Abstract：
Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.
摘要：
在过去的十年中，医疗干预的变化改善了18三体的个体的结局，这是出生时第二常见的人类非整倍体综合征。随着18三体的孩子寿命更长，医学专家和父母共同关心的是癫痫的发生和治疗。先前发布的针对这种情况的监测指南尚未解决癫痫发作管理问题。使用作为跟踪罕见发病率综合征项目的一部分收集的家长报告的数据，我们报告了患病率，当然,以及18三体病患者的癫痫发作管理。在我们的回顾性队列中，28%(52/186)的被诊断为18三体的个体经历了广泛性，焦点，或者在他们一生中的某个时候混合发作。对很多人来说,癫痫发作通过广谱抗癫痫药物得到有效控制.相关分析表明，先前经历过婴儿痉挛或中枢神经性呼吸暂停的个体更容易发生局灶性和全身性癫痫发作。脑电图测试应被视为18三体患者标准筛查方法的一部分，以实现癫痫发作的早期诊断和治疗。纳入18三体患者的父母报告和临床数据的国际注册可能有助于正在进行的研究和招募到癫痫发作管理的临床试验中。
