Biperiden for prevention of post-traumatic epilepsy: A protocol of a double-blinded placebo-controlled randomized clinical trial (BIPERIDEN trial).

BACKGROUND: Traumatic brain injury (TBI) is one of the most important causes of acquired structural epilepsy, post-traumatic epilepsy (PTE), however, efficient preventative measures and treatment are still not available to patients. Preclinical studies indicated biperiden, an anticholinergic drug, as a potential drug to modify the epileptogenic process. The main objective of this clinical trial is to evaluate the efficacy of biperiden as an antiepileptogenic agent in patients that suffered TBI. METHODS: This prospective multicenter (n = 10) interventional study will include 312 adult patients admitted to emergency care units with a diagnosis of moderate or severe TBI. Following inclusion and exclusion criteria, patients will be randomized, using block randomization, to receive double-blind treatment with placebo or biperiden for 10 days. Follow-up will occur at specific time windows up to 2 years. Main outcomes are incidence of PTE after TBI and occurrence of severe adverse events. Other outcomes include exploratory investigation of factors that might have benefits for the treatment or might influence its results, such as genetic background, clinical progression, electroencephalographic abnormalities, health-related quality of life and neuropsychological status. Analyses will be conducted following the safety, intention-to-treat and efficacy concepts. DISCUSSION: We hypothesize that biperiden treatment will be effective to prevent or mitigate the development of post-traumatic epilepsy in TBI patients. Other health measures from this population also may benefit from treatment with biperiden. TRIAL REGISTRATION: ClinicalTrials.gov, NCT04945213. Registered on June 30, 2021.

A qualitative study on factors associated with intimate partner violence in Colombia.

Intimate partner violence (IPV) is a human rights violation and a serious global public health problem. This study investigated factors associated with IPV in female survivors in Colombia. Four focus group discussions with female survivors of IPV and 15 key informant interviews with professionals from psychological, social and legal services and community leaders were conducted in Cali and Tuluá. Participant recruitment was via purposive sampling. Transcripts were analysed manually taking a social constructivist standpoint and a content analysis approach. Factors associated with IPV were divided into four themes: cultural beliefs, jealousy, alcohol abuse, and personal history of IPV. The first theme was divided into: patriarchy, gender roles, normalisation of violence, and unawareness of rights, economic dependence, and 'men own women'. The sub-themes were all inter-related and underpinned by patriarchal values. IPV was described as a sociocultural construction formed by patriarchal values ingrained in community and societal norms and individual processes. Therefore, academia, governmental and non-governmental bodies and society are urged to together, create preventative, context specific strategies for individuals, communities and societies.

A qualitative study on factors associated with intimate partner violence in Colombia

Abstract Intimate partner violence (IPV) is a human rights violation and a serious global public health problem. This study investigated factors associated with IPV in female survivors in Colombia. Four focus group discussions with female survivors of IPV and 15 key informant interviews with professionals from psychological, social and legal services and community leaders were conducted in Cali and Tuluá. Participant recruitment was via purposive sampling. Transcripts were analysed manually taking a social constructivist standpoint and a content analysis approach. Factors associated with IPV were divided into four themes: cultural beliefs, jealousy, alcohol abuse, and personal history of IPV. The first theme was divided into: patriarchy, gender roles, normalisation of violence, and unawareness of rights, economic dependence, and 'men own women'. The sub-themes were all inter-related and underpinned by patriarchal values. IPV was described as a sociocultural construction formed by patriarchal values ingrained in community and societal norms and individual processes. Therefore, academia, governmental and non-governmental bodies and society are urged to together, create preventative, context specific strategies for individuals, communities and societies.

