Continuous epileptiform discharges are associated with worse neurodevelopmental findings in a congenital Zika syndrome prospective cohort.

PURPOSE: This study aimed to identify continuous epileptiform discharges (CEDs) on electroencephalograms (EEG) and to determine their clinical significance in children with congenital Zika syndrome (CZS). METHODS: This prospective cohort study included 75 children diagnosed with CZS born from March 2015 and followed up until September 2018 (age up to 36 months). EEG was performed to detect CEDs up to 24 months old. Data on obstetric, demographic, and clinical signs; cranial computed tomography (CT); ophthalmology examination; anti-seizure medication; growth; and motor development were collected. Fisher's exact test was used to verify the associations between categorical variables, and the T- test was used to compare the mean z-scores of anthropometric measurements between the groups with and without CED. RESULTS: CEDs were identified in 41 (54.67 %) children. The mean age of CEDs identification was 12.24 ± 6.86 months. Bilateral CEDs were shown in 62.89 % of EEGs. CEDs were associated with severe congenital microcephaly, defined by z-score >3 standard deviation of head circumference (HC) below the mean for sex and age (p = 0.025), and worse outcomes, including first seizure before 6 months (p = 0.004), drug-resistant epilepsy (p < 0.001), chorioretinal scarring or mottling (p = 0.002), and severe CT findings (p = 0.002). The CED group had lower mean z-scores of HC up to 24 months of age. CONCLUSION: This is the first description of the prevalence and significance of CEDs that also remains during wakefulness in patients with CZS. New investigations may suggest that it is more appropriate to classify the EEG not as a CED, but as a periodic pattern. Anyway, CEDs may be a marker of neurological severity in children with CSZ.

Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome.

OBJECTIVES: To verify characteristics associated with drug resistant epilepsy in children up to 36 months of age with Congenital Zika Syndrome (CZS). METHODS: This is a prospective cohort study with children aged up to 36 months diagnosed with CZS. Obstetric, demographic, phenotype and other clinical signs, cranial tomography, growth and motor development of the children were collected. RESULTS: Of a total of 109 children diagnosed with CZS, 100 (91.7%) had epilepsy and 68 (68%) with drug resistant seizures. The types of seizures associated with drug resistant epilepsy were focal seizures from the occipital lobe, generalized tonic and generalized tonic-clonic seizures. There was an association between drug resistant epilepsy and microcephaly at birth, severe microcephaly at birth, excess nuchal skin, ventriculomegaly, reduced brain parenchyma volume, and hypoplasia or malformation of the cerebellum. Difficulty sleeping, irritability, continuous crying, dysphagia and gross motor function were clinical signs associated with drug resistant epilepsy, as were the presence of ocular abnormalities, low head circumference in the first year of life and low weight in the first six months. CONCLUSIONS: The prevalence of drug resistant epilepsy in children up to 36 months with CZS was 62.4% and was associated with the severity of the child's neurological damage, with emphasis on the reduction of brain parenchyma volume and damage to the cerebellum.

Decline in head circumference growth and associated factors in congenital Zika syndrome.

Little is known about the evolution of head circumference (HC) in children with congenital Zika syndrome (CZS). This study aims to evaluate HC growth in children with CZS in the first three years of life and identify associated factors. HC data obtained at birth and in neuropediatric consultations from 74 children with CZS were collected from the Child's Health Handbook, parents' reports, and medical records. Predictors of HC z-score were investigated using different mixed-effects models; Akaike's information criterion was used for model selection. The HC z-score decreased from -2.7 ± 1.6 at birth to -5.5 ± 2.2 at 3 months of age, remaining relatively stable thereafter. In the selected adjusted model, the presence of severe brain parenchymal atrophy and maternal symptoms of infection in the first trimester of pregnancy were associated with a more pronounced reduction in the HC z-score in the first three years of life. The decrease of HC z-score in CZS children over the first three months demonstrated a reduced potential for growth and development of the central nervous system of these children. The prognosis of head growth in the first 3 years of life is worse when maternal infection occurs in the first gestational trimester and in children who have severe brain parenchymal atrophy.

