Doyle Teresa F, Bellugi Ursula, Korenberg Julie R, Graham John
Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, California 92037, USA.
Am J Med Genet A. 2004 Jan 30;124A(3):263-73. doi: 10.1002/ajmg.a.20416.
Williams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses. WS is caused by a hemizygous deletion in chromosome band 7q11.23, including the gene for elastin (ELN). Typically, individuals with WS seem driven to greet and interact with strangers. The goal of the present study was to investigate age-related changes in the expression of hypersociability in WS. Parents of 64 children with WS, 31 children with Down syndrome (DS), and 27 normal controls (NC) provided data concerning specific aspects of their children's social behavior using the Salk Institute Sociability Questionnaire (SISQ). Children ranged in age from 1 year, 1 month to 12 years, 10 months. Consistent with earlier findings, whole group analyses showed the WS group to be significantly higher on all aspects of sociability studied. Comparisons among the groups at different ages revealed that hypersociability is evident even among very young children with WS, and, significantly, children with WS exceed children with DS with respect to Global Sociability and Approach Strangers in every age group. The findings from children who have the typical deletion for WS are contrasted with data obtained from a young child with WS who has a smaller deletion and many physical features of WS, but who does not demonstrate hypersociability, providing intriguing clues to a genetic basis of social behavior in this syndrome. These data suggest the involvement of a genetic predisposition in the expression of hypersociability in WS.
威廉姆斯综合征(WS)是一种罕见的遗传性疾病,伴有特征性心脏缺陷、典型面部外观以及认知优势和劣势的不均衡表现。WS由染色体7q11.23区域的半合子缺失引起,该区域包括弹性蛋白(ELN)基因。通常,患有WS的个体似乎很乐意与陌生人打招呼并互动。本研究的目的是调查WS患者过度社交行为表达中与年龄相关的变化。64名WS患儿、31名唐氏综合征(DS)患儿和27名正常对照(NC)的父母使用索尔克研究所社交问卷(SISQ)提供了有关其子女社交行为特定方面的数据。儿童年龄范围从1岁1个月至12岁10个月。与早期研究结果一致,全组分析显示WS组在所有研究的社交方面得分均显著更高。不同年龄组之间的比较表明,过度社交行为在WS幼儿中也很明显,并且在每个年龄组中,WS患儿在总体社交能力和接近陌生人方面均超过DS患儿。对具有典型WS缺失的儿童的研究结果与一名患有较小缺失且具有许多WS身体特征但未表现出过度社交行为的WS幼儿的数据形成对比,这为该综合征社交行为的遗传基础提供了有趣的线索。这些数据表明遗传易感性参与了WS患者过度社交行为的表达。