Libro de autismo

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Libro de autismo

  1. 1. Handbook of Autism andPervasive Developmental DisordersThird EditionVolume 1: Diagnosis, Development, Neurobiology, and BehaviorEdited byFred R. VolkmarRhea PaulAmi KlinDonald CohenJOHN WILEY & SONS, INC.
  2. 2. HANDBOOK OF AUTISM ANDPERVASIVE DEVELOPMENTAL DISORDERS
  3. 3. Handbook of Autism andPervasive Developmental DisordersThird EditionVolume 1: Diagnosis, Development, Neurobiology, and BehaviorEdited byFred R. VolkmarRhea PaulAmi KlinDonald CohenJOHN WILEY & SONS, INC.
  4. 4. ➇This book is printed on acid-free paper.Copyright © 2005 by John Wiley & Sons, Inc. All rights reserved.Published by John Wiley & Sons, Inc., Hoboken, New Jersey.Published simultaneously in Canada.MCMI-III is a trademark of DICANDRIEN, Inc.No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by anymeans, electronic, mechanical, photocopying, recording, scanning, or otherwise, except as permitted under Section107 or 108 of the 1976 United States Copyright Act, without either the prior written permission of the Publisher,or authorization through payment of the appropriate per-copy fee to the Copyright Clearance Center, Inc., 222Rosewood Drive, Danvers, MA 01923, (978) 750-8400, fax (978) 646-8600, or on the web at www.copyright.com.Requests to the Publisher for permission should be addressed to the Permissions Department, John Wiley & Sons,Inc., 111 River Street, Hoboken, NJ 07030, (201) 748-6011, fax (201) 748-6008.Limit of Liability/ Disclaimer of Warranty: While the publisher and author have used their best efforts inpreparing this book, they make no representations or warranties with respect to the accuracy or completeness ofthe contents of this book and specifically disclaim any implied warranties of merchantability or fitness for aparticular purpose. No warranty may be created or extended by sales representatives or written sales materials.The advice and strategies contained herein may not be suitable for your situation. You should consult with aprofessional where appropriate. Neither the publisher nor author shall be liable for any loss of profit or any othercommercial damages, including but not limited to special, incidental, consequential, or other damages.This publication is designed to provide accurate and authoritative information in regard to the subject mattercovered. It is sold with the understanding that the publisher is not engaged in rendering professional services. Iflegal, accounting, medical, psychological or any other expert assistance is required, the services of a competentprofessional person should be sought.Designations used by companies to distinguish their products are often claimed as trademarks. In all instanceswhere John Wiley & Sons, Inc. is aware of a claim, the product names appear in initial capital or all capitalletters. Readers, however, should contact the appropriate companies for more complete information regardingtrademarks and registration.For general information on our other products and services please contact our Customer Care Departmentwithin the United States at (800) 762-2974, outside the United States at (317) 572-3993 or fax (317) 572-4002.Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not beavailable in electronic books. For more information about Wiley products, visit our web site at www.wiley.com.Library of Congress Cataloging-in-Publication Data:Handbook of autism and pervasive developmental disorders / edited by Fred R. Volkmar . . . [et al.].—3rd ed. p. cm. Includes bibliographical references and index. Contents: V. 1. Diagnosis, development, neurobiology, and behavior—v. 2. Assessment, interventions, and policy. ISBN 0-471-71696-0 (cloth : v. 1)—ISBN 0-471-71697-9 (cloth : v. 2)—ISBN 0-471-71698-7 (set) 1. Autism in children. 2. Developmental disabilities. 3. Autistic children—Services for. 4. Developmentally disabled children—Services for. I. Volkmar, Fred R. RJ506.A9H26 2005 618.92′85882—dc22 2004059091Printed in the United States of America.10 9 8 7 6 5 4 3 2 1
  5. 5. To the Memory of Donald CohenAt the time of his death, Donald Cohen was actively involved in the planning of thisedition of the Handbook. His untimely passing made it impossible for him to see thefinal product. We are deeply grateful to him for his thoughtful counsel and mentorshipas well as the truly impressive example he presented as a clinician-researcher. We hopethat this Handbook is a testament to his vision and a fitting tribute to his memory. Photo: Michael Marsland, Yale University
  6. 6. ContributorsM. CHERRO AGUERRE, MD MARGARET L. BAUMAN, MDUniversity of the Republic Harvard Medical SchoolSchool of Medicine Massachusetts HospitalCavia Boston, MassachusettsMontevideo, Uruguay JAC BILLINGTON, BSCGEORGE M. ANDERSON, PHD Autism Research CentreChild Study Center University of CambridgeYale University School of Medicine Cambridge, EnglandNew Haven, Connecticut JAMES W. BODFISH, PHDJOEL R. ARICK, PHD Department of PsychiatrySpecial Education University of North Carolina at Chapel HillPortland State University Chapel Hill, North CarolinaPortland, Oregon JOEL D. BREGMAN, MDCHRIS ASHWIN, PHD Center for AutismAutism Research Centre North Shore Long Island Jewish HealthUniversity of Cambridge SystemDepartments of Experimental Psychology Bethpage, New Yorkand PsychiatryCambridge, England COURTNEY BURNETTE, MS Department of PsychologyGRACE T. BARANEK, PHD, OTR/L University of MiamiDivision of Occupational Science Coral Gables, FloridaDepartment of Allied Health SciencesUniversity of North Carolina at Chapel Hill ALICE S. CARTER, PHDChapel Hill, North Carolina Department of Psychology University of Massachusetts BostonSIMON BARON-COHEN, PHD Boston, MassachusettsAutism Research CentreUniversity of Cambridge BHISMADEV CHAKRABARTI, BA, BSCDepartments of Experimental Psychology Autism Research Centreand Psychiatry University of CambridgeCambridge, England Cambridge, England vii
  7. 7. viii ContributorsKATARZYNA CHAWARSKA, PHD JOAQUIN FUENTES, MDChild Study Center GUATENAYale University School of Medicine San Sebastian, SpainNew Haven, ConnecticutSOO CHURL CHO, MD ANN FULLERTON, PHDDivision of Child and Adolescent Psychiatry Special EducationSeoul National University Hospital Portland State UniversitySeoul, Korea Portland, OregonIAN COOK, MDDepartment of Psychiatry and Behavioral JOHN GERDTZ, PHD Sciences Saint Mary’s College of CaliforniaDavid Geffen School of Medicine at UCLA Moraga, CaliforniaLos Angeles, CaliforniaELAINE E. COONROD, MSDepartment of Psychology and Human PETER F. GERHARDT, EDD Development Gerhardt Autism /Aspergers ConsultationVanderbilt University Group, LLCNashville, Tennessee Baltimore, MarylandCHRISTINA CORSELLO, PHDAutism and Communication Disorders Center TEMPLE GRANDIN, PHDUniversity of Michigan Department of Animal ScienceAnn Arbor, Michigan Colorado State University Fort Collins, ColoradoNAOMI ORNSTEIN DAVIS, MABoston University School of MedicineBoston, Massachusetts RICHARD GRIFFIN, BA Autism Research CentreRUTH FALCO, PHD University of CambridgeSpecial Education Cambridge, EnglandPortland State UniversityPortland, Oregon JAN S. HANDLEMAN, EDDPIERRE FERRARI, MD Douglas Developmental Disabilities CenterCentre Hospitalier Public De Psychiatrie Rutgers, The State University of New Jersey De L’Enfant Et De L’Adolescent New Brunswick, New JerseyFoundation ValleeGentilly Cedex, France FRANCESCA HAPPÉ, PHD (ALSO BA HONSPAULINE A. FILIPEK, MD OXFORD)Department of Pediatrics and Neurology Social, Genetic and DevelopmentalUniversity of California Psychiatry CentreIrvine College of Medicine Institute of PsychiatryOrange, California King’s College, LondonERIC FOMBONNE, MDMcGill University SANDRA L. HARRIS, PHDDepartment of Psychiatry at the Montreal Douglas Developmental Disabilities Center Children’s Hospital Rutgers, The State University of New JerseyMontreal, Quebec, Canada New Brunswick, New Jersey
  8. 8. Contributors ixPETER HOBSON, MD LINDA J. KUNCE, PHDThe Tavistock Clinic Department of PsychologyAdult Department Illinois Wesleyan UniversityLondon, United Kingdom Bloomington, IllinoisDAVID L. HOLMES, EDD AMY LAURENT, OTR/LLifespan Services, LLC Communication CrossroadsPrinceton, New Jersey North Kingstown, Rhode IslandYOSHIHIKO HOSHINO, MDDepartment of Neuropsychiatry JOHN LAWSON, PHDHikarigaoka Autism Research CentreFukushima-shi, Japan University of Cambridge Cambridge, EnglandPATRICIA HOWLIN, MDSt. George’s Hospital Medical School GABRIEL LEVI, MDCranmer Terrace Departimento di Scienze Neurologische eLondon, United Kingdom Psichiatriche dell’eta Evolutina Rome, ItalyBROOKE INGERSOLL, PHDOregon Institute on Disability and Development Child Development and JENNIFER A. LONCOLA, PHD Rehabilitation DePaul UniversityCenter Oregon Health and Science University School of EducationPortland, Oregon Chicago, IllinoisHEATHER K. JENNETT, MS LAUREN LOOS, MSDouglas Developmental Disabilities Center Autism SpecialistRutgers, The State University of New Jersey Oregon Department of EducationNew Brunswick, New Jersey Salem, OregonWARREN JONES, BA CATHERINE LORD, PHDChild Study Center UMACCYale University School of Medicine University of MichiganNew Haven, Connecticut Ann Arbor, MichiganAMI KLIN, PHD KATHERINE A. LOVELAND, PHDChild Study Center University of Texas Health Sciences CenterYale University School of Medicine at HoustonNew Haven, Connecticut Department of Psychiatry and Behavioral SciencesKATHY KOENIG , MSN Houston, TexasChild Study CenterYale University School of MedicineNew Haven, Connecticut MYRNA R. MANDLAWITZ, BA, MED, JD MRM AssociatesJASON B. KONIDARIS Washington, DCNorwalk, Connecticut WENDY D. MARANS, MS, CCC/SLPDAVID A. KRUG, PHD Child Study CenterSpecial Education Yale University School of MedicinePortland State University Private PracticePortland, Oregon New Haven, Connecticut
