{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:37Z","timestamp":1787014177975,"version":"build-2736575974"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["NIMH 5UO1MH101724"],"award-info":[{"award-number":["NIMH 5UO1MH101724"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["503147"],"award-info":[{"award-number":["503147"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012107","name":"Waterloo Foundation","doi-asserted-by":"publisher","award":["WF918\u20101234"],"award-info":[{"award-number":["WF918\u20101234"]}],"id":[{"id":"10.13039\/100012107","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001262","name":"Baily Thomas Charitable Fund","doi-asserted-by":"publisher","award":["2315\/1"],"award-info":[{"award-number":["2315\/1"]}],"id":[{"id":"10.13039\/501100001262","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012068","name":"Health and Care Research Wales","doi-asserted-by":"publisher","award":["507556"],"award-info":[{"award-number":["507556"]}],"id":[{"id":"10.13039\/100012068","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2019,5]]},"abstract":"Summary<\/jats:title>\n \n Objective<\/jats:title>\n \n The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2\n DS<\/jats:styled-content>\n ) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n The primary caregivers of 108 deletion carriers (mean age\u00a013.6\u00a0years) and 60 control siblings (mean age\u00a013.1\u00a0years) completed a validated epilepsy screening questionnaire. A subsample (n\u00a0=\u00a044) underwent a second assessment with interview, prolonged electroencephalography (\n EEG),<\/jats:styled-content>\n and medical record and epileptologist review.\n Intelligence quotient (IQ)<\/jats:styled-content>\n , psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire\/interview.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Eleven percent (12\/108) of deletion carriers had an epilepsy diagnosis (controls 0%,\n P<\/jats:italic>\n \u00a0=\u00a00.004). Fifty\u2010seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8\/60,\n P<\/jats:italic>\n \u00a0<\u00a00.001). A febrile seizure was reported for 24.1% (26\/107) of cases (controls 0%,\n P<\/jats:italic>\n \u00a0<\u00a00.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance\n IQ<\/jats:styled-content>\n (odds ratio [\n OR]<\/jats:styled-content>\n \u00a00.96,\n P<\/jats:italic>\n \u00a0=\u00a00.018),\n attention\u2010deficit\/hyperactivity disorder (ADHD<\/jats:styled-content>\n ) (\n OR<\/jats:styled-content>\n \u00a03.28,\n P<\/jats:italic>\n \u00a0=\u00a00.021), autism symptoms (\n OR<\/jats:styled-content>\n \u00a03.86,\n P<\/jats:italic>\n \u00a0=\u00a00.004), and indicative motor coordination disorder (\n OR<\/jats:styled-content>\n \u00a04.56,\n P<\/jats:italic>\n \u00a0=\u00a00.021).\n <\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n \n Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be \u201ctrue\u201d epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2\n DS<\/jats:styled-content>\n was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/epi.14722","type":"journal-article","created":{"date-parts":[[2019,4,12]],"date-time":"2019-04-12T06:24:29Z","timestamp":1555050269000},"page":"818-829","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders"],"prefix":"10.1111","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6739-1999","authenticated-orcid":false,"given":"Christopher B.","family":"Eaton","sequence":"first","affiliation":[{"name":"Medical Research Council Centre for Neuropsychiatric Genetics and Genomics Division of Psychological Medicine and Clinical Neurosciences Cardiff University School of Medicine Cardiff UK"},{"name":"Cerebra Centre for Neurodevelopmental Disorders School of Psychology University of Birmingham Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2062-8623","authenticated-orcid":false,"given":"Rhys H.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Medical Research Council Centre for Neuropsychiatric Genetics and Genomics Division of Psychological Medicine and Clinical Neurosciences Cardiff University School of Medicine Cardiff UK"},{"name":"Institute of Neuroscience Newcastle University Newcastle\u2010upon\u2010Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7116-262X","authenticated-orcid":false,"given":"Khalid","family":"Hamandi","sequence":"additional","affiliation":[{"name":"The Epilepsy Unit University Hospital of Wales Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5187-5323","authenticated-orcid":false,"given":"Gareth C.","family":"Payne","sequence":"additional","affiliation":[{"name":"Betsi Cadwaladr University Health Board Wales UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8533-336X","authenticated-orcid":false,"given":"Michael P.","family":"Kerr","sequence":"additional","affiliation":[{"name":"Medical Research Council Centre for Neuropsychiatric Genetics and Genomics Division of Psychological Medicine and Clinical Neurosciences Cardiff University School of Medicine Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5638-9292","authenticated-orcid":false,"given":"David E. 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