Smartphone applications for the management of epilepsy in children and adolescents / Aplicativos de smartphone para o gerenciamento de epilepsia em crianças e adolescentes

ABSTRACT Objective: To describe how smartphone applications can contribute to the management of epilepsy in children and adolescents. Data source: This is an integrative review conducted on the Medline, PubMed, and SciELO databases, based on the descriptors "epilepsy" and "smartphone." Original studies published between 2017-2023 in Portuguese or English that addressed the research question were included. Theses and dissertations, duplicate studies, literature reviews, and studies that did not answer the research question were excluded. Data synthesis: A total of 178 studies were located, of which six were selected for this review. The sample included 731 participants (631 children and adolescents with epilepsy and 100 caregivers). The applications allow for the collection of seizure frequency; timing and type of crisis; reminders for medication administration; and information about sleep quality. They can store these data for healthcare professionals, caregivers, and users to monitor the progress of the condition. Conclusions: The use of applications in managing seizures in children and adolescents with epilepsy shows promising results by promoting continuous and personalized monitoring. Further studies are needed to optimize beneficial outcomes and overcome challenges.

RESUMO Objetivo: Descrever como aplicativos de smartphone podem contribuir para o gerenciamento de quadros de epilepsia em crianças e adolescentes. Fontes de dados: Trata-se de uma revisão integrativa realizada nas bases de dados Medline; PubMed e SciELO, com base nos descritores "epilepsy" e "smartphone". Foram incluídos estudos originais publicados entre 2017-2023 em português ou inglês que respondessem à pergunta de investigação. Teses e dissertações, estudos duplicados, revisões de literatura e estudos que não responderam à questão de pesquisa foram excluídos. Síntese dos dados: Foram localizados 178 estudos, dos quais seis foram selecionados para compor esta revisão. A amostra incluiu 731 participantes (631 infantojuvenis com epilepsia e 100 cuidadores). Os aplicativos permitem a coleta da frequência de convulsões; momento e o tipo de crise; lembretes para a administração de medicamentos; e informações sobre a qualidade do sono, sendo capazes de armazenar esses dados para profissionais da saúde, cuidadores e usuários acompanharem a evolução do quadro. Conclusões: O uso de aplicativos no manejo das convulsões de crianças e adolescentes com epilepsia apresenta resultados promissores ao promoverem um monitoramento contínuo e personalizado. Novos estudos são necessários para otimizar os resultados benéficos e superar desafios.

Transición del paciente epiléptico de la atención pediátrica a la atención de adultos / Transition of the epileptic patient from pediatric to adult care

La transición de la atención pediátrica a la atención de adultos en pacientes con epilepsia de inicio en la infancia es un desafío en el cual deben tenerse en cuenta varios aspectos: síndrome epiléptico, etiología, las comorbilidades, la consecución de hitos sociales y el ajuste de la medicación anticrisis (MAC). Sin embargo, existe poca información sobre la evolución de estos pacientes, tras la transición a la atención de adultos con epilepsia. Métodos: Estudio retrospectivo, revisión de historias clínicas de pacientes con diagnóstico de epilepsia farmacorresistente seguidos en el servicio de neurología, área de epilepsia entre 14 y 17 años que transitaron a la atención de adultos entre 2019 y 2023. Resultados: Se encontraban en seguimiento por el área de epilepsia de difícil control 730 pacientes entre 2019 y 2023. De estos 47 (21 hombres y 26 mujeres) iniciaron el proceso de transición a un centro de atención de adultos. La edad promedio de derivación es de 15,8 años (rango de 14 a 21 años), mediana de 16 y 18 años. De los 47 pacientes, 24 corresponden a encefalopatías epilépticas y del desarrollo,12 epilepsia focal de origen estructural debido a malformaciones del desarrollo cortical, 3 lesiones vasculares; 3 lesiones tumorales y 5 pacientes con Síndrome de Rasmussen (AU)

The transition from pediatric to adult care in patients with childhood-onset epilepsy is a challenge in which several aspects must be considered: epileptic syndrome, etiology, comorbidities, achievement of social milestones, and adjustment of anti-seizure medication (ASM). However, there is limited information regarding the outcomes of these patients following the transition to adult epilepsy care. Methods: Retrospective study, review of medical records of patients with a diagnosis of drug-resistant epilepsy followed in the Epilepsy Unit of the Department of Neurology between the ages of 14 and 17 years and transitioned to adult care between 2019 and 2023. Results: 730 patients were under follow-up in the difficultto-control epilepsy area between 2019 and 2023. Of these, 47 patients (21 males and 26 females) began the process of transitioning to adult care. The mean age at referral was 15.8 years (range, 14 to 21 years; median, 16 and 18 years). Among these 47 patients, 24 had developmental and epileptic encephalopathies, 12 had focal epilepsy of structural origin due to malformations of cortical development, 3 had vascular lesions, 3 had tumors, and 5 had Rasmussen's syndrome (AU)

Malformaciones del desarrollo cortical: ¿qué hay de nuevo? / Malformations of cortical development: What's new?

Resumen Las malformaciones del desarrollo cortical (MDC) son alteraciones estructurales que interrumpen el proceso normal de desarrollo cortical in utero. Se incluyen la microcefalia, con patrón giral simplificado/microlis encefalia, hemimegalencefalia, displasia cortical focal, lisencefalia, heterotopía, polimicrogiria y esquizence falia. Se presentan con epilepsia farmacorresistente, retraso del desarrollo, déficit neurológico o compromiso cognitivo. El diagnóstico es complejo debido a la am plia variedad en su presentación y etiología. Aunque el diagnóstico definitivo es por anatomía patológica, las neuroimágenes cumplen un rol fundamental. Además, es sumamente importante conocer la alteración en el mecanismo molecular involucrado en la fisiopatogenia de la malformación. El creciente desarrollo de la biología molecular y de los estudios genéticos han mejorado el conocimiento de las causas genéticas de las MDC. Esto permitirá mejorar el pronóstico, consejo genético y pro bablemente las opciones terapéuticas.

