首页 > 最新文献

Epilepsy & Behavior最新文献

英文 中文
Restrictions due to epilepsy in newly diagnosed patients: Which areas of daily life are affected and how effective is an inpatient rehabilitation program? 新诊断癫痫患者的限制:日常生活的哪些方面受到影响?住院康复计划的效果如何?
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-28 DOI: 10.1016/j.yebeh.2025.110871
Anne Hagemann , Denise Lahr , Pascal Speicher , Heiko Hausfeld , Ingrid Coban , Birgitt Müffelmann , Christian G. Bien , Theodor W. May , Ulrich Specht

Objective

To examine restrictions in daily life perceived by people with newly diagnosed epilepsy (NDE) before participation in a specialized inpatient rehabilitation program and to evaluate the effects of rehabilitation on these perceived restrictions.

Methods

We conducted an explorative study using data from two prospective studies evaluating the efficacy of the rehabilitation program. We analyzed the pre-rehabilitation assessment of the scale “Restrictions in daily life due to epilepsy” of the Performance, Socio-demographic Aspects, Subjective Evaluation (PESOS) questionnaire for patients with NDE (anti-seizure medication treatment for ≤ 1 year) and compared it with those of patients with chronic epilepsy (CE, treatment for > 5 years). Rehabilitation effects were evaluated by comparing the 1-year-follow-up assessments of patients with NDE to those of a control group with a similar epilepsy duration, but without rehabilitation (CGNDE).

Results

Patients with NDE reported the strongest perceived restrictions for “Driving a car/motorcycle” (86.2 % very strongly, vs. 60.2 % in CE, p < 0.001) and “Employment, vocational training/school” (73.1 % vs. 53.1 % in CE, p = 0.067). Some characteristics of patients with NDE (e.g., sex, psychiatric comorbidity) correlated with perceived restrictions in most areas of life, while others showed more specific associations (e.g., financial restrictions with school-leaving qualification). One year after rehabilitation, patients with NDE reported significantly lower perceived restrictions across nearly all areas of life compared to the CGNDE (p < 0.05).

Conclusion

The strongest perceived restrictions occurred in areas of life where even a first seizure imposes objective limitations (driving and employment). One year after rehabilitation, our data indicated a lasting effect of the rehabilitation program.
目的了解新诊断癫痫患者在参加专科住院康复治疗前对日常生活的限制,并评价康复治疗对这些限制的影响。方法采用两项前瞻性研究的数据进行探索性研究,评估康复方案的疗效。我们分析了NDE患者(抗癫痫药物治疗≤1年)的表现、社会人口学方面、主观评价(PESOS)问卷中“癫痫对日常生活的限制”量表的康复前评估,并将其与慢性癫痫患者(CE,治疗≤5年)进行比较。通过比较NDE患者与癫痫持续时间相似但未康复的对照组(CGNDE)的1年随访评估来评估康复效果。结果NDE患者对“驾驶汽车/摩托车”(86.2%非常强烈,CE为60.2%,p < 0.001)和“就业、职业培训/学校”(73.1%对CE为53.1%,p = 0.067)的感知限制最强。濒死体验患者的某些特征(例如,性别、精神共病)与生活中大多数领域的感知限制相关,而其他特征则表现出更具体的关联(例如,财务限制与离校资格)。康复一年后,与CGNDE患者相比,NDE患者报告的几乎所有生活领域的感知限制显著降低(p < 0.05)。最强的感知限制发生在即使是第一次癫痫发作也会造成客观限制的生活领域(驾驶和就业)。康复一年后,我们的数据显示了康复计划的持久效果。
{"title":"Restrictions due to epilepsy in newly diagnosed patients: Which areas of daily life are affected and how effective is an inpatient rehabilitation program?","authors":"Anne Hagemann ,&nbsp;Denise Lahr ,&nbsp;Pascal Speicher ,&nbsp;Heiko Hausfeld ,&nbsp;Ingrid Coban ,&nbsp;Birgitt Müffelmann ,&nbsp;Christian G. Bien ,&nbsp;Theodor W. May ,&nbsp;Ulrich Specht","doi":"10.1016/j.yebeh.2025.110871","DOIUrl":"10.1016/j.yebeh.2025.110871","url":null,"abstract":"<div><h3>Objective</h3><div>To examine restrictions in daily life perceived by people with newly diagnosed epilepsy (NDE) before participation in a specialized inpatient rehabilitation program and to evaluate the effects of rehabilitation on these perceived restrictions.</div></div><div><h3>Methods</h3><div>We conducted an explorative study using data from two prospective studies evaluating the efficacy of the rehabilitation program. We analyzed the pre-rehabilitation assessment of the scale “Restrictions in daily life due to epilepsy” of the Performance, Socio-demographic Aspects, Subjective Evaluation (PESOS) questionnaire for patients with NDE (anti-seizure medication treatment for ≤ 1 year) and compared it with those of patients with chronic epilepsy (CE, treatment for &gt; 5 years). Rehabilitation effects were evaluated by comparing the 1-year-follow-up assessments of patients with NDE to those of a control group with a similar epilepsy duration, but without rehabilitation (CG<sub>NDE</sub>).</div></div><div><h3>Results</h3><div>Patients with NDE reported the strongest perceived restrictions for “Driving a car/motorcycle” (86.2 % <em>very strongly</em>, vs. 60.2 % in CE, <em>p</em> &lt; 0.001) and “Employment, vocational training/school” (73.1 % vs. 53.1 % in CE, <em>p</em> = 0.067). Some characteristics of patients with NDE (e.g., sex, psychiatric comorbidity) correlated with perceived restrictions in most areas of life, while others showed more specific associations (e.g., financial restrictions with school-leaving qualification). One year after rehabilitation, patients with NDE reported significantly lower perceived restrictions across nearly all areas of life compared to the CG<sub>NDE</sub> (<em>p</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>The strongest perceived restrictions occurred in areas of life where even a first seizure imposes objective limitations (driving and employment). One year after rehabilitation, our data indicated a lasting effect of the rehabilitation program.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110871"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073904","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
Increasing capacity for epilepsy self‐management via a hub and spoke implementation model: Clinician perspectives from epilepsy centers in the United States 通过中心和辐条实施模式提高癫痫自我管理能力:来自美国癫痫中心的临床医生观点。
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-06 DOI: 10.1016/j.yebeh.2025.110865
Elaine T. Kiriakopoulos , Laura Bernstein , Trina Dawson , Lisa Feeley , Barbara C. Jobst , Sarah J. Kaden , Sharon O’Connor

Rationale

HOme-Based Self-management and COgnitive Training CHanges Lives (HOBSCOTCH) is a novel telehealth self-management program aimed at improving cognitive function and quality of life for people with epilepsy. Using a Hub and Spoke model, the HOBSCOTCH Institute at Dartmouth Health partnered with epilepsy center clinics across the U.S. in the HOBSCOTCH Institute Translational Network (HITN) to examine facilitators and barriers to epilepsy self-management program implementation.

Methods

Key informant interviews were conducted with 16 clinician champions from geographically diverse epilepsy centers using a semi-structured guide to explore clinic-level and patient-level factors influencing HOBSCOTCH implementation. Transcripts were analyzed using deductive coding to identify barriers, facilitators, and contextual dynamics shaping program integration.

