International consensus on diagnosis and management of Dravet syndrome.

Journal: Epilepsia

Volume: 63

Issue: 7

Year of Publication: 2022

Affiliated Institutions:  Divisions of Child and Adolescent Medicine and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. Dravet Syndrome Foundation, Cherry Hill, New Jersey, USA. Departments of Pediatrics and Neurology, University of Colorado, Anschutz Campus, Aurora, Colorado, USA. Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Necker-Enfants Malades Hospital, Member of European Reference Network EpiCARE, University of Paris, Paris, France. Austin Health and Royal Children's Hospital, Florey Institute of Neuroscience and Mental Health, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia. Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, Neuroscience Institute, University of Cape Town, Cape Town, South Africa. Departments of Neurology and Pediatrics, Benioff Children's Hospital, University of California, San Francisco, San Francisco, California, USA.

Abstract summary 

This study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis and management of Dravet syndrome (DS), in the context of recently approved, DS-specific therapies and emerging disease-modifying treatments.A core working group was convened consisting of six physicians with recognized expertise in DS and two representatives of the Dravet Syndrome Foundation. This core group summarized the current literature (focused on clinical presentation, comorbidities, maintenance and rescue therapies, and evolving disease-modifying therapies) and nominated the 31-member expert panel (ensuring international representation), which participated in two rounds of a Delphi process to gain consensus on diagnosis and management of DS.There was strong consensus that infants 2-15 months old, presenting with either a first prolonged hemiclonic seizure or first convulsive status epilepticus with fever or following vaccination, in the absence of another cause, should undergo genetic testing for DS. Panelists agreed on evolution of specific comorbidities with time, but less agreement was achieved on optimal management. There was also agreement on appropriate first- to third-line maintenance therapies, which included the newly approved agents. Whereas there was agreement for recommendation of disease-modifying therapies, if they are proven safe and efficacious for seizures and/or reduction of comorbidities, there was less consensus for when these should be started, with caregivers being more conservative than physicians.This International DS Consensus, informed by both experienced global caregiver and physician voices, provides a strong overview of the impact of DS, therapeutic goals and optimal management strategies incorporating the recent therapeutic advances in DS, and evolving disease-modifying therapies.

Authors & Co-authors:  Wirrell Elaine C EC Hood Veronica V Knupp Kelly G KG Meskis Mary Anne MA Nabbout Rima R Scheffer Ingrid E IE Wilmshurst Jo J Sullivan Joseph J

Study Outcome 

Source Link: Visit source

Statistics
Citations :  Cetica V, Chiari S, Mei D, Parrini E, Grisotto L, Marini C, et al. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations. Neurology. 2017;88:1037–44.
Authors :  8
Identifiers
Doi : 10.1111/epi.17274
SSN : 1528-1167
Study Population
Male,Female
Mesh Terms
Consensus
Other Terms
SCN1A;cannabidiol;developmental and epileptic encephalopathy;disease-modifying treatment;fenfluramine;stiripentol
Study Design
Cross Sectional Study
Study Approach
Country of Study
Publication Country
United States