Análisis de causas atribuidas a "BRUE" entre los años 2017 a 2020 / Analysis of etiologies attributed to "BRUE" between the years 2017 to 2020

El término BRUE describe un evento en un lactante menor, repentino, breve, ya resuelto y sólo aplica cuando no existe una explicación para este episodio. Es escasa la literatura nacional e internacional sobre el estudio etiológico en BRUE. Objetivos: Caracterizar lactantes con episodio de BRUE y hacer un análisis etiológico. Métodos: Estudio retrospectivo, descriptivo lactantes hospitalizados por BRUE. Resultados: Se encontraron 50 lactantes con BRUE, la mayoría de ellos presentó un solo evento y ninguno requirió reanimación cardiopulmonar. Las características principales de los eventos fueron apnea, cianosis y tono disminuido. Las etiologías encontradas, más habituales, fueron reflujo gastro-esofágico, infección respiratoria, mala técnica alimentaria y crisis epilépticas. La evaluación clínica fue el principal elemento diagnóstico. Discusión: Nuestro análisis etiológico concuerda con la literatura nacional e internacional. La anamnesis y examen físico son la principal herramienta diagnóstica. Es fundamental contar con guías, adaptadas a la realidad nacional y local, que dirijan el estudio de lactantes con BRUE.

BRUE is an event occurring in an infant when the observer reports a sudden, brief, and now-resolved episode. BRUE is a diagnosis of exclusion and is used only when there is no explanation for the event after conducting an appropriate history and physical examination. There is little literature on the etiological study in BRUE. Objectives: To characterize infants with a BRUE episode and to carry out an etiological analysis. Methods: A retrospective study including infants who have experienced a BRUE between the years 2017 to 2020. Results: 50 infants with BRUE, most of them presented a single event and none required cardiopulmonary resuscitation. The main characteristics of the events were apnea, cyanosis and decreased tone. The most common etiologies found were gastroesophageal reflux, respiratory infection, poor feeding technique, and seizures. History and physical examination are the fundamental diagnostic tools. Discussion: Our etiological analysis agrees with the national and international literature. The clinical evaluation was the main diagnostic tool. It is essential to create local guidelines for the evaluation investigation and management of infants with BRUE.

Forensic Analysis of 9 Cases of Sudden Unexpected Death in Epilepsy / 法医学杂志

OBJECTIVES@#To analyze the case, scene and forensic pathological characteristics of sudden unexpected death in epilepsy (SUDEP), to provide a practical basis for forensic identification.@*METHODS@#A total of 9 autopsy cases of SUDEP were collected. The basic information of the cases, the scene characteristics, the forensic pathological changes, the common drugs and antiepileptic drug test results, and pericardial fluid biochemical test results were analyzed.@*RESULTS@#All of the 9 cases were male epilepsy patients died during sleep at night, the age of death was (37.1±8.6) years, and the course of epilepsy was (21.3±5.6) years. Six corpses were in prone position and three in left lateral position. The hemorrhage of the sternocleidomastoid muscle, sternal thyroid muscle and sternohyoid muscle were found with 8 cases, 5 cases and 4 cases, respectively, all of them were unilateral. Six cases had bilateral hemorrhage of pectoralis minor muscle. Brain edema, phagocytosis of frontotemporal neurons and gliosis, cardiac fibers bend in wavy patterns and eosinophilic staining enhancement, pulmonary edema, pulmonary congestion, alveolar hemorrhage, pulmonary small bronchiole wall shrinking, tubular proteinuria and pancreatic parenchymal hemorrhage were the common histopathological changes. The biochemical test results of pericardial fluid indicated that there were myocardial ischemic damage.@*CONCLUSIONS@#Young male, early onset, long course of disease, sleep in the prone position, poor drug compliance or combination, epileptic seizure may be the risk factors of SUDEP. Cardiac dysfunction and respiratory depression might be the main death mechanism of SUDEP.

At the crossroads of epilepsy and sleep: some issues / Na encruzilhada da epilepsia e do sono: algumas questões

There is a close association between sleep and epilepsy, and this literature review aims to raise issues regarding sleep time control, circadian and ultradian rhythms, epilepsy and its interaction with sleep and circadian rhythm, epilepsy and sleep disorders, and finally epilepsy management and medications. It is mentioned that sleep may provide a hypersynchronous state, as occurs in non-rapid eye movement sleep (NREM), and hyperexcitability, in cyclic alternating pattern (CAP), allowing more frequent interictal epileptiform abnormalities and seizures. In some epilepsy syndromes, seizures occur broadly / or entirely during sleep or on awakening, mainly in childhood, and maybe exacerbated in adults during the sleep or sleep-deprived, and there are the so-called Sleep-related epilepsies that are divided as sleep-associated, sleep-accentuated and arousal/awakening related. Sleep quality may be reduced in patients with epilepsy also due to nocturnal seizures or concomitant sleep disorders. Sleep disorders are common in patients with epilepsy and treatment of them mainly sleep-disordered breathing may improve seizure control. Besides, some parasomnias may mimic seizures, and also they can adversely affect the quality and quantity of sleep whereas antiepileptic therapy can have a negative or positive effect on sleep. Nocturnal epileptic seizures may be challenging to discern from parasomnias, in particular NREM parasomnias such as night terrors, sleepwalking and confusional arousals.

