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Risk of epilepsy in pediatric patients with febrile seizures: Insights from nationwide registry data in Korea
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-05 DOI: 10.1016/j.seizure.2025.01.006
Eu Gene Park , Il Han Yoo

Purpose

The incidence of epilepsy following febrile seizures (FS) is estimated at 2 %–7 %. Early identification of children at risk of epilepsy could have clinical implications, as these children may require special attention. This study investigated epilepsy incidence in children with FS and identified risk factors that increase the likelihood of developing epilepsy in Korea.

Methods

This nationwide, population-based study used data from the Korean Health Insurance Review and Assessment Service database. Patients aged 6 months to <6 years at their first visit between January 2010 and June 2013 with primary, secondary, or additional FS diagnostic codes were selected. Patient demographics, diagnostic codes, and prescriptions were retrieved from the database.

Results

A total of 130,248 patients diagnosed with FS were identified. During a median follow-up period of 11.8 years (interquartile range, 11.0–12.8), 3,047 patients (2.3 %) were subsequently diagnosed with epilepsy, while 127,201 patients (97.7 %) did not develop epilepsy. A higher number of FS episodes (2 episodes, odds ratio (OR) 1.61; 3 episodes, OR 2.17; 4 episodes, OR 2.40; 5+ episodes, OR 4.85) and prolonged FS (OR 25.82) were associated with increased epilepsy risk (p < 0.05). Epilepsy was most common during toddler and preschool years (2,049/3,047, 67.2 %), while it was relatively low during adolescence (141/3,047, 4.6 %).

Conclusion

Recognizing the risk factors and age distribution of epilepsy onset can assist clinicians in identifying children at high risk early, facilitating targeted monitoring and timely intervention. This approach may ultimately reduce unnecessary investigations and optimize follow-up for children with FS.
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引用次数: 0
Author's reply (Seizure-D-24-00,817).
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-02 DOI: 10.1016/j.seizure.2024.12.015
Magdalena Bosak
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引用次数: 0
Network-based biomarkers in background electroencephalography in childhood epilepsies—A scoping review and narrative synthesis 儿童癫痫背景脑电图中基于网络的生物标志物-范围综述和叙述综合。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.11.011
Kay Meiklejohn , Leandro Junges , John R. Terry , Alison Whight , Rohit Shankar , Wessel Woldman

Background

Brain network analysis is an emerging field of research that could lead to the development, testing and validation of novel biomarkers for epilepsy. This could shorten the diagnostic uncertainty period, improve treatment, decrease seizure risk and lead to better management. This scoping review summarises the current state of electroencephalogram (EEG)-based network abnormalities for childhood epilepsies. The review assesses the overall robustness, potential generalisability, strengths, and limitations of the methodological frameworks of the identified research studies.

Reporting Methods

PRISMA guidelines for Scoping Reviews and the PICO framework was used to guide this review. Studies that evaluated candidate network-based features from EEG in children were retrieved from four international indexing databases (Cochrane Central / Embase / MEDLINE/ PsycINFO). Each selected study design, intervention characteristics, methodological design, potential limitations, and key findings were analysed.

Results

Of 2,959 studies retrieved, nine were included. Studies used a group-level based comparison (e.g. based on a statistical test) or a classification-based method (e.g. based on a statistical model, such as a decision tree). A common limitation was the small sample-sizes (limiting further subgroup or confounder analysis) and the overall heterogeneity in epilepsy syndromes and age groups.

