title: Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.
abstract: BACKGROUND
  A genetic syndrome associated with schizophrenia, 22q11 deletion 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 objective of this study was to assess brain structure in adults with 22qDS-Sz using magnetic resonance imaging (MRI).
  
  
  METHODS
  Brain and arterial MRI scans of 11 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 bright foci (BF), 90%; developmental midline anomalies, 45%; cerebral atrophy or ventricular enlargement, 54%; mild cerebellar atrophy, 36%; skull base abnormalities, 55%; and minor vascular abnormalities, 36%.
  
  
  CONCLUSIONS
  BF and skull base abnormalities, especially in association with neurodevelopmental midline abnormalities, may be distinguishing MRI features for a genetic subtype of schizophrenia involving a deletion on chromosome 22.
authors.affiliation: Centre for Addiction and Mental Health, University of Toronto, Canada.
authors.forename: E W
authors.initials: EW
authors.lastname: Chow
authors.forename: D J
authors.initials: DJ
authors.lastname: Mikulis
authors.forename: R B
authors.initials: RB
authors.lastname: Zipursky
authors.forename: L E
authors.initials: LE
authors.lastname: Scutt
authors.forename: R
authors.initials: R
authors.lastname: Weksberg
authors.forename: A S
authors.initials: AS
authors.lastname: Bassett
mesh_terms: D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002536:Cerebral Arteries / Q000002:abnormalities; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012559:Schizophrenia / Q000235:genetics*; D019291:Skull Base / Q000473:pathology; D013577:Syndrome