ACKNOWLEDGEMENT This research was supported by Swiss National Research Funds (grant 323500-111165 to MS and grants 3200-063135, 3232-063134, and PP00B-102864 to SE) and by NARSAD Institute, the Center for Biomedical Imaging of the Geneva - Lausanne Universities, the EPFL, as well as the Leenaards and Louis-Jeantet foundations (http://www.cibm.ch).
Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome
Article first published online: 11 MAR 2009
© The Authors. Journal compilation © Mac Keith Press 2009
Developmental Medicine & Child Neurology
Volume 51, Issue 9, pages 746–753, September 2009
How to Cite
SCHAER, M., GLASER, B., CUADRA, M. B., DEBBANE, M., THIRAN, J.-P. and ELIEZ, S. (2009), Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome. Developmental Medicine & Child Neurology, 51: 746–753. doi: 10.1111/j.1469-8749.2009.03281.x
- Issue published online: 6 AUG 2009
- Article first published online: 11 MAR 2009
- PUBLICATION DATA Accepted for publication 3rd November 2008. Published online 11th March 2009.
Vol. 51, Issue 12, 1005, Article first published online: 2 NOV 2009
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.