From first seizure to specific antiseizure medication in Dravet syndrome: Quantifying delays in the
DS
'
coverED
study
Loucas Christodoulou, Maria Ballarà Petitbò, Sergio Aguilera Albesa, Simona Borroni, Perrine Hugon, Ratna Kumar, Tullio Messana, Pierre Meyer, Frédéric Villéga, Kerstin A. Klotz Abstract
Objective
Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the diagnostic process within real‐world clinical pathways.
Methods
A steering committee—eight pediatric neurologists and one representative from the DS European Federation—developed a survey addressed to European pediatric neurologists experienced in DS management. Responders reported information on their medical practice and data on patients' diagnostic pathways from seizure onset to initiation of DS‐specific antiseizure medications (ASMs).
Results
Fifty‐three physicians participated in the study. Analysis of 45 patient diagnostic pathways revealed marked heterogeneity in the DS diagnostic pathway. The median age at formal diagnosis was 15 months, with a median interval of 11 months between seizure onset and diagnosis. While half of the patients received a diagnosis within 1 year of seizure onset, 25% were diagnosed after 23 months of age. Diagnostic delays were primarily associated with late referral to expert centers and prolonged access or turnaround times for genetic testing. Although 45% of responders requested genetic testing promptly after initial consultation, more than half waited for confirmatory results before formally communicating the diagnosis. Initiation of DS‐specific ASMs was inconsistent—occurring a median of 3 months after diagnosis but exceeding 9 months in 27% of cases—likely influenced by clinician caution, drug availability, and parental concerns regarding the treatment regimen.
Significance
DS'coverED seeks to fill a critical knowledge gap in the DS diagnostic pathway. The study provides healthcare professionals with benchmarks for refining their diagnostic practices and guiding clinical improvements—ongoing clinician education, better healthcare system coordination, and active caregiver engagement.
Plain Language Summary
The diagnosis of Dravet syndrome, a rare and severe form of childhood epilepsy, is still often delayed after the first seizure. The DS'coverED European survey explored each step of the diagnostic journey and identified residual barriers and opportunities to optimize the time to diagnosis and access to Dravet syndrome‐specific antiseizure medications. It provides physicians with actionable solutions that can help improve the diagnostic process of the condition.