Results

Findings suggest that the program design, relying on both patient referral to the centralized HOBSCOTCH Institute Hub and onsite Spoke delivery, is well supported by providers. Implementation barriers identified as requiring consideration included technology challenges, language barriers, staffing capacity for program delivery onsite, and readiness of quality improvement systems.

Conclusions

There is increasing recognition of the need to integrate evidence-based self-management into epilepsy clinical care streams. Clinician education and real-world implementation strategies will need to address contextual challenges for broad-based implementation and increased patient access to self-management supports. Access pathways, intervention delivery models, interdisciplinary collaboration, and tailored support will be required to scale epilepsy self-management programs effectively.
原理:基于家庭的自我管理和认知训练改变生活(HOBSCOTCH)是一种新颖的远程医疗自我管理计划,旨在改善癫痫患者的认知功能和生活质量。使用Hub and Spoke模型,达特茅斯卫生学院的HOBSCOTCH研究所与美国各地的癫痫中心诊所合作,在HOBSCOTCH研究所转化网络(HITN)中检查癫痫自我管理项目实施的促进因素和障碍。方法:采用半结构化指南对来自不同地区癫痫中心的16名临床冠军进行关键信息提供者访谈,探讨影响HOBSCOTCH实施的临床层面和患者层面因素。使用演绎编码来分析转录本,以确定形成程序集成的障碍、促进因素和上下文动态。结果:研究结果表明,依靠患者转诊到集中的HOBSCOTCH研究所中心和现场Spoke交付的方案设计得到了提供者的良好支持。需要考虑的实现障碍包括技术挑战、语言障碍、现场项目交付的人员配备能力,以及质量改进系统的准备情况。结论:越来越多的人认识到需要将循证自我管理纳入癫痫临床护理流程。临床医生教育和现实世界的实施战略将需要解决广泛实施的背景挑战,并增加患者获得自我管理支持的机会。为了有效地扩大癫痫自我管理规划的规模,需要获取途径、干预提供模式、跨学科合作和量身定制的支持。
{"title":"Increasing capacity for epilepsy self‐management via a hub and spoke implementation model: Clinician perspectives from epilepsy centers in the United States","authors":"Elaine T. Kiriakopoulos ,&nbsp;Laura Bernstein ,&nbsp;Trina Dawson ,&nbsp;Lisa Feeley ,&nbsp;Barbara C. Jobst ,&nbsp;Sarah J. Kaden ,&nbsp;Sharon O’Connor","doi":"10.1016/j.yebeh.2025.110865","DOIUrl":"10.1016/j.yebeh.2025.110865","url":null,"abstract":"<div><h3>Rationale</h3><div>HOme-Based Self-management and COgnitive Training CHanges Lives (HOBSCOTCH) is a novel telehealth self-management program aimed at improving cognitive function and quality of life for people with epilepsy. Using a Hub and Spoke model, the HOBSCOTCH Institute at Dartmouth Health partnered with epilepsy center clinics across the U.S. in the HOBSCOTCH Institute Translational Network (HITN) to examine facilitators and barriers to epilepsy self-management program implementation.</div></div><div><h3>Methods</h3><div>Key informant interviews were conducted with 16 clinician champions from geographically diverse epilepsy centers using a semi-structured guide to explore clinic-level and patient-level factors influencing HOBSCOTCH implementation. Transcripts were analyzed using deductive coding to identify barriers, facilitators, and contextual dynamics shaping program integration.</div></div><div><h3>Results</h3><div>Findings suggest that the program design, relying on both patient referral to the centralized HOBSCOTCH Institute Hub and onsite Spoke delivery, is well supported by providers. Implementation barriers identified as requiring consideration included technology challenges, language barriers, staffing capacity for program delivery onsite, and readiness of quality improvement systems.</div></div><div><h3>Conclusions</h3><div>There is increasing recognition of the need to integrate evidence-based self-management into epilepsy clinical care streams. Clinician education and real-world implementation strategies will need to address contextual challenges for broad-based implementation and increased patient access to self-management supports. Access pathways, intervention delivery models, interdisciplinary collaboration, and tailored support will be required to scale epilepsy self-management programs effectively.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110865"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917361","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
Intellectual function and psychiatric comorbidities in patients with epilepsy with eyelid myoclonia 癫痫合并眼睑肌阵挛患者的智力功能和精神并发症
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-31 DOI: 10.1016/j.yebeh.2026.110918
Hannah Padilla , Eva C. Alden , Isha Snehal , Jeffrey W. Britton , Lily C. Wong-Kisiel , Elaine C. Wirrell , Kelsey M. Smith

Background

Epilepsy with Eyelid Myoclonia (EEM) is a rare childhood-onset epilepsy syndrome. There is limited data about cognitive function and psychiatric comorbidities in patients with EEM.

Design/Methods

A database of 134 patients with EEM was reviewed for patients who underwent neuropsychological testing. Psychiatric comorbidities and psychometric test scores were identified. Group comparison was performed between those who underwent neuropsychological testing and those who did not. In addition, we evaluated whether clinical factors were associated with IQ score.

Results

Fourteen patients underwent neuropsychological testing (12 females, 85.7%), with a median age at testing of 17 (range 7–22). Median IQ was 79 (range 56–110); 7 patients had below average IQ. Other median results of neuropsychometric measures were: Verbal Comprehension Index 85.5 (range 66–116), Perceptual Reasoning Index or Visual Spatial Index 81.5 (range 67–100), Working Memory Index 77 (range 54–100), Processing Speed Index 84 (range 53–94), and Reading Standardized Scores 84 (range 64–126). Common psychiatric comorbidities were anxiety (n = 10), depression (n = 7), ADHD (n = 6), and autism (n = 2). Those who underwent neuropsychological testing had a younger age of epilepsy onset, longer follow-up at our institution, and were more likely to have myoclonic seizures or psychosis than those who did not undergo neuropsychological testing. No clinical factors were statistically associated with IQ score.