Decline in head circumference growth and associated factors in congenital Zika syndrome / Declínio no crescimento do perímetro cefálico e fatores associados à síndrome congênita associada à infecção pelo vírus Zika / Disminución del crecimiento del perímetro cefálico y factores asociados en el síndrome congénito del Zika

Little is known about the evolution of head circumference (HC) in children with congenital Zika syndrome (CZS). This study aims to evaluate HC growth in children with CZS in the first three years of life and identify associated factors. HC data obtained at birth and in neuropediatric consultations from 74 children with CZS were collected from the Child's Health Handbook, parents' reports, and medical records. Predictors of HC z-score were investigated using different mixed-effects models; Akaike's information criterion was used for model selection. The HC z-score decreased from -2.7 ± 1.6 at birth to -5.5 ± 2.2 at 3 months of age, remaining relatively stable thereafter. In the selected adjusted model, the presence of severe brain parenchymal atrophy and maternal symptoms of infection in the first trimester of pregnancy were associated with a more pronounced reduction in the HC z-score in the first three years of life. The decrease of HC z-score in CZS children over the first three months demonstrated a reduced potential for growth and development of the central nervous system of these children. The prognosis of head growth in the first 3 years of life is worse when maternal infection occurs in the first gestational trimester and in children who have severe brain parenchymal atrophy.

Pouco se sabe sobre a evolução do perímetro cefálico (PC) em crianças com síndrome congênita associada à infecção pelo vírus Zika (SCZ) em acompanhamentos contínuos. Este estudo buscou avaliar o crescimento do PC em crianças com SCZ nos primeiros três anos de suas vidas e identificar os fatores associados a ele. Os dados do PC ao nascimento e obtidos em consultas neuropediátricas de 74 crianças com SCZ foram coletados no Cartão da Criança, nos laudos paternos e em seus prontuários. Os preditores de escore-z para PC foram investigados utilizando-se diferentes modelos de efeitos mistos. O critério de informação de Akaike foi utilizado para selecionar os modelos usados. O escore-z de PC diminuiu de -2,7 ± 1,6 ao nascimento para -5,5 ± 2,2 aos 3 meses de idade, mas permaneceu relativamente estável desde então. No modelo ajustado selecionado, a presença de atrofia parênquimal cerebral grave e sintomas maternos de infecção no primeiro trimestre de sua gravidez estiveram associados a uma redução mais acentuada no escore-z de PC nos primeiros três anos de vida dos participantes. A diminuição do escore-z de PC em crianças com SCZ nos primeiros 3 meses de sua vida monstra o potencial reduzido de crescimento e desenvolvimento do sistema nervoso central dessas crianças. O prognóstico de crescimento do perímetro cefálico nos primeiros 3 anos de vida é pior quando a infecção materna ocorreu no primeiro trimestre gestacional e em crianças que tiveram atrofia parênquimal grave.

Se conoce poco sobre la evolución del perímetro cefálico (PC) en niños con síndrome de Zika congénito (SZC) en los seguimientos continuos. El objetivo del estudio fue evaluar el crecimiento del PC en niños con SZC en los primeros 3 años de vida e identificar los factores asociados. Se recogieron datos del PC al nacimiento y obtenidos en las consultas de neuropediatría de 74 niños con SZC a partir de la Tarjeta del Niño, los informes de los padres y los registros médicos. Se investigaron los predictores de la puntuación Z del PC mediante diferentes modelos de efectos mixtos; se utilizó el criterio de información de Akaike para la selección del modelo. La puntuación Z del PC disminuyó de -2,7 ± 1,6 al nacer a -5,5 ± 2,2 a los 3 meses de edad, pero a partir de entonces se mantuvo relativamente estable. En el modelo ajustado seleccionado, la presencia de atrofia grave del parénquima cerebral y los síntomas maternos de infección en el primer trimestre del embarazo se asociaron con una reducción más pronunciada de la puntuación Z del PC en los primeros 3 años de vida. La disminución de la puntuación Z del PC en los niños con SZC durante los primeros 3 meses demuestra el menor potencial de crecimiento y desarrollo del sistema nervioso central de estos niños. El pronóstico del crecimiento de la cabeza en los primeros 3 años de vida es peor cuando la infección materna se produjo en el primer trimestre gestacional y en los niños que tenían una atrofia grave del parénquima cerebral.

Zika Brazilian Cohorts (ZBC) Consortium: Protocol for an Individual Participant Data Meta-Analysis of Congenital Zika Syndrome after Maternal Exposure during Pregnancy.