Resumo A violência por parceiro íntimo (VPI) é uma violação dos direitos humanos e um grave problema de saúde pública global. Este estudo investigou fatores associados à VPI em mulheres sobreviventes na Colômbia. Quatro discussões de grupos focais com mulheres sobreviventes de VPI e 15 entrevistas com informantes-chave com profissionais de serviços sócio-médico-legais foram realizadas usando amostragem intencional nas cidades de Cali e Tuluá. As transcrições foram analisadas manualmente, sob um ponto de vista construtivista social e uma abordagem de análise de conteúdo. Os fatores associados à VPI foram divididos em 4 temas: crenças culturais, ciúmes, abuso de álcool e história pessoal da VPI. O primeiro tema foi dividido em: patriarcado, papéis de gênero, normalização da violência, desconhecimento de direitos, dependência econômica e 'homens possuem mulheres'. VPI foi descrita como uma construção sociocultural formada por valores patriarcais e processos individuais. A VPI é causada por uma complexa interação de diferentes fatores nos níveis do indivíduo, relacionamentos, comunidade e social. Os órgãos governamentais e não governamentais e a sociedade são instados a criar juntos estratégias preventivas e específicas no contexto.

Modelos Ecológicos del Desarrollo aplicados al consumo de drogas ilícitas: una revisión sistemática / Ecological Models of Development applied to the consumption of illicit drugs: a systematic review

Resumen El consumo de drogas ilícitas constituye un asunto de relevancia social y de salud pública. Los modelos ecológicos enriquecen la explicación de las variaciones en el consumo de sustancias ilícitas, al facilitar la inclusión de los factores individuales y del contexto en el que las personas se desenvuelven. Esta revisión sistemática tiene como objetivo identificar los conceptos sobre modelos ecológicos utilizados en la investigación sobre el consumo de drogas, cuáles son los niveles de determinación previstos y cuáles factores asociados al consumo de drogas de índole personal, familiary del contexto social amplio. A partir de 22 manuscritos incluidos en la fase final de la revisión se identificó una decena de denominaciones para los modelos ecológicos, así como niveles de determinación personal, familiar y del contexto social. Se perfilan los modelos ecológicos como estructuras conceptuales flexibles, dinámicas y con posibilidades de sustentar políticas públicas integrales con mejores resultados.

Abstract The consumption of illicit drugs is a matter of social relevance and public health. Ecological models enrich the explanation of variations in the consumption of illicit substances, by facilitating the inclusion of individual factors and the context in which people develop. This rapid review aims to identify the concepts of ecological models used in research on drug use, what are the levels of determination expected and what factors associated with the consumption of drugs of a personal, family and social nature. A dozen denominations were identified for the ecological models, from of 22 manuscripts included in the final phase of the review, as well as levels of personal, family and social context determination. Ecological models are outlined as flexible, dynamic conceptual structures with the potential to sustain comprehensive public policies with better results.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

OBJECTIVE: To present a cohort of 8 males and perform a systematic review of all published cases with a single copy of MECP2 carrying a pathogenic variant. METHODS: We reviewed medical records of males with a single copy of MECP2 carrying a pathogenic variant. We searched in Medline (Pubmed) and Embase to collect all articles which included well-characterized males with a single copy of MECP2 carrying a pathogenic or likely pathogenic variant in MECP2 (1999-2020). RESULTS: The literature search yielded a total of 3,185 publications, of which 58 were included in our systematic review. We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and macroorchidism (PPM-X). In our cohort, we met eight individuals aged 4 to 19-year-old at the last evaluation. Three MECP2-associated phenotypes were seen in male carriers of a single copy of the gene: severe neonatal encephalopathy (n = 5); X-linked intellectual deficiency 13 (n = 2); and pyramidal signs, parkinsonism, and macroorchidism (PPM-X) (n = 1). Two novel de novo variants [p.(Gly252Argfs∗7) and p.(Tyr132Cys)] were detected. CONCLUSION: In males, the MECP2 pathogenic variants can be associated with different phenotypes, including neonatal severe encephalopathy, intellectual deficiency, or late-onset parkinsonism and spasticity. The typical RS phenotype is not expected in males, except in those with Klinefelter syndrome or somatic mosaicism for MECP2.

Two decades of research towards a potential first anti-epileptic drug.

