Autistic Spectrum Disorders in Children - V. Gupta (ed) (Marcel Dekker, 2004) WW

336 Pages·2004·2.01 MB·English

Autistic Spectrum
Disorders in Children

edited by
Vidya Bhushan Gupta
New York Medical College
and Columbia University
New York, New York, U.S.A.

M A R C E L

MARCEL
DEKKER,
INC.
NEW YORK * BASEL

Copyright © 2004 Marcel Dekker, Inc.

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Copyright © 2004 Marcel Dekker, Inc.

PEDIATRIC HABILITATION

Series Editor

ALFRED L. SCHEWER

1.

2.

3.

4.

5.
6.

7.

8.

9.

10.

11.

12.

Joan and Sanford 1. Weill Medical College
Cornell Universdy
New Yo&, New York

Prevention of Mental Retardation and Other Developmental Disabilities,
edited by Michael K. McCormack
Developmental Disabilities: Management Through Nutrition and Medica-
tion, Eric Denhoff and Steven Feldman
Early Diagnosis and Therapy in Cerebral Palsy, Alfred L. Scherzer and
Ingrid Tscharnuter
Parenting Children with Disabilities: A Professional Source for Physicians
and Guide for Parents, Peggy Muller Miezio
Visual Disorders in ths Handicapped Child, John L. Goble
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
Attention Deficit Disorders and Hyperactivity in Children: Early Diagnosis
and Intervention, edited by Pasquale J. Accardo, Thomas A. Blondis, and
Barbara Y. Whitman
Medical Care in Down Syndrome: A Preventive Medicine Approach, Paul
T. Rogers and Mary Coleman
Manual of Developmental and Behavioral Problems in Children, Vidya
Bhushan Gupta
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
Early Diagnosis and lnterventional Therapy in Cerebral Palsy: An Inter-
disciplinary Approach, Third Edition, edited by Alfred L. Scherzer
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
Gertrude H. Sergievsky Center, Columbia University, New York, New York. Dr. Gupta is
the author, coauthor, editor, or coeditor of three books, four book chapters, and numerous
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
expert to the 2003 American Academy of Pediatrics committee for early intervention and
autism and the 2004 Pediatric Subspecialty Care/Medical Home panel organized by the
U.S. Department of Health and Human Services, Dr. Gupta received the M.B.B.S. (1971)
and M.D. (1976) degrees from the University of Delhi, New Delhi, India, and the M.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 new editions when 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, the autistic spectrum disorders. These changes reflect advances in obstetric
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.

dealing with etiology, diagnosis, therapy services, treatment, and pharmacological
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 family of 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 the work. 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
have an important role in helping to clarify and unify current understanding of the
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

Only a few decades ago, autism was a medical curiosity, conjuring up visions of 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 to whether the prevalence of autism has truly increased or data
merely reflect heightened awareness of the condition. It is now agreed that autism
occurs along a spectrum, with only a few children manifesting the full range of
symptoms. Inclusion of milder and atypical 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 have an 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 of autism, 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
current scientific research and the health care climate. We hope that this 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
Alfred L. Scherzer
Preface
Contributors

1.
History, Definition, and Classification of Autistic Spectrum
Disorders
Vidya Bhushan Gupta

2.
The Epidemiology of Autism and Autism Spectrum Disorders
Tanya Karapurkar, Nora L. Lee, Laura Kresch Curran,
Craig J. Newschaffer, and Marshalyn Yeargin-Allsopp

3.
Etiology of Autism
Vidya Bhushan Gupta

4.
Neurological Basis of Autism
Vidya Bhushan Gupta

5.
Early Clinical Characteristics of Children with Autism
Chris Plauche´ Johnson

6.
Screening and Diagnosis for Autistic Spectrum Disorders
Pasquale J. Accardo

Copyright © 2004 Marcel Dekker, Inc.