基于癫癎单病例研究文献之系统评价

Systematic Review of N-of-1 Studies in Epilepsy

目的收集和分析癫癎以及癫癎综合征单病例研究的相关文献进行系统评价,期望对癫癎及相关疾病的精准化治疗提供有用的线索。方法检索PubMed和Spischolar数据库,收集符合纳入标准的癫癎及相关疾病单病例研究的原始文献,提取文献报道病例的基本情况、干预措施、测量、结局指标及研究质量和偏倚风险评估。结果系统评价纳入的10组单病例研究,均系根据癫癎及相关疾病的发病机制以及癫癎发生过程给予相应的干预措施,经过内效性、外效性以及偏倚风险的评估,认为这些干预措施可以明显减少癫癎发作次数并改善伴随症状。结论mTOR信号通道抑制剂西罗莫司等,可以作为出现癫癎发作的mTOR病的辅助治疗药物,而且可改善患者的认知损害;NMDAR拮抗剂美金刚等,可以作为NMDAR功能异常导致的癫癎综合征和癫癎性脑病的药物治疗;钾离子通道阻滞剂4-氨基吡啶等,可以作为CNA2-癫癎性脑病治疗药物;烟碱贴片可以作为CHRNA4基因突变癫癎综合征的辅助用药。

Aim To sum up and systematically review the literature of N-of-1 studies in epilepsy and epilepsy syndrome,and provide some useful clues for the precise treatment of epilepsy and related diseases.Methods PubMed and Spischolar were searched for relevant studies in our systematic review.Information was recorded on types of interventions,outcome measures,validity,and critical appraisal tools.Qualitative and descriptive analysis were performed.Results Ten studies met the N-of-1 inclusion criteria,including both single trials and series.Interventions were mainly directed to pathological mechanism and epileptogenesis.The interventions can reduce seizures and improve neuropsychiatric manifestations.Main strengths were the use of personalized and clinically relevant outcomes in most studies.Conclusion Sirolimus,memantine,4-AP and nicotine patches may be potential treatments for genetic epilepsy,developmental and epileptic encephalopathies.