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INTRODUCTION: PWE describe epileptic seizures and the postictal state with the description of experienced symptoms or through metaphorical language. For treating physicians, this metaphoric language may go unnoticed. The purpose of the study is to identify both the real and metaphorical descriptions of epileptic seizures and postictal state referred by PWE from Medellín Colombia. METHODS: It is a qualitative study that uses grounded theory applied in ten semi-structured interviews of PWE from the Metropolitan Area of Medellín, Colombia. Descriptions of epileptic seizures and the postictal state were identified. For their classification into metaphorical and literal characteristics, the texts of "The Living Metaphor" by Paul Riccoeur, "The Illness and its Metaphors - AIDS and its Metaphors" by Susan Sontag, and "Metaphors of Everyday Life" by Lakoff and Johnson were used as references. RESULTS: Ten clinical and fourteen metaphorical descriptions of epileptic seizures were identified. Regarding the postictal state, eight clinical and six metaphorical descriptions were identified. The metaphors were classified into three categories: a. external force b. depreciation and division and c. the absence of continuity (slowness, disconnection). CONCLUSION: Metaphors are frequent in the description of epileptic seizures and can be useful in seizure classification, neuroanatomical localization, and therapeutic approach. Metaphors can be an initial stage in the construction of otherness as a form of identity.

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INTRODUCTION: The Rebirth with Love Foundation from Medellín, Colombia has been active for four years. Several educative actions on epilepsy were carried out to promote a more inclusive society. The objective is to evaluate the impact of the activities carried out by the foundation. METHODS: Review of the minutes of activities. Quantification of the different activities carried out. RESULTS: The foundation shows its strengths in radio programs, training in first aid related to epileptic seizures, support group meetings, and awareness of the rights of people with epilepsy. The weakness is that there is no evaluation of these activities, with the exception of spontaneous feedback from some participants CONCLUSION: The foundation serves as a support group for people with epilepsy, although it must direct its actions with subsequent evaluations to better assess its impact.

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Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant disorder with febrile or afebrile seizures that exhibits phenotypic variability. Only a few variants in SCN1A have been previously characterized for GEFS+, in Latin American populations where studies on the genetic and phenotypic spectrum of GEFS+ are scarce. We evaluated members in two multi-generational Colombian Paisa families whose affected members present with classic GEFS+. Exome and Sanger sequencing were used to detect the causal variants in these families. In each of these families, we identified variants in SCN1A causing GEFS+ with incomplete penetrance. In Family 047, we identified a heterozygous variant (c.3530C > G; p.(Pro1177Arg)) that segregates with GEFS+ in 15 affected individuals. In Family 167, we identified a previously unreported variant (c.725A > G; p.(Gln242Arg)) that segregates with the disease in a family with four affected members. Both variants are located in a cytoplasmic loop region in SCN1A and based on our findings the variants are classified as pathogenic and likely pathogenic, respectively. Our results expand the genotypic and phenotypic spectrum associated with SCN1A variants and will aid in improving molecular diagnostics and counseling in Latin American and other populations.

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PURPOSE: The purpose of this study was to explore how neurology specialists with interest in epilepsy depict psychogenic nonepileptic seizures (PNES) and their experience of diagnosing and treating the disorder. METHODS: An art project was organized as part of the curriculum of the 14th Latin American Summer School on Epilepsy (LASSE) in São Paulo (Brazil) from February 27th to March 6th, 2020. Willing neurologists were invited to draw or paint PNES and present their professional perspective of this disorder. Grouped by common themes, the artworks were analyzed in the context of the existing literature on PNES. RESULTS: The participants created 31 paintings and drawings, 13 of which were selected to represent the recurring themes. Throughout the artworks, neurologists often portrayed PNES as masking the underlying psychological issues, but there was little emphasis on the genesis of PNES itself. The manifestation of PNES was more attributed to just emotional suppression rather than to the influence of different situational factors on a pre-established seizure scaffold. Considering the management of PNES, neurology specialists used the symbol of a labyrinth to represent the difficulties of effectively providing diagnosis and multidisciplinary care for the patients. The general outlook on PNES was associated with darkness, possibly due to limited understanding of the disorder's nature and the unavailability of effective treatment options. CONCLUSION: Our study shows that art projects can be useful to better grasp neurology specialists' opinions about a certain disorder. Further research is needed to elucidate the mechanisms of PNES and help establish multidisciplinary care.