Conclusions

EEM is associated with a wide range of cognitive abilities, with half of our patients having a below average IQ. Psychiatric comorbidities were common. Identifying cognitive impairment and psychiatric comorbidities is crucial to implement appropriate management strategies.
背景:癫痫伴眼睑肌阵挛(EEM)是一种罕见的儿童癫痫综合征。关于EEM患者的认知功能和精神合并症的数据有限。设计/方法对接受神经心理测试的134例EEM患者的数据库进行分析。确定精神合并症和心理测试分数。在接受神经心理测试的人和没有接受神经心理测试的人之间进行组间比较。此外,我们评估了临床因素是否与智商得分有关。结果14例患者接受了神经心理测试,其中女性12例,占85.7%,中位年龄17岁(范围7-22岁)。智商中位数为79(范围56-110);7名患者智商低于平均水平。其他神经心理测量的中位数结果为:言语理解指数85.5(范围66-116),知觉推理指数或视觉空间指数81.5(范围67-100),工作记忆指数77(范围54-100),处理速度指数84(范围53-94),阅读标准化分数84(范围64-126)。常见的精神合并症有焦虑(n = 10)、抑郁(n = 7)、多动症(n = 6)和自闭症(n = 2)。与未接受神经心理测试的患者相比,接受神经心理测试的患者癫痫发作年龄更小,随访时间更长,并且更容易发生肌阵挛性发作或精神病。没有临床因素与智商得分有统计学关联。结论:似乎与广泛的认知能力有关,我们有一半的患者智商低于平均水平。精神合并症很常见。识别认知障碍和精神合并症对于实施适当的管理策略至关重要。
{"title":"Intellectual function and psychiatric comorbidities in patients with epilepsy with eyelid myoclonia","authors":"Hannah Padilla ,&nbsp;Eva C. Alden ,&nbsp;Isha Snehal ,&nbsp;Jeffrey W. Britton ,&nbsp;Lily C. Wong-Kisiel ,&nbsp;Elaine C. Wirrell ,&nbsp;Kelsey M. Smith","doi":"10.1016/j.yebeh.2026.110918","DOIUrl":"10.1016/j.yebeh.2026.110918","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy with Eyelid Myoclonia (EEM) is a rare childhood-onset epilepsy syndrome. There is limited data about cognitive function and psychiatric comorbidities in patients with EEM.</div></div><div><h3>Design/Methods</h3><div>A database of 134 patients with EEM was reviewed for patients who underwent neuropsychological testing. Psychiatric comorbidities and psychometric test scores were identified. Group comparison was performed between those who underwent neuropsychological testing and those who did not. In addition, we evaluated whether clinical factors were associated with IQ score.</div></div><div><h3>Results</h3><div>Fourteen patients underwent neuropsychological testing (12 females, 85.7%), with a median age at testing of 17 (range 7–22). Median IQ was 79 (range 56–110); 7 patients had below average IQ. Other median results of neuropsychometric measures were: Verbal Comprehension Index 85.5 (range 66–116), Perceptual Reasoning Index or Visual Spatial Index 81.5 (range 67–100), Working Memory Index 77 (range 54–100), Processing Speed Index 84 (range 53–94), and Reading Standardized Scores 84 (range 64–126). Common psychiatric comorbidities were anxiety (n = 10), depression (n = 7), ADHD (n = 6), and autism (n = 2). Those who underwent neuropsychological testing had a younger age of epilepsy onset, longer follow-up at our institution, and were more likely to have myoclonic seizures or psychosis than those who did not undergo neuropsychological testing. No clinical factors were statistically associated with IQ score.</div></div><div><h3>Conclusions</h3><div>EEM is associated with a wide range of cognitive abilities, with half of our patients having a below average IQ. Psychiatric comorbidities were common. Identifying cognitive impairment and psychiatric comorbidities is crucial to implement appropriate management strategies.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110918"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146073929","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
Short and long term seizure outcomes in functional/dissociative seizures: a single center cohort study with 1–10 years of follow up from Türkiye 功能性/解离性癫痫发作的短期和长期发作结局:一项单中心队列研究,随访时间为1-10年
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-17 DOI: 10.1016/j.yebeh.2025.110872
Gizem Güllü , Aylin Bican Demir , İbrahim Hakkı Bora

Objective

Functional/Dissociative Seizures (FDS) are episodic events resembling epileptic seizures but stemming from psychological origins. They often result in misdiagnosis and suboptimal treatment, significantly impairing patients’ quality of life. This study aimed to investigate the clinical and demographic factors associated with short and long term prognosis in FDS.

Methods

The primary variables of interest were seizure outcomes at two horizons: short term (status at 6 months after discharge) and long term (status during the last 12 months within 1–10 years post-diagnosis). We defined seizure outcomes as remission vs persistence and change in seizure frequency from baseline, ascertained from VEM records and standardized clinic/telephone follow up.

Results

The cohort included 147 patients; short term seizure outcomes were available for 144 and long term seizure outcomes for 138 (median follow-up 6 years; range 1–10). At 6 months, 6.9 % were seizure free; at long term follow up, 37.7 % were seizure free. In short term analysis, only early diagnosis (≤1 year) remained significantly associated with remission after Holm adjustment (p = 0.039). Logistic regression showed that early diagnosis (p = 0.018) and higher age at FDS onset (p = 0.026) independently predicted favorable short term seizure outcomes, whereas the presence of family related stressors was associated with poorer prognosis (p = 0.006). In the long term analysis, family related stressors remained significantly associated with poorer seizure outcomes after Holm adjustment (p = 0.007). Logistic regression further showed that longer FDS episodes (≥5 min) were associated with a more favorable long term seizure outcome (p = 0.027), whereas family related stressors continued to independently predict poorer prognosis (p = 0.002).

Conclusions

FDS outcomes are shaped by identifiable psychosocial and clinical factors. Early diagnosis and older age at onset predict favorable short term remission, whereas family related stressors consistently predict poorer outcomes across both time horizons. These findings highlight the prognostic value of early detection and the need to address sustained family related stress in treatment planning.
目的功能性/解离性癫痫发作(FDS)是一种类似癫痫发作的发作性事件,但源于心理根源。它们经常导致误诊和不理想的治疗,严重损害患者的生活质量。本研究旨在探讨影响FDS短期和长期预后的临床和人口学因素。方法研究的主要变量是两个视域的癫痫发作情况:短期(出院后6个月)和长期(诊断后1-10年内最近12个月)。我们将癫痫发作结果定义为缓解vs持续以及癫痫发作频率从基线开始的变化,这是通过VEM记录和标准化的诊所/电话随访确定的。结果纳入147例患者;短期发作结果为144例,长期发作结果为138例(中位随访6年,范围1-10年)。6个月时,6.9%无癫痫发作;经长期随访,37.7%患者无癫痫发作。短期分析显示,只有早期诊断(≤1年)与Holm调整后的缓解有显著相关性(p = 0.039)。Logistic回归显示,早期诊断(p = 0.018)和较高的FDS发病年龄(p = 0.026)独立预测了良好的短期癫痫发作结果,而家庭相关应激源的存在与较差的预后相关(p = 0.006)。在长期分析中,与家庭相关的压力源与Holm调整后较差的癫痫发作结果仍然显著相关(p = 0.007)。Logistic回归进一步显示,更长的FDS发作(≥5分钟)与更有利的长期癫痫发作结果相关(p = 0.027),而家庭相关压力源继续独立预测较差的预后(p = 0.002)。结论sfds的预后受可识别的社会心理和临床因素的影响。早期诊断和老年发病预示着有利的短期缓解,而家庭相关的压力源在两个时间范围内始终预示着较差的结果。这些发现强调了早期发现的预后价值,以及在治疗计划中解决持续的家庭相关压力的必要性。
{"title":"Short and long term seizure outcomes in functional/dissociative seizures: a single center cohort study with 1–10 years of follow up from Türkiye","authors":"Gizem Güllü ,&nbsp;Aylin Bican Demir ,&nbsp;İbrahim Hakkı Bora","doi":"10.1016/j.yebeh.2025.110872","DOIUrl":"10.1016/j.yebeh.2025.110872","url":null,"abstract":"<div><h3>Objective</h3><div>Functional/Dissociative Seizures (FDS) are episodic events resembling epileptic seizures but stemming from psychological origins. They often result in misdiagnosis and suboptimal treatment, significantly impairing patients’ quality of life. This study aimed to investigate the clinical and demographic factors associated with short and long term prognosis in FDS.</div></div><div><h3>Methods</h3><div>The primary variables of interest were seizure outcomes at two horizons: short term (status at 6 months after discharge) and long term (status during the last 12 months within 1–10 years post-diagnosis). We defined seizure outcomes as remission vs persistence and change in seizure frequency from baseline, ascertained from VEM records and standardized clinic/telephone follow up.</div></div><div><h3>Results</h3><div>The cohort included 147 patients; short term seizure outcomes were available for 144 and long term seizure outcomes for 138 (median follow-up 6 years; range 1–10). At 6 months, 6.9 % were seizure free; at long term follow up, 37.7 % were seizure free. In short term analysis, only early diagnosis (≤1 year) remained significantly associated with remission after Holm adjustment (<em>p</em> = 0.039). Logistic regression showed that early diagnosis (<em>p</em> = 0.018) and higher age at FDS onset (<em>p</em> = 0.026) independently predicted favorable short term seizure outcomes, whereas the presence of family related stressors was associated with poorer prognosis (<em>p</em> = 0.006). In the long term analysis, family related stressors remained significantly associated with poorer seizure outcomes after Holm adjustment (<em>p</em> = 0.007). Logistic regression further showed that longer FDS episodes (≥5 min) were associated with a more favorable long term seizure outcome (<em>p</em> = 0.027), whereas family related stressors continued to independently predict poorer prognosis (<em>p</em> = 0.002).</div></div><div><h3>Conclusions</h3><div>FDS outcomes are shaped by identifiable psychosocial and clinical factors. Early diagnosis and older age at onset predict favorable short term remission, whereas family related stressors consistently predict poorer outcomes across both time horizons. These findings highlight the prognostic value of early detection and the need to address sustained family related stress in treatment planning.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110872"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145974350","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
Needs of pregnant women with epilepsy–a mixed methods study 癫痫孕妇的需求——一项混合方法研究
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-16 DOI: 10.1016/j.yebeh.2025.110867
Rajeswari Aghoram , Pradeep P. Nair , Subitha Lakshminarayanan , Anish Keepanasseril , Zunatha Banu , Rajalakshmy Ramasamy , Priyadarshini Rajendran