  9. 9. x ContributorsLEE M. MARCUS, PHD PETER MUNDY, PHDDivision TEACCH Department of PsychologyDepartment of Psychiatry University of MiamiUniversity of North Carolina School Coral Gables, Florida of MedicineChapel Hill, North Carolina J. GREGORY OLLEY, PHD Clinical Center for the Study of DevelopmentANDRES MARTIN, MD ´ and LearningChild Study Center University of North Carolina at Chapel HillYale University School of Medicine Chapel Hill, North CarolinaNew Haven, Connecticut SALLY OZONOFF, PHDMEGAN P. MARTINS, BA M.I.N.D. InstituteDouglas Developmental Disabilities Center U.C. Davis Medical CenterRutgers, The State University of New Jersey Sacramento, CaliforniaNew Brunswick, New Jersey VAYA PAPAGEORGIOU, MDGAIL G. MCGEE, PHD Medical Psychopedagogical Center ofEmory University School of Medicine North GreeceDepartment of Psychiatry and Behavioral Greece SciencesAtlanta, Georgia L. DIANE PARHAM, PHD, OTR, FAOTA Department of Occupational Science andJAMES MCPARTLAND, MS Occupational TherapyChild Study Center University of Southern CaliforniaYale University School of Medicine Los Angeles, CaliforniaNew Haven, Connecticut RHEA PAUL, PHD, CCC-SLPADRIENNE MERYL, BA Department of Communication DisordersM.I.N.D. Institute Southern Connecticut State UniversityU.C. Davis Medical Center New Haven, ConnecticutSacramento, California MICHAEL D. POWERS, MDGARY B. MESIBOV, PHD Center for Children with Special NeedsDivision TEACCH Glastonbury, ConnecticutUniversity of North Carolina at Chapel Hill andChapel Hill, North Carolina Child Study Center Yale University School of MedicineRICHARD MILLS, CQSW, RMPA, MA, FRSA New Haven, ConnecticutNAS Southern Region OfficeChurch House, Church Road BARRY M. PRIZANT, PHDFilton, United Kingdom Childhood Communication Services Cranston, Rhode IslandNANCY J. MINSHEW, MD andWestern Psychiatric Institute and Clinic Center for the Study of Human DevelopmentPittsburgh, Pennsylvania Brown University Providence, Rhode IslandMICHAEL J. MORRIER, MAEmory University School of Medicine SHERRI PROVENCAL, PHDDepartment of Psychiatry and Behavioral Department of Psychology Sciences University of UtahAtlanta, Georgia Salt Lake City, Utah
  10. 10. Contributors xiISABELLE RAPIN ERIC SCHOPLER, PHDAlbert Einstein College of Medicine Division TEACCHBronx, New York Department of Psychiatry University of North Carolina School of MedicineDIANA L. ROBINS, PHD Chapel Hill, North CarolinaDepartment of PsychologyGeorgia State University LAURA SCHREIBMAN, PHDAtlanta, Georgia Department of Psychology University of California, San DiegoSALLY J. ROGERS, PHD La Jolla, CaliforniaM.I.N.D. InstituteU.C. Davis Medical Center ROBERT T. SCHULTZ, PHDSacramento, California Child Study Center Yale University School of MedicineEMILY RUBIN, MS, CCC/SLP New Haven, ConnecticutCommunication CrossroadsCarmel, California VICTORIA SHEA, PHD Division TEACCH The University of North Carolina atMICHAEL RUTTER, CBE, MD, FRCP, Chapel Hill FRCPSYCH, FRS Chapel Hill, North CarolinaSocial, Genetic and Developmental Psychiatry CentreInstitute of Psychiatry MIKLE SOUTH, MSDeCrespigny Park Department of PsychologyDenmark Hill University of UtahKing’s College, London Salt Lake City, Utah VIRGINIA WALKER SPERRY, MAANDERS RYDELIUS, MD, PHD Child Study CenterKarolinska Institute Yale University School of MedicineDepartment of Woman and Child Health New Haven, ConnecticutChild and Adolescent Psychiatry UnitSt. Goran’s Children’s HospitalStockholm, Sweden MATTHEW STATE, MD, PHD Child Study Center Yale University School of MedicineCELINE SAULNIER, PHD New Haven, ConnecticutChild Study CenterYale University School of Medicine WENDY L. STONE, PHDNew Haven, Connecticut Vanderbilt Children’s Hospital Nashville, TennesseeLAWRENCE SCAHILL, MSN, PHDChild Study Center RUTH CHRIST SULLIVAN, PHDYale University School of Medicine Autism Services CenterNew Haven, Connecticut Huntington, West VirginiaMARTIN SCHMIDT, MD DEAN SUTHERLAND, MSKinder Jundenpsychiatrische Klinik Department of Speech TherapyZentralinstitute fur Seelische Genundheit Canterbury UniversityMannheim, Germany Christchurch, New Zealand
  11. 11. xii ContributorsJOHN A. SWEENEY, PHD ERYN Y. VAN ACKERUniversity of Pittsburgh College of EducationWestern Psychiatric Institute and Clinic University of Illinois at ChicagoPittsburgh, Pennsylvania Chicago, IllinoisPETER SZATMARI, MD RICHARD VAN ACKER, PHDMcMaster University College of EducationDepartment of Psychiatry University of Illinois at ChicagoFaculty Health Sciences Chicago, IllinoisHamilton, Ontario, Canada FRED R. VOLKMAR, MDHELEN TAGER-FLUSBERG, PHD Child Study CenterDepartment of Anatomy and Neurobiology Yale UniversityBoston University School of Medicine New Haven, ConnecticutBoston, Massachusetts HERMAN VAN ENGELAND, MDKUO-TAI TAO, MD Divisie Psychiatrie Kinder enDivision of Nanging JeugdpsychiatrieChild Mental Health Research Center Utrecht, The NetherlandsNanging, China SARA JANE WEBB, PHDBRUCE TONGE, MD Center for Human Development and DisabilityCentre for Developmental Psychiatry Autism Center Psychophysiology LaboratoriesMonash Medical Center University of WashingtonAustralia Seattle, WashingtonKENNETH E. TOWBIN, MD AMY M. WETHERBY, PHDMood and Anxiety Disorders Program Department of Communication DisordersNational Institute of Mental Health Executive Director, Center for Autism andBethesda, Maryland Related Disorders Florida State UniversityKATHERINE D. TSATSANIS, PHD Tallahassee, FloridaChild Study CenterYale University School of Medicine SALLY WHEELWRIGHT, MANew Haven, Connecticut Autism Research Centre University of CambridgeBELGIN TUNALI-KOTOSKI, PHD Cambridge, EnglandCenter for Human Development ResearchUniversity of Texas Health Sciences Center LORNA WING, MD at Houston National Autistic Society Centre for SocialHouston, Texas and Communication Disorders Bromley, Kent, United KingdomSAM TYANOThe Geha Psychiatric Hospital DIANNE ZAGER, PHDThe Beilinson Medical Center Pace UniversityTel Aviv University Medical School New York, New YorkTel Aviv, Israel
  12. 12. Editorial BoardMIRIAM BERKMAN, JD, MSW CHRISTOPHER GILLBERG, MD, PHDChild Study Center Department of Child and AdolescentYale University School of Medicine PsychiatryNew Haven, Connecticut Göteborg University Göteborg, SwedenALICE S. CARTER, PHDDepartment of Psychology LYNN KERN KOEGEL, PHDUniversity of Massachusetts Boston Autism Research and Training CenterBoston, Massachusetts University of California Santa Barbara, CaliforniaEDWIN COOK JR., MDDepartment of Psychiatry KATHERINE A. LOVELAND, PHDUniversity of Chicago Mental Science InstituteChicago, Illinois Department of Psychiatry and Behavioral SciencesPETER DOEHRING, PHD University of Texas Health Sciences CenterDelaware Autism Program Houston, TexasNewark, Deleware GARY MESIBOV, PHDELISABETH M. DYKENS, PHD Division TEACCHKennedy Center for Research on Human University of North Carolina Development Chapel Hill, North CarolinaVanderbilt UniversityNashville, Tennesse MICHAEL D. POWERS, PSYDB. J. FREEMAN, PHD The Center for Children with Special NeedsDepartment of Psychiatry Glastonbury, Connecticut andUniversity of California Yale Child Study CenterLos Angeles, California New Haven, ConnecticutERIC FOMBONNE, MD PATRICIA A. PRELOCK, PHD, CCC-SLPDepartment of Psychiatry Department of Communication SciencesMcGill University University of VermontMontreal, Canada Burlington, Vermont xiii
  13. 13. xiv Editorial BoardSALLY J. ROGERS, PHD MARIAN SIGMAN, PHDThe M.I.N.D. Institute Center for Autism Research and TreatmentUniversity of California Davis Medical Center UCLA School of MedicineSacramento, California Los Angeles, CaliforniaLAURA SCHREIBMAN, PHD MATTHEW STATE, MD, PHDDepartment of Psychology Child Study CenterUniversity of California Yale University School of MedicineSan Diego, California New Haven, ConnecticutROBERT SCHULTZ, PHD PETER SZATMARI, MDChild Study Center Department of PsychiatryYale University School of Medicine McMaster UniversityNew Haven, Connecticut Hamilton, OntarioBRYNA SIEGEL, PHD LARRY WOODDirector, Autism Clinic BenhavenChildren’s Center at Langley Porter East Haven, ConnecticutUniversity of CaliforniaSan Francisco, California
  14. 14. PrefaceA comprehensive Handbook devoted to autism that allow a child to become a family memberand pervasive developmental disorders testifies and social being.to the volume of research, services, theory, This Handbook is guided by a developmen-and advocacy related to children and adults tal psychopathological orientation (Cicchettiwith the most severe disorders of development. & Cohen, 1995). Within this framework, prin-Indeed, the third edition of this work is now ciples and findings about normal developmentliterally two books. The expansion in size and are used to illuminate how development maysophistication reflects substantial advances in become derailed and lead to pathological con-knowledge during the one decade that sepa- ditions, and, conversely, studies of disordersrates it from its predecessor published in 1997. such as autism are used to cast light on normal Autism has attracted remarkable interest developmental processes. Autism and similarand concern of clinicians and researchers from developmental disorders may serve as “experi-the time of its first scientific description over ments of nature.” Their underlying biology and60 years ago by Leo Kanner (1943). As a disor- psychology, as well as the types of adaptationsder that afflicts the core of socialization, it that individuals can use to compensate forhas posed scientific challenges to theories of their difficulties, may reveal mechanisms anddevelopmental psychology and neurobiology as processes that are otherwise concealed fromwell as therapy and education. Virtually every awareness or scientific scrutiny.type of theory relating to child development— As a serious, generally lifelong condition,cognitive, social, behavioral, affective, neuro- autism has generated important challenges