Transición de la epilepsia del niño al adulto. Dificultades en un objetivo no demorable / Transition from child to adult epilepsy. Difficulties with an objective that cannot be delayed

La atención pediátrica de un proceso crónico se ve limitada por el momento a partir del cual el seguimiento clínico y terapéutico debe continuarlo el especialista del área con dedicación al adulto. El retraso de la transición de la pediatría a la medicina del adulto puede originarse por causas familiares o del paciente, o bien por el profesional que diagnosticó la enfermedad. La primera emana de la incertidumbre ante lo desconocido, más intensa cuanto mayor ha sido la dificultad diagnóstica y terapéutica, al temer que el paciente se desestabilice. La segunda atañe al especialista pediátrico, que creó lazos de dependencia con el paciente por las dificultades del proceso, e incluso por el deseo de no perder protagonismo en el mismo. Demorar la transición genera problemas perjudiciales para el niño, pues superada la adolescencia mantendrá una nociva dependencia familiar y del pediatra, retrasando el necesario conocimiento de la propia enfermedad y de las limitaciones que pueden condicionarle, e impidiéndole desarrollar mecanismos para enfrentarse a su realidad vital. Más adelante, cuando llega el necesario paso a la medicina del adulto, aflora la inmadurez, que incrementa las dificultades por desconocer tanto la enfermedad como los signos de alarma, revelando inseguridad en las situaciones que vayan apareciendo. El problema se soluciona con un cambio lento y progresivo, que debe coordinarse en consultas mixtas atendidas por especialistas pediátricos y de adultos. En esta publicación se analiza esta problemática y se revisan las soluciones aconsejadas para su mejor desarrollo

Paediatric care of a chronic process is limited by the moment when the clinical and therapeutic follow-up must be continued by a specialist from the area for adults. The delay in the transition from paediatrics to adult medicine can be due to causes attributable to the patient or his/her relatives, or the professional who diagnosed the disease. The former arises from the uncertainty of facing the unknown, which becomes more intense when the diagnosis and treatment have been difficult, as there is a fear of upsetting the stability of the patient. The latter concerns the paediatric specialist, who created ties of dependence with the patient due to the difficulties involved in the process, and perhaps even owing to a wish to avoid playing a less important role in it. Delaying the transition gives rise to problems that are detrimental for the child, because after adolescence there will still be a harmful dependence on the family and the paediatrician, which will delay the necessary knowledge of their own illness and of the limitations that can condition them. As a result this can prevent them from developing mechanisms for coming to terms with the reality of their own life situation. Later on, when it comes to taking the necessary step into adult medicine, immaturity appears, which increases the difficulties due to a lack of knowledge of both the disease and the tell-tale signs of alarm, revealing insecurity in the different situations that arise. The problem can be solved by a slow progressive change which must be coordinated in mixed outpatient departments with the presence of specialists for both paediatric and adult patients. This publication offers an analysis of this problem and a review of the solutions recommended to implement them in the best possible way

Efficacy and tolerability of lacosamide in the concomitant treatment of 130 patients under 16 years of age with refractory epilepsy: a prospective, open-label, observational, multicenter study in Spain.

BACKGROUND: The safety and effectiveness of lacosamide, an antiepileptic drug (AED) that selectively enhances the slow inactivation of voltage-gated sodium channels without affecting rapid inactivation, has been demonstrated in randomized, double-blind, placebo-controlled trials in adults with focal epileptic seizures. Although lacosamide is approved for use in patients over 16 years of age, limited clinical experience exists for younger patients. OBJECTIVE: To assess the efficacy and tolerability of lacosamide in children with refractory epilepsy. DesignMethods: The trial was a prospective, open-label, observational, multicenter study. A total of 130 patients aged less than 16 years (range 6 months to 16 years) with refractory epilepsy who had initiated treatment with lacosamide were enrolled at 18 neuropediatric units in hospitals across Spain. Patients with a variety of etiologies were enrolled, including those with partial epilepsies and symptomatic, generalized epilepsy syndromes. Lacosamide (VIMPAT®; UCB Pharma SA, Brussels, Belgium) was primarily administered once every 12 hours as an oral solution or as an oral tablet, with an initial dose of 1-2 mg/kg/day in the majority of cases. The majority of patients were also receiving stable concomitant therapy with ≥1 other AED. Treatment response to lacosamide was determined by assessing the change in seizure frequency after 3 months of lacosamide therapy. Responders were defined as patients who achieved a seizure frequency reduction of >50%. Tolerability was assessed by the reporting of adverse effects, laboratory testing, and electroencephalography recordings. RESULTS: Lacosamide was dosed at a mean of 6.80 ± 2.39 mg/kg/day. After 3 months of lacosamide therapy, 62.3% of patients achieved a >50% reduction in seizure frequency, with complete seizure suppression being reported in 13.8% of patients. Adverse effects occurred in 39 patients (30%), but no dose-response relationship was observed in terms of these events. In ten patients, instability, difficulty walking, an inability to relate to subjective elements, and blurred vision or dizziness were reported. A total of 13 patients discontinued treatment - in five of these patients, symptom intensity remained unchanged despite dose reduction, which led to treatment discontinuation. The symptoms were markedly different in each patient, preventing determination of a causal factor(s). CONCLUSIONS: The results of this study provide preliminary evidence for the efficacy of lacosamide in children with refractory epilepsy. Further evaluation in a randomized, controlled trial is needed to validate the efficacy in this population and to fully investigate the adverse effects described here. We recommend an initial dose of 1-2 mg/kg/day, uptitrated to 6-9 mg/kg/day over 4-6 weeks.