Despite great advances in our knowledge of the consequences of Zika virus to human health, many questions remain unanswered, and results are often inconsistent. The small sample size of individual studies has limited inference about the spectrum of congenital Zika manifestations and the prognosis of affected children. The Brazilian Zika Cohorts Consortium addresses these limitations by bringing together and harmonizing epidemiological data from a series of prospective cohort studies of pregnant women with rash and of children with microcephaly and/or other manifestations of congenital Zika. The objective is to estimate the absolute risk of congenital Zika manifestations and to characterize the full spectrum and natural history of the manifestations of congenital Zika in children with and without microcephaly. This protocol describes the assembly of the Consortium and protocol for the Individual Participant Data Meta-analyses (IPD Meta-analyses). The findings will address knowledge gaps and inform public policies related to Zika virus. The large harmonized dataset and joint analyses will facilitate more precise estimates of the absolute risk of congenital Zika manifestations among Zika virus-infected pregnancies and more complete descriptions of its full spectrum, including rare manifestations. It will enable sensitivity analyses using different definitions of exposure and outcomes, and the investigation of the sources of heterogeneity between studies and regions.

Congenital Zika syndrome: Growth, clinical, and motor development outcomes up to 36 months of age and differences according to microcephaly at birth.

BACKGROUND: Little is known regarding the developmental consequences of congenital Zika syndrome (CZS) without microcephaly at birth. Most previously published clinical series were descriptive and they had small sample sizes. STUDY DESIGN: We conducted a cohort study to compare the growth, clinical, and motor development outcomes for 110 children with CZS born with and without microcephaly up to their third birthday. Ninety-three had their head circumference (HC) at birth abstracted and they did not have hypertensive hydrocephalus at birth, where 61 were born with microcephaly and 32 without. RESULTS: The HC z-scores decreased steeply from birth to six months of age, i.e., from -3.77 to -6.39 among those with microcephaly at birth and from -1.03 to -3.84 among those without. Thus, at 6 months of age, the mean HC z-scores for children born without microcephaly were nearly the same as those for children born with microcephaly. Children born without microcephaly were less likely to have brain damage, ophthalmic abnormalities, and drug-resistant epilepsy, but the differences in many conditions were not statistically significant. CONCLUSIONS: Children born without microcephaly were only slightly less likely to present severe neurologic impairment and to develop postnatal-onset microcephaly, and some of the original differences between the groups tended to dissipate with age.

Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth.

This study analyzed possible associations between the trimester of maternal Zika virus infection (ZIKV) in pregnancy, severity of brain computed tomography (CT) findings and the presence of microcephaly at birth in children with Congenital Zika Syndrome (CZS). It was an analytical study in a cohort of children with CZS. Symptoms of maternal infection were dichotomized into the 1st trimester of pregnancy and other trimesters. Head circumference (HC) at birth was used to calculate the z-score. Mild microcephaly was defined as HC between 2 and ≥3 standard deviations (SD) below the mean for each gestational age and sex, and severe microcephaly when HC <3 SD below average. Brain CT images were evaluated by two radiologists and classified, according to the severity, into mild, moderate and severe. Fisher's exact, Mann-Whitney and Kruskal-Wallis tests were used to verify the associations between variables. In 108 children, maternal infection in the 1st trimester of pregnancy was associated with more severe brain CT abnormalities (p=0.038), greater severity of microcephaly at birth (p=0.013) and lower HC z-scores at birth (p=0.021). The severity of brain CT lesions was also associated with lower HC z-scores at birth (p<0.001). Maternal ZIKV infection during the first trimester of pregnancy proved to be an important risk factor for a more severe spectrum of CZS, as it is associated with more severe brain CT abnormalities and, consequently, with lower HC z-scores at birth.

[Experiences of parents of children born with microcephaly during the Zika epidemic following disclosure of the diagnosis]. / Experiências de pais de crianças nascidas com microcefalia, no contexto da epidemia de Zika, a partir da comunicação do diagnóstico.

