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.

中文翻译：

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16p11.2 缺失和重复综合征的语言特征。

表达性语言障碍是 16p11.2 拷贝数变异 (CNV) 最常见的相关临床特征之一。然而，我们对 16p11.2 CNVs 个体的语言特征的理解仍然有限。本研究建立在 Simons Variation in Individuals Project（VIP，现称为 Simons Searchlight）先前工作的基础上，使用综合评估来表征 16p11.2 删除和重复携带者的语言能力。参与者包括 110 名临床确定的 16p11.2 BP4-BP5 缺失的儿童和家庭成员（即兄弟姐妹和表亲）和 58 名 16p11.2 BP4-BP5 重复的 2-23 岁之间的儿童和家庭成员，其中大多数是口头的。进行回归分析以量化存在 16p11.2 缺失和重复时语言能力的变化，无论有无自闭症谱系障碍 (ASD) 和认知缺陷。语用技能的困难在删除和重复组中的口头个体中同样普遍。NVIQ 对句法和语义/语用的语言分数有适度的可量化影响（下降小于 1SD ) 为两组。总体而言，即使在控制了 ASD 诊断和认知缺陷后，语言障碍仍然存在。即使没有 ASD 和认知缺陷，语言障碍也是 16p11.2 CNV 个体的核心临床特征之一。结果强调需要对语言障碍进行更全面和严格的评估，以最大限度地提高 16p11.2 CNV 携带者的结果。