title: Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome.
abstract: Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with cognitive deficits and morphometric brain abnormalities in childhood and a markedly elevated risk of schizophrenia in adolescence/early adulthood. Determining the relationship between neurocognition and neuroimaging findings would yield crucial information about childhood neurodevelopment and provide a basis for the study of the trajectory that occurs on the pathway to psychosis. We compared morphometric brain findings between non-psychotic children with 22q11DS (n = 22) and healthy controls (n = 16), and examined the association between neurocognitive functioning and morphometric brain findings. Volumetric regional gray matter differences between the 22q11DS and control subjects were measured, and correlations of the regional gray matter volumes and neurocognition were performed. Children with 22q11DS demonstrated reductions in gray matter in several brain regions, chiefly the frontal cortices, the cingulate gyrus and the cerebellum. The volumetric reductions in these salient areas were associated with poor performance in sustained attention, executive function and verbal memory; however, the relation of brain volume with cognitive performance did not differ between the patient and control groups. Thus, children with 22q11DS demonstrate gray matter reductions in multiple brain regions that are thought to be relevant to schizophrenia. The correlation of these volumetric reductions with poor neurocognition indicates that these brain regions may mediate higher neurocognitive functions implicated in schizophrenia.
authors: Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA. vandana.shashi@duke.edu
authors: Vandana
authors: V
authors: Shashi
authors: Thomas R
authors: TR
authors: Kwapil
authors: Jessica
authors: J
authors: Kaczorowski
authors: Margaret N
authors: MN
authors: Berry
authors: Cesar S
authors: CS
authors: Santos
authors: Timothy D
authors: TD
authors: Howard
authors: Dhruman
authors: D
authors: Goradia
authors: Konasale
authors: K
authors: Prasad
authors: Diwadkar
authors: D
authors: Vaibhav
authors: Rajaprabhakaran
authors: R
authors: Rajarethinam
authors: Edward
authors: E
authors: Spence
authors: Matcheri S
authors: MS
authors: Keshavan
mesh_terms: D000293:Adolescent; D001288:Attention; D001921:Brain / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D003072:Cognition Disorders / Q000473:pathology*; D004062:DiGeorge Syndrome / Q000473:pathology*; D056344:Executive Function; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006179:Gyrus Cinguli / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008568:Memory; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology*; D009483:Neuropsychological Tests; D009929:Organ Size