The neurological origins of autism are still incompletely understood. Here, we seek further insights into underlying causes, through the study of a large cohort of patients with a specific gene variation (‘16p deletion’), which has been highly associated with autism and related neurodevelopmental disorders. Importantly, carriers of the 16p deletion, despite sharing the same single-source deletion, show great variation in the magnitudes of deficit expression: some are severely impaired behaviorally, whereas others show normal levels of performance. A more complete characterization of deficits should help determine the true phenotype for 16p deletion individuals, and shed new light on the origins of autism.
Here, we propose to comprehensively assess perceptual, cognitive, and executive control deficits in the 16p deletion population using a novel, multi-part, online, web-based assessment tool-set. This extensive battery is designed to provide a complete profile of neurological abilities in five great brain systems. Because the battery is delivered online using any internet-connected computer, this inexpensive strategy can be rapidly and efficiently administered to this large patient cohort. Because the difficulty level of the assessments is scaled based on individual performance, effective measurements can be achieved even in lower functioning individuals.
In this project, we will administer this comprehensive battery to at least 60 16p deletion carriers. The derived data should: help us determine specific brain functions attributable to this genetic fault; result in a clearer understanding of the links between genetic and cognitive deficits; and contribute to our understanding of the true neurological causes of autism. Upon successful completion of this project, we plan to pursue a follow-up project to establish which of the identified cognitive deficits are ameliorated by online training. This approach should eventually lead to the development of more effective interventions for autism, and help reduce the great burdens associated with this disorder.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
