Unraveling the Genetic Factors in Autism

Advancements in neuroscience are helping scientists understand the causes of autism.

The Seaver Autism Center provides comprehensive and personalized care for children and adults with autism spectrum disorders.

Research advances in neuroscience and genetics are helping scientists understand the causes of autism spectrum disorders (ASD), paving the path for novel treatments. ASD continues to be diagnosed at an increasingly dramatic rate. Currently, the U.S. Centers for Disease Control and Prevention estimates that ASD affects 1 in every 110 children.

The Autism Sequencing Consortium and several other international working groups based, in part, at the Seaver Autism Center for Research and Treatment are working to develop new diagnostics, treatments, and community care models by integrating the latest research in molecular and clinical genetics, as well as neuroimaging, neurology, psychology, and psychiatry.

Clinicians at the Seaver Autism Center have alliances with numerous support groups and community agencies in New York. Additionally, the center’s clinical program provides assessment and treatment for ASD, including cutting-edge genetic testing. The clinical team has unique expertise working with children, adolescents, and adults on the autism spectrum who have complex needs and who may be considered difficult to assess and treat.

Recently, there have been major breakthroughs in the understanding of the etiology of ASD. The disorder is now conceived as having multiple independent causes, which in many cases can be largely attributed to a specific genetic event. This has led to a profound shift in our thinking, raising both great challenges and great opportunities. Through genetic discovery, researchers are able to create animal models to better understand the biology of ASD and to evaluate potential new therapies.

For example, using array comparative genomic hybridization (aCGH), Seaver researchers were able to show that a deletion in the SHANK3 gene was the cause of ASD in a young patient. This finding led to important changes in medical care and genetic counseling. First, the genetic analyses showed that the deletion was spontaneous and chances of recurrence were no higher than the general population risk, thereby providing genetic counseling for the patient’s family. Furthermore, SHANK3 deletions are associated with seizures, brain cysts, and kidney abnormalities, and a surveillance program could be immediately implemented for the patient.

In recognition of these advancements, we have introduced the latest genetic tests into our clinical practice at the center. Looking towards the future, ongoing preclinical studies are identifying novel therapies in ASD, including both behavioral and pharmaceutical approaches.

Advances in molecular biology, basic and translational neuroscience, and genetics have opened up a new era in treatment development for ASD and other psychiatric conditions. Together with highly personalized and well-coordinated care, our goal is to establish best practices and develop the most effective treatments for patients.

Written by Wayne K. Goodman, MD, Professor and Chair of the Department of Psychiatry; Joseph D. Buxbaum, PhD, Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences; and Alexander Kolevzon, MD, Associate Professor of Psychiatry and Pediatrics