Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain.
Epilepsy Unit, Neurology Department, Hospital Ruber Internacional, Madrid, Spain; Epilepsy Unit, Neurology Department, Hospital Clínico San Carlos, Madrid, Spain.
Epilepsy Behav. 2020 Oct;111:107266. doi: 10.1016/j.yebeh.2020.107266. Epub 2020 Jun 29.
This study aimed to evaluate the access to advanced diagnostic tests in patients with epilepsy and intellectual disability, with special focus on genetics.
Patients with epilepsy and intellectual disability evaluated between 2016 and 2018 at the Epilepsy Unit of two hospitals in Madrid, Spain were included. The main inclusion criterion was an undetermined etiological diagnosis after clinical assessment, neuroimaging, and electroencephalogram (EEG).
Two hundred and five patients with epilepsy and intellectual disability were evaluated, with 124 fulfilling the inclusion criteria (mean age: 33.9 years). Regarding the etiological workup, advanced neuroimaging, prolonged video-EEG, and any type of genetic test had been performed in 58%, 41%, and 40%, respectively. An etiological diagnosis was reached in 18.5%. The workup was considered incomplete in 67%. Variables that showed the strongest association with an incomplete diagnostic workup in the multivariate analysis were current age and seizure freedom.
Despite the multiple implications of modern diagnostic techniques, especially genetic testing, there is a large proportion of patients with epilepsy and intellectual disability who do not have access to them. Older age and seizure freedom seem to be associated with the highest diagnostic gap.
本研究旨在评估癫痫伴智力障碍患者获得高级诊断测试的情况，特别关注遗传学。
纳入 2016 年至 2018 年在西班牙马德里两家医院癫痫科评估的癫痫伴智力障碍患者。主要纳入标准为临床评估、神经影像学和脑电图（EEG）后病因诊断不明。
共评估了 205 例癫痫伴智力障碍患者，其中 124 例符合纳入标准（平均年龄：33.9 岁）。在病因学检查方面，分别有 58%、41%和 40%的患者进行了高级神经影像学、延长视频-EEG 和任何类型的基因检测。明确病因诊断的患者占 18.5%。67%的患者被认为检查不完整。多变量分析显示，当前年龄和无癫痫发作与不完整诊断检查的相关性最强。
尽管现代诊断技术，特别是基因检测具有多重意义，但仍有很大一部分癫痫伴智力障碍患者无法获得这些技术。年龄较大和无癫痫发作似乎与最高的诊断差距有关。
