Project Summary

Jacob A.S. Vorstman, M.D. (Young Investigator 2006) of the Children's Hospital of Philadelphia/University of Pennsylvania, will study the relationship between autism and schizophrenia by focusing on the 22q11.2 deletion syndrome (22q11 DS), a genetic mutation that increases risk of both disorders. Dr. Vorstman seeks to answer the following: 1) Is autistic development in 22q11 DS associated with schizophrenia in early adulthood? Psychiatric assessment will be performed in 90 adults with the 22q11 DS to determine whether schizophrenia patients have more features of autistic development than patients without schizophrenia. Further, an adolescent 22q11 DS-sample (currently 60) will be followed longitudinally to determine whether autistic children are more likely to develop psychosis in subsequent years. 2) Are specific genetic characteristics associated with schizophrenia? Measured characteristics include the exact extent of the deletion and variation of selected genes within the deleted region. Possible associations between these genetic features and schizophrenia will be analyzed. Findings, if successful, will most likely provide valuable information regarding the biological mechanisms that can lead to schizophrenia and greater understanding of the connection between autism and schizophrenia.

Program Area: MULTIPLE FOCUS\Autism/Schizophrenia

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