Williams syndrome: Cognition, personality, and adaptive behavior

Williams syndrome is caused by a microdeletion of at least 16 genes on chro mosome 7q11.23. The syndrome results in mild to moderate mental retardation or learning disability. The behavioral phenotype for Williams syndrome is characterized by a distinctive cognitive profile and an unusual personality profile. Relative to overall level of intellectual ability, individuals wi th Williams syndrome typically show a clear strength in auditory rote memor y, a strength in language, and an extreme weakness in visuospatial construc tion. The personality of individuals with Williams syndrome involves high s ociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations. The adaptive behavior profile for Williams sy ndrome involves clear strength in socialization skills (especially interper sonal skills related to initiating social interaction), strength in communi cation, and clear weakness in daily living skills and motor skills, relativ e to overall level of adaptive behavior functioning. Literature relevant to each of the components of the Williams syndrome behavioral phenotype is re viewed, including operationalizations of the Williams syndrome cognitive pr ofile and the Williams syndrome personality profile. The sensitivity and sp ecificity of these profiles for Williams syndrome, relative to individuals with other syndromes or mental retardation or borderline normal intelligenc e of unknown etiology, is considered. The adaptive behavior profile is disc ussed in relation to the cognitive and personality profiles. The importance of operationalizations of crucial components of the behavioral phenotype f or the study of genotype/phenotype correlations in Williams syndrome is str essed. (C) 2000 Wiley-Liss, Inc.