Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome
Is child intelligence associated with parent and sibling intelligence in individuals with developmental disorders? An investigation in youth with 22q11.2 deletion (velo-cardio-facial) syndrome
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DOI：
10.1016/j.ridd.2014.08.034
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发表时间：
2014-12-01
影响因子：
3.1
通讯作者：
Antshel, Kevin M.
中科院分区：
文献类型：
--
作者：
Olszewski, Amy K.;Radoeva, Petya D.;Antshel, Kevin M.
患有22q11.2缺失综合征（22 q11 DS）的儿童，一种拷贝数变异（CNV）遗传性疾病，表现出智商分数的巨大变异性，并且特别容易出现认知困难，高达45%的儿童患有智力残疾。本研究探讨了22 q11遗传缺陷综合征患者及其父母和兄弟姐妹之间的智商关系。参与者包括22 q11 DS的个体，未受影响的兄弟姐妹和社区对照，他们参加了22 q11 DS的纵向研究。显着关联先证者和相对（父母，兄弟姐妹）智商scores. Results之间的关系表明，一级亲属的认知功能可能是一个有用的标记一般的遗传背景和/或环境的影响，并可以解释一些大的表型变异在22 q11 DS。这些发现强调了尽可能将兄弟姐妹和父母纳入22 q11 DS研究的重要性。(C)2014爱思唯尔有限公司版权所有。
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 22q11 DS, 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. (C) 2014 Elsevier Ltd. All rights reserved.