Há uma estreita associação entre sono e epilepsia, e esta revisão de literatura tem como objetivo levantar questões relacionadas ao controle do tempo do sono, ritmos circadianos e ultradianos, epilepsia e sua interação com sono e ritmo circadiano, epilepsia e transtornos do sono e, finalmente, o tratamento e medicamentos para epilepsia. Menciona-se que o sono pode proporcionar um estado hipersincrônico, como ocorre no sono "non-rapid eye movement" (NREM), e hiperexcitabilidade, no "cyclic alternating pattern" (CAP), permitindo anormalidades epileptiformes interictais e crises epilépticas mais frequentes. Em algumas síndromes epilépticas, as crises ocorrem ampla / ou inteiramente durante o sono ou despertar, principalmente na infância, e podem ser exacerbadas em adultos durante o sono ou privação de sono, e as chamadas epilepsias relacionadas ao sono se dividem em sono associadas, sono acentuadas e relacionadas com o despertar. A qualidade do sono pode ser reduzida em pacientes com epilepsia também devido a crises epilépticas noturnas ou transtornos do sono concomitantes. Esses são comuns em pacientes com epilepsia e o seu tratamento, principalmente dos transtornos respiratórios do sono, pode melhorar o controle das crises epilépticas. Além disso, algumas parassonias podem mimetizar crises epilépticas, e também elas podem afetar adversamente a qualidade e a quantidade do sono, enquanto a terapia antiepiléptica pode ter um efeito negativo ou positivo sobre o sono. Pode ser difícil discernir as crises epilépticas noturnas das parassonias, em particular das parassonias NREM, como terrores noturnos, crises de sonambulismo e despertares confusionais.

Insomnia and sleep deprivation in patients with epilepsy: issues about the pathophysiological interaction between them / Insônia e privação de sono em pacientes com epilepsia: questões sobre a interação fisiopatológica entre eles

There is a known relationship between seizures and sleep deprivation that increases epileptiform abnormalities and slow waves expressed in the EEG, but chronic insomnia, greater in patients with epilepsy (PWEs) than in healthy control, supposedly has a different mechanism linked to a hyperarousability state with increased rapid EEG activity and associated "restless REM". Therefore, there is a complex interaction at various levels between insomnia and epilepsy that may play a role in seizure presentation. The recognized interconnection between mood and anxiety disorders and insomnia should also advise special care in the management of psychiatric comorbidities in PWEs. This article raises questions related to the interaction between the brain basis of insomnia and epilepsy and the triggers of seizures, particularly sleep deprivation.

Há uma relação conhecida entre crises epilépticas e privação de sono que aumenta as anormalidades epileptiformes e as ondas lentas expressas no EEG, mas a insônia crônica, maior em pacientes com epilepsia (PCE) do que no controle saudável, supostamente tem um mecanismo diferente ligado a um estado de hiperexcitabilidade com aumento da atividade rápida do EEG e associado "REM inquieto". Consequentemente, existe uma complexa interação em vários níveis entre a insônia e a epilepsia que pode desempenhar um papel na apresentação das crises. A reconhecida interligação entre transtornos de humor e ansiedade com a insônia também deve aconselhar um cuidado especial no manejo das comorbidades psiquiátricas do PCE. Este artigo levanta questões relacionadas à interação entre a base cerebral da insônia e da epilepsia e os desencadeadores de crises epilépticas, principalmente a privação do sono.

Older adults with epilepsy: memory complaints and objective neuropsychological performance / Idosos com epilepsia: queixa de memória e desempenho neuropsicológico objetivo

ABSTRACT Introduction: People with epilepsy frequently complain of poor memory. Objective: To assess the occurrence of memory complaints in older adults with epilepsy (OAE) and whether it is associated with clinical variables, objective cognitive performance, and quality of life (QoL). Methods: The Memory Complaint Questionnaire (MAC-Q) was related to objective cognitive performance, the Neurological Disorders Depression Inventory for Epilepsy (NDDI-E), the Quality of Life in Epilepsy Inventory (QOLIE-31), and the clinical characteristics of 83 OAE. Results: OAE showed worse cognitive performance and higher MAC-Q scores when compared to a similar control group (n=40). Impairment in multiple cognitive domains occurred in 34 (41%) OAE and was associated with older age and lower educational level. Memory complaints (MAC-Q≥25) were reported by 45 (54.2%) OAE and associated with older age, lower educational level, onset at ≥60 years, higher NDDI-E scores, lower QOLIE-31 scores, and impairment in multiple cognitive domains. Conclusions: OAE presented worse cognitive performance and greater memory complaints. Episode onset at ≥60 years of age was associated with complaints, but not with objective cognitive deficit. We found an association between subjective and objective cognitive performance, with aspects of epilepsy and worse QoL scores.