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RESUMEN OBJETIVO: Describir las características clínicas, electroencefalográficas, imagenológicas y etiológicas de niños y adolescentes mayores de un mes de vida y menores de 14 años, con diagnóstico de estado epiléptico (EE), atendidos entre enero del 2005 y diciembre del 2015 en el Hospital Universitario San Vicente Fundación (HUSVF) en Medellín, Colombia. MATERIALES Y MÉTODOS: Estudio descriptivo, retrospectivo. Se describieron los datos clínicos, demográficos, imagenológicos y etiológicos de las historias clínicas recolectadas en el periodo mencionado. Se incluyeron pacientes con edad ≤14 años, excepto los neonatos. Para el análisis de los datos se utilizó el programa estadístico IBM SPSS Statistics 21,0. RESULTADOS: Se obtuvieron 234 registros, correspondientes a 348 episodios de EE. La edad promedio de presentación fue de 3,2 años (± 2,7 DE). La presentación clínica más frecuente fue la convulsión tónico-clónica generalizada, seguida por la convulsión focal motora. Existió el antecedente personal de epilepsia en el 50,9 %. Las principales etiologías fueron fiebre (60,6 %), malformaciones del sistema nervioso central (32,6 %) y suspensión de anticonvulsivantes (13 °/o). Los hallazgos imagenológicos más frecuentes fueron la hidrocefalia y las malformaciones del desarrollo cortical. El tratamiento de primera línea fue con benzodiacepinas, seguido por fenitoína y fenobarbital. El 9 °% requirieron medicamentos de tercera línea. La mortalidad fue de 1,2 °%. CONCLUSIÓN: Los resultados encontrados fueron similares a los descritos en otras poblaciones. La etiología del EE es heterogénea. Adicionalmente, se encontró que la suspensión de medicamentos constituye una causa importante de EE en nuestra población.

SUMMARY OBJECTIVE: To describe the clinical, electroencephalographic, imaging and etiological characteristics of children and adolescents older than one month of life and under 14 years of age with a diagnosis of status epilepticus (SE) attended from January 2005 to December 2015 at San Vicente University Hospital in Medellin, Colombia. MATERIALS AND METHODS: Retrospective descriptive study. It included clinical, demographic, imaging and etiology data recorded in the clinical charts from January 2005 to December 2015. Patients under 14 years of age were included except neonates. The IBM SPSS Statistics 2.0 program was used to analyze the data. RESULTS: 234 patients with 348 episodes of SE were included. The average age at presentation was 3.2 years (± 2.7 SD). The most common clinical presentation was generalized tonic clonic seizure followed by focal motor seizure. The antecedent of epilepsy was found in 50.9 °% of the patients. The main etiologies were fever (60.6 °%), brain malformations (32.6 °%) and the withdrawal of antiepileptic drugs (13 °%). The most frequent imaging findings were hydrocephalus and cortical developmental disorders. The first-line treatments were benzodiazepines followed by phenytoin and phenobarbital. Nine percent required third-line medications. Mortality was 1.2 °%. CONCLUSION: The results of our study were similar to those described in other populations. SE was characterized by heterogeneous etiology. It was found that the withdrawal of medications was an important cause of SE in our study.

