RESUMO
PURPOSE: In newly diagnosed patients with Dravet syndrome sodium channel blockers are usually avoided. However, in many adult patients the diagnosis was made long after the initiation of therapy. The purpose of our study was to acquire information concerning the potential risks and benefits of (ox)carba(ma)zepine withdrawal in adult patients with genetically confirmed Dravet syndrome. METHOD: We identified 16 adults with Dravet syndrome, living in a tertiary care facility for people with epilepsy and an intellectual disability. We reviewed clinical history, genetic findings, the type and duration of sodium channels blockers that were used, seizure types and frequency, and the effect of a change in these medications. RESULTS: The study population consisted of 9 men and 7 women. Median age was 35 years (range 20-61 years). An attempt to withdraw carbamazepine (CBZ) was made in 9 patients. In 3 of these patients an increase in tonic-clonic seizures was observed. An attempt to withdraw oxcarbazepine (OXC) was made in 3 patients, leading to a complete stop in 2 patients. 3 of the 4 deaths in the withdrawal-group were related to epilepsy. CONCLUSION: In adult patients with Dravet syndrome withdrawal of CBZ or OXC is not without risks. We suggest that (ox)carba(ma)zepine withdrawal should be considered in these patients but only if there is a good reason to do so and only if they are closely monitored.
Assuntos
Anticonvulsivantes/uso terapêutico , Carbamazepina/análogos & derivados , Carbamazepina/uso terapêutico , Epilepsias Mioclônicas/tratamento farmacológico , Síndrome de Abstinência a Substâncias , Bloqueadores do Canal de Sódio Disparado por Voltagem/uso terapêutico , Adulto , Anticonvulsivantes/efeitos adversos , Carbamazepina/efeitos adversos , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/mortalidade , Feminino , Humanos , Pacientes Internados , Masculino , Pessoa de Meia-Idade , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Oxcarbazepina , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Convulsões/genética , Convulsões/mortalidade , Centros de Atenção Terciária , Bloqueadores do Canal de Sódio Disparado por Voltagem/efeitos adversos , Adulto JovemRESUMO
BACKGROUND: Epilepsy has a pervasive impact on the lives of people with intellectual disability and their carers. The delivery of high-quality care is impacted on by the complexity and diversity of epilepsy in this population. This article presents the results of a consensus clinical guideline process. RESULTS: A Delphi process identified a list of priority areas for the development of evidence-based guidelines. All guidelines were graded and consensus on scoring was achieved across the guideline group. CONCLUSION: There is a dearth of high-quality evidence from well-constructed studies on which to base guidance. However, the development of internationally derived consensus guidelines may further support the management of epilepsy in adults with an intellectual disability.
