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1.
Neurologia (Engl Ed) ; 39(3): 219-225, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38307413

RESUMO

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.


Assuntos
Epilepsia Reflexa , Transtornos do Sono-Vigília , Humanos , Criança , Masculino , Feminino , Adolescente , Estudos Transversais , Qualidade de Vida , Sono , Transtornos do Sono-Vigília/epidemiologia
2.
Rev Neurol ; 77(8): 197-201, 2023 10 16.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37807884

RESUMO

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.


Assuntos
Encefalopatias , Epilepsia , Síndromes Neurotóxicas , Humanos , Criança , Pré-Escolar , Ácido Valproico/efeitos adversos , Epilepsia/tratamento farmacológico , Encefalopatias/induzido quimicamente , Encefalopatias/diagnóstico , Encéfalo/patologia , Cerebelo/diagnóstico por imagem , Síndromes Neurotóxicas/etiologia , Anticonvulsivantes/uso terapêutico
4.
Rev Neurol ; 75(8): 225-238, 2022 10 16.
Artigo em Espanhol | MEDLINE | ID: mdl-36218253

RESUMO

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.


Assuntos
Anestésicos , Epilepsia , Ketamina , Propofol , Estado Epiléptico , Adulto , Anestésicos/uso terapêutico , Anticonvulsivantes/uso terapêutico , Benzodiazepinas/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Humanos , Ketamina/uso terapêutico , Lacosamida/uso terapêutico , Levetiracetam/uso terapêutico , Lidocaína/uso terapêutico , Fenobarbital/uso terapêutico , Fenitoína/uso terapêutico , Propofol/uso terapêutico , Convulsões/tratamento farmacológico , Estado Epiléptico/tratamento farmacológico , Estado Epiléptico/etiologia , Topiramato/uso terapêutico , Ácido Valproico
5.
Rev Neurol ; 74(11): 361-366, 2022 06 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35635362

RESUMO

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.


Assuntos
COVID-19 , Paralisia Facial , Adolescente , Adulto , COVID-19/complicações , COVID-19/epidemiologia , Criança , Nervo Facial , Paralisia Facial/epidemiologia , Paralisia Facial/etiologia , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2
6.
Arch Pediatr ; 29(4): 277-280, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35387750

RESUMO

Sleep problems are highly prevalent in patients with attention-deficit/hyperactivity disorder (ADHD). Although chronotype has been linked to behavioral problems, its specific contribution to ADHD symptoms remains unclear. We assessed the association between chronotype and sleep and behavioral problems in adolescents with ADHD between 12 and 18 years of age using questionnaires (Morningness-Eveningness Scale for Children [MESC], Strengths and Difficulties Questionnaire [SDQ], and Pediatric Sleep Questionnaire [PSQ]). Overall, 84 families (parents and adolescents) were enrolled. The intermediate chronotype was the most common in the study sample. No sex differences were detected in the proportion of morning, intermediate, and evening types. No correlation was found between MESC score and body mass index nor total PSQ score. Regarding SDQ, a significant negative correlation was found between the MESC score and hyperactivity/inattention score. We conclude that adolescents with ADHD tend to have an intermediate chronotype and eveningness is related to hyperactivity/inattention problems.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Transtornos do Sono-Vigília , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Ritmo Circadiano , Humanos , Pais , Sono , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Inquéritos e Questionários
7.
Rev Neurol ; 73(12): 403-408, 2021 11 16.
Artigo em Espanhol | MEDLINE | ID: mdl-34877642

RESUMO

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.


Assuntos
Encefalopatias/genética , Mutação , Canais de Potássio Shab/genética , Adolescente , Feminino , Expressão Gênica , Variação Genética , Humanos , Lactente , Masculino , Estudos Retrospectivos
8.
Neurologia (Engl Ed) ; 2021 Sep 10.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34518025

RESUMO

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.

12.
Rev Neurol ; 64(s03): S77-S80, 2017 May 17.
Artigo em Espanhol | MEDLINE | ID: mdl-28524225

RESUMO

Epileptic encephalopathies are defined as epileptic syndromes in which the epileptic activity per se (in the form of frequent seizures or the presence of interictal epileptiform activity) contributes to a cognitive and behavioural disorder that is more important than could be expected from the causation of the disorder. Their aetiological diagnosis is fundamental to allow an early treatment to be established. We propose a diagnostic algorithm for patients with epileptic encephalopathy with onset during the first year of life, which includes management coordinated with electroencephalographic studies, neuroimaging, and screening for metabolic and genetic disorders.


