Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome

An integrative study

Tony J Simon, Lijun Ding, Joel P. Bish, Donna M. McDonald-McGinn, Elaine H. Zackai, James Gee

Research output: Contribution to journalArticle

158 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)169-180
Number of pages12
JournalNeuroImage
Volume25
Issue number1
DOIs
StatePublished - Mar 2005

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DiGeorge Syndrome
Chromosome Deletion
Brain
Developmental Disabilities
Inborn Genetic Diseases
Corpus Callosum
Anisotropy
Intellectual Disability
Cerebrospinal Fluid
Population
White Matter

Keywords

  • Brain
  • Children
  • Corpus callosum

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Neurology

Cite this

Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome : An integrative study. / Simon, Tony J; Ding, Lijun; Bish, Joel P.; McDonald-McGinn, Donna M.; Zackai, Elaine H.; Gee, James.

In: NeuroImage, Vol. 25, No. 1, 03.2005, p. 169-180.

Research output: Contribution to journalArticle

Simon, Tony J ; Ding, Lijun ; Bish, Joel P. ; McDonald-McGinn, Donna M. ; Zackai, Elaine H. ; Gee, James. / Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome : An integrative study. In: NeuroImage. 2005 ; Vol. 25, No. 1. pp. 169-180.
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