Ballarà Petitbò Maria, González Alguacil Elena, Gutiérrez Delicado Eva, Ortiz Cabrera Nelmar Valentina, Duat Rodríguez Anna, García Peñas Juan José, Soto Insuga Victor
Neurology Department, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain.
Video-EEG Monitoring Unit, Hospital Universitario Infantil del Niño Jesús, Madrid, Spain.
Epileptic Disord. 2023 Oct;25(5):758-768. doi: 10.1002/epd2.20148. Epub 2023 Aug 19.
Epilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.
This is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.
Seventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with -IQ <70-), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure-free after a mean follow-up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug-resistant epilepsy.
In our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.
眼睑肌阵挛性癫痫（EEM）是一种罕见的癫痫综合征，归类于儿童遗传性全身性癫痫。其特点是耐药性高，关于预后因素和神经发育共病知之甚少。本研究的目的是描述一系列EEM儿童的临床特征、认知概况和预后因素。
这是一项对2012年至2022年在一家三级儿科医院诊断为EEM的患者进行的回顾性观察研究。
分析了17例患者（症状发作时的平均年龄为5.8岁）。76.4%的患者存在神经精神共病（注意缺陷多动障碍58.8%、行为障碍11.8%、自闭症谱系障碍11.8%、精神病性发作11.8%）。75%的患者进行了神经认知评估，66.6%存在认知障碍（62.5%为边缘智力功能，37.5%智商<70），主要在执行功能、综合语言和运动技能方面存在困难。在一名患者中观察到认知恶化与精神病性症状同时出现。观察到对抗癫痫药物（ASM）的高难治性，平均随访7年后只有23.5%的患者无癫痫发作。最有效的ASM是丙戊酸，其中2例接受生酮饮食且反应良好。关于预后因素，精神病性症状与更多的抗癫痫药物相关（p<0.05），这意味着癫痫更具耐药性。
在我们的研究中，我们发现认知和精神共病率高以及难治性高。这些数据支持EEM是特发性全身性癫痫与癫痫性和/或神经发育性脑病之间的中间实体这一概念。对这些共病进行正确的诊断和管理对于改善EEM的预后和生活质量是必要的。
