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Autistic spectrum disorders in children PDF

336 Pages·2004·2.005 MB·English
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Autistic Spectrum Disorders in Children edited by Vidya Bhushan Gupta New York Medical College and Columbia University New York, New York, U.S.A. MARCEL MARCEDLE KKERIN,C . NEWY ORK * BASEL Copyright © 2004 Marcel Dekker, Inc. Althoughgreatcarehasbeentakentoprovideaccurateandcurrentinformation,neither theauthor(s)northepublisher,noranyoneelseassociatedwiththispublication,shallbe liableforanyloss,damage,orliabilitydirectlyorindirectlycausedorallegedtobe causedbythisbook.Thematerialcontainedhereinisnotintendedtoprovidespecific adviceorrecommendationsforanyspecificsituation. Trademarknotice:Productorcorporatenamesmaybetrademarksorregisteredtrade- marksandareusedonlyforidentificationandexplanationwithoutintenttoinfringe. LibraryofCongressCataloging-in-PublicationData AcatalogrecordforthisbookisavailablefromtheLibraryofCongress. ISBN:0-8247-5061-6 Thisbookisprintedonacid-freepaper. Headquarters MarcelDekker,Inc.,270MadisonAvenue,NewYork,NY10016,U.S.A. tel:212-696-9000;fax:212-685-4540 DistributionandCustomerService MarcelDekker,Inc.,CimarronRoad,Monticello,NewYork12701,U.S.A. tel:800-228-1160;fax:845-796-1772 EasternHemisphereDistribution MarcelDekkerAG,Hutgasse4,Postfach812,CH-4001Basel,Switzerland tel:41-61-260-6300;fax:41-61-260-6333 WorldWideWeb http://www.dekker.com The publisher offers discounts on this book when ordered in bulk quantities. For more information, write to Special Sales=Professional Marketing at the headquarters address above. Copyright ## 2004 by Marcel Dekker, Inc. All Rights Reserved. Neither this book nor any part may be reproduced or transmitted in any form or by any means,electronicormechanical,includingphotocopying,microfilming,andrecording,or by any information storage and retrieval system, without permission in writing from the publisher. Current printing (last digit): 10 9 8 7 6 5 4 3 2 1 PRINTED IN THE UNITED STATES OFAMERICA Copyright © 2004 Marcel Dekker, Inc. PEDIATRIC HABILITATION Series Editor ALFRED L. SCHEWER Joan and Sanford 1. Weill Medical College Cornell Universdy New Yo&, New York 1. Prevention of Mental Retardation and Other Developmental Disabilities, edited by Michael K. McCormack 2. Developmental Disabilities: Management Through Nutrition and Medica- tion, Eric Denhoff and Steven Feldman 3. Early Diagnosis and Therapy in Cerebral Palsy, Alfred L. Scherzer and Ingrid Tscharnuter 4. Parenting Children with Disabilities: A Professional Source for Physicians and Guide for Parents, Peggy Muller Miezio 5. Visual Disorders in ths Handicapped Child, John L. Goble 6. Early Diagnosis and Therapy in Cerebral Palsy: A Primer on Infant Develop- mental Problems, Second Edition, Revised and Expanded, Alfred L. Scher- zer and Ingrid Tscharnuter 7. Attention Deficit Disorders and Hyperactivity in Children: Early Diagnosis and Intervention, edited by Pasquale J. Accardo, Thomas A. Blondis, and Barbara Y. Whitman 8. Medical Care in Down Syndrome: A Preventive Medicine Approach, Paul T. Rogers and Mary Coleman 9. Manual of Developmental and Behavioral Problems in Children, Vidya Bhushan Gupta 10. Attention Deficits and Hyperactivity in Children and Adults: Diagnosis Treatment Management, Second Edition, Revised and Expanded, edited by Pasquale J. Accardo, Thomas A. Blondis, Barbara Y. Whitman, and Mark A. Stein 11. Early Diagnosis and lnterventional Therapy in Cerebral Palsy: An Inter- disciplinary Approach, Third Edition, edited by Alfred L. Scherzer 12. Autistic Spectrum Disorders in Children, edited by Vidya Bhushan Gupta ADDITIONAL VOLUMES IN PREPARA TION Copyright © 2004 Marcel Dekker, Inc. About the Editor VIDYA BHUSHAN GUPTA, M.D., M.P.H. is Associate Professor of Clinical Pediatrics at New York Medical College, New York, and Associate Research Scientist at the GertrudeH.SergievskyCenter,ColumbiaUniversity,NewYork,NewYork. Dr.Guptais theauthor,coauthor,editor,orcoeditorofthreebooks,fourbookchapters,andnumerous scholarly articles published in journals such as Pediatrics, the Journal of Clinical Epidemiology, and Clinical Pediatrics. He is a Fellow of the American Academy of Pediatrics and has board certifications from the American Board of Pediatrics, Neurodevelopmental Disabilities, and Developmental–Behavioral Pediatrics. An invited experttothe2003AmericanAcademyofPediatricscommitteeforearlyinterventionand autism and the 2004 Pediatric Subspecialty Care/Medical Home panel organized by the U.S.DepartmentofHealthandHumanServices,Dr.GuptareceivedtheM.B.B.S.(1971) andM.D.