Williams syndrome: Cognition, personality, and adaptive behavior

Abstract

Williams syndrome is caused by a microdeletion of at least 16 genes on chromosome 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 with Williams syndrome typically show a clear strength in auditory rote memory, a strength in language, and an extreme weakness in visuospatial construction. The personality of individuals with Williams syndrome involves high sociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations. The adaptive behavior profile for Williams syndrome involves clear strength in socialization skills (especially interpersonal skills related to initiating social interaction), strength in communication, and clear weakness in daily living skills and motor skills, relative to overall level of adaptive behavior functioning. Literature relevant to each of the components of the Williams syndrome behavioral phenotype is reviewed, including operationalizations of the Williams syndrome cognitive profile and the Williams syndrome personality profile. The sensitivity and specificity of these profiles for Williams syndrome, relative to individuals with other syndromes or mental retardation or borderline normal intelligence of unknown etiology, is considered. The adaptive behavior profile is discussed in relation to the cognitive and personality profiles. The importance of operationalizations of crucial components of the behavioral phenotype for the study of genotype/phenotype correlations in Williams syndrome is stressed. MRDD Research Reviews 2000;6:148‐158. © 2000 Wiley‐Liss, Inc.

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

“…This neuropsychological profile with relatively intact language and, concerning adaptive behavior, strength in communication is in line with that observed in typically deleted WBS individuals. [15][16][17] Careful analysis of facial features of patients with atypical deletion and varying degrees of craniofacial abnormalities and animal model studies suggest that genes at both proximal and distal ends of the deletion are involved in WBS craniofacial features. 3,[18][19][20][21] In particular, two genes have been postulated to be mainly involved in the craniofacial features of WBS, GTF2IRD1, and BAZ1B.…”

Profiles and Development of Adaptive Behavior in Adolescents and Adults with Williams Syndrome

“…Research has demonstrated that WS is associated with deficits in adaptive behavior [14]- [16]. Researchers found that children with WS obtained significantly lower scores in adaptive behavior compared to their IQ-and chronological age (CA) matched counterparts with nonspecific intellectual disability [17].…”

Heterogeneity of social approach behaviour in Williams syndrome: The role of response inhibition

“…Individuals with WS appear RUNNING HEAD: Social Approach in Williams syndrome 4 hypersociable from an early age (Doyle, Bellugi, Korenberg & Graham, 2004), demonstrating an eagerness to make eye contact with and to approach strangers (Mervis & Klein-Tasman, 2000). An interest in looking at faces remains in childhood and into young adulthood (Riby & Hancock, 2008).…”