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Etiological analysis of 167 cases of drug-resistant epilepsy in children
Italian Journal of Pediatrics ( IF 3.6 ) Pub Date : 2024-03-13 , DOI: 10.1186/s13052-024-01619-8
Ran-Ran Zuo , Mei Jin , Su-Zhen Sun

To analyze the etiological distribution characteristics of drug-resistant epilepsy (DRE) in children, with the aim of providing valuable perspectives to enhance clinical practice. In this retrospective study, clinical data were collected on 167 children with DRE who were hospitalized between January 2020 and December 2022, including gender, age of onset, seizure types, video electroencephalogram(VEEG) recordings, neuroimaging, and genetic testing results. Based on the etiology of epilepsy, the enrolled children were categorized into different groups. The rank-sum test was conducted to compare the age of onset for different etiologies. Of the 167 cases, 89 (53.3%) had a clear etiology. Among them, structural factors account for 23.4%, genetic factors for 19.2%, multiple factors for 7.2%, and immunological factors for 3.6%. The age of onset was significantly earlier in children with genetic causes than those with structural (P < 0.001) or immunological (P = 0.001) causes. More than half of children with DRE have a distinct underlying cause, predominantly attributed to structural factors, followed by genetic factors. Genetic etiology primarily manifests at an early age, especially among children aged less than one year. This underscores the need for proactive enhancements in genetic testing to unveil the underlying causes and subsequently guide treatment protocols.

中文翻译:

167例儿童耐药性癫痫病因分析

分析儿童耐药性癫痫(DRE)的病原学分布特征,为临床实践提供有价值的参考。在这项回顾性研究中,收集了2020年1月至2022年12月期间住院的167例DRE儿童的临床数据,包括性别、发病年龄、癫痫类型、视频脑电图(VEEG)记录、神经影像学和基因检测结果。根据癫痫的病因,将纳入的儿童分为不同的组。进行秩和检验来比较不同病因的发病年龄。167例中,89例(53.3%)病因明确。其中,结构性因素占23.4%,遗传因素占19.2%,多种因素占7.2%,免疫因素占3.6%。遗传原因儿童的发病年龄明显早于结构性(P < 0.001)或免疫学(P = 0.001)原因的儿童。超过一半的 DRE 儿童有明显的根本原因,主要归因于结构因素,其次是遗传因素。遗传病因主要表现在幼儿时期,特别是在一岁以下的儿童中。这强调需要主动加强基因检测,以揭示根本原因并随后指导治疗方案。
更新日期:2024-03-14
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