This article aims to understand how parents of children with microcephaly received the diagnosis. This qualitative study was conducted at State Referral Center for Children's Neurodevelopment, Care, and Rehabilitation (NINAR) in São Luís, Maranhão State, Brazil, from April 2017 to February 2018. Participants in the study included parents or guardians of children with microcephaly. Data collection included structured and semi-structured interviews with 3 couples, 16 mothers, and 1 great-grandmother, totaling 20 interviews. The sample was defined by the saturation criterion, and content analysis was performed according to the thematic modality. Eighteen interviewees reported that the diagnosis had been disclosed to them inappropriately and traumatically, sometimes linked to a sense of "end of life" and dissociated from orientation on ways to cope with the situation and care for the child. The diagnosis of microcephaly was disclosed by physicians in 15 of the 20 cases. Three other cases were disclosed as follows: one by a nurse, one by the mother-in-law (who had learned of the diagnosis from the physician), and one by a health department employee. The other two did not receive the diagnosis: one couple learned of the microcephaly from the infant's Certificate of Life Birth and the other associated the child's problem with information broadcast on the media. Three thematic lines were analyzed: omission of the diagnosis; process of disclosure of the diagnosis; and anticipation of the prognosis. The ways diagnosis of microcephaly was disclosed to families influenced how they accepted and coped with the situation.

Este artigo tem como objetivo compreender como os pais de crianças com microcefalia receberam a comunicação do diagnóstico. Trata-se de um estudo qualitativo, realizado no Centro de Referência Estadual em Neurodesenvolvimento, Assistência e Reabilitação de Crianças (NINAR), em São Luís, Maranhão, Brasil, no período de abril de 2017 a fevereiro de 2018. Participaram do estudo os responsáveis de crianças com microcefalia. As técnicas de coleta de dados foram entrevistas estruturadas e semiestruturadas com 3 casais, 16 mães e 1 bisavó, totalizando 20 entrevistas. A amostra foi definida pelo critério de saturação, e foi realizada análise de conteúdo na modalidade temática. Para 18 entrevistados, a forma da comunicação foi considerada inadequada e traumática, algumas vezes atrelada ao sentido de "fim da vida" e dissociada de orientações sobre as formas de enfrentar a situação e cuidar do filho. Em 15 dos 20 casos, o diagnóstico de microcefalia foi dado por médicos e, em 3 casos, por enfermeira, por sogra (que soube pelo médico) e por uma funcionária da Secretaria de Saúde. Os dois outros não receberam diagnóstico: um casal soube da microcefalia pela Declaração de Nascido Vivo e outro associou o problema do filho a informações veiculadas na mídia. Foram três os eixos temáticos analisados: omissão do diagnóstico, processo de comunicação do diagnóstico e antecipação de prognóstico. As formas de comunicação do diagnóstico da microcefalia aos familiares influenciaram nos modos de aceitação e enfrentamento da situação.

Este artículo tiene como objetivo comprender cómo los padres de niños con microcefalia recibieron la comunicación del diagnóstico. Se trata de un estudio cualitativo, realizado en el Centro de Referencia Estatal en Neurodesarrollo, Asistencia y Rehabilitación de Niños (NINAR), en São Luís, Maranhão, Brasil, durante el período de abril de 2017 a febrero de 2018. Participaron en el estudio los responsables de niños con microcefalia. Las técnicas de recogida de datos fueron entrevistas estructuradas y semiestructuradas con 3 parejas, 16 madres y 1 bisabuela, totalizando 20 entrevistas. La muestra se definió por el criterio de saturación y se realizó un análisis de contenido de modalidad temática. Para los 18 entrevistados, la forma de la comunicación fue considerada inadecuada y traumática, algunas veces vinculada al sentido de "fin de la vida" y disociada de orientaciones sobre las formas de enfrentar la situación y cuidar del hijo. El diagnóstico de microcefalia fue proporcionado por médicos en 15 de los 20 casos y en tres casos: por una enfermera, por la suegra (que lo supo por el médico) y por una funcionaria de la Secretaría de Salud. Los otros dos no recibieron diagnóstico: una pareja supo que era microcefalia por la declaración de nacido vivo (DNV) y otra asoció el problema del hijo con la información a través de los medios de comunicación. Fueron tres los ejes temáticos analizados: omisión del diagnóstico; proceso de comunicación del diagnóstico y anticipación de pronóstico. Las formas de comunicación del diagnóstico de la microcefalia a los familiares influenciaron en las formas de aceptación y de saber cómo enfrentarse a la situación.