Abstract Malformations of cortical development (MCDs) are structural abnormalities that disrupt the normal pro cess of cortical development in utero. MCDs include microcephaly with simplified gyral pattern/microlyssen cephaly, hemimegalencephaly, focal cortical dysplasia, lissencephaly, heterotopia, polymicrogyria, and schizen cephaly. The debut of MCD can be with pharmacoresis tant epilepsy, developmental delay, neurologic deficits, or cognitive impairment. The diagnostic pathway for MCDs is complex owing to wide variations in presenta tion and etiology. Although the definitive diagnosis of MCD depends on histopathology, neuroimages have an important role in this process. Furthermore, knowing the disturbance of the molecular pathway involved is important. Increased understanding of the molecular biology and recent advances in genetic testing have caused rapid growth in the knowledge of the genetic causes of MCDs, allowing for information on prognosis, recurrence risk, and prediction of treatment outcomes.

Síndromes epilépticos en pediatría ¿Qué hay de nuevo? / Epilepsy syndromes in pediatrics: What´s new?

Resumen La clasificación de síndromes epilépticos en pe diatría ha sufrido cambios significativos. En el 2017, la Comisión en Nosología y Definiciones de la Liga Internacional Contra La Epilepsia propuso una nueva clasificación y definición y estableció criterios, man datarios, de exclusión y de alerta para los diferentes síndromes. El objetivo de este artículo no es revisar detalladamente cada uno de estos síndromes, pero en fatizar en los que han sufrido cambios importantes en terminología o en los cuales se ha obtenido consenso o se han diseñado nuevos métodos para optimizar el diagnóstico y tratamiento.

Abstract The classification of epilepsy syndromes in pediatrics has undergone significant changes. In 2017, the Interna tional League Against Epilepsy Task Force on Nosology and Definitions proposed a new classification and defini tion and established mandatory, exclusionary, and alert criteria for the diagnosis of the different syndromes. The goal of this article is not to provide an extensive review of each syndrome, but to focus on syndromes that suffered important changes in terminology and/or when consen sus or new methods to improve diagnosis and treatment have been designed.

Tratamiento no quirúrgico de la epilepsia refractaria en niños / Non-surgical treatment of refractory epilepsy in children

Resumen Aproximadamente el 30% de las personas con epilep sia será refractaria. Este manuscrito revisa las modalida des actuales y basadas en la evidencia de tratamientos no quirúrgicos para la epilepsia refractaria pediátrica, incluyendo estrategias farmacológicas y dietéticas.

Abstract Approximately 30% of people with epilepsy will be refractory. This manuscript reviews current evidence-based non-surgical treatment modalities for pediatric refractory epilepsy, including pharmacological and di etary strategies.

Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico / Epilepsy or functional neurological disorders. Strategies for diagnosis

Resumen Una convulsión es la manifestación de signos o síntomas producidos por una actividad neuronal excesiva o sincrónica en el cerebro. Suele presen tarse como episodios breves, autolimitados, de mo vimientos involuntarios que pueden afectar a una parte del cuerpo o su totalidad y que, en ocasiones, se acompañan de pérdida de la conciencia y control de esfínteres. Puede considerarse epilepsia una sola crisis no provocada en un paciente con un elevado riesgo de recurrencia. Los trastornos paroxísticos no epilépticos se definen como episodios de aparición brusca y de breve duración que imitan a una crisis epiléptica, originados por una disfunción cerebral de origen diverso que a diferencia de la epilepsia no obedecen a una descarga neuronal exce siva. Su incidencia es mucho más elevada que la epilep sia y pueden aparecer a cualquier edad. Es importante para el diagnóstico analizar los factores desencadenan tes, los pormenores de cada episodio, examen físico y solamente proceder a los exámenes complementarios básicos como video-electroencefalograma en caso de duda o para confirmación diagnóstica. Existe la tendencia a sobrediagnosticar epilepsia y al uso excesivo de fármacos anticonvulsivos. Los que con mayor frecuencia se pueden confundir son los síncopes, ensoñaciones y las pseudocrisis.

Abstract A seizure is the manifestation of symptoms or signs produced by excessive or synchronous neuronal activity in the brain. It usually presents as brief, self-limited epi sodes of involuntary movements that can affect a part or the entire body and that are sometimes accompanied by loss of consciousness and sphincter control. Epilepsy may be considered after a single unprovoked seizure in a patient with a high risk of recurrence. Paroxysmal non-epileptic disorders are defined as episodes of sudden onset and short duration that imi tate an epileptic seizure, caused by a brain dysfunction of diverse origin that, unlike epilepsy, is not due to excessive neuronal discharge. Its incidence is much higher than epilepsy and it can appear at any age. It is important for diagnosis to analyze the triggering fac tors, the details of each episode, physical examination and only proceed to basic complementary tests such as video-electroencephalogram in case of doubt or for diagnostic confirmation. There is a tendency to overdiagnose epilepsy and excessive use of anticonvulsant drugs. Those that can most frequently be confused are syncope, "daydreams" and pseudoseizures.

Síndromes epilépticos neonatales / Neonatal epileptic syndromes

Resumen Los síndromes epilépticos neonatales hacen parte de las epilepsias de origen genético y metabólico en este grupo edad y aunque no son la causa más frecuente de crisis neonatales, su reconocimiento temprano permite dirigir mejor su enfoque diagnóstico y tratamiento. Pue den clasificarse en síndromes neonatales autolimitados y encefalopatías epilépticas y del desarrollo infantil temprano (EIDEE). Aunque pueden mostrar semiología similar en algunos tipos de crisis, como las secuenciales, e incluso comparten alteraciones en genes comunes en su etiología, su evolución es muy diferente. En los sín dromes autolimitados, las crisis remiten en los primeros meses de vida alcanzando un desarrollo psicomotor nor mal, lo que da su nombre de autolimitado; sin embargo, el término benigno no debe utilizarse dado que algunos pueden presentar recurrencia de crisis, trastornos del movimiento o trastornos del aprendizaje. En las EIDEE las crisis suelen ser refractarias al tratamiento y se comprometen funciones cerebrales y el neurodesarrollo. En esta revisión describiremos el fenotipo electroclínico de los síndromes epilépticos neonatales, los genes más frecuentemente involucrados y su espectro clínico, su enfoque diagnóstico, así como los tratamientos reco mendados.

