RESUMO A morte súbita nas epilepsias (SUDEP) é a causa mais comum de morte em indivíduos com epilepsia refratária. Provavelmente, o controle das crises epilépticas irá evitar algumas dessas mortes. Resumidamente, nós descrevemos nesse artigo alguns dados sobre a epidemiologia, fatores de risco, etiologia e medidas preventivas na SUDEP.

ABSTRACT Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in people with intractable epilepsy. Probably, optimization of seizure control will prevent some of these deaths. Briefly, we integrated in this paper some data about the epidemiology, risk factors, etiology, and preventative measures in the management of SUDEP.

É extremamente difícil estimar a ocorrência de morte súbita em epilepsia (SUDEP). Por outro lado, detectar e avaliar cuidadosamente novos factores de risco que podem contribuir para o aparecimento de alterações cardiovasculares em pessoas com epilepsia refratária poderá ser capaz de impedir a ocorrência de eventos fatais nestes indivíduos. Neste contexto, não devemos negligenciar hoje que a poluição do ar nas grandes cidades é um problema para a saúde ambiental, podendo causar graves disfunções cardiovasculares, que culminam em morte súbita. Neste sentido, propusemos nesse trabalho que a exposição ambiental a poluição do ar é um evento agravante para a ocorrência de SUDEP.

It is extremely difficult to estimate the occurrence of sudden unexpected death in epilepsy (SUDEP). On the other hand, discovering and carefully evaluating new risk factors that may contribute to the onset of cardiovascular abnormalities in people with refractory epilepsy may prevent fatal events in these individuals. In this context, we should not ignore that urban air pollution is a leading problem for environmental health and is able to cause serious cardiovascular dysfunctions that culminate in sudden death. In this regard, we aimed to determine whether environmental exposure to air pollution is an aggravating event for SUDEP.

Está claro que a morte súbita e inesperada em epilepsias (SUDEP) é principalmente um problema para as pessoas com epilepsia refratária, mas o entendimento para estabelecer medidas preventivas ainda está incompleto. Embora os tratamentos farmacológicos disponíveis para epilepsias tenham sido expandidos, algumas drogas antiepilépticas ainda são limitadas em termos de eficácia clínica. No presente trabalho, foi descrita uma experiência com a estimulação do nervo vago (VNS), abrindo espaço e fornecendo a oportunidade de implementar eficazes mapas preventivoss para reduzir a incidência da SUDEP em crianças e adolescentes com epilepsia refratária.

It is clear that sudden unexpected death in epilepsy (SUDEP) is mainly a problem for people with refractory epilepsy, but our understanding of the best way to its prevention is still incomplete. Although the pharmacological treatments available for epilepsies have expanded, some antiepileptic drugs are still limited in clinical efficacy. In the present paper, we described an experience with vagus nerve stimulation (VNS) treatment by opening space and providing the opportunity to implement effective preventative maps to reduce the incidence of SUDEP in children and adolescents with refractory epilepsy.

As epilepsias encontram-se entre as mais sérias doenças neurológicas; 20 a 30% dos pacientes com epilepsia continuam apresentando crises e são refratários as terapias disponíveis atualmente. Aproximadamente um em cada 1000 pacientes com epilepsia crônica irá morrer de forma súbita, não esperada e sem explicação, mesmo com o exame pós-morte. Este fenômeno é denominado morte súbita e inesperada em epilepsia (SUDEP). Compreender os mecanismos envolvidos nos casos de SUDEP pode levar à identificação de fatores ainda não reconhecidos e passíveis de serem corrigidos. Discutiremos a seguir as possíveis implicações do consumo do ácido graxo ômega-3 na prevenção dos casos de SUDEP.

The epilepsies are one of the most common serious brain disorders and 20 to 30% of people developing epilepsy continue to have seizures and are refractory to treatment with the currently available therapies. Approximately one in a 1000 patients with chronic epilepsy will die suddenly, unexpectedly, and without explanation, even with post-mortem examination and this phenomenon is called sudden unexplained death in epilepsy (SUDEP). Understanding the mechanisms underlying SUDEP may lead to the identification of previously unrecognized risk factors that are more amenable to correction. We discuss here the possible implications of omega-3 fatty acids consumption on SUDEP prevention.

Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Intellectual disability is a clinically important disorder for which the etiology and pathogenesis are still poorly understood. Moreover, although tremendous progress has been made, pharmacological intervention is still currently non-existent and therapeutic strategies remain limited. Studies in humans have a very limited capacity to explain basic mechanisms of this condition. In this sense, animal models have been invaluable in intellectual disability investigation. Certainly, a great deal of the knowledge that has improved our understanding of several pathologies has derived from appropriate animal models. Moreover, to improve human health, scientific discoveries must be translated into practical applications. Translational research specifically aims at taking basic scientific discoveries and best practices to benefit the lives of people in our communities. In this context, the challenge that basic science research needs to meet is to make use of a comparative approach to benefit the most from what each animal model can tell us. Intellectual disability results from many different genetic and environmental insults. Taken together, the present review will describe several animal models of potential intellectual disability risk factors.

Patients with schizophrenia have a two- to three-fold increased risk of premature death as compared to patients without this disease. It has been established that patients with schizophrenia are at a high risk of developing cardiovascular disease. Moreover, an important issue that has not yet been explored is a possible existence of a "cerebral" focus that could trigger sudden cardiac death in patients with schizophrenia. Along these lines, several structural and functional alterations in the thalamic complex are evident in patients with schizophrenia and have been correlated with the symptoms manifested by these patients. With regard to abnormalities on the cellular and molecular level, previous studies have shown that schizophrenic patients have fewer neuronal projections from the thalamus to the prefrontal cortex as well as a reduced number of neurons, a reduced volume of either the entire thalamus or its subnuclei, and abnormal glutamate signaling. According to the glutamate hypothesis of schizophrenia, hypofunctional corticostriatal and striatothalamic projections are directly involved in the pathophysiology of the disease. Animal and post-mortem studies have provided a large amount of evidence that links the sudden unexpected death in epilepsy (SUDEP) that occurs in patients with schizophrenia and epilepsy to thalamic changes. Based on the results of these prior studies, it is clear that further research regarding the relationship between the thalamus and sudden cardiac death is of vital importance.

INTRODUÇÃO E OBJETIVOS: A Encefalite de Rasmussen (ER) é caracterizada por epilepsia intratável, hemiparesia progressiva e atrofia hemisférica unilateral. A progressão dos sintomas geralmente ocorre em meses ou poucos anos. As drogas antiepilépticas são usualmente ineficazes no controle da progressão da doença e o tratamento cirúrgico, com desconexão hemisférica tem sido considerado o tratamento de escolha. Neste trabalho descreveremos os achados clínicos e eletrográficos, assim como a evolução pós-operatória de pacientes com ER. PACIENTES E MÉTODOS: foram incluídos todos os pacientes com ER avaliados no período de janeiro de 1995 a janeiro de 2008, no Centro de Cirurgia de Epilepsia de Ribeirão Preto (CIREP), sendo considerados os dados demográficos, os achados do eletrencefalograma (EEG) interictal e ictal, resultado anatomo-patológico e o seguimento clínico. RESULTADOS: Vinte e cinco pacientes foram avaliados, 13 eram do sexo feminino. A idade média de início da epilepsia foi de 4.4±2.0 anos. Não houve diferenças significativas entre os pacientes com evolução lenta ou rápida considerando-se a idade de início da epilepsia (p=0,79), idade da cirurgia (p=0,24), duração da epilepsia (p=0,06) e tempo de seguimento (p=0,40). Não houve correlação entre a presença de alterações bilaterais ou ausência de descargas ao EEG e o seguimento pós-operatório (p=0,06). Vinte e três pacientes foram submetidos à cirurgia. O tempo médio de seguimento foi de 75,3 meses. Onze pacientes evoluíram com controle total das crises. Doze pacientes permaneceram com crises que consistiram de clonias faciais sutis (6 pacientes), crises tônico-clônicas hemigeneralizadas ocasionais (3 pacientes) ou crises tônico-clônicas frequentes (3 pacientes). Alterações cognitivas e de linguagem foram observadas em 15 e 12 pacientes após a cirurgia, respectivamente. CONCLUSÕES: este estudo retrospectivo relatou os achados clínicos, eletrográficos e a evolução de 23 pacientes. Controle satisfatório das crises foi obtido em 14 pacientes. Três pacientes tiveram resposta parcial com a cirurgia e cinco pacientes mantiveram o quadro pré-operatório. Todos os pacientes com envolvimento do hemisfério cerebral esquerdo evoluíram com distúrbio de linguagem e cognitivo.

