Trastornos del sueño en niños con epilepsia / Sleep disorders in children with epilepsy

Introducción: Los niños con epilepsia tienen más trastornos del sueño (TS) que la población sana. Es fundamental su diagnóstico, ya que la epilepsia y los TS tienen una relación bidireccional. Objetivo: Determinar la incidencia de TS y malos hábitos de sueño en niños con epilepsia. Método: Estudio transversal de pacientes menores de 18 años con epilepsia sobre TS, mediante la versión española de Sleep Disturbance Scale for Children (SDSC), y sobre hábitos de sueño, mediante cuestionario de elaboración propia. Resultados: La muestra incluyó 153 pacientes. El 84% de la población estudiada presentaba alterado algún aspecto del sueño. Lo más frecuente fueron las alteraciones en la transición sueño-vigilia (53%), en el inicio-mantenimiento del sueño (47,7%) y la somnolencia diurna (44,4%). Un 70% de los padres de los pacientes referían que su hijo «dormía bien», pero en este grupo se detectaron TS hasta en el 75,7%. Muchos de los pacientes tenían hábitos de sueño poco saludables, como dormirse con dispositivos electrónicos (16,3%), precisar presencia familiar para dormirse (39%) o dormir en colecho o cohabitación (23,5 y 30,5%, respectivamente). Aquellos con epilepsias generalizadas, refractarias, crisis nocturnas y discapacidad intelectual presentaron mayor probabilidad de presentar TS. En cambio, los malos hábitos de sueño fueron frecuentes independientemente de las características de la epilepsia. Conclusiones: Los TS y los malos hábitos de sueño son frecuentes en niños con epilepsia. Su tratamiento puede conllevar una mejoría en la calidad de vida del paciente y su familia, así como una mejoría en el pronóstico de la epilepsia.(AU)

Introduction: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. Objective: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. Methods: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. Results: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients’ parents reported that their child “slept well,” although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. Conclusions: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.(AU)

Sleep disorders in children with epilepsy.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.

Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases. / Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos.

INTRODUCTION: Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. CASE REPORT: We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. DISCUSSION AND CONCLUSIONS: This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement.

TITLE: Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos.Introducción. La pseudoatrofia cerebral y cerebelosa es un efecto adverso infrecuente del ácido valproico (VPA) que debemos conocer por sus implicaciones diagnósticas y terapéuticas. Caso clínico. Presentamos tres casos de niños de entre 5 y 9 años, con epilepsia y resonancia magnética craneal previa normal, que llevaban el fármaco con dosis correctas. La pseudoatrofia se manifiesta de forma subaguda con síntomas e imagen de atrofia cerebral y/o cerebelosa, reversible tras la retirada del fármaco. Discusión y conclusiones. Se trata de un tipo de encefalopatía relacionada con VPA diferente a la encefalopatía tóxica dependiente de la dosis, la encefalopatía hiperamoniémica o la relacionada con fallo hepático. En niños, cursa con deterioro cognitivo, motor, anímico y conductual, y puede acompañarse de descompensación epiléptica. La retirada del fármaco conlleva una recuperación completa clinicorradiológica, y la disminución de dosis, una mejoría.

Pseudoatrofia cerebral y cerebelosa asociada a ácido valproico. Descripción de tres casos pediátricos / Cerebral and cerebellar pseudoatrophy associated with valproic acid. Report of three pediatric cases

Introducción La pseudoatrofia cerebral y cerebelosa es un efecto adverso infrecuente del ácido valproico (VPA) que debemos conocer por sus implicaciones diagnósticas y terapéuticas. Caso clínico Presentamos tres casos de niños de entre 5 y 9 años, con epilepsia y resonancia magnética craneal previa normal, que llevaban el fármaco con dosis correctas. La pseudoatrofia se manifiesta de forma subaguda con síntomas e imagen de atrofia cerebral y/o cerebelosa, reversible tras la retirada del fármaco. Discusión y conclusiones. Se trata de un tipo de encefalopatía relacionada con VPA diferente a la encefalopatía tóxica dependiente de la dosis, la encefalopatía hiperamoniémica o la relacionada con fallo hepático. En niños, cursa con deterioro cognitivo, motor, anímico y conductual, y puede acompañarse de descompensación epiléptica. La retirada del fármaco conlleva una recuperación completa clinicorradiológica, y la disminución de dosis, una mejoría. (AU)

