{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T22:47:27Z","timestamp":1793227647306,"version":"4.5.0"},"reference-count":45,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004505","name":"Universit\u00e0 di Catania","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004505","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autism spectrum disorder (ASD) is associated with various molecular mechanisms including copy number variants (CNVs). We investigated possible associations between CNVs and ASD clinical correlates. We evaluated pertinent physical characteristics and phenotypic measures such as cognitive level, severity of ASD symptoms and comorbid conditions in ASD patients consecutively recruited over the study period. Children with causative (C\u2010CNVs), non\u2010causative (NC\u2010CNVs) and without CNVs (W\u2010CNVs) were compared. Out of 109 patients, 31 imbalances (16 duplications and 15 deletions) were detected in 25 subjects. Seven (6.4%) had C\u2010CNVs and 18 (16.5%) had NC\u2010CNVs. Paired post hoc comparisons with Bonferroni adjustment showed that dysmorphisms and microcephaly were significantly more frequent in the C\u2010CNVs group. Patients with C\u2010CNVs had more severe autistic core symptoms, while comorbid internalizing behavioral symptoms were more represented among participants with NC\u2010CNVs. No significant differences were observed for distribution of macrocephaly, intellectual disability, epilepsy, isolated electroencephalogram abnormalities and studied neuroimaging characteristics among groups. Recurrent and rare C\u2010CNVs highlighting genes relevant to neurodevelopment had a statistically higher occurrence in children with more severe ASD symptoms and further developmental abnormalities. This study documents the importance of measuring the physical and neurobehavioural correlates of ASD phenotypes to unravel the underlying molecular mechanisms in patient subgroups.<\/jats:p>","DOI":"10.1002\/jdn.10024","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T14:47:10Z","timestamp":1583938030000},"page":"276-286","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting"],"prefix":"10.1002","volume":"80","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-2686","authenticated-orcid":false,"given":"Rita","family":"Barone","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"},{"name":"CNR\u2010Institute for Polymers Composites and Biomaterials IPCB Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariangela","family":"Gulisano","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Amore","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Domini","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Chiara","family":"Milana","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Giglio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Meyer Children's Hospital University of Florence Firenze Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience IRCCS Istituto Giannina Gaslini Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6143-6682","authenticated-orcid":false,"given":"Teresa","family":"Mattina","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Medical Genetics University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Casabona","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Section of Physiology University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences Medical Genetics University of Catania Catania Italy"},{"name":"Oasi Research Institute\u2010IRCCS Troina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit Department of Clinical and Experimental Medicine University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,25]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"1","article-title":"16p13.11 microduplication in 45 new patients: Refined clinical significance and genotype\u2010phenotype correlations","volume":"4","author":"Allach El Khattabi L.","year":"2018","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.1541"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.04.010"},{"key":"e_1_2_10_7_1","doi-asserted-by":"crossref","DOI":"10.1530\/EDM-17-0083","article-title":"Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome","volume":"2017","author":"Berges\u2010Raso I.","year":"2017","journal-title":"Endocrinology, Diabetes & Metabolism Case Reports"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.011"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004415"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3992"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31142"},{"key":"e_1_2_10_12_1","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1002\/ajmg.a.37595","article-title":"Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports","volume":"170","author":"Brownstein C. A.","year":"2016","journal-title":"American Journal of Medical Genetics Part A"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.15585\/mmwr.ss6503a1"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2008.01.009"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.12.016"},{"key":"e_1_2_10_16_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Girirajan S.","year":"2018"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-008-0674-3"},{"key":"e_1_2_10_18_1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.3389\/fpsyt.2019.00535","article-title":"Assessment of psychopathological comorbidities in children and adolescents with autism spectrum disorder using the child behavior checklist","volume":"26","author":"Guerrera S.","year":"2019","journal-title":"Frontiers Psychiatry"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.03.018"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30693"},{"key":"e_1_2_10_21_1","doi-asserted-by":"crossref","first-page":"l 363\u2013372","DOI":"10.1016\/j.ajhg.2015.12.014","article-title":"Small 6q16.1 deletions encompassing POU3F2 cause susceptibility to obesity and variable developmental delay with intellectual disability","volume":"98","author":"Kasher P. R.","year":"2016","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61539-1"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005592401947"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02172145"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0092695"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.150"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181ff67ba"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30590"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.184"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-017-3329-4"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-019-03908-2"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37077"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2017162934"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066795"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354095"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-011-1290-1"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pscychresns.2015.08.016"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.2044-8295.1993.tb02488.x"},{"key":"e_1_2_10_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.05.002"},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33699"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2019.04.011"},{"key":"e_1_2_10_44_1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.3389\/fncel.2019.00057","article-title":"Genomic copy number variations in the autism clinic\u2010work in progress","volume":"13","author":"Velinov M.","year":"2019","journal-title":"Frontiers in Cellular Neuroscience"},{"key":"e_1_2_10_45_1","unstructured":"Wechsler D.(2012).WISC\u2010IV Wechsler intelligence scale for children.Giunti OS Firenze."},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-014-0384-x"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjdn.10024","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10024","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.10024","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10024","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T12:58:07Z","timestamp":1694005087000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,25]]},"references-count":45,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1002\/jdn.10024"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10024","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,25]]},"assertion":[{"value":"2020-01-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}