Abstract Neonatal epileptic syndromes are part of the genetic and metabolic epilepsies in this age group. Although they are not the most frequent cause of neonatal sei zures, their early recognition allows for better diagnostic and therapeutic approaches. These syndromes can be classified into self-limited neonatal syndromes and early infantile epileptic and developmental encephalopathies (EIDEE). While they may share semiology in some types of seizures, such as sequential, and even share altera tions in common genes in their etiology, their evolution is very different. In self-limited neonatal syndromes, seizures typically resolve within the first months of life with normal psychomotor development, giving rise to the term self-limited. However, the term benign should not be used as some may present recurrence of seizures, movement disorders, or learning disorders. In the case of EIDEE, seizures are usually refractory to treatment, affecting brain functions and neurodevelopment. In this review, our aim was to describe the electro clinical phenotype of neonatal epileptic syndromes, the most frequently involved genes and their clinical spectrum, their diagnostic approach, as well as the rec ommended treatments.

Análisis de la Tasa de mortalidad a nivel sociodemográfico por epilepsia durante los años 2018-2022 en Chile

En Chile no existen datos actualizados sobre tasa de mortalidad (TM) asociada a epilepsia, por lo que resulta relevante estudiarlo. Objetivo: Describir la TM de epilepsia como causa básica durante los años 2018-2022 en Chile. Materiales y Métodos: Estudio observacional, descriptivo y transversal que estudió la TM por epilepsia como causa básica de defunción, durante los años 2018 a 2022 en Chile bajo las variables sexo, edad, región y lugar del deceso. Los datos fueron obtenidos del Instituto Nacional de Estadísticas (INE) y del Departamento de Estadísticas e Información de Salud (DEIS). Posteriormente, se agruparon las variables y se calculó la TM y el índice de sobremortalidad. Resultados: La TM del periodo fue de 1,67 por 100.000 habitantes. La mayor TM se presentó el 2022 con 1,72 por 100.000 habitantes y la menor TM en el 2019 con 1,5. El sexo masculino tuvo una mayor TM del periodo que el sexo femenino con 1.92 por cada 100.000 habitantes y una sobremortalidad masculina de 1,55. El grupo etario con mayor TM fue el de 80 años y más con 10,75 cada 100.000 habitantes. Discusión: Durante el período estudiado, no observamos un aumento de la TM , la cual mostró diferencias según sexo, región del país y el medio en que ocurre, presentando mayor prevalencia en Los Ríos y en lugares extrahospitalarios.

In Chile there are no updated data on epilepsy-related mortality rate (MR), so it is relevant to study it. Objective: To describe the MR due to epilepsy as a primary cause during the years 2018-2022 in Chile. Materials and Methods: Observational, descriptive, cross-sectional and ecological study that studied TM due to epilepsy as a basic cause of death, during the years 2018 to 2022 in Chile under the variables sex, age, region and place of death. The data were obtained from the National Institute of Statistics (INE) and the Department of Health Statistics and Information (DEIS), obtaining 1381 cases. Subsequently, they were tabulated using the Microsoft Excel program, where the variables were grouped and the TM and the excess mortality index were calculated. Results: The MR for the period was 1.67 per 100,000 inhabitants. The highest MR occurred in 2022 with 1.72 per 100,000 inhabitants and the lowest MR in 2019 with 1.5. The male sex had a higher MR for the period than the female sex with 1.92 per 100,000 inhabitants and a male overmortality of 1.55. The age group with the highest MR was 80 years and older with 10.75 per 100,000 inhabitants. Discussion: During the analysed period, we did not observe an increase in the MR, which showed differences according to sex, region of the country and the place of death in which it occurs, with a higher prevalence in Los Rios and in out-of-hospital settings.

Teratogenicity of Valproic Acid: Can Reverse its Possible Effects on Testicular Development with Vitamin E? / Teratogenicidad del Ácido Valproico: ¿Se Pueden Revertir sus Posibles Efectos sobre el Desarrollo Testicular con la Vitamina E?

Epilepsy is the chronic non-communicable disease of the nervous system most prevalent in the world. Valproic acid (VPA) is one of the most used drugs in the treatment of epilepsy but with various side effects. One of the organs that can be affected is the testis, where it has been seen that men treated with VPA reduce their fertility rates, in addition to causing endocrine disorders by decreasing androgens and gonadotropins. In animal models, it has been shown to reduce the weights of the glands attached to the male reproductive tract, as well as at the testicular level, decreasing sperm concentration and increasing apoptotic cell count. These effects are because VPA increases reactive oxygen species (ROS), causing damage to macromolecules and affecting all cellular processes sensitive to oxide reduction. Throughout testicular development, in utero, it has been seen that the expression of antioxidant enzymes such as superoxide dismutase, catalase and glutathione peroxidase, are lower during early embryonic development, as well as vitamin E (VE) is decreased. Therefore, they are not sufficient to reverse the toxic effects of ROS. The objective of this study was to review the use of VPA during pregnancy, its effect on testicular development, and to explore the potential protective role of vitamin E.

La epilepsia es una enfermedad crónica no transmisible que afecta al sistema nervioso más prevalente en el mundo. Dentro de los tratamientos, uno de los fármacos más utilizados es el ácido valproico (AVP), el que ocasiona diversos efectos secundarios. Entre los órganos que se pueden ver afectados se encuentra la gónada masculina, en donde se ha visto que hombres en tratamiento con AVP reducen sus tasas de fecundidad, además de causar trastornos endocrinos disminuyendo andrógenos y gonadotrofinas. En modelos animales, se ha visto que disminuye los pesos de las glándulas anexas al tracto reproductor masculino, como también a nivel testicular, disminuyendo la concentración espermática y aumentando el recuento de células apoptóticas. Estos efectos se deberían a que el AVP aumenta las especies reactivas de oxígeno (ROS), ocasionando daño en macromoléculas, afectando todos los procesos celulares sensibles a óxido reducción. A lo largo del desarrollo testicular, in utero se ha visto que la expresión de enzimas antioxidantes como superóxido dismutasa, catalasa y glutatión peroxidasa, son más bajos durante el desarrollo embrionario temprano, como también la vitamina E (VE) se encuentra disminuida. Por tanto, no resultan suficientes para revertir los efectos tóxicos de las ROS. El objetivo de esta revisión fue asociar el uso de AVP durante la gestación y sus efectos a nivel del desarrollo testicular y describir el potencial rol protector de la VE.

