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

Authors

  • MARIE SCHAER MD PHD,

    1.  Service Médico-Pédagogique, Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland.
    2.  Signal Processing Institute, Swiss Federal Institute of Technology, Lausanne, Switzerland.
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  • BRONWYN GLASER MA,

    1.  Service Médico-Pédagogique, Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland.
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  • MERITXELL BACH CUADRA PHD,

    1.  Signal Processing Institute, Swiss Federal Institute of Technology, Lausanne, Switzerland.
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  • MARTIN DEBBANE PHD,

    1.  Service Médico-Pédagogique, Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland.
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  • JEAN-PHILIPPE THIRAN PHD,

    1.  Signal Processing Institute, Swiss Federal Institute of Technology, Lausanne, Switzerland.
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  • STEPHAN ELIEZ MD

    1.  Service Médico-Pédagogique, Department of Psychiatry, University of Geneva School of Medicine, Geneva, Switzerland.
    2.  Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, Switzerland.
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Errata

This article is corrected by:

  1. Errata: Erratum Volume 51, Issue 12, 1005, Article first published online: 2 November 2009

  • 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).

Dr Marie Schaer, Service Médico-Pédagogique, 1 rue David Dufour, Case Postale 50, 1211 Geneva 8, Switzerland. E-mail: marie.schaer@unige.ch

Abstract

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.

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