 patients with cerebral palsy (both children and adults), referred to a urological service, 28% complained of enuresis, 26% complained of stress incontinence, 18% complained of urgency and 6% noted dribbling (McNeal et al. 1983). More than 36% of the patients had more than one symptom. However, only 4 of 45 patients who underwent cystometrogram were noted to have a neurogenic bladder. Are the bladder difficulties related to lack of sphincter control? Are the problems more prevalent in patients who are retarded? Is it a more frequent problem for children whose primary deficit is spasticity or dyskinesia? Future studies are also needed in this area. For the present, clinical awareness and surveillance should lead to recognition of problems of practical importance to the patient and family.

Constipation Constipation is another problem that must be monitored by the physician. Presumably, this problem occurs as a result of the patient’s inability to control the abdominal muscles that provide the propulsion for the stool. Symptomatic treatment must be provided.

Secondary sexual characteristics Performing a survey of 207 patients with CP, Worley et al. have shown that those patients who are barely or non-ambulatory (GMCS 3, 4 or 5) begin puberty earlier but end later compared to the able-bodied population. In addition, menarche occurs later in girls with CP.

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General treatment principles Prior to discussing specific treatment programs, some general principles should be stated. 1 Long-term treatment objectives must be defined to the extent possible, taking into consideration not only the patient’s motor deficits, but also his associated problems including cognitive abilities, social skills, emotional status, vocational potential, and, most important, the availability of family support. Will the patient be able to accomplish his daily living needs? Will the patient be independent in all areas, or just some? Will the patient need public or private transportation to reach his place of employment? Will leisure activities be accessible? These questions should be considered as the treatment program is being developed. They will become more obvious and important as the patient becomes older. 2 The effects of the patient’s growth and development on his problem, with and without the proposed treatment, should be evaluated. 3 Valid alternatives, which look at risk/benefit ratios and humane/ethical dilemmas, and which might include nontreatment, should be considered. 4 Because the manifestations of cerebral palsy vary from patient to patient, treatment programs must be individualized. A team of knowledgeable individuals with different expertise best accomplishes the treatment of a child with cerebral palsy. A typical team includes a physician trained in the evaluation and treatment of developmentally disabled children. The diagnosis must be established; progressive disease must be considered and excluded, and, if possible, specific genetic syndromes identified. A knowledgeable orthopedist is another physician member of the team. Contracture, subluxed or dislocated hips, and scoliosis are the deformities that can interfere with function and comfort. Nonphysician members of the team usually include a physical therapist, occupational therapist, orthotist, speech/language pathologist and a clinical nurse specialist. Many programs have found that a psychologist, social worker and educator can play vital roles.

Treatment principles for the infancy and toddler ages The diagnosis of cerebral palsy in most patients is established during the first 2 years of life. At that time, the patient should become involved in a physical or occupational therapy program or both. There are a variety of therapy programs, none of which have proved to be more efficacious than others. The complexity of motor relationships, the inconsistent correlation of pathology with function, the lack of correlation of therapy with functional outcomes and the lack of a careful analysis of

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Treatment • None of the various occupational or physical therapy programs has ever been validated or clearly shown to be more efficacious than other comparable programs. Empirically, they seem to be extremely helpful, and clearly provide emotional benefit for patients and families. • Early intervention programs to enhance motor and cognitive development in the physically handicapped population have not been shown to be beneficial, as opposed to early intervention programs for the environmentally deprived population (for example, Head Start). On the other hand, the need to foster compensatory abilities early on and to provide emotional support must be considered when one is developing a program. • The goals of any specific treatment program must be carefully outlined. Orthopedic intervention is not necessarily intended to change function dramatically. Rather the goal of a specific procedure might be limited to better positioning.

PEARLS & PERILS

Treatment

the natural course of disease are explanations for this situation (Goldberg 1991). The first therapeutic programs developed included passive range of motion exercises (to prevent contracture) and bracing (to prevent the abnormal muscles from interfering with normal muscle function) (Weiss & Betts 1967). In the late 1950s and early 1960s, the Bobaths developed a program now known as neurodevelopmental treatment (NDT), which was aimed at inhibiting the primitive reflexes and facilitating normal movement by active patient participation (Bobath 1967). Variations of this form of therapy have been advocated during the past 15 years, although attempts to validate any one treatment program have been unsuccessful (Palmer et al. 1988; 1990). Early intervention programs which provide not only specific “hands-on” therapy but also psychologic support, are thought to be beneficial, although there is no evidence that they enhance the child’s development (Binder & Eng 1989; Palmer et al. 1990). Even this concept has been questioned in a study of parent satisfaction with an infant stimulation program for cerebral palsy. The psychological impact of rearing a disabled child can be devastating. This subject has been the focus of several studies. A study addressing the issue of psychological stress in mothers whose children are disabled concluded that the specific diagnosis did not cause as much stress as expected among mothers; however, the dependency of the disabled child on the mother for help in accomplishing activities of daily living was significantly correlated with maternal stress (Breslau et al. 1982). Specifically, the neurologically handicapped child, such as a child with cerebral palsy, who needed a great deal of care including feeding, toileting, dressing, and help with mobility, caused a great deal more distress to the mother

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Disorders of Motor Execution I: Cerebral Palsy

in comparison with distress resulting from a child with an illness such as cystic fibrosis. A therapy program might be extremely helpful in these cases, not necessarily to stimulate development but rather to offer parents easier ways to work with their child.

Treatment principles for the school age and adolescence age groups As the child with cerebral palsy approaches school age, the goals of the therapy programs begin to shift from enhancing motor development and minimizing contracture toward helping the child cope with the expectations of the classroom. Sitting properly and moving about the environment (including the use of a wheelchair) are gross motor needs that may require physical therapy (Nwaobi et al. 1983). Use of the small muscles for fine motor function such as writing, cutting, etc., may need to be enhanced. Most important is a therapy program to help the child communicate, either with speech or communication devices. Dressing, feeding, toileting, and other activities of daily living (ADLs) are important needs that should be incorporated into the educational “treatment” program. The occupational therapist is usually the person to work with the patient toward these ends.

Treatment options The motor deficits can be analyzed in four distinctive ways: (1) loss of selective motor control and dependence on primitive reflex patterns for ambulation; (2) abnormal muscle tone that is strongly influenced by body posture and/or position and/ or movement; (3) imbalance between muscle agonists and antagonists; and (4) impaired body balance mechanisms.

1 Loss of selective motor control and dependence on primitive reflex patterns for ambulation A remedy does not exist that can significantly alter selective motor loss, such as lack of control of lower extremity muscle. Physical and occupational therapy programs can provide help. The primary goals of a physical therapy (PT) program are to minimize the impairment, reduce the disability and optimize function3. Various schools of therapy promote programs that superficially vary greatly, but nevertheless have certain common principles, including development of sequence learning, normalization of tone, training of normal movement patterns, inhibition of abnormal patterns, and prevention of deformity.

2 Abnormal muscle tone that is strongly influenced by body posture and/or position and/or movement Selective dorsal rhizotomy Selective dorsal rhizotomy (SDR) involves the cutting of approximately 50% of the dorsal roots, thereby decreasing

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the muscle tone in the lower extremities (Abbott 1996). As a result of the decrease in the muscle tone, discomfort or pain will be alleviated, and sitting posture and/or gait will improve. The ideal candidate is a child who has normal or near normal strength in the lower extremities, who has not developed fixed contractures and whose alteration of tone will lead to the desired improvements in function. The first of three randomized trials comparing SDR with physical therapy (PT) was published in 1997 (Wright et al. 1998). A significant decrease in muscle tone 1 year later in those patients who received the operation compared to the PT group was found. Further, the surgical group showed significant improvement in motor skills as measured by the gross motor function measure scale (Steinbok et al. 1997). McLaughlin et al. (1998) found similar significant changes in muscle tone in patients who underwent SDR. However, they did not find significant improvement in function using the same scale. They noted that the majority of their patients had a higher score on the GMFM preoperatively compared to those in the Steinbok study and suggested that the scale is not very sensitive at the high end. Wright et al. also noted significant tone reduction occurred in the SDR group compared to the PT group 1 year later. Improved gait velocity and stride length were also noted in the rhizotomy group compared to the PT group. The GMFM showed that there was a modest increase in function, statistically but not necessarily clinically significant, compared to the control group.

Botulinum toxin Botulinum toxin A (BTX-A) is a neurotoxin produced by the bacterium clostridium. The toxin exerts its effect by inhibiting the release of acetylcholine from the presynaptic site at the muscle-nerve junction. The unit of measurement for BTX-A is the mouse unit (U), a unit not of weight but of bioactivity or potency. One unit of the BTX-A is equivalent to the amount of toxin needed to kill 50% (LD50) of a group of 18–20 g female Swiss Webster mice. The LD50 for monkeys given BTX-A intravenously is 40 units per kilogram (Cosgrove & Graham 1994). The lethal dose in humans on the other hand is not known. Extrapolating from these data, a 70 kg human would require at least 3000 U parentally to be lethal. BTX-A, when injected into the muscles of spastic mice will normalize the tone and allow the muscle to lengthen with growth of the limbs (Cosgrove & Graham 1994). This experimental observation has led to the use of BTX-A in cerebral palsy (Russman et al. 1997). A combination of muscle weakening and strengthening of the agonist muscle minimizes or prevents contracture development with bone growth. This type of intervention is used when a limited number of muscles are causing deformities such as spasticity of the gastrocnemius muscle causing a toe-heel gait or hamstring spasticity being responsible for a crouch gait. Recovery of the muscle tone occurs because of the sprouting of the nerve

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General Pediatric Neurologic Diseases and Disorders

terminals, a process which peaks at approximately 60 days (Cosgrove et al. 1994).

