Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium.
Centre for Developmental Disorders, University Hospital Brussels, Laarbeeklaan 101, 1090 Jette, Belgium.
Genes (Basel). 2022 Oct 6;13(10):1801. doi: 10.3390/genes13101801.
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 ( = 19) compared to their non-carrier siblings ( = 11) and age-matched children with 22q11.2DS ( = 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.
22q11.2 缺失（22q11.2DS）和 22q11.2 重复（22q11.2Dup）会增加神经发育困难的风险，但 22q11.2Dup 患者的言语-语言和社交技能特征仍有限。因此，本研究旨在描绘 22q11.2Dup 患儿（=19）的社交沟通技能，与他们的非携带者兄弟姐妹（=11）和年龄匹配的 22q11.2DS 患儿（=19）进行比较。父母完成了两个标准化问卷：儿童沟通检查表（CCC-2），筛查言语、语言和社交技能，以及社交反应量表（SRS-2），评估社交行为缺陷。父母报告说，22q11.2Dup 和 22q11.2DS 患儿的社交沟通缺陷均多于普通人群；22q11.2Dup 患儿似乎处于其兄弟姐妹和 22q11.2DS 患儿之间的中间位置。与 22q11.2DS 患儿相比，他们表现出的问题较少且不那么严重，且社交沟通特征更加多样，限制兴趣和重复行为较少。22q11Dup 患儿的兄弟姐妹报告了更轻微的社交沟通困难和同样多样的特征，这可能表明-除了重复-其他因素如更广泛的遗传背景在社交沟通结果中也发挥了作用。
