La inserción académica y laboral como un factor asociado a la calidad de vida en pacientes con epilepsia farmacorresistente del lóbulo temporal / Academic and employment insertion as a factor related to quality of life in patients with drug-resistant temporal lobe epilepsy

Introducción: La inserción académica y laboral es uno de los problemas que más preocupan a las personas con epilepsia, pero permanece sin esclarecer su relación con la calidad de vida. Objetivo: Analizar los efectos de la inserción académica y laboral en la calidad de vida, la ansiedad, la depresión, el apoyo social y las funciones ejecutivas, así como la relación entre estas variables en pacientes con epilepsia farmacorresistente. Pacientes y métodos: Cincuenta y nueve pacientes con epilepsia farmacorresistente del lóbulo temporal fueron clasificados en dos grupos, con inserción académica o laboral (n = 25) y sin inserción (n = 34), y se les realizó una evaluación neuropsicológica. Resultados: Los pacientes con inserción presentaron una calidad de vida significativamente mayor, menor ansiedad rasgo y mayor apoyo social percibido, así como una tendencia a tener un menor porcentaje de errores y un mayor porcentaje de respuestas conceptuales que los pacientes sin inserción laboral. La inserción académica/laboral tuvo efectos indirectos en la calidad de vida a través de su relación con el apoyo social y la ansiedad rasgo. Conclusiones: Nuestros hallazgos ofrecen un modelo para entender la calidad de vida en los pacientes con epilepsia del lóbulo temporal desde una perspectiva integral del paciente y señalan el papel clave del aumento del apoyo social y de la reducción de la ansiedad asociados con la inserción académica y laboral para mejorar la calidad de vida. Estos resultados podrían favorecer la implementación de programas que promuevan la reinserción académica o laboral, considerando la relevancia de variables socioemocionales.(AU)

Introduction: Academic and employment insertion is one of the issues that most concern people with epilepsy, but little is known about its relationship with quality of life. Aim: We aimed to analyze the effects of the academic and employment insertion on quality of life, anxiety, depression, social support, and executive functions, and the relationships among these variables in patients with drug-resistant epilepsy. Patients and methods: Fifty-nine patients with drug-resistant temporal lobe epilepsy were classified into two groups: with academic or employment insertion (n = 25) and without insertion (n = 34) and underwent a neuropsychological evaluation. Results: Patients with insertion had a significantly better quality of life, lower trait anxiety, and higher social support, and tended to have a lower percentage of errors and higher percent conceptual level responses than those without insertion. Academic/employment insertion had indirect effects on quality of life through its relationship with global social support and trait anxiety. Conclusions: Our findings provide a model for understanding the quality of life in patients with temporal lobe epilepsy for an integral perspective of the patient and points out the key role of increased social support and reduced anxiety associated with academic and employment insertion to improve quality of life. These results could favor the implementation of programs that promote academic or employment reinsertion, considering the relevance of socio-emotional domains.(AU)

Academic and employment insertion as a factor related to quality of life in patients with drug-resistant temporal lobe epilepsy. / La inserción académica y laboral como un factor asociado a la calidad de vida en pacientes con epilepsia farmacorresistente del lóbulo temporal.

INTRODUCTION: Academic and employment insertion is one of the issues that most concern people with epilepsy, but little is known about its relationship with quality of life. AIM: We aimed to analyze the effects of the academic and employment insertion on quality of life, anxiety, depression, social support, and executive functions, and the relationships among these variables in patients with drug-resistant epilepsy. PATIENTS AND METHODS: Fifty-nine patients with drug-resistant temporal lobe epilepsy were classified into two groups: with academic or employment insertion (n = 25) and without insertion (n = 34) and underwent a neuropsychological evaluation. RESULTS: Patients with insertion had a significantly better quality of life, lower trait anxiety, and higher social support, and tended to have a lower percentage of errors and higher percent conceptual level responses than those without insertion. Academic/employment insertion had indirect effects on quality of life through its relationship with global social support and trait anxiety. CONCLUSIONS: Our findings provide a model for understanding the quality of life in patients with temporal lobe epilepsy for an integral perspective of the patient and points out the key role of increased social support and reduced anxiety associated with academic and employment insertion to improve quality of life. These results could favor the implementation of programs that promote academic or employment reinsertion, considering the relevance of socio-emotional domains.

