Epilepsias generalizadas idiopáticas / Idiopathic generalized epilepsies

Resumen Las epilepsias generalizadas idiopáticas (EGI) son un grupo de epilepsias generalizadas edad de pendientes, subgrupo de las Epilepsias genéticas generalizadas(EGG), con hallazgos electro-clínicos característicos y herencia poligénica. Las EGI inclu yen las cuatro epilepsias generalizadas clásicas más comunes de las EGG: la epilepsia de ausencias de la infancia (EAI), epilepsia de ausencias juveniles (EAJ), epilepsia mioclónica juvenil (EMJ) y la epilepsia con crisis tónico clónicas generalizadas. Clínicamente caracterizadas por la presencia de una o una com binación de crisis de ausencias, mioclonías, tónica-clónicas omioclónica-tónica-clónicas con patrón elec troencefalográfico de punta onda lenta de 2.5 a 6cps y activación con la hiperventilación y fotoestimula ción, Sobresalen de las EGG por compartir atributos particulares como el buen pronóstico con control frecuente de las crisis, la no evolución a encefalopa tías epilépticas, frecuente superposición clínica entre las tres primeras, pudiendo evolucionar entre ellas; la probabilidad y edad de remisión varía en cada una.Más del 80% se controlan adecuadamente con medicamentos anticrisis de amplio espectro como el ácido valproico y pueden empeorar con bloqueadores de sodio o gabaérgicos. Si bien los pacientes son previamente sanos con neurodesarrollo normal, frecuentemente se asocian con trastornos del ánimo, déficit de atención e hiperactividad (TDAH) y problemas del aprendizaje pero no presentan déficit cognitivo. El reconocimiento de este grupo de EGI es importan te para el uso adecuado del recurso, evitando estudios innecesarios, adecuada orientación del pronóstico y un tratamiento óptimo.

Abstract Idiopathic generalized epilepsies (IGE) is a group of epilepsies age-dependent, a subgroup of EGG genetic generalized epilepsies, with electro-clinical features and polygenic inheritance. Four syndromes comprising the IGEs: childhood absence epilepsy (CAD), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures epilepsy. Clinically characterized by the presence of one or a combination of absence seizures, myoclonus, tonic-clonic, or myoclonic-tonic-clonic with common electroencephalographic pat terns of 2.5-5.5 Hz generalized spike-wave and activated by hyperventilation or photic stimulation. They generally have a good prognosis for seizure control, not evolve to an epileptic encephalopathy. Frequent clinical overlap between the first three, being able to evolve between them; the probability and age of remission varies in each one. About 80% responding to broad-spectrum anti-seizure drugs such as valproic acid, may worsen with sodium or GABAergic blockers. Development is typically normal; however, they are frequently associated with mood disorders, attention-deficit/hyperactivity disorder (ADHD), and learning dis abilities, but do not have cognitive deficits. The recognition of this group of EGI is important for the adequate use of the resources, avoiding unnecessary studies, adequate orientation of the prognosis and an optimal treatment.

Progress of genetic research in the spectrum of idiopathic rolandic epilepsy syndromes / 中华神经科杂志

The spectrum of idiopathic rolandic epilepsy syndromes (IRES) is a concept proposed by Scheffer and other scientists,based on plenty of researches and followed by the classification of International League Against Epilepsy.This spectrum is characterized by centrotemporal spikes and includes several syndromes,such as benign epilepsy of childhood with centrotemporal spikes,atypical benign partial epilepsy,Landau-Kleffner syndrome,continuous spikes and waves during sleep,autosomal dominant Rolandic epilepsy and speech dyspraxia.The spectrum has obvious genetic predisposition and the main modes of inheritance are autosomal dominant inheritance and polygenic inheritance.The exact inheritance mechanism needs further study.Several genes,such as elongation protein 4,recombinant glutamate receptor,ionotropic,N-methyl-D-aspartate 2A,γ-aminobutyric acid A receptor,potassium channel,voltage-gated,KQT-like subfamily,member 2/3,brain-derived neurotrophic factor,DEP domaincontaining 5,RNA binding protein fox-1 homolog 1/3 gene and a variety of copy number variations are related to the spectrum.In this review,we summarize the genetics,clinical and electrophysiological characteristics of the spectrum,to comprehensively understand the IRES spectrum and to provide support for clinical diagnosis and treatment.