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BACKGROUND: Sleep deprivation commonly increases seizure frequency in patients with genetic generalized epilepsy, though it is unknown whether there is an increased prevalence of sleepwalking or sleep paralysis in genetic generalized epilepsy patients. Establishing this could provide insights into the bio-mechanisms or genetic architecture of both disorders. The aim of this study was to determine the prevalence of sleepwalking and sleep paralysis in a cohort of patients with genetic generalized epilepsy and their relatives in extended families. METHODS: A structured interview based on International League Against Epilepsy (ILAE) and International Classification of Sleep Disorders (ICSD-3) criteria was applied to 67 index cases and their relatives to determine genetic generalized epilepsy subtypes and assess the occurrence of sleepwalking or sleep paralysis. Bivariate analysis was performed using chi-square and Fisher exact tests. RESULTS: The prevalence of sleepwalking and sleep paralysis was 15.3% (95% confidence interval 12.1-18.9) and 11.7% (95% confidence interval 8.7-15.3), respectively. Unusually, no sleepwalkers were found among individuals displaying epilepsy with generalized tonic-clonic seizures. Approximately a quarter of the patients had either parasomnia or genetic generalized epilepsy. Over half the genetic generalized epilepsy families had at least 1 individual with sleepwalking, and more than 40% of the families had one individual with sleep paralysis. CONCLUSION: The prevalence of sleepwalking or sleep paralysis is reported for individuals with genetic generalized epilepsy and their relatives. The co-existence of either parasomnia in the genetic generalized epilepsy patients and the co-aggregation within their families let suggest that shared heritability and pathophysiological mechanisms exist between these disorders. We hypothesize that sleepwalking/sleep paralysis and genetic generalized epilepsy could be variable expression of genes in shared pathways.

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People with epilepsy (PWE) are less physically active compared with the general population. Explanations include prejudice, overprotection, unawareness, stigma, fear of seizure induction and lack of knowledge of health professionals. At present, there is no consensus on the role of exercise in epilepsy. This paper reviews the current evidence surrounding the risks and benefits associated with physical activity (PA) in this group of patients. In the last decade, several publications indicate significant benefits in physiological and psychological health parameters, including mood and cognition, physical conditioning, social interaction, quality of life, as well as potential prevention of seizure presentation. Moreover, experimental studies suggest that PA provides mechanisms of neuronal protection, related to biochemical and structural changes including release of ß-endorphins and steroids, which may exert an inhibitory effect on the occurrence of abnormal electrical activity. Epileptic discharges can decrease or disappear during exercise, which may translate into reduced seizure recurrence. In some patients, exercise may precipitate seizures. Available evidence suggests that PA should be encouraged in PWE in order to promote wellbeing and quality of life. There is a need for prospective randomized controlled studies that provide stronger clinical evidence before definitive recommendations can be made.

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RESUMEN La Organización Mundial de la Salud considera que la epilepsia es una prioridad de salud pública. A las personas afectadas se les restringe con frecuencia su participación en actividades físicas y deportivas, pero los estudios clínicos han demostrado un efecto benéfico de la actividad física sobre el control de las crisis epilépticas. Se describen los hallazgos desde la perspectiva de las ciencias básicas que demuestran los mecanismos reguladores del efecto del ejercicio sobre la epileptogénesis, el control de la enfermedad y de su comorbilidad psiquiátrica. Tanto las investigaciones clínicas como las básicas indican que se debería considerar la actividad física como una estrategia terapéutica complementaria en las personas con epilepsia, la cual está disponible en todas partes del mundo y a un muy bajo costo.

SUMMARY According to the World Health Organization, epilepsy is a public health priority. Persons with this disease are frequently restricted from participating in physical activities and sports. Clinical studies have shown the beneficial effects of exercise on seizure control. Results from basic research demonstrating the mechanisms of physical activity on epileptogenesis, seizure control and psychiatric comorbidity are described. Basic and clinical research indicates that physical activity should be considered a complementary therapeutic approach for persons with epilepsy, a beneficial strategy that is available worldwide at a low cost.