The basic mechanisms by which brain insults, such as trauma, stroke or status epilepticus produce epilepsy are not completely understood, and effective preventive measures and treatment are still not available in the clinical setting. Over the last 2 decades we have conducted several studies with animal models of epilepsy (rodents and non-human primates) and demonstrated that drugs that modify neuronal plastic processes, such as anticholinergic agents (e.g., antimuscarinic compounds), if administered soon after brain injury and over a period of 10-20 days, have the potential to modify the natural course of post-traumatic epilepsy. To that end treatment with scopolamine showed promising results as a candidate agent in both the pilocarpine and kainate models. We then showed that biperiden, yet another cholinergic antagonist acting in the muscarinic receptor, that is widely used to treat Parkinson's disease, also decreased the incidence and intensity of spontaneous epileptic seizures, delaying their appearance in the pilocarpine model of epilepsy. In other words, biperiden showed to be a potential candidate to be further investigated as an antiepileptogenic agent. Accordingly, we tested the safety of biperiden in a small group of patients (as a small phase II safety assessment) and confirmed its safety in the context of traumatic brain injury (TBI). Now, we provide information on our ongoing project to evaluate the efficacy of biperiden in preventing the development of epilepsy in patients that suffered TBI, in a double blind, randomized, placebo-controlled trial.

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

INTRODUCTION: KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. CASE REPORT: We present an additional observation of a 16-year-old male patient with a novel de novo KCNT2 likely pathogenic variant and review the five previously reported cases of de novo variants in this gene. DISCUSSION: Whole exome sequencing identified the missense variant c.725C > A p.(Thr242Asn), which was confirmed by Sanger sequencing. Our patient has a refractory stereotyped and monomorphic type of hyperkinetic focal motor seizure, similar to what is seen in frontal lobe epilepsy, occurring only during sleep. This type of seizure is not usually seen in epileptic encephalopathies.

ATP6V1B2-related epileptic encephalopathy.

ATP6V1B2 encodes a subunit of the lysosomal transmembrane proton pump necessary for adequate functioning of several acid hydrolases. De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation syndrome without cognitive involvement. Epilepsy is not observed in DDOD, is variably present in ZLS2, but is a common feature in Zimmermann-Laband syndrome 1 (ZLS1) (caused by monoallelic pathogenic variants in KCNH1) and Zimmermann-Laband syndrome-like (ZLSL) (associated with KCNK4 variants). Herein, we report a case of an infant with severe epileptic encephalopathy with microcephaly and profound developmental delay, associated with a novel de novo loss-of-function variant in ATP6V1B2, diagnosed by whole-exome sequencing. This finding expands the spectrum of ATP6V1B2-associated disorders and adds ATP6V1B2 as a new member for the growing list of early-onset epileptic encephalopathy genes. [Published with video sequence].

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction.

Non-REM Sleep Instability in Children With Primary Monosymptomatic Sleep Enuresis.

STUDY OBJECTIVES: Sleep enuresis is one of the most common sleep disturbances in childhood. Parental perception of deeper sleep in children with sleep enuresis is not confirmed by objective studies. However, evidence of disturbed sleep has been demonstrated by questionnaire, actigraphy, and polysomnographic studies, but no neurophysiological correlation with low arousability has been found. The goal of this study was to analyze the sleep microstructure of children with sleep enuresis using cyclic alternating pattern (CAP) analysis. METHODS: Forty-nine children were recruited, 27 with enuresis (19 males and 8 females, mean age 9.78 years, 2.52 standard deviation) and 22 normal control patients (11 males and 11 females, mean age 10.7 years, 3.43 standard deviation); all subjects underwent clinical evaluation followed by a full-night polysomnographic recording. Psychiatric, neurological, respiratory, and renal diseases were excluded. RESULTS: No differences in sex, age, and apnea-hypopnea index were noted in the patients with enuresis and the control patients. Sleep stage architecture in children with sleep enuresis showed a decrease in percentage of stage N3 sleep. CAP analysis showed an increase in CAP rate in stage N3 sleep and in phase A1 index during stage N3 sleep in the sleep enuresis group, but also a significant reduction of A2% and A3% and of phases A2 and A3 indexes, supporting the concept of decreased arousability in patients with sleep enuresis. The decrease of phase A2 and A3 indexes in our patients might reflect the impaired arousal threshold of children with sleep enuresis. Sleep fragmentation might result in a compensatory increase of slow wave activity (indicated by the increase of CAP rate in stage N3 sleep) and may explain the higher arousal threshold (indicated by a decrease of phase A2 and A3 indexes) linked to an increased sleep pressure. CONCLUSIONS: The findings of this study indicate the presence of a significant disruption of sleep microstructure (CAP) in children with sleep enuresis, supporting the hypothesis of a higher arousal threshold.