tobiological—has been applied to understanding the systems that relate to individuals with dis-the enigmatic impairments and competencies abilities, including educational, vocational,of autistic individuals. And the results of em- medical, and psychiatric systems, as well as topirical studies inspired by these diverse theo- social policy, legislation, and the legal systems.retical perspectives have enriched not only the Because of its multifaceted impact on develop-field of autism but also the broad field of de- ment, autism also has focused the attention ofvelopmental psychopathology. Indeed, autism all the professions concerned with children andhas served as a paradigmatic disorder for adults with difficulties, including psychology,theory testing and research on the essential education, psychiatry, physical rehabilitation,preconditions for normal social-cognitive mat- recreational therapy, speech and language,uration—expression and recognition of emo- nursing, pediatrics, neurology, occupationaltions, intersubjectivity, sharing a focus of therapy, genetics, social work, law, neuroradi-interest with other people, the meaning and ology, pharmacology—indeed, virtually everyuses of language, forming first attachments caring profession. By drawing these disci-and falling in love, empathy, the nuanced un- plines together in the clinic and laboratory,derstanding of the minds of others—indeed, autism has helped forge the multidisciplinarythe whole set of competencies and motivations approach to developmental disabilities. One xv
  15. 15. xvi Prefacegoal of this Handbook is to provide an orienta- family is experienced by parents, siblings, andtion of shared concepts and knowledge to fa- extended family as profoundly painful. Therecilitate the future collaboration among the can, of course, be consolations in dealing welldisciplines and professionals who work with with adversity; yet, however well a family andautistic individuals and their families. individual cope, a lifetime with autism brings Nothing strikes more at the core of a fam- with it more than a fair share of disappoint-ily’s functioning than the birth of a child with ment, sadness, and emotional scarring for alla serious disability. Kanner recognized the involved. Only with scientific advances thatcentral involvement of families in his first re- will prevent, greatly ameliorate, or even cureports when he described the peculiarities of these conditions will this pain be fully eased.social relations in families who came for his Clinicians and researchers have been drawn toconsultation and care. In his first accounts, he autism in the hope of achieving this result, andmisread the data presented to him and postu- their remarkable commitments are also re-lated an etiologic role of parental behavior in flected in this Handbook and in servicesthe pathogenesis of autism. This mistake throughout the world.haunted the field and pained families for many At times, however, therapeutic zeal has ex-years; it still may arise in certain places, as ceeded the knowledge available. The Hand-ghosts tend to do. However, Kanner soon book aims at providing authentic knowledge,righted his theory and emphasized the central broadly accepted by experts. Yet, we recog-message of his initial report that autism is es- nize that there are sometimes sharp differ-sentially a reflection of an inborn dysfunction ences of opinion and theoretical perspectiveunderlying affective engagement. Because so- and that today’s wisdom may be tomorrow’scial interaction is a two-way street, parents delusion. Thus, it is important to foster diver-and others who spend time with an autistic sity while encouraging everyone to pursue rig-child will no doubt relate differently than with orous, empirical research that will improvehis or her socially engaged, ebullient, linguis- future treatments. Scientific progress oddlytically gifted siblings. Of interest, more recent leads to many divergent ideas and findings forgenetic information about autism and As- a long time before a deeper level of clarity isperger syndrome, discussed in the Handbook, achieved.returns us to Kanner’s observations about so- While we encourage tolerance of differingcial variations and impairments running scientific views, we do not think that “any-within families. New findings of aggregation thing goes.” Virtually every month or two,of autism, cognitive problems, and social dif- parents and others who care for autistic chil-ficulties within families suggest that an under- dren and adults are likely to hear announce-lying vulnerability may be transmitted from ments of new, miraculous treatments. Theyone generation to the next. If so, explicating may be confused by the options and feel guiltythe interaction between genetic and environ- for not making the sacrifices necessary to trymental factors in the course of these disorders still another approach. Today, within a stone’swill bring us back to questions not too far from throw of our own university, parents are en-where Kanner started his speculations. gaged in a medley of divergent treatments. As The impact of autistic individuals on family the recent review by the National Researchlife has changed with the creation of more ade- Council (2001) has shown, a variety of treat-quate services. Burdens on families have been ments have now been shown to be effective foreased by early identification, initiation of edu- individuals with autism. The efficacy of a hostcational and other treatments during the first of other treatments, commonly referred to asyears of life, suitable family guidance and sup- complementary or alternative treatments, re-port, high-quality educational and other pro- mains to be scientifically well established.grams, respite care, supportive living and other Often, such treatments compete with more tra-arrangements for adults with autism, effective ditional ones. Parents, and sometimes profes-pharmacological treatments, and knowledge sionals, may feel at a loss in terms ofthat can guide lifetime planning. Yet, with per- evaluating such treatments and making sound,haps rare exception, an autistic child in the empirically based decisions about which treat-
  16. 16. Preface xviiment(s) should be pursued with respect to an a major impact on the care and treatment of in-individual child. Occasionally, differences be- dividuals with autism, as well. Far more thantween advocates and skeptics in relation to most experts believed possible 20 or even 10treatment ethics and efficacy arouse passions, years ago, many individuals with autism haveincluding legal proceedings and splits between not only the right but also the capacities to par-professionals or within the family. How are ticipate within their communities—to study,parents and professionals best able to make in- work, live, recreate, and share in family life.formed decisions? The Handbook reflects this important educa- Like other areas of science, the field of tional and cultural evolution in which a philos-autism will advance when we adopt, whenever ophy of despair has given way to one of hope.possible, the rigorous standards of scientific We also appreciate that there are enormousresearch. Indeed, our own work as clinician- differences among individuals with autismresearchers has led us to the conclusion that and related conditions in their abilities andwe should offer no less. Thus, in the Handbook needs, among families in their strengths andwe have attempted to provide a comprehensive resources, and among communities and na-account of current, scientific thinking and tions in their own viewpoints and histories.findings and to mark out speculation and the- These differences should be respected, andory for what these are. We also have eschewed policy and discussion should recognize thataccounts of ideas and treatments, however fas- “autistic people” do not form a homogeneouscinating they might be, that are too far from class. Clinicians and practitioners generallythe mainstream of scientific research and em- are able to keep the individual at the focus ofpirically guided practice. Such decisions are concern, as we do when we think together withour responsibility and may leave some advo- families about their unique child or with ancates feeling shortchanged or even angry; they adult with autism about his or her special liferetain their right to free speech and, who situation. At such times, broader issues of so-knows, may yet be vindicated. cial policy recede into the background as the In underlining the importance of data in fullness of the individual’s needs and interestsguiding decisions about treatment, we also rec- are paramount. In shaping social policy andognize that clinical care always occurs within planning regional and national systems, how-a social context and is shaped by beliefs, val- ever, there is a clear consensus for the ap-ues, and other historical and cultural values. proach to treatment and lifetime planningPrevailing views about the rights of individu- captured by the ideology of autonomy andals with disabilities and their role in society community-based living and working. We hopehave changed dramatically over the past that this orientation is conveyed by this Hand-decades. Embodied in legislation and judicial book. At the same time, there is no single, rightdecision, the emergent viewpoints about rights formula for every child or adult with autism: Ato education, services, access, job opportuni- community and nation should strive to haveties—to basic human respect—have shaped available a spectrum of services to satisfy theservices and improved the quality of the lives varied and changing needs and values of indi-of individuals who would only decades ago viduals with autism and their families.have been subject to abuses of various types Clearly defined concepts are essential forthat limited freedom, stigmatized, or dehu- communication among scientists, especiallymanized. We have been delighted to see this for interdisciplinary and international collabo-view gaining increasingly wide acceptance ration. In the field of autism and other behav-around the world. ioral disorders, there has been substantial Parents and individuals with disabilities progress in nosology and diagnosis. This prog-have been effective advocates. Communities ress has enhanced discussion, research, andand professionals have been sensitized to the cross-disciplinary exchange. It had the merit ofsubtle ways in which individuals with disabili- underlining the concept of developmental dis-ties may be deprived of autonomy and are order and the breadth of dysfunctions in social,made to be more handicapped by lack of provi- cognitive, language, and other domains. Simi-sion for their special needs. This trend has had larly, the introduction of multiaxial diagnosis
