Thaher Dana, Alkfaween Abdullah, Benini Ruba
Department of Pediatrics, Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Weil-Cornell Medical College Qatar, Doha, Qatar.
J Child Neurol. 2025 Aug;40(7):519-529. doi: 10.1177/08830738251326631. Epub 2025 Mar 29.
Infantile epileptic spasms syndrome is an epileptic encephalopathy with poor prognosis. To describe clinical features and predictors of unfavorable outcomes of infantile epileptic spasms syndrome in a multiancestry cohort. Retrospective cross-sectional chart review analysis at a single tertiary pediatric hospital in 56 patients with infantile epileptic spasms syndrome. Fifty-nine percent were males. Most patients (57%) were from the Middle East North African region. The mean age at onset of spasms was 6.6 months (±3.5 mo). At presentation, 80% of patients had a preexisting neurologic disorder, an abnormal development (66%), and/or an abnormal neurologic examination (73%). Hypsarrhythmia on electroencephalography (EEG) was reported in 55% of patients. Etiology was identified in 75%. Abnormalities on neuroimaging were common (70%), and 54% had abnormal genetic testing. The preferred first-line treatment was vigabatrin (66%) followed by high-dose oral steroids (16%). Only a minority (∼30%) experienced complete resolution of their epileptic spasms/hypsarrhythmia by 2 weeks. At the last follow-up, 84% of patients had an abnormal development and 40% were still on antiseizure medications. Comorbidities were common (75%). The majority of patients had unfavorable outcomes, including abnormal development (84%) and/or drug-resistant epilepsy (45%). Preexisting abnormal development/neurologic examination or neurologic conditions, perinatal risk factors, neuroimaging abnormalities, and an identified etiology were associated with increased odds ratios for unfavorable developmental outcomes or drug-resistant epilepsy. Clinical features and outcomes of infantile epileptic spasms syndrome in this multiancestry cohort confirms findings of previous epidemiologic studies, recognizes some differences, and highlights risk factors that can be used for early identification of patients with predicted unfavorable outcomes.
婴儿痉挛症综合征是一种预后不良的癫痫性脑病。描述多血统队列中婴儿痉挛症综合征的临床特征及不良预后的预测因素。在一家三级儿科专科医院对56例婴儿痉挛症综合征患者进行回顾性横断面图表审查分析。59%为男性。大多数患者（57%）来自中东和北非地区。痉挛发作的平均年龄为6.6个月（±3.5个月）。就诊时，80%的患者已有神经疾病、发育异常（66%）和/或神经检查异常（73%）。55%的患者脑电图（EEG）显示高峰失律。75%的患者病因明确。神经影像学异常常见（70%），54%的患者基因检测异常。首选一线治疗药物是氨己烯酸（66%），其次是大剂量口服类固醇（16%）。只有少数患者（约30%）在2周内癫痫痉挛/高峰失律完全缓解。在最后一次随访时，84%的患者存在发育异常，40%的患者仍在服用抗癫痫药物。合并症常见（75%）。大多数患者预后不良，包括发育异常（84%）和/或药物难治性癫痫（45%）。既往发育异常/神经检查或神经疾病、围产期危险因素、神经影像学异常和明确的病因与不良发育结局或药物难治性癫痫的比值增加有关。该多血统队列中婴儿痉挛症综合征的临床特征和结局证实了既往流行病学研究的结果，认识到一些差异，并突出了可用于早期识别预后不良患者的危险因素。
