Williams Syndrome: A Relationship between Genetics, Brain Morphology and Behaviour

Autor/inn/en	Fahim, C.; Yoon, U.; Nashaat, N. H.; Khalil, A. K.; El-Belbesy, M.; Mancini-Marie, A.; Evans, A. C.; Meguid, N.
Titel	Williams Syndrome: A Relationship between Genetics, Brain Morphology and Behaviour
Quelle	In: Journal of Intellectual Disability Research, 56 (2012) 9, S.879-894 (16 Seiten)Infoseite zur Zeitschrift PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0964-2633
DOI	10.1111/j.1365-2788.2011.01490.x
Schlagwörter	Attention Deficit Disorders; Intelligence Quotient; Genetics; Scientific Research; Brain Hemisphere Functions; Behavior Patterns; Correlation; Pathology; Physiology; Genetic Disorders; Diagnostic Tests; Control Groups + Suchen Sie Ihr Suchwort? Attention deficit hyperactivity disorder; ADHS; Aufmerksamkeits-Defizit-Hyperaktivitäts-Störung; Aufmerksamkeitsstörung; Intelligenzquotient; Humangenetik; Korrelation; Pathologie; Physiologie; Diagnostic test; Diagnostischer Test
Abstract	Background: Genetically Williams syndrome (WS) promises to provide essential insight into the pathophysiology of cortical development because its ~28 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-moderate intelligence quotient, visuospatial deficits) yet relatively preserving what is uniquely human (i.e. language and social-emotional cognition). Therefore, WS provides a privileged setting for investigating the relationship between genes, brain and the consequent complex human behaviour. Methods: We used "in vivo" anatomical magnetic resonance imaging analysing cortical surface-based morphometry, (i.e. surface area [Upsilon]SA/, cortical volume [Upsilon]CV/, cortical thickness [Upsilon]Cth/, gyrification index [Upsilon]GI/) and cortical complexity [Upsilon]CC/, which is of particular relevance to the WS genotype-phenotype relationship in 22 children (2.27-14.6 years) to compare whole hemisphere and lobar surface-based morphometry between WS (n = 10) and gender/age matched normal controls healthy controls (n = 12). Results: 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. Conclusion: Our findings are then discussed with reference to the Rakic radial-unit 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-dosage abnormalities. (Contains 3 tables and 3 figures.) (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10