Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Adriana SampaioÓscar F Gonçalves

Abstract

Williams Syndrome (WS) is a genetic neurodevelopmental disorder caused by a submicroscopic deletion on chromosome 7 q11.23. This is a systemic disorder in which cardiac problems and mental retardation are the key phenotypic symptoms. Although displaying a general cognitive impairment, they are most often described as exhibiting a peak and valley profile, with relative sparing of language and face processing abilities and severe impairment of visual-spatial cognition. In this study, we conducted a detailed cognitive assessment using Wechsler Intelligence Scales on a WS and a normal development control group. To explore the hypothesis of a dissociative cognitive architecture in WS, performance on subtests, factorial indexes and composite measures of Verbal, Performance and Full Scale Intelligence Quotient were analysed. Individuals with WS were found to score in Full Scale Intelligence Quotient (FSIQ) within mild to moderate mental retardation interval, and had significantly lower scores in all measures when they were compared with the normal development group. However, a specific intragroup cognitive profile was found for Williams Syndrome (confirming Mervis' definition of the WS cognitive profile) along with a specific developm...Continue Reading

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Citations

May 15, 2012·European Journal of Medical Genetics·Ana OsórioMontse Fernández-Prieto
Apr 17, 2012·Research in Developmental Disabilities·Ana OsórioMontse Fernández-Prieto
Jan 11, 2012·Research in Developmental Disabilities·Natalia F RossiAdriana Sampaio
Sep 3, 2011·Brain and Cognition·Miriam D LenseElisabeth M Dykens
Mar 16, 2016·Physiology & Behavior·Stella Donadon SantoroLuciana Pinato
Sep 10, 2014·Research in Developmental Disabilities·Elena Garayzábal HeinzeAdriana Sampaio
Feb 18, 2014·Research in Developmental Disabilities·Ana OsórioAdriana Sampaio
Dec 7, 2013·Asian Journal of Psychiatry·Khaled SaadReda Badry
Nov 5, 2013·Jornal de pediatria·Luiz F L PegoraroPaulo Dalgalarrondo
Jul 15, 2016·Developmental Science·Adriana SampaioJosé Miguel Soares
Jun 15, 2017·Journal of Intellectual Disability Research : JIDR·N F Rossi, C M Giacheti

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