Seizure timing and circadian patterns: a comprehensive bibliographic review / Cronometragem das crises epilépticas e padrões circadianos: uma revisão bibliográfica abrangente

Epilepsy's cyclic nature, increasingly quantified through advancements in continuous electroencephalography (cEEG), reveals robust seizure cycles including circadian, multidien, and circannual rhythms. Understanding these cycles' mechanisms and clinical implications, such as seizure forecasting and optimized treatment timing, is crucial. Despite historical observations, detailed analysis of seizure timing cycles has become feasible only recently, necessitating further research to confirm generalizability and clinical relevance. This paper reviews current literature on circadian rhythms in epilepsy, focusing on temporal seizure patterns and identifying knowledge gaps. A comprehensive review of studies, primarily using PubMed, synthesizes key findings from 20 studies on the temporal dynamics of epileptic activity. Research shows consistent circadian rhythms in seizure activity, with distinct daily peaks. Seizures often follow daily patterns, termed "seizure rush hours," with specific seizure types linked to particular times and influenced by sleep-wake cycles. These findings underscore the importance of understanding temporal patterns in epilepsy. Understanding these rhythms can enhance seizure prediction, diagnosis, and personalized treatment strategies. The significant role of biological rhythms suggests that tailored treatments based on individual circadian profiles could improve patient outcomes and quality of life. Further research is essential to elucidate the mechanisms driving these influences and validate findings across diverse cohorts.

A natureza cíclica da epilepsia, cada vez mais quantificada por meio dos avanços na eletroencefalografia contínua (cEEG), revela ciclos de crises epilépticas (CE) robustos, incluindo ritmos circadianos, multidiários e circanuais. Compreender os mecanismos e as implicações clínicas desses ciclos, como a previsão de CE e a otimização do momento do tratamento, é crucial. Apesar das observações históricas, a análise detalhada dos ciclos de tempo das CE tornou-se viável apenas recentemente, exigindo mais pesquisas para confirmar a generalização e a relevância clínica. Este artigo revisa a literatura atual sobre ritmos circadianos na epilepsia, focando nos padrões temporais das CE e identificando lacunas no conhecimento. Uma revisão abrangente dos estudos, principalmente utilizando o PubMed, sintetiza os principais achados de 20 estudos sobre a dinâmica temporal da atividade epiléptica. A pesquisa mostra ritmos circadianos consistentes na atividade das CE, com picos diários distintos. As CE frequentemente seguem padrões diários, denominados "horários de pico das convulsões" ("seizure rush hours"), com tipos específicos de CE vinculados a determinados horários e influenciados pelos ciclos sono-vigília. Esses achados destacam a importância de entender os padrões temporais na epilepsia. Compreender esses ritmos pode melhorar a previsão, o diagnóstico e as estratégias de tratamento personalizado das CE. O papel significativo dos ritmos biológicos sugere que tratamentos personalizados com base nos perfis circadianos individuais podem melhorar os resultados e a qualidade de vida dos pacientes. Mais pesquisas são essenciais para elucidar os mecanismos que impulsionam essas influências e validar os achados em diversas coortes.

Manejo quirúrgico en el estado epiléptico superrefractario / Surgical management in Super-refractory epilepticus status

Resumen Introducción: El estado epiléptico refractario (EER) constituye una emergencia médica grave, donde la crisis no cede a pesar del tratamiento farmacológico convencional. Se describe como estado epiléptico superrefractario (EESR) la continua presencia de episodios con una duración de 24 horas o más. Este reporte de caso detalla la complejidad en el manejo y explora un enfoque multidisciplinario. Presentación del caso: Paciente masculino de 32 años con antecedente de epilepsia focal secundaria a traumatismo craneoencefálico en la niñez, quien ingresó en contexto de EESR, el cual recibió coma barbitúrico, plasmaféresis y dieta cetogénica. En los exámenes, la resonancia magnética reveló una lesión en la región frontotemporal insular derecha; en la tomografía por emisión de positrones se observaron zonas de hipermetabolismo y en el videoelectroencefalograma una continua actividad epileptiforme. Se optó por la cirugía paliativa, logrando la resolución exitosa del EESR y una clasificación Engels IA a los 14 meses. Discusión: El EESR es un evento neurológico crítico con pronóstico reservado y opciones terapéuticas desafiantes. Se describen opciones terapéuticas desde anticonvulsivantes, inmunoterapia y cirugía, donde el abordaje quirúrgico emerge como una opción eficaz, especialmente en casos con lesiones estructurales. La identificación temprana y la terapia adecuada son vitales para prevenir complicaciones. Conclusiones: El EESR representa un desafío crítico con alta carga de morbimortalidad, sin embargo, la cirugía de epilepsia muestra promisorios resultados en el contexto de causa cerebral estructural, responsable de la actividad epileptiforme. Se destaca la importancia de la identificación temprana y el manejo quirúrgico paliativo como opción viable, mejorando la calidad de vida de los pacientes.

Abstract Introduction: Refractory Status Epilepticus (RSE) is a serious medical emergency where the seizure does not subside despite conventional pharmacological treatment. The continuous presence of episodes lasting 24 hours or more is described as super-refractory status epilepticus (SRSE). This case report details the complex in teraphy management and explores a multidisciplinary approach. Case presentation: A 32-year-old male with a history of focal epilepsy secondary to head trauma in childhood. Enters emergency with a RSE episode. Barbiturate coma, plasmapheresis and ketogenic diet were administered. The Magnetic Resonance Imaging revealed a lesion in the right fronto-temporo-insular cortex, areas of hypermetabolism on Positron Emission Tomography and continuous epileptiform activity on video-electroencephalogram. Palliative surgery was chosen, achieving successful resolution of the SRSE and Engel Scale IA classification at 14 months of follow up. Discussion: The SRSE is a critical neurological event with a guarded prognosis and complex therapeutic options. Therapeutic options are described from anticonvulsants, immunotherapy and surgery. The surgical approach emerges as an effective option, especially in cases with structural injuries. Early identification and appropriate therapy are vital to prevent complications. Conclusions: SRSE represents a critical challenge with a high burden of morbidity and mortality. However, epilepsy surgery shows promising results in the context of the structural brain cause responsible for epileptiform activity. The importance of early identification and palliative surgical management as a viable option is highlighted, improving the quality of life of patients.

