The Japanese journal of neuropsychology

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ArticleTitle	Neuropsychology of Williams syndrome
Language	J
AuthorList	Chiyoko Nagai
Affiliation	Department of Neurology, Neurological Institute, Tokyo Women's Medical University
Publication	Japanese Journal of Neuropsychology: 20 (2), 136-145, 2004
Received
Accepted
Abstract	Williams syndrome (WS) is a contiguous gene syndrome caused by a hemizygous deletion in chromosome 7. Patients with WS exhibit specific cognitive profile such as relatively preserved verbal function and severely impaired visuospatial function, which have interested cognitive neuroscientists recently. Although some cognitive neuroscientists have assumed this cognitive profile as an indication of the innateness of cognitive modules such as verbal function and visuospatial function, recent studies deny this hypothesis: rather, they give alternative hypothesis: patients with WS should process information by a different way from normal participants over the whole cognitive function. Approximately 20 genes within the deleted region in the chromosome, some of which are expressed in a brain, should be related to the specific cognitive profile in WS patients. The relation between genetic function and cognitive function profile in WS is to be clarified in the future.
Keywords	williams syndrome, genetic disease, chromosome 7, visuo-spatial disability