Conclusion

The heterogeneity of included studies (e.g. study design, statistical framework, outcome metrics) highlights the need for future studies to adhere to standardised frameworks (e.g. STARD) in order to develop standardised and robust methodologies. This would enable rigorous comparisons between studies, which is critical in assessing the potential of network-based approaches in developing novel biomarkers for childhood epilepsies.
背景:脑网络分析是一个新兴的研究领域,它可能导致癫痫的新型生物标志物的开发、测试和验证。这可以缩短诊断的不确定期,改善治疗,降低癫痫发作的风险,并导致更好的管理。本文综述了儿童癫痫的脑电图(EEG)为基础的网络异常的现状。本综述评估了已确定研究的方法框架的总体稳健性、潜在的普遍性、优势和局限性。报告方法:使用PRISMA范围审查指南和PICO框架来指导本次审查。评估儿童脑电图候选网络特征的研究从四个国际索引数据库(Cochrane Central / Embase / MEDLINE/ PsycINFO)中检索。分析了每个选定的研究设计、干预特征、方法学设计、潜在局限性和主要发现。结果:在检索到的2959项研究中,纳入了9项。研究使用了基于群体水平的比较(如基于统计检验)或基于分类的方法(如基于统计模型,如决策树)。一个常见的限制是样本量小(限制了进一步的亚组或混杂分析)以及癫痫综合征和年龄组的总体异质性。结论:纳入研究的异质性(如研究设计、统计框架、结果指标)突出了未来研究坚持标准化框架(如STARD)的必要性,以开发标准化和可靠的方法。这将使研究之间能够进行严格的比较,这对于评估基于网络的方法在开发儿童癫痫新生物标志物方面的潜力至关重要。
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引用次数: 0
Does treatment in an epilepsy clinic affect epilepsy-related admissions? 癫痫诊所的治疗会影响与癫痫相关的入院治疗吗?
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.006
Revital Gandelman-Marton , Jacques Theitler

Background

Epilepsy-related emergency hospitalizations are associated with risks to patients. Neurologist ambulatory care can improve seizure control and decrease the rates of ED visits and emergency hospitalizations.

Aims

To evaluate the etiologies for emergency epilepsy-related admissions in patients with and without prior epilepsy clinic follow-up, and to identify possible factors that may influence admission rates.

Methods

A retrospective review of the computerized database and the medical records of all the people with epilepsy who presented to our outpatient epilepsy clinic following an epilepsy-related admission during a 10-year period (2012 - 2021).

Results

The study group included 134 patients with epilepsy aged 18- 85 years who presented to our outpatient epilepsy clinic following an epilepsy-related admission. Patients with pre-admission follow up in the epilepsy clinic (n = 67) were less likely to have epilepsy-related admissions during subsequent post-admission follow-up (p = 0.024), had fewer prior admissions related to antiseizure medication (ASM) discontinuation, ASM nonadherence or sub-therapeutic ASM serum levels (p = 0.038), were more likely to continue epilepsy clinic follow-up (p = 0.036), and received more ASMs before admission (p = 0.0001), at the first post-admission visit (p = 0.0001) and at last follow-up (p = 0.015).

Conclusions

Epilepsy clinic follow-up may affect the rate of epilepsy and ASM related admissions. Further studies are needed to evaluate the effects of ASM polytherapy and possibly higher doses of ASMs on the rates of epilepsy-related admissions.
背景:癫痫相关的紧急住院与患者的风险相关。神经科门诊护理可以改善癫痫控制,降低急诊科就诊和急诊住院率。目的:评估有和没有癫痫临床随访的患者急诊癫痫相关入院的病因,并确定可能影响入院率的因素。方法:回顾性分析10年(2012 - 2021年)期间所有癫痫相关入院的癫痫门诊患者的计算机数据库和病历。结果:研究组包括134例18- 85岁的癫痫患者,他们在癫痫相关住院后到我们的门诊癫痫诊所就诊。在癫痫门诊接受入院前随访的患者(n = 67)在随后的入院后随访中发生癫痫相关入院的可能性较低(p = 0.024),与抗癫痫药物(ASM)停药、抗癫痫药物不依从或亚治疗性ASM血清水平相关的入院率较低(p = 0.038),继续癫痫门诊随访的可能性较高(p = 0.036),入院前接受抗癫痫药物治疗的可能性较高(p = 0.0001)。入院后第一次访视(p = 0.0001)和最后一次随访(p = 0.015)。结论:癫痫临床随访可能影响癫痫发生率和ASM相关入院率。进一步的研究需要评估ASM综合治疗和可能更高剂量ASM对癫痫相关入院率的影响。
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引用次数: 0
Evidence of small vessel disease in patients with juvenile myoclonic epilepsy based on the peak width of skeletonized mean diffusivity 根据骨架化平均扩散率峰值宽度得出的幼年肌阵挛性癫痫患者小血管疾病的证据。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.003
Dong Ah Lee , Ho-Joon Lee , Kang Min Park