Intrathecal baclofen infusion (ITB) Baclofen, a GABA agonist, administered intrathecally via an implanted pump (ITB) has been helpful to patients whose muscle tone is more generalized and, whose muscle tone is interfering with function (Albright 1996). As baclofen does not cross the blood-brain barrier very effectively, large doses must be used PO to achieve success compared to administering baclofen intrathecally. Invariably, the patient on PO medication becomes lethargic. The candidates for this intervention can be divided into two groups. Group 1 is ambulatory patients whose gait is adversely affected by the muscle tone and who have some underlying muscle weakness. SDR in these patients is contraindicated as the procedure will cause muscle weakness, possibly, causing an ambulatory patient to become non-ambulatory. A second group of patients are those whose generalized tone interferes with activities such as hygiene, transferring from a chair to a bed or just maintaining a safe upright position.

Oral medications The use of oral medication for the management of abnormal tone has been disappointing. For spasticity, dantrolene, baclofen and diazepam have been used. Tinizide, a new antispasmodic, has been shown to be efficacious in some patients with spinal cord injury and multiple sclerosis. There are no studies of this medication in the treatment of cerebral palsy. Medications for the dyskinesias, including dystonia, athetosis, and hemiballismus have been equally disappointing (Pranzatelli 1996).

Other treatment modalities

3 Imbalance between muscle agonists and antagonists Static contracture of muscle related to spasticity is a common problem for which surgical lengthening of the musculotendinous unit is frequently performed. Fixed muscle contractures are almost never seen in patients with pure dyskinesias, but when they do occur, surgical intervention is considered, but with extreme caution.

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4 Impaired body balance mechanisms The child with cerebral palsy invariably has abnormalities of balance to some degree. In spastic diplegia, posterior balance is affected most severely. A child with only disturbances in posterior equilibrium is usually able to walk without the use of external aids. If anterior balance is also affected, crutches are necessary for ambulation. Children with deficiencies in lateral equilibrium usually require a walker or, if the lateral equilibrium reactions are severely deficient, may be unable to walk independently. The deficiencies in equilibrium are related to an irreparable neurological lesion and are lifelong.

Prevention Low birth weight babies account for the greatest number of patients with cerebral palsy. In a review of intraventricular hemorrhage and the use of phenobarbital to prevent this phenomenon, Kuban et al. noted that the incidence of cerebral palsy in those mothers who were toxemic and had received magnesium sulfate was less than a comparable group (Kuban et al. 1992). O’Shea found a decreased risk of subarachnoid hemorrhage and intraventricular hemorrhage in these babies whose mothers had multiple gestations, were pre-

Evaluation of the Patient after a Diagnosis Has Been Made Based on History and Physical Examination • Obtain MRI (rather than a CT scan) when the etiology is not obvious. • Metabolic and genetic testing is not indicated unless atypical features are present such as dysmorphic findings on PE or the history suggests intermittent changes such as dyskinetic movements. • Consider testing for a coagulopathy if the child has a hemiplegia. However, it is very unclear as whether the presence of positive findings will alter the management of the patient or change the advice about the risk for future children.

PEARLS & PERILS

Transcutaneous electrical stimulation as advocated by Pape et al. consists of a low level electric stimulus to the nonspastic antagonist muscles for prolonged periods of time, while the patient is sleeping (Pape et al. 1993). The theory is that this treatment will strengthen the stimulated muscles that in turn will overcome the effect of the spastic muscles, thereby improving the patient’s function. Unfortunately, research is lacking supporting the theoretical basis of this treatment. Most of the information as to success of this type of intervention is anecdotal.

Rang et al. and Bleck have argued cogently that the overall result is much better if all contracted muscles are lengthened simultaneously rather than staging the procedures (Rang 1986; Bleck 1987). Not only does accomplishing all surgery during the course of a single procedure lessen morbidity, but by simultaneously balancing all major lower extremity joints, much better function is possible. In many centers for cerebral palsy, gait analysis is felt to be necessary for objective pre- and postoperative evaluations (Gage 1994). Gait analysis is a method by which the walking pattern of an individual is examined in detail. It is based on the gait cycle, which is the basic unit of walking.

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Prognosis When the diagnosis of cerebral palsy is first established in a nonambulator, the first question asked is “Will my child walk?” Criteria for predicting independent walking have been developed (Bleck 1975). If, by the age of 1 year, the patient still has persistent primitive reflexes and the protective reflexes have not developed, it is unlikely that the child will ever ambulate independently. Further, if the child has severe dyskinesias, or falls into the dysequilibrium category, ambulation will not be achieved. Even though cerebral palsy is a result of a nonprogressive central nervous system lesion, the child who is a marginal ambulator, upon entering the early teens, may lose walking ability because of contractures, excess weight gain, or lack of motivation. Those involved with the care of cerebral palsy patients must be alert to these potential problems and take early preventive measures. Because cerebral palsy is commonly associated with mental retardation, parents also express concerns about the child’s cognitive development. Data from the analyses of large series help address this issue. The quadriplegic patient who has epilepsy, almost certainly will be, at best, educable mentally retarded. Of patients with dysequilibrium syndrome 90% are also retarded. CT and MRI studies also offer prognostic insights into cognitive development. Lesion size, degree of motor disability and electroencephalogram abnormalities, in one study were found to correlate with cognitive impairment. However, location of the lesion was not predictive (Cohen & Duffner 1981). In most patients, a prognosis about intellectual development must be deferred pending the development of language because this skill is correlated with intellectual development. Therefore, in the questionable situations, a prognosis cannot and should not be rendered until after age 2 years. Furthermore, in the athetoid patient who might have a severe dysarthria, a prognosis about intelligence should be postponed until school age is attained. An examiner experienced with the severely disabled dyskinetic population should perform the evaluation, as the patient may be a poor

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Prognosis • On reaching the early teens, marginal ambulators may stop walking because of contractures, excessive weight gain, or lack of motivation. This does not necessarily mean that the patient has a progressive disease. • Quadriplegic patients with epilepsy at best are educable mentally retarded. • Muscle tone in some patients will change over the years. Hypotonic patients may eventually become ataxic or might develop dyskinesias. Hypotonic boys should always have a uric acid test to rule out Lesch–Nyhan disease. • Some children with the diagnosis of cerebral palsy at age 1 year will not have significant motor disabilities at age 7 years. However, such children have a higher incidence of learning disabilities. • Communication is much more important than ambulation or even having self-help skills. • Do not think that all patients with cerebral palsy who cannot speak are retarded. This specifically applies to the patient with choreoathetosis. • A change for the worse in muscle tone or functional status does not necessarily mean that the patient has a progressive disease.

PEARLS & PERILS

eclamptic, received tocolytic agents and received steroids (O’Shea et al. 1992). Finally, Nelson found that only 7.1% of mothers receiving magnesium sulfate gave birth to babies who developed cerebral palsy as opposed to 30% who did not receive MgSO4 (Nelson & Grether 1995). A recent controlled trial was prematurely stopped as the treated group experienced complications; the complete data have not yet been published (Mittendorf et al. 2003). An Australian study, also recently completed, suggested that the use of magnesium sulfate immediately prior to delivery of a premature baby did decrease the combined mortality and cerebral palsy rate in the treated group, but not at a statistically significant level (Crowther et al. 2003).

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examinee because of the motor disability and the scores might thus be misleading. As the child matures, changes in muscle tone and function may occur, which might raise concerns about the diagnosis. For example, the hypotonic infant and toddler commonly develop spasticity or athetoid movement. Not only may the muscle tone change, but the disability may lessen or disappear entirely. An analysis of the data from the NCPP showed that 118 of 229 children diagnosed as having mild cerebral palsy at age 1 showed no motor disability at age 7. However, as a group, they had a higher incidence of learning difficulties and afebrile seizures compared to the general population. Obviously, even the child who improves over time is at risk for the associated problems (Nelson & Ellenberg 1982). Finally, the examiner must be able to discuss issues of lifestyle with the parents. Communication is the most important skill required by a human being. Without this ability, even with a normal intellect, the child will have difficulty making his wants known, limiting his ability to participate in family activities, peer activities, etc. However, the technical advances being made, and expected to be made in the future allow a more positive outlook for even the most severely disabled patient with cerebral palsy.

Prognosis about vocation The goal of any treatment program is to maximize the child’s strengths and minimize the weaknesses. This obviously in-

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volves an intensive treatment program that has already been discussed. Education is also critically important for the individual with cerebral palsy. The educational program must be geared not only to develop academic skills, but also to assure that the patient will be as optimally and rewardingly employed as feasible. Studies regarding vocational status of individuals with cerebral palsy, in the 1950s and 1960s, have indicated that employability is related to cognitive skills, self-care, independency, severity of the physical disability, educational level attained, and mobility in the community. As pointed out by O’Grady et al. the studies heretofore have been retrospective (O’Grady et al. 1985). Ninety-seven students with cerebral palsy in the San Francisco, California area, between the ages of 7 and l6, were evaluated in the 1960s and 1970s and predictions were made as to their future employability. In l983, 60 of the 76 individuals over age l8 were contacted. At the time of the survey, only l7 were employed, although 39 had been employed at some time. Employment was related to the severity of the disability and the cognitive skills of the patients. A positive correlation was found between employment and mildness of cerebral palsy; that is, an individual with normal or near normal intelligence and minimal physical disability was more likely to be employed. Further, unemployment was correlated with those individuals who had severe physical disabilities and/or were retarded. An accurate prediction for patients with cerebral palsy who were in the middle range of intelligence, severity of handicap and self-help abilities, was quite unreliable. For those individuals who did better than predicted, family support and personal determination were felt to be paramount in their ability to attain their specific status. Further, the development of technology helped at least one individual who was predicted to be unemployable, but was working as an office computer assistant. Other positive factors identified in the present investigation as being important to vocational status, were an integrated education and a community-based assessment program. One has to conclude from this recent study, as well as those in the past, that employability is not related solely to the individual’s disability, but rather to other factors including family support, educational programs, technology, and community-based programs.