Síndrome de Angelman y temor a andar. ¿Involución psicomotriz? / Angelman syndrome and fear of walking. Psychomotor involution?

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[Cases of video electroencephalogram: differential diagnosis in newborn infants]. / Casos de videoelectroencefalograma: diagnostico diferencial en el recien nacido.

This study addresses a number of general considerations on epilepsies and epileptic syndromes that develop in the neonatal period. The chronological limits of this stage of maturation are set out and the pathophysiology of the convulsive phenomenon during that period are briefly analysed. Furthermore, the differences that exist as a result of the incipient level of maturity of the newborn infant's central nervous system with regard to other ages, and obviously adults, are highlighted. Likewise, reference is made to the percentage values of this pathology, which even vary depending on the gestational age. The clinical expression has a personality that is very different from the other stages of maturation in children, with four predominant manifestations: subtle, tonic, clonic and myoclonic seizures, which have been universally accepted since they were first reported by Volpe. Epilepsies in the newborn infant are not sufficiently well differentiated in the different classifications of epilepsies and epileptic syndromes that have appeared in recent years, although they could well be, since they display enough significance and individuality for that to be so. Three clinical cases are reported, with the aid of video electroencephalographic findings, to illustrate some of the possible neonatal epileptic manifestations.

[A critical analysis of the new classification of epilepsies and epileptic seizures of the International League Against Epilepsy (ILAE)]. / Analisis critico de la nueva clasificacion de las epilepsias y crisis epilepticas de la Liga Internacional contra la Epilepsia.

The classification of epilepsies and epileptic syndromes currently in use dates back to the eighties. Around thirty years later, it is now time to look for new approaches that are better adapted to the numerous advances that have taken place over the years in the different areas of research on epilepsy (genetics, neuroimaging, neurophysiology, etc.). In response to repeated calls by different authors to modify the classical approaches to epilepsy, in the year 2010 the Commission on Classification and Terminology of the International League Against Epilepsy (ILAE), led by Berg, published a terminological and conceptual revision of epileptic seizures and epilepsies with recommendations regarding the direction to be followed in their classification. This article, however, has received a great deal of criticism because it proposes a radical change with the elimination of classical concepts, without maintaining the useful elements and modifying only the parts that reflect obsolete concepts in the light of current scientific evidence. Unnecessary confusion has been generated by, for example, eliminating the division between focal and generalised epilepsies, but keeping the concept of focal and generalised epileptic seizures or by proposing a classification that mixes different approaches, electroclinical criteria, aetiology, and so on. Thus, the ILAE has before it the important task of striking a balance between the different opinions that have arisen and offering a new, more moderate proposal. At this point it would do well to recall the words of Seneca, who warned of the dangers of not proceeding in that way when he said: 'everything that exceeds the bounds of moderation has an unstable foundation'.

Análisis crítico de la nueva clasificación de las epilepsias y crisis epilépticas de la Liga Internacional contra la Epilepsia / A critical analysis of the new classification of epilepsies and epileptic seizures of the International League Against Epilepsy (ILAE)