Objectives

Peak width of skeletonized mean diffusivity (PSMD) is a novel marker of white matter changes probably due to small vessel disease. This study aimed to investigate the presence of white matter changes in juvenile myoclonic epilepsy (JME) using PSMD.

Methods

We enrolled patients with JME and age- and sex-matched healthy controls. We performed diffusion tensor imaging (DTI) using a three tesla magnetic resonance imaging scanner. We measured the PSMD based on DTI in several steps, including preprocessing, skeletonization, application of a custom mask, and histogram analysis, using the FSL program. We compared the PSMD between patients with JME and healthy controls and the PSMD according to the antiseizure medication (ASM) response among the patients with JME. We also performed a correlation analysis between the PSMD and clinical factors in patients with JME.

Results

We enrolled the 42 patients with newly diagnosed JME and 42 healthy controls. There was a significant difference in the PSMD between patients with JME and healthy controls. PSMD was higher in patients with JME than in healthy controls (2.234 vs. 2.085 × 10–4 mm2/s, p = 0.013). In addition, the PSMD was higher in patients with JME who were ASM poor responders than in those who were ASM good responders (2.586 vs. 2.176 × 10–4 mm2/s, p = 0.007). The PSMD was positively correlated with age (r = 0.364, p = 0.017).

Conclusion

Patients with JME have a higher PSMD than healthy controls, indicating evidence of white matter changes in patients with JME. In addition, white matter changes are related to the ASM response in patients with JME. This finding also highlights the potential of PSMD as a marker for detecting white matter changes probably due to small vessel disease in patients with epilepsy, which would require further studies.
目的:骨架化平均扩散率峰值宽度(PSMD)是一种新的白质变化标志物,可能由小血管疾病引起。本研究旨在利用 PSMD 调查幼年肌阵挛性癫痫(JME)患者的白质变化:方法:我们招募了青少年肌阵挛性癫痫患者以及年龄和性别匹配的健康对照组。我们使用三特斯拉磁共振成像扫描仪进行了弥散张量成像(DTI)。我们使用 FSL 程序分几个步骤测量了基于 DTI 的 PSMD,包括预处理、骨骼化、应用自定义遮罩和直方图分析。我们比较了 JME 患者和健康对照组的 PSMD,以及 JME 患者根据抗癫痫药物(ASM)反应得出的 PSMD。我们还对JME患者的PSMD和临床因素进行了相关分析:我们招募了42名新确诊的JME患者和42名健康对照者。JME患者与健康对照组的PSMD存在明显差异。JME患者的PSMD高于健康对照组(2.234 vs. 2.085 × 10-4 mm2/s,p = 0.013)。此外,ASM反应差的JME患者的PSMD高于ASM反应好的患者(2.586 vs. 2.176 × 10-4 mm2/s,p = 0.007)。PSMD与年龄呈正相关(r = 0.364,p = 0.017):结论:JME患者的PSMD高于健康对照组,这表明JME患者的白质发生了变化。此外,白质变化与JME患者的ASM反应有关。这一发现还凸显了PSMD作为检测癫痫患者可能因小血管疾病引起的白质变化的标志物的潜力,这还需要进一步研究。
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引用次数: 0
Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases 海马深部脑刺激治疗耐药癫痫:来自双侧颞叶和后部癫痫病例的见解。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.11.018
Seung Ho Choo , Hea Ree Park , Seunghoon Lee , Jung-Il Lee , Eun Yeon Joo , Dae-Won Seo , Seung Bong Hong , Young-Min Shon

Purpose

This study evaluates the long-term efficacy of hippocampal deep brain stimulation (Hip-DBS) in patients with drug-resistant epilepsy (DRE), specifically focusing on bilateral temporal lobe epilepsy (BTLE) and posterior epilepsy (PE).