Plan estratégico para el abordaje integral de las personas con epilepsia 2024-2031 / Strategic plan for the comprehensive approach to people with epilepsy 2024-2031

El presente Plan Estratégico para el abordaje integral de la persona con epilepsia 2024-2031 es la respuesta al compromiso del Plan Mundial para fortalecer la gobernanza para el abordaje integral de la persona en El Salvador, el Ministerio de Salud como rector ha elaborado con la participación de las Instituciones integrantes del Sistema Nacional Integrado de Salud. Dicho Plan integra el marco de referencia destacando el panorama mundial y nacional de la situación de las personas con epilepsia, estableciendo los principios rectores y enfoques para el abordaje integral, además las líneas estratégicas y actividades programadas

This Strategic Plan for the comprehensive approach to people with epilepsy 2024-2031 is the response to the commitment of the World Plan to strengthen governance for the comprehensive approach to the person in El Salvador, the Ministry of Health as rector has developed with the participation of the Institutions that make up the National Integrated Health System. This Plan integrates the reference framework highlighting the global and national panorama of the situation of people with epilepsy, establishing the guiding principles and approaches for a comprehensive approach, as well as the strategic lines and programmed activities

Síndrome de Miller-Dieker: reporte de dos casos / Miller-Dieker Syndrome: Two Cases Report

Resumen Introducción: El síndrome de Miller-Dieker cuenta con un patrón de herencia autosómico dominante y pertenece al grupo de trastornos de la migración neuronal. Se caracteriza por la presencia de lisencefalia de tipo 1, retraso global del desarrollo, microcefalia, epilepsia y dismorfismos faciales dados por mutaciones en el cromosoma 17p13. El síndrome de Miller-Dieker es una enfermedad extremadamente rara con prevalencia de 1 caso por cada 100,000 recién nacidos vivos. Presentación de casos: Nosotros presentamos dos casos de síndrome de Miller-Dieker en los que datos de la exploración física y del interrogatorio fueron pistas que permitieron una fuerte sospecha diagnóstica y que a su vez el diagnóstico definitivo mediante FISH permitió brindar un adecuado manejo con la finalidad de mejorar el pronóstico a largo plazo. Conclusión: Se debe tener una alta sospecha diagnóstica mediante la exploración física dirigida a identificar alteraciones en pacientes con epilepsia de difícil control, ya que permite guiar el diagnóstico etiológico y con ello brindar un adecuado tratamiento.

Abstract Introduction: Miller-Dieker syndrome has an autosomal dominant pattern of inheritance and belongs to the group of neuronal migration disorders. It is characterized by the presence of type 1 lissencephaly, global development delay, microcephaly, epilepsy and facial dysmorphisms caused by mutations in chromosome 17p13. Miller-Dieker syndrome is an extremely rare disease with a prevalence of 1 case per 100,000 live births. Case presentation: We present two cases of Miller-Dieker syndrome in which data from the physical examination and questioning were clues that allowed a strong diagnostic suspicion and that, in turn, the definitive diagnosis by means of FISH allowed us to provide adequate management in order to improve the long-term prognosis. Conclusion: A high diagnostic suspicion must be achieved through physical examination aimed at identifying alterations in patients with difficult-to-control epilepsy, since it allows guiding the etiological diagnosis and thereby providing adequate treatment.

Estimulación luminosa intermitente durante el electroencefalograma en epilepsia. Necesidad de homogeneizar su práctica en Hispanoamérica / Intermittent photic stimulation during electroencephalogram in epilepsy. Need to homogenize its practice in Hispanic America

RESUMEN La estimulación luminosa intermitente (ELI) es una de las maniobras más comunes y conocidas utilizadas durante los registros de electroencefalograma (EEG). A pesar de ser la de más fácil estandarización, presenta una gran variabilidad metodológica y la interpretación y clasificación de la respuesta fotoparoxística (RFP) sigue siendo, en gran medida, subjetiva. Objetivo: La presente revisión intenta ofrecer un marco de referencia actualizado acerca de la metodología estandarizada para la ejecución de la ELI y para interpretar/clasificar la RFP. Se formula un análisis crítico de los retos prácticos actuales en el ámbito clínico y se proponen algunos criterios operativos que pueden contribuir a mejorar el acuerdo entre evaluadores. Conclusiones: Los criterios operativos propuestos abarcan -pero no se limitan- a la morfología, la amplitud, la duración, el desfase y la redundancia. La generalización del uso de una metodología estandarizada de ELI, aunada a criterios operativos para confirmar la presencia de RFP, puede ayudar a mejorar el diagnóstico de epilepsia y de fotosensibilidad. De esta forma, la práctica clínica del EEG no solo mantendría su vigencia, sino que incluso mejoraría la atención a pacientes con epilepsia. La presente revisión en idioma español puede contribuir a homogeneizar esta práctica clínica en países hispanohablantes.

ABSTRACT Intermittent photic stimulation (IPS) is one of the most common and well-known activation methods used during routine EEG recordings. However, although it is the most straightforwardly standardized activation technique, its methodology still has significant variability, and the interpretation and classification of photoparoxysmal response (PPR) remain largely subjective. Objective: This review aims to provide an updated reference about the standardized methodology to perform the IPS procedure. Additionally, it intends to provide an update on the interpretation and classification of the PPR. A critical analysis about current practical/clinical challenges is formulated, and some potential operational criteria to improve the interrater agreement for the confirmation of PPR are proposed. Conclusions: Proposed operational criteria include, but are not limited to morphology, amplitude, duration, lag, and redundancy. The generalization of using a standardized IPS methodology and defined operational criteria to confirm the presence of PPR can help improve the diagnosis of epilepsy and photosensitivity. Thus, the clinical practice of EEG would maintain its validity, and enhance the care of patients with epilepsy. This review in Spanish can contribute to standardize this clinical practice in Spanish-speaking countries.

