Non-pharmacological therapeutic needs in people with Dravet syndrome

• Published in: Epilepsy & behavior 2024-01, Vol.150, p.109553-109553, Article 109553
• Main Authors: Ballesteros-Sayas, Carla, Muñoz-Montero, Alicia, Giorgi, Simona, Cardenal-Muñoz, Elena, Turón-Viñas, Eulalia, Pallardó, Federico, Aibar, José Ángel
• Format: Article
• Language: English
• Subjects: Drug Resistant Epilepsy; Epilepsies, Myoclonic - genetics; Epilepsies, Myoclonic - therapy; Health Status; Humans; NAV1.1 Voltage-Gated Sodium Channel - genetics; Quality of Life - psychology; Surveys and Questionnaires
• ISSN: 1525-5050; 1525-5069
• DOI: 10.1016/j.yebeh.2023.109553

Dravet syndrome (DS) is a genetic rare disease, which is usually caused by a mutation in the SCN1A gene. DS is characterised by a drug-resistant epilepsy and by cognitive and behavioural disturbances. Thus, DS patients require both pharmacological and non-pharmacological treatments. However, there is a paucity of studies on non-pharmacological therapies and their potential benefits. The main aim of this study was to describe the non-pharmacological therapy modalities received by DS patients and their socio-economic impact on the family. Thus, we designed an online survey addressed to caregivers of DS patients. Our results indicated that up to 91.9% of the surveyed patients required non-pharmacological therapies, which were mainly directed to treat cognitive, sensory and motor impairments. In many cases, the economic costs of these therapies were borne entirely by the families. Nevertheless, patients required a deployment of resources not only at a health care level, but also at an educational level.