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.

Implantación de una unidad pediátrica de daño cerebral adquirido en fase subaguda en el sistema público de salud. Características epidemiológicas, clínicas y de evolución inicial de los pacientes atendidos / Implementation of a pediatric unit of acquired brain injury in subacute phase in the public health system. Epidemiological, clinical and initial evolution characteristics of the patients attended

Introducción: El daño cerebral adquirido (DCA) se define como una lesión neurológica, acaecida de forma aguda, en algún momento de la vida provocando deficiencia o pérdida de capacidad funcional. En el año 2019 se crea un documento específico por parte del defensor del pueblo señalando la relevancia de la atención a esta entidad en la edad pediátrica. Pacientes y método: Se presenta el proceso de creación y la casuística de atención de una de las primeras unidades de atención integral al DCA en fase subaguda en edad pediátrica dentro del sistema público de salud.Resultados: Se han elaborado diferentes guías clínicas sobre el proceso de admisión y atención dentro de la unidad, tanto al paciente como a sus familiares. Se han atendido 24 pacientes ≤18 años, ingresados en la unidad de DCA en fase subaguda desde noviembre de 2019 hasta julio de 2021, 12 provenientes de la Comunidad de Madrid. La mediana de edad fue de 6,97 años. El mecanismo traumático fue el más frecuente predominando las causas iatrogénicas, seguido de la precipitación y los accidentes relacionados con vehículos. A su ingreso en la unidad, 8 mantenían un estado de mínima conciencia/vegetativo. Se requirió la colaboración de hasta 14 especialistas diferentes dada la complejidad de los pacientes. La evolución fue globalmente favorable en 23 casos, con secuelas en todos ellos. Conclusión: Es de vital importancia la creación de unidades especializadas en la atención al DCA en edad pediátrica con protocolos de actuación específicos y un trabajo coordinado trans- y multidisciplinar.(AU)

Introduction: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. Patients and method: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. Results: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. Conclusion: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.(AU)

Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española / Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

Introducción: El síndrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediátrico; de base neuroinflamatoria y origen paraneoplásico, parainfeccioso o idiopático. Actualmente no hay biomarcadores, siendo el diagnóstico clínico. El pronóstico cognitivo parece estar relacionado con el inicio temprano de la terapia inmunomoduladora.MétodoSe describen las características epidemiológicas, clínicas, terapéuticas y pronósticas a largo plazo de una cohorte de 20 pacientes españoles.ResultadosLa edad media de debut fue de 21 meses (2-59 meses). La ataxia y el opsoclonus fueron los síntomas de inicio más frecuentes y predominantes en la evolución. El tiempo medio desde los primeros síntomas hasta el diagnóstico fue de 1,1 mes. Un tumor de extirpe neuroblástica fue detectado en el 45%, realizándose resección quirúrgica en siete y quimioterapia en dos pacientes. En el estudio de líquido cefalorraquídeo se constató pleocitosis en cuatro (25%), con negatividad de anticuerpos antineuronales y bandas oligoclonales en todos los casos estudiados. En el 100% se emplearon fármacos inmunomoduladores. En nueve pacientes el tratamiento combinado inmunomodulador se inició desde el momento del diagnóstico, y en cinco el tiempo medio de implementación fue de 2,2 meses. A largo plazo, seis de 10 pacientes con seguimiento superior a cinco años presentaban secuelas cognitivas leves o moderadas; cuatro pacientes presentaron recaídas, generalmente coincidiendo con el descenso de la corticoterapia.ConclusionesEl inicio precoz de la inmunoterapia, así como de la triple terapia en los casos que lo precisaron, se relacionó con una menor frecuencia de afectación cognitiva a los dos años del debut. (AU)

Introduction: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy.MethodsWe describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients.ResultsThe mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses.ConclusionsEarly initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset. (AU)

[Implementation of a pediatric unit of acquired brain injury in subacute phase in the public health system. Epidemiological, clinical and initial evolution characteristics of the patients attended]. / Implantación de una unidad pediátrica de daño cerebral adquirido en fase subaguda en el sistema público de salud. Características epidemiológicas, clínicas y de evolución inicial de los pacientes atendidos.