Los cambios climáticos: ¿pueden afectar en epilepsia? Revisión del tema con presentación de 2 casos clínicos / Climate change: can it affect epilepsy? Review of the topic with presentation of 2 clinical cases

Muchas enfermedades neurológicas son condiciones crónicas complejas influenciadas en muchos niveles por cambios en el medio ambiente. El cambio climático (CC) se refiere a la gama más amplia de cambios locales, regionales y globales en los patrones climáticos promedio, impulsados principalmente, en los últimos 100 años, por actividades antropogénicas. Diversas variables climáticas se asocian con una mayor frecuencia de convulsiones en personas con epilepsia. Es probable que los riesgos se vean modificados por muchos factores, que van desde la variación genética individual y la función del canal dependiente de la temperatura, hasta la calidad de la vivienda y las cadenas de suministro globales. Los diferentes tipos de epilepsia parecen tener una distinta susceptibilidad a las influencias estacionales. El aumento de la temperatura corporal, ya sea en el contexto de la fiebre o no, tiene un papel crítico en el umbral convulsivo. Es probable que los vínculos entre el cambio climático y la epilepsia sean multifactoriales, complejos y, a menudo, indirectos, lo que dificulta las predicciones. Actualmente necesitamos más datos sobre los posibles riesgos en enfermedades; entre ellas la epilepsia. Se presentan 2 casos clínicos que refieren cambios en la frecuencia de sus crisis en relación a las altas temperaturas registradas.

Many neurological diseases are complex chronic conditions influenced on many levels by changes in the environment. Climate change refers to the widest range of local, regional, and global changes in average weather patterns, driven primarily, over the past 100 years, by anthropogenic activities. Various climatic variables are associated with an increased frequency of seizures in people with epilepsy. Risks are likely to be modified by many factors, ranging from individual genetic variation and temperature-dependent channel function, to housing quality and global supply chains. Different types of epilepsy appear to have different susceptibility to seasonal influences. Increased body temperature, whether in the context of fever or not, plays a critical role in the seizure threshold. The links between climate change and epilepsy are likely to be multifactorial, complex, and often indirect, making predictions difficult. We currently need more data on the possible risks of disease; among them epilepsy. We present 2 clinical cases that refer to changes in the frequency of their seizures in relation to the high temperatures recorded.

An essay on the Charcot and Richer hysteria: from charcoal drawings to cell phones / Um ensaio sobre a histeria de Charcot e Richer: de desenhos em carvão aos telefones celulares

Abstract Hysteria, previously also known as the disease of the womb, has moved from being a woman's illness through the medieval times' stigma of demonic possession, to the modern concept of a functional neurological disorder. Interestingly to the present assay, Charcot (1825-1893) and Richer (1849-1933) described, in their 1887 work Les Démoniaques dans l'art, by means of iconography, semiological aspects of the so-called Grande Attaque Hystérique, which resembles features of psychogenic nonepileptic seizures emulating grand mal epileptic seizures. The aim of the present assay is to describe how those charcoal iconographic representations evolved through history and are nowadays portrayed in videos recorded at epilepsy monitoring units and patients' cell phones.

Resumo Histeria, previamente também conhecida como a doença do útero, passou de uma doença feminina, pelo estigma de possessão demoníaca ao longo dos tempos medievais, até o conceito moderno de um distúrbio neurológico funcional. Curiosamente para o presente ensaio, Charcot (1825-1893) e Richer (1849-1933) descreveram, em sua obra Les Démoniaques dans l'art, de 1887, por meio da iconografia, aspectos semiológicos do chamado Grande Attaque Hystérique, que se assemelha às características de crises não epilépticas psicogênicas que emulam crises epilépticas do tipo grande mal. O objetivo deste ensaio é descrever como essas representações iconográficas evoluíram ao longo da história e são retratadas nos dias de hoje em vídeos gravados em unidades de monitoramento de epilepsia e nos celulares de pacientes.

Comparison of Premature Ejaculation in Men with Focal Epilepsy and Generalized Tonic-Clonic Epilepsy / Comparação da ejaculação precoce em homens com Epilepsia Focal e Epilepsia Tônico-Clônica Generalizada

Introduction premature ejaculation (PE) is one of the most common sexual disorders in men. Objectives Considering the importance of sexual health in men, especially patients with epilepsy, this study was conducted with the aim of comparing premature ejaculation in men with focal epilepsy and generalized tonic-clonic seizure (GTCS). Methods In this cross-sectional and observational study, patients with epilepsy were included in the study. The examined patients were examined by psychiatrists and neurologists, and sampling was done according to the entry and exit criteria. The total sample size was 200 people, including 100 patients with focal epilepsy and 100 patients with GTCS. The tools used included demographic profile form, Men Sexual Health Questionnaire (MSHQ), Sexual Quality of Life-Men (SQOL-M), and Premature Ejaculation Diagnostic Tool (PEDT). The study was conducted to include patients referred to specialized clinics and hospitals and who had the necessary conditions to participate in the study. Considering that all the patients were male, the questioning was done by a male researcher. Then, the extracted data were entered into SPSS statistical software. Results Result showed, the M(SD) age of the patients in the focal epilepsy group was equal to 30.18(3.85). M(SD) score of MSHQ tool was equal to 51.81 (11.98), SQOL-M tool was equal to 34.75 (9.36) and PEDT tool was equal to 8.63 (4.79). In this study, although the M(SD) of the PE score in the focal epilepsy group was reported to be 9.17 (4.49) higher than that of the GTCS group with a rate of 8.09 (5.04), but this difference was not significant. also, the findings showed that there was a significant relationship between the status of the PEDT score, the status of the SQOL-M score, and the MSH score (p < 0.05). MSHQ score and SQOL-M score were reported to be lower in patients with PE disorder. Conclusion According to the findings, the prevalence of sexual disorders including PE in both groups of patients with epilepsy is significant. For this reason, it is necessary to carry out pharmacological and non-pharmacological interventions to reduce the rate of PE in these patients.