Experiências de pais de crianças nascidas com microcefalia, no contexto da epidemia de Zika, a partir da comunicação do diagnóstico / Experiences of parents of children born with microcephaly during the Zika epidemic following disclosure of the diagnosis / Experiencias de padres de niños nacidos con microcefalia en el contexto de la epidemia de Zika a partir de la comunicación del diagnóstico

Resumo: Este artigo tem como objetivo compreender como os pais de crianças com microcefalia receberam a comunicação do diagnóstico. Trata-se de um estudo qualitativo, realizado no Centro de Referência Estadual em Neurodesenvolvimento, Assistência e Reabilitação de Crianças (NINAR), em São Luís, Maranhão, Brasil, no período de abril de 2017 a fevereiro de 2018. Participaram do estudo os responsáveis de crianças com microcefalia. As técnicas de coleta de dados foram entrevistas estruturadas e semiestruturadas com 3 casais, 16 mães e 1 bisavó, totalizando 20 entrevistas. A amostra foi definida pelo critério de saturação, e foi realizada análise de conteúdo na modalidade temática. Para 18 entrevistados, a forma da comunicação foi considerada inadequada e traumática, algumas vezes atrelada ao sentido de "fim da vida" e dissociada de orientações sobre as formas de enfrentar a situação e cuidar do filho. Em 15 dos 20 casos, o diagnóstico de microcefalia foi dado por médicos e, em 3 casos, por enfermeira, por sogra (que soube pelo médico) e por uma funcionária da Secretaria de Saúde. Os dois outros não receberam diagnóstico: um casal soube da microcefalia pela Declaração de Nascido Vivo e outro associou o problema do filho a informações veiculadas na mídia. Foram três os eixos temáticos analisados: omissão do diagnóstico, processo de comunicação do diagnóstico e antecipação de prognóstico. As formas de comunicação do diagnóstico da microcefalia aos familiares influenciaram nos modos de aceitação e enfrentamento da situação.

Abstract: This article aims to understand how parents of children with microcephaly received the diagnosis. This qualitative study was conducted at State Referral Center for Children's Neurodevelopment, Care, and Rehabilitation (NINAR) in São Luís, Maranhão State, Brazil, from April 2017 to February 2018. Participants in the study included parents or guardians of children with microcephaly. Data collection included structured and semi-structured interviews with 3 couples, 16 mothers, and 1 great-grandmother, totaling 20 interviews. The sample was defined by the saturation criterion, and content analysis was performed according to the thematic modality. Eighteen interviewees reported that the diagnosis had been disclosed to them inappropriately and traumatically, sometimes linked to a sense of "end of life" and dissociated from orientation on ways to cope with the situation and care for the child. The diagnosis of microcephaly was disclosed by physicians in 15 of the 20 cases. Three other cases were disclosed as follows: one by a nurse, one by the mother-in-law (who had learned of the diagnosis from the physician), and one by a health department employee. The other two did not receive the diagnosis: one couple learned of the microcephaly from the infant's Certificate of Life Birth and the other associated the child's problem with information broadcast on the media. Three thematic lines were analyzed: omission of the diagnosis; process of disclosure of the diagnosis; and anticipation of the prognosis. The ways diagnosis of microcephaly was disclosed to families influenced how they accepted and coped with the situation.

Resumen: Este artículo tiene como objetivo comprender cómo los padres de niños con microcefalia recibieron la comunicación del diagnóstico. Se trata de un estudio cualitativo, realizado en el Centro de Referencia Estatal en Neurodesarrollo, Asistencia y Rehabilitación de Niños (NINAR), en São Luís, Maranhão, Brasil, durante el período de abril de 2017 a febrero de 2018. Participaron en el estudio los responsables de niños con microcefalia. Las técnicas de recogida de datos fueron entrevistas estructuradas y semiestructuradas con 3 parejas, 16 madres y 1 bisabuela, totalizando 20 entrevistas. La muestra se definió por el criterio de saturación y se realizó un análisis de contenido de modalidad temática. Para los 18 entrevistados, la forma de la comunicación fue considerada inadecuada y traumática, algunas veces vinculada al sentido de "fin de la vida" y disociada de orientaciones sobre las formas de enfrentar la situación y cuidar del hijo. El diagnóstico de microcefalia fue proporcionado por médicos en 15 de los 20 casos y en tres casos: por una enfermera, por la suegra (que lo supo por el médico) y por una funcionaria de la Secretaría de Salud. Los otros dos no recibieron diagnóstico: una pareja supo que era microcefalia por la declaración de nacido vivo (DNV) y otra asoció el problema del hijo con la información a través de los medios de comunicación. Fueron tres los ejes temáticos analizados: omisión del diagnóstico; proceso de comunicación del diagnóstico y anticipación de pronóstico. Las formas de comunicación del diagnóstico de la microcefalia a los familiares influenciaron en las formas de aceptación y de saber cómo enfrentarse a la situación.

