Rima Nabbout1, Stephane Auvin2, Catherine Chiron1, Elizabeth Thiele3, Helen Cross4, Ingrid E Scheffer5,6, Amy L Schneider5, Renzo Guerrini7, Nicola Williamson8. 1. Reference Centre for Rare Epilepsies, Necker-Enfants Malades, Inserm U1163, Paris, France. 2. Hôpital Robert Debré, APHP, Inserm U1141, Paris, France. 3. Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital, Boston, MA, USA. 4. Great Ormond Street Institute of Child Health, University College London, London, UK. 5. Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia. 6. Florey and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. 7. The Meyer Children's Hospital, University of Florence, Florence, Italy. 8. PCO, Adelphi Values Ltd, Bollington, UK.
Abstract
AIM: To assess the relevance and generalizability across countries of concepts of the impact of Dravet syndrome beyond seizures, as recognized by families. METHOD: Caregivers of children with Dravet syndrome in four countries (Australia [n=8]; USA, UK, and Italy [all n=4]) participated in 1-hour qualitative telephone interviews, identifying key Dravet syndrome concepts. Interviews were recorded, transcribed, and, where necessary, translated into English for thematic analysis. Conceptual saturation was assessed and findings compared to the previously developed French conceptual disease model. RESULTS: The most common seizure types reported by caregivers were tonic-clonic, absence, or focal-impaired awareness (localized/partial). Fever and physical activity were the most commonly reported triggers. Patient-relevant impacts included impairment in cognition, motor skills, communication, social skills, and behavioural functioning. Caregivers consistently reported negative social, physical, and family impacts. Concepts identified in the interviews showed similarity with the French conceptual model. Minor differences between countries are likely to reflect variations in health care systems. INTERPRETATION: Findings in Italy, Australia, UK, and USA confirm that the key impacts of Dravet syndrome on children and caregivers identified in France are generalizable across countries. Key symptom and impact concepts relevant to children and parents should be targeted as critical outcomes in new therapy evaluations. WHAT THIS PAPER ADDS: Relevance of the impact of Dravet syndrome on children and caregivers was confirmed across countries. Patient and caregiver-relevant Dravet syndrome impacts contribute to poorer health-related quality of life. Indirect seizure impacts were reported to be as important as direct impacts. Country-specific differences in concepts probably reflect differences in health care systems.
AIM: To assess the relevance and generalizability across countries of concepts of the impact of Dravet syndrome beyond seizures, as recognized by families. METHOD: Caregivers of children with Dravet syndrome in four countries (Australia [n=8]; USA, UK, and Italy [all n=4]) participated in 1-hour qualitative telephone interviews, identifying key Dravet syndrome concepts. Interviews were recorded, transcribed, and, where necessary, translated into English for thematic analysis. Conceptual saturation was assessed and findings compared to the previously developed French conceptual disease model. RESULTS: The most common seizure types reported by caregivers were tonic-clonic, absence, or focal-impaired awareness (localized/partial). Fever and physical activity were the most commonly reported triggers. Patient-relevant impacts included impairment in cognition, motor skills, communication, social skills, and behavioural functioning. Caregivers consistently reported negative social, physical, and family impacts. Concepts identified in the interviews showed similarity with the French conceptual model. Minor differences between countries are likely to reflect variations in health care systems. INTERPRETATION: Findings in Italy, Australia, UK, and USA confirm that the key impacts of Dravet syndrome on children and caregivers identified in France are generalizable across countries. Key symptom and impact concepts relevant to children and parents should be targeted as critical outcomes in new therapy evaluations. WHAT THIS PAPER ADDS: Relevance of the impact of Dravet syndrome on children and caregivers was confirmed across countries. Patient and caregiver-relevant Dravet syndrome impacts contribute to poorer health-related quality of life. Indirect seizure impacts were reported to be as important as direct impacts. Country-specific differences in concepts probably reflect differences in health care systems.
Authors: Adam Strzelczyk; Gerhard Kurlemann; Thomas Bast; Ulrich Bettendorf; Gerhard Kluger; Thomas Mayer; Bernd A Neubauer; Tilman Polster; Sarah von Spiczak; Regina Trollmann; Markus Wolff; Toby Toward; Jens Gruenert; Eddie Gibson; Clive Pritchard; Joe Carroll; Felix Rosenow; Susanne Schubert-Bast Journal: Neurol Res Pract Date: 2022-06-06