TITLE: La inserción académica y laboral como un factor asociado a la calidad de vida en pacientes con epilepsia farmacorresistente del lóbulo temporal.Introducción. La inserción académica y laboral es uno de los problemas que más preocupan a las personas con epilepsia, pero permanece sin esclarecer su relación con la calidad de vida. Objetivo. Analizar los efectos de la inserción académica y laboral en la calidad de vida, la ansiedad, la depresión, el apoyo social y las funciones ejecutivas, así como la relación entre estas variables en pacientes con epilepsia farmacorresistente. Pacientes y métodos. Cincuenta y nueve pacientes con epilepsia farmacorresistente del lóbulo temporal fueron clasificados en dos grupos, con inserción académica o laboral (n = 25) y sin inserción (n = 34), y se les realizó una evaluación neuropsicológica. Resultados. Los pacientes con inserción presentaron una calidad de vida significativamente mayor, menor ansiedad rasgo y mayor apoyo social percibido, así como una tendencia a tener un menor porcentaje de errores y un mayor porcentaje de respuestas conceptuales que los pacientes sin inserción laboral. La inserción académica/laboral tuvo efectos indirectos en la calidad de vida a través de su relación con el apoyo social y la ansiedad rasgo. Conclusiones. Nuestros hallazgos ofrecen un modelo para entender la calidad de vida en los pacientes con epilepsia del lóbulo temporal desde una perspectiva integral del paciente y señalan el papel clave del aumento del apoyo social y de la reducción de la ansiedad asociados con la inserción académica y laboral para mejorar la calidad de vida. Estos resultados podrían favorecer la implementación de programas que promuevan la reinserción académica o laboral, considerando la relevancia de variables socioemocionales.

[Diagnostic challenges in epilepsy]. / Desafios diagnosticos en epilepsia.

INTRODUCTION: Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of every five patients treated for epilepsy does not really have this diagnosis, which is a high percentage bearing in mind the social and medical consequences that being diagnosed with epilepsy entails. AIMS: To summarise the most important diagnostic challenges in epilepsy, to describe possible sources of diagnostic error and to offer advice on how to avoid them. DEVELOPMENT: Epilepsy is characterised by a tendency to suffer unprovoked epileptic seizures. The greatest obstacle when it comes to diagnosing a case of epilepsy is the fact that epileptic seizures are transient phenomena that occur relatively infrequently and the physician who must carry out the diagnosis will rarely see them. Moreover, there are other clinical events, such as syncopes or non-epileptic seizures, that may be similar to epileptic seizures in appearance and, consequently, can be mistaken for them. Finally, when interpreting the two most important complementary diagnostic techniques in epileptology, the electroencephalogram and magnetic resonance imaging of the brain, the most common errors must be taken into account in order to prevent mistaken diagnoses. CONCLUSIONS: The diagnosis of epilepsy is a challenge and must be based on a detailed and specific medical record. If there are any reasonable doubts, from the outset, about the diagnosis of epilepsy or if the patient does not respond well to the antiepileptic treatment, we recommend referring the patient to a specialised centre to establish a definitive diagnosis.

