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

Research output: Contribution to journalArticle

J C Henry, T van Amelsvoort, R G Morris, M J Owen, D G M Murphy, K C Murphy

Original languageEnglish
Pages (from-to)471 - 478
Number of pages8
Issue number5
Publication statusPublished - 2002

King's Authors


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. (C) 2001 Elsevier Science Ltd. All rights reserved.

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