TITLE: Como debemos abordar las encefalopatias epilepticas del lactante? Conclusiones.Las encefalopatias epilepticas se definen como los sindromes epilepticos en los que la actividad epileptica per se (en forma de crisis frecuentes o presencia de actividad epileptiforme intercritica) contribuye a un trastorno cognitivo y conductual mayor de lo esperable por la etiologia del trastorno. Es fundamental un diagnostico etiologico de ellas que nos permita un tratamiento precoz. Proponemos un algoritmo diagnostico para los pacientes con encefalopatia epileptica de inicio en el primer año de vida, en el que se incluye el abordaje coordinado de estudios electroencefalograficos, neuroimagen, y cribado de trastornos metabolicos y geneticos.


Assuntos
Síndromes Epilépticas/terapia , Anticonvulsivantes/uso terapêutico , Encefalopatias Metabólicas Congênitas/complicações , Encefalopatias Metabólicas Congênitas/diagnóstico , Encefalopatias Metabólicas Congênitas/genética , Encefalopatias Metabólicas Congênitas/terapia , Criança , Transtornos do Comportamento Infantil/etiologia , Transtornos do Comportamento Infantil/prevenção & controle , Pré-Escolar , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/prevenção & controle , Terapia Combinada , Diagnóstico Diferencial , Técnicas de Diagnóstico Neurológico , Gerenciamento Clínico , Epilepsia Resistente a Medicamentos/terapia , Eletroencefalografia , Síndromes Epilépticas/complicações , Síndromes Epilépticas/diagnóstico , Síndromes Epilépticas/genética , Humanos , Lactente , Malformações do Desenvolvimento Cortical/complicações , Malformações do Desenvolvimento Cortical/diagnóstico , Malformações do Desenvolvimento Cortical/genética , Malformações do Desenvolvimento Cortical/terapia , Neuroimagem
13.
Rev Neurol ; 64(7): 299-304, 2017 Apr 01.
Artigo em Espanhol | MEDLINE | ID: mdl-28345734

RESUMO

INTRODUCTION: Restless legs syndrome (RLS) is a common neurological disease. RLS has been linked to various psychiatric disorders, especially with attention deficit hyperactivity disorder (ADHD). AIMS: The main objective was to describe the frequency of RLS in pediatric patients diagnosed with ADHD. Secondary objectives of the study were describe other sleep disorders in ADHD patients. PATIENTS AND METHODS: A multicentre prospective study was conducted in nine Spanish centers. We included children aged 6-18 years diagnosed with ADHD between January and June 2015. Data were collected by 13 researchers doctors through an interview with the parent/caregiver and with the child. To assess the degree of functioning of patients with ADHD we used the Children's Global Assessment Scale. The Sleep Disturbance Scale for Children was applied to screening sleep disorders in childhood. RESULTS: A sample of 73 patients was collected. Five patients (6.8%) met diagnostic criteria for RLS: four of them definitive and one probable. CONCLUSIONS: RLS is a frequent condition in adulthood but also in adolescence and childhood. ADHD patients have an increased risk of an RLS.


TITLE: Sindrome de piernas inquietas en pacientes diagnosticados de trastorno por deficit de atencion/hiperactividad.Introduccion. El sindrome de piernas inquietas (SPI) es una patologia neurologica comun. Se ha relacionado con diferentes trastornos psiquiatricos, especialmente con el trastorno por deficit de atencion/hiperactividad (TDAH). Objetivos. El objetivo principal fue describir la frecuencia del SPI en pacientes pediatricos diagnosticados de TDAH. Los objetivos secundarios del estudio fueron describir otros trastornos del sueño en pacientes con TDAH. Pacientes y metodos. Se realizo un estudio descriptivo prospectivo multicentrico en nueve centros españoles de niños de 6-18 años con diagnostico de TDAH entre enero y junio de 2015. Los datos fueron recogidos por 13 medicos investigadores mediante entrevista con el padre/cuidador y con el menor. Para valorar el grado de funcionamiento de los pacientes con TDAH se utilizo la Children's Global Assessment Scale. Se aplico la Sleep Disturbance Scale for Children de Bruni para el cribado del trastorno de sueño de la infancia. Resultados. Se recogio una muestra de 73 pacientes. Cinco pacientes (6,8%) cumplen criterios diagnosticos de SPI: cuatro de ellos definitivos y uno probable. Conclusiones. El SPI es una entidad frecuente en la edad adulta, pero tambien en la adolescencia y en la infancia. Los pacientes con TDAH tienen un riesgo aumentado de presentar de manera concomitante un SPI.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/complicações , Síndrome das Pernas Inquietas/complicações , Síndrome das Pernas Inquietas/epidemiologia , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Prospectivos
15.
Neurologia ; 30(9): 561-5, 2015.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-24975344