Conclusions and summary Cerebral palsy is a term used to describe a patient who has a nonprogressive brain lesion leading to a motoric deficit. That the motor disability may change over the years does not obviate the diagnosis. Associated problems including seizures, mental retardation, language disorder, speech deficits, as well as a strabismus, must be evaluated and treated appropriately. There are many causes of cerebral palsy, including genetic diseases and embryological abnormalities. Most often, a specific cause cannot be identified. However, risk factors can be

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identified in about 30% of cases; risk factors alert the clinician to anticipate the presence of cerebral palsy in a patient; they should be considered separate from causation. Cerebral palsy is an acceptable term as long as it is used appropriately and as long as the issues associated with this term are carefully explained to the parents. Cerebral palsy ranges in severity from minimal limitations, requiring no treatment, to total care and intensive treatment. It is those who require “total care” whom the public commonly associates with the term cerebral palsy. Consequently, the diagno-

KEY CLINICAL QUESTIONS 1. The diagnosis of cerebral palsy is established by: 1. The finding of an abnormal MRI scan of the brain 2. A history of hypoxic-ischemic encephalopathy in the neonatal period 3. A history of a motor deficit that is not worsening and increased reflexes and/or clonus on examination. 4. The presence of spasticity or dystonia on examination 5. All the above Answer: 3 2. The evaluation of a child who has been diagnosed with cerebral palsy and whose past history does not suggest an obvious cause such as IVH, encephalitis, and meningitis should consist of one of the following: 1. An MRI 2. Coagulation evaluation if the child has hemiplegia 3. Metabolic testing including urine for organic acids 4. EEG 5. All of the above Answer: 1 3. The use of botulinum toxin A medication is indicated for those children who have: 1. Spasticity 2. Dystonia 3. Hemiballismus 4. All of the above 5. None of the above Answer: 4 4. Surgical intervention in children with cerebral palsy should take place when: 1. As soon as fixed contractures develop 2. Only when the child reaches adolescence 3. Only when the contractures cause a dysfunction 4. Preferably after the age of six 5. None of the above Answer: 4 5. Which of the problems occur in children with cerebral palsy as frequently as able-bodied children? 1. Strabismus 2. Seizures 3. Urinary tract infections 4. Severe learning deficits Answer: 3

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sis must be carefully articulated to the parents, emphasizing the various degrees of impairment. If one anticipates a treatment program including physical therapy and potential orthopedic intervention, the term is appropriate and should be used.

Annotated bibliography Nelson KB, Ellenberg JH: Children who “outgrew” cerebral palsy. Pediatrics 69:529–536, 1982. This article is still the classic. Children diagnosed as having cerebral palsy may improve from the age 1 to age 7 so that the child’s motor skills are not a major problem and rehabilitation programs for the motor disability are unnecessary Abbott R: Sensory rhizotomy for the treatment of childhood spasticity. J Child Neurol 11(Suppl 1):S36–S42, 1996. Albright AL: Intrathecal baclofen in cerebral palsy movement disorders. J Child Neurol 11(Suppl 1):S29–S35, 1996. Russman BS, Tilton A, Gormley ME, Jr: Cerebral palsy: a rational approach to a treatment protocol, and the role of botulinum toxin in treatment. Muscle Nerve Suppl 6:S181–S193, 1997.

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CONSIDER CONSULTATION WHEN… • • • • •

The diagnosis of cerebral palsy is in question. The child has the hypotonic form of cerebral palsy. The etiology of the child’s motor deficit is unclear. The patient is losing motor skills. There is a family history of similar problems.

The above three articles provide information about the current use of tone management protocols for the child with cerebral palsy whose abnormal muscle tone is interfering with function or quality of life. Ashwal S, Russman BS, Blasco PA et al.: Practice Parameter: Diagnostic Assessment of the Child with Cerebral Palsy. Neurology 62:851–863, 2004. A committee of child neurologists and developmental pediatricians produced this article. The recommendations for diagnostic evaluation of the child with cerebral palsy are based on a review of the evidence from articles published in peer-reviewed journals.

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CHAPTER 18

Disorders of Motor Execution II: Higher-order Motor Deficits Ruthmary K. Deuel, MD and Amy C. Rauchway, DO

Disorders of motor execution that accompany paralysis and spasticity may be categorized as disorders of primary motility. This chapter describes different higher-order motor disorders manifest by clumsiness, and/or inadequate performance of sequential motor acts. Children’s motor development and performance may be severely handicapped by such deficits. The true incidence of such higher-order motor deficits (a term currently used to cover all of them is Developmental Coordination Disorder [DCD], ICD-9 315.4) is not known, but estimates range from 2% to 12% of first graders in regular schools (Gubbay 1975; Iloeje 1987; Nichols 1987; McHale & Cermak 1992; Dewey & Wilson 2002). Thus disorders of cerebral function that result only in clumsiness and dyspraxia, without paralysis or spasticity, are common and probably similar in incidence to specific learning disorders with which they are often associated (Johnson et al. 1981; Nichols 1987; Deuel 1992). Higher-order motor deficits were first clearly described about 100 years ago in adult patients with acquired brain damage (Liepmann 1900). They were not recognized in children until the 1920s (Orton 1925), most likely due to the fact that no obvious alteration in strength, tone, coordination, or sensation accompanies them (Liepmann 1900; 1908; DeRenzi et al. 1968; 1980; Geschwind & Damasio 1985). In children higher-order motor execution deficits have long been defined as “failure to learn or perform voluntary motor activities with an age-appropriate efficiency, despite adequate strength, sensation, attention and volition” (David et al. 1981). This general definition, of course, may be made more specific in relation to the three major types of higherorder motor deficit: clumsiness, motor dyspraxia, and material-specific dyspraxia. In the pediatric literature, even at present, clumsiness and dyspraxia are often called “a soft sign” (Deuel & Robinson 1987), and then the “soft sign” is used only as a diagnostic

Conclusion

OUTLINE

Clumsiness Dyspraxia Material-specific dyspraxias

marker for more commonly recognized neuropsychiatric disorders of childhood, such as hyperactivity or attentiondeficit/hyperactivity disorder (ADHD). Even well-evaluated movement assessment batteries for children (Croce 2001) are not constructed to distinguish among the three types of higher-order motor deficits. Although literature firmly supports a high incidence of disorders of higher-order motor execution among groups of children with cognitive and attention disorders (Pyfer & Castelman 1972; Denckla & Rudel 1978), there is absolutely no support for the view that disorders of motor execution are inevitably linked to them in individual children (Nichols 1987; Deuel & Doar 1992). When attention and cognitive disorders are found in conjunction with higher-order motor deficits, it is fitting for the physician to consider if the motor deficits are actually primary (leading to the major therapeutic effort being directed toward the motor deficits), whether the two are “comorbidities” (leading to major treatment efforts for both), or whether the neuropsychiatric disorder is primary, as in Asperger syndrome (Green et al. 2002; Schmitz et al. 2003), again leading to appropriate treatment emphasis. Detecting higher-order execution deficits is difficult for the physician, as the chief complaint usually suggests a neuropsychiatric disorder. In the present illness there may be no mention of motor difficulties. Nonetheless, a careful developmental history reveals very delayed or even nonfulfilled milestones for various gross and/or fine motor acts throughout preschool years. A history of chronic fine motor delays is reassuring that the problem is not acquired. In addition to the chief complaint being nonrevealing, a basic neurological exam will not show clumsiness, apraxia, and material specific dyspraxia without items deliberately aimed at detecting them. Higher-order motor deficits are, in fact, most apparent during naturalistic action (Buxbaum et al. 1995), and are best termed “dynamic signs,” since they appear

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TABLE 18.1

during motion. To examine for them, one should employ age-appropriate sequences of motions performed under the examiner’s surveillance. These will establish on an objective basis whether or not a higher-order motor deficit is present (Table 18.1) in the school-age and adolescent child. When motor deficits appear to be of recent onset or progressive, they may be proclaiming significant medication side effects, collagen vascular disorders, or other potentially treatable and/or progressive diseases, such as metachromatic leukodystrophy, subacute sclerosing panencephalitis (Jabbour 1969; Percy et al. 1977), Rett syndrome (Hagberg et al. 1983). In addition, cerebellar lesions may lead to motor execution deficits. Sydenham chorea, dystonia musculorum deformans, and kinesigenic dystonia are among entities that may need to be considered in the differential diagnostic process. While pure DCD early gained a reputation for independence from intracranial pathology, recent increases in sensitivity of available measures have altered this rule. Investigation of etiology by magnetic resonance imaging (MRI), particularly if a progressive disorder is suspected, is clearly warranted. In general, recent literature supports judicious use of sensitive neuroimaging and electroencephalographic investigations in children with motor execution deficits (Menkes 2000). Beyond the issue of etiology, the major reason to define higher-order motor deficits is their propensity to cause longterm severe educational and social handicaps (Gubbay 1975; 1985; Knuckey & Gubbay 1983; Hollander et al. 1996; Segal

Neurologic Evaluation History Gross motor milestones: walked independently (10–15 months), climbed stairs by self (14–24 months), rode big wheel or trike (2–3 years), rode bicycle (4–6 years) Fine motor milestones: held cup (10–14 months), drew (3–4 years), buttons and snaps (3–4½ years), prints name (4½–6 years), tie shoes (4½–6 years) Direct examination (see Chapter 4 Appendix, items N86–N158) Gaits: walking, running, skipping, tandem, hopping on one foot, climbing stairs Upper extremity: finger-tapping, wrist-turning, buttonpressing, finger–nose–finger, copying, drawing, writing Dyspraxia: imitation of nonsense gestures, pantomime to command, use of actual objects Tests with age-standardized normative values Purdue Peg Board Kaufman ABC hand movements Spatial memory PANESS (Denckla, 1985)

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et al. 2002). This happens through various intermediary mechanisms, starting with the effects on self-esteem of being always behind peers in motor performance. When a higher-order deficit is found and is chronically handicapping, long-term remedial management is in order. Such individualized management is often very helpful in both restoring functional ability and self-esteem. Even in children with cerebral palsy and other disorders of primary motility, who, as often happens, suffer additionally from higher-order motor dysfunction (Crothers & Paine 1959; Frei 1986), analyzing all motor deficits with the goal of determining the specific handicapping potential of each deficit for that individual child is recommended. The separate headings: (1) clumsiness, (2) dyspraxia and (3) material-specific dyspraxias (notably, dysgraphia) allow management to be optimally directed.