RESUMO Introdução: A queixa de memória fraca é frequente em pessoas com epilepsia. Objetivo: Avaliar a ocorrência de queixas de memória em idosos com epilepsia (IE) e se há associação com variáveis clínicas, desempenho cognitivo objetivo e qualidade de vida (QV). Métodos: O questionário de queixa de memória (memory complaint questionnaire — MAC-Q) foi relacionado ao desempenho cognitivo objetivo, o inventário de depressão de transtornos neurológicos para epilepsia (neurological disorders depression inventory for epilepsy — NDDI-E), o QOLIE-31 e com as características clínicas de 83 IE. Resultados: Houve desempenho cognitivo inferior e maiores escores no MAC-Q em IE quando comparados aos de um grupo controle similar (n=40). Comprometimento de múltiplos domínios cognitivos ocorreu em 34 (41%) IE e associou-se a maior idade e menor escolaridade. Queixas de memória (MAC-Q≥25) foram observadas em 45 (54,2%) IE e associadas a idade mais elevada, menor escolaridade, início das crises aos ≥60 anos, maiores escores no NDDI-E, menores escores no QOLIE-31 e comprometimento de múltiplos domínios cognitivos. Conclusões: Pior desempenho cognitivo e maiores queixa de memória ocorreram em IE. Crises com início aos ≥60 anos foram associadas a queixas, mas não a déficit objetivo cognitivo. Houve associação entre desempenho cognitivo subjetivo e objetivo, com aspectos da epilepsia e pior QV.

Epilepsia no período gravídico-puerperal / Epilepsy in puerperal-pregnancy period

A epilepsia, doença cerebral caracterizada pela predisposição à geração de crises epilépticas, representa a patologia neurológica grave mais frequente na gravidez. Quando não acompanhada corretamente, possui um acentuado nível de morbimortalidade materno-fetal, sendo especialmente relacionada a riscos de convulsão materna na gestação e malformações fetais. Este artigo discute o acompanhamento da gestante epiléptica, trazendo recomendações de cuidados no período pré-concepcional, manejo durante o pré-natal, condução do trabalho de parto, peculiaridades no puerpério e tratamento de crises convulsivas, quando necessário. Serão abordados tanto aspectos de tratamento farmacológico quanto de monitoramento e orientações gerais, com o objetivo de contribuir para um suporte mais abrangente e adequado a esse grupo mais vulnerável de pacientes sob o cuidado do médico ginecologista-obstetra e neurologista.(AU)

Epilepsy, which is a brain disease defined for a greater predisposition for epileptic crisis, represents the most frequent neurological pathology during pregnancy. Without proper monitoring it is related to high morbidity and mortality to both mother and baby, especially due to the risks of mother seizure during pregnancy and fetus malformation. This article discusses about health care giving and follow-up for the epileptic pregnant women, pointing recommendations for preconception care, prenatal management, labor conduct, peculiarities in puerperium and treatment of convulsive crisis when needed. There will be approached pharmacological and non-pharmacological aspects, such as follow up exams and general orientations, having as a goal to contribute to an more abrangent and proper support of this more vulnerable group of patients under the care responsibility of obstetrician-gynecologist ad neurologist doctors.(AU)

Depression is a major determinant of sleep abnormalities in patients with epilepsy / A depressão é um dos principais determinantes das anormalidades do sono em pacientes com epilepsia

ABSTRACT Introduction: We aimed to identify sleep disorders in patients with epilepsy and compare this group with a healthy population. We also analyzed the features of sleep disorders in patients with epilepsy to demonstrate the effect of seizures and seizure types on sleep. Methods: Our study assessed 43 patients with epilepsy and 53 age- and gender-matched healthy controls. The demographic and clinical data of all participants were recorded. The Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index (PSQI), International Restless Legs Syndrome Study Group Rating Scale, Berlin Questionnaire, and Beck Depression Inventory (BDI) were administered to all study subjects. The interview used to evaluate insomnia is based on the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition - DSM-5 diagnostic criteria. Results: Twenty-four patients (55.8%) and 26 controls (49.1%) are women. The mean age of patients and controls was 34.2±11.37 (16-71) and 34.6±11.28 (16-77), respectively. Patients with epilepsy had depression more often than controls, a result that was statistically significant (p<0.0001). We found no statistically significant difference between sleep parameters of patients and controls with normal BDI scores (p>0.05). Patients with depression had worse results on the Berlin Questionnaire and PSQI total score, with statistical significance (p=0.002). Nocturnal seizures, seizure type, and drug treatment had no effect on sleep (p>0.05). Conclusion: We concluded that depression rather than epilepsy negatively affects sleep, suggesting that all patients should be asked about their mood and sleep complaints.

