{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T09:44:33Z","timestamp":1791539073386,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["331436"],"award-info":[{"award-number":["331436"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["338446"],"award-info":[{"award-number":["338446"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"publisher","award":["356676"],"award-info":[{"award-number":["356676"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008723","name":"Suomen L\u00e4\u00e4ketieteen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008723","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008488","name":"Stiftelsen Alma och K. A. Snellman S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008488","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005744","name":"Lastentautien Tutkimuss\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005744","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To examine the clinical and genetic characteristics of intellectual disability.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We conducted a population\u2010based retrospective analysis on the clinical and genetic data of 959 children with diagnosed intellectual disability during a 5\u2010year period (2017\u20132021) at Oulu University Hospital, Finland.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic or likely pathogenic gene variants were detected in 89 of 194 patients (46%) who underwent exome sequencing. Chromosomal abnormalities, including those with low penetrance, were observed in 106 of 530 patients (20%) who underwent chromosomal microarray testing. Chromosomal abnormalities and causative gene variants were more frequently identified in patients with moderate to profound intellectual disability than in those with mild intellectual disability; however, this difference was not significant in the diagnostic yield analysis. Epilepsy, congenital heart disease, hearing loss, ophthalmological abnormalities, and autism spectrum disorder were more common among patients with moderate to profound intellectual disability, whereas attention\u2010deficit\/hyperactivity disorder was associated with mild intellectual disability. Chromosomal abnormalities were associated with congenital heart disease and hearing loss, while pathogenic gene variants were associated with epilepsy and ophthalmological abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Somatic comorbidities were more common in moderate to profound intellectual disability, whereas attention\u2010deficit\/hyperactivity disorder was more frequent in mild intellectual disability.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/dmcn.70252","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T05:01:18Z","timestamp":1773810078000},"page":"1601-1609","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and genetic characterization of intellectual disability"],"prefix":"10.1111","volume":"68","author":[{"given":"Aarni","family":"Venetvaara","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minna","family":"Kraatari\u2010Tiri","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jussi\u2010Pekka","family":"Tolonen","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Pediatric Neurology Unit Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Merikukka","sequence":"additional","affiliation":[{"name":"Research Service Unit, Research Unit of Clinical Medicine Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"IDGEN Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonna","family":"Komulainen\u2010Ebrahim","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Pediatric Neurology Unit Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jukka","family":"Moilanen","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Uusimaa","sequence":"additional","affiliation":[{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Pediatric Neurology Unit Oulu University Hospital  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"Kuismin","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2760-7059","authenticated-orcid":false,"given":"Elisa","family":"Rahikkala","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Oulu University Hospital  Oulu Finland"},{"name":"Research Unit of Clinical Medicine and Medical Research Center Oulu Oulu University Hospital and University of Oulu  Oulu Finland"},{"name":"Genomics Unit, Laboratory Division Turku University Hospital  Turku Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019\u20102623"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.16315.1"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci13020231"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-021-02268-1"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-017-0012-2"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010018\u201008262\u2010y"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1508093112"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12351"},{"key":"e_1_2_10_10_1","unstructured":"World Health Organization.Preterm birth. World Health Organization Internet sites.2023.https:\/\/www.who.int\/news\u2010room\/fact\u2010sheets\/detail\/preterm\u2010birth(accessed 1 Oct 2024)."},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001727\u20102"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049490"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2504747"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0554-6"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0773-x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aar6731"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01581-3"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.70252","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/dmcn.70252","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/dmcn.70252","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:33:41Z","timestamp":1791495221000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/dmcn.70252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,17]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2026,11]]}},"alternative-id":["10.1111\/dmcn.70252"],"URL":"https:\/\/doi.org\/10.1111\/dmcn.70252","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,17]]},"assertion":[{"value":"2025-06-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}