Clumsiness A child with clumsiness, suffers from slowness and imprecision in completion of very simple (single-phase) acts, such as flexing a finger or rotating the wrist and forearm. In the past this developmental motor disability has been considered together with pure dyspraxia (Ford 1960; Gubbay 1975; Iloeje 1987) but is separable from it on empirical grounds (David et al. 1981; Poeck 1986; Deuel 1992).The main point of differentiating clumsiness from pure dyspraxia is that speed and dexterity are affected in clumsiness (Table 18.2). The deficits observed in the purely clumsy child fulfill the criteria of Liepmann’s (1908) limb-kinetic apraxia or Kleist’s (1934) melokinetic apraxia. These authors described a decrement in dexterity and speed of movements without strength or tone changes in adult stroke victims. The purely clumsy child similarly exhibits slow and inaccurate fine and/or gross motor performance in the face of an otherwise normal neurologic examination. Fortunately, items such as finger tapping and wrist supination and pronation are part of the standard examination, so direct recognition of clumsiness is more likely than recognition of pure motor dyspraxia (described below). Even so, if direct resistive strength of finger muscles is not also tested, the slowness may be misinterpreted as weakness. The neurologic examination (see Chapter 4) also enables differentiation of clumsiness, not only from weakness and spasticity, but also from synkinesis, movement disorders elicited by motor acts, and tremor. Each brings its own differential diagnosis, prognosis, and treatment. Synkinesis is unwilled activity (involuntary movement) of voluntary musculature that occurs during the course of a voluntary action. It is directly elicited by production of the voluntary target action (Rasmussen 1993). Examples include involuntary opening of the eyes when a child is told to open her mouth, or involuntary opening of the mouth when she is commanded to open her eyes very wide. Synkinesis is readily evaluated in a neurologic exami-

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Table 18.2 Clumsiness Discriminating feature 1. Slow completion of single-phase movements of single joints, in the absence of weakness, spasticity, or spontaneous adventitious movements Consistent features 1. Finger or foot tapping, or both, too slow for age 2. Outcome of movement sequences improved when there are no time constraints Variable features 1. Association with dyspraxia 2. Association with adventitious movements 3. May affect facial, pedal, or axial motion separately

nation. An item that directly elicits upper extremity synkinesis is the Fog test (Fog & Fog 1963), which requires the child to walk on the sides of the feet, either the insides or outsides of the sole. When the child performs it, especially if a relatively narrow base is demanded, the arms and hands may enter distorted postures (Wolff et al. 1983), that approximate hemiparetic ones. Mirror movements are the best-known form of synkinesis. These are synkineses that occur in groups of muscles directly homologous to the groups that are in voluntary play. During the performance of the finger-tapping test a mirror movement commonly occurs: the hand that has not been commanded to tap nevertheless carries out the very same tapping activity, which may persist even in the face of a command for it to stop. The occurrence of mirror movements in the nondominant hand when the dominant hand is performing is an abnormality in persons older than 6 years of age. It has been confirmed that the amount of effort required for the voluntary (commanded) activity predicates mirror synkinesis in normal children (Todor & Lazarus 1986). Thus when searching for true excess mirror synkinesis, it is best to avoid tasks that require strenuous effort. A patient suffering from extreme mirror movements produces them in simple, nonstrenuous, everyday unimanual activities, such as turning a door handle. The incidence of mirror movements is much less (2%) than that of higher-order motor deficits in general (Nichols 1987). Clumsy children very often exhibit mirror movements. The above-mentioned finding concerning interaction between degree of exertion and occurrence of mirror movements may explain their occurrence in clumsy children, who have to exert a large amount of effort to accomplish simple motor acts. Developmentally determined mirror movements diminish with increasing age (Wolff et al. 1983). For persistent and handicapping mirror movements, an effective treatment is not known, but it may be helpful to deliberately engage the hand not involved in the voluntary

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Clumsiness • Slow, fine finger movements due to clumsiness are sometimes mistaken for distal weakness. A direct test of flexor and extensor finger strength will determine the correct designation. • Clumsiness is a primary cause of school failure in the early grades, preventing adequate academic achievement because mechanical demands are heavy and intellectual ones are light. • Clumsiness is very conducive to low self-esteem, starting very early in development. This early secondary low self-esteem mediates depression, continued failure, and thus failure in areas that have no motor requirements whatsoever. • Some clumsy individuals can improve their performance with guidance from a specific modality of sensory input. For example, the musically gifted clumsy child may be a superb performer on the flute even though she cannot tie her shoes. It is important to evaluate a range of motor performances. • Clumsiness is not a soft sign of cognitive or attention disorders, although it is statistically associated with both (Denckla & Rudel 1978; Nichols 1987; Dewey et al. 2002). In fact some believe that it is one of several possible causes of ADHD. • Often a simple explanation to parents and teachers of the mechanical difficulties at the root of the child’s slow and labored performances will change these authorities’ attitudes and demands to a great extent, allowing a marked increase in the child’s self-esteem and improved performance through improved motivation.

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action with grasping or pressing a surface. Some children spontaneously use this maneuver. Tremor (involuntary oscillations of a body part occurring at rest or during willed action) has several types. Intention tremor, when the oscillation increases as the limb in motion nears its target, is known as a sign of cerebellar disease. To test for it, use the finger-to-nose and the heel-to-shin test of the neurologic examination and observe for it during the tandem gait test and during writing, drawing, and picking up small objects. In every child with intention tremor, particularly if signs of ataxia are present, a lesion of the cerebellum or its brainstem connections must be considered. Action tremor, on the other hand, occurs throughout the limb movement but not when the limb is at rest. Action tremor, often benign in etiology (for example, benign familial tremor), may severely restrict fine motor performance. To help a clumsy child, the limits and influence of that particular child’s motor disability must first be defined. Most pediatric occupational therapy facilities are able to quantify, using age normed tests, clumsiness in young children for whom the current major effective remedy is a combination

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of “bypass” and practice. However, self-esteem usually remains an issue despite therapy, and caretakers need to take an active role in alleviating the child’s performance anxieties and poor self-image. The reduction of mechanical impediments to speedy production in required activities (a so-called by-pass method) is often used (e.g. Velcro flap shoes instead of laced shoes, zippers instead of buttons, snapped rather than buckled belts). While practice improves the child’s performance of a given act, stress may lead to disintegration of the performance. Thus under stress (as when dressing for school) certain amounts of help may be granted, but when the child is in a more relaxed situation (as when undressing for bed), this additional help can be withdrawn. It is important to realize that purely clumsy (as opposed to other types of DCD) children’s performance problem is simply a mechanical one in that the “motor program” is appropriate to the goal of the action, and only speed and precision of execution is deficient. As for prognosis, severe clumsiness is unlikely to be fully resolved by maturity (Knuckey & Gubbay 1983; Hollander et al. 1996). However, enough dexterity to allow survival in a society of people who are more adroit is usually achieved. A general rule is that if the child can learn to overcome or go around mechanical blocks and thus avoid the deficit in self-esteem created by the performance deficit, clumsiness will not be a severe handicap in the adult life of a normally intelligent individual (Ford 1960).

Dyspraxia Dyspraxia (called apraxia when acquired in adulthood) is defined as the inability to perform developmentally appropriate sequences of voluntary movements in the face of preserved power, coordination, dexterity, sensation, and cooperation. Individual fine and gross movements are often dexterous and well aimed (Table 18.3). However, depending on the type of activity required, an incorrect sequence of individual movements is produced, sometimes with additions of unrequired movements (parapraxes) (Poeck 1986) or with the spatial requirements of the sequence violated, or both. Thus the final product of what looks like a quick, dexterous complex movement may be completely ineffectual. A common example is rapid manipulation of shoelaces without a tie. The characteristic failure in the elaboration of a complex voluntary act, without observed clumsiness or slowness, may be the reason why motor dyspraxia is generally unrecognized as a source of defective actions; a motor deficit is seldom suspected, even by experienced professionals. Because primary motility (strength, coordination, and dexterity) is preserved, a standard neurologic examination does not reveal the dyspraxic deficit. Although neurodevelopmental examinations for soft signs do contain items that are affected by dyspraxia, dyspraxia per se, not contaminated by clumsi-

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Table 18.3 Dyspraxia Discriminating feature 1. Inability to perform developmentally appropriate sequences of voluntary movements in the face of preserved volition, power, speed and coordination for single motions, and sensation Consistent features 1. Abnormal outcome of rapidly performed movement sequences 2. Ability to choose the correct sequence when alternatives are modeled 3. Extra or inappropriate movements (parapraxis) Variable features 1. Association with clumsiness 2. May affect manual, pedal, axial, facial, or oro-buccal motions separately, or occasionally, all of these

ness, is not a recognized soft sign. Thus an unrecognized dyspraxic motor deficit may lead the child to be labeled as lazy, oppositional, or unintelligent, with adverse effects on self-esteem, motivation, and conduct. Any of a wide array of school and behavioral problems may be the presenting complaint for the dyspraxic child. However, if a detailed account of motor development is obtained, the history will indicate a motor abnormality. Dyspraxic children are usually delayed in dressing and grooming themselves independently and have specific problems with buttoning, snapping, zippering, donning coats and boots, tying shoes, and manipulating combs, toothbrushes, and scissors. They are often unwilling even to attempt coloring, carpentry, sewing, and cooking. This may happen despite the fact that gross motor (sitting, walking, climbing stairs, and playing soccer, for example) milestones were normal. The etiologies of dyspraxia are diverse. Adults with apraxia after stroke usually have damage to cerebral gray matter. It may follow a stroke in childhood (Crothers & Paine 1959), and it may be one of the first signs of a degenerative disease. Although dyspraxia is said to occur in mental retardation, perhaps if developmental quotient of praxic ability could be reliably determined, it would be commensurate with the intelligence quotient (IQ) in most mentally retarded children, as it is in normal children (Deuel & Doar 1992). Dyspraxia is also frequent in frank cerebral palsy (Frei 1986) as an additional deficit. In most dyspraxia that is associated with learning and attention problems, the etiology is obscure. It seems likely that involvement of the association cortex in some fashion underlies such functional deficits (Deuel 1977), but direct evidence is not available. Functional imaging studies that could elucidate these facets have yet to be carried out, and those studies that have recently addressed physiological aspects of motor abnormalities (Johnston et al. 2002;