Methods

A retrospective analysis was conducted on 15 DRE patients (11 BTLE, 4 PE) who underwent bilateral Hip-DBS at Samsung Medical Center over an eight-year period. Medical records, seizure diaries, and neuropsychological assessments were reviewed. The surgical and follow-up protocols were adapted from our previous clinical research.

Results

The median seizure reduction rate was 77.8 % for disabling seizures (DS) and 47.9 % for non-disabling seizures (NDS). Subgroup analysis revealed a 77.8 % reduction in DS for BTLE patients and 68.8 % for PE patients. The overall responder rate was 86.7 % for DS and 50 % for NDS. Neuropsychological evaluations showed stable cognitive functions post-treatment, with a non-significant trend towards improvement in non-verbal and visuo-spatial cognitive domains.

Conclusion

This study provides preliminary evidence supporting the efficacy of Hip-DBS in reducing seizure frequency in both BTLE and PE patients, with a more pronounced effect on disabling seizures. The potential cognitive preservation and possible enhancement in specific domains warrant further investigation. Despite limitations such as the retrospective design and reliance on self-reported seizure frequencies, these findings encourage further exploration of Hip-DBS as a treatment modality for DRE, particularly in cases where resective surgery is contraindicated.
目的:本研究评估海马深部脑刺激(Hip-DBS)治疗耐药癫痫(DRE)患者的长期疗效,特别关注双侧颞叶癫痫(BTLE)和后叶癫痫(PE)。方法:回顾性分析三星医疗中心8年来接受双侧髋关节- dbs治疗的15例DRE患者(11例BTLE, 4例PE)。研究人员回顾了医疗记录、癫痫发作日记和神经心理学评估。手术和随访方案改编自我们之前的临床研究。结果:失能性发作(DS)和非失能性发作(NDS)的中位癫痫发作减少率分别为77.8%和47.9%。亚组分析显示BTLE患者DS降低77.8%,PE患者DS降低68.8%。DS和NDS的总有效率分别为86.7%和50%。神经心理评估显示治疗后认知功能稳定,非语言和视觉空间认知领域的改善趋势不显著。结论:本研究为髋- dbs降低BTLE和PE患者癫痫发作频率提供了初步证据,其中对致残性癫痫发作的效果更为明显。在特定领域的潜在认知保护和可能的增强值得进一步研究。尽管存在诸如回顾性设计和依赖于自我报告的癫痫发作频率等局限性,但这些发现鼓励进一步探索Hip-DBS作为DRE的治疗方式,特别是在切除手术禁忌的情况下。
{"title":"Hippocampal deep brain stimulation for drug-resistant epilepsy: Insights from bilateral temporal lobe and posterior epilepsy cases","authors":"Seung Ho Choo ,&nbsp;Hea Ree Park ,&nbsp;Seunghoon Lee ,&nbsp;Jung-Il Lee ,&nbsp;Eun Yeon Joo ,&nbsp;Dae-Won Seo ,&nbsp;Seung Bong Hong ,&nbsp;Young-Min Shon","doi":"10.1016/j.seizure.2024.11.018","DOIUrl":"10.1016/j.seizure.2024.11.018","url":null,"abstract":"<div><h3>Purpose</h3><div>This study evaluates the long-term efficacy of hippocampal deep brain stimulation (Hip-DBS) in patients with drug-resistant epilepsy (DRE), specifically focusing on bilateral temporal lobe epilepsy (BTLE) and posterior epilepsy (PE).</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted on 15 DRE patients (11 BTLE, 4 PE) who underwent bilateral Hip-DBS at Samsung Medical Center over an eight-year period. Medical records, seizure diaries, and neuropsychological assessments were reviewed. The surgical and follow-up protocols were adapted from our previous clinical research.</div></div><div><h3>Results</h3><div>The median seizure reduction rate was 77.8 % for disabling seizures (DS) and 47.9 % for non-disabling seizures (NDS). Subgroup analysis revealed a 77.8 % reduction in DS for BTLE patients and 68.8 % for PE patients. The overall responder rate was 86.7 % for DS and 50 % for NDS. Neuropsychological evaluations showed stable cognitive functions post-treatment, with a non-significant trend towards improvement in non-verbal and visuo-spatial cognitive domains.</div></div><div><h3>Conclusion</h3><div>This study provides preliminary evidence supporting the efficacy of Hip-DBS in reducing seizure frequency in both BTLE and PE patients, with a more pronounced effect on disabling seizures. The potential cognitive preservation and possible enhancement in specific domains warrant further investigation. Despite limitations such as the retrospective design and reliance on self-reported seizure frequencies, these findings encourage further exploration of Hip-DBS as a treatment modality for DRE, particularly in cases where resective surgery is contraindicated.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 57-65"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of anti-seizure medications on resting-state functional networks in juvenile myoclonic epilepsy: An EEG microstate analysis 抗癫痫药物对青少年肌阵挛性癫痫静息状态功能网络的影响:脑电图微态分析。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.004
Ying Li , Yibo Zhao , Yanan Chen , Mingxian Meng , Zhe Ren , Zongya Zhao , Na Wang , Ting Zhao , Beijia Cui , Mingmin Li , Jin Liu , Qi Wang , Jiuyan Han , Bin Wang , Xiong Han