Introdução A ejaculação precoce (EP) é um dos distúrbios sexuais mais comuns em homens. Objetivos Considerando a importância da saúde sexual em homens especialmente pacientes com epilepsia este estudo foi conduzido visando comparar a ejaculação precoce em homens com epilepsia focal e crise tônico-clônica generalizada (CTCG). Métodos Neste estudo transversal e observacional pacientes com epilepsia foram incluídos no estudo. Os pacientes examinados foram examinados por psiquiatras e neurologistas e a amostragem foi feita conforme os critérios de entrada e saída. O tamanho total da amostra foi de 200 pessoas incluindo 100 pacientes com epilepsia focal e 100 pacientes com CTCG. As ferramentas utilizadas incluíram formulário de perfil demográfico Questionário de Saúde Sexual Masculina (MSHQ) Qualidade de Vida Sexual-Masculina (SQOL-M) e Ferramenta de Diagnóstico de Ejaculação Precoce (PEDT). O estudo foi conduzido de forma a incluir os pacientes encaminhados para clínicas e hospitais especializados e que tivessem as condições necessárias para participar do estudo. Considerando que todos os pacientes eram do sexo masculino o questionamento foi feito por um pesquisador do sexo masculino. Em seguida os dados extraídos foram inseridos no software estatístico SPSS. Resultados Os resultados mostraram que a idade M(DP) dos pacientes no grupo de epilepsia focal foi igual a 30.18 (3.85). A pontuação M(DP) da ferramenta MSHQ foi igual a 51.81 (11.98)a ferramenta SQOL-M foi igual a 34.75 (9.36) e a ferramenta PEDT foi igual a 8.63 (4.79). Neste estudo embora a M(DP) da pontuação PE no grupo de epilepsia focal tenha sido relatada como 9.17 (4.49) maior do que a do grupo GTCS com uma taxa de 8.09 (5.04) mas essa diferença não foi significativa. Além disso os resultados mostraram que houve uma relação significativa entre o status da pontuação PEDT o status da pontuação SQOL-M e a pontuação MSH (p < 0.05). A pontuação MSHQ e a pontuação SQOL-M foram relatadas como sendo menores em pacientes com transtorno de EP. Conclusão Segundo as descobertas a prevalência de transtornos sexuais incluindo EP em ambos os grupos de pacientes com epilepsia é significativa. Por esse motivo é necessário realizar intervenções farmacológicas e não farmacológicas para reduzir a taxa de EP nesses pacientes.

Association of hyperventilation-induced heart rate variability and sudden unexpected death in epilepsy in drug-resistant epilepsy / Associação da variabilidade da frequência cardíaca induzida pela hiperventilação e morte súbita inesperada na epilepsia refratária

Abstract Background Within the general epilepsy population, the incidence of Sudden Unexpected Death in Epilepsy (SUDEP) ranges from approximately 0.35 to 2.3 per 1,000 individuals per year. Objective We aimed to evaluate the relationship between SUDEP risk factors and heart rate variability (HRV) parameters as a potential biomarker of SUDEP in patients with drug-resistant epilepsy (DRE). Methods There were 52 patients diagnosed with DRE and under follow-up, and controls including 45 healthy subjects, included in the study. Hyperventilation-induced HRV (HRVHV) parameters, including the standard deviation of all RR intervals (SDRR), mean heart rate (HR), root mean squares of successive differences (RMSSD), SD of mean NN intervals recordings (SDANN), and HRV triangular index, were assessed during resting. To predict the risk of SUDEP, the relationship between HRV parameters and SUDEP risks was evaluated using the Risk Assessment for Sudden Death in Epilepsy (SUDEP-7) Risk Inventory. Results No statistically significant difference was found in sympathetic skin response (SSR) latency and amplitudes between the patient and control groups. In comparing healthy control subjects with patients experiencing DRE, we observed significant decreases in SDRRHV and hyperventilation-induced RMSSD (RMSSDHV) values, specifically within HRVHV. Notably, a significant correlation emerged concerning the RMSSDHV values (p < 0.01), when examining the correlation between the SUDEP-7 inventory and HRVHV parameters. Conclusion This correlation between RMSSDHV and the SUDEP-7 Risk Inventory in patients with DRE represents a novel and consequential finding, suggesting its potential as an indicator of SUDEP risk.

Resumo Antecedentes Na população geral com epilepsia, a incidência de morte súbita inesperada na epilepsia (SUDEP) varia de aproximadamente 0,35 a 2,3 por 1.000 indivíduos por ano. Objetivo Nosso objetivo foi avaliar a relação entre os fatores de risco de SUDEP e os parâmetros de variabilidade da frequência cardíaca (VFC) como um possível biomarcador de SUDEP em pacientes com epilepsia refratária (ER). Métodos O estudo incluiu 52 pacientes diagnosticados com ER e em acompanhamento e 45 indivíduos saudáveis como controles. Os parâmetros de VFC induzidos por hiperventilação (VFCHV), incluindo o desvio padrão de todos os intervalos RR (SDRR), frequência cardíaca (FC) média, raiz quadrada média das diferenças sucessivas (RMSSD), DP dos registros de intervalos NN médios (SDANN) e índice triangular de VFC, foram avaliados durante o repouso. Para prever o risco de SUDEP, a relação entre os parâmetros de VFC e os riscos de SUDEP foi avaliada usando o Inventário de Avaliação de Risco de Morte Súbita em Epilepsia (Risk Assessment for Sudden Death in Epilepsy, SUDEP-7). Resultados Não houve diferença estatisticamente significativa na latência e amplitudes da resposta simpática da pele (SSR) entre os grupos de pacientes e controles. Ao comparar indivíduos controles saudáveis a pacientes com ER, observamos reduções significativas nos valores de SDRR induzido por hiperventilação (SDRRHV) e RMSSD induzida por hiperventilação (RMSSDHV), especificamente dentro de VFCHV. Houve uma notável correlação significativa em relação aos valores de RMSSDHV (p < 0,01) entre o inventário SUDEP-7 e os parâmetros de VFCHV. Conclusão Essa correlação entre RMSSDHV e o Inventário de Risco SUDEP-7 em pacientes com ER representa um achado novo e consequente, sugerindo seu potencial como um indicador de risco de SUDEP.