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• The best screening test for dyspraxia is an accurate, detailed history of motor development, followed by observation of age-appropriate motor sequences. • On a general-purpose neurologic examination of school-aged children, the item most prone to be disturbed in manual dyspraxia is the finger-to-nose test (for the child it is a new, nonsense motor sequence). • To ascertain dyspraxia definitively, a standard manual dyspraxia battery may readily be administered in conjunction with the neurologic examination. Elements of such a battery are presented in Chapter 4 Appendix items N115–N149. • Facial dyspraxia is often seen in the developmental language disorder called verbal apraxia or dilapidated speech (Aram & Horwitz 1983), and oral-buccal dyspraxia is a constant finding. The finding of facial dyspraxia can help differentiate this diagnostic entity from other speech and language disorders, and point the way to appropriate therapy. • Parents and teachers generally do not recognize a “motor” deficit in the motor dyspraxic child, but, as with the clumsy child, complain of child’s laziness, sloppiness, or avoidance of tasks. • Dyspraxia is not systematically ascertained on the general-purpose neurologic examination, nor is it tested specifically in most extended or neurodevelopmental examinations designed to detect neurologic soft signs. • The secondary developmental effects of dyspraxia, diminished self-esteem and avoidance of motor sequencing tasks, may be much more handicapping than the motor deficit per se. The secondary effects may remain long after the child has developed effectual praxis. • Speech pathologists may understand the term dyspraxia to refer only to dyspraxia of speech.

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Dyspraxia

Estil et al. 2002; Wilson et al. 2002), have involved the lumped “Developmental Coordination Disorder,” without separating dyspraxia from pure clumsiness. Because morphologic pathology is not found in the vast majority of children with either dyspraxia or clumsiness, variations in information processing at the neuronal system interaction level, related to genetic and epigenetic factors, may be the cause. The KE family presents with marked oromotor dyspraxia, severe impairment of linguistic and grammatical skills, and abnormalities in the basal ganglia on MRI, that have been attributed to a point mutation in the FOXP2 gene (Lai et al. 2001). To test for dyspraxia it is best to conduct a complete neurologic examination that includes several types of patient-performed tasks, including pantomiming of actions, imitating actions of the examiner, and using actual familiar objects (DeRenzi et al. 1980; Chapter 4 this volume, Appendix items N115–N149). Such tasks should demand of the child age-ap-

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propriate complex voluntary motor activity, and be separated as to whether they demand pantomime, imitation, or use of actual objects skills. Possible items for pantomime testing in younger children are asking the child to blow a kiss or wave goodbye. For older children items from the adult apraxia examination are valid (e.g. pantomime pouring water from a pitcher into a glass, batting a baseball, or brushing teeth). The child should also be able to recognize any act he was unable to perform from among three examiner-performed actions. Choosing the correct one demonstrates the child’s recognition of the act and understanding of the command. Effective completion of a complex act by a dyspraxic child, unlike completion by a clumsy child, does not improve with extended periods of time allowed for completion. This facet of the dyspraxic’s performance can help differentiate clumsiness from dyspraxia, although some children demonstrate both difficulties. There are no psychometric-style tests for dyspraxia. However, the Kaufman ABC (Kaufman & Kaufman 1983) test has a hand-movement copying subtest that does at least test sequential manual abilities and has normative standards from 2½ to 12½ years. Chapter 4, items N115–N149 does provide tests aimed at separating the three types of dyspraxia. Gubbay (1975) has standardized a motor performance battery but it fails to provide any means of differentiating apraxia from clumsiness and adventitious movements, as do most later developed tests, such as the Movement Assessment Battery for Children (MABC) (Croce 2001). The management of dyspraxia depends on its handicapping significance for, and the age of, the child displaying it. Simple recognition of the apraxic deficit, and the counseling of the child and the parents that it is due to a specific motor problem (and not carelessness, laziness, or other voluntary oppositional personality traits) may be very helpful in removing an unnecessary stigma from the child. If the dyspraxia is idiopathic or the result of static brain damage, further management should include a combination of practice of the required motor sequences and bypass of the complex motor acts that are causing trouble. Dyspraxia is most likely to be handicapping and obvious when the child is learning a new complex motor sequence. One 10-year-old child was introduced to throwing darts when at a social gathering. At each attempt she threw the dart backward, with incremental embarrassment to her parents. The incident caused them to seek medical consultation for mental retardation in their child, whose full scale (WISC-R) IQ was 110. Apraxic children, placed in unfamiliar situations that require unfamiliar acts, are often not able to devise new or effective motor sequences. Such embarrassing motor inefficiencies cannot be completely avoided by dyspraxic children, but learning to use conscious strategies, such as verbal self-cuing, can help, particularly in the older child. The child can develop a system of conscious self-questioning: “How are the other kids in line ahead of me doing this?” “Which hand comes first, which

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part of the object is the front/the left/the right?” Such questions may help the older apraxic child consciously control motor sequencing. A nondyspraxic child, of course, seldom needs such explicit cognitive aids. The child should be made aware of situations in which the apraxic deficit will surface. She should be encouraged to understand that the problem is motor output, not intelligence. This understanding can shore up self-esteem which, in turn, empowers her to seek innovative ways to fulfill academic requirements. She should be helped to avoid situations with excessive motor demands. Practice of a given motor sequence is sometimes very useful, just as with clumsiness, although obviously every motor sequence to be encountered cannot be practiced and the amount of practice needed to overcome dyspraxia makes prioritization imperative. Because it has rarely been evaluated separately from clumsiness and synkinesis, both the incidence of pure idiopathic dyspraxia and the prognosis are unclear. In most cases it seems to be developmental, in that the ability to carry out effective complex motor sequencing improves with age. Idiopathic dyspraxia does occur alone. In a group of 30 school-aged children given a quantitative apraxia battery and finger-tapping and wrist-turning tests, there was no correlation between finger-tapping speed (always affected in clumsiness) and apraxia scores (Deuel & Doar 1992).

Material-specific dyspraxias Material-specific dyspraxias are the most circumscribed higher-order motor deficits. They cannot be detected unless the specific material with which there is difficulty is presented during testing. The most commonly recognized material-

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specific dyspraxia is linguistic (or dyslexic) dysgraphia. In linguistic dysgraphia the child cannot orally spell words correctly, but may be able to draw quite well, presenting a true material-specific (verbal material) dysgraphia. When affected children make written letters and words very poorly, spell incorrectly in both written and oral attempts, and truncate written assignments but read fluently and with good comprehension, they are clearly different from dyslexics (see Chapter 20), who have the written language disorder described, plus an inability to read. Far from 100% of children with dysgraphia have severe dyslexia, whereas some form of dysgraphia does appear in 100% of severely dyslexic children (Deuel 1981). The material specificity of the disorder is certainly best exemplified by the dyslexic child with dysgraphia, because many such dyslexic children have excellent fine and gross motor abilities when tested on other material than written expression of letters, words, and sentences. An example is seen in Fig. 18.1, in which a writing sample may be compared with the same child’s drawing of a band. Motor execution deteriorates not only from drawing to writing but also as words become more difficult to spell. Clumsy children may also be called dysgraphic, but in them the defect is not material specific, because oral spelling is normal, and they show other evidence of clumsiness when they draw or perform other fine motor activities. Written productions are sparse in both types of dysgraphia. To evaluate dysgraphia a pertinent history is important and a review of written schoolwork is helpful. One should observe production of written words, sentences, or paragraphs, depending on the subject’s educational status. Copying of a grade-appropriate sample should also be evaluated. To determine if spelling deficits are related to writing,

Fig. 18.1 A cartoon (produced in about

5 minutes) after the request to “draw me a picture and write a paragraph.” The text says, “I saw a dog in a case. When I saw it, I made it get out.” This paragraph required about 7 minutes to compose and write out. The writer was a 12-year-old sixth grade student with a performance IQ of 112. (Adapted with permission from Deuel R; Developmental dysgraphia and motor skills disorders. J Child Neurol 10 (Suppl 1):S6–S8, 1995.)

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• Highly abbreviated handwritten output or downright refusal to complete written assignments in the verbally advanced or normal child suggests isolated dysgraphia as a cause. • In dysgraphia scores on individual IQ tests, such as the Wechsler Intelligence Scale for Children, are generally normal on all subtests except the coding subtest. • Neat but very slow writing characterizes dysgraphic children. Slow output leads to paucity of written output. • The first-grade child who writes letters backward should not be declared dyslexic or dysgraphic. • It is important to test writing speed in the child whose school performance is under consideration. • It is important to test for oral spelling in a child who always fails written spelling. Otherwise, an incorrect attribution to a linguistically based abnormality rather than to a simple motor abnormality or to a spatial disorder may be made.

PEARLS & PERILS

Dysgraphia

as in the clumsy child with dysgraphia, the child should be asked to spell words aloud. When giving these tasks it is important to remember that letter reversals are common in normal young children and do not per se indicate dyslexia. Psychologists often employ the Test of Written Language (TOWL-3; Hammill & Larson 1996), which has age-appropriate norms to determine if there is an abnormality and its extent. Constructional dyspraxia is the second kind of materialspecific dyspraxia. Poor spatial intuition, great difficulty drawing and constructing three dimensional models are its hallmarks. Some children with this disorder may also present poor social and organization skills, i.e. the right hemisphere deficit syndrome (Voeller 1995). Constructional dyspraxia can be differentiated from clumsiness and from dysgraphia by normal oral spelling, and drawing more severely disordered than writing. Testing for constructional dyspraxia should include drawing age-appropriate shapes and figures in addition to writing and spelling exercises for dysgraphia. More formal tests include the Bender Gestalt test (Bender 1946; Lacks 1999) and the Benton test of visual memory (Benton 1974). The management of material-specific dyspraxias is various. Dysgraphia can be severely handicapping scholastically, and its treatment with bypass methodologies (for example, dictation of essays) is well known to most educators. Word processors with spell-check are very helpful, presumably because the motor demands of keyboarding are less than that of handwriting.