  17. 17. xviii Prefaceunderscored the need for patients to be seen the Handbook began in 2000 with an expansionfrom varied points of view and the need to of the number of editors in light of the increas-supplement “categorical disorders” (e.g., ingly diverse and sophisticated body of re-autism) with knowledge about other aspects of search that was becoming available.functioning, including medical status and In this edition, we have retained the bestadaptive abilities. As we discuss in the first features of the second edition with expandedsection of this Handbook, advances in classifi- coverage in selected areas. In many instances,cation have led new knowledge and increas- authors have kindly revised earlier contribu-ingly focused and refined research. The tions in light of current research; in otherconsensus exemplified in Diagnostic and Sta- cases, we have solicited new contributors andtistical Manual of Mental Disorders, fourth chapters. As a result of the expanded coverage,edition (DSM-IV; American Psychiatric Asso- the book has expanded into two volumes with aciation, 1994), and International Classifica- total of nine sections. This more extensivetion of Diseases, 10th edition, (ICD-10; World coverage reflects the increasing depth andHealth Organization, 1992), has stimulated a breadth of work within the field.tremendous increase in research over the past In creating this Handbook, we invited chap-decade. Today the two internationally recog- ters from recognized scholars. The responsesnized systems provide a consistent approach to to the invitations were gratifying. Each com-the diagnosis of the most severe disorders of pleted chapter was reviewed by the editors andearly onset. While there are still some regional by two members of a distinguished editorialor national diagnostic alternatives, the trend committee. The use of peer review is not typi-is, fortunately, toward consensus. At the same cal for volumes such as this, and we are grate-time, the universal acceptance of a standard ful that all authors of chapters welcomed thismeter and of Greenwich time does not ensure process. The reviewers wrote careful critiques,great science or lack of debate and much work sometimes many pages in length; these reviewsremains to be done, but the current approach were provided to the authors for their consider-has helped provide a solid framework on which ation during revision. The interactive processfuture refinements can sensibly be made. of revising chapters has helped ensure that the The thousands of publications—scientific contributions are as good as the field allows.papers, monographs, chapters, books—about The past several years have seen a major in-autism and pervasive developmental disorder crease in the funding of research on autism.are evidence of its intrinsic interest to re- While we are gratified by this increased sup-searchers and clinicians and to the human im- port, we hope for even more because onlyportance of these disorders for those who through research will we be able to change in-suffer from them and their families. The grow- cidence and alter the natural history of autisticing body of books and resources specifically and other pervasive disorders. The cost of car-designed for parents and family members has ing for one autistic individual over a lifetimebeen a noteworthy achievement of the past sev- may be more than any single investigator willeral years. At the same time, you could reason- ever have to spend during a career of research.ably ask why a revision of the Handbook is Many hundreds of millions of dollars are spentneeded now. internationally on direct services; only a tiny This third edition of the Handbook of percentage of this expenditure is devoted toAutism and Pervasive Developmental Disorders any type of formal research. It is as if theis the second revision of a book that first ap- United States committed all of its funding topeared in 1987. This edition quickly became building iron lungs and considered virology toestablished as an important scholarly resource. be a secondary concern in relation to polio. ToWithin a decade much had changed, and the fully exploit the many new methods for study-second edition of this volume appeared. The ing brain development and brain-behavior rela-rapid pace of scientific progress was reflected tions and to attempt to translate biological andin the second edition, which was expanded to behavioral research findings into treatmentsincrease coverage of new research and treat- will require substantial investment of researchment methods. Preparations for this version of funds. The recent network of federal centers
  18. 18. Preface xixthrough the Collaborative Program of Excel- A Handbook portrays what is known and re-lence in Autism (CPEA) and the Studies to veals what is poorly understood. AlthoughAdvance Autism Research and Treatment many studies have been conducted and areas(STAART) as well as through the Research explored, there is no hard biological or behav-Units on Psychopharmacology (RUPP) and the ioral finding that can serve as a reliable com-Centers for Disease Control (CDC) have al- pass point to guide research; in spite of greatready had major benefits. These benefits will efforts and decades of commitment by re-eventually include not only a reduction in suf- searchers and clinicians, the fate of manyfering and in costs for those with autism, but autistic individuals remains cloudy; and evenalso important knowledge that will benefit a with new knowledge, there are still too manyfar larger group of children and adults with areas of controversy. That investigators andother serious neuropsychiatric and develop- clinicians, working alongside families and ad-mental disorders. We hope that one contribu- vocates, have learned so much, often with verytion of the Handbook will be to underscore the tight resources, speaks to their commitment togains from systematic research and the impor- understanding and caring for autistic childrentance of sustained support for multidiscipli- and adults. The goal of this Handbook is tonary clinical research groups. document their achievements and inspire their We wish to recognize the support that has future efforts.been provided over the decades to our own clin- FRED R. VOLKMAR, MDical and research program by the National Insti- AMI KLIN, PHDtute of Child Health and Human Development, RHEA PAUL, PHDNational Institute of Deafness and Communica- Yale Child Study Centertion Disorders, and the National Institute of New Haven, ConnecticutMental Health, as well as by the Korczak Foun- November, 2004dation, the W. T. Grant Foundation, the DorisDuke Foundation, the Simon’s Foundation, REFERENCESCure Autism Now, the National Alliance for American Psychiatric Association. (1980). Diag-Autism Research, and private donors. nostic and statistical manual of mental disor- We thank the members of our editorial ders (3rd ed.). Washington, DC: Author.board for their excellent contributions to this American Psychiatric Association. (1994). Diag-process and Lori Klein, who helped us coor- nostic and statistical manual of mental disor-dinate this effort, as well as the wonderful ders (4th ed.). Washington, DC: Author.editorial staff at Wiley, who have consis- Cohen, D. J., & Donnellan, A. M. (1987). Hand-tently sought to help us deliver the best possi- book of Autism and Pervasive Developmentalble work. We have been very fortunate in Disorders. New York: Wiley. Cicchetti D., & Cohen D. J. (1995). Developmentalbeing able to work within the scholarly envi- Psychopathology. (Vols. 1–2). New York: Wiley.ronment provided by the Yale School of Medi- Kanner, L. (1943). Autistic disturbances of affec-cine and the Child Study Center. The unique tive contact. Nervous Child 2, 217–250.qualities of the Child Study Center reflect the Volkmar, F., Klin, A., Siegel, B., et al. (1994). Fieldcontributions of generations of faculty who trial for autistic disorder in DSM-IV. Americanhave committed themselves to clinical schol- Journal of Psychiatry, 151, 1361–1367.arship, teaching, and service. We particularly World Health Organization. (1977). Manual of thewish to acknowledge the guidance and sup- international statistical classification of dis-port of senior mentors—Albert J. Solnit, eases, injuries and causes of death (9th ed.,Sally Provence, Sam Ritvo, Sara Sparrow, Vol. 1). Geneva, Switzerland: Author.and Edward Zigler—as well as many col- World Health Organization. (1992). The ICD-10 classification of mental and behavioral disor-leagues and collaborators in this work, in- ders. Clinical descriptions and diagnosticcluding Robert Schultz, Cheryl Klaiman, guidelines. Geneva, Switzerland: Author.Larry Scahill, Matt State, Elenga Grigorenko, World Health Organization. (1993). The ICD-10George Anderson, James Leckman, Kasia classification of mental and behavioral disor-Chawarska, Katherine Tsatsanis, Wendy ders. Diagnostic criteria for research. Geneva,Marans, and Emily Rubin. Switzerland: Author.
