ABSTRACT
INTRODUCTION: Dravet syndrome (DS) is a rare, drug resistant epilepsy that starts very early in life with febrile seizures followed by cognitive impairment and diverse seizure types. AIM: To generate evidence on the epidemiology of DS, its diagnosis, patient-flow, treatment and unmet needs from the perspective of Spanish experts. DEVELOPMENT: A two-round Delphi study involving 19 physicians was conducted. Questionnaires were based on literature review and validated by clinical experts. Consensus was reached when topics were subject to routine clinical practice and individual experience, or the coefficient of variation among answers was <= 0.3. The estimated number of new DS patients is 73 per year. Prevalence is estimated to be between 348-540 patients. DS is mostly diagnosed in children. Survival varies from 5 to 60 years. There is no standardised follow-up of patients beyond the age of 18 and mortality rates are uncertain. No standard guidelines exist for diagnosing or treating DS. It takes 9 to 15 months to confirm the diagnosis and genetic testing is unevenly available. Valproic acid, clobazam, stiripentol and topiramate are commonly used. Poor efficacy and safety are the main reasons for treatment switch. CONCLUSIONS: The epidemiology of DS in Spain is not well known and several areas of unmet needs still exist. Experts' views offer a starting point for further research into the reality of DS in Spain. Epidemiological studies, consensus criteria, easy access to genetic testing, treatment options, training and research into quality of life aspects are highly needed.
TITLE: Determinacion de la epidemiologia, el flujo de pacientes y el tratamiento del sindrome de Dravet en España.Introduccion. El sindrome de Dravet (SD) es una epilepsia rara y resistente a los farmacos que comienza en etapas muy precoces de la vida con convulsiones febriles, seguidas de deterioro cognitivo y diversos tipos de crisis epilepticas. Objetivo. Generar datos objetivos sobre la epidemiologia del SD, su diagnostico, el flujo de pacientes, el tratamiento y las necesidades no cubiertas desde el punto de vista de expertos españoles. Desarrollo. Se efectuo un estudio Delphi de dos rondas en el que participaron 19 medicos. Los cuestionarios se basaron en una revision de la bibliografia y fueron validados por expertos clinicos. Se alcanzo consenso si los temas se referian a la practica clinica habitual y la experiencia individual, o si el coeficiente de variacion entre las respuestas era <= 0,3. El numero estimado de pacientes nuevos con SD es de 73 al año. La prevalencia se calcula entre 348 y 540 pacientes. El SD se diagnostica principalmente en niños. La supervivencia varia entre los 5 y los 60 años. No existe ningun seguimiento normalizado para los pacientes de mas de 18 años de edad, y las tasas de mortalidad son inciertas. No existen guias normalizadas para diagnosticar o tratar el SD. Se tarda de 9 a 15 meses en confirmar el diagnostico, y la disponibilidad de los analisis geneticos es irregular. Normalmente se utilizan el acido valproico, el clobazam, el estiripentol y el topiramato. La escasa eficacia y la seguridad son los motivos principales de los cambios de tratamiento. Conclusiones. La epidemiologia del SD en España es poco conocida, y sigue habiendo necesidades no cubiertas en algunas areas. Las opiniones de expertos suponen un punto de partida para poder investigar la realidad del SD en España. Los estudios epidemiologicos, los criterios de consenso, el acceso facil a las pruebas geneticas, las opciones de tratamiento, la formacion y la investigacion de la calidad de vida relacionada con la salud constituyen todos ellos aspectos muy necesarios.
Subject(s)
Epilepsies, Myoclonic/epidemiology , Adult , Age of Onset , Anticonvulsants/therapeutic use , Child , Child, Preschool , Consensus , Continuity of Patient Care , Delphi Technique , Disease Management , Disease Progression , Drug Resistance , Epilepsies, Myoclonic/drug therapy , Epilepsies, Myoclonic/genetics , Humans , Infant , Prevalence , Referral and Consultation , Spain/epidemiology , Sudden Infant Death/etiologyABSTRACT
INTRODUCTION: Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis. Most of the patients present with severe developmental retardation, microcephaly, abnormal eye movements, pyramidal tract signs, and prominent dystonic movements. An elevated level of interferon-alpha in the CSF is a constant feature, particularly during the first stages of the disease course. One locus has been mapped on chromosome 3p21 in about half of the families so far studied. PATIENTS: and results. We report two new French cases and discuss the limits of the clinical syndrome, the differential diagnosis and issues raised by the pathophysiological mechanisms involved. The major concern is to separate this condition from intrauterine infections because of the genetic and therapeutic consequences. A number of other questions remain unanswered. For example, we still do not know today at what age the absence of features like CSF lymphocytosis, and possibly absence of calcifications, rules out the diagnosis of the condition. The origin of the vasculitis lesions is not known, but seems to be related to dysregulation of interferon production and secretion. CONCLUSION: Currently about 75 patients have been reported, even though many more probably exist. The study of this syndrome can contribute to the understanding of some mechanisms of CNS calcification and in a broader perspective to that of chronic encephalopathies with dysregulation of immune mechanisms.
