Unveiling the disease progression in developmental and epileptic encephalopathies: Insights from EEG and neuropsychology

IF 6.6 1区医学 Q1 CLINICAL NEUROLOGY

Epilepsia Pub Date : 2024-09-17 DOI:10.1111/epi.18127

Paolo Surdi, Marina Trivisano, Angela De Dominicis, Mattia Mercier, Ludovica Maria Piscitello, Giusy Carfì Pavia, Costanza Calabrese, Simona Cappelletti, Cinzia Correale, Luigi Mazzone, Federico Vigevano, Nicola Specchio

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Abstract

Objective

Developmental and epileptic encephalopathies (DEEs) are neurological disorders characterized by developmental impairment and epilepsy. Our study aims to assess disease progression by comparing clinical findings, electroencephalography (EEG), and neuropsychological data from seizure onset to the last follow-up evaluation.

Methods

We retrospectively reviewed patients with genetic DEEs who were followed-up at the epilepsy unit of Bambino Gesù Children's Hospital, Rome. We collected information regarding gender, family history, genetic variant, age at onset and at last follow-up, neurological examination, type of seizure, drug resistance, occurrence of status epilepticus, and movement and cognitive and behavioral disorders. We compared EEG background activity, epileptiform abnormalities, and cognitive functions between seizure onset and the last follow-up evaluation using the McNemar-Bowker test (α = 5%).

Results

A total of 160 patients (94 female) were included. Genetic analysis revealed a spectrum of pathogenic variants, with SCN1A being the most prevalent (25%). The median age at seizure onset and at the last follow-up was 0.37 (interquartile range [IQR]: 0.09–0.75) and 8.54 years (IQR: 4.32–14.55), respectively. We documented a statistically significant difference in EEG background activity (p = .017) and cognitive impairment (p = .01) from seizure onset to the last follow-up evaluation. No significant differences were detected for epileptiform abnormalities (p = .2). In addition, high prevalence rates were observed for drug resistance (81.9%), movement disorders (60.6%), behavioral and autism spectrum disorders (45%), neurological deficits (31.3%), and occurrence of status epilepticus (23.1%).

Significance

Our study provides evidence that a clinical progression may appear in genetic DEEs, manifesting as development or worsening of cognitive impairment and disruption of EEG background activity. These results highlight the challenging clinical course and the importance of early intervention and personalized care in the management of patients with DEEs.

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揭示发育性和癫痫性脑病的疾病进展：脑电图和神经心理学的启示

目的发育性和癫痫性脑病（DEEs）是一种以发育障碍和癫痫为特征的神经系统疾病。我们的研究旨在通过比较从癫痫发作开始到最后一次随访评估期间的临床结果、脑电图（EEG）和神经心理学数据来评估疾病的进展。我们收集了有关性别、家族史、基因变异、发病年龄和最后一次随访时的年龄、神经系统检查、癫痫发作类型、耐药性、癫痫状态的发生以及运动、认知和行为障碍等方面的信息。我们使用 McNemar-Bowker 检验（α = 5%）比较了发作开始与最后一次随访评估之间的脑电图背景活动、癫痫样异常和认知功能。基因分析显示了一系列致病变异，其中以SCN1A最为常见（25%）。癫痫发作时和最后一次随访时的中位年龄分别为 0.37 岁（四分位间距 [IQR]：0.09-0.75）和 8.54 岁（IQR：4.32-14.55）。我们发现，从癫痫发作到最后一次随访评估期间，脑电图背景活动（p = .017）和认知障碍（p = .01）的差异具有统计学意义。在癫痫样异常方面未发现明显差异（p = .2）。此外，还观察到耐药性（81.9%）、运动障碍（60.6%）、行为障碍和自闭症谱系障碍（45%）、神经功能缺损（31.3%）和癫痫状态（23.1%）的高患病率。这些结果突显了具有挑战性的临床过程，以及早期干预和个性化护理在DEEs患者管理中的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Epilepsia 医学-临床神经学

CiteScore

10.90

自引率

10.70%

发文量

319

审稿时长

2-4 weeks

期刊介绍： Epilepsia is the leading, authoritative source for innovative clinical and basic science research for all aspects of epilepsy and seizures. In addition, Epilepsia publishes critical reviews, opinion pieces, and guidelines that foster understanding and aim to improve the diagnosis and treatment of people with seizures and epilepsy.