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KEY CLINICAL QUESTIONS • A 7-year-old girl with known Trisomy 21 is brought by her mother who believes the girl has been misplaced in a class for the severe-moderately retarded. On history, fine motor skills were markedly delayed, while gross motor and language skills were more modestly delayed. On exam she is attentive and talkative, has mild hypotonia, excellent strength, no adventitious movements, very slow finger tapping, and after rapidly orally spelling it for you, labors slowly to print the four letters of her first name. What further testing would you request to substantiate your diagnosis of clumsiness? What remedial modalities will you recommend? Comment: a Wisc-III IQ test showed Verbal IQ of 78 and Performance IQ of 51. Occupational therapists provided adaptive equipment and training in self-help skills, thus enabling the child to maintain her self-esteem and make good progress in a program for the mildly retarded. • A 12-year-old sixth grade star soccer goalie was seen after he was barred from sports because of failing grades in history, English, and social studies. He commented that he missed his older sister, his longtime “homework monitor,” who had just started college in a distant city. His entire past medical history (except onset of speech at about 2½ years) was normal, as was his physical and neurological exam and his drawing, but not writing sample (see Fig. 18.1). What specific disorder of motor execution can you designate? What further diagnostic evaluation would you do? What remedial measures would you recommend? Comment: This child should be given quantitative specific tests of cognition that do not involve spoken language, as well as standard individual academic achievement tests, and the TOWL (see text). Management may include bypass methodology, such as teaching him to take cryptic class notes, word processing (with spell-check) written assignments, and some tutoring. He should be allowed to return to his soccer team as soon as these remedial measures are in place. • An 8-year-old third grader comes because “She’s stopped paying attention to what she is doing.” Past medical and developmental history is normal, but in the past few weeks her mother has noted uncharacteristic slow motor activities. She appears very eager to please, and on neurological exam has mild hypotonia and a slow, ataxic tandem gait with dysmetria and a marked end-excursion tremor of the dominant right hand. What are your differential diagnostic thoughts? What specific test would you request? Comment: Since you have found unequivocal signs of right cerebellar dysfunction in a child whose personality is prompting her futile efforts to halt them, a high-resolution MRI with attention to the posterior fossa is first in order. All three common forms of cerebellar tumor are suspect.

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Conclusion

CONSIDER CONSULTATION WHEN…

Higher-order motor deficits are an important source of school failure and low self-esteem. This source is often completely unsuspected before the child encounters an informed clinician. This chapter can only briefly discuss the modes of presentation of such disorders, their differential diagnoses, and ways to make a positive diagnosis, as well as outlining principles of remediation for the specific subtypes. The clinician’s awareness of these issues remains most valuable to the patient.

• A child has a significantly unusual walking or running gait. • A child is consistently the last to finish a race. • A child exhibits significant fine or gross motor deficits on physical therapy, occupational therapy or psychoeducational testing.

Annotated bibliography Deuel RK, Doar BP: Developmental manual dyspraxia: a lesson in mind and brain. J Child Neurol 7:(S1): 99–103, 1992. A study of 164 school children 5–12 years of age given an apraxia battery and WISC-R IQ tests. Twenty-four of the children had dyspraxia according to their battery performance. Within this subgroup there was no correlation between WISC full scale IQ and severity of dyspraxia. In contrast there was a positive correlation between motor performance on the apraxia battery and full scale IQ in the entire 164-member group, again suggesting that specific cognitive and motor dysfunctions are best segregated and quantified before treatment is recommended. Gubbay SS: Clumsiness. In: Fredriks JAM, editor: Handbook of clinical neurology, vol 46, Neurobehavioral disorders. Amsterdam, 1985, Elsevier North Holland, pp. 159–167. This chapter includes a great deal about the general dilemma of a child with higher-order motor deficits. However, in common with much more recent writings, it fails to differentiate the various forms of these motor execution disorders. Leiguarda RC, Marsden CD: Limb apraxias: higher-order disorders of sensorimotor integration. Brain 126:860–879, 2000. A thoughtful analysis of brain functional and anatomic studies in human adults with the three classic forms of apraxia, correlated with results from

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monkey neurophysiological studies that raises the notion that a conceptual system (failure of which would lead to ideational apraxia) and a production system (failure of which would lead to ideo-motor and limb-kinetic apraxia) may be separable entities. This analysis depends on the relatively recent concept of multiple parallel-distributed pathways being used in concert to effect action. Liepmann H: Drei Aufsatze aus dem Apraxiegebiet. Berlin, 1908, Karger. This is a thoughtful synoptic text that reviews the general concept of apraxia as a higher-order motor execution deficit. It describes and coherently classifies forms of apraxia commonly seen after focal cerebral lesions in adults. It presents tests to differentiate the various types. It describes parapraxis (extra movements sometimes inhibitory to task completion). It outlines a very modern concept: there are many brain areas that initiate movement depending upon the type and purpose of the action. Nichols PL: Minimal brain dysfunction and soft signs: the Collaborative Perinatal Project. In: Tupper DE, editor: Soft neurological signs. New York, 1987, Grune & Stratton, pp. 179–199. A statistical evaluation of the Collaborative Perinatal Project outcome concerning soft signs in a large cohort of children. It is especially pertinent to motor execution deficits in relation to other cortical function deficits. The 30 000 subjects all received a standard battery of tests, including a Wechsler Intelligence Scale for Children and a neurologic examination at age 7 years. They had all been followed since birth.

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CHAPTER 19

Disorders of Cognitive Function in the Preschooler Ruth Nass, MD and Gail Ross, PhD

General discussion A developmental language disorder (DLD) is diagnosed when a child with normal intelligence and hearing fails to develop language in an age-appropriate fashion (Table 19.1). Most children have good receptive language by age 2 years, along with a 50 to 100-word (or more) vocabulary and some two-word phrases. Lack of well-developed expressive language by age 3 years is definitely abnormal. However, the large degree of individual variability in the rate of language acquisition (Bishop & Leonard 2000; Toppleberg & Shapiro 2000; Verhoeven & van Balkom 2003) makes it difficult at times to distinguish DLD from initial idiosyncratic delay with eventual catch-up and normal language. For example, in a group of approximately l000 ultimately normal children, first word acquisition occurred anywhere from age 6 to 30 months and phrase acquisition anywhere from l0 to 44 months (Morley 1965). This variability also accounts, at least in part, for the wide range (1–25%) in the reported prevalence of DLD in preschool children. Erring on the side of overdiagnosis in the young child and initiating therapy is probably better than underdiagnosis. Risk factors for DLD include low birth weight or prematurity, parental mental retardation, and a family history of developmental language disorders (National Collaborative Perinatal Project, Lassman et al. 1980). Increased monozygotic versus dizygotic twin concordance rates indicate that heredity, not just shared environment, is the cause of familial clustering (Bartlett et al. 2002). A number of gene loci have been implicated including: 13q 16q and 19q (SLI Consortium 2002). In the three generation KE family half the members are affected with a severe speech and language disorder that is transmitted as an autosomal dominant monogenic trait

– the FOXP2 forkhead-domain gene (Watkins et al. 2002a; Vargha-Khadem et al. 2005). Notably, however, a recent screening of 270 4-year-olds with DLD was negative for the FOXP2 mutation (Meaburn et al. 2002). Whether frequent episodes of otitis media increase the risk of a DLD is debated (Shriberg et al. 2000).

Diagnosis Table 19.2 lists additional warning signs that suggest DLD during the first 3 years. However, it is worth noting that a DLD diagnosis at age 2 years may not be reliable. In one recent study only about 40% of children retained the diagnosis at ages 3 and 4 years (Dale et al. 2003). In another study only one-quarter of children diagnosed with a DLD as preschoolers still had a DLD at school age; more than half of the original cohort turned out to have IQs too low to diagnose DLD. Ten per cent were normal (Webster et al. 2004). Another basis for diagnosis is a large discrepancy between nonverbal intelligence and language capabilities (Klee et al. 2000; Aram

FEATURES

Developmental language disorders

Visuospatial disabilities Attention deficit hyperactivity disorder Variations in temperament and cognitive style

OUTLINE

Developmental language disorders Autistic spectrum disorders Developmental coordination disorders

Table 19.1 Developmental Language Disorders Discriminating feature 1. Language deficit Consistent feature 1. Problems with comprehension or production Variable features 1. Mental retardation 2. Social problems 3. Pragmatics difficulty

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TABLE 19.2

et al. 1992). Various discrepancy criteria have been used to identify children with developmental language disorders. In one study children clinically designated as having a developmental language disorder were identified only 40–60% of the time, using variations of the Stanford Binet IQ test – Test of Language Development discrepancy score. A nonverbal IQ – specific language test performance discrepancy criteria of 1 standard deviation (i.e. Wechsler Performance IQ versus the Peabody Picture Vocabulary Test, Token Test, Rapid Automatized Naming, Sentences repetition subtest of the Comprehensive Evaluation of Language Function identified 34% of very low birth weight 7-year-olds and 45% of controls as having a developmental language disorder. A two standard deviation discrepancy yielded 14 and 19% frequency in the two groups, respectively (Aram et al. 1992). However, both under and over diagnosis occur with the best currently available criteria.

Warning Signs of a Developmental Language Disorder Limitations in expressive language Has feeding problems related to sucking, swallowing, and chewing Fails to vocalize to social stimuli and fails to vocalize two syllables at 8 months Produces few or no creative utterances of three words or more by age 3 Limitations in vocabulary Has small repertoire of words understood or used and acquires new words slowly or with difficulty Limitations in comprehending language Relies too much on contextual cues to understand language Limitations in social interaction Rarely interacts socially, except to have needs met Limitations in play Has not developed symbolic, imaginative play by age 3 Does not play interactively with peers Limitations in learning speech Expressive speech contains numerous articulation errors or is unintelligible to unfamiliar listeners Limitations in using strategies for language learning Uses unusual or inappropriate strategies for age level, e.g. overuses imitation (echolalia), does not imitate verbalizations of others (dyspraxia), does not use questions for learning (“why” questions) Limitations in attention for language activities Shows little interest in book reading, talking, or communicating with peers Source: Modified with permission from Nelson NW: Childhood language disorders in context: infancy through adolescence. New York, 1993, Macmillan; Hall N: Developmental language disorders. Semin Pediatr Neurol 4:77–85, 1997.