RESUMO Introdução: O objetivo deste estudo foi identificar distúrbios do sono em pacientes com epilepsia e compará-los com uma população saudável. Também foram examinadas as características dos distúrbios do sono em pacientes com epilepsia para demonstrar o efeito e os tipos de convulsões no sono. Métodos: O estudo consistiu em 43 pacientes com epilepsia e 53 controles saudáveis ​​pareados por idade e sexo. Os dados demográficos e clínicos de todos os participantes foram registrados. Todos os participantes do estudo receberam a Escala de Sonolência de Epworth, o Índice de Qualidade do Sono de Pittsburgh (Pittsburch Sleep QUality Index - PSQI), o Questionário do Grupo Internacional de Estudos das Pernas Inquietas, o Questionário de Berlim e o Inventário de Depressão de Beck. A entrevista usada para avaliar a insônia é baseada nos critérios do DSM-V. Resultados: Vinte e quatro pacientes (55,8%) são do sexo feminino e vinte e seis do grupo controle (49,1%) são do sexo feminino. A média de idade dos pacientes e do grupo controle é de 34,2±11,37 (16-71) e 34,6±11,28 (16-77), respectivamente. Pacientes com epilepsia sofrem mais de depressão do que os controles e esse resultado é estatisticamente significativo (p<0,0001). Não houve diferença estatisticamente significativa entre os parâmetros do sono dos pacientes e dos controles que apresentaram escores de Beck normais (p>0,05). Pacientes com depressão apresentam resultados piores no escore total do PSQI de Berlim, o que é estatisticamente significativo (p=0,002). As convulsões noturnas, o tipo de convulsão e o tratamento medicamentoso não afetaram o sono (p>0,05). Conclusão: Determinamos que a depressão, e não a epilepsia, afeta negativamente o sono dos pacientes, sugerindo que todos os pacientes devem ser questionados sobre seu humor e queixas de sono.

Variante patogénica en el gen PCDH19 en una paciente con epilepsia y discapacidad cognitiva / Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability

INTRODUCCIÓN: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. OBJETIVO: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. CASO CLÍNICO: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, "de novo". La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. CONCLUSIONES: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.

INTRODUCTION: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. OBJECTIVE: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. CLINICAL CASE: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. CONCLUSIONS: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.

Epilepsia y pandemia por COVID-19: recomendaciones para un manejo integral / Epilepsy and pandemic by COVID-19: recommendations for an integral management

La pandemia de COVID-19, nos ha enfrentado una situación de emergencia que ha impactado múltiples aspectos de la vida diaria y además dificultades asociadas al manejo de las enfermedades crónicas como la epilepsia, en la cual la adherencia al tratamiento, los costos y las comorbilidades, juegan un rol importante. También el personal que trabaja o que atiende a los pacientes con epilepsia, su entorno y familiares han debido modificar su accionar. Hay pacientes, que han mejorado el control de sus crisis por diferentes motivos y otros en cambio, han empeorado y además han evolucionado con mayor ansiedad. El objetivo de este artículo es revisar diferentes elementos a considerar en el manejo de las epilepsias en el contexto de la pandemia por COVID-19.

The COVID-19 pandemic has faced us with an emergency situation that has impacted multiple aspects of daily life and also difficulties associated with the management of chronic diseases such as epilepsy, in which adherence to treatment, costs and comorbidities, play an important role. Also, the staff who work with or care for patients with epilepsy, their environment and family members have had to modify their actions. There are patients, who have improved the control of their seizures for different reasons while others have worsened and have also presented with greater anxiety. The objective of this article is to review different elements to consider in the management of epilepsy in the context of the Pandemic by COVID-19.

Epilepsy and acute respiratory syndrome ­ related coronavirus 2 (SARS-CoV-2): are people with epilepsy at risk? / Epilepsia e síndrome respiratória aguda relacionada ao coronavírus 2 (SARS-CoV-2): as pessoas com epilepsia estão em risco?

In February 2020, the pandemic disease designated COVID-19, caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has shown to be able to cause severe illness in some patients. Recent studies have hypothesized that the SARS-CoV-2 exploits the angiotensin-converting enzyme 2 (ACE2) receptor to gain entry inside the cells and so reach the central nervous system1. Amid this context, we have about 50 million people with epilepsy taking antiseizure drugs (ASDs) and or other medications (eg.: steroids, Cannabidiol, etc.) that are at risk to be infected by SARS-CoV-2 virus. So, we did an extensive review in the literature searching for recent studies that had explored the effects of the role of SARS-CoV-2 infection and epilepsy. We did not find evidence of poor outcomes between epilepsy and COVID-19. Regarding ASDs, we have found that enzyme inducers and inhibitors can have significant interactions with drugs that have been used to treat COVID-19 such as antiretrovirals, antibiotics, and antimalarial drugs. In contrast, others have fewer or no interactions with them as such as benzodiazepines, Lamotrigine, Levetiracetam, Topiramate, Perampanel, and so on. Besides that, the management of seizures in epileptic patients and status epilepticus should not be different from the usual protocol. However, the acknowledgment of these potential drug interactions could help in the right choice of ASDs, and also be aware of potential risk drug combinations and the importance in some cases of close monitoring of serum levels and adverse events.

