Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding of the language profiles of individuals with 16p11.2 CNVs is still limited. This study builds upon previous work in the Simons Variation in Individuals Project (VIP, now known as Simons Searchlight), to characterize language abilities in 16p11.2 deletion and duplication carriers using comprehensive assessments. Participants included 110 clinically ascertained children and family members (i.e., siblings and cousins) with 16p11.2 BP4-BP5 deletion and 58 with 16p11.2 BP4-BP5 duplication between the ages of 2-23 years, most of whom were verbal. Regression analyses were performed to quantify variation in language abilities in the presence of the 16p11.2 deletion and duplication, both with and without autism spectrum disorder (ASD) and cognitive deficit. Difficulties in pragmatic skills were equally prevalent in verbal individuals in both deletion and duplication groups. NVIQ had moderate quantifiable effects on language scores in syntax and semantics/pragmatics (a decrease of less than 1 SD) for both groups. Overall, language impairments persisted even after controlling for ASD diagnosis and cognitive deficit. Language impairment is one of the core clinical features of individuals with 16p11.2 CNVs even in the absence of ASD and cognitive deficit. Results highlight the need for more comprehensive and rigorous assessment of language impairments to maximize outcomes in carriers of 16p11.2 CNVs.

译文

:表达性语言障碍是16p11.2拷贝数变异(CNV)最常见的临床特征之一。但是,我们对具有16p11.2 CNV的人的语言档案的了解仍然有限。这项研究基于以前的个人西蒙斯变异项目(VIP,现称为西蒙斯Searchlight)中的工作,旨在通过全面评估来表征16p11.2删除和复制载体中的语言能力。参加者包括2-23岁之间有16p11.2 BP4-BP5缺失的110名经临床确定的儿童和家庭成员(即兄弟姐妹和堂兄弟姐妹)和16p11.2 BP4-BP5重复的58名儿童,其中大多数是口头的。进行回归分析以量化存在和不存在自闭症谱系障碍(ASD)和认知缺陷的16p11.2缺失和重复存在下语言能力的变化。在删除和重复组中,口头表达个人的实用技巧上的困难同样普遍。 NVIQ对两组语言和语法/语用/语用学得分都有中等程度的量化影响(减少幅度小于1 SD)。总体而言,即使在控制了ASD诊断和认知缺陷后,语言障碍仍持续存在。语言障碍是具有16p11.2 CNV的个体的核心临床特征之一,即使在没有ASD和认知缺陷的情况下也是如此。结果强调需要对语言障碍进行更全面,更严格的评估,以最大程度地提高16p11.2 CNV携带者的治疗效果。

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