Epilepsy and hypothyroidism in children with Down syndrome / Epilepsia e hipotireoidismo em crianças com síndrome de down / Epilepsia e hipotiroidismo en niños con síndrome de down

Objective: This paper presents a review of epilepsy and thyroid dysfunction in children with Down syndrome and analyzes the possible association between these comorbidities. Methods: The medical records of all patients with Down syndrome treated at the Pediatric Neurology Department of Pequeno Príncipe Children’s Hospital e from January 2008 to January 2014 (72 patients) were analyzed and divided into two groups: one consisting of patients with Down syndrome and epilepsy (GROUP I), and the other of patients with Down syndrome and without epilepsy (GROUP II). The two groups were then compared with respect to the prevalence of thyroid dysfunction. The association of the mother’s age at the child’s birth and the presence of epilepsy and/or thyroid dysfunction were also tested. Results: The data showed that among children with Down syndrome there is no significant association (p=0.09) between the presence or absence of epilepsy and the presence or absence of hypothyroidism. In addition, no significant association was found between the mother’s age at the child’s birth (<35 or ≥35 years) and an increased risk of epilepsy (p=0.37) nor an increased risk of hypothyroidism (p=0.42). Conclusions: Our study found no significant association between the two comorbidities, epilepsy and thyroid dysfunctions, in people with DS, or significant relationship of each one individually with the mother’s age at the child’s birth in this population.

Objetivo: Este artigo apresenta uma revisão sobre epilepsia e disfunção tireoidiana em crianças com síndrome de Down e analisa uma possível associação entre estas duas comorbidades. Métodos: Foram analisados todos os prontuários médicos de pacientes com síndrome de Down tratados no Departamento de Neurologia Pediátrica do Hospital Infantil Pequeno Príncipe entre janeiro de 2008 e janeiro de 2014 (72 pacientes), e divididos em dois grupos: um de pacientes com síndrome de Down e epilepsia (GRUPO I) e outro de pacientes com síndrome de Down e sem epilepsia (GRUPO II). Os dois grupos foram comparados quanto à disfunção tireoidiana. A associação entre a idade materna ao nascimento da criança e a presença de epilepsia e/ou disfunção tireoidiana também foi testada. Resultados: Os dados mostram que nas crianças não há associação significativa (p=0,09) entre a presença ou ausência de epilepsia e a presença ou ausência de hipotireoidismo. Além disso, não há associação significativa entre a idade da mãe ao nascimento da criança (< 35 ou ≥ 35 anos) e aumento do risco de epilepsia (0=0,37) nem aumento do risco de hipotireoidismo (p=0,42). Conclusões: Nosso estudo não encontrou associação significativa entre as duas comorbidades, epilepsia e disfunção tireoidiana, em pessoas com síndrome de Down nem relação significativa de cada um individualmente com a idade da mãe ao nascimento da criança nesta população.

Objetivo: Este artículo presenta una revisión sobre epilepsia y disfunción tiroidea en niños con síndrome de Down y analiza una posible asociación entre estas dos comorbidades. Métodos: Fueron analizados todos los prontuarios médicos de pacientes con síndrome de Down tratados en el Departamento de Neurología Pediátrica del Hospital Infantil Pequeno Príncipe entre enero de 2008 y enero de 2014 (72 pacientes), y divididos en dos grupos: uno con pacientes con síndrome de Down y epilepsia (GRUPO I) y otro con pacientes con síndrome de Down y sin epilepsia (GRUPO II). Los dos grupos fueron comparados cuanto a la disfunción tiroidea. La asociación entre la edad materna en el nacimiento del niño y la presencia de epilepsia y/o disfunción tiroidea también fue probada. Resultados: Los datos muestran que en los niños no hay asociación significativa (p = 0,09) entre la presencia o ausencia de epilepsia y la presencia o ausencia de hipotiroidismo. Además, no hay asociación significativa entre la edad de la madre en el nacimiento del niño (< 35 ó ≥ 35 años) y aumento del riesgo de epilepsia (0=0,37) ni aumento del riesgo de hipotiroidismo (p = 0,42). Conclusiones: Nuestro estudio no encontró asociación significativa entre las dos comorbidades, epilepsia y disfunción tiroidea, en personas con síndrome de Down ni relación significativa de cada uno individualmente con la edad de la madre en el nacimiento del niño en esta población.