Objective

Juvenile myoclonic epilepsy (JME) is associated with large-scale brain network dysfunction. This study aims to investigate how anti-seizure medication (ASM) treatment alters resting-state functional networks in JME patients through resting-state EEG microstate analysis.

Methods

Ninety-six subjects participated in this study: 24 healthy controls (HC), 29 newly diagnosed JME patients who had not started ASMs therapy (JME-NM), and 43 JME patients on ASMs treatment with effective seizure control (JME-M). EEG data were collected for 10 min while participants were awake and resting with their eyes closed, using a standard 19-channel recording system. EEG topographies were categorized into four microstate classes (A, B, C, D), and parameters such as mean duration, occurrence rate, time coverage, and transition probabilities between microstates were computed and compared among the three groups. Advanced statistical methods were employed to ensure the robustness and validity of the findings.

Results

Significant alterations in EEG microstate characteristics were observed in untreated JME patients (JME-NM) compared to both healthy controls and treated patients. Microstate B had a markedly reduced mean duration in the JME-NM group, while microstate A displayed an increased occurrence rate and greater time coverage. Transition probabilities between specific microstates, such as from A to C, A to D, and B to C, were also significantly different in the JME-NM group. The normalization of these parameters in the JME-M group suggests that ASMs effectively stabilize altered brain networks, potentially mitigating the pathophysiological disruptions associated with JME.

