Analysis of the family impact and needs of Dravet's syndrome in Spain

Introduction. Dravet's syndrome (DS) is an epileptic encephalopathy that starts in infancy and has an important impact on the lives of patients and their relatives. There is currently a need for improvement in diagnosis and treatment: two drugs have been approved for the treatment of DS in Europe, although new treatments are under development or are scheduled for commercialisation soon. Aims. To understand the situation of DS in Spain and to identify opportunities for improvement. Subjects and methods. The study will involve an analysis of data from a European macro-survey in which carers of patients with DS expressed their experience with the disease. Results. Data from 57 families with children with DS (mean age: 9 years). The time to diagnosis, usually after another misdiagnosis (80%), increases in older patients (80% of adults: diagnostic delay > 4 years). The delay induces an increased use of contraindicated antiepileptic drugs. Seizures (87% of cases; the most frequent, tonic-clonic: 90%) and hospitalisations (60% of cases) continue into adulthood. The severity of the illness and the number of hospitalisations correlate with impact on caregivers and family. The effectiveness of treatments and the future of patients are the greatest concerns. Conclusions. In order to improve the management and quality of life of patients with DS and their families, it is necessary to have an early diagnosis and to incorporate new treatments that help to control the epileptic seizures and the comorbidities of the disease.