West syndrome: etiology and evolution of the inter-ictal eeg pattern in a cohort of 24 patients / Síndrome de West: etiologia e evolução de padrão interictal no eeg em uma coorte de 24 pacientes / Síndrome de West: etiología y evolución de estándar interictal en el eeg en una cohorte de 24 pacientes

Objective: West syndrome (WS) is the most frequent epileptic encephalopathy in the first year of life. Diagnosis requires the presence of epileptic spasms, developmental delay, and hypsarrhythmia EEG pattern. Methods: A retrospective study on the etiology and evolution of inter-ictal electroencephalographic patterns in children with West syndrome referred to the Department of Pedia- tric Neurology at the Pequeno Príncipe Children's Hospital from January 2008 to January 2014. All children underwent magnetic resonance imaging and EEG. Results: Eighteen (75%) children had spasms, and 6 (25%) had spasms and tonic seizures. MRI scans showed agenesis of the corpus callosum (1/4.17%), dysplasia in the right frontal lobe (1/4.17%), dysplasia in the left frontal and parietal lobes (1/4.17%), pachygyria associated with agenesis of the corpus callosum (1/4.17%), periventricular nodes (2/8.33%), periventricular leukomalacia (3/12.5%), cerebral atrophy (3/12.5%), and multicystic encephalomalacia (6/25%). EEG monitoring showed hypsarrhythmia in the first exam in all cases; 18 (75%) progressed to multifocal epileptiform discharges (more than three independent epileptogenic foci), and 6 (25%) developed generalized spike-wave and polyspike-wave. Conclusions: Symptomatic form is the most common in WS and most patients develop multifocal epileptiform discharges visible in EEG.

Objetivo: A síndrome de West (SW) é a encefalopatia epiléptica mais frequente no primeiro ano de vida. O diagnóstico requer a presença de espasmos epilépticos, retardo de desenvolvimento e EEG com padrão de hipsarritmia. Métodos: Estudo retrospectivo sobre a etiologia e a evolução dos padrões eletroencefalográficos interictais em crianças com síndrome de West encaminhadas para o Departamento de Neurologia Pediátrica do Hospital Pequeno Príncipe, de janeiro de 2008 a janeiro de 2014. Todas as crianças foram submetidas a exames de ressonância magnética e EEG. Resultados: Dezoito crianças (75%) tinham espasmos e 6 (25%) tinham espasmos e convulsões tônicas. As imagens por RM mostraram agenesia do corpo caloso (1/4,17%), displasia no lobo frontal direito (1/4,17%), displasia nos lobos frontal esquerdo e parietal (1/4,17%), paquigiria associada à agenesia do corpo caloso (1/4,17%), nódulos periventriculares (2/8,33%), leucomalácia periventricular (3/12,5%), atrofia cerebral (3/12,5%) e encefalomalácia multicística (6/25%). A monitoração EEG mostrou hipsarritmia no primeiro exame em todos os casos; 18 (75%) progrediram para descargas epileptiformes multifocais (mais de três focos epileptogênicos independentes) e 6 (25%) evoluíram com espícula-onda e poliespícula-onda generalizadas. Conclusões: A forma sintomática é a mais comum na SW e a maioria dos pacientes desenvolve descargas epileptiformes multifocais aparentes no EEG.

