{"title":"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","authors":"Gunes Sager , Gulnur Takis , Zeynep Vatansever Pinar , Hanife Duzkalir , Ayberk Turkyilmaz , Yakup Çağ , Yasemin Akin","doi":"10.1016/j.neucli.2023.102861","DOIUrl":null,"url":null,"abstract":"<div><h3>Objectives</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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% (<em>n</em> = 1), average; 23.5% (<em>n</em> = 4), low average; 5.9% (<em>n</em> = 1), very low; 35.3% (<em>n</em> = 6), extremely low (upper range); 29.4% (<em>n</em> = 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 (<em>GRIN2A, SLC12A5, SCN1A, SCN8A, ADGRV1</em>) associated with epilepsy were detected in 5/13 patients (38%).</p></div><div><h3>Conclusion</h3><p>These results indicated that neurocognition is highly affected in the long term in CSWS.</p></div>","PeriodicalId":19134,"journal":{"name":"Neurophysiologie Clinique/Clinical Neurophysiology","volume":"53 1","pages":"Article 102861"},"PeriodicalIF":2.7000,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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)\",\"authors\":\"Gunes Sager , Gulnur Takis , Zeynep Vatansever Pinar , Hanife Duzkalir , Ayberk Turkyilmaz , Yakup Çağ , Yasemin Akin\",\"doi\":\"10.1016/j.neucli.2023.102861\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objectives</h3><p>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.</p></div><div><h3>Methods</h3><p>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.</p></div><div><h3>Results</h3><p>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% (<em>n</em> = 1), average; 23.5% (<em>n</em> = 4), low average; 5.9% (<em>n</em> = 1), very low; 35.3% (<em>n</em> = 6), extremely low (upper range); 29.4% (<em>n</em> = 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 (<em>GRIN2A, SLC12A5, SCN1A, SCN8A, ADGRV1</em>) associated with epilepsy were detected in 5/13 patients (38%).</p></div><div><h3>Conclusion</h3><p>These results indicated that neurocognition is highly affected in the long term in CSWS.</p></div>\",\"PeriodicalId\":19134,\"journal\":{\"name\":\"Neurophysiologie Clinique/Clinical Neurophysiology\",\"volume\":\"53 1\",\"pages\":\"Article 102861\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2023-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurophysiologie Clinique/Clinical Neurophysiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0987705323000187\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurophysiologie Clinique/Clinical Neurophysiology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0987705323000187","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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)
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.
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.
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