(1976)degreesfromtheUniversityofDelhi,NewDelhi,India,andtheM.P.H. degree (1989) from Columbia University, New York, New York. Copyright © 2004 Marcel Dekker, Inc. Foreword For over 25 years, the Pediatric Habilitation series has brought to readers the latest information and significant emerging clinical approaches in the field of developmental disabilities in children. Focus has always been on those specific conditions demanding the greatest concern at the time. And developments have been regularly updated with neweditionswhen there has been rapid change, as in the areas of cerebral palsy and attention deficit disorders. Over this period of time there has been considerable shift in the disabilities encountered by health professionals, from the high-morbidity, low-frequency conditions, such as cerebral palsy and neural tube defects, to the low-morbidity, high-frequency attention deficit disorders, learning disabilities, and, more re- cently,theautistic spectrumdisorders.Thesechangesreflectadvances inobstetric and neonatal care and consequences of genetic, environmental, and social factors. In addition, developmental disabilities in children are now seen as spectrum disorders that usually occur with closely related comorbid conditions, rather than as single and uniquely diagnosed entities that stand alone. Since the inception of this series, nowhere has change been more striking and, indeed, more stressful than in the area of autistic spectrum disorders. Emerging data suggest a marked increase in incidence and prevalence, with a corresponding demand for accurate diagnosis and more effective long-term management. This comes at a time when accepted etiology of the autistic spec- trum disorders has shifted dramatically from a psychiatric to a neurodevelop- mental focus. Moreover, this field has been virtually flooded with literature Copyright © 2004 Marcel Dekker, Inc. dealingwithetiology,diagnosis,therapyservices,treatment,andpharmacological approaches. In addition, there has been a plethora of often confusing and conflicting claims concerning complementary and alternative medical treatments (CAM), to which both the health provider and lay public are constantly exposed. Finally, much more frequent literature reference is made to the familyof the child with autistic spectrum disorder than in all other developmental disabilities. Yet neither the impact of this diagnosis on family functioning nor the unique role of the family in providing optimum care has been well delineated. To provide for a comprehensive, multidisciplinary text that incorporates the emerging issues in this field, Autistic Spectrum Disorders in Children has been developed by a group of outstanding authorities and edited by Dr. Vidya Bhushan Gupta, who has made major contributions to thework. Like all the other books in the Pediatric Habilitation series, it is designed for a wide spectrum of providers, emphasizes the habilitation approach to care and management, and can lead to a better understanding of where further research is needed. It will clearly haveanimportantroleinhelpingtoclarifyandunifycurrentunderstandingofthe autistic spectrum disorders, and it is hoped this will result in a significant impact on clinical practice as well. Alfred L. Scherzer Copyright © 2004 Marcel Dekker, Inc. Preface Onlyafew decades ago, autismwas a medical curiosity,conjuring upvisionsof a child who walks on his toes like a ballerina, staring vacantly into space but is capable of performing complex mathematical operations at the speed of light. Its prevalence was reported to range from 0.7 to 4.5=10,000 children. Today, autism is being diagnosed in 5–6 of 1000 children and an epidemic is suspected. A debate is raging as towhether the prevalence of autism has truly increased or data merely reflect heightened awareness of the condition. It is nowagreed that autism occurs along a spectrum, with only a few children manifesting the full range of symptoms. Inclusion of milder andatypical variants of autism, such as Asperger’s and Rett’s syndromes, under the rubric of pervasive developmental disorders, has also contributed to the increasing prevalence of autism. Nosology of the syn- drome is still in flux, with terms such as autism, autistic spectrum disorder, pervasive developmental disorder, and mutlisystem disorder in vogue. Our thinking about the origins of autism has undergone radical change. Long gone are Kannerian ideas of refrigerated mothers. Instead, autism is now regarded as a neurobiological disorder. However, as with any common disorder that does not havean incontrovertible candidate as its cause, autism has become a fertile ground for theories. There are theories about what part of an autistic brain is abnormal, the nature of the abnormality, and how the abnormality translates into abnormal behavior. No single area of the brain has been found to be consistently abnormal in children with autism, but abnormalities have been noticed in the cerebellum and the limbic system. The nature of the defect is Copyright © 2004 Marcel Dekker, Inc. uncertain—findings include fewer neurons, excessive but smaller neurons, and decreased dendritic branching. It is unclear as to how abnormal structure translates into abnormal behavior, through serotonin or some other neurotrans- mitter. What causes these neurobiological abnormalities? Is it an abnormal gene or an infectious, toxic, or immunological agent? Perhaps both interact; a toxic or infectious agent unmasks vulnerable genes, which then cause abnormal devel- opment of certain areas of the brain. This neurobiological abnormality, in turn, translates into abnormal behavior through abnormal neurotransmitter or electric discharge through critical neural networks. Perhaps many pathways lead inde- pendently or interactively to the constellation of symptoms that we call autism. While many of these theories are grounded in valid research, such as the cerebellar and serotonin theories, many are perpetuated by folklore and special interest groups, such as the MMR vaccination theory and the ‘‘yeast connection.’’ Management ofautism, too, has undergone sweeping change in the last few decades. We have come a long way from institutions such as Vineland and Willowbrook, where children ‘‘who did not grow’’ used to be incarcerated for a lifetime. The emphasis today is on early detection and intervention. A substantial body of literature now suggests that if intensive interventions are started early in children with autism, many of them will be able to lead functional lives in the mainstream. Therefore, platitudes such as ‘‘he will outgrow this, he is just a little shy, give him some time,’’ have given way to early intervention to improve the social and communication skills of these children. Better pharmacological agents are available to address maladaptive behaviors such as inattention, compulsive actions, and aggression. There are many unanswered questions in the arena of autism and pervasive developmental disorders. How can the frontline clinicians detect the condition early? Is eliciting parental concerns or making informal observations during clinical encounters sufficient? Are generic developmental screens effective in diagnosing autism or should autism-specific screening tools such as CHAT be used? How should autism be confirmed once it is suspected? Few conditions in medicine can be pigeonholed into one discipline today. Autism sits on the mind– body cusp, a neurobiological disorder with behavioral symptomatology. Which professionals are competent to make the diagnosis—pediatricians, psychologists, neurologists, or psychiatrists—and which evaluations should be performed to develop a comprehensive management plan? As a corollary to the myriad of theories about the causation of autism, a myriad of cures for autism are being promoted by both conventional and alternative schools of medicine. The purveyors of some of the unsubstantiated therapies are exploiting the desperation of parents for selfish ends. A quantum change has occurred in physician–patient relations and the health care industry. Parents today are in the driver’s seat directing the manage- ment of their child, instead of sitting in the backseat taking orders. While they Copyright © 2004 Marcel Dekker, Inc. demand that providers use the newer genetic and neuroimaging tools to diagnose and manage their children, the managed care organizations curtail their use to contain costs. Both the consumers and payers demand of the providers that they practice medicine according to the evidence-based guidelines developed by academic societies and use outcome research to guide their therapeutic decisions. The clinicians are caught in the crossfire of parental demand and payer oversight. The idea for this book emerged in this radically changed environment. Autism in this book has been approached from a broad, multidisciplinary perspective, because many disciplines interact in the diagnosis and management of autism. Attempting to bridge the gap between science and strategy, some contributors have presented in depth the relevant scientific research available on the subject, while others have focused on practical guidelines to professionals to diagnose and manage children with autistic spectrum disorders in the context of currentscientific research and thehealthcare climate.Wehope thatthis book will serve both the inquisitive, who want to explore the complex maze of autism, and the practical, who in the trenches provide services to children with autistic spectrum disorder. I want to thank Dr. Alfred Scherzer, who inspired me to undertake this monumental task, and Dr. Raksha Gupta, my wife, who put up with my compulsive preoccupation with this book to the exclusion of almost everything else at home. I would also like to thank Moraima Suarez at Marcel Dekker for working so diligently with me. Vidya Bhushan Gupta Copyright © 2004 Marcel Dekker, Inc. Contents Foreword AlfredL.Scherzer Preface Contributors 1.History,Definition,andClassificationofAutisticSpectrum Disorders Vidya Bhushan Gupta 2.TheEpidemiologyofAutismandAutismSpectrumDisorders Tanya Karapurkar, Nora L. Lee, Laura Kresch Curran, Craig J. Newschaffer, and Marshalyn Yeargin-Allsopp 3.EtiologyofAutism Vidya Bhushan Gupta 4.NeurologicalBasisofAutism Vidya Bhushan Gupta 5.EarlyClinicalCharacteristicsofChildrenwithAutism Chris Plauche´ Johnson 6.ScreeningandDiagnosisforAutisticSpectrumDisorders Pasquale J. Accardo Copyright © 2004 Marcel Dekker, Inc.

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