PDF(Pubmed)
Abstract：
22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) confer risk for neurodevelopmental difficulties, but the characterization of speech-language and social skills in 22q11.2Dup is still limited. Therefore, this study aims to delineate social-communicative skills in school-aged children with 22q11.2Dup (n = 19) compared to their non-carrier siblings (n = 11) and age-matched children with 22q11.2DS (n = 19). Parents completed two standardized questionnaires: the Children\'s Communication Checklist (CCC-2), screening speech, language, and social skills, and the Social Responsiveness Scales (SRS-2), assessing deficits in social behavior. Parents report that both children with 22q11.2Dup and 22q11.2DS show more social-communicative deficits than the general population; children with 22q11.2Dup seem to take an intermediate position between their siblings and children with 22q11.2DS. Compared to 22q11.2DS, they demonstrate less frequent and less severe problems, and more heterogeneous social-communicative profiles, with fewer restricted interests and repetitive behaviors. In siblings of 22q11Dup, milder social-communicative difficulties and equally heterogeneous profiles are reported, which might indicate that-in addition to the duplication-other factors such as the broader genetic context play a role in social-communicative outcomes.
摘要：
22q11.2缺失（22q11.2DS）和22q11.2重复（22q11.2Dup）赋予神经发育困难的风险，但是22q11.2Dup中语音语言和社交技能的表征仍然有限。因此,这项研究旨在描述22q11.2Dup(n=19)学龄儿童与其非携带者兄弟姐妹(n=11)和22q11.2DS(n=19)年龄匹配儿童的社交技能。父母完成了两份标准化问卷：儿童沟通清单(CCC-2)，筛选语音,语言,和社交技能，和社会反应能力量表(SRS-2)，评估社会行为的缺陷。父母报告说，患有22q11.2Dup和22q11.2DS的孩子都比普通人群表现出更多的社交障碍；患有22q11.2Dup的孩子似乎在他们的兄弟姐妹和患有22q11.2DS的孩子之间处于中间位置。与22q11.2DS相比，他们表现出不那么频繁和不那么严重的问题，和更多不同的社会交流概况，有限的利益和重复的行为。在22q11Dup的兄弟姐妹中，据报道，更温和的社会交流困难和同样不同的概况，这可能表明，除了重复之外，其他因素，如更广泛的遗传背景在社会交流结果中也起着作用。