Introduction

Epilepsy is the most common chronic neurological condition complicating pregnancy. This study aims to understand and explore the needs of pregnant women with epilepsy in India using a concurrent mixed methods approach (Quan-Qual).

Methods

Study was conducted in a comprehensive epilepsy care center of a tertiary care hospital in South of India. After obtaining ethics approval consecutive women with active epilepsy who were currently pregnant were approached and followed till 6 weeks post-partum. Apart from demographic and clinical details, quality of life, self-efficacy, perceived stress, anxiety and social support were estimated. Focus group discussions of 4–6 members facilitated by a trained member of the research team for various stake holders (currently pregnant women, care givers, health care providers, and recently delivered women with good outcomes, and with bad outcomes) were conducted till data saturation. These were recorded, transcribed and coded using both inductive and deductive methods. Quantitative data was processed using STATA ver14.2, Stata Corp, USA and qualitative data using NVIVO, USA. Integration was carried out by merging and triangulating the results.

Results

We recruited 40 pregnant women with epilepsy and the qualitative strand included 28 different stakeholders. Three major themes supported by quantitative and qualitative data emerged a. Epilepsy associated needs (antiseizure medication associated and fragmentation of care) b. Pregnancy associated needs (planned pregnancy) c. Pregnancy and epilepsy associated (anxiety and self-care). Many of these needs were unmet.

Conclusion

Pregnant women with epilepsy in have many unmet needs.
癫痫是妊娠期最常见的慢性神经系统疾病。本研究旨在通过并行混合方法(Quan-Qual)了解和探讨印度癫痫孕妇的需求。方法在印度南部某三级医院癫痫综合护理中心进行研究。在获得伦理批准后,与连续妊娠的活动性癫痫妇女进行接触并随访至产后6周。除了人口统计和临床细节外,还评估了生活质量、自我效能、感知压力、焦虑和社会支持。在研究小组一名训练有素的成员的协助下,对各利益攸关方(目前怀孕的妇女、护理人员、卫生保健提供者和最近分娩的有好结果和坏结果的妇女)进行了4-6人的焦点小组讨论,直到数据饱和。这些记录,转录和编码使用归纳和演绎的方法。定量数据采用STATA ver14.2, STATA Corp, USA,定性数据采用NVIVO, USA。通过合并和三角测量结果进行整合。结果我们招募了40名癫痫孕妇,定性链包括28个不同的利益相关者。定量和定性数据支持的三个主要主题出现了:a.癫痫相关需求(抗癫痫药物相关和护理碎片化)b.妊娠相关需求(计划妊娠)c.妊娠和癫痫相关(焦虑和自我保健)。这些需求中有许多没有得到满足。结论妊娠期癫痫患者有许多未满足的需求。
{"title":"Needs of pregnant women with epilepsy–a mixed methods study","authors":"Rajeswari Aghoram ,&nbsp;Pradeep P. Nair ,&nbsp;Subitha Lakshminarayanan ,&nbsp;Anish Keepanasseril ,&nbsp;Zunatha Banu ,&nbsp;Rajalakshmy Ramasamy ,&nbsp;Priyadarshini Rajendran","doi":"10.1016/j.yebeh.2025.110867","DOIUrl":"10.1016/j.yebeh.2025.110867","url":null,"abstract":"<div><h3>Introduction</h3><div>Epilepsy is the most common chronic neurological condition complicating pregnancy. This study aims to understand and explore the needs of pregnant women with epilepsy in India using a concurrent mixed methods approach (Quan-Qual).</div></div><div><h3>Methods</h3><div>Study was conducted in a comprehensive epilepsy care center of a tertiary care hospital in South of India. After obtaining ethics approval consecutive women with active epilepsy who were currently pregnant were approached and followed till 6 weeks post-partum. Apart from demographic and clinical details, quality of life, self-efficacy, perceived stress, anxiety and social support were estimated. Focus group discussions of 4–6 members facilitated by a trained member of the research team for various stake holders (currently pregnant women, care givers, health care providers, and recently delivered women with good outcomes, and with bad outcomes) were conducted till data saturation. These were recorded, transcribed and coded using both inductive and deductive methods. Quantitative data was processed using STATA ver14.2, Stata Corp, USA and qualitative data using NVIVO, USA. Integration was carried out by merging and triangulating the results.</div></div><div><h3>Results</h3><div>We recruited 40 pregnant women with epilepsy and the qualitative strand included 28 different stakeholders. Three major themes supported by quantitative and qualitative data emerged a. Epilepsy associated needs (antiseizure medication associated and fragmentation of care) b. Pregnancy associated needs (planned pregnancy) c. Pregnancy and epilepsy associated (anxiety and self-care). Many of these needs were unmet.</div></div><div><h3>Conclusion</h3><div>Pregnant women with epilepsy in have many unmet needs.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110867"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145974638","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
Numinous-like symptoms in epilepsy and/or insular tumors: A hospital cohort study 癫痫和/或岛岛肿瘤的幽灵样症状:一项医院队列研究
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-22 DOI: 10.1016/j.yebeh.2026.110901
Fredrik K Andersson , Bisrat Ezra , Kenney Roy Roodakker , Shala Berntsson , Maria Zetterling , Helena Gauffin , A-M Landtblom

Objective

Ecstatic seizures (EcS) have captured scientific interest due to their potential origin in anterior insular networks, emphasizing the insula’s role in self-processing. Their frequency in epilepsy or insular pathology has not been systematically studied. Present study aimed to examine the frequency and clinical characteristics of EcS in epilepsy patients, and the potential occurrence of ecstatic symptoms in insula tumor patients.

