{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:19:22Z","timestamp":1784902762473,"version":"3.55.0"},"reference-count":56,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health (NIMH)","doi-asserted-by":"publisher","award":["1U01MH119759-01"],"award-info":[{"award-number":["1U01MH119759-01"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FWO-Flanders","award":["1U01MH119759-01"],"award-info":[{"award-number":["1U01MH119759-01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) confer risk for neurodevelopmental difficulties, but the characterization of speech-language and social skills in 22q11.2Dup is still limited. Therefore, this study aims to delineate social-communicative skills in school-aged children with 22q11.2Dup (n = 19) compared to their non-carrier siblings (n = 11) and age-matched children with 22q11.2DS (n = 19). Parents completed two standardized questionnaires: the Children\u2019s Communication Checklist (CCC-2), screening speech, language, and social skills, and the Social Responsiveness Scales (SRS-2), assessing deficits in social behavior. Parents report that both children with 22q11.2Dup and 22q11.2DS show more social-communicative deficits than the general population; children with 22q11.2Dup seem to take an intermediate position between their siblings and children with 22q11.2DS. Compared to 22q11.2DS, they demonstrate less frequent and less severe problems, and more heterogeneous social-communicative profiles, with fewer restricted interests and repetitive behaviors. In siblings of 22q11Dup, milder social-communicative difficulties and equally heterogeneous profiles are reported, which might indicate that-in addition to the duplication-other factors such as the broader genetic context play a role in social-communicative outcomes.<\/jats:p>","DOI":"10.3390\/genes13101801","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T20:43:21Z","timestamp":1665261801000},"page":"1801","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3024-8520","authenticated-orcid":false,"given":"Jente","family":"Verbesselt","sequence":"first","affiliation":[{"name":"Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Van Den Heuvel","sequence":"additional","affiliation":[{"name":"Centre for Developmental Disorders, University Hospital Brussels, Laarbeeklaan 101, 1090 Jette, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium"},{"name":"Department of Human Genetics, Catholic University Leuven, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7954-1720","authenticated-orcid":false,"given":"Inge","family":"Zink","sequence":"additional","affiliation":[{"name":"Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Department of Neurosciences, KU Leuven, Herestraat 49, 3000 Leuven, Belgium"},{"name":"MUCLA, Department of Oto-Rhino-Laryngology, Head & Neck Surgery, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4258-4537","authenticated-orcid":false,"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium"},{"name":"Department of Human Genetics, Catholic University Leuven, Herestraat 49, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.pneurobio.2012.07.005","article-title":"Copy Number Variations in Neurodevelopmental Disorders","volume":"99","author":"Grayton","year":"2012","journal-title":"Prog. 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