Early Growth and Neurologic Outcomes of Infants with Probable Congenital Zika Virus Syndrome.

We report the early growth and neurologic findings of 48 infants in Brazil diagnosed with probable congenital Zika virus syndrome and followed to age 1-8 months. Most of these infants had microcephaly (86.7%) and craniofacial disproportion (95.8%). The clinical pattern included poor head growth with increasingly negative z-scores, pyramidal/extrapyramidal symptoms, and epilepsy.

Psychiatric disorders in juvenile myoclonic epilepsy: a controlled study of 100 patients.

In this controlled study we evaluated the frequency of psychiatric disorders (PDs) in 100 patients with juvenile myoclonic epilepsy (JME) and compared it with that of 100 healthy controls matched with respect to age, gender, schooling, and socioeconomic status. Our aim was to quantify the frequency of PDs and evaluate the relationship between PDs and factors related to epilepsy. Subjects were evaluated with the Structured Clinical Interview for DSM-IV Axis I disorders (SCID-I) and Axis II disorders (SCID-II). Patients with JME presented with significantly more PDs (P<0.01) and psychosocial problems (P<0.01) than the controls. PDs were diagnosed in 49 patients with JME. Anxiety and mood disorders, present in 23 and 19 patients, respectively, were the most frequently observed. Twenty patients fulfilled criteria for personality disorders; 17 (85%) patients had cluster B personalities comprising the behavioral characteristics impulsivity, humor reactivity, emotional instability, and difficulty in accepting social rules, similar to those cited in the earliest mentioned description of this syndrome. PDs were more frequently observed in patients with higher seizure frequency (P<0.05).

Topiramate for the treatment of juvenile myoclonic epilepsy.

OBJECTIVE: The aim of this study was to evaluate the efficacy and tolerability of topiramate (TPM) in juvenile myoclonic epilepsy (JME). METHOD: We assessed seizure control and adverse effects of TPM in 22 patients (18 females) aged 13 to 53 years. Target TPM dosage was up to 200 mg/day. The patients were subdivided into 3 groups: those treated with seizure control plus side effects (n=4); treated with non-controlled seizures (n=15) and with JME newly diagnosed (n=3). RESULTS: Sixteen patients completed the first year of the follow-up. Generalized tonic-clonic seizures were completely controlled in 10 (62.5%); more than 50% of reduction in 4 (25.0%) and less than 50% in 2 (12.5%). Myoclonia were controlled in 11 (68.8%) and persisted in 5 (31.2%) patients. Absence seizures were present in 5 (22.7%) of whom 2 (9.0%) showed more than 50% of seizure reduction while 3 (13.6%) presented worsening. Discontinuations were due to inadequate seizure control and adverse events (N=4), low compliance and loss of follow-up (N=2) and subject choice (N=1). CONCLUSION: TPM showed to be an effective and well-tolerated drug in the treatment of JME. Although frequently observed, TPM side effects were tolerable and the drug could be maintained in the majority of patients.

[EEG recording after sleep deprivation in a series of patients with juvenile myoclonic epilepsy].

