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.
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.
摘要：
背景：尽管已知16p11.2基因座BP4-BP5处的重复拷贝数变异（CNVs）会导致行为和语言困难，对行为和社会交际特征之间的关联进行了有限的研究。目前的研究旨在进一步描述患病率，的性质和严重性，以及两者之间的联系，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交特征。
方法：共有68名（n=4716p11.2DS和n=2116p11.2Dup），年龄在6-17岁之间。进行了标准化的智力测试，行为和社交技能通过标准化问卷进行评估。将两组的得分与人群规范和跨CNV进行比较。研究了混杂因素的影响，并进行相关分析。
结果：与标准样本相比，16p11.2DS的儿童表现出很高的社会反应率（67％）和沟通问题（69％），而大约一半（52％）的患者表现出行为问题。16p11.2Dup的儿童表现出更高的社会交流问题发生率（80-90％），在统计上明显更多的外化和整体行为挑战（89％）。在两个CNV组中，行为和社交技能之间存在很强的正相关。
结论：患有16p11.2CNV的学龄儿童表现出很高的行为发生率，与规范样本相比，社会反应性和交际问题。这些发现表明，在这些CNV人群中，自闭症特征和诊断的患病率很高。此外，行为问题和社会交往问题之间有很高的共病。在这两个领域都有困难的患者都很脆弱，需要更密切的临床随访和护理。
方法：共有68名（n=4716p11.2DS和n=2116p11.2Dup），年龄在6-17岁之间。进行了标准化的智力测试，行为和社交技能通过标准化问卷进行评估。将两组的得分与人群规范和跨CNV进行比较。研究了混杂因素的影响，并进行相关分析。
结果：与标准样本相比，16p11.2DS的儿童表现出很高的社会反应率（67％）和沟通问题（69％），而大约一半（52％）的患者表现出行为问题。16p11.2Dup的儿童表现出更高的社会交流问题发生率（80-90％），在统计上明显更多的外化和整体行为挑战（89％）。在两个CNV组中，行为和社交技能之间存在很强的正相关。
结论：患有16p11.2CNV的学龄儿童表现出很高的行为发生率，与规范样本相比，社会反应性和交际问题。这些发现表明，在这些CNV人群中，自闭症特征和诊断的患病率很高。此外，行为问题和社会交往问题之间有很高的共病。在这两个领域都有困难的患者都很脆弱，需要更密切的临床随访和护理。
