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Title: Severe Communication Delays Are Independent of Seizure Burden and Persist Despite Contemporary Treatments in SCN1A+ Dravet Syndrome: Insights from the ENVISION Natural History Study.
Austin Authors: Perry, M Scott;Scheffer, Ingrid E ;Sullivan, Joseph;Brunklaus, Andreas;Boronat, Susana;Wheless, James W;Laux, Linda;Patel, Anup D;Roberts, Colin M;Dlugos, Dennis;Holder, Deborah;Knupp, Kelly G;Lallas, Matt;Phillips, Steven;Segal, Eric;Smeyers, Patricia;Lal, Dennis;Wirrell, Elaine;Zuberi, Sameer;Brünger, Tobias;Wojnaroski, Mary;Maru, Benit;O'Donnell, Penrose;Morton, Magda;James, Emma;Vila, Maria Candida;Huang, Norman;Gofshteyn, Jacqueline S;Rico, Salvador
Affiliation: Cook Children's Medical Center, Fort Worth, Texas, USA.
Austin Health
University of California at San Francisco, San Francisco, California, USA.
School of Health & Wellbeing, University of Glasgow, Glasgow, Scotland.
Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Le Bonheur Children's Hospital, Memphis, Tennessee, USA.
Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Nationwide Children's Hospital, Columbus, Ohio, USA.
Doernbecher Children's Hospital, Portland, Oregon, USA.
Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Cedars-Sinai Medical Center, Los Angeles, California, USA.
Children's Hospital Colorado, Aurora, Colorado, USA.
Nicklaus Children's Hospital, Miami, Florida, USA.
Multicare Health System, Tacoma, Washington, USA.
Northeast Regional Epilepsy Group, Hackensack, New Jersey, USA.
Hospital Universitari i Politècnic la Fe, Valencia, Spain.
UTHealth Houston, Houston, Texas, USA.
Mayo Clinic, Rochester, Minnesota, USA.
School of Health & Wellbeing, University of Glasgow, Glasgow, Scotland.
UTHealth Houston, Houston, Texas, USA.
Nationwide Children's Hospital, Columbus, Ohio, USA.
SSI Strategy, London, UK.
Issue Date: 4-Dec-2023
Date: 2023
Publication information: Epilepsia 2023-12-04
Abstract: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden, treatment-resistant 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. ENVISION was a prospective, observational study evaluating children with DS associated with SCN1A pathogenic variants (SCN1A+ DS) enrolled at age <5 years. Seizure burden and antiseizure medications were assessed every 3 months and communication and language every 6 months with the Bayley Scales of Infant and Toddler Development 3rd edition (BSID-III) and the parent-reported Vineland Adaptive Behavior Scales 3rd Edition (VABS-III). We report data from the first year of observation, including analyses stratified by age at Baseline: 0:6-2:0 years:months (youngest), 2:1-3:6 years:months (middle) and 3:7-5:0 years:months (oldest). Between December 2020 and March 2023, 58 children with DS enrolled at 16 sites internationally. Median follow-up was 17.5 months (range: 0.0-24.0), with 54/58 (93.1%) followed for at least 6 months and 51/58 (87.9%) for 12 months. Monthly countable seizure frequency (MCSF) increased with age (median [min-max]: 1.0 in the youngest [1.0-70.0] and middle [1.0-242.0] age groups and 4.5 [0.0-2647.0] 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 years with both instruments. In predictive modeling, chronologic age was the only significant covariate of seizure frequency (effect size 0.52, P=0.024). MCSF, number of antiseizure medications, age at first seizure, and convulsive status epilepticus were not predictors of language/communication raw scores. In infants and young children with SCN1A+ DS, language/communication delay and stagnation were independent of seizure burden. Our findings emphasize the optimal therapeutic window to prevent language/communication delay is before 3 years of age.
DOI: 10.1111/epi.17850
ORCID: 0000-0002-1825-846X
Journal: Epilepsia
PubMed URL: 38049202
ISSN: 1528-1167
Type: Journal Article
Subjects: Communication/language delays
Developmental and epileptic encephalopathy
Dravet syndrome
Natural history study
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