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Abstract：
BACKGROUND: To analyze the etiological distribution characteristics of drug-resistant epilepsy (DRE) in children, with the aim of providing valuable perspectives to enhance clinical practice.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：分析儿童耐药性癫痫（DRE）的病因分布特征，目的是提供有价值的观点来加强临床实践。
方法：在这项回顾性研究中，收集了在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,癫痫发作类型,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，纳入的儿童被分为不同的组.进行秩和检验以比较不同病因的发病年龄。
结果：在167例中，89（53.3%）有明确的病因。其中,结构因素占23.4%，遗传因素占19.2%，7.2%的多重因素，和免疫因子为3.6%。具有遗传原因的儿童的发病年龄明显早于具有结构性（P<0.001）或免疫学（P=0.001）原因的儿童。
结论：超过一半的DRE儿童有明显的潜在病因，主要归因于结构性因素，其次是遗传因素。遗传病因主要表现在早期，尤其是一岁以下的儿童。这强调了积极加强基因检测的必要性，以揭示根本原因并随后指导治疗方案。
方法：在这项回顾性研究中，收集了在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,癫痫发作类型,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，纳入的儿童被分为不同的组.进行秩和检验以比较不同病因的发病年龄。
结果：在167例中，89（53.3%）有明确的病因。其中,结构因素占23.4%，遗传因素占19.2%，7.2%的多重因素，和免疫因子为3.6%。具有遗传原因的儿童的发病年龄明显早于具有结构性（P<0.001）或免疫学（P=0.001）原因的儿童。
结论：超过一半的DRE儿童有明显的潜在病因，主要归因于结构性因素，其次是遗传因素。遗传病因主要表现在早期，尤其是一岁以下的儿童。这强调了积极加强基因检测的必要性，以揭示根本原因并随后指导治疗方案。