INTRODUCTION Cerebral and cerebellar pseudoatrophy is a rare adverse effect of valproic acid (VPA) that we need to be aware of, due to its diagnostic and therapeutic implications. CASE REPORT We report three cases of children between 5 and 9 years old, with epilepsy and previous normal brain magnetic resonance imaging, who were taking the drug at correct doses. Pseudoatrophy manifests subacutely with symptoms and images of cerebral and/or cerebellar atrophy, reversible after drug withdrawal. Discussion and conclusions. This is a type of VPA-related encephalopathy, different from dose-dependent toxic encephalopathy, hyperammonaemic encephalopathy or encephalopathy related to liver failure. In children, it causes cognitive, motor, mood and behavioral deterioration, and may be accompanied by epileptic decompensation. Withdrawing the drug leads to complete clinical-radiological recovery, and reducing the dose leads to improvement. (AU)

[The electroencephalogram: a complementary test that should not be forgotten to perform before a first seizure. Reply]. / El electroencefalograma: una prueba complementaria que no debe olvidarse realizar ante una primera crisis epiléptica. Réplica.

TITLE: El electroencefalograma: una prueba complementaria que no debe olvidarse realizar ante una primera crisis epiléptica. Réplica.

[Paediatric status epilepticus]. / Estado epiléptico pediátrico.

INTRODUCTION: Status epilepticus is defined as the situation resulting from the failure of the mechanisms responsible for terminating an epileptic seizure. In 2015, an operational concept was adopted internationally in which two times are identified: a first time, at which treatment must begin (five minutes for convulsive status, 10-15 minutes for focal and non-convulsive status); and a second time, after which there is considered to be a high risk of subsequent sequelae (30 minutes in the case of the convulsive). It occurs in 3-42/100,000 children per year, who are refractory or super-refractory in 10-40% of cases. DEVELOPMENT: This article will review the different therapeutic options for status, from early treatment at home to the different first-line (benzodiazepines), second-line (phenobarbital, valproic acid, phenytoin, levetiracetam and lacosamide) or third-line treatments, which include both pharmacological (anaesthetics, propofol, ketamine, lidocaine, topiramate, brivaracetam or perampanel) and non-pharmacological (ketogenic diet, immunomodulatory treatments or epilepsy surgery) therapies. CONCLUSIONS: Early identification and treatment of a prolonged crisis are essential to prevent progression to status. Although with fewer sequelae than in adults, status epilepticus in children represents a cause of mortality of up to 3-5%, while 25% of them will develop subsequent epilepsy, as well as a considerable percentage of neurological sequelae.

TITLE: Estado epiléptico pediátrico.Introducción. El estado epiléptico se define como la situación resultante del fallo de los mecanismos responsables de finalizar una crisis epiléptica. En 2015, se adoptó internacionalmente un concepto operativo en el que se identifican dos tiempos: un primer momento, en el que hay que comenzar un tratamiento (cinco minutos para los estados convulsivos, 10-15 minutos para los estados focales y no convulsivos); y un segundo tiempo, a partir del cual se considera que hay un riesgo elevado de secuelas posteriores (30 minutos en los convulsivos). Ocurre en 3-42/100.000 niños al año, y son refractarios o superrefractarios en el 10-40% de las ocasiones. Desarrollo. En este artículo se revisarán las diferentes opciones terapéuticas del estado, desde el tratamiento precoz domiciliario hasta los diferentes tratamientos de primera línea (benzodiacepinas), segunda línea (fenobarbital, ácido valproico, fenitoína, levetiracetam y lacosamida) o tercera línea, que incluyen tanto terapias farmacológicas (anestésicos, propofol, cetamina, lidocaína, topiramato, brivaracetam o perampanel) como no farmacológicas (dieta cetógena, tratamientos inmunomoduladores o cirugía de epilepsia). Conclusiones. Son fundamentales la identificación y el tratamiento precoz de una crisis prolongada para evitar la evolución a estado. Aunque con menores secuelas que en los adultos, el estado epiléptico en niños representa una causa de mortalidad hasta del 3-5%, al mismo tiempo que un 25% de ellos desarrollará una epilepsia posterior, así como un porcentaje considerable de secuelas neurológicas.

