{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T03:37:16Z","timestamp":1792035436174,"version":"4.4.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,22]],"date-time":"2023-12-22T00:00:00Z","timestamp":1703203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment\u2010resistant epilepsy, and developmental stagnation. Family members rate communication deficits among the most impactful disease manifestations. We evaluated seizure burden and language\/communication development in children with DS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      ENVISION was a prospective, observational study evaluating children with DS associated with\n                      <jats:italic>SCN1A<\/jats:italic>\n                      pathogenic variants (\n                      <jats:italic>SCN1A<\/jats:italic>\n                      + DS) enrolled at age\u2009\u22645\u2009years. Seizure burden and antiseizure medications were assessed every 3\u2009months and communication and language every 6\u2009months with the Bayley Scales of Infant and Toddler Development 3rd edition and the parent\u2010reported Vineland Adaptive Behavior Scales 3rd edition. We report data from the first year of observation, including analyses stratified by age at Baseline: 0:6\u20132:0\u2009years:months (Y:M; youngest), 2:1\u20133:6\u2009Y:M (middle), and 3:7\u20135:0\u2009Y:M (oldest).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Between December 2020 and March 2023, 58 children with DS enrolled at 16 sites internationally. Median follow\u2010up was 17.5\u2009months (range = .0\u201324.0), with 54 of 58 (93.1%) followed for at least 6\u2009months and 51 of 58 (87.9%) for 12\u2009months. Monthly countable seizure frequency (MCSF) increased with age (median [minimum\u2013maximum] =\u20091.0 in the youngest [1.0\u201370.0] and middle [1.0\u2013242.0] age groups and 4.5 [.0\u20132647.0] in the oldest age group), and remained high, despite use of currently approved antiseizure medications. Language\/communication delays were observed early, and developmental stagnation occurred after age 2\u2009years with both instruments. In predictive modeling, chronologic age was the only significant covariate of seizure frequency (effect size = .52,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.024). MCSF, number of antiseizure medications, age at first seizure, and convulsive status epilepticus were not predictors of language\/communication raw scores.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      In infants and young children with\n                      <jats:italic>SCN1A<\/jats:italic>\n                      + DS, language\/communication delay and stagnation were independent of seizure burden. Our findings emphasize that the optimal therapeutic window to prevent language\/communication delay is before 3\u2009years of age.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.17850","type":"journal-article","created":{"date-parts":[[2023,12,4]],"date-time":"2023-12-04T20:49:57Z","timestamp":1701722997000},"page":"322-337","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Severe communication delays are independent of seizure burden and persist despite contemporary treatments in\n                    <i>SCN1A<\/i>\n                    + Dravet syndrome: Insights from the\n                    <scp>ENVISION<\/scp>\n                    natural history study"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1825-846X","authenticated-orcid":false,"given":"M. Scott","family":"Perry","sequence":"first","affiliation":[{"name":"Cook Children's Medical Center  Fort Worth Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2311-2174","authenticated-orcid":false,"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"University of Melbourne, Austin Health  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Sullivan","sequence":"additional","affiliation":[{"name":"University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7728-6903","authenticated-orcid":false,"given":"Andreas","family":"Brunklaus","sequence":"additional","affiliation":[{"name":"School of Health &amp; Wellbeing University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Boronat","sequence":"additional","affiliation":[{"name":"Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James W.","family":"Wheless","sequence":"additional","affiliation":[{"name":"Le Bonheur Children's Hospital  Memphis Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Laux","sequence":"additional","affiliation":[{"name":"Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9313-1541","authenticated-orcid":false,"given":"Anup D.","family":"Patel","sequence":"additional","affiliation":[{"name":"Nationwide Children's Hospital  Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin M.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Doernbecher Children's Hospital  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Dlugos","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Holder","sequence":"additional","affiliation":[{"name":"Cedars\u2010Sinai Medical Center  Los Angeles California 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