Method

Preformatted questionnaires on symptom reporting were sent to 200 epilepsy patients and 40 with resected insular tumors. Patients reporting EcS-related symptoms underwent in-person interviews. Hospital records, including EEG and imaging, were analyzed.
Seizure-related experiences with supernatural, religious, spiritual, mystical, or ecstatic features were referred to as “numinous-like symptoms” throughout the article.

Results

Interestingly, a variety of rare, numinous-like ictal experiences were found, all of which are discussed in this study. In the epilepsy cohort, 83 patients responded, five (6.0 %) reported symptoms that qualified them for interview and final analysis. In the tumor cohort, 23 patients responded, two (8.7 %) reported relevant symptoms, both with pre-existing epilepsy. During the interviews, we identified EcS (n = 1), ictal out-of-body experiences (OBE) (n = 2), and ictal sensed presence (SenP) (n = 5); one patient experienced both SenP and OBE. Three SenP patients had seizure origin in the right hemisphere: two had resected tumors in the temporo-insular region and one had mesial temporal sclerosis. The EcS patient had aphasia as an early seizure symptom and left-sided temporal interictal epileptiform activity. The remaining patients had less distinct investigational results.

Conclusion

Our findings indicate that seizure-related numinous-like experiences are not uncommon and should be actively assessed, given the difficulty and reluctance of patients to speak about them, and their relevance for evaluating seizure freedom and differential diagnoses. Neuroscientifically, these phenomena offer insight into consciousness: EcS and OBE occupy distinct nodes in self-processing networks, whereas SenP requires further cognitive, psychological, and phenomenological analysis to guide future neurobiological research.
目的狂喜发作(EcS)由于其可能起源于岛叶前网络而引起了科学界的兴趣,强调了岛叶在自我加工中的作用。它们在癫痫或岛岛病理中的频率尚未系统研究。本研究旨在探讨癫痫患者发生EcS的频率和临床特征,以及脑岛肿瘤患者可能出现的狂喜症状。方法对200例癫痫患者和40例切除岛叶肿瘤患者发放预格式化的症状报告问卷。报告ecs相关症状的患者进行了面对面访谈。分析了包括脑电图和影像在内的医院记录。与癫痫相关的超自然的、宗教的、精神的、神秘的或狂喜的经历在整篇文章中被称为“超自然的症状”。结果有趣的是,我们发现了各种罕见的、类似精神的精神体验,所有这些都在本研究中进行了讨论。在癫痫队列中,83例患者有反应,5例(6.0%)报告的症状符合访谈和最终分析的条件。在肿瘤队列中,23例患者有反应,2例(8.7%)报告了相关症状,均为既往癫痫。在访谈中,我们确定了EcS (n = 1),临界体外体验(n = 2)和临界感存在(SenP) (n = 5);一名患者同时经历了SenP和OBE。3例SenP患者癫痫起源于右半球:2例切除了颞岛区肿瘤,1例内侧颞叶硬化。EcS患者早期癫痫症状为失语,左侧颞叶间期癫痫样活动。其余患者的研究结果不太明显。结论我们的研究结果表明,癫痫相关的幽灵样经历并不罕见,应积极评估,考虑到患者谈论它们的困难和不情愿,以及它们与评估癫痫发作自由和鉴别诊断的相关性。从神经科学的角度来看,这些现象提供了对意识的洞察:EcS和OBE在自我处理网络中占据不同的节点,而SenP需要进一步的认知、心理和现象学分析来指导未来的神经生物学研究。
{"title":"Numinous-like symptoms in epilepsy and/or insular tumors: A hospital cohort study","authors":"Fredrik K Andersson ,&nbsp;Bisrat Ezra ,&nbsp;Kenney Roy Roodakker ,&nbsp;Shala Berntsson ,&nbsp;Maria Zetterling ,&nbsp;Helena Gauffin ,&nbsp;A-M Landtblom","doi":"10.1016/j.yebeh.2026.110901","DOIUrl":"10.1016/j.yebeh.2026.110901","url":null,"abstract":"<div><h3>Objective</h3><div>Ecstatic seizures (EcS) have captured scientific interest due to their potential origin in anterior insular networks, emphasizing the insula’s role in self-processing. Their frequency in epilepsy or insular pathology has not been systematically studied. Present study aimed to examine the frequency and clinical characteristics of EcS in epilepsy patients, and the potential occurrence of ecstatic symptoms in insula tumor patients.</div></div><div><h3>Method</h3><div>Preformatted questionnaires on symptom reporting were sent to 200 epilepsy patients and 40 with resected insular tumors. Patients reporting EcS-related symptoms underwent in-person interviews. Hospital records, including EEG and imaging, were analyzed.</div><div>Seizure-related experiences with supernatural, religious, spiritual, mystical, or ecstatic features were referred to as “numinous-like symptoms” throughout the article.</div></div><div><h3>Results</h3><div>Interestingly, a variety of rare, numinous-like ictal experiences were found, all of which are discussed in this study. In the epilepsy cohort, 83 patients responded, five (6.0 %) reported symptoms that qualified them for interview and final analysis. In the tumor cohort, 23 patients responded, two (8.7 %) reported relevant symptoms, both with pre-existing epilepsy. During the interviews, we identified EcS (n = 1), ictal out-of-body experiences (OBE) (n = 2), and ictal sensed presence (SenP) (n = 5); one patient experienced both SenP and OBE. Three SenP patients had seizure origin in the right hemisphere: two had resected tumors in the temporo-insular region and one had mesial temporal sclerosis. The EcS patient had aphasia as an early seizure symptom and left-sided temporal interictal epileptiform activity. The remaining patients had less distinct investigational results.</div></div><div><h3>Conclusion</h3><div>Our findings indicate that seizure-related numinous-like experiences are not uncommon and should be actively assessed, given the difficulty and reluctance of patients to speak about them, and their relevance for evaluating seizure freedom and differential diagnoses. Neuroscientifically, these phenomena offer insight into consciousness: EcS and OBE occupy distinct nodes in self-processing networks, whereas SenP requires further cognitive, psychological, and phenomenological analysis to guide future neurobiological research.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110901"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146035043","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
Efficacy and tolerability of blue-tinted contact lenses in the treatment of Sunflower syndrome: A questionnaire-based study 蓝色隐形眼镜治疗向日葵综合征的疗效和耐受性:一项基于问卷的研究
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-31 DOI: 10.1016/j.yebeh.2026.110921
Kennedy R. Geenen , Samantha V. Yap , Lydia Tsega , Steven Cantrell , Patricia L. Bruno , Elizabeth A. Thiele

Aim

The goal of this study was to assess the efficacy and tolerability of the Cantrell Notch Filtering soft contact lens as a treatment for patients with Sunflower syndrome.

Methods

A questionnaire was distributed to patients with Sunflower syndrome that were being treated with the Cantrell Notch Filtering contact lenses. The survey was hosted on REDCap, and covered topics pertaining to the respondent’s history of Sunflower syndrome, including frequency of seizures, tolerability of the lenses, and the perceived benefit of the lenses with regard to reduction of handwaving episodes.