  19. 19. Contents VOLUME 1: DIAGNOSIS, DEVELOPMENT, NEUROBIOLOGY, AND BEHAVIOR SECTION I DIAGNOSIS AND CLASSIFICATIONChapter 1. Issues in the Classification of Autism and Related Conditions 5 Fred R. Volkmar and Ami KlinChapter 2. Epidemiological Studies of Pervasive Developmental Disorders 42 Eric FombonneChapter 3. Childhood Disintegrative Disorder 70 Fred R. Volkmar, Kathy Koenig, and Matthew StateChapter 4. Asperger Syndrome 88 Ami Klin, James McPartland, and Fred R. VolkmarChapter 5. Rett Syndrome: A Pervasive Developmental Disorder 126 Richard Van Acker, Jennifer A. Loncola, and Eryn Y. Van AckerChapter 6. Pervasive Developmental Disorder Not Otherwise Specified 165 Kenneth E. TowbinChapter 7. Outcomes in Autism Spectrum Disorders 201 Patricia Howlin SECTION II DEVELOPMENT AND BEHAVIORChapter 8. Autism in Infancy and Early Childhood 223 Katarzyna Chawarska and Fred R. VolkmarChapter 9. The School-Age Child with an Autistic Spectrum Disorder 247 Katherine A. Loveland and Belgin Tunali-Kotoski xxi
  20. 20. xxii ContentsChapter 10. Adolescents and Adults with Autism 288 Victoria Shea and Gary B. MesibovChapter 11. Social Development in Autism 312 Alice S. Carter, Naomi Ornstein Davis, Ami Klin, and Fred R. VolkmarChapter 12. Language and Communication in Autism 335 Helen Tager-Flusberg, Rhea Paul, and Catherine LordChapter 13. Neuropsychological Characteristics in Autism and Related Conditions 365 Katherine D. TsatsanisChapter 14. Imitation and Play in Autism 382 Sally J. Rogers, Ian Cook, and Adrienne MerylChapter 15. Autism and Emotion 406 Peter Hobson SECTION III NEUROLOGICAL AND MEDICAL ISSUESChapter 16. Genetic Influences and Autism 425 Michael RutterChapter 17. Neurochemical Studies of Autism 453 George M. Anderson and Yoshihiko HoshinoChapter 18. Neurologic Aspects of Autism 473 Nancy J. Minshew, John A. Sweeney, Margaret L . Bauman, and Sara Jane WebbChapter 19. Functional Neuroimaging Studies of Autism Spectrum Disorders 515 Robert T. Schultz and Diana L . RobinsChapter 20. Medical Aspects of Autism 534 Pauline A. Filipek SECTION IV THEORETICAL PERSPECTIVESChapter 21. Problems of Categorical Classification Systems 583 Lorna WingChapter 22. Executive Functions 606 Sally Ozonof f, Mikle South, and Sherri ProvencalChapter 23. Empathizing and Systemizing in Autism Spectrum Conditions 628 Simon Baron-Cohen, Sally Wheelwright, John Lawson, Richard Grif fin, Chris Ashwin, Jac Billington, and Bhismadev Chakrabarti
  21. 21. Contents xxiiiChapter 24. The Weak Central Coherence Account of Autism 640 Francesca HappéChapter 25. Joint Attention and Neurodevelopmental Models of Autism 650 Peter Mundy and Courtney BurnetteChapter 26. The Enactive Mind—From Actions to Cognition: Lessons from Autism 682 Ami Klin, Warren Jones, Robert T. Schultz, and Fred R. VolkmarAuthor Index I•1Subject Index I•39 VOLUME 2: ASSESSMENT, INTERVENTIONS, AND POLICY SECTION V ASSESSMENTChapter 27. Screening for Autism in Young Children 707 Elaine E. Coonrod and Wendy L . StoneChapter 28. Diagnostic Instruments in Autistic Spectrum Disorders 730 Catherine Lord and Christina CorselloChapter 29. Clinical Evaluation in Autism Spectrum Disorders: Psychological Assessment within a Transdisciplinary Framework 772 Ami Klin, Celine Saulnier, Katherine Tsatsanis, and Fred R. VolkmarChapter 30. Assessing Communication in Autism Spectrum Disorders 799 Rhea PaulChapter 31. Behavioral Assessment of Individuals with Autism: A Functional Ecological Approach 817 Michael D. PowersChapter 32. Sensory and Motor Features in Autism: Assessment and Intervention 831 Grace T. Baranek, L . Diane Parham, and James W. Bodfish SECTION VI INTERVENTIONSChapter 33. Curriculum and Classroom Structure 863 J. Gregory OlleyChapter 34. Behavioral Interventions to Promote Learning in Individuals with Autism 882 Laura Schreibman and Brooke IngersollChapter 35. Behavioral Interventions 897 Joel D. Bregman, Dianne Zager, and John Gerdtz
  22. 22. xxiv ContentsChapter 36. Critical Issues in Enhancing Communication Abilities for Persons with Autism Spectrum Disorders 925 Barry M. Prizant and Amy M. WetherbyChapter 37. Enhancing Early Language in Children with Autism Spectrum Disorders 946 Rhea Paul and Dean SutherlandChapter 38. Addressing Social Communication Skills in Individuals with High-Functioning Autism and Asperger Syndrome: Critical Priorities in Educational Programming 977 Wendy D. Marans, Emily Rubin, and Amy LaurentChapter 39. School-Based Programs 1003 Joel R. Arick, David A. Krug, Ann Fullerton, Lauren Loos, and Ruth FalcoChapter 40. Helping Children with Autism Enter the Mainstream 1029 Jan S. Handleman, Sandra L . Harris, and Megan P. MartinsChapter 41. Models of Educational Intervention for Students with Autism: Home, Center, and School-Based Programming 1043 Sandra L . Harris, Jan S. Handleman, and Heather K. JennettChapter 42. Working with Families 1055 Lee M. Marcus, Linda J. Kunce, and Eric SchoplerChapter 43. Employment: Options and Issues for Adolescents and Adults with Autism Spectrum Disorders 1087 Peter F. Gerhardt and David L . HolmesChapter 44. Psychopharmacology 1102 Lawrence Scahill and Andrés Martin SECTION VII PUBLIC POLICY PERSPECTIVESChapter 45. Preparation of Autism Specialists 1123 Gail G. McGee and Michael J. MorrierChapter 46. Educating Children with Autism: Current Legal Issues 1161 Myrna R. MandlawitzChapter 47. Cross-Cultural Program Priorities and Reclassification of Outcome Research Methods 1174 Eric Schopler SECTION VIII INTERNATIONAL PERSPECTIVESChapter 48. International Perspectives 1193 Fred R. Volkmar
  23. 23. Contents xxv SECTION IX PERSONAL PERSPECTIVESChapter 49. Community-Integrated Residential Services for Adults with Autism: A Working Model (Based on a Mother’s Odyssey) 1255 Ruth Christ SullivanChapter 50. A Sibling’s Perspective on Autism 1265 Jason B. KonidarisChapter 51. A Personal Perspective of Autism 1276 Temple GrandinChapter 52. A Teacher’s Perspective: Adult Outcomes 1287 Virginia Walker SperryChapter 53. Autism: Where We Have Been, Where We Are Going 1304 Isabelle RapinAuthor Index I•1Subject Index I•39
  24. 24. SECTION I DIAGNOSIS AND CLASSIFICATIONThe paired processes of diagnosis and classifi- unique signs and symptoms are provided acation are fundamental to research and inter- context. They are given a more general mean-vention. The diagnostic process includes all of ing. For example, the clinician will assign thethe activities in which a clinician engages in patient’s coughing and fever to the categorytrying to understand the nature of an individ- pneumonia. This categorical diagnosis isual’s difficulty. The result of this process is placed within the narrative of the patient’s lifeoften a narrative account—a portrait of the in- and current problems. It may be related to thedividual’s past, the current problems, and the patient’s family or genetic background, expe-ways in which these problems can be related to riences, exposures, vulnerabilities, and theeach other and to possible, underlying causes. like, and it will be used to explain why the pa-A useful diagnostic process also suggests tient has come for help and what type of treat-methods for being helpful, including specific ment may be useful.treatments. In the course of the diagnostic pro- The diagnostic process is based on currentcess, a clinician will learn about the patient’s knowledge, technologies, and skills; it canhistory, talk to others about the patient, ob- sometimes be quite brief (as in the diagnosticserve the patient, engage