RESUMO A Organização Mundial da Saúde considera que a epilepsia é uma prioridade de saúde pública. Às pessoas afetadas se lhes restringe com frequência sua participação em atividades físicas e esportivas, mas os estudos clínicos há demostrado um efeito benéfico da atividade física sobre o controle das crises epilépticas. Se descrevem as descobertas desde a perspectiva das ciências básicas que demostram os mecanismos reguladores do efeito do exercício sobre a epileptogênese, o controle da doença e de sua co-morbilidade psiquiátrica. Tanto as investigações clínicas como as básicas indicam que se deveria considerar a atividade física como uma estratégia terapêutica complementária nas pessoas com epilepsia, a qual está disponível em todas partes do mundo e a um muito baixo custo.

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Las personas con epilepsia tienden a ser más sedentarias que la población general. Las causas para ello son ignorancia, prejuicio, sobreprotección, temor o vergüenza. No existe sustentación científica que oriente a una limitación del ejercicio en dichas personas. Los estudios indican que son enormes los beneficios del deporte en los individuos afectados de epilepsia. Los aspectos positivos del ejercicio son acondicionamiento físico, protección para la aparición de crisis, alivio emocional, mejores destrezas sociales, mayor adherencia al tratamiento farmacológico, prevención de la osteoporosis y mejora en la calidad de vida de los pacientes y sus familias. De manera sensata y acorde con las particularidades de cada paciente, se debe prescribir u orientar el tipo de actividad física que se va a realizar. La evidencia disponible sitúa a la actividad física y el deporte en la categoría de terapia complementaria para las personas con epilepsia, que a un bajo costo, logra grandes beneficios. El llamado es a promover estas herramientas como una indicación habitual en los pacientes con epilepsia.

People with epilepsy are prone to be sedentary compared with the general population. The causes of inactivity are ignorance, prejudice, overprotection, fear and shame. There is no scientific evidence supporting a limitation of physical exercise in persons with epilepsy. The benefits of exercise in these patients are huge. Positive aspects are: physical conditioning, prevention of seizures, emotional wellbeing, social interaction, drug treatment adherence, osteoporosis prevention and better quality of life for patients and their families. Having in mind the individual characteristics, physical exercise should be prescribed and guided. Available evidence underlies the complementary therapeutic effects of physical activity with large positive results at a low cost. Sports or regular physical activity should be a standard indication for persons with epilepsy.

As pessoas com epilepsia tendem ser mais sedentárias do que a população em geral. As causas para isto são ignorância, preconceito, sobre proteção, temor ou vergonha. Não existe sustentação científica que oriente a uma limitação do exercício em ditas pessoas. Os estudos indicam que são enormes os benefícios do esporte nos indivíduos afetados de epilepsia. Os aspectos positivos do exercício são acondicionamento físico, proteção para a aparição de crise, alívio emocional, melhores destrezas sociais, maior aderência ao tratamento farmacológico, prevenção da osteoporose e melhora na qualidade de vida dos pacientes e suas famílias. De maneira sensata e acorde com as particularidades de cada paciente, se deve prescrever ou orientar o tipo de atividade física que irá realizar A evidência disponível situa à atividade física e o esporte na categoria de terapia complementária para as pessoas com epilepsia, que a um baixo custo, consegue grandes benefícios. O chamado é a promover estas ferramentas como uma indicação habitual nos pacientes com epilepsia.

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A finales del siglo XIX la eugenesia tuvo su inicio con la teoría de la evolución. Los académicos disertaron con los avances obtenidos de sus estudios e influyeron progresivamente en la implementación de normas y leyes de higienización para mejorar la raza. Dichos principios sirvieron de base para ir decretando leyes eugenésicas y luego discriminatorias. Colombia no estuvo al margen de dicha corriente y propició leyes inmigratorias congruentes con ese pensamiento en la primera mitad del siglo XX.

With the Theory of Evolution, eugenics had its beginnings during the last decades of the 19th century. Academics discussed the results obtained from their observations, and progressively had influence on the promulgation of laws and norms related to ethnic hygiene and improvement of race. Such principles were the fundamentals to order eugenic and discriminatory laws. Colombia was not outside that discussion and developed immigration laws congruent to that thinking during the first half of the 20th century.

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