Objetivo: El síndrome de West (SW) es la encefalopatía epiléptica más frecuente en el primer año de vida. El diagnóstico requiere la presencia de espasmos epilépticos, retardo de desarrollo y EEG con estándar de hipsarritmia. Métodos: Estudio retrospectivo sobre la etiología y la evolución de los estándares electroencefalográficos interictales en niños con síndrome de West encaminados para el Departamento de Neurología Pediátrica del Hospital Infantil Pequeno Príncipe, desde enero de 2008 a enero de 2014. Todos los niños fueron sometidos a exámenes de resonancia magnética y EEG. Resultados: Dieciocho niños (75%) tenían espasmos y 6 (25%) tenían espasmos y convulsiones tónicas. Las imágenes por RM mostraron agenesia del cuerpo calloso (1/4,17%), displasia en el lóbulo frontal derecho (1/4,17%), displasia en los lóbulos frontal izquierdo y parietal (1/4,17%), paquigiria asociada a la agenesia del cuerpo calloso (1/4,17%), nódulos periventriculares (2/8,33%), leucomalacia periventricular (3/12,5%), atrofia cerebral (3/12,5%) y encefalomalacia multicística (6/25%). El monitoreo EEG mostró hipsarritmia en el primer examen en todos los casos; 18 (75%) avanzaron para descargas epileptiformes multifocales (más de tres focos epileptogénicos independientes) y 6 (25%) evolucionaron con espícula-onda y poliespícula-onda generalizadas. Conclusiones: La forma sintomática es la más común en la SW y la mayoría de los pacientes desarrolla descargas epileptiformes multifocales aparentes en el EEG.

Benign partial epilepsy of childhood with centrotemporal spikes and sleep disorders / Epilepsia parcial benigna da infância com espícula centrotemporal e transtornos do sono / Epilepsia parcial benigna de la infancia con espícula centrotemporal y trastornos del sueño

Objective: Benign partial epilepsy of childhood with centrotemporal spikes (BECTS) is an idiopathic epilepsy that occurs in healthy children with normal neurodevelopment, characterized by seizures and inter-ictal discharges that predominate during nighttime sleep. This research analyzes the prevalence of sleep disorders in patients with BECTS followed in the Department of Pediatric Neurology at the Pequeno Príncipe Children's Hospital from January 2004 to January 2014. Methods: This study is obser- vational and cross-sectional. The medical records of all children with BECTS followed in the aforementioned institution and period were analyzed, and 46 of these patients met the prerequisites to enter the study. During the investigation all children underwent neuroimaging exams (magnetic resonance or computed tomography) and digital electroencephalogram. In clinical evaluations, all patients and their parents were asked about the presence of sleep disorders. Results: To be classified as having BECTS, patients should have normal neural images and all the electroencephalographies (EEG) should have normal background activity with uni- lateral or bilateral spikes in centrotemporal or centrotemporal and parietal regions. All were being treated with antiepileptic drugs. The age of onset of seizures ranged from 62 to 145 months (mean 94.37 ± 21.2 months). Data showed that 33 (71.74%) out of 46 patients had experienced some kind of sleep disorder: insomnia (18 patients/39.13%), nocturnal enuresis (6 patients/13.04%), somnambulism (2 patients/4.35%), night terrors (1 patient/2.17%), nocturnal enuresis and night terrors (2 patients/4.35%), night terrors and somnambulism (2 patients/4.35%), insomnia and nocturnal enuresis (1 patient/2.17%) and insomnia, night terrors and somnambulism (1 patient/2.17%). Conclusions: Most children diagnosed with BECTS in our pediatric neurology service presented with comorbid sleep disorder. The results are consistent with the data collected in the literature, which show that sleep disorders are more common in children with this type of epilepsy than in those neurologically healthy.