Conclusion

This study demonstrates that ASMs effectively normalize disruptions in sensory-motor and visual networks in JME patients. EEG microstate analysis provides a dynamic view of brain network alterations and offers potential as a biomarker for the diagnosis and monitoring of JME, as well as for evaluating treatment response. These findings advance our understanding of the neurophysiological mechanisms underlying JME.
目的:青少年肌阵挛性癫痫(JME)与大范围脑网络功能障碍有关。本研究旨在通过静息状态脑电图微态分析,探讨抗癫痫药物(ASM)治疗如何改变JME患者静息状态功能网络。方法:96例受试者:健康对照24例(HC),未开始抗痉挛治疗(JME- nm)的新诊断JME患者29例(JME- nm),接受抗痉挛治疗并有效控制发作(JME- m)的JME患者43例(JME- m)。使用标准的19通道记录系统,在参与者清醒和闭眼休息时收集10分钟的脑电图数据。将脑电地形分为A、B、C、D四种微状态,计算并比较三种微状态间的平均持续时间、发生率、时间覆盖、转移概率等参数。采用先进的统计方法,以确保研究结果的稳健性和有效性。结果:与健康对照组和治疗组相比,未经治疗的JME患者(JME- nm)的脑电图微状态特征发生了显著变化。在JME-NM组中,微状态B的平均持续时间明显缩短,而微状态a的发生率增加,时间覆盖范围更广。特定微观状态(如从A到C、从A到D、从B到C)之间的转移概率在JME-NM组中也有显著差异。JME- m组这些参数的正常化表明,asm有效地稳定了改变的大脑网络,潜在地减轻了与JME相关的病理生理破坏。结论:本研究表明,asm有效地使JME患者的感觉-运动和视觉网络的中断正常化。脑电图微状态分析提供了大脑网络变化的动态视图,并为JME的诊断和监测以及评估治疗反应提供了潜在的生物标志物。这些发现促进了我们对JME神经生理机制的理解。
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引用次数: 0
Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome 青少年癫痫患者斋月禁食:癫痫发作控制和行为结果。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.007
Rehab Magdy , Nirmeen Kishk , Salsabil Abo Al-Azayem , Mona Hussein , Imane A. Yassine , Mennat-Allah Tarek , Eman Hany Elsebaie , Mohamed A. Abdeltwab , Alshimaa S. Othman

Objectives

Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE

Methods

In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan. Three questionnaires were requested to be answered at the end of two months. They were Patient Health Questionnaire (PHQ-9), Modified Overt Aggression Scale (MOAS), and Barratt Impulsiveness Scale–Short Form (BIS-11-SF) for assessment of depression, aggression, and impulsivity, respectively

Results

One hundred twenty AWE, with a median age of 15 and IQR 13–17, were evaluated. There was a statistically significant reduction in seizure frequency regarding focal onset seizures during Ramadan compared to Shaaban (P 0.009), as well as generalized non-motor (absence) seizures (P 0.027). The MOAS-total scores significantly reduced during Ramadan than Shaaban (P 0.003), as well as the scores of non-planning impulsivity of BIS-11-SF (P 0.005). On the other hand, depression assessed by PHQ-9 did not significantly differ between the two months

