Authors :
Simona Giorgi, PhD – Dravet Syndrome Foundation Spain
Ana Cantó-Martínez, BS – Dravet Syndrome Foundation Spain
Eulalia Turón-Viñas, MD – Hospital de la Santa Creu i Sant Pau, IIBSP Research Institute, Barcelona, Spain.
Rima Nabbout, MD – Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute U1163, Paris Descartes University, Paris, France.
Isabella Brambilla, BS – Dravet Italia Onlus Verona, Italy; Epag ERN EpiCare, Verona, Italy; Research Center For Pediatric Epilepsies (CREP), Department of Surgery, Dentistry, Paediatrics and Gynecology, University of Verona, Verona, Italy
Franck Kalume, PhD – Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington; Department of Neurological Surgery, University of Washington, Seattle, Washington.
Danielle Andrade, MD, MSc, FRCPC – Institute of Medical Science, University of Toronto
David Alarcón-Alarcón, PhD – Dravet Syndrome Foundation Spain, Madrid, Spain; Universidad Europea de Valencia, Alicante, Spain
Presenting Author: José Ángel Aibar, BS – Dravet Syndrome Foundation Spain
Rationale:
Developmental and Epileptic Encephalopathies (DEEs) are a group of rare, severe neurological disorders marked by early-onset epilepsy, developmental delays or regression, and significant cognitive and behavioral challenges. Sudden Unexpected Death in Epilepsy (SUDEP) remains the leading cause of mortality among individuals with epilepsy.
This study aimed to assess caregivers’ awareness of SUDEP, the sources of their information, and the strategies they employ to manage this risk.
Methods:
An anonymous, multilingual survey—translated into 18 languages with back-to-back translation—was distributed globally through patient advocacy organizations to caregivers of individuals with DEEs. The questionnaire explored caregivers’ knowledge of SUDEP, how they learned about it, and their emotional and practical responses. Descriptive statistics were used to analyze categorical and continuous data.
Results:
A total of 670 responses were collected from caregivers worldwide. The majority reported not receiving SUDEP-related information from healthcare professionals, yet many felt adequately informed. A high percentage of caregivers described as inadequate the time elapsed from the occurrence of the first seizure to the communication of this risk and, when SUDEP was discussed, the experience was often described as distressing. Despite limited formal education on the topic, respondents demonstrated a high level of awareness. Common emotional responses included fear, anxiety, sadness, and uncertainty, with many caregivers thinking about SUDEP daily. Emotional support was rarely offered. About half of the respondents had implemented preventive actions—such as cardiopulmonary resuscitation training and seizure/night monitoring—though many lacked financial support, and these measures did not significantly ease their concerns. Many caregivers highlighted the lack of knowledge about the existence of preventive measures.
Conclusions:
This study highlights critical gaps in communication, emotional support, and resources for families affected by DEEs regarding SUDEP. Understanding and assessing these unmet needs is essential for developing tailored, effective interventions that improve quality of life, both for the patients and their caregivers, and risk management.
Funding:
This Investigator Initiated Study was financially supported by UCB Biopharma SRL. UCB IIS-2024-600503; Dravet Syndrome Foundation Spain