Kim So Hyun, Green-Snyder LeeAnne, Lord Catherine, Bishop Somer, Steinman Kyle J, Bernier Raphael, Hanson Ellen, Goin-Kochel Robin P, Chung Wendy K
Department of Psychiatry, Weill Cornell Medicine, White Plains, New York, USA.
Simons Foundation, New York, New York, USA.
Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):380-391. doi: 10.1002/ajmg.b.32809. Epub 2020 Jul 11.
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.
表达性语言障碍是16p11.2拷贝数变异（CNV）最常伴发的临床特征之一。然而，我们对16p11.2 CNV个体的语言概况的了解仍然有限。本研究基于西蒙斯个体变异项目（VIP，现称为西蒙斯探照灯计划）之前的工作，通过全面评估来描述16p11.2缺失和重复携带者的语言能力。参与者包括110名经临床确诊的2至23岁的儿童及其家庭成员（即兄弟姐妹和表亲），他们携带16p11.2 BP4 - BP5缺失，另有58名携带16p11.2 BP4 - BP5重复，其中大多数人会说话。进行回归分析以量化在存在16p11.2缺失和重复的情况下，无论有无自闭症谱系障碍（ASD）和认知缺陷时语言能力的差异。在缺失组和重复组中，有语言能力的个体在语用技能方面的困难同样普遍。非言语智商（NVIQ）对两组的句法和语义/语用方面的语言分数有中度可量化影响（下降小于1个标准差）。总体而言，即使在控制了ASD诊断和认知缺陷之后，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。研究结果强调需要对语言障碍进行更全面、严格的评估，以优化16p11.2 CNV携带者的治疗效果。
