Authors :
Presenting Author: Ingrid Scheffer, AO, MBBS, PhD, FRACP, FAA, FAHMS, FRS – University of Melbourne, Austin Health
M. Scott Perry, MD – Cook Children’s Medical Center; Joseph Sullivan, MD – University of California at San Francisco; Andreas Brunklaus, MD – Royal Hospital for Children; Susana Boronat, MD, PhD – Hospital de la Santa Creu i Sant Pau; James Wheless, MD – Le Bonheur Children's Hospital; Linda Laux, MD – Ann & Robert H. Lurie Children's Hospital of Chicago; Anup Patel, MD – Nationwide Children’s Hospital; Colin Roberts, MD – Doernbecher Children’s Hospital; Dennis Dlugos, PhD – Children’s Hospital of Philadelphia; Deborah Holder, MD – Children's Hospital Los Angeles; Kelly Knupp, MD – Children’s Hospital Colorado; Matt Lallas, MD – Nicklaus Children’s Hospital; Steven Phillips, MD – Multicare Health System; Eric Segal, MD – Northeast Regional Epilepsy Group; Patricia Smeyers, MD, PhD – Hospital Universitari i Politècnic la Fe; Dennis Lal, PhD – Cleveland Clinic Lerner Research Institute; Elaine Wirrell, MD – Mayo Clinic; Sameer Zuberi, MD – Royal Hospital for Children; Tobias Brünger, PhD Cand. – Cleveland Clinic Neurological Institute; Mary Wojnaroski, PhD – Nationwide Children’s Hospital; Magda Morton, PhD – Encoded Therapeutics; Rosie O’Donnell, MD – Encoded Therapeutics; Benit Maru, PhD – SSI Strategy; Maria Candida Vila, PharmD, PhD – Encoded Therapeutics; Emma James, PhD – Encoded Therapeutics; Norman Huang, PhD – Encoded Therapeutics; Jacqueline Gofshteyn, MD – Encoded Therapeutics; Salvador Rico, MD, PhD – Encoded Therapeutics
Rationale:
Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by high seizure burden and developmental delay. Family members rate communication deficits among the most impactful disease manifestations. ENVISION, a prospective natural history study, evaluated the course and impact of DS in young children and their families. Here, we present up to 18 months of data focusing on the seizure burden and language/communication delay and stagnation observed in the study.
Methods:
This longitudinal, prospective study assessed children with SCN1A+ DS, aged six months to five years, every three months. Seizure burden was tracked using an electronic seizure diary, and language/communication skills were evaluated using BSID-III and Vineland-III tools. Summary analyses of all data were performed using R.
Results:
Between December 2020 and March 2023, 58 children with DS were enrolled at 16 sites worldwide (median age 2.3 years). 27/58 (47%) of participants were <