RESUMO

INTRODUCTION: Neurofibromatosis type 1 (NF1) is frequently associated with neurological disorders unrelated to neurofibromas, including sleep disorders. OBJECTIVES: This article reviews the prevalence of sleep disorders in patients with NF1, compares rates to data reported in the literature, and analyses the relationship between cognitive disorder and attention deficit hyperactivity disorder (ADHD) in these patients. MATERIAL AND METHODS: Comparative retrospective study reviewing data collected between January 2010 and January 2012 from patients diagnosed with NF1 in a tertiary hospital. RESULTS: We included 95 paediatric patients with NF1 who completed the Bruni Sleep Disturbance Scale in Children. The overall prevalence of sleep disorders was 6.3%, which was lower than in the general paediatric population. Patients with NF1 and ADHD had a higher prevalence of sleep onset and maintenance disorders (18% vs 6.3%), sleep-wake transition disorders (12.5% vs 6.3%), and daytime sleepiness (12.5% vs 7.9%); differences were not statistically significant. A statistically significant difference was found in the subdomain of nocturnal hyperhidrosis (21.9% vs 6.3%, P < 0.05). Patients with NF1 and IQ<85 showed higher prevalence rates of daytime sleepiness (20% vs 6.7%) and of sleep hyperhidrosis (11% vs 0%). CONCLUSIONS: The prevalence of sleep disorders in our cohort of patients with NF1 was no higher than in the general paediatric population, although some of these disorders are more common in cases with cognitive disorders or ADHD.


Assuntos
Neurofibromatose 1/complicações , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Criança , Pré-Escolar , Transtornos Cognitivos/complicações , Transtornos Cognitivos/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Estudos Retrospectivos
16.
An Pediatr (Barc) ; 81(5): 328.e1-9, 2014 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-24768501

RESUMO

Sleep problems are highly prevalent among our children and adolescents. Its treatment is mainly based on cognitive behavioural therapies and habit modification procedures. However, the use of sleep promoting drugs and substances is widespread without being supported by clinical guidelines. Exogenous melatonin is a neurohormone marketed as a nutritional supplement that is being increasingly used in the management of sleep problems, and with no control over its use. The consensus document is presented on the use of melatonin in sleep-onset insomnia prepared by representatives of the Spanish Paediatric Association, the Spanish Society of Sleep, the Spanish Society of Paediatric Outpatients and Primary Care, the Spanish Society for Adolescent Medicine, the Spanish Society of Child Psychiatry, and the Spanish Society of Paediatric Neurology.


Assuntos
Hipnóticos e Sedativos/uso terapêutico , Melatonina/uso terapêutico , Distúrbios do Início e da Manutenção do Sono/tratamento farmacológico , Adolescente , Criança , Humanos
17.
An Pediatr (Barc) ; 80(6): 394-8, 2014 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-24286871

RESUMO

Transient headache and neurological deficits with cerebrospinal fluid lymphocytic pleocytosis (Handl) syndrome is a rare condition of unknown origin that is characterized by episodes of severe headache, transient neurological deficits that recur over less than 3 months, and lymphocytic pleocytosis in CSF. We report the case of a 14 year-old girl who presented with headache and vomiting that lasted 4 days, later combined with a clinical presentation of confusion, with a decrease in the level of consciousness, aphasia, peripheral facial paralysis, ataxia and fever for 24 hours. CSF analysis showed pleocytosis (110 cells/ml) and proteinorrachia (87 mg/dl). Electroencephalogram in the acute time showed generalized slowing, and later a focal slowing in the left hemisphere. She suffered 7 episodes of migraine (severe headache and vomiting) in the following two months, remaining asymptomatic thereafter. This is the first pediatric case published in the literature that presents with an agitated and/or confused state. This condition must be considered in the differential diagnosis of patients with headache and acute altered level of consciousness, in order to avoid prolonged treatments or unnecessary invasive testing.