Objetivo: A epilepsia parcial benigna da infância com espículas centrotemporais (EPCT) é uma epilepsia idiopática que ocorre em crianças saudáveis com neurodesenvolvimento normal, que se caracteriza por convulsões e descargas interictais que predominam durante o sono noturno. Esta pesquisa analisa a prevalência de transtornos do sono em pacientes com EPCT acompanhados no Departamento de Neurologia Pediátrica do Hospital Infantil Pequeno Príncipe de janeiro de 2004 a janeiro de 2014. Métodos: Este estudo é observacional e transversal. O prontuário clínico de todas as crianças com EPCT acompanhadas na instituição e no período acima mencionados foi analisado e 46 desses pacientes satisfizeram os pré-requisitos para entrar no estudo. Durante a investigação, todas as crianças foram submetidas a exames de neuroimagem (ressonância magnética ou tomografia computadorizada) e a eletroencefalograma digital. Durante as avaliações clínicas, todos os pacientes e seus pais foram perguntados sobre a presença de transtornos do sono. Resultados: Para serem classificados como portadores de EPCT, os pacientes deviam ter imagens neurais normais e todas as eletroencefalografias (EEG) deviam apresentar atividade de fundo normal, com espículas unilaterais ou bilaterais nas regiões centrotemporal ou centrotemporal e parietal. Todos estavam sendo tratados com medicação antiepiléptica. A idade de início das convulsões variou dos 62 aos 145 meses (média 94,37 ± 21,2 meses). Os dados mostraram que 33 (71,74%) dos 46 pacientes tinham algum tipo de transtorno do sono: insônia (18 pacientes/39,13%), enurese noturna (6 pacientes/13,04%), sonambulismo (2 pacientes/4,35%), terrores noturnos (1 paciente/2,17%), enurese noturna e terrores noturnos (2 pacientes/4,35%), terrores noturnos e sonambulismo (2 pacientes/4,35%), insônia e enurese noturna (1 paciente/2,17%) e insônia, terrores noturnos e sonambulismo (1 paciente/2,17%). Conclusões: A maioria das crianças com diagnóstico de EPCT em nosso serviço de neurologia pediátrica apresentou-se com transtornos do sono comórbidos. Os resultados são compatíveis com os dados coletados na literatura, que mostram que os transtornos do sono são mais comuns em crianças com esse tipo de epilepsia do que nas neurologicamente saudáveis.

Objetivo: La epilepsia parcial benigna de la infancia con espículas centrotemporales (EPCT) es una epilepsia idiopática que ocurre en niños saludables con neurodesarrollo normal, que se caracteriza por convulsiones y descargas interictales que predominan durante el sueño nocturno. Esta investigación analiza la prevalencia de trastornos del sueño en pacientes con BECTS acompañados en el Departamento de Neurología Pediátrica del Hospital Pequeno Príncipe desde enero de 2004 a enero de 2014. Métodos: Este estudio es observacional y transversal. El prontuario clínico de todos los niños con EPCT acompañados en la institución y en el período arriba mencionado fue analizado y 46 de esos pacientes cumplieron con los prerrequisitos para entrar en el estudio. Durante la investigación, todos los niños fueron sometidos a exámenes de neuroimagen (resonancia magnética o tomografía computada) y a electroencefalograma digital. Durante las evaluaciones clínicas, todos los pacientes y sus padres fueron preguntados sobre la presencia de trastornos del sueño. Resultados: Para ser clasificados como portadores de EPCT, los pacientes debían tener imágenes neurales normales y todas las electroencefalografías (EEG) debían presentar actividade de fondo normal, con espículas unilaterales o bilaterales en las regiones centrotemporal o centrotemporal y parietal. Todos estaban siendo tratados con medicación antiepiléptica. La edad de inicio de las convulsiones varió de los 62 a los 145 meses (promedio de 94,37 ± 21,2 meses). Los datos mostraron que 33 (71,74%) de los 46 pacientes tenían algún tipo de trastorno del sueño: insomnia (18 pacientes/39,13%), enuresis nocturna (6 pacientes/13,04%), sonambulismo (2 pacientes/4,35%), terrores nocturnos (1 paciente/2,17%), enuresis nocturna y terrores nocturnos (2 pacientes/4,35%), terrores nocturnos y sonambulismo (2 pacientes/4,35%), insomnia y enuresis nocturna (1 paciente/2,17%) e insomnia, terrores nocturnos y sonambulismo (1 paciente/2,17%). Conclusiones: La mayoría de los niños con diagnóstico de EPCT en nuestro servicio de neurología pediátrica se presentó con trastornos del sueño comórbidos. Los resultados son compatibles con los datos colectados en la literatura, que muestran que los trastornos del sueño son más comunes en niños con ese tipo de epilepsia que en los neurológicamente saludables.