Tratamiento con medicamentos antiepilépticos en el niño / Antiepileptic drug treatment for children

El objetivo de este trabajo es realizar una revisión de la literatura sobre el tratamiento con medicamentos antiepilépticos en el niño. Un aspecto importante en el tratamiento de la epilepsia es disminuir o lograr la cesación de las crisis epilépticas para garantizar una calidad de vida adecuada. Existen varios factores que se deben considerar en el momento de seleccionar el primer medicamento antiepiléptico, entre los se encuentran la eficacia relativa, la tolerabilidad, las interacciones medicamentosas y seguridad a largo plazo del fármaco seleccionado, el tipo de crisis epiléptica, el síndrome epiléptico, la edad, el sexo, el peso, las comorbilidades asociadas, entre otros. Si se decide emplear tratamiento adjunto, deben combinarse medicamentos con diferentes mecanismos de acción. Todos los antiepilépticos clásicos o de primera generación son medicamentos eficaces que continúan desempeñando un papel importante en el tratamiento actual de la epilepsia. Estos fármacos en la actualidad se emplean en el tratamiento de primera opción para muchos tipos de crisis epilépticas o síndromes epilépticos. Son pocos los medicamentos antiepilépticos de segunda generación que en la actualidad se consideran de primera elección para el tratamiento de la epilepsia en el niño

The objective of this paper was to make a literature review on the antiepileptic drug treatment for children. An important aspect of this type of treatment is to reduce or to cease epileptic crises in order to assure better quality of life. There are several factors that should be considered at the time of selecting the first antiepileptic drug such as relative efficacy, tolerability, drug interactions and long-term safety of the selected drug, type of seizure, epileptic syndrome, age, sex, weight, associated comorbidities and others. If one decides to use a combined treatment, then drugs having various mechanisms of action must be selected. The first-generation or classical antiepileptic drugs are all effective and continue playing an important role in the present treatment of epilepsy. These drugs are currently used as treatment of choice for many types of seizures or epileptic syndromes. Few second generation antiepileptic drugs are considered at present to be the first choice for the treatment of epilepsy in the child

Experiencia en el uso del video-electroencefalograma en el servicio de neurofisiología clínica / Experience in using video-electroencephalogram for clinical neurophysiology service

Objetivo: mostrar los resultados de la introducción del video-electroencefalograma en la evaluación de los eventos paroxísticos neurológicos de naturaleza no precisada y/o en la epilepsia de difícil control en pacientes pediátricos. Métodos: se estudiaron 121 niños (edad 5,90 ± 4,34 años), divididos en 4 grupos atendiendo a la finalidad del estudio de video-electroencefalograma: I. Determinar la naturaleza (epiléptica o no) del evento paroxístico; II. Confirmar el síndrome epiléptico; III. Cuantificar las crisis epilépticas y IV. Estudiar candidatos para cirugía de la epilepsia. Resultados: la eficacia diagnóstica fue de un 86,77 %, y provocó modificaciones en el diagnóstico y/o el tratamiento inicial en un 32,38 %. Las modificaciones en el diagnóstico en el grupo I fueron en 16/43 pacientes (2 epilepsias, 7 trastornos del movimiento, 4 trastornos del sueño y 3 crisis psicógenas). En el grupo II se clasificaron 47 síndromes epilépticos (11 epilepsias focales, 31 epilepsias generalizadas y 5 indeterminadas). Para el grupo III el número de crisis registradas fue 7,31 ± 4,21, y el tiempo de registro del video-electroencefalograma fue de 3,86 ± 1,10 horas. En el grupo IV se estudiaron 2 pacientes, y se confirmaron como candidatos para hemisferectomía funcional. Conclusiones: el monitoreo por video-electroencefalograma ratificó ser una herramienta de gran valor y utilidad en el diagnóstico de los eventos paroxísticos neurológicos en niños, lo que incide en establecer una adecuada conducta terapéutica y contribuye a disminuir ciertas limitaciones en la aplicación de los criterios de la Liga Internacional contra la Epilepsia.

