Journal of Heredity Advance Access originally published online on March 23, 2005
Journal of Heredity 2005 96(4):471-472; doi:10.1093/jhered/esi050
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Book Review |
The Neurobiology of Autism, 2nd edition
Margaret L. Bauman, MD and Thomas L. Kemper, MD, editors.Johns Hopkins University Press, Baltimore, Maryland. 2005.
In 1943, Leo Kanner, a child psychiatrist at the Johns Hopkins School of Medicine, described the behavioral profile of 11 boys in an article titled, "Autistic Disturbances of Affective Contact." Salient features were impaired social development, impaired language and communication skills or language delay with unusual communication skills, resistance to change, insistence on sameness (inflexible routines, motor mannerisms, and repetitive behaviors), and an onset prior to age 3 years. Kanner postulated a deficiency in mother-child social-emotional communication as the primary etiology. This was the first clinical description of autism. Kanner's keen clinical acumen provided an enduring description of autism in children that has not been altered for the past 60 years. However, he did not recognize the sampling bias in the boys in his study, an error that led to the conclusion that a blunted maternal affective communication style led to autism.
In the ensuing six decades, research scientists and clinicians in biology, genetics, psychiatry, and neuropsychology have pursued the etiology and treatment of autism. Although considerable progress has been made in our understanding of the disorder, in most cases a specific cause is not determined and treatment responses are variable among individuals with autism. Autism is not unlike most neurobehavioral disorders, where a distinct etiology remains elusive—not only for scientists, but also for clinicians who care for these patients, their parents, and other family members who seek effective therapies.
The second edition of The Neurobiology of Autism is a multiauthor book that provides the reader with focused discussions about a wide range of research in the field of autism. Four major sections include clinical observations, neuroanatomy, genetics, and neurobiology. The 27 chapters within these categories are clearly written descriptions of the current research in each field. The editors, Margaret Bauman and Thomas Kemper, and the authors of each chapter are active researchers who strive to reach the editors' goal to "have this information readily available in a single resource ... [to] assist and stimulate present and future investigators to consider a broad range of novel research questions ... to aid in early diagnosis and to develop more focused and effective treatments."
As a clinician in developmental and behavioral pediatrics, I found this book to be intellectually stimulating and useful in my work with children with autism and their families. One is immediately struck by the breadth of scientific investigation in diverse fields and the creative energy available to address the most important questions of discovery. Clinicians who read this book will learn about the most recent discoveries focused on specific regions of the brain that may be altered anatomically and physiologically in individuals with autism, genetic investigations in candidate susceptibility genes for autism, specific chromosome deletions and duplications found on chromosomes 7 and 15, and the biology of brain receptors associated with autistic behaviors. I was especially interested in the discovery of an animal model of virus-induced autism (borna disease virus infection in neonatal rats).
This review of the science of autism is awesome—both the breadth of studies described and the descriptions of each topic, followed in most chapters by a clear summary statement. The section on clinical observations includes chapters on epidemiology (Is the prevalence of autism increasing?), language, memory and executive function, the role of the gastrointestinal tract, and psychopharmacology. There is a fascinating chapter on the vagus nerve as a mediator of behavioral and physiologic functions. The editors of the book, who have contributed original studies on the neuropathology of autism, introduce the section on neuroanatomic investigations with a detailed discussion of microscopic brain anatomy in autism. Chapters on the brainstem, the orbitofrontal-amygdala system, positron emission tomography, and myelin distribution and maturation in autism are highlighted.
The section on genetics initiatives is among the most detailed covered in this book. Prevsner points out that gene expression in autism may include a primary gene defect and various secondary effects that occur in affected cells. Rett's disorder is reviewed as an example where mutations in the MECP2 gene lead to failure of cells to repress thousands of genes. This idea is expanded in another chapter by Haggerman, who describes the clinical and genetic correlations in fragile X syndrome. Autistic features are seen frequently in persons with Rett's disorder and fragile X syndrome. A chapter on tuberous sclerosis reviews recent genetic studies of this neurocutaneous disorder. In another chapter, genetic variability in the dopamine and norepinephrine transporters found in autistic individuals is correlated with behavior and pharmacotherapy. The final section on neurobiologic research reviews studies on serotonin, the GABAergic and cholinergic systems, reelin (an extracellular matrix protein that may regulate specific brain structures), brain-derived neurotrophic factor, and the immune system in autism.
Throughout the book, the editors have taken care to ensure that the writing is clear and the information is written in a style that is available to both clinicians and scientists. Each chapter includes useful references. Young investigators, seasoned scientists, and clinicians will find this book an effective way to survey a variety of scientific fields in the area of autism. I agree with the editors that the book encourages cross-fertilization of ideas that may lead to important discoveries in the future. At the least, this volume shows the significant progress made since the initial cause of autism was mistakenly linked to mother-child affective communication pattern.
Department of Pediatrics, University of California–San Diego, Children's Hospital San Diego, San Diego, CA 92103
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