Serial and prolonged EEG monitoring in anti-N-Methyl-d-Aspartate receptor encephalitis.

OBJECTIVE: To describe serial electroencephalographic (EEG) findings of three patients with anti-NMDAR encephalitis. METHODS: Three women (age 15-34years) with confirmed anti-NMDAR encephalitis underwent serial EEG recordings. Continuous EEG for 72h was performed in one case and 3-day video-EEG monitoring was obtained in two cases. RESULTS: Generalized rhythmic delta activity (GRDA) was found in all patients. GRDA persisted for hours, but was not continuous on a 24-h EEG recording, disclosed no frequency, voltage or field evolution, and was not seen on the first EEG of two patients. Extreme delta brush was noted in two patients who presented more severe disease. One patient presented seizures, which were electrographically and clinically different from the GRDA pattern and from dyskinetic movements. CONCLUSIONS: Serial or continuous EEG may be necessary to detect GRDA in anti-NMDAR patients. To avoid unnecessary treatment, this pattern should not be interpreted as indicative of ictal activity, unless there is evidence of its ictal nature. SIGNIFICANCE: Our findings may contribute to the diagnosis of anti-NMDAR encephalitis in cases with characteristic clinical picture.

Relación entre las estrategias de afrontamiento, ansiedad, depresión y autoestima, en un grupo de adultos con diagnóstico de cáncer / Relationship between coping strategies, anxiety, depression and self-estee m in a group of adult patients diagnosed with cancer

El presente estudio es de tipo descriptivo correlacional, tiene como objetivo identificar la relación existente entre las estrategias de afrontamiento, los niveles de autoestima, ansiedad y depresión en un grupo de 17 pacientes adultos con diagnóstico de cáncer, para lo cual se emplearon la Escala de Autoestima de Rosemberg, la Escala Hospitalaria de Ansiedad y Depresión (HAD) y la Escala de Estrategias de Coping Modificada (EEC-M). Se obtuvo como resultado una correlación significativa entre los niveles de ansiedad y los niveles de autoestima y entre los niveles de ansiedad y las estrategias de afrontamiento de solución de problemas, reevaluación positiva y reacción agresiva. Al igual que una correlación significativa entre los niveles de depresión y las estrategias de afrontamiento de solución de problemas, negación, reacción agresiva y la expresión de la dificultad de afrontamiento.

To carry out this project a descriptive correlational design was used in order to identify the existent relationship between coping strategies, self-esteem, anxiety levels and depression in a group of 17 adult patients diagnosed with cancer. The Rosenberg Self-Esteem Scale, The Hospital Anxiety and Depression Scale (HAD) and the modified Coping Strategies Scale (EEC-M) were applied for this purpose. This research showed the following results: A correlation between anxiety and self-esteem levels, anxiety levels and coping strategies for problem solving, positive reappraisal and aggressive reaction. Likewise, a meaningful correlation between depression levels and coping strategies for problem solving, negation, aggressive reaction and the expression of the coping difficulty were observed.

Stimulus-induced rhythmic, periodic, or ictal discharges (SIRPIDs): an intriguing EEG phenomenon.

SIRPIDs, an acronym for stimulus-induced rhythmic, periodic, or ictal discharges, were first named in 2004. This is a pattern observed in continuous electroencephalogram (CEEG) consistently elicited by stimulation in comatose patients. The pathophysiology of SIRPIDs probably involves dysregulation of subcortico-cortical projections, particularly thalamocortical circuit, in a markedly abnormal brain with hyperexci-table cortex. This may explain some studies found an association of prolonged periodic epileptiform discharges (PEDs) activity and a higher incidence of concurrent electrographic seizures and SIRPIDs. An association of SIRPIDs and poor prognosis has already been described. However, it is not yet possible to assert whether these discharges can cause neuronal injury or if they are simply a marker of severe brain injury. Objective of this paper is to review clinical relevance and pathophysiology of SIRPIDs, as well as its role as a brain response in the critically ill patient.