Objective: to show the results of the use of video electroencephalogram in the evaluation of undetermined neurological paroxysmal events and/or difficult epilepsy in pediatric patients. Methods: one hundred and 21 children (aged 5.90 ± 4.34 years), divided into 4 groups according to the objective of the video-EEG based study, were researched on. This study was aimed at 1) determining the nature of the paroxysmal event -either epileptic or not-; 2) confirming the epileptic syndrome; 3) quantifying the epileptic attacks; and 4) studying candidates for epilepsy surgery. Results: the diagnostic efficacy was 86.77 % and caused changes in diagnosis and/or in the initial treatment in 32.38 % of cases. Changes in diagnosis of group I occurred in 16 out of 43 patients (2 epilepsies, 7 movement disorders, 4 sleeping disorders and 3 psychogenic crises). Forty seven epileptic syndromes were classified in the second group (11 focal epilepsy, 31 generalized epilepsy and 5 undetermined). The number of recorded crises was 7.31 ± 4.21 in the third group and the video-EEG recording time was 3.6±1.10 hours. Two patients in the fifth group were studied and confirmed as candidates for functional hemispherectomy. Conclusions: video-electroencephalogram monitoring ratified that it is a very useful tool in the diagnosis of neurological paroxysmal events in children, which influences in setting a proper therapeutic behaviour and in assisting in the reduction of certain restrictions for the application of the International League against Epilepsy criteria.

Incidência de epilepsia e distúrbios convulsivos na infância e sua associação com determinantes sociais: um estudo de coorte de nascimento / Incidence of epilepsy and seizure disorders in childhood and association with social determinants: a birth cohort study

OBJETIVO: Investigar a incidência e prevalência de epilepsia e distúrbios convulsivos na infância e sua relação com os determinantes sociais escolhidos. MÉTODOS: Estudo de coorte de nascimento de base populacional, com crianças nascidas entre 1/01 e 31/12/2003 na cidade de Passo Fundo (RS). Os dados foram coletados prospectivamente em duas etapas. Na primeira, foi aplicado o Questionário de Rastreamento Neurológico para Epilepsia (QRN-E) durante uma visita à casa das crianças, juntamente com a avaliação dos determinantes sociais da saúde. Foram analisados construtos de posição social (classe econômica, escolaridade, estado civil e ocupação da mãe), fatores biológicos e comportamentais (consumo de álcool, tabaco e medicamentos na gravidez, e consultas pré-natais) e fatores psicológicos (participação em cerimônias religiosas). Na segunda etapa, as crianças cujos QRN-E apresentaram resultado positivo foram submetidas a avaliação neuroclínica para confirmação do diagnóstico. RESULTADOS: Foram identificados 11 casos de epilepsia, 27 de convulsões febris, 10 de convulsões neonatais, 8 de crise única, além de 26 pacientes com eventos paroxísticos não epilépticos. A incidência de epilepsia foi de 7/100.000 crianças, e a prevalência de 65,2/10.000 crianças. Nove crianças apresentaram epilepsia ativa, resultando em uma prevalência pontual de 53,3/10.000 crianças. Após análise multivariada, nenhum determinante social esteve significativamente relacionado à epilepsia. CONCLUSÕES: Neste estudo, foi relatada uma baixa incidência de epilepsia, em contraste com a incidência de convulsões febris e eventos paroxísticos não epilépticos, que foi quase duas vezes maior. Além disso, a realização de um diagnóstico preciso de epilepsia ainda é um desafio nos países em desenvolvimento, a fim de se evitarem diagnósticos incorretos.

OBJECTIVE: To investigate the incidence and prevalence of epilepsy and seizure disorders during childhood, and their relationship to selected social determinants. METHODS: Population-based birth cohort study, with children born between January 1st and December 31st, 2003 in the city of Passo Fundo (RS), Brazil. Data was prospectively collected in two stages. In the first one, the Questionnaire of Neurologic Tracking for Epilepsy (QNT-E) was applied at the children’s homes, together with the assessment of social determinants of health. Constructs of social position (economical class, mother’s educational level, marital status and occupation), biological and behavioral factors (alcohol and tobacco consumption during pregnancy, number of prenatal appointments, and use of medicines during pregnancy), and psychosocial factors (religious meetings attendance) were analyzed. In the second stage, children with a positive QNT-E were submitted to neuroclinical assessment for diagnostic confirmation. RESULTS: Eleven cases of epilepsy, 27 of febrile seizures, 10 of neonatal seizures, 8 of single seizures, besides 26 patients with non-epileptic paroxysmal events, were identified. The incidence rate of epilepsy was 7/100,000 children and the prevalence 65.2/10,000 children. Nine children had active epilepsy, giving a point prevalence of 53.3/10,000 children. After multivariate analysis, no social determinants could be significantly related to epilepsy. CONCLUSIONS: In this study, a low incidence rate of epilepsy was reported in contrast to almost a double incidence of febrile seizures and non-epileptic paroxysmal events. Moreover, the achievement of an accurate diagnosis of epilepsy in developing countries is still a challenge, in order to avoid misdiagnosis.