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Subtypes of developmental language disorders Depending on subtype, DLDs vary in their characteristic features, etiology, prognosis, and treatment response (Table 19.3). The subtypes listed focus on psycholinguistic features and are named for the areas that are most problematic (Table 19.4) (Rapin 1996).

Articulation and expressive fluency disorders Pure articulation disorders Articulatory skills improve with age and, as with language development, the normal range is considerable (Morley 1965). Most children (70%) speak intelligibly by age 2 years. Unintelligible speech is the exception at age 3 years (15%). However, almost 50% of children at age 4 years still have articulation difficulties. A common problem is defective use of “th” or “r.” At kindergarten entry, one-third of children still have minor to mild articulation defects, but speech is unintelligible in less than 5%.

Stuttering and cluttering Stuttering is a disorder in the rhythms of speech. The speaker knows what to say, but is unable to say it because of an involuntary, repetitive prolongation or cessation of a sound. Some degree of dysfluency is common as language skills evolve during the preschool years, particularly as mean length of utterance (MLU) reaches 6–8 words between ages 3 and 4 years. However, stuttering, in contrast to developmental dysfluency, is probably a linguistic disorder (errors occur at grammatically important points in the sentence), as well as a motor planning problem (Logan 2003). Stuttering is often a genetic trait. Although the cause of developmental stuttering is unknown, the main theories are anomalous dominance and abnormalities of interhemispheric connections (Foundas et al. 2001). Stuttering occurs more frequently in children with other DLDs and with mental retardation (Gordon 2002). Cluttering, by contrast, as seen in Fragile X syndrome, is characterized by incomplete sentences and short outbursts of two- to three-word phrases, along with echolalia, palilalia (compulsive repetition reiterated with increasing rapidity and decreasing volume), perseveration, poor articulation, and stuttering.

Phonological programming disorder Children with the phonological programming disorder have fluent speech, and MLU approaches normal. Despite initially poor intelligibility, serviceable speech is expected. Language comprehension is relatively preserved. Most such children show delayed rather than deviant phonology, and improve 1 and 7 years after their preschool diagnosis. It is debatable whether this disorder is a severe articulation problem or a mild form of verbal dyspraxia (Shriberg 1994). The fact that patients with the phonological programming

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TABLE 19.3

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Subtypes of Developmental Language Disorders

Comprehension – receptive Phonology Syntax Semantics Production – expressive Semantics (lexical) Syntax Phonology Fluency Pragmatics

Verbal auditory agnosia

Phonological syntactic

↓ ↓↓ ↓↓

↓ ↓ ?

↓↓ ↓↓ ↓↓ ↓↓ Nl or ↓

↓ ↓ ↓ ↓ Nl or ↓

Verbal dyspraxia

? ↓ Nl or ↓

Phonological programming

Semantic pragmatic

Lexical syntactic

↓↓

↓

↓↓

Nl or ↓ ↓

Nl or ↓ or ↓ ↓↓

↓ ↓

? ↓ Nl or ↓

TABLE 19.4

Nl = normal. Source: modified from Rapin I: Preschool children with inadequate communication. London, 1996, MacKeith Press.

Glossary of Linguistic Terms Functors

The small words of the language like prepositions, conjunctions, etc. These are also called closed class words because they are limited in number. Lexicon The words in a language, the dictionary of word meanings. Mean length Number of morphemes per utterance. of utterance Morpheme The smallest meaningful unit in a language occurring either in a word or as a word. A compound word like compounding is made up of three morphemes, com*pound*ing. Prefixes, suffixes and inflected endings like*ed, *s, and *ly are also morphemes. Phoneme A distinct sound unit in a language. In English there are 46: 9 vowels and 37 consonants. Phonology The rules a speaker follows when combining speech sounds. Pragmatics The communicative intent of speech rather than its content, e.g. asking a question at the right time and in the right way. Prosody The melody of language, the tone of voice used to ask questions, for example, or show emotion. Semantics The meaning of words, their definition. Syntax The grammar of a language, the acceptable relationship between words in a sentence.

and some with signs (Pearce et al. 1987). An adult aphasia equivalent does not exist.

Verbal dyspraxia The speech of children with verbal dyspraxia (Nevo et al. 2001), also called dilapidated speech (Critchley 1970; Ferry et al. 1975), is extremely dysfluent. Utterances are short and laboriously produced. Phonology is impaired and includes inconsistent omissions, substitutions, and distortions of speech sounds. Syntactic skills are difficult to assess in the face of dysfluency. Language comprehension is relatively preserved. Many require speech and language therapy for prolonged periods. Children with verbal dyspraxia who do not develop intelligible speech by age 6 years are unlikely to acquire it later. The frequency with which nonverbal praxis deficits – buccal-lingual dyspraxia (e.g. positioning muscles of articulation) and generalized dyspraxia or clumsiness – coexist with verbal dyspraxia is unknown (Bishop 2002). The presence of a more diffuse disorder of praxis has significant therapeutic implications because children with verbal dyspraxia may depend on signing and writing skills for communication (Shriberg et al. 1997). Although often accompanied by more neurological symptoms, verbal dyspraxia most resembles the adult aphasia called aphemia.

Disorders of receptive and expressive language Phonological syntactic syndrome

disorder have more difficulty learning manual signs than controls supports an association with dyspraxia (Bradford & Dodd 1994; Bishop 2002a). A preremediation paired associate learning task may help select the best remediation method for each child because some are better with symbols

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Phonological syntactic syndrome (also called mixed receptive expressive disorder, expressive disorder, and nonspecific formulation-repetition deficit) is probably the most common DLD (Wilson & Risucci 1986; Korkman & Hakkinen-Rihu 1994). The phonological disturbances consist of omissions, substitutions, and distortions of consonants

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and consonant clusters in all word positions. The production of unpredictable and unrecognizable sounds makes speech impossible to understand. The syntactic impairment consists of a lack of functors and an absence of appropriate inflected endings. Grammatical forms are atypical not just delayed. Whereas a normal young child may say “baby cry” or “a baby crying,” children with phonological syntactic syndrome produce deviant constructions, such as “the baby is cry” (Van der Lely 1997; Bishop et al. 2000). Telegraphic speech is common. The presence or absence of difficulties in other language areas is variable. Overall, comprehension is relatively, although not wholly, spared. Semantic skills tend to be intact. Repetition, pragmatics, and prosody may be normal. Autistic children with this DLD subtype produce a significant amount of jargon. Neurological dysfunction is especially frequent in this developmental language disorder subtype. Feeding problems due to sucking, swallowing, and chewing difficulties are common, and drooling is often persistent. The neurological examination may reveal signs of pseudobulbar palsy, oromotor apraxia, hypertonia and incoordination. This DLD most resembles Broca’s aphasia in adults.

Verbal auditory agnosia Despite intact hearing, meaningful language is not understood by children with verbal auditory agnosia (VAA) (also called generalized low performance and global dysfunction). VAA may occur on a developmental basis, and as an acquired disorder, the Landau–Kleffner syndrome (Tuchman 1997; Galanopoulou et al. 2002). VAA is common in low functioning children with autism. VAA best supports the theory that DLDs result from difficulty with processing basic sensory information entering the nervous system in rapid succession (Bishop et al. 1999; Tallal & Benasich 2002). The outcome from the developmental form of VAA is generally poor. The outcome from the acquired disorder is somewhat better with approximately one-third of patients having a good outcome. VAA is seen in adults with acquired bitemporal lesions.

Higher-order language disorders Semantic pragmatic syndrome Children with the semantic pragmatic syndrome (also called repetition strength and comprehension deficit, language without cognition, and cocktail party syndrome in children with hydrocephalus usually with accompanying meningomyelocoeles) are fluent speakers, even verbose. Vocabulary is often large and somewhat formal. Parents are often encouraged by the child’s sizable vocabulary only to find later that the verbosity did not indicate superior cognitive skills. Many children have trouble with meaningful conversation and informative exchange of ideas. They talk to talk. Pragmatic skills are lacking. Children with semantic

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pragmatic syndrome often show deficits in prosody; their speech has a monotonous, mechanical, or sing-song quality. They cannot convey the additional pragmatic intentions that prosody affords, such as speaking with the proper emotion or indicating by tone of voice that they are asking a question. Comprehension may be impaired. Phonological and syntactic skills are generally intact (Rapin 1996). Semantic pragmatic syndrome is often seen in higher-functioning autistic children (Bishop 2002b; Bishop & Norbury 2002). Repetition strength in the setting of fluent speech with impaired comprehension characterizes the adult aphasia syndrome of transcortical sensory aphasia. Difficulties with prosody and pragmatics suggest right hemisphere dysfunction.

Lexical syntactic syndrome The lexical syntactic syndrome is relatively common, occurring in approximately 15% of children with DLD (Wolfus et al. 1980). Speech is generally dysfluent, even to the point of stuttering, because of word-finding difficulties and poor syntactic skills, with many hesitancies and false starts. Both literal and semantic paraphasias are common. Syntax is immature, not deviant. Phonology is spared, and therefore speech is intelligible. Repetition is generally better than spontaneous speech. In conversation, idiom use is better than spontaneous speech. Pragmatics may be impaired, particularly when this syndrome occurs in autistic children. Comprehension is generally acceptable, although comprehension that requires processing highly complex syntactic utterances may be deficient. No clear counterpart for the lexical syntactic syndrome exists among the acquired aphasias of adulthood, despite overlap with anomic aphasia, conduction aphasia, and transcortical aphasia.

