Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings

• Published in: Behavioral and brain functions 2012-08, Vol.8 (1), p.38-38, Article 38
• Main Authors: Radoeva, Petya D, Coman, Ioana L, Antshel, Kevin M, Fremont, Wanda, McCarthy, Christopher S, Kotkar, Ashwini, Wang, Dongliang, Shprintzen, Robert J, Kates, Wendy R
• Format: Article
• Language: English
• Subjects: 22q11.2 deletion; Adolescent; Anisotropy; Brain - pathology; Brain Mapping; Cerebellum; chromosome 22; Chromosome deletion; Cingulum; Cognitive ability; Diffusion Tensor Imaging; DiGeorge Syndrome - genetics; DiGeorge Syndrome - pathology; DiGeorge Syndrome - psychology; DTI; Executive function; Female; Frontal lobe; Humans; Image Processing, Computer-Assisted; Intelligence; LDDMM; Longitudinal Studies; Male; Mental disorders; Nerve Fibers, Myelinated - pathology; Nerve Net - pathology; Neural networks; Neuropsychological Tests; Psychology; Risk factors; Short term memory; Siblings; Social interactions; Substantia alba; superior cerebellar peduncle; Thalamus; VCFS; White matter; Young Adult
• ISSN: 1744-9081; 1744-9081
• DOI: 10.1186/1744-9081-8-38

Velo-cardio-facial syndrome (VCFS, MIM#192430, 22q11.2 Deletion Syndrome) is a genetic disorder caused by a deletion of about 40 genes at the q11.2 band of one copy of chromosome 22. Individuals with VCFS present with deficits in cognition and social functioning, high risk of psychiatric disorders, volumetric reductions in gray and white matter (WM) and some alterations of the WM microstructure. The goal of the current study was to characterize the WM microstructural differences in individuals with VCFS and unaffected siblings, and the correlation of WM microstructure with neuropsychological performance. We hypothesized that individuals with VCFS would have decreased indices of WM microstructure (fractional anisotropy (FA), axial diffusivity (AD) and radial diffusivity (RD)), particularly in WM tracts to the frontal lobe, and that these measures would be correlated with cognitive functioning. Thirty-three individuals with VCFS (21 female) and 16 unaffected siblings (8 female) participated in DTI scanning and neuropsychological testing. We performed an atlas-based analysis, extracted FA, AD, and RD measures for 54 WM tracts (27 in each hemisphere) for each participant, and used MANOVAs to compare individuals with VCFS to siblings. For WM tracts that were statistically significantly different between VCFS and siblings (pFDR