La clasificación de las epilepsias y síndromes epilépticos utilizada actualmente data de los años ochenta, por lo que, habiéndose superado la primera década del siglo actual, es preciso buscar nuevos enfoques más adaptados a los múltiples avances que han aparecido en este largo período de tiempo en las distintas áreas de investigación epileptológica (genética, neuroimagen, neurofisiología, etc.). La Comisión de Clasificación y Terminología de la Liga Internacional contra la Epilepsia (ILAE) liderada por Berg, ante la reiterada solicitud de diversos autores de modificar los enfoques clásicos de la epilepsia, publicó en el año 2010 una revisión terminológica y conceptual de las crisis epilépticas y epilepsias, recomendando la dirección a seguir en su clasificación. Sin embargo, este artículo ha suscitado una amplia contestación crítica, al proponer un cambio radical con eliminación de conceptos clásicos, sin aprovechar lo útil y modificar sólo lo que refleje un concepto obsoleto ante las evidencias científicas actuales. Se ha generado un confusionismo innecesario, eliminando, por ejemplo, la división entre epilepsias focales y generalizadas, pero manteniendo los conceptos de crisis epilépticas focales y generalizadas, o proponiendo una clasificación en la que se mezclan diversos enfoques, criterios electroclínicos, etiología, etc. La ILAE tiene una importante tarea por delante para establecer un equilibrio entre las distintas opiniones que han aparecido y ofrecer un nuevo planteamiento con mayor moderación, recordando la reflexión de Séneca, que avisaba del peligro de no hacerlo así, cuando dijo: ‘lo que rebasa el límite de la moderación pende de un punto inestable’ (AU)

The classification of epilepsies and epileptic syndromes currently in use dates back to the eighties. Around thirty years later, it is now time to look for new approaches that are better adapted to the numerous advances that have taken place over the years in the different areas of research on epilepsy (genetics, neuroimaging, neurophysiology, etc.). In response to repeated calls by different authors to modify the classical approaches to epilepsy, in the year 2010 the Commission on Classification and Terminology of the International League Against Epilepsy (ILAE), led by Berg, published a terminological and conceptual revision of epileptic seizures and epilepsies with recommendations regarding the direction to be followed in their classification. This article, however, has received a great deal of criticism because it proposes a radical change with the elimination of classical concepts, without maintaining the useful elements and modifyingonly the parts that reflect obsolete concepts in the light of current scientific evidence. Unnecessary confusion has been generated by, for example, eliminating the division between focal and generalised epilepsies, but keeping the concept of focal and generalised epileptic seizures or by proposing a classification that mixes different approaches, electroclinical criteria, aetiology, and so on. Thus, the ILAE has before it the important task of striking a balance between the different opinions that have arisen and offering a new, more moderate proposal. At this point it would do well to recall the words of Seneca, who warned of the dangers of not proceeding in that way when he said: ‘everything that exceeds the bounds of moderation has an unstable foundation’ (AU)

Casos de videoelectroencefalograma: diagnóstico diferencial en el recién nacido / Cases of video electroencephalogram: differential diagnosis in newborn infants

Resumen. Se exponen las consideraciones generales sobre las epilepsias y síndromes epilépticos que se desarrollan en el período neonatal, marcando los límites cronológicos de esta etapa madurativa y analizando sucintamente la fisiopatología del fenómeno convulsivo durante él, remarcando las diferencias existentes con otras edades y obviamente con el adulto, como consecuencia del incipiente nivel madurativo del sistema nervioso central del recién nacido. Asimismo, se hace referencia a los valores porcentuales de esta patología, que varía incluso en dependencia de la edad gestacional. La expresividad clínica tiene una personalidad muy diferenciada respecto al resto de las etapas madurativas del niño, aceptándose cuatro manifestaciones predominantes: las crisis sutiles, tónicas, clónicas y mioclónicas, aceptadas universalmente desde que fueron descritas por Volpe. Las epilepsias del recién nacido no se encuentran suficientemente diferenciadas en las diferentes clasificaciones de las epilepsias y síndromes epilépticos aparecidas a lo largo de los últimos años, aunque tienen el suficiente significado e individualidad como para que así fuera. Se presentan tres casos clínicos, con soporte videoelectroencefalográfico, para ilustrar algunas de las posibles manifestaciones epilépticas neonatales (AU)

Summary. This study addresses a number of general considerations on epilepsies and epileptic syndromes that develop in the neonatal period. The chronological limits of this stage of maturation are set out and the pathophysiology of the convulsive phenomenon during that period are briefly analysed. Furthermore, the differences that exist as a result of the incipient level of maturity of the newborn infant’s central nervous system with regard to other ages, and obviously adults, are highlighted. Likewise, reference is made to the percentage values of this pathology, which even vary depending on the gestational age. The clinical expression has a personality that is very different from the other stages of maturation in children, with four predominant manifestations: subtle, tonic, clonic and myoclonic seizures, which have been universally accepted since they were first reported by Volpe. Epilepsies in the newborn infant are not sufficiently well differentiated in the different classifications of epilepsies and epileptic syndromes that have appeared in recent years, although they could well be, since they display enough significance and individuality for that to be so. Three clinical cases are reported, with the aid of video electroencephalographic findings, to illustrate some of the possible neonatal epileptic manifestations (AU)

[Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study]. / Síndrome de Lennox-Gastaut en España: estudio epidemiológico retrospectivo y descriptivo.

