Our Research

The Puzzle of Autism
Infantile autism is a behaviorally defined disorder with a prevalence rate of 15 per 10,000, making it as common as Down Syndrome. A devastating lifelong disorder, autism leaves those affected socially isolated, seriously disturbed by loud sounds and tactile sensations, significantly language impaired, rigid, and routine-bound in their daily activities. Most autistic individuals are mentally retarded and those with normal or near-normal intelligence find it difficult to live independently because of their seriously impaired social skills, language disability, and abnormal learning and coping styles. Thus, those affected with autism place a substantial economic burden on the educational system as well as federal, state and private health care programs. The emotional, social and financial impact on families is complex and broad ranging.

For many years, psychologists blamed autism on cold, unresponsive parents who failed to nurture their infants adequately. Thus, parents suffered twice-they felt the pain of being unable to reach and help their child, and they were made to feel that they themselves were to blame. Though no longer blamed on "refrigerator" parents, the exact cause of autism remains unknown, and the methods of treating the condition are varied and experimental.

The exact cause of autism remains unknown and the methods of treating the condition remain varied and experimental, resulting in inconsistent outcomes. Over the last decade, clinical and biological research on autism has progressed slowly with, however, significant advances. It has become apparent that autism is a disorder of the developing nervous system and is probably of prenatal onset.

Use of Brain Tissue in Our Research
The most important aspect of our research is to discovering the cause and the cure for autism and related disorders. In this race against time, we are constantly investigating new avenues as well as seeking out other labs to work in conjunction with our lab, in order to examine every possible aspect of this disorder. Over the years we have continually received brain tissue and thus created one of the largest collections of brain tissue in the world. This brain tissue is being used in a number of ways, for our own research, a large portion of it is being used by the Autism Research Consortium, and lastly we are inviting other researchers to present to us respectable and important project that can make good use of this limited brain tissue.

Neurobiology of Autism
Infantile autism is a behaviorally defined disorder with a prevalence rate of 15 per 10,000, making it as common as Down Syndrome. A devastating lifelong disorder, autism leaves those affected socially isolated, seriously disturbed by loud sounds and tactile sensations, significantly language impaired, rigid, and routine-bound in their daily activities. Most autistic individuals are mentally retarded and those with normal or near-normal intelligence find it difficult to live independently because of their seriously impaired social skills, language disability, and abnormal learning and coping styles. Thus, those affected with autism place a substantial economic burden on the educational system as well as federal, state and private health care programs. The emotional, social and financial impact on families is complex and broad ranging.

For many years, psychologists blamed autism on cold, unresponsive parents who failed to nurture their infants adequately. Thus, parents suffered twice-they felt the pain of being unable to reach and help their child, and they were made to feel that they themselves were to blame. Though no longer blamed on "refrigerator" parents, the exact cause of autism remains unknown, and the methods of treating the condition are varied and experimental.

The exact cause of autism remains unknown and the methods of treating the condition remain varied and experimental, resulting in inconsistent outcomes. Over the last decade, clinical and biological research on autism has progressed slowly with, however, significant advances. It has become apparent that autism is a disorder of the developing nervous system and is probably of prenatal onset.

Over the past several years, members of our research team have conducted systematic, quantitative and semi-quantitative studies in brains of autistic subjects and have identified two different processes. One is a curtailment of normal development that affects the limbic system, a system important for learning. The second process affects the cerebellum and areas related to it. In the latter, nerve cells in specific areas in the brains of autistic children are unusually large but unusually small or absent in autistic adults. These observations suggest an active pathological process is occurring during childhood in these areas. The clinical significance of these changes in the cerebellum and its related areas is uncertain. These observations, which have been made from a systematic survey of serial sections of the entire brain of autistic individuals and suitable controls, have permitted us to identify the areas of the brain that are affected in autistic individuals. This investigative approach, however, has it's limitations in that it is not suitable for modern molecular biological techniques and, for technical reasons, is not suitable for neuronal cell counting with modern stereological methods.

Using modern molecular and stereologic cell counting techniques, we plan to extend our initial studies by quantitatively analyzing selected cortical, limbic, cerebellar and brainstem regions from another series of autistic brains, to correlate these findings with volumetric magnetic resonance imaging (MRI) analysis in these same brains, and to compare the resulting patterns of microscopic abnormality with detailed clinical profiles obtained on each subject. Further, we will look for the presence of active gliosis and reactive microglia as evidence for scar formation or a progressive process, and will begin to explore selected neurotransmitter systems in brainstem and limbic system structures which have been implicated in neuropharmacological and other studies in the brain in autism.

With these studies, we will be able to further explore the details of the specific brain regions that are most affected in autism, paving the way for further research, including neurochemical, immunocytochemical and modern molecular biological surveys of these regions. Because it would be impractical to conduct these studies on an entire brain, further refinement of the localization of the brain abnormalities in autism will be critically important. It is hoped that these proposed investigations will help guide possible effective medical treatments and lead to a cure for this devastating disorder.

Dr. Margaret Bauman & Dr. Thomas Kemper have been at the forefront of research into autism. They were the first group to report abnormal anatomic changes in the brain and have worked actively to show that autism is not due to cold, unresponsive parents as was believed in the 1960s and 1970s by psychologists. The Autism Research Foundation (TARF) has been the world leader in research pertaining to the pathology of the brain in autism and related disorders. TARF researchers have widely published their research results and lecture regularly on autism, its relation to memory, and behavioral disorders.

The Autism Research Consortium
In June 1996, we began our most exciting initiative to date. We brought together a small group of investigators, some of whom were directly involved in autism research and others who work in related fields, to form a "think tank" in order to discuss how to best utilize this valuable and limited tissue resource. It was decided that a multidisciplinary, integrated and coordinated approach would stand the best chance of maximizing the use of this tissue. To that end, the Autism Research Consortium (ARC) was formed. Current members of this research team include:

George M. Anderson, Ph.D, Yale University School of Medicine
Margaret L. Bauman, MD, Massachusetts General Hospital, Boston
Gene Blatt, Ph.D, Boston University School of Medicine
Edwin H. Cook, MD, University of Chicago
Jeanette Holden, Ph.D, Ongwanada Resource Center, Kingston, Ontario
Thomas L. Kemper, MD, Boston University School of Medicine
Marcie MacDonald, Ph.D, Massachusetts General Hospital
Francesca Persichetti, Ph.D, Massachusetts General Hospital
Jonathan LR Rubenstein, Ph.D, University of California at San Francisco
Stephen Vincent, Ph.D, Brain Tissue Resource Center, Belmont, MA
Gary L. Wenk, Ph.D, The University of Arizona
Andrew Zimmerman, MD, Kennedy Krieger Institute and Johns Hopkins University