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

Bach Cuadra, Meritxell
Thiran, Jean-Philippe
Published in Development Medicine and Child neurology. 2009, vol. 51, no. 9, p. 746-753
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.
Keywords AdolescentAdultCase-Control StudiesCerebral Cortex/pathologyChildCohort StudiesDiGeorge Syndrome/complications/pathologyFemaleHeart Defects, Congenital/complications/pathologyHumansImaging, Three-DimensionalMagnetic Resonance ImagingMaleOrgan SizeYoung Adult
PMID: 19416334
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Research groups Unité de psychologie clinique de l'adolescence (UPCA)
Laboratoire d'imagerie et de psychopathologie développementale (693)
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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 https://archive-ouverte.unige.ch/unige:5201

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Deposited on : 2010-02-16

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