in specialized exami- processes for an earache) or remarkably exten-nations, and use laboratory and other methods sive (as in the diagnostic process for autism).for helping define patients’ problems and their Diagnostic classifications, also, are based oncauses. The clinician will integrate the find- available knowledge and laboratory methods;ings from these activities, based on special- they also embody conventions, the consensusized, scientific knowledge. Often, a patient among clinicians and experts about a usefulwill have several types of problems; the diag- way for sorting illnesses and troubles.nostic process may lead to a narrative that New knowledge and methodologies changelinks these to an underlying, common cause or the diagnostic process as well as the classifica-may separate the problems on the basis of their tion system. The advent of methods such as mo-differing causes or treatments. Often, more lecular genetic testing, magnetic resonancethan one clinician may be involved in the diag- imaging of the brain, and structured, formal as-nostic process; then, the final clinical, diag- sessment of cognitive processes have changednostic formulation will integrate the pooled the diagnostic process and classification andinformation into a coherent and consensual will continue to do so in the future.narrative that reflects the varied information. The skillful diagnostic process, and the re- One component of the diagnostic process is sultant account about the patient and his ill-the assignment of the patient’s difficulties—his ness, often is broad-based, nuanced, andor her signs, symptoms, pains, troubles, worries, individualized. The clinical formulation, thedysfunctions, abnormal tests—to a specific full statement of findings, may capture theclass or category of illness or disorder. Through many dimensions of a person’s life, includingclassification, the patient’s individualized, his or her competencies as well as specific 1
  25. 25. 2 Diagnosis and Classificationimpairments and difficulties. However, a diag- criteria were provided for PDD, but the clini-nostic categorization—a label or classification cal description conveyed a sense of the contourof specific troubles and their designation as a of its clinical territory. To be a citizen of thissyndrome, disorder or disease—-is delimited. territory, a child had to exhibit difficultiesProviding the label of a specific disease delim- from the first several years of life involvingits individuality for the sake of being able to several domains (social, language, emotional,utilize general knowledge gained from scien- cognitive) and with significant impairment oftific study and experience with others with functioning. In 1980, and again when DSM-IIIsimilar problems. In this important respect, it was revised in 1987 (DSM-III-R), the only ex-is useful to think that individuals are engaged ample of a specifically defined example ofin the process of diagnosis and symptoms and PDD was autism. Indeed, autism remains thesigns are classified and labeled. A diagnostic paradigm or model form of PDD. From 1980 tolabel is not able or meant to capture the full- 1994, other children whose difficulties wereness of an individual. Diagnostic classification captured by the sense of PDD, but who weresystems and specific assignment to a disease not diagnosed as having autism, were de-or disorder category are tools, which when scribed as having “pervasive developmentalcombined with other tools should lead to help- disorder that is not otherwise specified”ful understanding and treatment. (PDD-NOS). Although not an official diagnos- The newer methods of classification of de- tic term, the phrase autism spectrum disordervelopmental, psychiatric, behavioral, or mental (ASD) is now in widespread use and is synony-disorders respect the distinction between diag- mous with the term PDD.nosing an individual and classifying his or her The 1994 edition of the Manual of Mentalproblems. They are also multidimensional and Disorders (DSM-IV), based on new evidenceelicit information about other domains of the and international field testing, refined the di-patient’s life, in addition to areas of leading agnostic criteria for autism and formalizedimpairment. This approach shapes and has three new classes or types of pervasive devel-been shaped by the two international systems opmental disorders: childhood disintegrativeof classification in which autism and perva- disorder, Asperger’s disorder, and Rett’s dis-sive developmental disorders are included: the order. Also, a consensus was reached betweenDiagnostic and Statistical Manual of Mental the two major systems, DSM and ICD, for theDisorders of the American Psychiatric Associ- system of classification and specific diagnos-ation and the International Statistical Classifi- tic criteria. Thus, for the first time, there iscation of Diseases and Related Health Problems happily an internationally accepted, field-of the World Health Organization (WHO). The tested, diagnostic system for the most severeintroductions to the recent editions of these disorders of development. The DSM-IV andtwo systems (DSM-IV, American Psychiatric ICD-10 systems form the epistemologicalAssociation, 1994; and ICD-10, WHO, 1992) backbone of this Handbook.provide helpful overviews of the goals of clas- The chapters in this section of the Handbooksification and the roles of diagnostic cate- describe current frameworks for classification,gories in clinical understanding. the four forms of pervasive developmental dis- A new diagnostic term was introduced in the orders for which specific criteria are providedDSM-III in 1980: the concept of pervasive de- in DSM-IV, and the kinds of disturbances thatvelopmental disorder (PDD). The umbrella remain within the territory of pervasive devel-term PDD gained broad popularity among pro- opmental disorders that are not further classi-fessionals from various disciplines as well as fied. This section also provides a review ofwith parents and advocates. Without a previous studies of natural history and outcome.history in psychiatry, psychology, or neurology, It is our expectation that advances in under-the novel term PDD had the advantage of not standing the pathogenesis of pervasive develop-carrying excessive theoretical baggage or con- mental disorders will continue to have a majortroversy. It also had a broad inter-disciplinary impact on the diagnostic and classificationappeal and a nice emphasis on development and processes. Thus, in any discussion about diag-disorders of development. No specific diagnostic nosis and nosology, it is important to recognize
  26. 26. Diagnosis and Classification 3their provisional nature. Advances in knowl- American Psychiatric Association. (1987). Diag-edge may lead to changes in diagnostic ap- nostic and statistical manual of mental disor-proaches. It is also critical to remember the ders (3rd ed., rev.). Washington, DC: Author.importance of balancing categorical ap- American Psychiatric Association. (1994). Diag-proaches to diagnosis with a fuller understand- nostic and statistical manual of mental disor- ders (4th ed.). Washington, DC: Author.ing of the many dimensions of individual World Health Organization. (1992). Internationalchildren and adults, that is, as whole people. classification of diseases (10th ed.). Geneva, Switzerland: Author.REFERENCESAmerican Psychiatric Association. (1980). Diag- nostic and statistical manual of mental disor- ders (3rd ed.). Washington, DC: Author.