Estado epiléptico pediátrico / Paediatric status epilepticus

Introducción: El estado epiléptico se define como la situación resultante del fallo de los mecanismos responsables de finalizar una crisis epiléptica. En 2015, se adoptó internacionalmente un concepto operativo en el que se identifican dos tiempos: un primer momento, en el que hay que comenzar un tratamiento (cinco minutos para los estados convulsivos, 10-15 minutos para los estados focales y no convulsivos); y un segundo tiempo, a partir del cual se considera que hay un riesgo elevado de secuelas posteriores (30 minutos en los convulsivos). Ocurre en 3-42/100.000 niños al año, y son refractarios o superrefractarios en el 10-40% de las ocasiones. Desarrollo: En este artículo se revisarán las diferentes opciones terapéuticas del estado, desde el tratamiento precoz domiciliario hasta los diferentes tratamientos de primera línea (benzodiacepinas), segunda línea (fenobarbital, ácido valproico, fenitoína, levetiracetam y lacosamida) o tercera línea, que incluyen tanto terapias farmacológicas (anestésicos, propofol, cetamina, lidocaína, topiramato, brivaracetam o perampanel) como no farmacológicas (dieta cetógena, tratamientos inmunomoduladores o cirugía de epilepsia). Conclusiones: Son fundamentales la identificación y el tratamiento precoz de una crisis prolongada para evitar la evolución a estado. Aunque con menores secuelas que en los adultos, el estado epiléptico en niños representa una causa de mortalidad hasta del 3-5%, al mismo tiempo que un 25% de ellos desarrollará una epilepsia posterior, así como un porcentaje considerable de secuelas neurológicas.(AU)

Introduction: Status epilepticus is defined as the situation resulting from the failure of the mechanisms responsible for terminating an epileptic seizure. In 2015, an operational concept was adopted internationally in which two times are identified: a first time, at which treatment must begin (five minutes for convulsive status, 10-15 minutes for focal and non-convulsive status); and a second time, after which there is considered to be a high risk of subsequent sequelae (30 minutes in the case of the convulsive). It occurs in 3-42/100,000 children per year, who are refractory or super-refractory in 10-40% of cases. Development: This article will review the different therapeutic options for status, from early treatment at home to the different first-line (benzodiazepines), second-line (phenobarbital, valproic acid, phenytoin, levetiracetam and lacosamide) or third-line treatments, which include both pharmacological (anaesthetics, propofol, ketamine, lidocaine, topiramate, brivaracetam or perampanel) and non-pharmacological (ketogenic diet, immunomodulatory treatments or epilepsy surgery) therapies. Conclusions:Early identification and treatment of a prolonged crisis are essential to prevent progression to status. Although with fewer sequelae than in adults, status epilepticus in children represents a cause of mortality of up to 3-5%, while 25% of them will develop subsequent epilepsy, as well as a considerable percentage of neurological sequelae.(AU)

[Variability of the clinical expression of KCNB1 encephalopathy]. / Variabilidad de la expresión clínica de la encefalopatía KCNB1.

