EEG recording after sleep deprivation in a series of patients with juvenile myoclonic epilepsy Registros eletrencefalográficos após privação de sono em uma série de pacientes com epilepsia mioclônica juvenil

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.<br>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

The Multiple Sclerosis Data Alliance Catalogue Enabling Web-Based Discovery of Metadata from Real-World Multiple Sclerosis Data Sources

Background: One of the major objectives of the Multiple Sclerosis Data Alliance (MSDA) is to enable better discovery of multiple sclerosis (MS) real-world data (RWD). Methods: We implemented the MSDA Catalogue, which is available worldwide. The current version of the MSDA Catalogue collects descriptive information on governance, purpose, inclusion criteria, procedures for data quality control, and how and which data are collected, including the use of e-health technologies and data on collection of COVID-19 variables. The current cataloguing procedure is performed in several manual steps, securing an effective catalogue. Results: Herein we summarize the status of the MSDA Catalogue as of January 6, 2021. To date, 38 data sources across five continents are included in the MSDA Catalogue. These data sources differ in purpose, maturity, and variables collected, but this landscaping effort shows that there is substantial alignment on some domains. The MSDA Catalogue shows that personal data and basic disease data are the most collected categories of variables, whereas data on fatigue measurements and cognition scales are the least collected in MS registries/cohorts. Conclusions: The Web-based MSDA Catalogue provides strategic overview and allows authorized end users to browse metadata profiles of data cohorts and data sources. There are many existing and arising RWD sources in MS. Detailed cataloguing of MS RWD is a first and useful step toward reducing the time needed to discover MS RWD sets and promoting collaboration. Int J MS Care. 2021;23:261-268