Autism spectrum disorders (ASDs) are devastating, lifelong neurological disorders that are characterized clinically by severe, pervasive impairment in communication skills and in reciprocal social interaction skills. Stereotyped behavior and interests are typical. In many cases, autism is accompanied by intellectual disability as well as seizures. Austim spectrum disorders cause significant hardships for the affected children and adults, as well as their families, schools and communities.
Today, the diagnosis of autism spectrum disorders is based upon clinical criteria. There are no known biological causes. There are very few proven neurochemical, genetic, neuroanatomical, neurophysiological, structural, metabolic, or other molecular differences between these patients and the normal population.
We have developed a series of software tools that help to detect chromosomal abnormalities in SNP and sequence data. We have applied these to many patients with ASDs.
Recently Dr. Pevsner collaborated with Illumina, Inc. to develop a targeted autism panel. This panel is useful for either clinical or research purposes to enrich and sequence the exons corresponding to 101 genes previously implicated in ASDs.