Conclusion

Fasting Ramadan is associated with better control of multiple seizure types, including focal and generalized-onset non-motor (absence) seizures, besides psycho-behavioral aspects of aggression & non-planning impulsivity, without worsening of other seizure types nor depression, among AWE.
目的:关于斋月禁食对青少年癫痫(AWE)发作控制效果的数据很少。在这个青少年群体中也遇到了一些心理行为问题。方法:在这项前瞻性研究中,对2024年斋月期间完成斋戒的AWE患者在斋月期间(斋月前一个月)和斋月期间的每种类型的癫痫发作频率进行评估。要求在两个月结束时回答三份问卷。采用患者健康问卷(PHQ-9)、改良外显攻击量表(MOAS)和Barratt冲动性简易量表(BIS-11-SF)分别评估抑郁、攻击和冲动性。结果:共评估120名AWE患者,中位年龄15岁,IQR 13-17。与沙班相比,斋月期间局灶性癫痫发作频率有统计学意义的降低(P 0.009),以及全面性非运动(缺席)癫痫发作(P 0.027)。斋月期间moas总分显著低于斋月期间(P 0.003), BIS-11-SF非计划性冲动得分显著低于斋月期间(P 0.005)。结论:斋戒斋月能较好地控制包括局灶性和广泛性非运动性(失神)发作在内的多种发作类型,以及攻击性和非计划性冲动等心理行为方面的发作,且对AWE患者的其他发作类型和抑郁无加重作用。
{"title":"Ramadan fasting in adolescents with epilepsy: Seizure control and behavioral outcome","authors":"Rehab Magdy ,&nbsp;Nirmeen Kishk ,&nbsp;Salsabil Abo Al-Azayem ,&nbsp;Mona Hussein ,&nbsp;Imane A. Yassine ,&nbsp;Mennat-Allah Tarek ,&nbsp;Eman Hany Elsebaie ,&nbsp;Mohamed A. Abdeltwab ,&nbsp;Alshimaa S. Othman","doi":"10.1016/j.seizure.2024.12.007","DOIUrl":"10.1016/j.seizure.2024.12.007","url":null,"abstract":"<div><h3>Objectives</h3><div>Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE</div></div><div><h3>Methods</h3><div>In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan. Three questionnaires were requested to be answered at the end of two months. They were Patient Health Questionnaire (PHQ-9), Modified Overt Aggression Scale (MOAS), and Barratt Impulsiveness Scale–Short Form (BIS-11-SF) for assessment of depression, aggression, and impulsivity, respectively</div></div><div><h3>Results</h3><div>One hundred twenty AWE, with a median age of 15 and IQR 13–17, were evaluated. There was a statistically significant reduction in seizure frequency regarding focal onset seizures during Ramadan compared to Shaaban (P 0.009), as well as generalized non-motor (absence) seizures (P 0.027). The MOAS-total scores significantly reduced during Ramadan than Shaaban (P 0.003), as well as the scores of non-planning impulsivity of BIS-11-SF (P 0.005). On the other hand, depression assessed by PHQ-9 did not significantly differ between the two months</div></div><div><h3>Conclusion</h3><div>Fasting Ramadan is associated with better control of multiple seizure types, including focal and generalized-onset non-motor (absence) seizures, besides psycho-behavioral aspects of aggression &amp; non-planning impulsivity, without worsening of other seizure types nor depression, among AWE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 85-88"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family 一种新的CLN5突变引起的药物难治性癫痫:来自一个印度家庭的三例患者的报告。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.11.017
Shiny Joy , Ayush Agarwal , Jupita Handique , Mahino Fatima , Divyani Garg , Pooja Sharma , Roopa Rajan , Ajay Garg , Mohd Faruq , Achal K. Srivastava

Introduction

Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.

Methods

We have described 3 siblings with genetically confirmed novel pathogenic CLN5 subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).

Results

We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.

Conclusion

Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with CLN5 subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.
简介神经细胞钙样脂褐质沉着病(NCL)是一组溶酶体储积症,其特征是神经细胞和其他类型细胞的溶酶体中钙样脂色素的积累导致进行性神经变性。成人型 NCL(Kufs 病)与儿童型 NCL(Kufs 病)的不同之处在于发病较晚且视力得以保留。A 型(Kufs A)表现为进行性肌阵挛癫痫(PME),而 B 型(Kufs B)则表现为运动受累性痴呆。这两种亚型都有不同的致病基因:方法:我们描述了经基因证实的新型致病性 CLN5 亚型的 3 对兄妹,他们表现为发育倒退、药物难治性肌阵挛性癫痫和痴呆(Kufs A):结果:我们发现了3对成人发病的NCL兄弟姐妹,他们的表型为Kufs A(而非Kufs B),这在临床上很少见:结论:关于 NCL 基因型-表型变异的报道越来越多。我们描述了一个家族中的三名 CLN5 亚型患者,他们都有突出的药物难治性肌阵挛性癫痫,这种情况极为罕见。
{"title":"Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family","authors":"Shiny Joy ,&nbsp;Ayush Agarwal ,&nbsp;Jupita Handique ,&nbsp;Mahino Fatima ,&nbsp;Divyani Garg ,&nbsp;Pooja Sharma ,&nbsp;Roopa Rajan ,&nbsp;Ajay Garg ,&nbsp;Mohd Faruq ,&nbsp;Achal K. Srivastava","doi":"10.1016/j.seizure.2024.11.017","DOIUrl":"10.1016/j.seizure.2024.11.017","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement. Both subtypes have distinct causative genes.</div></div><div><h3>Methods</h3><div>We have described 3 siblings with genetically confirmed novel pathogenic <em>CLN5</em> subtype who presented with developmental regression, drug-refractory myoclonic epilepsy, and dementia (Kufs A).</div></div><div><h3>Results</h3><div>We have presented 3 siblings with adult onset NCL with Kufs A (not Kufs B) phenotype, which has been rarely documented.</div></div><div><h3>Conclusion</h3><div>Genotypic-phenotypic variations are increasingly being reported for NCL. We have described three patients from a family with <em>CLN5</em> subtype who had prominent drug refractory myoclonic epilepsy, which is extremely rare.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"124 ","pages":"Pages 66-70"},"PeriodicalIF":2.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142819763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome 小学入学后ACTH治疗对婴儿癫痫痉挛综合征患者的影响。
IF 2.7 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.seizure.2024.12.002
Ryuki Matsuura , Shin-ichiro Hamano , Yuko Hirata , Azusa Oba , Haruhito Horita , Hirokazu Takeuchi , Reiko Koichihara , Kenjiro Kikuchi , Akira Oka

