Language Profiles of School-Age Children With 16p11.2 Copy Number Variants in a Clinically Ascertained Cohort.

IF 2.2 2区医学 Q1 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Journal of Speech Language and Hearing Research Pub Date : 2024-11-07 Epub Date: 2024-10-17 DOI:10.1044/2024_JSLHR-24-00257

Jente Verbesselt, Jeroen Breckpot, Inge Zink, Ann Swillen

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Abstract

Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language profiles of school-age children with proximal 16p11.2 CNVs, in relation to the normative sample and unaffected siblings of children with 16p11.2DS.

Method: Standardized language tests were conducted in 33 school-age children with BP4-BP5 16p11.2 CNVs and eight unaffected siblings of children with 16p11.2DS to evaluate language production and comprehension skills across various language domains. A standardized intelligence test was also administered, and parents completed a standardized questionnaire to assess autistic traits. Language profiles were compared across 16p11.2 CNVs and intrafamilial pairs. The influence of nonverbal intelligence and autistic traits on language outcomes was investigated.

Results: No significant differences were found between children with 16p11.2DS and those with 16p11.2Dup, although both groups exhibited significantly poorer language skills compared to the normative sample and unaffected siblings of children with 16p11.2DS. Severe language deficits were identified in 70% of individuals with 16p11.2 CNVs across all language subdomains, with significantly better receptive vocabulary skills than overall receptive language abilities. In children with 16p11.2DS, expressive language deficits were more pronounced than receptive deficits. In contrast, only in children with 16p11.2Dup did nonverbal intelligence influence their language outcomes.

Conclusions: The current study contributes to the deeper understanding of language profiles in 16p11.2 CNVs in a clinically ascertained cohort, indicating generalized deficits across multiple language domains, rather than a syndrome-specific pattern targeting specific subdomains. The findings underscore the importance of early diagnosis, targeted therapy, and monitoring of language skills in children with 16p11.2 CNVs.

Supplemental material: https://doi.org/10.23641/asha.27228702.

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在临床确定的队列中，16p11.2拷贝数变异的学龄儿童的语言特征。

目的：16p11.2近端拷贝数变异（CNVs），即缺失（16p11.2DS）或重复（16p11.2Dup）的个体易患神经发育障碍和疾病，如语言障碍、智力障碍和自闭症谱系障碍。本研究的目的是分析近端 16p11.2 CNVs 学龄儿童的语言特征，并与常模样本和未受影响的 16p11.2DS 儿童兄弟姐妹进行比较：方法：对 33 名患有 BP4-BP5 16p11.2 CNV 的学龄儿童和 8 名未受 16p11.2DS 影响的兄弟姐妹进行了标准化语言测试，以评估各语言领域的语言生成和理解能力。此外，还进行了标准化智力测验，家长填写了标准化问卷以评估自闭症特征。比较了不同 16p11.2 CNV 和家族内配对的语言特征。研究还探讨了非语言智能和自闭症特征对语言结果的影响：结果：16p11.2DS患儿与16p11.2Dup患儿之间没有发现明显差异，但与常模样本和16p11.2DS患儿未受影响的兄弟姐妹相比，两组患儿的语言能力都明显较差。70% 的 16p11.2 CNVs 患儿在所有语言亚领域都存在严重的语言障碍，接受词汇能力明显优于整体接受语言能力。在 16p11.2DS 儿童中，表达性语言障碍比接受性语言障碍更为明显。相比之下，只有 16p11.2Dup 患儿的非语言智能才会影响其语言结果：目前的研究有助于加深对16p11.2 CNVs临床确诊队列中语言特征的理解，研究结果表明，16p11.2 CNVs可导致多个语言领域的普遍缺陷，而不是针对特定子领域的综合征模式。这些发现强调了早期诊断、针对性治疗和监测16p11.2 CNVs患儿语言技能的重要性。补充材料：https://doi.org/10.23641/asha.27228702。

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来源期刊

Journal of Speech Language and Hearing Research AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY-REHABILITATION

CiteScore

4.10

自引率

19.20%

发文量

538

审稿时长

4-8 weeks

期刊介绍： Mission: JSLHR publishes peer-reviewed research and other scholarly articles on the normal and disordered processes in speech, language, hearing, and related areas such as cognition, oral-motor function, and swallowing. The journal is an international outlet for both basic research on communication processes and clinical research pertaining to screening, diagnosis, and management of communication disorders as well as the etiologies and characteristics of these disorders. JSLHR seeks to advance evidence-based practice by disseminating the results of new studies as well as providing a forum for critical reviews and meta-analyses of previously published work. Scope: The broad field of communication sciences and disorders, including speech production and perception; anatomy and physiology of speech and voice; genetics, biomechanics, and other basic sciences pertaining to human communication; mastication and swallowing; speech disorders; voice disorders; development of speech, language, or hearing in children; normal language processes; language disorders; disorders of hearing and balance; psychoacoustics; and anatomy and physiology of hearing.