Desde de Fevereiro de 2020, a doença pandêmica conhecida como COVID-19, causada pelo Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) tem se mostrado capaz de acometer gravemente alguns pacientes. Estudos recentes levantaram hipóteses de que o SARSCoV-2 explora o receptor da enzima conversora de angiotensina 2 (ACE2) para entrar no interior das células e atingir o sistema nervoso central1 . Nesse contexto, temos cerca de 50 milhões de pessoas com epilepsia em uso de medicações antiepilépticas (DAEs) e ou outras medicações (como corticoesteroides, Canabidiol, etc.). Por isso, fizemos uma extensa revisão na literatura, buscando estudos recentes que exploraram os efeitos do papel da infecção por SARS-CoV-2 e da epilepsia. Até o momento, não há evidências de que pessoas com epilepsia apresentam prognóstico ruim no que se refere ao COVID-19. No que se refere aos antiepilépticos, foi encontrado que indutores e inibidores enzimáticos são os que apresentam mais interação medicamentosa com drogas utilizadas no tratamento do COVID-19, tais como antirretrovirais, antibióticos, e drogas antimaláricas, enquanto outras apresentam pouca ou nenhuma interação com esses. Além disso, o manejo de crises epilépticas e estado de mal epiléptico não deve diferente do protocolo usual. No entanto, o reconhecimento das potenciais interações medicamentosas nesse contexto pode auxiliar na escolha correta do antiepiléptico, e alertar sobre os potenciais riscos de combinação entre drogas e a importância de em alguns casos monitorizar de perto os níveis séricos e eventos adversos.

Características clínicas del trastorno de déficit atencional e hiperactividad en epilepsia / Clinical features of the attentional deficit and hyperactivity disorder in epilepsy

La epilepsia y el trastorno por déficit de atención e hiperactividad (TDAH) son condiciones frecuentes en pediatría y suelen presentarse asociadas en muchos pacientes. Su relación es compleja y comparten comorbilidad psiquiátrica. Los pacientes con ambas condiciones conjuntas, epilepsia y TDAH, se presentan con igual frecuencia en ambos géneros, predominando la presentación inatenta. El déficit cognitivo incrementa el riesgo de asociar TDAH en pacientes con epilepsia. No hay evidencia suficiente para otros factores de riesgo, sin embargo, se puede anticipar su presencia en pacientes con algunos tipos de epilepsia y con modelos neuropsicológicos que evidencian la disfunción de redes subyacentes. Se revisa la relación con el control de crisis, las alteraciones electroencefalográficas y los fármacos antiepilépticos (FAEs). Se describen las recomendaciones para reducir efectos adversos de FAEs. El diagnóstico de TDAH en pacientes con epilepsia debe partir por la sospecha, a través de instrumentos clínicos y valoraciones de funcionamiento cognitivo. El tratamiento multimodal es recomendado para pacientes con TDAH con y sin epilepsia. Los psicoestimulantes se pueden usar con seguridad. La calidad de vida se afecta en pacientes y sus familias, por lo que la educación, pesquisa precoz y referencia para rehabilitación, están encaminadas a resolver las dificultades de estos pacientes. En caso contrario, se generan consecuencias negativas escolares, sociales y emocionales, que pueden ser relevantes y persistentes.

Epilepsy and attention deficit and hyperactivity disorder (ADHD) are frequent conditions in pediatrics. Their association is frequent and complex, often sharing psychiatric comorbidity. Patients who present epilepsy and ADHD, show equal frequency in both genders, with the inattentive type, as predominant presentation. Cognitive deficit increases the risk of associating ADHD in patients with epilepsy. There is not enough evidence for other risk factors, however there is enough information that allows to ant icipate its presence in some types of epilepsy, with neuropsychological models that evidence the underlying network dysfunction. The relationship with frequency and seizure control, electroencephalographic alterations and antiepileptic drugs (AEDs) is also reviewed. Recommendations to reduce adverse effects of AEDs are described. The diagnosis must therefore be based on suspicion, through clinical instruments and assessments of cognitive functioning. Multimodal treatment is also recommended in patients with ADHD with and without epilepsy. Psych stimulants can be used safely. The quality of life of the patients and their families is affected, so it is advisable for them to be supported by a specialized team that could provide education, early assessment and therapy. If they are omitted, the consequences can be negative at school, social environment and emotional development, which could be relevant and become persistent.

