RESUMEN
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.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Carbamazepina/análogos & derivados , Carbamazepina/uso terapéutico , Epilepsias Mioclónicas/tratamiento farmacológico , Síndrome de Abstinencia a Sustancias , Bloqueadores del Canal de Sodio Activado por Voltaje/uso terapéutico , Adulto , Anticonvulsivantes/efectos adversos , Carbamazepina/efectos adversos , Epilepsias Mioclónicas/genética , Epilepsias Mioclónicas/mortalidad , Femenino , Humanos , Pacientes Internos , Masculino , Persona de Mediana Edad , Canal de Sodio Activado por Voltaje NAV1.1/genética , Oxcarbazepina , Estudios Retrospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/genética , Convulsiones/mortalidad , Centros de Atención Terciaria , Bloqueadores del Canal de Sodio Activado por Voltaje/efectos adversos , Adulto JovenRESUMEN
OBJECTIVES: A study was performed to investigate automatic detection of muscle artefact, using time domain and frequency domain methods. The evaluation focussed on epoch length and performance of detection. METHODS: EEG data were recorded in 21 normal adult subjects for 50 min during awake state. Investigated positions included central, temporal and parietal scalp electrodes. Expert annotation of muscle artefact was performed by accurate visual marking in a randomised test-set of the data, which allowed for intra-expert comparison. For time domain detection, the parameter set consisted of slope and maximum/minimum amplitude. Parameters in the frequency domain were absolute and relative 'high beta' power (>25 Hz) and spectral edge frequency. Distributions as calculated from a reference period in each subject were used to investigate the statistics of the parameter ranges. Detection thresholds were calculated from these distributions per subject, and performance was compared to constant (empirical) thresholds for the entire data set. RESULTS: Results indicate a 1 s epoch length as optimal for detection of muscle artefact. The analysis using a slope threshold or absolute 'high beta' power showed the best results in sensitivity (80%) and specificity (90%), matching the expert's performance. CONCLUSIONS: Constant threshold settings performed better than statistical thresholds per subject.