患有遗传病因的儿童手术:对当前实践和结果的前性评估
Jason Coryell1, Rani Singh2, Adam P Ostendorf3
1Department of Pediatrics, Oregon Health & Sciences University, CDRC-P, 707 SW Gaines Rd, Portland, OR 97239, USA.
Seizure
|January 8, 2024
概括
手术在患有遗传原因的儿童中显著减少了发作,33%的儿童获得了自由. 建议加快手术转诊,以获得更广泛的患者益处,即使是用于息的意图.
科学领域:
- 儿科神经学 儿科神经学
- 发病学 (Epileptology) 是一个专业的学科.
- 临床遗传学 临床遗传学
背景情况:
- 手术是治疗耐药的一个治疗选择.
- 遗传病因占儿科病例的很大一部分.
- 在基因多样化的儿科患者群体中了解手术结果至关重要.
研究的目的:
- 评估当前的做法和手术的结果在儿童已知的遗传原因.
- 探索各种遗传性类型的手术前检查,手术干预和术后结果.
- 在这个队列中确定影响手术后控制的因素.
主要方法:
- 对经过手术的81名患有遗传性的儿科患者 (≤18岁) 的回顾性分析.
- 从美国18个中心的儿科研究联盟 (PERC) 手术数据库中提取的数据.
- 评估结果使用修改的国际抗联盟 (ILAE) 评分,分析神经成像,EEG,遗传组和治疗意图.
主要成果:
- 72%的儿童在手术前每天发作,药物耐药性的中位延迟为2.2年.
- 68%的人经历了>50%的发作减少,33%的人在术后实现了发作自由 (中位数随访时间为11个月).
- 在单一的结构组中,发作自由度最高;单个EEG焦点与更好的发作自由度相关 (p=0.02).
结论:
- 手术可在大多数患有遗传性的儿童中显著减少发作,而不管单个结构性病变.
- 在广泛的遗传性病病因谱中,可以实现显著的情缓解.
- 这些发现支持加快手术转诊和扩大儿科遗传中手术的资格标准.
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