TITLE: Desafios diagnosticos en epilepsia.Introduccion. Las crisis epilepticas y la epilepsia son parte de la practica clinica diaria en neurologia. No obstante, el numero de diagnosticos falsos positivos es sorprendentemente alto. Casi uno de cada cinco pacientes tratado por epilepsia en realidad no tiene ese diagnostico, un porcentaje elevado teniendo en cuenta las consecuencias sociomedicas que conlleva el diagnostico de epilepsia. Objetivos. Resumir los desafios diagnosticos mas importantes en epilepsia, describir posibles fuentes de error en el diagnostico y proporcionar consejos sobre como evitarlos. Desarrollo. La epilepsia se caracteriza por una tendencia a sufrir crisis epilepticas no provocadas. El mayor obstaculo al diagnosticar una epilepsia radica en que las crisis epilepticas son fenomenos transitorios que ocurren relativamente con poca frecuencia y el medico que realiza el diagnostico raramente llega a verlas. Ademas, existen otros eventos clinicos, como por ejemplo sincopes o crisis no epilepticas, que pueden tener una apariencia similar a las crisis epilepticas y, en consecuencia, confundirse con ellas. Finalmente, al interpretar las dos tecnicas diagnosticas complementarias mas importantes en epileptologia, el electroencefalograma y la resonancia magnetica cerebral, deben tenerse en cuenta los errores mas comunes para prevenir diagnosticos erroneos. Conclusiones. El diagnostico de una epilepsia es un reto y debe basarse en una historia clinica detallada y especifica. Si desde el inicio existen dudas razonables sobre el diagnostico de epilepsia o si el paciente no responde bien al tratamiento antiepileptico, recomendamos derivar al paciente a un centro especializado que establezca un diagnostico definitivo.

Unravelling the mysteries of sudden unexpected death in epilepsy. / Desentrañando los misterios de la muerte súbita en epilepsia.

INTRODUCTION: Sudden unexpected death in epilepsy (SUDEP) is the most frequent cause of premature death in epileptic patients. Most SUDEP events occur at night and frequently go unnoticed; the exact pathophysiological mechanisms of this phenomenon therefore remain undetermined. Nevertheless, most cases of SUDEP are attributed to an infrequent yet extremely severe complication of epileptic seizures. DEVELOPMENT: We conducted a systematic literature search on PubMed. Our review article summarises scientific evidence on the classification, pathophysiological mechanisms, risk factors, biomarkers, and prevention of SUDEP. Likewise, we propose new lines of research and critically analyse findings that are relevant to clinical practice. CONCLUSIONS: Current knowledge suggests that SUDEP is a heterogeneous phenomenon caused by multiple factors. In most cases, however, SUDEP is thought to be due to postictal cardiorespiratory failure triggered by generalised tonic-clonic seizures and ultimately leading to cardiac arrest. The underlying pathophysiological mechanism involves multiple factors, ranging from genetic predisposition to environmental factors. Risk of SUDEP is higher in young adults with uncontrolled generalised tonic-clonic seizures. However, patients apparently at lower risk may also experience SUDEP. Current research focuses on identifying genetic and neuroimaging biomarkers that may help determine which patients are at high risk for SUDEP. Antiepileptic treatment is the only preventive measure proven effective to date. Night-time monitoring together with early resuscitation may reduce the risk of SUDEP.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

OBJECTIVE: To present 2 families with maternally inherited severe epilepsy as the main symptom of mitochondrial disease due to point mutations at position 616 in the mitochondrial tRNA(Phe) (MT-TF) gene. METHODS: Histologic stainings were performed on skeletal muscle slices from the 2 index patients. Oxidative phosphorylation activity was measured by oxygraphic and spectrophotometric methods. The patients' complete mitochondrial DNA (mtDNA) and the relevant mtDNA region in maternal relatives were sequenced. RESULTS: Muscle histology showed only decreased overall COX staining, while a combined respiratory chain defect, most severely affecting complex IV, was noted in both patients' skeletal muscle. Sequencing of the mtDNA revealed in both patients a mutation at position 616 in the MT-TF gene (T>C or T>G). These mutations disrupt a base pair in the anticodon stem at a highly conserved position. They were apparently homoplasmic in both patients, and had different heteroplasmy levels in the investigated maternal relatives. CONCLUSIONS: Deleterious mutations in the mitochondrial tRNA(Phe) may solely manifest with epilepsy when segregating to homoplasmy. They may be overlooked in the absence of lactate accumulation and typical mosaic mitochondrial defects in muscle.