INTRODUCTION: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined. AIM: To describe the clinical spectrum associated with variants of KCNB1 in paediatric patients. PATIENTS AND METHODS: Retrospective study of four patients from three families with KCNB1 encephalopathy, including an analysis of the clinical and electroencephalographic features of epilepsy, associated neurological manifestations and neurodevelopmental pattern. RESULTS: In two of them, the mutation in KCNB1 was de novo; the other two, who were sisters, inherited the variant from a parent with germline mosaicism. All had mild-to-moderate intellectual disability, two patients had autistic spectrum disorder and two had attention deficit hyperactivity disorder. Only case 2 displayed alterations in the MRI brain scan: progressive cortical atrophy. Three of them developed epilepsy (cases 1-3). Case 1: onset at 9.5 months with West syndrome that was well controlled with vigabatrine and zonisamide. Case 2: onset at 13 months with West syndrome, evolutionary development of polymorphic seizures (atonic, hypermotor, dysautonomic and tonic) that were refractory to 10 antiepileptic drugs and corticosteroids. Accompanied by a movement disorder characterised by ataxia, dyskinesias and tremor. Case 3: onset at 14.5 years with atonic seizures, multifocal EEG pattern and adequate control with levetiracetam. CONCLUSIONS: KCNB1 encephalopathy has a heterogeneous natural history, mainly with respect to epilepsy, ranging from patients with refractory epilepsy to patients without any epileptic seizures. All had neurodevelopmental disorders, such as intellectual disability or autism spectrum disorder, independent of epilepsy.

TITLE: Variabilidad de la expresión clínica de la encefalopatía KCNB1.Introducción. El gen KCNB1 codifica un canal de potasio dependiente del voltaje que regula corrientes transmembrana en las neuronas piramidales. Variantes en heterocigosis se han asociado recientemente con encefalopatías epilépticas de inicio precoz y discapacidad intelectual, pero su caracterización clínica no está completamente definida. Objetivo. Describir el espectro clínico asociado con variantes de KCNB1 en pacientes pediátricos. Pacientes y métodos. Estudio retrospectivo de cuatro pacientes procedentes de tres familias con encefalopatía KCNB1, analizando características clínicas y electroencefalográficas de la epilepsia, manifestaciones neurológicas asociadas y patrón de neurodesarrollo. Resultados. En dos, la mutación en KCNB1 fue de novo; las otras dos, hermanas, heredaron la variante de un progenitor con mosaicismo germinal. Todos presentaban discapacidad intelectual leve-moderada; dos pacientes, trastorno del espectro autista; y otros dos, trastorno por déficit de atención/hiperactividad. Sólo el caso 2 mostro´ alteraciones en la resonancia magnética cerebral: atrofia cortical evolutiva. Tres desarrollaron epilepsia (casos 1-3). Caso 1: inicio a los 9,5 meses con síndrome de West bien controlado con vigabatrina y zonisamida. Caso 2: inicio a los 13 meses con síndrome de West; desarrollo evolutivo de crisis polimorfas (atónicas, hipermotoras, disautonómicas y tónicas) refractarias a 10 fármacos antiepilépticos y corticoides. Asocio´ trastorno del movimiento caracterizado por ataxia, discinesias y temblor. Caso 3: inicio a los 14,5 años con crisis atónicas, patrón multifocal en el electroencefalograma y adecuado control con levetiracetam. Conclusiones. La encefalopatía KCNB1 presenta una evolución natural heterogénea, principalmente respecto a la epilepsia, y se observan desde pacientes con epilepsia refractaria hasta pacientes sin crisis epilépticas. Todos cursaron con alteraciones del neurodesarrollo, como discapacidad intelectual o trastorno del espectro autista, de forma independiente a la epilepsia.

Variabilidad de la expresión clínica de la encefalopatía KCNB1 / Variability of the clinical expression of KCNB1 encephalopathy

