Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings

Date
2009-07-01Author
Jackowski, Andrea Parolin [UNIFESP]
Rando, Kenneth
Araujo, Celia Maria de [UNIFESP]
Del Cole, Carolina Grego [UNIFESP]
Silva, Ivaldo [UNIFESP]
Tavares de Lacerda, Acioly Luiz [UNIFESP]
Type
ResenhaISSN
1090-3798Is part of
European Journal of Paediatric NeurologyDOI
10.1016/j.ejpn.2008.07.002Metadata
Show full item recordAbstract
Williams syndrome (WS) is rare genetic form of mental retardation caused by a micro-deletion on chromosome 7q11.23 that causes cognitive impairment and a variety of physical abnormalities. MRI studies of WS have demonstrated a series of brain abnormalities, including decreased brain size, with a relatively greater decrease in the volume of the cerebral white matter volume as compared to the cerebral gray matter. Moreover there is evidence that the posterior cerebrum is more affected in that persons with WS have a greater ratio of frontal to posterior regional volume. These findings are further supported by automated analyses that have shown reduced gray matter density in the superior parietal lobe areas. Functional MRI studies have demonstrated hypofunction immediately adjacent to, and anterior to, the intraparietal sulcus, a region in which structural brain differences had been identified. These anatomical and functional differences are consistent with the neuropsychological profile of WS - in particular, with evidence of dorsal stream visual processing deficits. To date, however, studies have always been performed in comparison to intellectually average controls. it is not clear, therefore, if findings are specific to the WS population or whether they represent a morphological disturbance characteristic of mental retardation, irrespective of genetic etiology. in this article, we reviewed recent advances underlying the structural and functional neural substrate of WS in Medical Literature Analysis and Retrieval System Online (MEDLINE; 1997-2007). (C) 2008 European Paediatric Neurology Society. Published by Elsevier B.V. All rights reserved.
Citation
European Journal of Paediatric Neurology. Oxford: Elsevier B.V., v. 13, n. 4, p. 305-316, 2009.Keywords
Williams syndromeMagnetic resonance imaging
Brain abnormalities
Mental retardation
Cognitive impairment
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