Assuntos
Confusão/etiologia , Leucocitose/complicações , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Adolescente , Eletroencefalografia , Feminino , Humanos
18.
An Pediatr (Barc) ; 79(4): 230-5, 2013 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-23582950

RESUMO

INTRODUCTION: The aetiology of attention deficit hyperactivity disorder (ADHD) is attributed to different factors: genetic, environmental, and biological (neurotransmitters: dopaminergic system). Iron is essential for the correct functioning of the dopaminergic system. Iron deficiency is common in patients with ADHD, and its correction may be useful in the treatment. OBJECTIVES: To analyse a possible relationship between iron deficiency and symptoms of inattention, hyperactivity and impulsivity in ADHD patients, and the potential benefit of iron therapy. PATIENTS AND METHODS: A prospective study was conducted on non-anaemic and cognitively normal children, newly diagnosed with ADHD, according to DSM-IV criteria. Specific scales were used (SNAP-IV, ADHS) and serum ferritin was determined. Those with ferritin ≤ 30 ng/ml were treated with ferrous sulphate (4 mg/kg/day) for 3 months, with its effect quantified being subsequently quantified. RESULTS: A total of 60 patients, with a mean age of 9.02 years (range: 6-14), were analysed. The inattentive subtype was the most frequent one (53.3%). Almost two-thirds (63.3%) had iron deficiency, which was more frequent among the inattentive group (38 vs 22, P<.02). The iron treatment was completed by 17 patients. The treatment was not effective in 7 of the 8 non-inattentive subtypes, with a partial response in the remaining one. Of the 9 inattentive subtypes: the treatment was successful in the total control of symptoms in 5 of them, partially effective in other 3, and ineffective in one patient. The probability of complete response after treatment with iron was higher in inattentive patients with ADHD (P=.02). CONCLUSIONS: Treatment with iron supplements can be an effective alternative to treat patients with ADHD and iron deficiency, especially the inattentive subtype.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Compostos Ferrosos/uso terapêutico , Deficiências de Ferro , Distúrbios do Metabolismo do Ferro/tratamento farmacológico , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Criança , Feminino , Humanos , Distúrbios do Metabolismo do Ferro/complicações , Masculino , Estudos Prospectivos
19.
An Pediatr (Barc) ; 78(6): 367-73, 2013 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-23219025

RESUMO

BACKGROUND AND AIMS: The present study focuses on the epidemiology, clinical and laboratory data, and management of osteomyelitis in a pediatric third level hospital. METHODOLOGY: All cases of children under 15 years-old admitted with osteomyelitis between 2000 and 2011 were retrospectively reviewed until July 2006, then prospectively from then until 2011. RESULTS: A total of 50 patients were identified (52% males) with median age at diagnosis of 2 years. Principal onset manifestations were pain (94%), functional impairment (90%) and fever (72%). The femur (32%), fibula (28%) and calcaneus (22%) were most affected bones. Leucocytosis > 12.000/µl was found in 56%, elevated ESR > 20 mm/h in 26%, and elevated CRP > 20 mg/L in 64%. Blood culture was positive in 20%, with group A streptococcus being the most frequently isolated bacteria (11%). All diagnoses were confirmed by a (99)Tc scintigraphy bone scan. Antibiotic therapy was initially intravenously (mean time of administration: 10 days ± 3 SD), followed by oral medication (mean time of administration: 18 days ± 6 SD). Surgery was necessary in 3 patients. Evolution of all cases was excellent, despite 3 exceptions that resolved over time. CONCLUSIONS: The current short-term intravenous therapy led to shorter hospitalizations. There were no statistically significant differences between time from clinical onset or in CRP levels at discharge compared to long-term therapies prior to 2006.


Assuntos
Osteomielite , Doença Aguda , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Osteomielite/diagnóstico , Osteomielite/epidemiologia , Osteomielite/terapia , Estudos Prospectivos , Estudos Retrospectivos
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