{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:49:28Z","timestamp":1792694968202,"version":"4.5.0"},"reference-count":85,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,11,2]],"date-time":"2011-11-02T00:00:00Z","timestamp":1320192000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Background\u2003<\/jats:bold> Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its \u223c28 deleted genes are crucial for cortical neuronal migration and maturation. Phenotypically, WS is one of the most puzzling childhood neurodevelopmental disorders affecting most intellectual deficiencies (i.e. low\u2010moderate intelligence quotient, visuospatial deficits) yet relatively preserving what is uniquely human (i.e. language and social\u2010emotional cognition). Therefore, WS provides a privileged setting for investigating the relationship between genes, brain and the consequent complex human behaviour.<\/jats:p><jats:p><jats:bold>Methods\u2003<\/jats:bold> We used <jats:italic>in vivo<\/jats:italic> anatomical magnetic resonance imaging analysing cortical surface\u2010based morphometry, (i.e. surface area <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/JIR_1490_mu1.gif\" xlink:title=\"inline image\"\/>, cortical volume <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/JIR_1490_mu2.gif\" xlink:title=\"inline image\"\/>, cortical thickness <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/JIR_1490_mu3.gif\" xlink:title=\"inline image\"\/>, gyrification index <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/JIR_1490_mu4.gif\" xlink:title=\"inline image\"\/>) and cortical complexity <jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/JIR_1490_mu5.gif\" xlink:title=\"inline image\"\/>, which is of particular relevance to the WS genotype\u2013phenotype relationship in 22 children (2.27\u201314.6 years) to compare whole hemisphere and lobar surface\u2010based morphometry between WS (<jats:italic>n<\/jats:italic>\u2003=\u200310) and gender\/age matched normal controls healthy controls (<jats:italic>n<\/jats:italic>\u2003=\u200312).<\/jats:p><jats:p><jats:bold>Results\u2003<\/jats:bold> Compared to healthy controls, WS children had a (1) relatively preserved Cth; (2) significantly reduced SA and CV; (3) significantly increased GI mostly in the parietal lobe; and (4) decreased CC specifically in the frontal and parietal lobes.<\/jats:p><jats:p><jats:bold>Conclusion\u2003<\/jats:bold> Our findings are then discussed with reference to the Rakic radial\u2010unit hypothesis of cortical development, arguing that WS gene deletions may spare Cth yet affecting the number of founder cells\/columns\/radial units, hence decreasing the SA and CV. In essence, cortical brain structure in WS may be shaped by gene\u2010dosage abnormalities.<\/jats:p>","DOI":"10.1111\/j.1365-2788.2011.01490.x","type":"journal-article","created":{"date-parts":[[2011,11,2]],"date-time":"2011-11-02T07:43:04Z","timestamp":1320219784000},"page":"879-894","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Williams syndrome: a relationship between genetics, brain morphology and behaviour"],"prefix":"10.1111","volume":"56","author":[{"given":"C.","family":"Fahim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Yoon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. H.","family":"Nashaat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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