Trial Information

Studies of Autistic Patients: Gene Networks and Clinical Subtypes

The aim of this protocol is to provide further elucidation of the clinical phenotype of
autism, and second to characterize a potential cellular phenotype through the
re-programming of fibroblasts into induced pluripotent stem cells (iPS cells). The scope of
autistic spectrum disorders (ASD) is defined by its behavioral symptoms, encompassing a
group of conditions that includes Asperger disorder, autism and pervasive developmental
disorder-not otherwise specified (PDD). The clinical presentation of each of these
diagnostic groups differs slightly, but all share three common features: deficits in social
reciprocity, delays or deficits in communication (both verbal and non-verbal) and presence
of repetitive behaviors and fixated interests. These symptoms are most pronounced in the
autism group, so they will serve as the subjects for this pilot investigation. Individual
differences in behavioral symptoms, genetic abnormalities, medical comorbidities and other
risk factors will be assessed. These approaches will be coupled with computational
approaches to identify neural networks by analysis of gene association study data, and
analysis of gene databases to relate the diagnostic criteria of autism by unbiased analysis
of the ontology of genes relevant to CNS function.