Öz Yıldız Sibel, Günbey Ceren, Karlı Oğuz Kader, Konuşkan Gökçen, Haliloğlu Göknur, Yalnızoğlu Dilek
Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara, , Türkiye.
Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara, , Türkiye.
Seizure. 2025 Sep;131:203-211. doi: 10.1016/j.seizure.2025.06.010. Epub 2025 Jun 13.
This study aimed to analyze the clinical characteristics, etiology, neuroimaging, treatment, neurocognitive and EEG outcomes of patients with developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (D/EE-SWAS).
Patients diagnosed with D/EE-SWAS, between 2014 and 2021, with a spike-wave index (SWI) ≥50 % in NREM sleep EEG, were analyzed retrospectively. Outcome measures included neurocognitive assessment, SWI, and seizure frequency.
A total of 80 patients were included. Median age at initial admission was 43.5 (0.03-148) months, with seizures as the main symptom in 66 (82.5 %) patients. Median age at D/EE-SWAS onset and follow-up was 92.5 (21.3-193.6), and 86.9 (12-204) months, respectively. At diagnosis, 56 patients had seizures (focal: 13, generalized: 43). Unknown group (36; 45 %) constituted the most common etiology. There was a shift towards benzodiazepines, mostly as a combination therapy, in 58 (72.5 %). At the final visit, 38 (47.5 %) of the patients had favorable cognitive outcome which was correlated with older epilepsy onset (≥3 years), normal neurological examination, unknown etiology, seizure freedom during D/EE-SWAS, normal EEG background, fewer ASMs, shorter D/EE-SWAS duration, SWI response, decreased seizure frequency, and SWAS resolution. EEG recovery occurred in 48 (60 %) (median duration: 24 months), with 12(15 %) achieving complete resolution. Of the patients, 38 (47.5 %) were seizure-free at the end of the study period.
Baseline neurologic examination, age at onset of epilepsy/D/EE-SWAS, etiology, and number of ASMs at diagnosis had an impact on outcomes. Etiology and number of ASMs may serve as parameters to predict treatment response, and underscore the need for tailored approaches for D/EE-SWAS.
本研究旨在分析睡眠中棘波-慢波激活的发育性和/或癫痫性脑病（D/EE-SWAS）患者的临床特征、病因、神经影像学、治疗、神经认知和脑电图结果。
回顾性分析2014年至2021年间诊断为D/EE-SWAS且非快速眼动睡眠脑电图中棘慢波指数（SWI）≥50%的患者。结果指标包括神经认知评估、SWI和癫痫发作频率。
共纳入80例患者。首次入院时的中位年龄为43.5（0.03 - 148）个月，66例（82.5%）患者以癫痫发作为主要症状。D/EE-SWAS发病和随访时的中位年龄分别为92.5（21.3 - 193.6）和86.9（12 - 204）个月。诊断时，56例患者有癫痫发作（局灶性：13例，全身性：43例）。病因不明组（36例；45%）是最常见的病因。58例（72.5%）患者逐渐转向使用苯二氮䓬类药物，大多作为联合治疗。在最后一次随访时，38例（47.5%）患者有良好的认知结果，这与癫痫发作起始年龄较大（≥3岁）、神经系统检查正常、病因不明、D/EE-SWAS期间无癫痫发作、脑电图背景正常、抗癫痫药物（ASM）使用较少、D/EE-SWAS持续时间较短、SWI反应、癫痫发作频率降低和SWAS缓解相关。48例（60%）患者脑电图恢复（中位持续时间：24个月），12例（15%）完全缓解。在研究期结束时，38例（47.5%）患者无癫痫发作。
基线神经系统检查、癫痫/ D/EE-SWAS发病年龄、病因以及诊断时ASM的数量对结果有影响。病因和ASM的数量可作为预测治疗反应的参数，并强调对D/EE-SWAS需要采取个体化治疗方法。