Epilepsia: nueva clasificación (ILAE 2001): Estudio comparativo con ILAE 1981 y 1989 / New classification of epilepsies (ILAE 2001): A comparative studio of the 1981 and 1989 ILAE classifications

La Liga Internacional Contra la Epilepsia propuso una nueva clasificación de la epilepsia en el año 2001, soportada en cinco ejes que reflejan los hallazgos hasta ahora conocidos. Se informan los resultados de su aplicación en los pacientes que acuden a consulta de neurología del Hospital de San José de Bogotá D.C. Se trata de un estudio observacional descriptivo prospectivo. Fueron incluidos 95 casos, observando la mayor frecuencia de presentación de la primera crisis en el rango de 10 a 20 años, de los cuales 98,9% se presentaron con epilepsia activa. La coincidencia entre la semiología ictal (eje 1) y el tipo de crisis (eje 2) fue del 87,4%. El síndrome epiléptico (eje 3) fue parcial en 31,6% y generalizado en 64,2% de los casos. La etiología (eje 4) más identificada correspondió a anomalías cromosómicas en 29,5% y no se reconoció en 41,1%. Al evaluar el grado de afectación del sujeto (eje 5) con el cuestionario QOLIE-31, su aplicación permitió cuantificar la calidad de vida y consideramos que su uso permitiría optimizar el manejo de los enfermos. En general la mayoría pudieron ser categorizados con esta propuesta de clasificación en forma similar a cuando se aplicaron las dos clasificaciones previas ILAE 1981 y 1989.

The new classification of epilepsies proposed by the International League Against Epilepsy [ILAE] in 2001 is supported on five axis which reflect the findings known to date. This paper reports the results obtained when applied at the Neurology Clinic at the San José Hospital in Bogotá D.C. Ninety-five patients were enrolled in this descriptive observational prospectivestudy. The first seizure was most commonly observed in the age range 10 to 20 years of which 98.9% presented with active epilepsy. An inter-axial accordance of 87.4% between ictal phenomenology (axis 1) and seizure type (axis 2) was identified. The epileptic syndrome (axis 3) was partial in 31.6% and generalized in 64.2%. The most common etiology (axis 4) corresponds to chromosomal abnormalities in 29.5% and was nonspecific in 41.1%. When assessing the degree of impairment caused by the epileptic condition (axis 5), health-related quality of life could be surveyed by applying the QOLIE-31 questionnaire, and we considered this would favor an optimized management of the patients. Overall, most patients could be categorized with this type of classification similarly to when the two previous classifications (ILAE 1981and 1989) were applied.

Management of Refractory Epilepsy

Management of drug resistant epilepsy (DRE) requires a systematic approach consisting of (1) investigation of potential causes of DRE, (2) determination of the degree of DRE on the basis of previous drug therapy, (3) rational pharmacotherapy consisting of both monotherapy and combination therapy, and (4) referral to surgery or other alternative therapy. The scheme of rational pharmacotherapy consists of (1) first drug monotherapy (2) second drug monotherapy, (3) two drug combination therapy, (4) triple drug combination therapy, and (5) addition of second-line drug. With the introduction of many new antiepileptic drugs (AEDs) having different mechanisms of action, the combination therapy has become more effective and safer, which made the use of triple drug combination therapy feasible in practice if it includes at least one new AED. It should be acknowleged that the rational combination therapy may achieve a seizure free outcome in a significant proportion of patients with less severe DRE. For patients with surgically remediable epileptic syndromes, a systematic trial of two to three drugs may suffice an earlier referral to surgery.