Association of behavioural and social–communicative profiles in children with 16p11.2 copy number variants: a multi-site study

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL Journal of Intellectual Disability Research Pub Date : 2024-04-24 DOI:10.1111/jir.13141

J. Verbesselt, L. K. Walsh, M. W. Mitchel, C. M. Taylor, B. M. Finucane, J. Breckpot, I. Zink, A. Swillen

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Abstract

Background

Despite the established knowledge that recurrent copy number variants (CNVs) at the 16p11.2 locus BP4–BP5 confer risk for behavioural and language difficulties, limited research has been conducted on the association between behavioural and social–communicative profiles. The current study aims to further delineate the prevalence, nature and severity of, and the association between, behavioural and social–communicative features of school-aged children with 16p11.2 deletion syndrome (16p11.2DS) and 16p11.2 duplication (16p11.2Dup).

Methods

A total of 68 individuals (n = 47 16p11.2DS and n = 21 16p11.2Dup) aged 6–17 years participated. Standardised intelligence tests were administered, and behavioural and social–communicative skills were assessed by standardised questionnaires. Scores of both groups were compared with population norms and across CNVs. The influence of confounding factors was investigated, and correlation analyses were performed.

Results

Compared with the normative sample, children with 16p11.2DS showed high rates of social responsiveness (67%) and communicative problems (69%), while approximately half (52%) of the patients displayed behavioural problems. Children with 16p11.2Dup demonstrated even higher rates of social–communicative problems (80–90%) with statistically significantly more externalising and overall behavioural challenges (89%). In both CNV groups, there was a strong positive correlation between behavioural and social–communicative skills.

Conclusions

School-aged children with 16p11.2 CNVs show high rates of behavioural, social responsiveness and communicative problems compared with the normative sample. These findings point to the high prevalence of autistic traits and diagnoses in these CNV populations. Moreover, there is a high comorbidity between behavioural and social–communicative problems. Patients with difficulties in both domains are vulnerable and need closer clinical follow-up and care.

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16p11.2拷贝数变异儿童的行为和社会交流特征：一项多站点研究

背景尽管已经知道 16p11.2 位点 BP4-BP5 的复发性拷贝数变异（CNVs）会带来行为和语言障碍的风险，但有关行为和社会交流特征之间关联的研究还很有限。本研究旨在进一步明确16p11.2缺失综合征（16p11.2DS）和16p11.2重复（16p11.2Dup）学龄儿童的行为和社会交往特征的发生率、性质、严重程度及两者之间的关联。方法共有68名6-17岁的儿童（n = 47 16p11.2DS和n = 21 16p11.2Dup）参与研究。他们接受了标准化智力测验，并通过标准化问卷评估了行为和社会交往能力。将两组的得分与人群常模和不同 CNV 进行了比较。结果与常模样本相比，16p11.2DS 患儿的社会反应能力（67%）和沟通问题（69%）较高，而大约一半（52%）的患者表现出行为问题。16p11.2Dup患儿的社交-沟通问题发生率更高（80%-90%），外化和整体行为问题的发生率（89%）也明显更高。结论与正常样本相比，16p11.2 CNVs 学龄儿童的行为、社会反应能力和沟通问题发生率较高。这些发现表明，在这些 CNV 群体中，自闭症特征和诊断的发病率很高。此外，行为问题和社交-沟通问题之间存在高度共病性。在这两个领域都有困难的患者很脆弱，需要更密切的临床跟踪和护理。

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来源期刊

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

期刊介绍： The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.