Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia

Background: A genetic syndrome associated with schizophrenia, 22q11 deletio n syndrome (22qDS), may represent a genetic subtype of schizophrenia (22qDS -Sz), Structural brain changes are common in schizophrenia and may involve developmental anomalies, but there are no data yet for 22qDS-Sz. The object ive of this study was to assess brain structure in adults with 22qDS-Sz rui ng magnetic resonance imaging (MRI). Methods: Brain and arterial MRI scans of II adults with 22qDS-Sz (mean age = 28.4 years, SD = 6.5) were systematically assessed by a neuroradiologist for qualitative anomalies. Results: A high frequency of abnormalities were found: T2 white matter brig ht foci (BF), 90%; developmental midline anomalies, 45%; cerebral atrophy o r ventricular enlargement, 54%; mild cerebellar atrophy, 36%; skull base ab normalities, 55%; and minor vascular abnormalities, 36%. Conclusions: BF and skull base abnormalities, especially in association wit h neurodevelopmental midline abnormalities, may be distinguishing MRI featu res for a genetic subtype of schizophrenia involving a deletion an chromoso me 22. Biol Psychiatry 1999;46:1436-1442 (C) 1999 Society of Biological Psy chiatry.