Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2).
BACKGROUND
This study evaluated differences in caudate volumes in subjects with velo-cardio-facial syndrome due to a 22q11.2 (22qDS) deletion. Because psychosis is observed in 30% of adult subjects with 22qDS, this neurogenetic disorder could represent a putative model for a genetically mediated subtype of schizophrenia.


METHODS
Caudate volumes were measured on high-resolution magnetic resonance images in 30 children and adolescents with 22qDS and 30 gender- and age-matched normal comparison subjects.


RESULTS
Caudate head volumes were increased in the 22qDS group independent of neuroleptic medications. Subjects with 22qDS also displayed an abnormal pattern of asymmetry in the anterior caudate, with left side greater than right.


CONCLUSIONS
Alterations in the basal ganglia circuitry have been implicated in learning, cognitive, and behavioral problems in children and therefore could be involved in the expression of the neurobehavioral phenotype expressed by subjects with 22qDS. Abnormal caudate volume is a neurodevelopmental feature shared with schizophrenia, further establishing 22qDS as a potential neurodevelopmental model for this disorder.
Eliez
Stephan
S
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.
Barnea-Goraly
Naama
N
Schmitt
J Eric
JE
Liu
Yung
Y
Reiss
Allan L
AL
D000293:Adolescent; D001479:Basal Ganglia / Q000002:abnormalities*; D016022:Case-Control Studies; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging