目的:探讨发育性和/或癫痫性脑病伴睡眠尖峰波激活(D/EE-SWAS)的临床特征,它的电特性,和病因,并使用沙特阿拉伯数据库比较不同治疗策略对结局的影响。
方法:这项多中心研究包括2010年至2020年在11个三级中心进行评估的D/EE-SWAS儿童。数据收集了他们的基线临床特征,病因,和治疗方式。癫痫发作减少,尖峰波指数,和认知状态作为潜在的治疗结果进行检查。
结果:91名儿童被诊断为D/EE-SWAS,年龄中位数为7岁(IQR:3-5),性别分布几乎相等。诊断为癫痫的平均年龄为3岁(IQR:5-2)。在35.1%的患者中发现了遗传/代谢病因,在27.4%中发现了结构性病因。与患有其他病因的儿童相比,患有潜在遗传/代谢疾病的儿童表现出更早的癫痫发作(P=0.001)。苯二氮卓类药物(76.6%)是最常见的治疗方法,其次是类固醇(51.9%)。丙戊酸钠(75%)是最常用的抗癫痫药物,其次是左乙拉西坦(64.9%)。癫痫发作较晚的儿童更有可能有更好的临床反应(P=0.046)。脑电图反应(P=0.012),和认知结果(P=0.006)比发病较早的儿童。此外,在脑电图上有双侧发作间放电的患者中,癫痫发作反应和电图反应比其他情况更好。与其他疗法相比,苯二氮卓类药物(P=0.001)和类固醇类药物(P=0.001)联合治疗儿童的临床和电图改善的可能性更高。
结论:这项研究显示遗传/代谢原因的患病率更高,并提示类固醇和苯二氮卓类药物联合治疗在D/EE-SWAS中的疗效更好。需要严格评估治疗方案和结果的前瞻性研究。
OBJECTIVE: To investigate the clinical features of developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS), its electrographic characteristics, and etiology and to compare the effects of different treatment strategies on the outcomes using a Saudi Arabian database.
METHODS: This multicenter study included children with D/EE-SWAS who were evaluated between 2010 and 2020 at 11 tertiary centers. Data were collected on their baseline clinical features, etiologies, and treatment modalities. Seizure reduction, spike-wave index, and cognitive state were examined as potential therapeutic outcomes.
RESULTS: Ninety-one children were diagnosed with D/EE-SWAS, with a median age of 7 years (IQR: 3-5) and an almost equal sex distribution. The average age at which epilepsy was diagnosed was 3 years (IQR: 5-2). A genetic/metabolic etiology was found in 35.1% of the patients, and a structural etiology was found in 27.4%. Children with underlying genetic/metabolic diseases exhibited an earlier seizure onset (P = 0.001) than children with other etiologies. Benzodiazepines (76.6%) were the most common treatment, followed by steroids (51.9%). Sodium valproate (75%) was the most frequently used antiseizure medication, followed by levetiracetam (64.9%). Children with a later seizure onset were more likely to have better clinical responses (P = 0.046), EEG responses (P = 0.012), and cognitive outcomes (P = 0.006) than children with an earlier onset. Moreover, better seizure response and electrographic response were seen in patients with bilateral interictal discharges on the EEG than otherwise. Children had a higher likelihood of both clinical and electrographic improvement with combination therapy of benzodiazepines (P = 0.001) and steroids (P = 0.001) than with other therapies.
CONCLUSIONS: This study shows a higher prevalence of genetic/metabolic causes and suggests the superior efficacy of combination therapy with steroids and benzodiazepines in D/EE-SWAS. Prospective studies that strictly assess the treatment protocols and outcomes are needed.