Results

Nineteen people participated in this study. Sixteen of the 19 respondents provided numerical data regarding the frequency of handwaving episodes with and without contact lenses. At the time of survey completion, the average length of time that patients reported wearing the contact lenses was 11.5 months (range: 1 week-2 years 6 months). There was an average 72.9% reduction in handwaving episodes with the use of the contact lenses. Many respondents were able to reduce the use of other non-pharmacological interventions, such as hats and sunglasses, while wearing the contact lenses. However, 10 respondents (52.6%) reported difficulty with tolerability of the contact lenses, including stinging, burning, and color distortion. Of note, these contact lenses filter light between 250 and 650 nm, compared to a Zeiss Z1 lens which filters light between 550 and 700 nm.

Conclusion

The Cantrell Notch Filtering contact lens for Sunflower syndrome may be a beneficial non-pharmacological treatment option for some patients with Sunflower syndrome, although many patients have difficulty with tolerability.
目的本研究的目的是评估Cantrell切口过滤软性接触镜治疗向日葵综合征的疗效和耐受性。方法对使用Cantrell切口过滤隐形眼镜治疗向日葵综合征的患者进行问卷调查。该调查由REDCap主持,涵盖了与受访者向日葵综合征病史相关的主题,包括癫痫发作频率,镜片耐受性,以及镜片对减少手部挥舞发作的感知益处。结果19人参加了本研究。在19名受访者中,有16名提供了关于戴和不戴隐形眼镜时挥手次数的数字数据。在调查完成时,患者报告佩戴隐形眼镜的平均时间为11.5个月(范围:1周-2年6个月)。佩戴隐形眼镜后,挥手的次数平均减少了72.9%。许多受访者能够在戴隐形眼镜的同时减少其他非药物干预措施的使用,如帽子和太阳镜。然而,10名受访者(52.6%)报告隐形眼镜耐受性困难,包括刺痛、灼烧和颜色变形。值得注意的是,这些隐形眼镜可以过滤250到650纳米的光线,而蔡司Z1镜片可以过滤550到700纳米的光线。结论Cantrell切口过滤隐形眼镜治疗向日葵综合征可能是一种有益的非药物治疗选择,尽管许多患者有耐受性困难。
{"title":"Efficacy and tolerability of blue-tinted contact lenses in the treatment of Sunflower syndrome: A questionnaire-based study","authors":"Kennedy R. Geenen ,&nbsp;Samantha V. Yap ,&nbsp;Lydia Tsega ,&nbsp;Steven Cantrell ,&nbsp;Patricia L. Bruno ,&nbsp;Elizabeth A. Thiele","doi":"10.1016/j.yebeh.2026.110921","DOIUrl":"10.1016/j.yebeh.2026.110921","url":null,"abstract":"<div><h3>Aim</h3><div>The goal of this study was to assess the efficacy and tolerability of the Cantrell Notch Filtering soft contact lens as a treatment for patients with Sunflower syndrome.</div></div><div><h3>Methods</h3><div>A questionnaire was distributed to patients with Sunflower syndrome that were being treated with the Cantrell Notch Filtering contact lenses. The survey was hosted on REDCap, and covered topics pertaining to the respondent’s history of Sunflower syndrome, including frequency of seizures, tolerability of the lenses, and the perceived benefit of the lenses with regard to reduction of handwaving episodes.</div></div><div><h3>Results</h3><div>Nineteen people participated in this study. Sixteen of the 19 respondents provided numerical data regarding the frequency of handwaving episodes with and without contact lenses. At the time of survey completion, the average length of time that patients reported wearing the contact lenses was 11.5 months (range: 1 week-2 years 6 months). There was an average 72.9% reduction in handwaving episodes with the use of the contact lenses. Many respondents were able to reduce the use of other non-pharmacological interventions, such as hats and sunglasses, while wearing the contact lenses. However, 10 respondents (52.6%) reported difficulty with tolerability of the contact lenses, including stinging, burning, and color distortion. Of note, these contact lenses filter light between 250 and 650 nm, compared to a Zeiss Z1 lens which filters light between 550 and 700 nm.</div></div><div><h3>Conclusion</h3><div>The Cantrell Notch Filtering contact lens for Sunflower syndrome may be a beneficial non-pharmacological treatment option for some patients with Sunflower syndrome, although many patients have difficulty with tolerability.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110921"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146074088","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
Clinical and neuroimaging features of PRRT2-related epilepsy in adult patients 成人prrt2相关性癫痫的临床及神经影像学特征
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-18 DOI: 10.1016/j.yebeh.2025.110868
Yi Yan , Yuling Yang , Yang Cai , Shaoping Zhong , Kaiyuan Shen , Xin Wang , Jing Ding

Objective

While proline-rich transmembrane protein 2 (PRRT2) variants have been reported in association with self-limited infantile epilepsy (SeLIE), their relevance to adult epilepsy remains largely uncharacterized. Therefore, we investigated the prevalence of PRRT2 variants in an adult epilepsy cohort to broaden their phenotypic spectrum.

Methods

In a cohort of adult patients with epilepsy who underwent whole-exome sequencing (WES), individuals harboring PRRT2 variants were identified and selected for further analysis. Amino acid conservation among species, combined with functional verification of mutant proteins, was performed to assess the pathogenicity of novel PRRT2 variants. Furthermore, electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) were conducted in patients carrying PRRT2 variants.

Results

Two novel missense variants (c.643C > A/ p.P215T and c.932G > A/ p.R311Q) were demonstrated to impair protein expression, indicating a likely haploinsufficiency mechanism. Nine cases were identified carrying PRRT2 variants, including the c.649dupC hotspot variant and two missense variants. The age of seizure onset was predominantly during infancy or adolescence, with epilepsy persisting or relapsing into adulthood. Drug-resistant epilepsy was observed in two cases, whereas others were primarily controlled through sodium channel blockers. Unlike previously reported normal interictal EEG findings in PRRT2-related disorders, epileptiform discharges were recorded in the majority of patients. fMRI revealed reduced thalamocortical connectivity, indicating disrupted brain network integration.