Neurological outcomes in neonates treated with therapeutic hypothermia: challenges in a developing country / Desfechos neurológicos em neonatos tratados com hipotermia terapêutica: desafios em um país em desenvolvimento

Abstract Background Hypoxic-ischemic encephalopathy (HIE) affects 1.5 newborns per 1 thousand term live births. Therapeutic hypothermia (TH) does not prevent all adverse outcomes. The experience with TH is still limited in Latin America. In Rio de Janeiro, Hospital Universitário Pedro Ernesto treats neonates with HIE since 2017 using the servo-controlled system. Objective To describe the frequency of epilepsy, altered neurological exam, and neurodevelopmental delay at 12 months of age in patients treated with TH in a reference hospital in Rio de Janeiro and to evaluate the possible risk associations with clinical data and data from complementary exams. Methods We evaluated medical records from the Neonatal Intensive Care Unit hospitalization and from first evaluation recorded at 12 months of age in the High-Risk Neonate Follow-up Outpatient Sevice. Results A total of30 subjects were included in the study. We found epilepsy in 18.2% of the patients, altered neurological exam in 40.9%, and neurodevelopmental delay in 36.4%. We also found a significant relationship between altered magnetic resonance imaging scan and subsequent altered neurological exam. Our findings are in line with those of the international literature, which shows that adverse outcomes are still observed, even when TH is applied. Brazilian data shows our limited access to complementary exams. The rate of loss to follow-up was of 26.6%, probably due to the coronavirus disease 2019 (COVID-19) pandemic and to unfavorable socioeconomic conditions. More time for prospective follow-up and protocol adjustments should contribute to improve our data. Conclusion High incidences of epilepsy, altered neurological exams, and neuro- developmental delay were found, despite the use of TH. A more efficient use of resources is needed, as well as measures such as early intervention.

Resumo Antecedentes A encefalopatia hipóxico-isquêmica (EHI) afeta 1,5 a cada mil nascidos vivos a termo. A hipotermia terapêutica (HT) não previne todos os desfechos negativos. A experiência com HT ainda é limitada na América Latina. No Rio de Janeiro, o Hospital Universitário Pedro Ernesto trata neonatos com EHI desde 2017 usando o sistema servo-controlado. Objetivo Relatar a frequência de epilepsia, de alteração em exame neurológico e de atraso no desenvolvimento neuropsicomotor aos 12 meses de idade nos pacientes submetidos a HT em um hospital de referência no estado do Rio de Janeiro e avaliar as associações de risco com dados clínicos e de exames complementares. Métodos Foi feita análise de dados do prontuário médico da internação na UTI Neonatal e da primeira avaliação registrada a partir de 12 meses completos de idade no Ambulatório de Seguimento de Recém-Nascido de Alto Risco. Resultados Ao todo, 30 pacientes foram incluídos. As frequências de epilepsia, de alteração em exame neurológico e de atraso no desenvolvimento neuropsicomotor aos 12 meses de idade foram, respectivamente, de 18,2%, 40,9% e 36,4%. Observamos relação significativa entre alteração na ressonância magnética e posterior alteração no exame neurológico. Nossos achados corroboram a literatura internacional, em que desfechos desfavoráveis ocorrem mesmo aplicando-se HT. Dados brasileiros mostram a limitação da disponibilidade dos exames complementares. Houve perda de seguimento de 26,6%, provavelmente pela pandemia da doença do coronavírus 2019 (coronavirus disease 2019, COVID-19, em inglês) e condições socioeconômicas desfa- voráveis. Mais tempo de seguimento e ajustes no protocolo devem contribuir para melhorar nossos dados. Conclusão Foram encontradas elevadas incidências de epilepsia, de exame neurológico alterado e de atraso no neurodesenvolvimento, apesar da HT. Faz-se necessário uso mais eficiente dos recursos disponíveis, bem como de medidas como intervenção precoce.

Effect of levetiracetam on ocular perfusion measure with optical coherence tomography angiography / Efeito do levetiracetam na medição da pressão de perfusão ocular com angiotomografia de coerência óptica

ABSTRACT Purpose: To evaluate using optical coherence tomography angiography the macular and optic nerve head blood flow in pediatric patients with epilepsy treated with levetiracetam for at least 12 months. Methods: This study included 33 pediatric patients with epilepsy and 30 sex- and age-matched healthy volunteer children were included in the study. Optical coherence tomography angiography was used to evaluate the optic nerve head and macular perfusion changes. The mean ocular perfusion pressures were also calculated. Patients who were using multiple antiepileptic drugs or had a prior history of using different drugs were excluded. Results: The choriocapillaris flow area was significantly lower in the Study Group than in the Control Group (p=0.006). However, the foveal avascular zone and vessel densities of the macula in the superficial capillary plexus, deep capillary plexus, and optic nerve head of the study group were not significantly different from those of the control group (p>0.05). Moreover, no significant difference in means of mean ocular perfusion pressure was found between the two groups (p=0.211). No obvious correlation was found between treatment duration and optical coherence tomography angiography parameters or mean ocular perfusion pressure. Conclusion: Choroidal perfusion was reduced in children taking levetiracetam compared with that in the control group, whereas retinal perfusion was not affected in this optical coherence tomography angiography study.

RESUMO Objetivo: Avaliar através de angiotomografia de coerência óptica o fluxo sanguíneo macular e da cabeça do nervo óptico em pacientes pediátricos com epilepsia tratados com levetiracetam por pelo menos 12 meses. Método: Trinta e três pacientes pediátricos com epilepsia e 30 crianças voluntárias saudáveis pareadas por sexo e idade foram incluídos no estudo. A angiotomografia de coerência óptica foi utilizada para avaliar as alterações da perfusão da cabeça do nervo óptico e da macular. As médias das pressões de perfusão ocular também foram calculadas. Pacientes em uso de múltiplas drogas antiepilépticas ou com história prévia de uso de diferentes drogas foram excluídos do estudo. Resultado: A área do fluxo coriocapilar foi significativamente menor no Grupo Estudo do que no Grupo Controle (p=0,006). Entretanto, a zona avascular foveal e as densidades vasculares no plexo capilar superficial e profundo da região macular e na cabeça do nervo óptico não foram significativamente diferentes daquelas de olhos saudáveis (p>0,05). Também não houve diferença significativa entre os dois grupos em relação às médias da pressão de perfusão ocular (p=0,211). Nenhuma correlação aparente foi encontrada entre a duração do tratamento e os parâmetros da angiotomografia de coerência óptica ou a média da pressão de perfusão ocular. Conclusão: Em crianças usando levetiracetam, a perfusão coroidal mostrou-se reduzida em comparação ao grupo controle, enquanto a perfusão retiniana não foi afetada neste estudo com angiotomografia de coerência óptica.