Authors :
Presenting Author: Simona Giorgi, PhD – Dravet Syndrome Foundation Spain
Ana Cantó-Martínez, BS – Dravet Syndrome Foundation Spain
Valeria Herrera-Castaño, BS – Dravet Syndrome Foundation Spain
Rocío Calvo Medina, MD – Hospital Regional Universitario de Málaga, Málaga, Spain
Dulce Campos, MD – Epilepsy Unit, Neurology Service, Hospital Clínico de Valladolid, Valladolid, Spain
Pilar Díaz, BS – Dravet Syndrome Foundation Spain
Bosco García de Viedma, BS – Pelayo Lawyers, Madrid, Spain
María Lorenzo Ruiz, MD – Hospital Universitario Puerta de Hierro Majadahonda, Spain
Sandra López Torrejón, BS – ASPACE Cáceres, Cáceres, Spain
Ana Martínez Virto, MD – Hospital Universitario de La Paz, Madrid, Spain
Carmen Polo, BS – Psicomotora Clinic, Seville, Spain
Pablo Quiroga Subirana, MD – Hospital Universitario Torrecárdenas, Almeria, Spain
Lorena Rodríguez González, PhD – NeuroKiD Clinic, Valencia, Spain
Natalia Rubio Arribas, BS – Asociación Estatal Sexualidad y Discapacidad, Burgos, Spain
Manuel Toledo Argany, MD, PhD – Epilepsy Unit, Neurology Department, Hospital Vall d´Hebron
Vicente Villanueva Haba, MD, Phd – Refractory Epilepsy Unit, Neurology Service, Hospital Universitario y Politécnico La Fe, Valencia, Spain
José Ángel Aibar, BS – Dravet Syndrome Foundation Spain
Rationale:
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that persists into adulthood, yet adult patients remain largely invisible in clinical practice and research. The lack of structured transition protocols from pediatric to adult care contributes to fragmented healthcare, unmet needs, and reduced quality of life for patients and caregivers. This project, led by Fundación Síndrome de Dravet, aimed to characterize the adult DS population in Spain and develop the first national transition guide based on empirical data and multidisciplinary consensus.
Methods:
The project followed a three-phase methodology: (1) A national survey of 32 caregivers of individuals aged ≥16 with DS assessed clinical status, comorbidities, autonomy, emotional well-being, and satisfaction with care. (2) A literature review and expert consultations with neurologists, pediatricians, psychologists, social workers, and legal advisors informed the design. (3) A transition guide was developed, including templates, protocols, and timelines.
Results:
Survey results revealed high levels of severe intellectual and motor disability, behavioral disorders, and caregiver burden. Most patients required care from ≥4 specialists, yet interprofessional coordination was minimal. Only a minority had individualized emergency protocols or legal support plans. The transition experience was rated poorly by caregivers. The resulting guide proposes a phased transition from ages 12 to 19, including: annual health and caregiver management assessments; identification of adult care teams; legal and psychosocial support (e.g., guardianship, disability benefits); educational transition planning; and structured handover between pediatric and adult services. Tools include checklists, medical summaries, emergency protocols, and caregiver training materials.
Conclusions:
This project addresses a critical gap in the care continuum for adults with DS by providing a replicable, evidence-based transition model. The guide empowers families, improves clinical coordination, and enhances patient safety and equity. It also offers a scalable framework for other rare epileptic encephalopathies. Implementation of structured transition protocols is essential to ensure lifelong, person-centered care for individuals with DS.
Funding:
Dravet Syndrome Foundation Spain