  27. 27. CHAPTER 1Issues in the Classification of Autism andRelated ConditionsFRED R. VOLKMAR AND AMI KLINClinicians and researchers have achieved con- et al., 2000; Piven, Palmer, Jacobi, Childress,sensus on the validity of autism as a diagnostic & Arndt, 1997; Volkmar, Lord, Bailey,category and the many features central to its Schultz, & Klin, 2004).definition (Rutter, 1996). This has made pos- Today, autism is probably the complex psy-sible the convergence of the two major diag- chiatric or developmental disorder with thenostic systems: the fourth edition of the best empirically based, cross-national diag-American Psychiatric Association’s Diagnos- nostic criteria. Data from a number of re-tic and Statistical Manual of Mental Disorders search groups from around the world have(DSM-IV, 1994) and the 10th edition of the In- confirmed the usefulness of current diagnosticternational Classification of Diseases (ICD- approaches, and, even more importantly, the10; World Health Organization [WHO], 1992). availability of a shared clinical concept andAlthough some differences remain, these language for differential diagnosis is a greatmajor diagnostic systems have become much asset for clear communication among clini-more alike than different; this has facilitated cians, researchers, and advocates alike (Buite-the development of diagnostic assessments laar, Van der Gaag, Klin, & Volkmar, 1999;“ keyed” to broadly accepted, internationally Magnusson & Saemundsen, 2001; Sponheim,recognized guidelines (Rutter, Le Couteur, & 1996; Sponheim & Skjeldal, 1998). In the fu-Lord, 2003; see Chapter 28, this Handbook, ture, the discovery of biological correlates,Volume 2). It is somewhat surprising that, as causes, and pathogenic pathways will, nogreater consensus has been achieved on the doubt, change the ways in which autism isdefinition of strictly defined autism, an inter- diagnosed and may well lead to new nosologi-esting and helpful discussion on issues of cal approaches that, in turn, will facilitate fur-“ broader phenotype” or potential variants of ther scientific progress (Rutter, 2000).autism has begun (Bailey, Palferman, Heavey, Simultaneously, considerable progress has& Le Couteur, 1998; Dawson et al., 2002; been made on understanding the broader rangePickles, Starr, Kazak, Bolton, Papanikolaou, of difficulties included within the autismThe authors acknowledge the support of the National Institute of Child Health and Human Development(CPEA program project grant 1PO1HD3548201, grant 5-P01-HD03008, and grant R01-HD042127-02), theNational Institute of Mental Health (STAART grant U54-MH066494), the Yale Children’s Clinical Re-search Center, and of the National Alliance of Autism Research, Cure Autism Now, and the Doris DukeFoundation as well as the Simons Foundation. We also gratefully acknowledge the helpful comments of Pro-fessor Michael Rutter on an earlier version of this manuscript. 5
  28. 28. 6 Diagnosis and Classificationspectrum; that is, as our knowledge of autism DEVELOPMENT OF AUTISM AS Ahas advanced, so has our understanding of DIAGNOSTIC CONCEPTa broader range of conditions with somesimilarities to it. Table 1.1 lists categories of Although children with what we now wouldpervasive developmental disorders (PDDs) as describe as autism had probably been de-classified by ICD-10 and DSM-IV. scribed much earlier as so called wild or feral In addition to the international and cross- children (Candland, 1993; Simon, 1978) it wasdisciplinary agreement about diagnostic crite- Leo Kanner who first elaborated what todayria for autism, a consensus has emerged about would be termed the syndrome of childhoodother issues that were once debated. Today, autism.there is broad agreement that autism is adevelopmental disorder, that autism and asso- Kanner’s Description—Earlyciated disorders represent the behavioral Controversiesmanifestations of underlying dysfunctions inthe functioning of the central nervous system, Kanner’s (1943) seminal clinical descriptionand that sustained educational and behavioral of 11 children with “autistic disturbances ofinterventions are useful and constitute the affective contact ” has endured in many ways.core of treatment (National Research Coun- His description of the children was groundedcil, 2001). in data and theory of child development, par- In this chapter, we summarize the develop- ticularly the work of Gesell, who demon-ment of current diagnostic concepts with a strated that normal infants exhibit markedparticular focus on autism and on the empiri- interest in social interaction from early in life.cal basis for its current official definition. We Kanner suggested that early infantile autismaddress the rationale for inclusion of other was an inborn, constitutional disorder in whichnonautistic PDDs/autism spectrum disorders children were born lacking the typical motiva-(ASDs), which are discussed in detail in other tion for social interaction and affective com-chapters in this section. We also note areas in ments. Using the model of inborn errors ofwhich knowledge is lacking, such as the rela- metabolism, Kanner felt that individuals withtionships of autism to other comorbid condi- autism were born without the biological pre-tions and the ongoing efforts to provide conditions for psychologically metabolizingalternative approaches to subtyping these the social world. He used the word autism toconditions. convey this self-contained quality. The termTABLE 1.1 Conditions Currently Classified as Pervasive Developmental Disorders Correspondenceof ICD-10 and DSM-IV Categories ICD-10 DSM-IVChildhood autism Autistic disorderAtypical autism Pevasive developmental disorder not otherwise specified (PDD-NOS)Rett syndrome Rett’s disorderOther childhood disintegrative disorder Childhood disintegrative disorderOveractive disorder with mental retardation No corresponding category with stereotyped movementsAsperger syndrome Asperger’s disorderOther pervasive developmental disorder PDD-NOSPervasive developmental disorder, unspecified PDD-NOSSources: Diagnostic and Statistical Manual of Mental Disorders, fourth edition, by American Psychiatric Associa-tion, 1994, Washington, DC: Author; and International Classification of Diseases: Diagnostic Criteria for Research,tenth edition, by the World Health Organization, 1992, Geneva, Switzerland: Author.
  29. 29. Issues in the Classification of Autism and Related Conditions 7was borrowed from Bleuler (1911/1950), who children were born long after the theory wasused autism to describe idiosyncratic, self- dead; unfortunately, this notion still prevails incentered thinking. Autism for Kanner was in- some countries.tended to suggest that autistic children, too, Two types of information went against thelive in their own world. Yet, the autism of indi- psychogenic theories. It is now known thatviduals with autism is distinct from that of children with autism are found in familiesschizophrenia: It represents a failure of devel- from all social classes if studies control foropment, not a regression, and fantasy is impov- possible factors that might bias case ascertain-erished if present at all. The sharing of the ment (e.g., Wing, 1980); while additional dataterm increased early confusion about the rela- on this topic are needed, more recent and rig-tionship of the conditions. orous research has failed to demonstrate asso- In addition to the remarkable social failure ciations with social class (see Chapter 2, thisof autistic individuals, Kanner observed other Handbook, this volume, for a review). A moreunusual features in the clinical histories of the central issue relevant to psychogenic etiologychildren. Kanner described the profound dis- concerns the unusual patterns of interactionturbances in communication. In the original that children with autism and related condi-cohort, three of the children were mute. The tions have with their parents (and other peoplelanguage of the others was marked by as well). The interactional problems of autisticecholalia and literalness, as well as a fascinat- individuals clearly can be seen to arise froming difficulty with acquiring the use of the the side of the child and not the parentsfirst person, personal pronoun (“I”), and refer- (Mundy, Sigman, Ungerer, & Sherman, 1986)ral to self in the third person (“ he” or by first although parents may be at risk for variousname). Another intriguing feature was the problems (see Chapter 15, this Handbook, thischildren’s unusual responses to the inanimate volume). Probably most important, data sup-environment; for example, a child might be un- port the role of dysfunction in basic brain sys-responsive to parents, yet overly sensitive to tems in the pathogenesis of the disorder (seesounds or to small changes in daily routine. Volkmar et al., 2004). Today, the data appear While Kanner’s brilliant clinical accounts to support the concept that biological factors,of the unusual social isolation, resistance to particularly genetic ones, convey a vulnerabil-change, and dysfunction in communication ity to autism; as Rutter (1999) has noted, thehave stood the test of time, other aspects of the issue of interaction between genetic and envi-original report have been refined or refuted by ronmental vulnerabilities of all types remainsfurther research. an important one relevant to a host of disorders A contentious issue early in the history of in addition to autism.autism research concerned the role of parents Kanner speculated that autism was not re-in pathogenesis. Kanner observed that parents lated to other medical conditions. Subsequentof the initial cases were often remarkably suc- research has shown that various medical con-cessful educationally or professionally; he also ditions can be associated with autism (seeappreciated that there were major problems in Chapter 2, this Handbook, this volume) and,the relations between these parents and their most importantly, that approximately 25% ofchild. In his initial paper, he indicated that he persons with autism develop a seizure disorderbelieved autism to be congenital, but the issue (Rutter, 1970; Volkmar & Nelson, 1990; seeof potential psychological factors in causing also Chapters 18 & 20, this Handbook, thisautism was taken up by a number of individu- volume). With the recognition of the preva-als; this issue plagued the history of the field lence of medical problems, some investigatorsfor many years. From the 1960s, however, it proposed a distinction between “primary” andhas been recognized that parental behavior as “secondary” autism depending on whether as-such played no role in pathogenesis. Yet, the sociated medical conditions, for example, con-pain of parents having been blamed for a genital rubella (Chess, Fernandez, & Korn,child’s devastating disorder tended to linger in 1978), could be demonstrated. As time wentthe memories of families, even those whose on, it became apparent that, in some basic