Purpose

Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.

Methods

We retrospectively evaluated the elementary school enrollment of patients with IESS who were administered ACTH at the Saitama Children's Medical Center between January 1993 and August 2024. We evaluated elementary school enrollment, seizure outcomes, motor development, and intellectual development at the time of school enrollment in the ACTH responder and nonresponder groups. Response was defined as complete remission of epileptic spasms and no other seizure occurrence from ACTH administration initiation until the age of 6 years.

Results

In total, 116 patients (62 male) were included in this study. The median age at IESS onset was 5 (range, 0–24) months. Twenty-seven patients (23.3 %) maintained complete remission of epileptic spasms from ACTH initiation to elementary school enrollment. The responder group had a significantly higher rate of regular class attendance (48.1 %) and exhibited normal intelligence or developmental quotient (33.3 %) compared with the nonresponder group (p < 0.01 and p < 0.01, respectively). Patients with an unknown etiology were more likely to attend regular classes (37.5 %). The median age of the last hospital visit was 13 (6.0–24.4) years. Lennox-Gastaut syndrome was diagnosed in 5.2 % (6/116) of patients at the last visit.

Conclusion

Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.
目的:婴儿癫痫性痉挛综合征(IESS)通常具有严重的神经发育预后。然而,很少有研究对小学入学率方面进行调查。本研究评估IESS患者接受促肾上腺皮质激素(ACTH)治疗后的小学入学情况。方法:我们回顾性评估1993年1月至2024年8月在埼玉儿童医疗中心接受ACTH治疗的IESS患者的小学入学情况。我们评估了ACTH有反应组和无反应组入学时的小学入学率、癫痫发作结果、运动发育和智力发展。反应被定义为癫痫痉挛完全缓解,从ACTH给药开始到6岁没有其他癫痫发作。结果:共纳入116例患者,其中男性62例。ess发病的中位年龄为5个月(范围0-24个月)。27例患者(23.3%)从ACTH开始到小学入学保持癫痫痉挛完全缓解。与无应答组相比,应答组的正常出勤率(48.1%)和智力或发展商(33.3%)均显著高于无应答组(p < 0.01和p < 0.01)。病因不明的患者更有可能参加常规课程(37.5%)。最后一次就诊的中位年龄为13岁(6.0 ~ 24.4岁)。最后一次访视时,5.2%(6/116)的患者被诊断为lenox - gastaut综合征。结论:我们的研究结果可以帮助儿科医生预测接受ACTH治疗的IESS患者的小学入学率和神经发育结局。
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Seizure-European Journal of Epilepsy
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