Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.
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.
Chow
E W
EW
Centre for Addiction and Mental Health, University of Toronto, Canada.
Mikulis
D J
DJ
Zipursky
R B
RB
Scutt
L E
LE
Weksberg
R
R
Bassett
A S
AS
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