INTRODUCTION: Acquired brain injury (ABI) is defined as a neurological injury, acutely occurred, at some point in life causing impairment or loss of functional capacity. In 2019, a specific document was created by the Ombudsman pointing out the relevance of attention to this entity in the pediatric age. PATIENTS AND METHOD: The process of creation and the casuistry of care of one of the first comprehensive care units for subacute ACD in pediatric age within the public health system is presented. RESULTS: Different clinical guidelines have been prepared on the admission and care process within the unit, both for patients and their relatives. Twenty-four patients ≤18 years old, admitted to the subacute phase ACD unit from November 2019 to July 2021, 12 coming from the Community of Madrid, were attended. The median age was 6.97 years. Traumatic mechanism was the most frequent, with iatrogenic causes predominating, followed by precipitation and vehicle-related accidents. On admission to the unit, 8 maintained a minimally conscious/vegetative state. The collaboration of up to 14 different specialists was required due to the complexity of the patients. The overall evolution was favorable in 23 cases, with sequelae in all of them. CONCLUSION: The creation of units specialized in pediatric ACD care with specific action protocols and coordinated trans- and multidisciplinary work is of vital importance.

Opsoclonus-myoclonus syndrome: Clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19 / Peripheral facial nerve palsy in children during the COVID-19 pandemic

Objetivos: Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos: Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados: Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión: Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.(AU)

Objectives: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. Patients and methods: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. Results: Twenty-nine patients with Bell’s palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). Conclusion: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.(AU)

Peripheral facial nerve palsy in children during the COVID-19 pandemic. / Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.

OBJECTIVES: During the COVID-19 pandemic, an increased frequency of peripheral facial nerve palsy has been described in adults and children. The etiology of the disease during this time remains unclear, since most cases occurred in patients who tested negative for SARS-CoV-2 infection. PATIENTS AND METHODS: Retrospective study of pediatric cases of facial nerve palsy treated during the first year of the pandemic in the emergency department of a children´s hospital located in one of the areas with the highest prevalence of COVID-19 in Spain. Data from this period are compared with cases from the previous three years. RESULTS: Twenty-nine patients with Bell's palsy were included. Over the previous three years combined, 24 patients presented with the same condition, a more than threefold increase. No clinical differences were found between the groups apart from the fact that fewer patients received corticosteroids during the pandemic (13.8% vs 41.6%; p = 0.022). Fourteen children underwent microbiologic testing for active SARS-CoV-2 infection (12 polymerase chain reaction, two rapid antigen test); all were negative. Thirteen patients received serologic testing, two with a positive IgG (15.3%). CONCLUSION: A substantial increase in hospital presentations for facial nerve palsy was observed among children and adolescents during the first year of the pandemic, though findings of microbiologic testing cannot confirm a direct link with SARS-CoV-2 infection in most cases. Patient characteristics did not change between the two time periods. Difficulty accessing primary-care facilities during the pandemic in Spain may have played a role in this increase.

TITLE: Parálisis facial periférica en población pediátrica durante la pandemia de la COVID-19.Objetivos. Durante la pandemia de la COVID-19 se ha descrito una mayor frecuencia de parálisis facial periférica en adultos y niños. La etiología no está clara, ya que la mayoría de los casos ocurrió en pacientes negativos en las pruebas microbiológicas para confirmar infección por el SARS-CoV-2. Pacientes y métodos. Es un estudio retrospectivo de casos pediátricos de parálisis facial periférica atendidos el primer año de la pandemia en el servicio de urgencias de un hospital pediátrico ubicado en una de las zonas con mayor prevalencia de COVID-19 en España. Los casos de este período se comparan con los casos de los tres años anteriores. Resultados. Se incluyó a 29 pacientes. En los tres años anteriores, 24 pacientes presentaron la misma enfermedad, lo que supone que los casos se triplicaron. No se encontraron diferencias entre períodos, salvo que menos pacientes recibieron corticoides durante la pandemia (13,8 frente a 41,6%; p = 0,022). Catorce niños se sometieron a pruebas microbiológicas para detectar infección activa por el SARS-CoV-2 (12 reacciones en cadena de la polimerasa y dos test rápidos de antígenos), y todas fueron negativas. En 13 pacientes se realizó serología, y dos presentaron inmunoglobulina G positiva (15,3%). Conclusión. Se observó un aumento significativo de los casos de parálisis facial periférica en niños y adolescentes durante el primer año de la pandemia, aunque las pruebas microbiológicas no pueden confirmar un vínculo directo con la infección por el SARS-CoV-2 en la mayoría de los casos. Las características de los pacientes no cambiaron entre los dos períodos. La dificultad para acceder a los centros de atención primaria durante la pandemia pudo influir en este aumento.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.

Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1) / Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome

Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos: Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos: Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados: Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0,04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones: GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena respuesta a dieta cetogénica. (AU)

Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients ith SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46 mg/dL, P = .04) and CSF/serum glucose ratio (0.4 vs. 0.48, P < .05). [...] (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.

Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos / Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients

Introducción: El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo: Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos: Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados: Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones: Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista...(AU)

Introduction: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. Aim: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. Patients and methods: Descriptive, retrospective study of ≤ 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. Results: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. Conclusions: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.(AU)

[Tuberous sclerosis complex: analysis of areas of involvement, treatment progress and translation to routine clinical practice in a cohort of paediatric patients]. / Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.

INTRODUCTION: Tuberous sclerosis complex (TSC) displays great phenotypic variability. Increasingly early diagnosis, including prenatal identification, entails the need for the paediatrician and neuropaediatrician to establish early suspicion and identification of factors that may influence prognosis and treatment. AIM: To determine the clinical criteria for early diagnosis, initial complementary tests, actions and treatments to prevent different comorbidities, so as to improve the prognosis of these patients. PATIENTS AND METHODS: Descriptive, retrospective study of = 18-year-olds with a definitive diagnosis of TSC in a tertiary hospital from 1998 to 2019. We collected variables referring to epidemiological data, multisystem involvement, complementary tests and genetics. RESULTS: Ninety-four patients were analysed. The main diagnostic reasons were epilepsy and rhabdomyomas. The frequency of occurrence of clinical criteria was determined, and neuropathological findings were the main findings, followed by cutaneous stigmata, rhabdomyomas and renal lesions. Statistical relationships were found between clinical, radiological and genetic aspects, the influence of preventive activities on the occurrence of epilepsy and the relevance of everolimus use were tested. CONCLUSIONS: Rhabdomyomas and skin stigmata in patients and parents are major diagnostic signs in infants. Tubers and subependymal nodules are statistically associated with the development of epilepsy. Early epileptic spasms, refractory to treatment in the first months, increase the risk of cognitive deficits and autism spectrum disorder. Epileptic abnormalities need to be closely monitored in the first year of life. Everolimus is an alternative treatment for several comorbidities, but its early use (< 3 years) requires further study.

TITLE: Complejo esclerosis tuberosa: análisis de los ámbitos de afectación, progreso en el tratamiento y traslación a la práctica clínica habitual en una cohorte de pacientes pediátricos.Introducción. El complejo esclerosis tuberosa (CET) presenta gran variabilidad fenotípica. El diagnóstico cada vez más precoz, incluyendo la identificación prenatal, conlleva la necesidad de establecer una sospecha e identificación temprana, por parte del pediatra y del neuropediatra, de factores que pueden influir en su pronóstico y tratamiento. Objetivo. Determinar los criterios clínicos de un diagnóstico precoz, las pruebas complementarias iniciales, las actuaciones y los tratamientos que prevengan diferentes comorbilidades, mejorando el pronóstico de estos pacientes. Pacientes y métodos. Estudio descriptivo, retrospectivo de = 18 años con diagnóstico definitivo de CET en un hospital terciario desde 1998 hasta 2019. Se recogieron variables epidemiológicas, de afectación multisistémica, pruebas complementarias y genética. Resultados. Se analizó a 94 pacientes. Los principales motivos diagnósticos fueron la epilepsia y los rabdomiomas. Se determinó la frecuencia de aparición de los criterios clínicos, y los hallazgos neuropatológicos fueron los principales, seguidos de los estigmas cutáneos, los rabdomiomas y las lesiones renales. Se comprobaron relaciones estadísticas entre aspectos clínicos, radiológicos, genéticos, la influencia de las actividades preventivas sobre la aparición de epilepsia y la relevancia del uso de everolimús. Conclusiones. Los rabdomiomas y los estigmas cutáneos en pacientes y progenitores constituyen signos diagnósticos principales en lactantes. Los túberes y los nódulos subependimarios tienen asociación estadística con el desarrollo de epilepsia. Los espasmos epilépticos en edades precoces, refractarios a tratamiento en los primeros meses, incrementan el riesgo de déficit cognitivo y trastorno del espectro autista. Es necesario monitorizar estrechamente las anomalías epilépticas en el primer año de vida. El everolimús supone una alternativa de tratamiento en varias comorbilidades, pero su uso precoz (menor de 3 años) precisa más estudios.

Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort. / Síndrome opsoclono-mioclono: características clínicas, aspectos terapéuticos y factores pronósticos en una cohorte pediátrica española.

INTRODUCTION: Opsoclonus-myoclonus-ataxia syndrome is a rare neuroinflammatory disorder with onset during childhood; aetiology may be paraneoplastic, para-infectious, or idiopathic. No biomarkers have yet been identified, and diagnosis is clinical. Better cognitive prognosis appears to be related to early onset of immunomodulatory therapy. METHODS: We describe the epidemiological, clinical, therapeutic, and long-term prognostic characteristics of a cohort of 20 Spanish patients. RESULTS: The mean age of onset was 21 months (range, 2-59). Ataxia and opsoclonus were the most frequent symptoms both at disease onset and throughout disease progression. The mean time from onset to diagnosis was 1.1 months. Neuroblast lineage tumours were detected in 45% of patients; these were treated with surgical resection in 7 cases and chemotherapy in 2. Cerebrospinal fluid analysis revealed pleocytosis in 4 cases (25%) and neither antineuronal antibodies nor oligoclonal bands were detected in any patient. Immunomodulatory drugs were used in all cases. Nine patients started combined immunomodulatory treatment at the time of diagnosis, and 5 patients after a mean of 2.2 months. In the long term, 6 of the 10 patients followed up for more than 5 years presented mild or moderate cognitive sequelae. Four patients presented relapses, generally coinciding with the decrease of corticosteroid doses. CONCLUSIONS: Early initiation of immunotherapy, as well as triple combination therapy, where needed, was associated with a lower frequency of cognitive impairment 2 years after onset.

Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos / Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment

La cefalea troclear primaria es una causa de cefalea periorbitaria descrita en adultos, poco conocida. Esta entidad puede dar lugar a un dolor muy invalidante. Además, puede asociarse a otro tipo de cefaleas, dificultando aún más su identificación. Para diagnosticar esta enfermedad es necesario que la exploración de la tróclea sea incorporada en la práctica clínica habitual del paciente con cefalea, lo cual permitirá poder establecer un tratamiento adecuado. Se presenta el caso de una paciente adolescente con diagnóstico de migraña que ingresó por un cuadro de cefalea invalidante secundaria a una cefalea troclear primaria

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache

[Immunoadsorption and plasmapheresis: possible treatments for Rasmussen's encephalitis?] / Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

TITLE: Inmunoadsorción y plasmaféresis: ¿posibilidades de tratamiento en la encefalitis de Rasmussen?

Primary trochlear headache. A periorbital pain with a specific diagnosis and treatment. / Cefalea troclear primaria. Un dolor periorbitario con diagnóstico y tratamiento específicos.

Primary trochlear headache is a little-known cause of periorbital headache described in adults. It can involve very disabling pain. In addition, it can be associated with other types of headaches, making them even more difficult to identify. To diagnose this pathology, it is necessary that the examination of the trochlea be incorporated into the usual clinical practice of the patient with headache, which will allow the establishment of an adequate treatment. The case is presented of an adolescent patient with a diagnosis of migraine, who was admitted with a disabling headache secondary to a primary trochlear headache.

[Anti-NMDA receptor encephalitis with unilateral hemispheric affectation]. / Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

TITLE: Encefalitis por anticuerpos contra el receptor de NMDA con afectacion hemisferica unilateral.

[Neurological complications in cases of bronchiolitis due to respiratory syncytial virus: febrile status and other neurological manifestations]. / Complicaciones neurologicas en casos de bronquiolitis por virus respiratorio sincitial: estado febril y otras manifestaciones neurologicas.

TITLE: Complicaciones neurologicas en casos de bronquiolitis por virus respiratorio sincitial: estado febril y otras manifestaciones neurologicas.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome. / Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1).

INTRODUCTION: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. AIMS: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. MATERIAL AND METHODS: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. RESULTS: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs. 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.