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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

机译:儿童智力是否与发育障碍患者的父母和兄弟姐妹智力相关?青年22q11.2缺失(心-心-面部)综合征的调查

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摘要

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.
机译:患有拷贝数变异(CNV)遗传障碍的22q11.2缺失综合征(22q11DS)儿童表现出很大的智商得分变异,特别容易出现认知障碍,其中有45%的儿童患有智力障碍。这项研究探讨了22q11 DS的个体,父母及其兄弟姐妹之间的智商关系。参与者包括22q11DS的个体,未受影响的兄弟姐妹和社区控制者,他们参加了22q11DS的纵向研究。发现先证者与相对(父母,兄弟姐妹)智商得分之间存在显着关联。结果表明,一级亲属的认知功能可能是一般遗传背景和/或环境影响的有用标志,并且可以解释22q11DS中的一些较大的表型变异性。这些发现强调了尽可能在22q11DS研究中包括兄弟姐妹和父母的重要性。 (C)2014 Elsevier Ltd.保留所有权利。

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