Figura. Flujo de pacientes con síndrome de Dravet en España.
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain
Introduction. Dravet syndrome (DS) is a rare, drug resistant epilepsy that starts very early in life with febrile seizures
followed by cognitive impairment and diverse seizure types.
Aim. To generate evidence on the epidemiology of DS, its diagnosis, patient-flow, treatment and unmet needs from the
perspective of Spanish experts.
Development. A two-round Delphi study involving 19 physicians was conducted. Questionnaires were based on literature
review and validated by clinical experts. Consensus was reached when topics were subject to routine clinical practice and
individual experience, or the coefficient of variation among answers was ≤ 0.3. The estimated number of new DS patients
is 73 per year. Prevalence is estimated to be between 348-540 patients. DS is mostly diagnosed in children. Survival varies
from 5 to 60 years. There is no standardised follow-up of patients beyond the age of 18 and mortality rates are uncertain.
No standard guidelines exist for diagnosing or treating DS. It takes 9 to 15 months to confirm the diagnosis and genetic
testing is unevenly available. Valproic acid, clobazam, stiripentol and topiramate are commonly used. Poor efficacy and
safety are the main reasons for treatment switch.
Conclusions. The epidemiology of DS in Spain is not well known and several areas of unmet needs still exist. Experts’ views
offer a starting point for further research into the reality of DS in Spain. Epidemiological studies, consensus criteria, easy
access to genetic testing, treatment options, training and research into quality of life aspects are highly needed.
Key words. Consensus. Diagnosis. Disease management. Epidemiology. Myoclonic epilepsies. Spain.