Abstracts

Rationale: The consensus guidelines in Dravet syndrome (DS) have changed over the last decade. The aim of this study is to assess the evolution of diagnosis and management approaches utilized in DS.

Methods: We conducted a study involving patients diagnosed with DS and confirmed SCN1A pathogenic or likely pathogenic variants between 2014 and 2023. The study was approved by the Boston Children’s Hospital Institutional Review Board. We analyzed the timing of genetic diagnosis, seizure management strategies, comorbidity assessments for developmental delay (DD) and neurodevelopmental disorders (NDD), as well as documentation of counseling on the risk of DD/NDD, sudden unexpected death in epilepsy (SUDEP), sleep problems, and vaccinations. We compared patients who had their first seizure in 2018 or later to those who had their first seizure before 2018 in accordance with the recommendations outlined in the consensus guidelines [1, 2].


Results: This study included 48 patients with DS, with a mean age of 88.4 months [standard deviation (SD) = 31.6, range 24-158]. The mean age of seizure onset was 5.6 months (SD = 4.2, range 2-12), and the mean interval between first seizure and genetic testing was 13.4 months (SD = 19.9, range 0-79). The time from first seizure to genetic testing was significantly shorter in patients who had their first seizure in 2018 or later compared to those who had their first seizure before 2018 (p=0.001) (Figure I). The interval from the first seizure to genetic testing was significantly shorter in patients with a first seizure before 6 months compared to those with a first seizure at 6 months or later (p< 0.001). The most common antiseizure medications were clobazam (75%), cannabidiol (60%), and valproate (54%) which followed by topiramate (40%), ketogenic diet (25%), fenfluramine (20%), and stiripentol (10%). A seizure action plan was in place for all patients, and a status epilepticus action plan was documented in 21% of the patients. Counseling on the risk of DD/NDD (90%), SUDEP (52%), sleep problems (38%) and appropriate vaccination (33%) was provided to a substantial portion of patients. A significant percentage of patients underwent formal evaluation for developmental delay (DD) (77%), neurodevelopmental disorders (NDD) (69%), and sleep problems (13%).