Olszewski Amy K, Radoeva Petya D, Fremont Wanda, Kates Wendy R, Antshel Kevin M
Department of Psychology, Syracuse University, 430 Huntington Hall, Syracuse, NY 13244, United States; Department of Psychiatry and Behavioral Sciences, SUNY - Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, United States.
Department of Psychiatry and Behavioral Sciences, SUNY - Upstate Medical University, 750 E. Adams St., Syracuse, NY 13210, United States.
Res Dev Disabil. 2014 Dec;35(12):3582-90. doi: 10.1016/j.ridd.2014.08.034. Epub 2014 Sep 20.
Children with 22q11.2 deletion syndrome (22q11DS), a copy-number variation (CNV) genetic disorder, demonstrate a great deal of variability in IQ scores and are at particular risk for cognitive difficulties, with up to 45% experiencing intellectual disability. This study explored the IQ relationship between individuals with 22q11DS, their parents and their siblings. Participants included individuals with 22q11DS, unaffected siblings and community controls, who participated in a longitudinal study of 22q11DS. Significant associations between proband and relative (parent, sibling) IQ scores were found. Results suggest that the cognitive functioning of first-degree relatives could be a useful marker of general genetic background and/or environmental effects, and can explain some of the large phenotypic variability in 22q11DS. These findings underscore the importance of including siblings and parents in studies of 22q11DS whenever possible.
患有22q11.2缺失综合征（22q11DS）的儿童，一种拷贝数变异（CNV）遗传性疾病，在智商分数上表现出很大的变异性，并且特别容易出现认知困难，高达45%的患者有智力障碍。本研究探讨了患有22q11DS的个体与其父母及兄弟姐妹之间的智商关系。参与者包括患有22q11DS的个体、未受影响的兄弟姐妹以及社区对照，他们参与了一项关于22q11DS的纵向研究。发现先证者与亲属（父母、兄弟姐妹）的智商分数之间存在显著关联。结果表明，一级亲属的认知功能可能是一般遗传背景和/或环境影响的有用指标，并且可以解释22q11DS中一些较大的表型变异性。这些发现强调了在可能的情况下，将兄弟姐妹和父母纳入22q11DS研究的重要性。
