title: Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study.
abstract: Chromosome 22q11.2 deletion syndrome is a highly prevalent genetic disorder whose manifestations include developmental disability and sometimes mental retardation. The few studies that have examined brain morphology in different samples from this population have found similar general patterns, mostly using region of interest measures. We employed voxel-based techniques to concurrently examine specific morphologic changes in multiple brain tissue measures. Results were similar to previous findings of volumetric reductions in the posterior brain. They also extended them in two ways. First, our methods provided greater specificity in the localization of changes detected. Second, the combination of our measures of gray and white matter along with cerebrospinal fluid volume and fractional anisotropy, which indicates the structure of white matter, showed a posterior displacement of and morphologic changes to the corpus callosum in affected children.
authors.affiliation: Children's Hospital of Philadelphia, 3535 Market Street, Room 1425, Philadelphia, PA 19104, USA. tony.simon@ucdmc.ucdavis.edu
authors.forename: Tony J
authors.initials: TJ
authors.lastname: Simon
authors.forename: Lijun
authors.initials: L
authors.lastname: Ding
authors.forename: Joel P
authors.initials: JP
authors.lastname: Bish
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: James
authors.initials: J
authors.lastname: Gee
mesh_terms: D000293:Adolescent; D000367:Age Factors; D001921:Brain / Q000473:pathology*; D002508:Cephalometry / Q000706:statistics & numerical data; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003196:Computer Graphics; D003337:Corpus Callosum / Q000473:pathology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008432:Mathematical Computing; D012016:Reference Values; D015203:Reproducibility of Results; D013577:Syndrome