  30. 30. 8 Diagnosis and Classificationsense, all cases were “organic,” and designa- Other Diagnostic Conceptstions such as primary and secondary autismare no longer generally made. In contrast to autism, the definition of autistic- Kanner also misconstrued the relation be- like conditions remains in need of more clarifi-tween autism and intellectual disability. His cation (Rutter, 1996; Szatmari, 2000; Szat-first cases were attractive youngsters without mari, Volkmar, & Walther, 1995). Althoughunusual physical features, who performed well the available research is less extensive thanon some parts of IQ tests (particularly those that on autism, several of these autistic-likethat test rote memory and copying, such as conditions were well enough studied, broadlyblock design, rather than comprehension of ab- recognized, and clinically important enough tostract, verbal concepts). Kanner felt that autis- be included in DSM-IV and ICD-10. We antic-tic children were not mentally retarded, and he, ipate that further studies will improve the def-and many psychologists after him, invoked mo- inition of these conditions and that newtivational factors to explain poor performance. disorders may well be delineated within theAutistic individuals were called “ functionally broad and heterogeneous class of PDD.retarded.” Decades of research have now shown Diagnostic concepts with similarities tothat when developmentally appropriate tests are autism were proposed before and after Kan-given in their entirety, full-scale intelligence ner’s clinical research. Shortly after the turnand developmental scores (IQ and DQ scores) of the century, Heller, a special educator inare in the mentally retarded range for the ma- Vienna, described an unusual condition injority of individuals with autism (Rutter, Bai- which children appeared normal for a fewley, Bolton, & Le Couter, 1994) and maintain years and then suffered a profound regressionstability over time (Lockyer & Rutter, 1969, in their functioning and a derailment of future1970). Kanner’s impression of potentially nor- development (Heller, 1908). This conditionmal intelligence, even in the face of apparent was originally known as dementia infantilis orretardation, was based on what has proven to disintegrative psychosis; it now has officialbe a consistent finding on psychological test- status in DSM-IV as childhood disintegrativeing. Children with autism often have unusu- disorder (see Chapter 3, this Handbook, thisally scattered abilities, with nonverbal skills volume). Similarly, the year after Kanner’soften significantly advanced over more ver- original paper, Hans Asperger, a young physi-bally mediated ones (see Chapter 29, this cian in Vienna, proposed the concept of autis-Handbook, Volume 2); at the same time, chil- tic psychopathy or, as it is now known,dren with autism differ in their pattern of Asperger’s disorder (Asperger, 1944; seebehavior and cognitive development from chil- Chapter 4, this Handbook, this volume). Al-dren with severe language disorders (Bartak, though Asperger apparently was not aware ofRutter, & Cox, 1977). On the other hand, Kanner’s paper or his use of the word autism,when the focus shifts from autism, strictly de- Asperger used this same term in his descrip-fined, to the broader autistic spectrum, a tion of the marked social problems in a groupmuch broader range of IQ scores is observed of boys he had worked with. Asperger’s con-(Bailey et al., 1998). cept was not widely recognized for many The severity of the autistic syndrome led years, but it has recently received muchsome clinicians in the 1950s to speculate that greater attention and is now included in bothautism was the earliest form of schizophrenia DSM-IV and ICD-10. Another clinician, An-(Bender, 1946). Clinicians during the first dreas Rett, observed an unusual developmentaldecades of the study of autism tended to at- disorder in girls (Rett, 1966) characterized bytribute complex mental phenomena such as hal- a short period of normal development and thenlucinations and delusions to children who were, a multifaceted form of intellectual and motorand remained, entirely mute (Volkmar & Cohen, deterioration. Rett’s disorder is also now offi-1991a). In the 1970s, research findings began to cially included in the PDD class (see Chapter 5,show that these two conditions are quite dis- this Handbook, this volume).parate in terms of onset patterns, course, and The descriptions proposed by some otherfamily genetics (Kolvin, 1971; Rutter, 1972). clinicians have not fared as well. For example,
  31. 31. Issues in the Classification of Autism and Related Conditions 9Mahler, a child psychoanalyst, proposed the studies, to share knowledge among investiga-concept of symbiotic psychosis (Mahler, 1952) tors, and to encourage the development of afor children who seemed to fail in the task of body of knowledge. For clinicians and educa-separating their psychological selves from the tors, classification helps guide selection ofhypothesized early fusion with their mothers. treatments for an individual and the evaluationThis concept now has only historical interest, of the benefits of an intervention for groups ofas does her view of a “normal autistic phase” individuals with shared problems (Cantwell,of development. In contrast, Rank (1949), also 1996). For the legal system, government regu-working from the framework of psychoanaly- lation, insurance programs, and advocates,sis, suggested that there is a spectrum of dys- classification systems define individuals withfunctions in early development that affects special entitlements. If a diagnostic classifica-children’s social relations and their modula- tion system is to be effective in these variedtion of anxiety. Her detailed descriptions of domains, the system must be clear, broadly ac-atypical personality development are of con- cepted, and relatively easy to use. Diagnostictinuing interest in relation to the large number stability is an important goal; difficultiesof children with serious, early-onset distur- arise if diagnostic systems are changed toobances in development who are not autistic. rapidly, for example, interpretation of previousThese ideas were developed by Provence in her research becomes a problem. A classificationstudies of young children with atypical devel- system should provide descriptions that allowopment (Provence & Dahl, 1987; see also disorders to be differentiated from one anotherChapter 6, this Handbook, this volume). in significant ways, for example, in course or In the first (1952) and second (1968) edi- associated features (Rutter, 1996). Officialtions of the American Psychiatric Associa- classification systems must be applicable totion’s Diagnostic and Statistical Manuals only conditions that afflict individuals of boththe term childhood schizophrenia was offi- sexes and of different ages; at different devel-cially available to describe autistic children. opmental levels; and from different ethnic, so-Much of the early work on autism and related cial, and geographical backgrounds. Finally, aconditions is, therefore, difficult to interpret system must be logically consistent and com-because it is unclear exactly what was being prehensive (Rutter & Gould, 1985). Achievingstudied. As information on life course and these divergent goals is not always easy (Volk-family history became available (Kolvin, mar & Schwab-Stone, 1996).1971; Rutter, 1970), it became clear that The clinical provision of a diagnosis or mul-autism could not simply be considered an early tiple diagnoses is only one part of the diagnos-form of schizophrenia, that most autistic indi- tic process (Cohen, 1976). The diagnosticviduals were retarded, that the final behavioral process provides a richer description of a childexpression of the autistic syndrome was poten- or adult as a full person; it includes a historicaltially the result of several factors, and that the account of the origins of the difficulties anddisorder was not the result of deviant parent- changes over time, along with other relevantchild interaction (Cantwell, Baker, & Rutter, information about the individual’s develop-1979; DeMyer, Hingtgen, & Jackson, 1981). ment, life course, and social situation. TheThese findings greatly influenced the inclu- diagnostic process highlights areas of compe-sion of autism in the third edition of DSM tence, as well as difficulties and symptoms; it(American Psychiatric Association, 1980), to notes the ways the individual has adapted; itwhich we return later. describes previous treatments, available re- sources, and other information that will allowISSUES IN CLASSIFICATION a fuller understanding of the individual and his or her problems. Also, the diagnostic processSystems for classification exist for many dif- may suggest or delineate biological, psycholog-ferent reasons, but a fundamental purpose is to ical, and social factors that may have placedenhance communication (Rutter, 2002). For the individual at risk, led to the disorder,researchers, this is essential to achieve relia- changed its severity, or modified the symp-bility and validity of findings from research toms and course. The result of the diagnostic
  32. 32. 10 Diagnosis and Classificationprocess should be a rich formulation—an ac- may be tied to specific diagnostic categoriescount that will be elaborated with new knowl- (Rutter & Schopler, 1992). Such an approachedge, including the response of the individual tends, unfortunately, to emphasize the diag-to intervention. It cannot be overemphasized nostic label, rather than the diagnostic process.that while the diagnostic label or labels pro- On the other hand, if a governmental bodyvide important and helpful information, they adopts a broad diagnostic concept, the avail-do not substitute for a full and rich under- able resources may be diluted and individualsstanding of the individual’s strengths and most in need of intensive treatment may be de-weaknesses and life circumstances. Thus, pro- prived while those with less clearly definablegrams should be designed around individuals service requirements are included in programsrather than labels. (Rutter & Schopler, 1992). A diagnostic formulation, based on an ex- There are many misconceptions about diag-tended diagnostic process, is provisional and nosis and classification (see Rutter, 1996;subject to change with new information and Volkmar & Schwab-Stone, 1996; Volkmar,experience. In this sense, it is a continuing ac- Schwab-Stone, & First, 2002). For example,tivity involving the individual, family, clini- DSM-IV and similar systems of classificationcians, and educators. The diagnostic process, are organized around dichotomous categories;as a clinical activity, depends on a body of sci- in these systems, an individual either has orentific knowledge and is enriched when there does not have a disorder. Yet, classificationis a common diagnostic language used for clin- can also be dimensional, in which an individ-ical and research purposes. Information pro- ual has a problem, group of problems, or dys-vided by this process is useful at the level of function to a certain degree. Dimensionalthe individual case but also has important pub- approaches offer many advantages, as exempli-lic health and social policy implications, for fied by the use of standard tests of intelli-example, in formulating intervention strate- gence, adaptive behavior, or communication;gies and allocating resources. in many ways, such approaches have domi- Diagnostic systems lose value if they are nated in other branches of medicine and fre-either overly broad or overly narrow. The clas- quently coexist with categorical ones (seesification system must provide sufficient Rutter, 2002, for a review). Not only can thedetail to be used consistently and reliably by disease process (e.g., hypertension) be dimen-clinicians and researchers across settings. sional but also various risk factors may beWhen they achieve “official” status, as is the dimensional, and a dimensional focus has im-case for ICD and DSM, classification schemes portant advantages for advancing knowledge inhave important regulatory and policy implica- this regard. On the other hand, at some pointtions. Sometimes, there may be conflicts be- qualitative and dimensional changes (as intween scientific and clinical needs, on one blood pressure) may lead either to functionalhand, and the impact of definitions on policy, impairment or specific symptoms (e.g., a highon the other. For example, there may be good blood pressure can lead to angina), and thescientific reasons for a narrowly defined cate- categorical approach is needed to address thisgorical diagnosis that includes only individuals important implication of what is basically a di-who definitely and clearly have a specifically mensional phenomenon. Depression is a rele-defined condition and excludes individuals vant example from psychiatry; for example, allwhere there is less certainty. From the point of of us have the experience of mood fluctuationsview of service provision, however, broader di- during the course of our daily lives, but whenagnostic concepts may be most appropriate. depression becomes so significant that it be-Unfortunately, there has often been a failure to gins to interfere with functioning or causesrecognize the validity of these two tensions impairment in other ways, we can consider usearound aspects of diagnosis. of specific treatments for depression. Classification schemes of an “official” na- Dimensional and categorical classificationture may have unintended, but important, im- systems are not incompatible. It is possible toplications, for example, in terms of legal set a boundary point along a dimension thatmandates for services; this is particularly true can be used to define when a disorder is diag-in the United States where federal regulations nosed. This boundary can be determined by

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