INTRODUCTION: Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic syndromes in childhood. It is characterised by the presence of several types of seizures, a characteristic electroencephalographic trace and its frequent association with mental retardation. There are no accurate data on the epidemiology of LGS in Spain. AIM: To describe the epidemiological profile of LGS in Spain. PATIENTS AND METHODS: We conducted a retrospective epidemiological study of a series of 331 patients with LGS from 50 Spanish hospitals. Patients were considered to be cases of LGS if they had at least two of the three types of seizures that characterise LGS (axial tonic seizures, atypical absences and atonic seizures) and displayed slow diffuse intercritical spike-wave activity (lower than 3 Hz) in the electroencephalogram in wakefulness. RESULTS: The mean age of the patients was 18.2 +/- 13.5 years. Of the total sample, 62% were males and 97% had cognitive retardation. And 54% of cases had a symptomatic aetiology. The most frequent types of seizures were axial tonic (89%), followed by the atypical absent type (84%) and atonic seizures (69%). In all, 99% of patients were treated with polytherapy, the most commonly used drugs being valproic acid, lamotrigine and topiramate. CONCLUSIONS: The results of the study are in line with those from previous analyses carried out in populations with similar characteristics. The high percentage of LGS patients with cognitive retardation in this epileptic encephalopathy results in important family and social repercussions.

Síndrome de Lennox-Gastaut en España: estudio epidemiológico retrospectivo y descriptivo / Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study

Introducción. El síndrome de Lennox-Gastaut (SLG) es uno de los síndromes epilépticos más graves de la infancia. Se aracteriza por la presencia de varios tipos de crisis, un trazado electroencefalográfico característico y la frecuente asociación de retraso mental. No existen datos precisos sobre la epidemiología del SLG en España. Objetivo. Describir el perfil epidemiológico del SLG en España. Pacientes y métodos. Estudio epidemiológico retrospectivo de una serie de 331 pacientes con SLG procedentes de 50 hospitales españoles. Se consideraron casos de SLG aquellos pacientes que tenían al menos dos de los tres tipos de crisis características del SLG (crisis tónicas axiales, ausencias atípicas y crisis atónicas) junto con actividad intercrítica difusa de punta-onda lenta (< 3 Hz) en el electroencefalograma en vigilia. Resultados. La edad media de los pacientes fue de de 18,2 ± 13,5 años. El 62% eran varones y el 97% tenía retraso cognitivo. El 54% de los casos fue de etiología sintomática. Los tipos de crisis más frecuentes fueron las tónicas axiales (89%), seguidas de las ausencias atípicas (84%) y las crisis atónicas (69%). El 99% de los pacientes fue tratado con politerapia, siendo los fármacos más frecuentemente empleados el ácido valproico, la lamotrigina y el topiramato. Conclusiones. Los resultados del estudio son consistentes con los de estudios previos realizados en poblaciones de características similares. El elevado porcentaje de pacientes con SLG con retraso cognitivo condiciona en esta encefalopatía epiléptica una gran repercusión, tanto familiar como social (AU)

Introduction. Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic syndromes in childhood. It is characterised by the presence of several types of seizures, a characteristic electroencephalographic trace and its frequent association with mental retardation. There are no accurate data on the epidemiology of LGS in Spain. Aim. To describe the epidemiological profile of LGS in Spain. Patients and methods. We conducted a retrospective epidemiological study of a series of 331 patients with LGS from 50 Spanish hospitals. Patients were considered to be cases of LGS if they had at least two of the three types of seizures that characterise LGS (axial tonic seizures, atypical absences and atonic seizures) and displayed slow diffuse intercritical spikewave activity (< 3 Hz) in the electroencephalogram in wakefulness. Results. The mean age of the patients was 18.2 ± 13.5 years. Of the total sample, 62% were males and 97% had cognitive retardation. And 54% of cases had a symptomatic aetiology. The most frequent types of seizures were axial tonic (89%), followed by the atypical absent type (84%) and atonic seizures (69%). In all, 99% of patients were treated with polytherapy, the most commonly used drugs being valproic acid, lamotrigine and topiramate. Conclusions. The results of the study are in line with those from previous analyses carried out in populations with similar characteristics. The high percentage of LGS patients with cognitive retardation in this epileptic encephalopathy results in important family and social repercussions (AU)