Crisis sintomáticas agudas y epilepsia en niños y adolescentes en época de COVID-19 / Acute symptomatic crisis and epilepsy in children and adolescents in times of COVID-19

Objetivo: Describir los aspectos de mayor relevancia en niños y adolescentes con crisis sintomáticas agudas o diagnóstico de epilepsia, en tiempo de pandemia de la COVID-19. Métodos: La información se obtuvo de las bases de datos PubMed/Medline, Scielo, y Clinical Key utilizando palabras clave incluidas en el Descriptor de Ciencias de la Salud en idioma inglés o español, sin límite de tiempo, y todo tipo de publicación; se seleccionaron los artículos relacionados con epilepsia, crisis epilépticas, y COVID-19. Resultados: En la literatura se justifica la ocurrencia de crisis epilépticas por varias causas en enfermos con la COVID-19 y se insiste en la conducta terapéutica y la necesidad de vigilancia de las interacciones farmacológicas entre los medicamentos indicados para la prevención de recurrencia de las crisis epilépticas y los específicos para esta nueva enfermedad. Basado en estos criterios, presentamos una propuesta para la conducta a seguir en cada situación. Consideraciones finales: Esta comprobada la posibilidad de que ocurran complicaciones neurológicas en pacientes con la COVID-19 y específicamente en las crisis epilépticas y la epilepsia. El uso de interferón y lopinavir/ritonavir, en caso de estar indicado en los protocolos de actuación, y el mantenimiento del tratamiento previo con los medicamentos para prevenir la recurrencia de crisis en los epilépticos, considerando las posibles interacciones y la vigilancia requerida en cada caso, parece ser la mejor opción en la mayoría de los niños y adolescentes con COVID-19(AU)

Objective: To describe the most outstanding aspects in children and adolescents with acute symptomatic crisis or diagnosis of epilepsy in times of the COVID-19 pandemic. Methods: The information was collected in PubMed/Medline, Scielo and Clinical Key databases using the keywords included in the Descriptor of Health Sciences in English or Spanish language, with not time limit, and looking for all kind of publications. There were selected articles related to epilepsy, epileptic seizures and COVID-19. Results: In the consulted literature, it was justified the occurrence of epileptic seizures due to different causes in patients with COVID-19 and it is highlighted the therapeutic behaviour and the need of surveillance of the pharmacologic interactions among the drugs indicated for the prevention of epileptic seizures and the specific of this new disease. Based in these precepts, we present a final proposal for the behaviour to follow in each situation. Final considerations: It is proved the possibility of neurologic complications in patients with COVID-19 and specifically in the epileptic seizures and epilepsy. The use of interferon and lopinavir/ritonavir, in case of being indicated in the action protocols, and to keep the previous treatment with the drugs to prevent the recurrence of crisis in epileptic patients considering the possible interactions and the required surveillance in each case, seems to be the best option in most of the children and adolescents with COVID-19(AU)

Muerte súbita en epilepsia / Sudden death in epilepsy

The risk of sudden unexpected death in patients with epilepsy (SUDEP), is 20 to 25 times greater than in the general population. This increased risk is seen specially in refractory epilepsy, with an incidence of 9:1,000 patients-years. Risk factors have been established based on retrospective studies, finding that the frequency of seizures, specially generalized tonic clonic seizures, is the most important one. The physiopathological mechanism of SUDEP is not yet fully understood. Autonomic system abnormalities, as well as cardiac and respiratory changes have been found. The finding of new molecular biomarkers to identify patients with increased risk should be a priority. Treatment is based in the management of risk factors, although clear recommendations are hard to establish given the low level of evidence.

Comorbilidad psiquiátrica en niños con epilepsia benigna de la infancia / Psychiatric comorbidity in children with benign childhood epilepsy

La epilepsia es una enfermedad crónica que en ocasiones puede afectar el funcionamiento emocional, cognitivo y lingüístico del niño e impactar en su funcionamiento intra-psíquico e interpersonal incluyendo a su familia y al medio académico y social. Si bien en el ámbito internacional se han realizado numerosos estudios que han podido demostrar que muchos niños con epilepsia ven afectadas sus funciones mentales, sus emociones y conducta, muy pocas investigaciones se propusieron explorar la relación existente entre psicopatología y tipo de epilepsia. Es frecuente que la epilepsia se acompañe de síntomas y cuadros psicológicos y psiquiátricos, causados ya sea por los efectos neurofisiológicos de la misma enfermedad, como consecuencia de las condiciones de vida que la enfermedad impone, por las características constitucionales de los sujetos, por la dinámica que se establece en el plano familiar y también como efectos adversos de la medicación. El predominio de problemas del comportamiento en niños con epilepsia se muestra dos veces superior al considerado en niños con enfermedades crónicas que no implican el SNC y cuatro veces superior al de niños sanos. Estudios más recientes señalan la presencia de disturbios del comportamiento en 21-32% de niños con epilepsia usando la lista de comprobación del comportamiento del niño, en 23-26% con el inventario de la depresión del niño, en el 48% con la escala de Rutter. Es objetivo de esta investigación, determinar la distribución de los trastornos mentales asociados a epilepsia benigna de la infancia en un grupo de pacientes de entre 6 y 13 años y comparar esta distribución con la de un grupo de niños de entre 6 y 13 años de la población escolar general (AU)

