{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T00:08:06Z","timestamp":1792195686486,"version":"4.4.0"},"reference-count":43,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T00:00:00Z","timestamp":1741046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009712","name":"Dravet Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009712","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2025,6]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n \n Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by\n SCN1A<\/jats:italic>\n haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n This cross\u2010sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior analyses and Moss\u2013Psychiatric Assessment Schedules checklist to screen for psychiatric symptoms. The Social Communication Questionnaire screened for social communication deficits. Parkinsonian features were evaluated with the modified Unified Parkinson's Disease Rating Scale. For gait evaluation, we validated the use of home videos, using instrumental gait analysis in a subgroup of patients, and then used the home videos for the remainder.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n A total of 92 patients were enrolled (age range\u2009=\u200918\u201351\u2009years, mean\u2009=\u200927.93\u2009\u00b1\u20098.59\u2009years). Sixty percent of caregivers observed a decline in previously acquired skills, including intelligence, speech, interaction with others, ability to climb stairs and walk without support, and hand coordination. Adaptive skills, parkinsonian symptoms, and gait were worse in older patients and those exposed to SCBs for longer periods of time. Fourteen percent of patients screened positive for affective disorders, 11.6% for dementia, and 10.5% for a psychotic disorder. Fifty\u2010three percent screened positive for social communication deficits.<\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n This is the largest group of adults with DS to be systematically evaluated. They had severe nonseizure symptoms. Older age and longer use of SCBs were associated with worse adaptive skills, gait, and parkinsonism. Some older adults screened positive for depression and dementia. Caregivers identified functional decline in activities of daily living (ADLs). Taken together, the risk of dementia, parkinsonian gait, and decline in ability to perform previously mastered ADLs support that some adults with DS may be developing a neurodegenerative disorder.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/epi.18329","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T17:41:12Z","timestamp":1741714872000},"page":"1975-1987","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Dravet syndrome: From neurodevelopmental to neurodegenerative disease?"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6712-3940","authenticated-orcid":false,"given":"Arunan","family":"Selvarajah","sequence":"first","affiliation":[{"name":"Adult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8921-9089","authenticated-orcid":false,"given":"Andrea","family":"Sabo","sequence":"additional","affiliation":[{"name":"Kite Research Institute, University Health Network University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0007-9591","authenticated-orcid":false,"given":"Carolina","family":"Gorodetsky","sequence":"additional","affiliation":[{"name":"Division of Neurology, Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1303-9273","authenticated-orcid":false,"given":"Paula T.","family":"Marques","sequence":"additional","affiliation":[{"name":"Adult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9576-9001","authenticated-orcid":false,"given":"Ilakkiah","family":"Chandran","sequence":"additional","affiliation":[{"name":"Adult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital University of Toronto Toronto Ontario Canada"},{"name":"Institute of Medical Sciences, University of Toronto University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7114-1554","authenticated-orcid":false,"given":"Miles","family":"Thompson","sequence":"additional","affiliation":[{"name":"Adult Genetic Epilepsy Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3984-5276","authenticated-orcid":false,"given":"Quratulain","family":"Zulfiqar Ali","sequence":"additional","affiliation":[{"name":"Institute of Medical Sciences, University of Toronto University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2287-5145","authenticated-orcid":false,"given":"Mary Pat","family":"McAndrews","sequence":"additional","affiliation":[{"name":"Division of Brain, Imaging, & Behaviour, Department of Neuropsychology, Krembil Neurosciences Institute University of Toronto, University Health Network Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5944-8497","authenticated-orcid":false,"given":"Maria Carmela","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Toronto Western Hospital Krembil Neuroscience Centre University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0236-4361","authenticated-orcid":false,"given":"Victor S. 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