Authors :
Presenting Author: Benjamin Serraz, PharmD, PhD – Biocodex
Sergio Aguilera-Albesa, MD – Pediatric Neurology Unit, Department of Pediatrics – Hospital Universitario de Navarra, Pamplona, Spain; Maria Ballarà Petitbò, MD – Department of Neuropediatrics – Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Salomé Benichou, PharmD – Medical Affairs – Biocodex; Simona Borroni, PAG representative – Fédération Européenne pour le syndrome de Dravet, Paris, France / Gruppo Famiglie Dravet Onlus, Milan, Italy.; Loucas Christodoulou, MD – 3. Chelsea and Westminster NHS Foundation Trust, Department of Paediatrics – West Middlesex University Hospital, Twickenham Rd, Isleworth TW7 6AF, England; Kerstin A. Klotz, MD – Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Freiburg, Germany.; Tullio Messana, MD – UOC Neuropsichiatria dell'età pediatrica, Member of the ERN EpiCare – IRCCS Istituto delle Scienze Neurologiche di Bologna via Altura n 3, 40139, Bologna, Italy; Pierre Meyer, MD – Neuropediatric unit – CHU de Montpellier, Montpellier, France; Frédéric Villéga, MD – Neuropediatric unit – CIC-P 1401, CNRS UMR 5297, Bordeaux, France
Rationale:
Dravet syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly manifests in the first year of life. Despite growing awareness among physicians about this epilectic syndrome, a substantial delay from seizure onset to diagnosis may occur. 1
The European DS’COVERED study aims to model the different steps of the diagnostic pathway in infants with DS and evaluate the length of these steps in multiple centers. In doing so, we aim to identify concrete and specific areas of improvement and propose tailored tools and solutions for healthcare professionals to improve the time to diagnosis. In this abstract, we present the results of the qualitative phase.
1. Bremer A, Lossius MI, Nakken KO. Dravet syndrome - considerable delay in making the diagnosis. Acta Neurol Scand. 2012;125(5):359-62
Methods:
A European steering committee (SC) consisting of nine neuropediatricians involved in DS management and one representative from the DS European Federation, was formed to guide the DS’COVERED study. This is then conducted in two phases: (1) a series of individual qualitative interviews with the SC members to establish the key steps of the DS diagnostic pathway followed by a group meeting; (2) an online quantitative survey to form a picture of the key diagnostic steps and their duration in multiple European centers.
Results:
Among the factors that seem to influence diagnostic delays, some are patient-specific such as age at seizure onset, type, severity, and duration of the first seizure, initial seizure frequency, and the geographic distance from the patient’s home to an expert center. Others are related to the care pathway itself: the time to first consultation with a specialist, the information relay between the point of first presentation (e.g. emergency department) and neuropediatric services, the time to request genetic testing and thereafter to obtain results, electroencephalogram testing and the ability to interpret the subtle changes that can occasionally be seen at seizure onset. Finally, a few factors concerning the practice of the physicians themselves: a higher level of expertise may raise an early suspicion of DS, leading to a prompt initiation of a treatment with orphan drug designation for DS even before occurrence of any developmental slowing or regression and before obtaining the genetic test results.
Conclusions:
Beyond the characteristics of the pathology, the time to diagnosis seems significantly influenced by the delay of referral to a DS specialist, the delay in obtaining genetic test results, but also the complexity to make an early and certain diagnosis purely on clinical features alone before test results and the emergence of developmental comorbidities.
These results will be further investigated in the quantitative phase.Funding:
This study has been financially supported by Biocodex.
Total character count : 2970