{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T09:24:45Z","timestamp":1762161885066,"version":"3.40.5"},"reference-count":60,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["1U01MH119759\u201001","U01MH119705"],"award-info":[{"award-number":["1U01MH119759\u201001","U01MH119705"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Despite the established knowledge that recurrent copy number variants (CNVs) at the 16p11.2 locus BP4\u2013BP5 confer risk for behavioural and language difficulties, limited research has been conducted on the association between behavioural and social\u2013communicative profiles. The current study aims to further delineate the prevalence, nature and severity of, and the association between, behavioural and social\u2013communicative features of school\u2010aged children with 16p11.2 deletion syndrome (16p11.2DS) and 16p11.2 duplication (16p11.2Dup).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 68 individuals (<jats:italic>n<\/jats:italic>\u00a0=\u00a047 16p11.2DS and <jats:italic>n<\/jats:italic>\u00a0=\u00a021 16p11.2Dup) aged 6\u201317\u00a0years participated. Standardised intelligence tests were administered, and behavioural and social\u2013communicative 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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\u2013communicative problems (80\u201390%) with statistically significantly more externalising and overall behavioural challenges (89%). In both CNV groups, there was a strong positive correlation between behavioural and social\u2013communicative skills.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>School\u2010aged 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\u2013communicative problems. Patients with difficulties in both domains are vulnerable and need closer clinical follow\u2010up and care.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.13141","type":"journal-article","created":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T22:54:57Z","timestamp":1713999297000},"page":"969-984","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Association of behavioural and social\u2013communicative profiles in children with 16p11.2 copy number variants: a multi\u2010site study"],"prefix":"10.1111","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3024-8520","authenticated-orcid":false,"given":"J.","family":"Verbesselt","sequence":"first","affiliation":[{"name":"Department of Human Genetics KU Leuven  Leuven Belgium"},{"name":"Research Group Experimental Oto\u2010Rhino\u2010Laryngology (ExpORL), Department of Neurosciences, Leuven Brain Institute KU Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. 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