Epilepsy is a chronic disease that may affect emotional, cognitive, and linguistic, as well as inter-psychic and intrapersonal functioning including the family and academic and social environments. Although numerous international studies have been conducted showing that in children with epilepsy cognitive function, emotions, and behavior are often impaired, few investigations have proposed to assess the correlation between psychopathology and type of epilepsy. Epilepsy is commonly associated with psychological and psychiatric features caused either by the neurophysiological effects of the disease or by the conditions of life related to the disease, due to constitutional characteristics of the patients, family dynamics, and adverse effects of the antiepileptic drugs. Predominance of behavioral difficulties of children with epilepsy are two-fold higher than in children with other chronic diseases not involving the CNS and four-fold higher than in healthy children. More recent studies have found the presence of behavioral disturbances in 21-32% of children with epilepsy using a checklist of child behavior, with the Child Depression Inventory in 23-26% and the Rutter Scale in 48%. The aim of this study was to determine the distribution of mental disorders associated with benign childhood epilepsy in a group of patients between 6 and 13 years of age compared with that in a group of children between 6 and 13 years of age from the general school-age population (AU)

Trastornos psiquiátricos asociados a las epilepsias / Psychiatric disorders associated to the epilepsy

Introducción: La Epilepsia representa un problema de salud mundial y es considerada tan antigua como la humanidad misma y uno de los trastornos del Sistema Nervioso Central más frecuentes. Los pacientes que padecen esta enfermedad, tienen una comorbilidad psiquiátrica asociada y, a su vez, consecuencias sociales, psicobiológicas y económicas, por lo que se hace necesario que los profesionales de la salud, conozcan estas alteraciones para su manejo integral, lo cual constituye el objetivo fundamental de este artículo. Objetivo: identificar tempranamente los factores de riesgo que se relacionan con los síntomas neuroconductuales en el paciente que padece epilepsia, con el fin de minimizar sus efectos y mejorar la calidad de vida de los mismos. Material y Métodos: Se realizó una revisión de la literatura nacional e internacional, seleccionándose las citas de los últimos 10 años relacionadas con los trastornos psiquiátricos asociados a las epilepsias. Se precisan los factores relacionados con la epilepsia y los trastornos de conducta. Resultados: Se describen la frecuencia de los trastornos psiquiátricos en los pacientes con epilepsia y, entre estos, los trastornos psicóticos y afectivos bipolares, depresión, manía, conductas suicidas, trastornos de ansiedad y personalidad, la hiperactividad y déficit atencional, los efectos psicotrópicos de las drogas antiepilépticas y los trastornos psiquiátricos en la cirugía en epilepsia. Conclusiones: La comorbilidad psiquiátrica en pacientes que padecen epilepsia es frecuente y de causa multifactorial, por lo cual es de significativa importancia para el facultativo, poder reconocer los elementos que se relacionan con los síntomas neuroconductuales en ellos, con el fin de adoptar las medidas necesarias para minimizar sus efectos y mejorar su calidad de vida(AU)

Introduction: Epilepsy is a global health problem and is considered as old as humanity itself and one of the most common Central Nervous System´s disorders. Patients with this disease have a psychiatric comorbidity and in turn, social, economic and psychobiological consequences, so it is necessary that health professionals, know these alterations for a comprehensive management of these patients, which is the main purpose of the review. Objective: to identify early risk factors that relate to neurobehavioral symptoms in patients with epilepsy, in order to minimize their effects and improve the life´s quality for them. Material and Methods: Was performed a review of national and international literature by selecting the articles from the past decade related to psychiatric disorders associated with epilepsy. Factors related to epilepsy and behavioral disorders are specified. Results: The frequency of psychiatric disorders in patients with epilepsy are described and among these, psychotic and bipolar affective disorders, depression, mania, suicidal behavior, anxiety and personality disorders, hyperactivity and attention deficit, the psychotropic effects of antiepileptic drugs and psychiatric disorders in epilepsy surgery. Conclusions: Psychiatric comorbidity in patients with epilepsy are frequent and of multifactorial cause, which is of significant importance to the physician, to recognize the elements that relate to neurobehavioral symptoms in these patients, in order to take the necessary measures to minimize their effects and improve the life´s quality(AU)

Refractory epilepsy in children with brain tumors. The urgency of neurosurgery / Epilepsia refratária em crianças com tumores cerebrais. A urgência de neurocirurgia

ABSTRACT In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

RESUMO A fim de verificar os aspectos da indicação cirúrgica, vinte e sete pacientes com epilepsia refratária secundária a tumor cerebral, com idade de até 19 anos na cirurgia, operados entre 1996 e 2013 e seguidos por pelo menos um ano, foram estudados. O intervalo médio entre o início das crises e o diagnóstico do tumor foi de 3,6 anos, e deste para a cirurgia, 18 meses. A localização do tumor foi lobo temporal em 16, sendo ganglioglioma e DNET os tipos mais frequentes. Entre os pacientes, 92,5% e 90,4% estavam livres de crises no primeiro e no quinto ano após a cirurgia, respectivamente. Doze de 16 crianças obtiveram sucesso na retirada de drogas, com a média de tempo de 3,2 anos após o procedimento. A cirurgia provou ser potencialmente curativa e segura nestes casos, o que sugere que perante o diagnóstico de tumor esta não pode ser adiada.