Conclusions

This study expands the genotypic and phenotypic spectrum of PRRT2-related disorders, links its variants to epileptiform discharges, and reveals impaired network integration in PRRT2-associated epilepsy.
目的:虽然富含脯氨酸的跨膜蛋白2 (PRRT2)变异已被报道与自限性婴儿癫痫(SeLIE)相关,但其与成人癫痫的相关性在很大程度上仍未明确。因此,我们研究了成人癫痫队列中PRRT2变异的患病率,以拓宽其表型谱。方法:在一组接受全外显子组测序(WES)的成年癫痫患者中,鉴定出携带PRRT2变异的个体并选择其进行进一步分析。物种间氨基酸保守,结合突变蛋白的功能验证,评估了新的PRRT2变异的致病性。此外,对携带PRRT2变异的患者进行脑电图(EEG)和功能磁共振成像(fMRI)检查。结果:两种新的错义变异(c.643C > A/ p.P215T和c.932G > A/ p.R311Q)被证实损害蛋白表达,表明可能的单倍功能不全机制。9例患者携带PRRT2变异,包括c.649dupC热点变异和2个错义变异。癫痫发作的年龄主要是在婴儿期或青春期,癫痫持续或复发到成年期。在两例中观察到耐药性癫痫,而其他病例主要通过钠通道阻滞剂控制。与先前报道的prrt2相关疾病的正常间期脑电图结果不同,大多数患者记录了癫痫样放电。fMRI显示丘脑皮质连通性降低,表明大脑网络整合中断。结论:本研究扩展了prrt2相关疾病的基因型和表型谱,将其变异与癫痫样放电联系起来,并揭示了prrt2相关癫痫的网络整合受损。
{"title":"Clinical and neuroimaging features of PRRT2-related epilepsy in adult patients","authors":"Yi Yan ,&nbsp;Yuling Yang ,&nbsp;Yang Cai ,&nbsp;Shaoping Zhong ,&nbsp;Kaiyuan Shen ,&nbsp;Xin Wang ,&nbsp;Jing Ding","doi":"10.1016/j.yebeh.2025.110868","DOIUrl":"10.1016/j.yebeh.2025.110868","url":null,"abstract":"<div><h3>Objective</h3><div>While proline-rich transmembrane protein 2 (<em>PRRT2</em>) variants have been reported in association with self-limited infantile epilepsy (SeLIE), their relevance to adult epilepsy remains largely uncharacterized. Therefore, we investigated the prevalence of <em>PRRT2</em> variants in an adult epilepsy cohort to broaden their phenotypic spectrum.</div></div><div><h3>Methods</h3><div>In a cohort of adult patients with epilepsy who underwent whole-exome sequencing (WES), individuals harboring <em>PRRT2</em> variants were identified and selected for further analysis. Amino acid conservation among species, combined with functional verification of mutant proteins, was performed to assess the pathogenicity of novel <em>PRRT2</em> variants. Furthermore, electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) were conducted in patients carrying <em>PRRT2</em> variants.</div></div><div><h3>Results</h3><div>Two novel missense variants (c.643C &gt; A/ p.P215T and c.932G &gt; A/ p.R311Q) were demonstrated to impair protein expression, indicating a likely haploinsufficiency mechanism. Nine cases were identified carrying <em>PRRT2</em> variants, including the c.649dupC hotspot variant and two missense variants. The age of seizure onset was predominantly during infancy or adolescence, with epilepsy persisting or relapsing into adulthood. Drug-resistant epilepsy was observed in two cases, whereas others were primarily controlled through sodium channel blockers. Unlike previously reported normal interictal EEG findings in <em>PRRT2</em>-related disorders, epileptiform discharges were recorded in the majority of patients. fMRI revealed reduced thalamocortical connectivity, indicating disrupted brain network integration.</div></div><div><h3>Conclusions</h3><div>This study expands the genotypic and phenotypic spectrum of <em>PRRT2</em>-related disorders, links its variants to epileptiform discharges, and reveals impaired network integration in <em>PRRT2</em>-associated epilepsy.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110868"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003392","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
Effective connectivity of face and fear processing in juvenile myoclonic epilepsy 青少年肌阵挛性癫痫面孔和恐惧加工的有效连通性
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-06 DOI: 10.1016/j.yebeh.2025.110863
Christina Münchberger , Kristina Krause , Louise Linka , Sascha Strehlau , Anna Sophia Huber , Julia Freigang , Andreas Jansen , Katja Menzler , Susanne Knake , Kristin M. Rusch

Objective

Individuals with Juvenile Myoclonic Epilepsy (JME) exhibit impaired facial emotion perception, especially regarding fear. However, the underlying neural mechanisms remain to be fully understood. Particularly, the connectivity between emotion-related regions, such as the amygdala, and visual face-processing areas, specifically the Fusiform Face Area (FFA), appears to be relevant for typical facial fear processing. We therefore explored the effective connectivity within the FFA-amygdala network in JME.

Methods

Fourteen individuals diagnosed with JME and 14 healthy controls matched for age, sex, and alexithymia (i.e., emotional awareness) participated in an fMRI face-viewing experiment. Participants were presented with images of neutral and fearful faces, as well as houses. Using Dynamic Causal Modelling, we examined endogenous connectivity, modulation by task conditions, and the influence of experimental inputs within the bilateral FFA-amygdala network (n = 24), incorporating both intra- and interhemispheric connections.

Results

Compared to healthy controls, we found alterations mainly in the task-independent endogenous structure of the FFA-amygdala network in JME. The self-connection of the right amygdala was particularly enhanced, with the same tendency observed for the left amygdala and the right FFA. Furthermore, aberrations were indicated in the interhemispheric transfer between the amygdalae under the modulation of fear. Exploratory analyses revealed correlations of neural activity, and neural network parameters with both the onset and duration of epilepsy.

Conclusion

Overall, we found initial evidence of alterations in the FFA-amygdala network in JME. Particularly, the right amygdala showed a greater inhibitory self-connection, which suggests a generally reduced sensitivity to external input and might affect social and emotional processing. This emphasizes further exploring the network structure, its behavioural implications, and connectivity with other regions in larger samples.
目的:青少年肌阵挛性癫痫(JME)患者表现出面部情绪感知障碍,尤其是恐惧。然而,潜在的神经机制仍有待充分了解。特别是,情绪相关区域(如杏仁核)和视觉面部处理区域(特别是Fusiform Face Area, FFA)之间的连通性似乎与典型的面部恐惧处理有关。因此,我们探索了JME中ffa -杏仁核网络的有效连通性。方法14例JME患者和14例年龄、性别和述情障碍(即情绪意识)相匹配的健康对照者参加了fMRI面部观察实验。研究人员向参与者展示了中立和恐惧的面孔以及房屋的图像。利用动态因果模型,我们研究了内源性连通性、任务条件的调节以及双侧ffa -杏仁核网络(n = 24)中实验输入的影响,包括半球内和半球间的连接。结果与健康对照组相比,我们发现JME主要在任务无关的ffa -杏仁核网络内源性结构上发生了变化。右杏仁核的自我连接特别增强,左杏仁核和右FFA也有同样的趋势。此外,在恐惧的调节下,杏仁核之间的半球间转移也出现了畸变。探索性分析揭示了神经活动和神经网络参数与癫痫发作和持续时间的相关性。总的来说,我们发现了JME中ffa -杏仁核网络改变的初步证据。特别是,右侧杏仁核显示出更大的抑制性自我连接,这表明对外部输入的敏感性普遍降低,可能会影响社交和情绪处理。这强调在更大的样本中进一步探索网络结构,其行为含义以及与其他区域的连通性。
{"title":"Effective connectivity of face and fear processing in juvenile myoclonic epilepsy","authors":"Christina Münchberger ,&nbsp;Kristina Krause ,&nbsp;Louise Linka ,&nbsp;Sascha Strehlau ,&nbsp;Anna Sophia Huber ,&nbsp;Julia Freigang ,&nbsp;Andreas Jansen ,&nbsp;Katja Menzler ,&nbsp;Susanne Knake ,&nbsp;Kristin M. Rusch","doi":"10.1016/j.yebeh.2025.110863","DOIUrl":"10.1016/j.yebeh.2025.110863","url":null,"abstract":"<div><h3>Objective</h3><div>Individuals with Juvenile Myoclonic Epilepsy (JME) exhibit impaired facial emotion perception, especially regarding fear. However, the underlying neural mechanisms remain to be fully understood. Particularly, the connectivity between emotion-related regions, such as the amygdala, and visual face-processing areas, specifically the Fusiform Face Area (FFA), appears to be relevant for typical facial fear processing. We therefore explored the effective connectivity within the FFA-amygdala network in JME.</div></div><div><h3>Methods</h3><div>Fourteen individuals diagnosed with JME and 14 healthy controls matched for age, sex, and alexithymia (i.e., emotional awareness) participated in an fMRI face-viewing experiment. Participants were presented with images of neutral and fearful faces, as well as houses. Using Dynamic Causal Modelling, we examined endogenous connectivity, modulation by task conditions, and the influence of experimental inputs within the bilateral FFA-amygdala network (n = 24), incorporating both intra- and interhemispheric connections.</div></div><div><h3>Results</h3><div>Compared to healthy controls, we found alterations mainly in the task-independent endogenous structure of the FFA-amygdala network in JME. The self-connection of the right amygdala was particularly enhanced, with the same tendency observed for the left amygdala and the right FFA. Furthermore, aberrations were indicated in the interhemispheric transfer between the amygdalae under the modulation of fear. Exploratory analyses revealed correlations of neural activity, and neural network parameters with both the onset and duration of epilepsy.</div></div><div><h3>Conclusion</h3><div>Overall, we found initial evidence of alterations in the FFA-amygdala network in JME. Particularly, the right amygdala showed a greater inhibitory self-connection, which suggests a generally reduced sensitivity to external input and might affect social and emotional processing. This emphasizes further exploring the network structure, its behavioural implications, and connectivity with other regions in larger samples.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110863"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145898142","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
The social and occupational functioning Scale for epilepsy (SOFSE): Russian adaptation and psychometric performance in adults with epilepsy 癫痫社会和职业功能量表(SOFSE):成人癫痫患者的俄语适应和心理测量表现
IF 2.3 3区 医学 Q2 BEHAVIORAL SCIENCES Pub Date : 2026-03-01 Epub Date: 2026-01-24 DOI: 10.1016/j.yebeh.2026.110911
Anna Gersamija , Georgii Kustov , Ilya Mishin , Mikhail Zinchuk , Flora Rider , Alla Guekht

