Autism Spectrum Disorder Research

Autism Spectrum Disorder (ASD) is defined in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) by symptoms in the domains of social communication and social interaction, as well as restricted and repetitive patterns of behavior and interests. In addition to those defining features, many individuals with ASD also have accompanying symptoms in the domains of attention, executive functioning, anxiety, and sleep / circadian rhythms.

Unlike most previous autism genetics studies, the University of Pennsylvania ASPE Program is focusing on recruiting individuals with ASD without intellectual disability, which will lead to new insights into the genomics and biology of the entire autism spectrum. These insights ultimately will help us to develop improved diagnosis and treatments, and improve the quality of life of individuals on the spectrum and their families.

Additionally, the University of Pennsylvania ASPE Program is recruiting individuals with NRXN1 gene variants (also known as 2p16.3 variants such as deletions). For more information on our neurexin research and recruitment, see our Neurexin Research Page.