Scientific article

Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome

Published inDevelopmental medicine and child neurology, vol. 51, no. 9, p. 746-753
Publication date2009

22q11.2 deletion syndrome (22q11.2DS) is a common genetic condition associated with cognitive and learning impairments. In this study, we applied a three-dimensional method for quantifying gyrification at thousands of points over the cortical surface to imaging data from 44 children, adolescents, and young adults with 22q11.2DS (17 males, 27 females; mean age 17y 2mo [SD 9y 1mo], range 6-37y), and 53 healthy participants (21 males, 32 females; mean age 15y 4mo [SD 8y 6mo]; range 6-40y). Several clusters of reduced gyrification were observed, further substantiating the pattern of cerebral alterations presented by children with the syndrome. Comparisons within 22q11.2DS demonstrated an effect of congenital heart disease (CHD) on cortical gyrification, with reduced gyrification at the parieto-temporo-occipital junction in patients with CHD, as compared with patients without CHD. Reductions in gyrification can resemble mild polymicrogyria, suggesting early abnormal neuronal proliferation or migration and providing support for an effect of hemodynamic factors on brain development in 22q11.2DS. The results also shed light on the pathophysiology of acquired brain injury in other populations with CHD.

  • Adolescent
  • Adult
  • Case-Control Studies
  • Cerebral Cortex/pathology
  • Child
  • Cohort Studies
  • DiGeorge Syndrome/complications/pathology
  • Female
  • Heart Defects, Congenital/complications/pathology
  • Humans
  • Imaging, Three-Dimensional
  • Magnetic Resonance Imaging
  • Male
  • Organ Size
  • Young Adult
Citation (ISO format)
SCHAER, Marie et al. Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome. In: Developmental medicine and child neurology, 2009, vol. 51, n° 9, p. 746–753. doi: 10.1111/j.1469-8749.2009.03281.x
Main files (1)
Article (Published version)
ISSN of the journal0012-1622

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