title: An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS).
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.
authors.affiliation: Department of Psychology, Institute of Psychiatry, DeCrespigny Park, Denmark Hill, London SE58AF, UK. spjtjch@iop.kcl.ac.uk
authors.forename: J C
authors.initials: JC
authors.lastname: Henry
authors.forename: T
authors.initials: T
authors.lastname: van Amelsvoort
authors.forename: R G
authors.initials: RG
authors.lastname: Morris
authors.forename: M J
authors.initials: MJ
authors.lastname: Owen
authors.forename: D G M
authors.initials: DG
authors.lastname: Murphy
authors.forename: K C
authors.initials: KC
authors.lastname: Murphy
mesh_terms: D000328:Adult; D001921:Brain / Q000196:embryology* / Q000254:growth & development; D016022:Case-Control Studies; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003071:Cognition; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics / Q000523:psychology*; D019066:Facies; D005260:Female; D005556:Form Perception; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D011340:Problem Solving; D011618:Psychotic Disorders / Q000235:genetics*; D013028:Space Perception; D013577:Syndrome