Mervis C B, Klein-Tasman B P
Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky 40292, USA.
Ment Retard Dev Disabil Res Rev. 2000;6(2):148-58. doi: 10.1002/1098-2779(2000)6:2<148::AID-MRDD10>3.0.CO;2-T.
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.
威廉姆斯综合征由7号染色体长臂11.23区域至少16个基因的微缺失引起。该综合征会导致轻度至中度智力发育迟缓或学习障碍。威廉姆斯综合征的行为表型具有独特的认知特征和异常的人格特征。相对于整体智力水平，威廉姆斯综合征患者通常在听觉机械记忆方面表现出明显优势，在语言方面有优势，而在视觉空间构建方面极度薄弱。威廉姆斯综合征患者的人格包括高度社交性、过度友善和同理心，同时存在与社交情境相关的潜在焦虑情绪。相对于整体适应行为功能水平，威廉姆斯综合征的适应行为特征包括社交技能（尤其是与发起社交互动相关的人际技能）方面的明显优势、沟通能力方面的优势，以及日常生活技能和运动技能方面的明显劣势。本文回顾了与威廉姆斯综合征行为表型各组成部分相关的文献，包括威廉姆斯综合征认知特征和人格特征的操作性定义。考虑了这些特征相对于其他综合征患者、智力发育迟缓患者或病因不明的临界正常智力个体而言，对威廉姆斯综合征的敏感性和特异性。还结合认知和人格特征对适应行为特征进行了讨论。强调了行为表型关键组成部分的操作性定义对于威廉姆斯综合征基因型/表型相关性研究的重要性。《MRDD研究评论》2000年；6：第148 - 158页。