Dissociative experiences in patients with epilepsy / Experiências dissociativas em pacientes com epilepsia

ABSTRACT A few studies have explored dissociative experiences in epilepsy patients. We investigated dissociative experiences in patients with epilepsy using the dissociative experiences scale (DES). Ninety-eight patients with epilepsy and sixty healthy controls were enrolled in this study. A sociodemographic questionnaire and the Dissociative Experiences Scale (DES), Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI) were administered to the participants. The DES scores were significantly higher for the patients with epilepsy than the healthy individuals. The number of individuals with pathological dissociation (DES ≥ 30) was higher in the epilepsy group (n = 28) than in the control group (n = 8). Also, higher levels of dissociation were significantly associated with frequency of seizures, but were not associated with duration of epilepsy and age at onset of the disorder. These findings demonstrate that patients with epilepsy are more prone to dissociation than controls. The high rate of dissociative experiences among patients with epilepsy suggest that some epilepsy-related factors are present.

RESUMO Poucos estudos exploraram as experiências dissociativas em pacientes com epilepsia. Investigamos as experiências dissociativas em pacientes com epilepsia através da Escala de Experiências Dissociativas (EED). Noventa e oito pacientes com epilepsia e 60 controles saudáveis foram incluídos neste estudo. Um questionário sócio-demográfico, a EED, o Beck Depression Inventory (BDI) e o Beck Anxiety Inventory (BAI) foram administrados aos participantes. Os valores de EED foram significativamente maiores nos pacientes com epilepsia em relação aos controles saudáveis. O número de indivíduos com doença dissociativa (EED ≥ 30) foi maior no grupo de epilepsia (n = 28) todo que no grupo controle (n = 8). Além disto, altos níveis de dissociação estavam associados à frequência de crises epilépticas, mas não à duração da epilepsia ou idade de início da doença. Estes achados demonstram que pacientes com epilepsia são maus susceptíveis à dissociação do que os controles. O alto índice de experiências dissociativas entre os pacientes com epilepsia sugere que alguns fatores específicos da epilepsia possam estar relacionados aos achados.

Convulsão febril: estudo de base populacional / Febrile seizures: a population-based study

Resumo Objetivos Estabelecer a prevalência das crises febris e descrever o perfil clínico e epidemiológico dessa população. Métodos Estudo transversal de base populacional feito em Barra do Bugres (MT), de agosto de 2012 a agosto de 2013. Os dados foram coletados em duas etapas. Na primeira etapa usamos um questionário validado previamente em outro estudo brasileiro, para identificação de casos suspeitos de crises epilépticas. Na segunda etapa fizemos a avaliação neuroclínica para confirmação diagnóstica. Resultados A prevalência de crise febril foi de 6,4/1.000 habitantes (IC95% 3,8; 10,1). Não houve diferença entre os sexos. As crises febris simples foram encontradas em 88,8% dos casos. A história familiar de crise febril e epilepsia em parentes de primeiro grau esteve presente em 33,3% e 11,1% dos pacientes, respectivamente. Conclusões A prevalência da crise febril na Região Centro-Oeste foi menor do que a encontrada em outras regiões brasileiras, provavelmente relacionado à inclusão apenas das crises febris com manifestações motoras e as diferenças de fatores socioeconômicos entre as regiões pesquisadas.

Abstract Objectives To determine the prevalence of benign febrile seizures of childhood and describe the clinical and epidemiological profile of this population. Methods This was a population-based, cross-sectional study, carried out in the city of Barra do Bugres, MT, Brazil, from August 2012 to August 2013. Data were collected in two phases. In the first phase, a questionnaire that was previously validated in another Brazilian study was used to identify suspected cases of seizures. In the second phase, a neurological evaluation was performed to confirm diagnosis. Results The prevalence was 6.4/1000 inhabitants (95% CI: 3.8-10.1). There was no difference between genders. Simple febrile seizures were found in 88.8% of cases. A family history of febrile seizures in first-degree relatives and history of epilepsy was present in 33.3% and 11.1% of patients, respectively. Conclusions The prevalence of febrile seizures in Midwestern Brazil was lower than that found in other Brazilian regions, probably due to the inclusion only of febrile seizures with motor manifestations and differences in socioeconomic factors among the evaluated areas.