Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS)

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY Neurophysiologie Clinique/Clinical Neurophysiology Pub Date : 2023-02-01 DOI:10.1016/j.neucli.2023.102861

Gunes Sager , Gulnur Takis , Zeynep Vatansever Pinar , Hanife Duzkalir , Ayberk Turkyilmaz , Yakup Çağ , Yasemin Akin

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Abstract

Objectives

Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) or the newly named Epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) is a syndrome in which epileptiform abnormalities are associated with the progressive impairment of cognitive functions. This study aimed to evaluate the neurocognitive executive functions of patients at later ages and determine the long-term prognosis of the condition, as well as the factors affecting this.

Methods

This is a hospital-based cross-sectional study of 17 patients with a diagnosis of CSWS, and a minimum age of 7.5 years. The Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) was used for neurocognitive assessment. The use of immunotherapy (intravenous immunoglobulin and/or steroid for at least 6 months) at the time of initial diagnosis, baseline activity and spike wave index (SWI) of the last wake and sleep EEG, cranial MRI findings, active epileptic seizures since the last examination, and WISC-IV parameters were statistically compared. The results of patients with genetic etiology determined by the whole exome sequencing (WES) method are also reported.

Results

A total of 17 patients were included in the study, with a mean age of 10.30 ± 3.15 years (range from 7.9 to 15.8 years). The mean full scale IQ score of the subjects was 61.41 ± 17.81 (range 39–91), classified as follows: 5.9% (n = 1), average; 23.5% (n = 4), low average; 5.9% (n = 1), very low; 35.3% (n = 6), extremely low (upper range); 29.4% (n = 5), extremely low (lower range) intelligence. Among the four domains of WISC-IV, the most affected index was the Working Memory Index (WMI). EEG parameters, cranial MRI findings and treatment with immunotherapy did not have a significant effect on neurocognitive outcomes. Thirteen patients (76%) were evaluated with WES for a genetic etiology. Pathogenic variants in 5 different genes (GRIN2A, SLC12A5, SCN1A, SCN8A, ADGRV1) associated with epilepsy were detected in 5/13 patients (38%).

Conclusion

These results indicated that neurocognition is highly affected in the long term in CSWS.

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睡眠中伴有连续棘波和波动的癫痫性脑病（CSWS）/睡眠中伴有棘波和波浪激活的癫痫性脑炎（EE-SWAS）患者的长期神经认知功能评估

目的睡眠中持续棘波激活的癫痫性脑病（CSWS）或新命名的睡眠中棘波激活癫痫性脑病是一种癫痫样异常与认知功能进行性损害相关的综合征。本研究旨在评估患者后期的神经认知执行功能，并确定该疾病的长期预后，以及影响预后的因素。方法这是一项基于医院的横断面研究，共有17名诊断为CSWS的患者，最低年龄为7.5岁。韦氏儿童智力量表第四版（WISC-IV）用于神经认知评估。对初次诊断时免疫疗法（静脉注射免疫球蛋白和/或类固醇至少6个月）的使用、最后一次清醒和睡眠脑电图的基线活动和棘波指数（SWI）、颅骨MRI检查结果、自最后一次检查以来的活动性癫痫发作以及WISC-IV参数进行统计比较。还报道了通过全外显子组测序（WES）方法确定遗传病因的患者的结果。结果本研究共纳入17例患者，平均年龄为10.30±3.15岁（7.9～15.8岁）。受试者的平均全量表IQ得分为61.41±17.81（范围39–91），分类如下：平均5.9%（n=1）；23.5%（n=4），平均值偏低；5.9%（n=1），非常低；35.3%（n=6），极低（上限）；29.4%（n=5），智力极低（范围较低）。在WISC-IV的四个领域中，受影响最大的是工作记忆指数（WMI）。脑电图参数、颅骨MRI检查结果和免疫治疗对神经认知结果没有显著影响。13名患者（76%）接受了WES遗传病因评估。在5/13例（38%）患者中检测到与癫痫相关的5个不同基因（GRIN2A、SLC12A5、SCN1A、SCN8A、ADGRV1）的致病性变异。

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来源期刊

Neurophysiologie Clinique/Clinical Neurophysiology 医学-临床神经学

CiteScore

5.20

自引率

3.30%

发文量

审稿时长

60 days

期刊介绍： Neurophysiologie Clinique / Clinical Neurophysiology (NCCN) is the official organ of the French Society of Clinical Neurophysiology (SNCLF). This journal is published 6 times a year, and is aimed at an international readership, with articles written in English. These can take the form of original research papers, comprehensive review articles, viewpoints, short communications, technical notes, editorials or letters to the Editor. The theme is the neurophysiological investigation of central or peripheral nervous system or muscle in healthy humans or patients. The journal focuses on key areas of clinical neurophysiology: electro- or magneto-encephalography, evoked potentials of all modalities, electroneuromyography, sleep, pain, posture, balance, motor control, autonomic nervous system, cognition, invasive and non-invasive neuromodulation, signal processing, bio-engineering, functional imaging.