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An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS)

Henry, J. C., van Amelsvoort, T, Morris, R. G, Owen, Michael John, Murphy, D. G. M. and Murphy, K. C. 2002. An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia 40 (5) , pp. 471-478. 10.1016/S0028-3932(01)00136-1

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Abstract

Velo-cardio-facial syndrome (VCFS) is associated with deletions on the long arm of chromosome 22, mild intellectual disability, poor social interaction and a high prevalence of psychosis. However, to date there have been no studies investigating the neuropsychological functioning of adults with VCFS. We compared 19 adults with VCFS with 19 age, gender and IQ matched controls using a comprehensive neuropsychological battery. Compared to controls, adults with VCFS had significant impairments in visuoperceptual ability (Visual Object and Space Perception Battery), problem solving and planning (Tower of London) and abstract and social thinking (Comprehension WAIS-R). It is likely that haploinsufficiency (reduced gene dosage) of a neurodevelopmental gene or genes mapping to chromosome 22q11 underlies the cognitive deficits observed in individuals with VCFS.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0028-3932
Last Modified: 04 Jun 2017 08:40
URI: http://orca.cf.ac.uk/id/eprint/82538

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