From the time of its first description in the 1940s, autism has been considered a rare disorder. The often bizarre combination of strange interpersonal interactions, minimal or absent language and nonverbal communication, and strange behaviors left a vivid impression on the physician caring for such a child.
The system for categorizing such children was inadequate, leaving physicians with descriptions of puzzling rituals and other unusual features as they attempted to decipher potential causes and treatments for these patients. The cold, insensitive attitude toward people in their environment, coupled with the often flat affect and withdrawal of the parents, led Kanner1 to consider the possibility that the disorder was environmental in origin, an infant's response to a mother who was not sufficiently nurturing.
Studies began to unravel the disorder during the ensuing years, finding that the parent's behavior was more likely a response to an infant who did not respond positively to normal, nurturing caregiving. Additional reports of children developing words and functional skills, only to regress in their abilities, made the syndrome more confusing. Early treatments focused on the parent-child relationship, and a variety of methods were used for treatment. Advances in the diagnosis of numerous disorders through sophisticated laboratory tests, metabolic studies, and chromosome analysis led to more scientific analysis of the disorder but, until recently, were still largely unhelpful. Pediatricians were humbled when they encountered these individuals, and frustrated with a disorder for which so little was known in terms of diagnosis and treatment.
Advances in medicine begin with clinical observation and discussion. From this comes the generation of hypotheses of causation and potential treatments, followed by clinical trials of the proposed treatments. Outcomes of such studies bring us back to further observation and refinement of hypotheses, and the cycle continues.
Observation of individuals with autism led to more critical descriptions of the fundamental clinical abnormalities, and refinement of the criteria used for diagnosis of the disorder. In the field of behavioral and mental disorders, progress has been marked through the ongoing evolution of the Diagnostic and Statistical Manual of Mental Disorders, now in its fourth edition (DSM-IV), the standard for diagnosing autism in the United States.
This issue of Pediatric Annals is focused on the autistic spectrum disorders. Although the current accepted medical terminology used by the DSM-IV is pervasive developmental disorders (PDD) and their sub-categories, the term "autism" is still widely used. The term "autistic spectrum disorders" is common among the families presenting to pediatrician's offices with concerns about these disorders. The topics of the various articles in this issue address the most common concerns pediatricians face with these families.
Why is there such an interest in autism? Is there an epidemic?
Many physicians have wondered about these questions, as record numbers of individuals are being identified with an autistic spectrum disorder. Drs. Daniel Coury and Patricia Nash examine the epidemiology of these disorders and shed light on the apparent increasing prevalence and contributing factors. Changes in terminology, identification of cases, and other methodologic differences in answering questions are reviewed and clarified.
How does one accurately identify and diagnose autism?
There have been numerous changes over the past 50 years. Advances in our understanding of hundreds of medical conditions have been made through improved laboratory techniques and tests, clinical trials, and serendipity. The multinational initiative known as the Human Genome Project has provided a great deal of information pertinent to the autistic spectrum disorders, especially Rett's Disorder. Further research over the next few decades will bring new revelations, and with them, new diagnostic tools. Drs. Nash and Coury review the current diagnostic criteria, methods of identifying pertinent behavioral symptomatology, and useful screening and diagnostic instruments.
What can be done to help individuals with an autistic spectrum disorder?
Once any patient is diagnosed an effective management plan is needed, and there is significant confusion and controversy over what should be done for individuals with an autistic spectrum disorder. Drs. Eric Butter, Jacqueline Wynn, and James Mulick examine the use of intensive behavioral interventions in the treatment of autism. Applied behavior analysis (ABA) or the Lovaas technique, named for the psychologist first demonstrating its effectiveness in treating autism, is recognized as effective, and is becoming more widely available.
Drs. Ronald Lindsay and Michael Aman review the pharmacologic treatment of symptomatic behaviors seen in autism, ranging from hyperactive behavior to perseverative and repetitive behaviors. Their discussion of the range of medications and the data to support their use will be of interest to most pediatricians encountering these cases.
Drs. Susan Hyman and Susan Levy present a compendium of controversial treatments espoused for the autistic disorders, data supporting or refuting their effectiveness, and suggestions for helping families seeking these treatments. Their expertise in this area provides wise counsel for primary care physicians.
A resident's perspective on autism and the autistic spectrum disorders is provided by Dr. Shannon Standridge, a second year resident at Columbus Children's Hospital in Columbus, Ohio.
1. Kanner L. Autistic disturbances of affective contact. Nervous Child. 1943;2:217250.