Outcome of developmental language disorders The occurrence of a DLD, even when it appears to resolve, may affect later social emotional adjustment, educational achievement, and vocational choices. Short and long-term behavioral, social-emotional and psychiatric problems are associated with early language problems (Irwin et al. 2002; Jerome et al. 2002; Brownlie et al. 2004; Clegg et al. 2005). In school-age children with speech and language problems, the frequency of attention deficit hyperactivity disorder (ADHD) ranges from 30% to 49%, and the frequency of behavioral and emotional problems ranges from 10% to 22% to 50% (Toppleberg & Shapiro 2000; Beitchman et al. 2001). The biggest differentiating factor between those with and without a psychiatric diagnosis is the degree of language deficit. In the National Collaborative Perinatal Project (Lassman et al. 1980) children with receptive and expressive language problems at age 3 years were at significantly increased risk for one of the three study defined “minimal brain dysfunction”

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Workup The workup of the child with a developmental language disorder must include an assessment of hearing and an assessment for overall level of cognitive functioning. An electroencephalogram (EEG), including a sleep record, may be useful in children with isolated language delay to exclude subclinical seizures (Tuchman 1997). Overnight sleep recordings increase the yield considerably. Major risk factors for epilepsy and epileptiform EEGs are mental retardation, cerebral palsy, language regression, and the verbal auditory agnosia language disorder subtype. Perisylvian abnormalities associated with language disorders have been reported, particularly in verbal dyspraxia and the phonological syntactic syndromes. Complete opercular agenesis has been reported in association with suprabulbar palsy (Worster–Drought syndrome). Polymicrogyria has also been reported in the perisylvian region. Patients with the most extensive disease have the greatest language impairments, while those with posterior parietal polymicrogyria have milder symptoms (Nevo et al. 2001; Alarcon et al. 2002; Guerreiro et al. 2002). Semantic pragmatic syndrome has been reported in patients with agenesis of the corpus callosum and with hydrocephalus, which supports a possible localization in the subcortex and its connections or a disconnection effect. Some children and adults with DLD (as well as relatives of DLD probands) do not have the typical planum temporale and frontal cortex asymmetry patterns (De Fosse et al. 2004; Herbert et al. 2005). The absence of the typical planum asymmetry may be the result of aberrant neurogenesis, which leads to reduced cell development in the perisylvian regions or atypical patterns of cell death (Semrud-Clikeman 1997; Herbert et al. 2005). Callosal size may be decreased in some children with DLD (Preis et al. 2000). An extra sulcus in the inferior frontal gyrus was statistically associated with a history of DLD (Clark & Plante 1998) in a group of 41 neu-

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rologically normal adults. In one recent series one-third of 35 children with DLD had nonspecific MRI abnormalities including ventricular enlargement (5), central volume loss (3), and white matter abnormalities (4) (Trauner et al. 2000). Rare reports document right hemisphere abnormalities in the DLD child suggestive of a right hemisphere contribution to language acquisition (Plante et al. 2001). In the KE family (see above) the caudate nucleus and inferior frontal gyrus are reduced in size bilaterally, while the left frontal opercular region (pars triangularis and anterior insular cortex) and the putamen bilaterally have a greater volume of gray matter (Watkins et al. 2002b; Vargha-Khadem et al. 2005). Recent functional imaging show more posterior and more

Developmental Language Disorders • If in any doubt, assess hearing. Missing a hearing loss is missing a potentially treatable cause of DLD. • In spite of individual variability, failure to develop normal expressive language skills by age 3 years is pathologic. • Between 18 months and 3 years, those children with both expressive and receptive delays are more likely to ultimately be diagnosed with a developmental language disorder than those with only expressive delays, who may catch up. Erring on the side of overdiagnosis in the young child with transient institution of unecessary therapy is better than underdiagnosis. • An EEG is a useful screening procedure in children with DLDs, because treatment of an underlying paroxysmal disorder may improve language function. • Failure to develop intelligible speech by age 6 years is a poor prognosis sign in verbal dyspraxia. • DLDs often diminish, but the basic deficit affects language-related academic skills, particularly reading. Suggesting to the parents that they are merely an element of immaturity is generally inaccurate. • Regression of articulation skills during stress and excitement is common during the preschool years. Artiulation in the office may be less adept than is actually the case. • Beware of the child whose conversation is fluent but lacking in content. His parents may be the most resistant to accepting the diagnosis of DLD. • The child with developmental language problems is at risk for emotional difficulties and should be monitored for possible intervention. • The child who appears to “talk to talk” rather than to communicate and whose head is large ought to be assessed for hydrocephalus, in view of the frequency of the cocktail party syndrome in this disorder. • Later reading problems are common in the child with a DLD. Expectant assessment should be performed if there is any hint of reading readiness difficulties.

PEARLS & PERILS

syndromes – hyperkinesis, soft signs, learning disabilities – at age 7 years (Nichols & Chen 1981). In preschool children with DLD, nonverbal intelligence is the best single predictor of overall long-term outcome and severity of language problems is the best predictor of later language skills. Preschool language skills are the best single predictor of later reading ability and disability (Snowling et al. 2000). Even children with good receptive skills who speak late may be at risk for continuing subtle language difficulties and later reading and language-based academic difficulties (Rescorla 2002), including writing (Bishop & Clarkson 2003). Thus, both screening and follow-up studies of children with DLD are important. Persisting, although often subtle, language problems in adolescence and beyond have been reported in as many as 90% (Conti-Ramsden et al. 2001; Rescorla 2002). Communication problems, again often subtle, may continue into adult life in 50–70% (Young et al. 2002).

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bilateral activation in the family members with the FOXP2 gene mutation (Liegeois et al. 2003). An insufficient dosage of critical forkhead transcription factors during embryogenesis may lead to maldevelopment of brain speech and language regions of the brain (Lai et al. 2001). Metabolic imaging suggests abnormalities in the left temporal region and may vary by DLD subtype. Some children with DLD may be right hemisphere language dominant (Bernat & Altman 2003). Despite these research results there is no reason to image the typical DLD child in clinical practice, unless focal abnormalities are suspected from the history, e.g. a nonfamilial, early declaring left hander or on examination.

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CONSIDER CONSULTATION WHEN… • Table 19.2 warning signs are present a consultation with a speech and language pathologist is indicated.

contrast to the other approaches, which are deficit centered, the neuropsychological approach defines and uses children’s strengths to remediate their weaknesses; it also takes into account the child’s temperament and neurodevelopmental status to determine his learning styles and develop optimal methods for remediating targeted deficits. To date no formal study has compared the efficacy of these approaches.

Treatment Whether intensive early therapy changes the long-term outcome to an appreciable degree remains to be determined (Forrest 2002). Treatment of language disordered preschool children varies according to the kind of language impairment as well as its degree of severity. Children with a moderate to severe language impairment, who suffer associated social, cognitive and behavioral difficulties are best treated in a therapeutic nursery. Mildly impaired children can often do well in a regular nursery program combined with individual speech-language therapy. Play materials are used by the speech-language therapist with the preschool child in a directive way. Every activity becomes a language activity in that the child’s actions are given words by the therapist. Play activities are also a helpful way to engage children with severe expressive difficulties. Pleasurable activities involving the mouth such as blowing bubbles or initiating mouth movements and sounds as well as nonvocal imitative games such as hand clapping have been found to foster language acquisition. Formal language work typically begins at the phonologic level involving repetition of sounds and sound sequences to encourage fluency. Treatment of receptive disorders often necessitates the use of visual modalities such as signs and gesture. Less severe disorders of comprehension are addressed through practiced structuring of conversations with the child. Developmental language disordered children with severe comprehension deficits rarely progress in treatment as well as children with primary expressive disorders. Another tact for language remediation is driven by different theoretical frameworks (Dunn 1997). One approach involves identifying specific linguistic deficits (e.g. problems with morphology) and targeting them for remediation. Another involves identifying specific DLD subtypes and addressing them in remediation. This approach means, for example, that a child’s level of comprehension is taken into account in selecting a strategy for improving language production. A third approach aims to detect a core cognitive processing deficit to be targeted for intervention. A fourth approach emphasizes the neuropsychological profile. In

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Autistic spectrum disorders General discussion The triad of impaired sociability, impaired verbal and nonverbal communication skills, and restricted activities and interests, all of early onset, are diagnostic of the autistic spectrum disorders (ASD) (Rapin 1996; 2002) (Table 19.5, Fig. 19.1). The presence or absence of social disabilities distinguishes developmental language disorders (DLD) from ASD. IQ, language and social normalcy distinguish nonautistic mental retardation (NAMR) from DLD and ASD (Fig. 19.2). The range of disabilities seen among children in the autistic spectrum is considerable (Constantino et al. 2004). Asperger’s syndrome (Table 19.6) represents the high-functioning end of the ASDs (Klin et al. 2001; Gillberg 2002; Frith 2004). Paralinguistic rather than linguistic problems are characteristic (Bishop 2002b). The frequency of ASD ranges from 0.4 to 70.0 per 10 000 children, depending on how the disorder is defined (Gillberg & Coleman 2000; Honda et al. 2005) (Table 19.7). The reported increase in incidence of the ASDs most likely reflects an increasing awareness of the different possible manifestations of the disorder (Wing & Potter 2002; Fombonne & Tidmarsh 2003), rather than a true increase in the incidence of ASDs. A hereditary basis is probable in many cases because of (1) a high concordance in monozygotic twins (90%), (2) an approximately 5% increased risk for dizygotic twins and siblings, (3) a broader autistic phenotype in the families of probands (Piven & Palmer 1999), and (4) an association with several genetic disorders (Spencer 2001). The dramatically diminished risk in relatives who share 50% versus 100% of their DNA is most consistent with an oligogenic inheritance pattern, where more than 2 and as many as 100 genetic variants may contribute to susceptibility to developing autism. Each gene may make a different contribution to the disorder, with gene A more important for the development of repetitive stereotyped behaviors and gene B more important for language acquisition (Alarcon et al. 2002; Veenstra-Vanderweele & Cook 2003). Chromosomal abnormalities have been

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TABLE 19.5

Social disability

Criteria for Diagnosis of Autism Six items or more from 1, 2, and 3, with at least 2 from 1, and one each from 2 and 3. Impairment in social interaction • Impaired use of nonverbal behaviors (eye gaze, facial expression) • Poor peer relationships • Impaired sharing of enjoyment, interests or achievements with others • Lack of social or emotional reciprocity

DLD IQ may vary

IQ>80, Language > 1S.D. below

ASD MR

IQ