Seizures in Juvenile Myoclonic Epilepsy (JME) are dependent on the sleep-wake cycle and precipitant factors, among which sleep deprivation (SD) is one of the most important. Still an under diagnosed syndrome, misinterpretation of the EEGs contributes to diagnostic delay. Despite this, a quantitative EEG investigation of SD effects has not been performed. We investigated the effect of SD on EEGs in 41 patients, aged 16-50 yr. (mean 25.4), who had not yet had syndromic diagnosis after a mean delay of 8.2 yr. Two EEG recordings separated by a 48-hour interval were taken at 7 a.m. preceded by a period of 6 hours of sleep (routine EEG) and after SD (sleep-deprived EEG). The same protocol was followed and included a rest wakefulness recording, photic stimulation, hyperventilation and a post-hyperventilation period. The EEGs were analyzed as to the effect of SD on the number, duration, morphology, localization and predominance of abnormalities in the different stages. A discharge index (DI) was calculated. Out of the 41 patients, 4 presented both normal EEG recordings. In 37 (90.2%) there were epileptiform discharges (ED). The number of patients with ED ascended from 26 (70.3%) in the routine EEG to 32 (86.5%) in the sleep-deprived exam. The presence of generalized spike-wave and multispike-wave increased from 20 (54.1%) and 13 (35.1%) in the first EEG to 29 (78.4%) and 19 (51.4%) in the second, respectively (p<0.05 and p<0.01). As to localization, the number of generalized, bilateral and synchronous ED increased from 21 (56.8%) to 30 (81.1%) (p<0.01). The DI also increased; while 8 patients (21.6%) presented greater rate in the routine EEG, 25 (67.6%) did so in the sleep-deprived EEG mainly during somnolence and sleep (p<0.01). Moreover, the paroxysms were also longer in the sleep-deprived EEG. Sleep-deprived EEG is a powerful tool in JME and can contribute significantly to the syndromic characterization of this syndrome.

EEG recording after sleep deprivation in a series of patients with juvenile myoclonic epilepsy

Na epilepsia mioclônica juvenil (EMJ), uma síndrome epiléptica ainda subdiagnosticada, as crises são dependentes do ciclo vigília-sono e de fatores precipitantes, entre os quais a privação de sono (PS) é um dos mais importantes. A interpretação inadequada dos EEGs contribui para atraso no diagnóstico. Ainda não foi realizada investigação quantitativa sobre os efeitos da PS. Avaliamos o efeito da PS nos EEGs de 41 pacientes entre 16 e 50 anos (média 25,4) com EMJ em dois registros eletrencefalográficos, separados por intervalo de 48 horas. Os exames foram realizados às 7 horas da manhã, precedidos por um período de 6 horas de sono (EEG de rotina) e após PS (EEG com PS). Seguimos o mesmo protocolo que incluiu o registro em vigília em repouso, fotostimulação, hiperventilação e pós hiperventilação. O efeito da PS foi analisado sobre o número, duração, morfologia, localização e predominância das anormalidades nos diferentes estágios. Calculamos o índice de descargas por minuto. Dos 41 pacientes, 4 tiveram ambos os registros normais. Em 37 (90,2%) houve algumas descargas epileptiformes (DE). O número de pacientes com DE ascendeu de 26 (70,3%) no EEG de rotina para 32 (86,5%) no exame em PS. A presença de descargas de espícula-onda generalizadas e multispícula-onda aumentou de 20 (54,1%) e 13 (35,1%) no primeiro EEG para 29 (78,4%) e 19 (51,4%) no segundo, respectivamente (p<0,05 e p<0,01). Quanto à localização, o número de descargas ascendeu de 21 (56,8%) para 30 (81,1%) (p<0,01). O índice de descargas (ID) também aumentou; enquanto 8 pacientes (21,6%) apresentaram ID maior no EEG de rotina, 25 (67,6%) o tiveram no EEG em PS, principalmente durante sonolência e sono (p<0,01). Ainda mais, os paroxismos também foram mais longos no EEG em PS. EEG em PS é um instrumento poderoso para o diagnóstico de EMJ podendo contribuir significantemente na caracterização desta síndrome.

Electrophysiological study of reading epilepsy with mandibular myoclonic and spontaneous partial seizures

A epilepsia da leitura (EL) é uma epilepsia reflexa rara, com crises desencadeadas pela leitura. O quadro clínico clássico consiste de mioclonias mandibulares provocadas pela leitura que podem progredir para crise generalizada se a leitura não for interrompida. Entretanto, existem relatos de pacientes com EL e crises parciais. Nós relatamos o caso de uma mulher de 37 anos com EL que apresentava mioclonias mandibulares provocadas pela leitura, bem como crises parciais espontâneas. Ela referia antecedente de fotossensibilidade. Durante a monitorização contínua com vídeo-EEG a paciente apresentou frequentes mioclonias mandibulares desencadeadas pela leitura. Ela teve duas crises parciais espontâneas, uma delas com generalização secundária. Nesse artigo, nós descrevemos os achados clínicos, eletrofisiológicos e de neuroimagem, e discutimos a atual classificação da EL entre as epilepsias focais com incício idade dependente