BACKGROUND AND PURPOSE: Rasmussen Encephalitis (RE) is characterized by intractable epilepsy, progressive hemiparesis and unilateral hemispheric atrophy. The progression of the symptoms usually occurs within months to few years. Antiepileptic drugs are usually not effective to control disease progression and epilepsy surgery in the form of hemispheric disconnection has been considered the treatment of choice. This work describes the clinical and electrographic analyses, as well as the post-operative evolution of patients with RE. PATIENTS AND METHODS: This work includes all the patients with RE evaluated from January 1995 to January 2008 by the Ribeirão Preto Epilepsy Surgery Program (CIREP) considering demographic data, interictal and ictal electroencephalographic (EEG) findings; anatomo-pathological findings and clinical outcome. RESULTS: Twenty-five patients were evaluated, thirteen were female. Mean age of epilepsy onset was 4.4±2.0 years. There were no differences between patients with slow and fast evolution with respect to age of epilepsy onset (p=0.79), age at surgery (p=0.24), duration of epilepsy (0.06), and follow-up (p=0.40). There were no correlations between the presence of bilateral EEG abnormalities or the absence of spikes and post-operative seizure outcome (p=0.06). Twenty-three patients underwent surgery. The mean follow-up was 75.3 months. Eleven patients had total seizure control. Twelve individuals persisted with seizures consisting of mild facial jerks (6 patients), occasional hemigeneralized tonic-clonic seizures (3 patients), and frequent tonic-clonic seizures (3 patients). Mental and language impairment was observed in 15 and 12 patients, after surgery, respectively. CONCLUSIONS: This retrospective study reported the clinical and electrographic analysis, as well as the evolution of 23 patients with RE. Fourteen patients achieved satisfactory seizure control, three patients had partial response to surgery, and five patients had maintenance of the pre-operative condition. All patients with left side involvement presented with some language and cognitive disturbance.

Utilizando o modelo de epilepsia induzido pela pilocarpina, investigamos os efeitos do consumo de álcool sobre a frequência de crises epilépticas em animais com epilepsia, como também uma possível associação entre a ingestão de álcool e ocorrência de morte súbita e inesperada nas epilepsias (SUDEP). Os animais foram randomicamente divididos em dois grupos: (A) ratos com epilepsia e (B) ratos com epilepsia que receberam uma dose diária de etanol (350 mg kg-1, i.p.) por 30 dias consecutivos. A frequência basal de crises epilépticas observadas nos grupos A e B durante os primeiros 30 dias foram de 3,4±1,5 e 3,2±1,9 crises por semana/animal, respectivamente. No grupo B, ocorreu aumento significativo na frequência de crises (11,6±5,3) durante as duas primeiras semanas de administração do álcool e de forma interessante, um animal morreu subitamente após uma crise generalizada tônico-clonica durante esse período. Concluímos em nossa abordagem experimental que existe uma possível associação entre o consumo de álcool e a ocorrência de SUDEP.

Using the pilocarpine model of epilepsy, we investigated the effects of alcohol consumption on the frequency of seizures in animals with epilepsy as well the underlying a possible association between alcohol intake and sudden unexpected death in epilepsy (SUDEP) occurrence. Rats were divided randomly into two groups: (A) rats with epilepsy and (B) rats with epilepsy that received a daily dose of ethanol solution (350 mg kg-1, i.p.) for 30 days. The basal frequency of seizures observed in the A and B groups during the first 30 days were 3.4±1.5 and 3.2±1.9 seizures per week per animal, respectively. In B group, it was observed a significant seizure increase (11.6±5.3) during the first 2 weeks of alcohol administration and quite interesting, one rat died suddenly after a generalized tonic-clonic seizure during this period. We concluded in our experimental study that exist a possible association between alcohol abuse and SUDEP occurrence.