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

• Published in: Journal of child psychology and psychiatry Vol. 49; no. 6; pp. 576 - 608
• Main Authors: Martens, Marilee A., Wilson, Sarah J., Reutens, David C.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.06.2008; Blackwell
• Subjects: Adult and adolescent clinical studies; Behavior; Behavior Patterns; Biological and medical sciences; Brain - pathology; Child; Child Behavior Disorders - diagnosis; Child Behavior Disorders - genetics; Child Behavior Disorders - pathology; Child clinical studies; Child psychology; cognition; Cognition & reasoning; Cognition Disorders - diagnosis; Cognition Disorders - genetics; Cognition Disorders - pathology; Control Groups; Developmental disabilities; Developmental disorders; Emotions; Facial Expression; Genetic disorders; Humans; Intellectual deficiency; Intelligence; language; Language Development Disorders - diagnosis; Language Development Disorders - genetics; Language Development Disorders - pathology; Language Skills; Medical sciences; music; Neuropsychological Tests; Neurosciences; Pattern Recognition, Visual; Personality Assessment; Phenotype; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; review; Social Behavior; Williams syndrome; Williams Syndrome - diagnosis; Williams Syndrome - genetics; Williams Syndrome - pathology; Human; Central nervous system; Cognition; Review; Encephalon; Williams syndrome; Social development; Phenotype; Social behavior; Language; Social interaction; Music; Adolescent; Language development; Adult; Critical study; Cognitive development; Child
• ISSN: 0021-9630; 1469-7610
• DOI: 10.1111/j.1469-7610.2008.01887.x

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.