Introducción: El gen KCNB1 codifica un canal de potasio dependiente del voltaje que regula corrientes transmembrana en las neuronas piramidales. Variantes en heterocigosis se han asociado recientemente con encefalopatías epilépticas de inicio precoz y discapacidad intelectual, pero su caracterización clínica no está completamente definida.Objetivo: Describir el espectro clínico asociado con variantes de KCNB1 en pacientes pediátricos. Pacientes y métodos: Estudio retrospectivo de cuatro pacientes procedentes de tres familias con encefalopatía KCNB1, analizando características clínicas y electroencefalográficas de la epilepsia, manifestaciones neurológicas asociadas y patrón de neurodesarrollo. Resultados: En dos, la mutación en KCNB1 fue de novo; las otras dos, hermanas, heredaron la variante de un progenitor con mosaicismo germinal. Todos presentaban discapacidad intelectual leve-moderada; dos pacientes, trastorno del espectro autista; y otros dos, trastorno por déficit de atención/hiperactividad. Sólo el caso 2 mostro´ alteraciones en la resonancia magnética cerebral: atrofia cortical evolutiva. Tres desarrollaron epilepsia (casos 1-3). Caso 1: inicio a los 9,5 meses con síndrome de West bien controlado con vigabatrina y zonisamida. Caso 2: inicio a los 13 meses con síndrome de West; desarrollo evolutivo de crisis polimorfas (atónicas, hipermotoras, disautonómicas y tónicas) refractarias a 10 fármacos antiepilépticos y corticoides. Asocio´ trastorno del movimiento caracterizado por ataxia, discinesias y temblor. Caso 3: inicio a los 14,5 años con crisis atónicas, patrón multifocal en el electroencefalograma y adecuado control con levetiracetam. Conclusiones: La encefalopatía KCNB1 presenta una evolución natural heterogénea, principalmente respecto a la epilepsia, y se observan desde pacientes con epilepsia refractaria hasta pacientes sin crisis epilépticas...(AU)

Introduction: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined. Aim: To describe the clinical spectrum associated with variants of KCNB1 in paediatric patients. Patients and methods. Retrospective study of four patients from three families with KCNB1 encephalopathy, including an analysis of the clinical and electroencephalographic features of epilepsy, associated neurological manifestations and neurodevelopmental pattern. Results: In two of them, the mutation in KCNB1 was de novo; the other two, who were sisters, inherited the variant from a parent with germline mosaicism. All had mild-to-moderate intellectual disability, two patients had autistic spectrum disorder and two had attention deficit hyperactivity disorder. Only case 2 displayed alterations in the MRI brain scan: progressive cortical atrophy. Three of them developed epilepsy (cases 1-3). Case 1: onset at 9.5 months with West syndrome that was well controlled with vigabatrine and zonisamide. Case 2: onset at 13 months with West syndrome, evolutionary development of polymorphic seizures (atonic, hypermotor, dysautonomic and tonic) that were refractory to 10 antiepileptic drugs and corticosteroids. Accompanied by a movement disorder characterised by ataxia, dyskinesias and tremor. Case 3: onset at 14.5 years with atonic seizures, multifocal EEG pattern and adequate control with levetiracetam.Conclusions: KCNB1 encephalopathy has a heterogeneous natural history, mainly with respect to epilepsy, ranging from patients with refractory epilepsy to patients without any epileptic seizures. All had neurodevelopmental disorders, such as intellectual disability or autism spectrum disorder, independent of epilepsy.(AU)

Sleep disorders in children with epilepsy. / Trastornos del sueño en niños con epilepsia.

INTRODUCTION: Children with epilepsy present greater prevalence of sleep disorders than the general population. Their diagnosis is essential, since epilepsy and sleep disorders have a bidirectional relationship. OBJECTIVE: Determine the incidence of sleep disorders and poor sleep habits in children with epilepsy. METHODS: We conducted a cross-sectional study of patients under 18 years of age with epilepsy, assessing sleep disorders using the Spanish-language version of the Sleep Disturbance Scale for Children (SDSC), and sleep habits using an original questionnaire. RESULTS: The sample included 153 patients. Eighty-four percent of our sample presented some type of sleep alteration. The most frequent alterations were sleep-wake transition disorders (53%), sleep initiation and maintenance disorders (47.7%), and daytime sleepiness (44.4%). In 70% of cases, the patients' parents reported that their child "slept well," although sleep disorders were detected in up to 75.7% of these patients. Many patients had poor sleep habits, such as using electronic devices in bed (16.3%), requiring the presence of a family member to fall asleep (39%), or co-sleeping or sharing a room (23.5% and 30.5%, respectively). Those with generalised epilepsy, refractory epilepsy, nocturnal seizures, and intellectual disability were more likely to present sleep disorders. In contrast, poor sleep habits were frequent regardless of seizure characteristics. CONCLUSIONS: Sleep disorders and poor sleep habits are common in children with epilepsy. Their treatment can lead to an improvement in the quality of life of the patient and his/her family, as well as an improvement in the prognosis of epilepsy.