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Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype

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This review critically examines the research findings which characterize the cognitive, behavioral, and neuroanatomical features of Williams syndrome (WS). This article analyzes 178 published studies in the WS literature covering the following areas: 1) General intelligence, 2) Language skills, 3) Visuospatial and face processing skills, 4) Behavior patterns and hypersociability, 5) Musical abilities, and 6) Brain structure and function. We identify methodological issues relating to small sample size, use and type of control groups, and multiple measures of task performance. Previously described ‘peaks’ within the cognitive profile are closely examined to assess their veracity. This review highlights the need for methodologically sound studies that utilize multiple comparison groups, developmental trajectories, and longitudinal analyses to examine the WS phenotype, as well as those that link brain structure and function to the cognitive and behavioral phenotype of WS individuals.
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Keywords: Williams syndrome; cognition; language; music; phenotype; review; social behavior

Document Type: Research Article

Affiliations: 1: School of Behavioural Science, The University of Melbourne, Australia 2: Department of Medicine, Monash University, Australia

Publication date: June 1, 2008

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