Síndrome de Lennox-Gastaut en España: estudio epidemiológico retrospectivo y descriptivo / Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study

Introducción. El síndrome de Lennox-Gastaut (SLG) es uno de los síndromes epilépticos más graves de la infancia. Se caracteriza por la presencia de varios tipos de crisis, un trazado electroencefalográfico característico y la frecuente asociación de retraso mental. No existen datos precisos sobre la epidemiología del SLG en España. Objetivo. Describir el perfil epidemiológico del SLG en España. Pacientes y métodos. Estudio epidemiológico retrospectivo de una serie de 331 pacientes con SLG procedentes de 50 hospitales españoles. Se consideraron casos de SLG aquellos pacientes que tenían al menos dos de los tres tipos de crisis características del SLG (crisis tónicas axiales, ausencias atípicas y crisis atónicas) junto con actividad intercrítica difusa de punta-onda lenta (< 3 Hz) en el electroencefalograma en vigilia. Resultados. La edad media de los pacientes fue de de 18,2 ± 13,5 años. El 62% eran varones y el 97% tenía retraso cognitivo. El 54% de los casos fue de etiología sintomática. Los tipos de crisis más frecuentes fueron las tónicas axiales (89%), seguidas de las ausencias atípicas (84%) y las crisis atónicas (69%). El 99% de los pacientes fue tratado con politerapia, siendo los fármacos más frecuentemente empleados el ácido valproico, la lamotrigina y el topiramato. Conclusiones. Los resultados del estudio son consistentes con los de estudios previos realizados en poblaciones de características similares. El elevado porcentaje de pacientes con SLG con retraso cognitivo condiciona en esta encefalopatía epiléptica una gran repercusión, tanto familiar como social (AU)

Introduction. Lennox-Gastaut syndrome (LGS) is one of the most severe epileptic syndromes in childhood. It is characterised by the presence of several types of seizures, a characteristic electroencephalographic trace and its frequent association with mental retardation. There are no accurate data on the epidemiology of LGS in Spain. Aim. To describe the epidemiological profile of LGS in Spain. Patients and methods. We conducted a retrospective epidemiological study of a series of 331 patients with LGS from 50 Spanish hospitals. Patients were considered to be cases of LGS if they had at least two of the three types of seizures that characterise LGS (axial tonic seizures, atypical absences and atonic seizures) and displayed slow diffuse intercritical spikewave activity (< 3 Hz) in the electroencephalogram in wakefulness. Results. The mean age of the patients was 18.2 ± 13.5 years. Of the total sample, 62% were males and 97% had cognitive retardation. And 54% of cases had a symptomatic aetiology. The most frequent types of seizures were axial tonic (89%), followed by the atypical absent type (84%) and atonic seizures (69%). In all, 99% of patients were treated with polytherapy, the most commonly used drugs being valproic acid, lamotrigine and topiramate. Conclusions. The results of the study are in line with those from previous analyses carried out in populations with similar characteristics. The high percentage of LGS patients with cognitive retardation in this epileptic encephalopathy results in important family and social repercussions (AU)

Long-term use of oxcarbazepine oral suspension in childhood epilepsy: open-label study.

Studies designed specifically for the pediatric population are needed to assess the tolerability and safety of the new antiepileptic drugs. The purpose of this study was to document the safety, ease of dosing, and acceptance of oxcarbazepine oral suspension in pediatric patients in monotherapy and polytherapy. A prospective, multicenter, open-label study was conducted at the neurology services of three pediatric university hospitals over 12 months. After obtaining signed informed consent, we enrolled a series of 62 patients with epilepsy aged between 2 months and 14 years who began oxcarbazepine treatment in monotherapy or in combination with other antiepileptic drugs to assess the seizure frequency, safety (adverse events), and acceptance of the pharmaceutical form by the patient's family. Fifty patients (80.6%) reduced seizures by at least 50%, 44 (71%) saw a reduction in seizure frequency of over 75%, and 29 (46.8%) were seizure free at the end of the study. The difference in the number of seizures before and after the study was statistically significant, both overall and by type of pathology. Adverse events occurred in four patients (6.4%) and required withdrawal of the drug in two cases (skin rash); three patients (4.8%) withdrew for inefficacy. Five patients (8.1%) withdrew from the treatment. We concluded that, in this series of patients, oxcarbazepine in oral suspension form was seen to help reduce seizure frequency, to have few side effects, and to be accepted by parents and patients.