Department of Biology, Faculty of Arts and Sciences, Holy Spirit University of Kaslik-Jounieh, Lebanon.
School of Medicine and Medical Sciences, Holy Spirit University of Kaslik, Jounieh, Lebanon.
PLoS One. 2024 Apr 9;19(4):e0300930. doi: 10.1371/journal.pone.0300930. eCollection 2024.
Juvenile Myoclonic Epilepsy (JME) is a prevalent form of epileptic disorder, specifically categorized within the realm of Genetic Generalized Epilepsy (GGE). Its hallmark features encompass unprovoked bilateral myoclonus and tonic-clonic seizures that manifest during adolescence. While most JME patients respond favorably to anti-seizure medication (ASM), a subset experiences refractory JME, a condition where seizures persist despite rigorous ASM treatment, often termed "Drug-Resistant Epilepsy" (DRE). This systematic review and meta-analysis aims to determine the prevalence of refractory JME, and further to identify socio-demographic, electrophysiological and clinical risk factors associated with its occurrence. Pinpointing these factors is crucial as it offers the potential to predict ASM responsiveness, enabling early interventions and tailored care strategies for patients.
The systematic review and meta-analysis followed the Cochrane Handbook and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The study evaluated outcomes post ASM treatment in JME cohorts by searching papers published up to September 2023 in PubMed/MEDLINE, Scopus, and Google Scholar databases. Predefined inclusion criteria were met by 25 eligible studies, forming the basis for analysis.
A total of 22 potential risk factors for refractory JME were documented. Notably, robust risk factors for treatment resistance included Psychiatric Disorder (Odds Ratio (OR), 3.42 [2.54, 4.61] (95% Confidence Inverval (Cl)), Febrile Seizures (OR, 1.83 [1.14, 2.96] (95% Cl)), Alcohol Consumption (OR, 16.86 [1.94, 146.88] (95%Cl)), Aura (OR, 2.15 [1.04, 4.47] (95%Cl)), childhood absence epilepsy (CAE) evolving into JME (OR, 4.54 [1.61, 12.78] (95%CI)), occurrence of three seizure types (OR, 2.96 [1.96, 4.46] (95%CI)), and Focal EEG abnormalities (OR, 1.85 [1.13, 3.01] (95%Cl)). In addition, there were some non-significant risk factors for DRE because of noticeable heterogeneity.
In aggregate, over 36% of JME patients demonstrated drug resistance, with seven significant risk factors closely linked to this refractoriness. The interplay between these factors and whether they denote treatment non-response or heightened disease burden remains an open question and more studies would be required to fully examine their influence.
青少年肌阵挛癫痫（JME）是一种常见的癫痫疾病，具体属于遗传性全面性癫痫（GGE）范畴。其特征包括无诱因的双侧肌阵挛和强直-阵挛发作，这些发作通常在青少年时期出现。尽管大多数 JME 患者对抗癫痫药物（ASM）有反应，但有一部分患者会出现难治性 JME，即尽管进行了严格的 ASM 治疗，癫痫仍持续存在，这种情况通常被称为“耐药性癫痫”（DRE）。本系统评价和荟萃分析旨在确定难治性 JME 的患病率，并进一步确定与该病发生相关的社会人口统计学、电生理学和临床风险因素。确定这些因素至关重要，因为它有可能预测 ASM 的反应性，从而为患者提供早期干预和个体化的护理策略。
该系统评价和荟萃分析遵循 Cochrane 手册，并遵循系统评价和荟萃分析的 Preferred Reporting Items（PRISMA）指南。该研究通过检索截至 2023 年 9 月在 PubMed/MEDLINE、Scopus 和 Google Scholar 数据库中发表的论文，评估了 JME 队列中 ASM 治疗后的结果。符合预定义纳入标准的 25 项研究纳入分析。
共记录了 22 个难治性 JME 的潜在风险因素。值得注意的是，治疗抵抗的强风险因素包括精神障碍（优势比（OR），3.42 [2.54，4.61]（95%置信区间（Cl）））、热性惊厥（OR，1.83 [1.14，2.96]（95%Cl））、酒精摄入（OR，16.86 [1.94，146.88]（95%Cl））、先兆（OR，2.15 [1.04，4.47]（95%Cl））、儿童失神癫痫（CAE）发展为 JME（OR，4.54 [1.61，12.78]（95%CI））、出现三种发作类型（OR，2.96 [1.96，4.46]（95%CI））和局灶性脑电图异常（OR，1.85 [1.13，3.01]（95%Cl））。此外，由于明显的异质性，还有一些非显著的 DRE 风险因素。
总的来说，超过 36%的 JME 患者表现出药物抵抗，有 7 个显著的风险因素与这种耐药性密切相关。这些因素之间的相互作用，以及它们是否表示治疗无反应或疾病负担加重，仍然是一个悬而未决的问题，需要更多的研究来全面检查它们的影响。
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