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Increased gyrification in Williams syndrome: evidence using 3D MRI methods
Author(s) -
Schmitt J Eric,
Watts Katie,
Eliez Stephan,
Bellugi Ursula,
Galaburda Albert M,
Reiss Allan L
Publication year - 2002
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2002.tb00813.x
Subject(s) - gyrification , williams syndrome , dissociation (chemistry) , psychology , etiology , magnetic resonance imaging , dorsum , neuroscience , cerebral cortex , anatomy , medicine , psychiatry , cognition , chemistry , radiology
Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual‐spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age‐ and sex‐matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal ( p =0.0227), right occipital ( p =0.0249), and left frontal ( p =0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition.