Falsaperla Raffaele, Sciuto Sarah, Privitera Grete Francesca, Tardino Lucia Giovanna, Costanza Giuseppe, Di Nora Alessandra, Caraballo Roberto Horacio, Ruggieri Martino
Unit of Pediatrics and Pediatric Emergency, University Hospital Policlinico "Rodolico-San Marco", Catania, Italy.
Unit of Neonatal Intensive Care and Neonatology, University Hospital Policlinico "Rodolico-San Marco", Catania, Italy.
Front Neurol. 2023 Jun 9;14:1204844. doi: 10.3389/fneur.2023.1204844. eCollection 2023.
Epileptic spasms are a type of seizure defined as a sudden flexion or extension predominantly of axial and/or truncal limb muscles that occur with a noticeable periodicity. Routine electroencephalogram supports the diagnosis of epileptic spasms, which can occur due to different causes. The present study aimed to evaluate a possible association between the electro-clinical pattern and the underlying etiology of epileptic spasms in infants.
We retrospectively reviewed the clinical and video-EEG data on 104 patients (aged from 1 to 22 months), admitted to our tertiary hospital in Catania and the tertiary hospital in Buenos Aires, from January 2013 to December 2020, with a confirmed diagnosis of epileptic spasms. We divided the patient sample into structural, genetic, infectious, metabolic, immune, and unknown, based on etiology. Fleiss' kappa (К) was used to assess agreement among raters in the electroencephalographic interpretation of hypsarrhythmia. A multivariate and bivariate analysis was conducted to understand the role of the different video-EEG variables on the etiology of epileptic spasms. Furthermore, decision trees were constructed for the classification of variables.
The results showed a statistically significant correlation between epileptic spasms semiology and etiology: flexor spasms were associated with spasms due to genetic cause (87.5%; OR < 1); whereas mixed spasms were associated with spasms from a structural cause (40%; OR < 1). The results showed a relationship between ictal and interictal EEG and epileptic spasms etiology: 73% of patients with slow waves and sharp waves or slow waves on the ictal EEG, and asymmetric hypsarrhythmia or hemi hypsarrhythmia on the interictal EEG, had spasms with structural etiology, whereas 69% of patients with genetic etiology presented typical interictal hypsarrhythmia with high-amplitude polymorphic delta with multifocal spike or modified hypsarrhythmia on interictal EEG and slow waves on the ictal EEG.
This study confirms that video-EEG is a key element for the diagnosis of epileptic spasms, also playing an important role in the clinical practice to determine the etiology.
癫痫性痉挛是一种发作类型，定义为主要是轴性和/或躯干肢体肌肉突然屈曲或伸展，发作具有明显的周期性。常规脑电图有助于癫痫性痉挛的诊断，其可由不同原因引起。本研究旨在评估婴儿癫痫性痉挛的电临床模式与潜在病因之间的可能关联。
我们回顾性分析了2013年1月至2020年12月期间在卡塔尼亚的三级医院和布宜诺斯艾利斯的三级医院收治的104例确诊为癫痫性痉挛的患者（年龄1至22个月）的临床和视频脑电图数据。根据病因，我们将患者样本分为结构性、遗传性、感染性、代谢性、免疫性和不明原因组。使用Fleiss卡方检验（К）评估评分者在脑电图高幅失律解读中的一致性。进行多变量和双变量分析以了解不同视频脑电图变量在癫痫性痉挛病因中的作用。此外，构建决策树对变量进行分类。
结果显示癫痫性痉挛的症状学与病因之间存在统计学显著相关性：屈肌痉挛与遗传原因导致的痉挛相关（87.5%；比值比＜1）；而混合性痉挛与结构性原因导致的痉挛相关（40%；比值比＜1）。结果显示发作期和发作间期脑电图与癫痫性痉挛病因之间存在关联：发作期脑电图有慢波和尖波或慢波，发作间期脑电图有不对称高幅失律或半侧高幅失律的患者中，73%的痉挛由结构性病因引起，而69%的遗传病因患者在发作间期脑电图上表现为典型的高幅失律，伴有高波幅多形性δ波和多灶性棘波或发作间期脑电图上的改良高幅失律以及发作期脑电图上的慢波。
本研究证实视频脑电图是癫痫性痉挛诊断的关键要素，在临床实践中确定病因方面也发挥着重要作用。
