Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations from A North American Consensus Panel

Publication date: Available online 4 February 2017
Source:Pediatric Neurology
Author(s): Elaine C. Wirrell, Linda Laux, Elizabeth Donner, Nathalie Jette, Kelly Knupp, Mary Anne Meskis, Ian Miller, Joseph Sullivan, Michelle Welborn, Anne T. Berg
ObjectivesTo establish standards for early, cost-effective and accurate diagnosis, optimal therapies for seizures, and recommendations for evaluation and management of comorbidities for children and adults with Dravet syndrome, using a modified Delphi process.MethodsAn Expert Panel was convened comprised of epileptologists with nationally recognized expertise in Dravet syndrome and parents of children with Dravet syndrome, whose experience and understanding was enhanced by their active roles in Dravet syndrome associations. Panelists were asked to base their responses to questions both on their clinical expertise as well as results of a literature review which was forwarded to each panelist. Three rounds of on-line questionnaires were conducted to identify areas of consensus and strength of that consensus, as well as areas of contention.ResultsThe Panel consisted of 13 physicians and 5 family members. Strong consensus was reached regarding typical clinical presentation of Dravet syndrome, range of EEG and MRI findings, need for genetic testing, critical information which should be conveyed to families at diagnosis, priorities for seizure control and typical degree of control, seizure triggers and recommendations for avoidance, first and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for co-morbidity screening and need for family support. Consensus was not as strong regarding later therapies, including vagus nerve stimulation and callosotomy, and for specific therapies of associated co-morbidities. Beyond initial treatment with benzodiazepines and use of valproate, there was no consensus on the optimal in-hospital management of convulsive status epilepticus.ConclusionsWe were able to identify areas where there was strong consensus that we hope will (a) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (b) support reimbursement from insurance companies for genetic testing and Dravet-specific therapies, and (c) improve quality of life for patients with Dravet syndrome and their families by avoidance of unnecessary testing and provision of an early accurate diagnosis allowing optimal selection of therapeutic strategies.



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