Objective

To develop and validate a Russian version of the Social and Occupational Functioning Scale for Epilepsy (SOFSE), addressing the lack of a validated Russian-language instrument for assessing social functioning in people with epilepsy (PWE), despite the high prevalence of epilepsy and persistent stigma in the Russian Federation.

Methods

Following established cross-cultural adaptation guidelines, the Russian SOFSE was administered to 545 consecutively recruited adults with epilepsy (mean age 43.2 years; 53.9 % women) at a Level 2 Epilepsy Center, alongside the Hospital Anxiety and Depression Scale (HADS) and QOLIE-31. Factor structure (via confirmatory factor analysis), internal consistency (McDonald’s ω), and discriminant validity were assessed.

Results

Confirmatory factor analysis supported a unidimensional structure (RMSEA = 0.051; CFI = 0.955; TLI = 0.946). McDonald’s ω coefficients ranged from 0.51 (‘With a paying job’) to 0.80 (‘Instrumental Living Skills’), indicating adequate internal consistency overall, though somewhat lower for the employment-related subscale. Cluster analysis identified two groups with differential functional impairment (n = 352 vs. 193). Individuals in the impaired cluster demonstrated significantly poorer quality of life (QOLIE-31 total: 45.1 ± 29.5 vs. 61.9 ± 14.9; p < 0.001) and higher levels of depressive (HADS-D: 8.4 ± 4.1 vs. 4.65 ± 3.3; p < 0.001) and anxiety symptoms (HADS-A: 9.5 ± 4.4 vs. 6.4 ± 4.1; p < 0.001).

Conclusions

The Russian SOFSE shows overall adequate psychometric properties and is a clinically feasible instrument for assessing social functioning in PWE, although reliability was somewhat weaker for leisure and work-related items. Its strong association with depression and quality of life highlights the importance of routinely screening for psychiatric comorbidities – particularly depression – and integrating biopsychosocial interventions (e.g., psychological support, rehabilitation) to mitigate functional decline.
目的开发并验证俄文版的癫痫社会和职业功能量表(SOFSE),以解决在俄罗斯联邦癫痫高患病率和持续耻辱的情况下,缺乏有效的俄语工具来评估癫痫患者(PWE)的社会功能。方法:遵循已建立的跨文化适应指南,在二级癫痫中心连续招募545名癫痫成人(平均年龄43.2岁,53.9%为女性),同时使用医院焦虑和抑郁量表(HADS)和QOLIE-31。因子结构(通过验证性因子分析)、内部一致性(麦当劳ω)和判别效度进行评估。结果验证性因子分析支持单维结构(RMSEA = 0.051; CFI = 0.955; TLI = 0.946)。麦当劳的ω系数范围从0.51(“有一份有报酬的工作”)到0.80(“工具性生活技能”),表明总体上有足够的内部一致性,尽管与就业相关的子量表略低。聚类分析确定了两组不同的功能障碍(n = 352 vs. 193)。受损组的个体表现出明显较差的生活质量(QOLIE-31总分:45.1±29.5比61.9±14.9;p < 0.001)和较高水平的抑郁(HADS-D: 8.4±4.1比4.65±3.3;p < 0.001)和焦虑症状(HADS-A: 9.5±4.4比6.4±4.1;p < 0.001)。结论俄罗斯SOFSE显示出全面的心理测量特性,是一种临床可行的评估PWE社会功能的工具,尽管在休闲和工作项目上的可靠性稍弱。它与抑郁症和生活质量的密切联系突出了常规筛查精神疾病合并症(特别是抑郁症)和整合生物心理社会干预(如心理支持、康复)以减轻功能衰退的重要性。
{"title":"The social and occupational functioning Scale for epilepsy (SOFSE): Russian adaptation and psychometric performance in adults with epilepsy","authors":"Anna Gersamija ,&nbsp;Georgii Kustov ,&nbsp;Ilya Mishin ,&nbsp;Mikhail Zinchuk ,&nbsp;Flora Rider ,&nbsp;Alla Guekht","doi":"10.1016/j.yebeh.2026.110911","DOIUrl":"10.1016/j.yebeh.2026.110911","url":null,"abstract":"<div><h3>Objective</h3><div>To develop and validate a Russian version of the Social and Occupational Functioning Scale for Epilepsy (SOFSE), addressing the lack of a validated Russian-language instrument for assessing social functioning in people with epilepsy (PWE), despite the high prevalence of epilepsy and persistent stigma in the Russian Federation.</div></div><div><h3>Methods</h3><div>Following established cross-cultural adaptation guidelines, the Russian SOFSE was administered to 545 consecutively recruited adults with epilepsy (mean age 43.2 years; 53.9 % women) at a Level 2 Epilepsy Center, alongside the Hospital Anxiety and Depression Scale (HADS) and QOLIE-31. Factor structure (via confirmatory factor analysis), internal consistency (McDonald’s ω), and discriminant validity were assessed.</div></div><div><h3>Results</h3><div>Confirmatory factor analysis supported a unidimensional structure (RMSEA = 0.051; CFI = 0.955; TLI = 0.946). McDonald’s ω coefficients ranged from 0.51 (‘With a paying job’) to 0.80 (‘Instrumental Living Skills’), indicating adequate internal consistency overall, though somewhat lower for the employment-related subscale. Cluster analysis identified two groups with differential functional impairment (n = 352 vs. 193). Individuals in the impaired cluster demonstrated significantly poorer quality of life (QOLIE-31 total: 45.1 ± 29.5 vs. 61.9 ± 14.9; p &lt; 0.001) and higher levels of depressive (HADS-D: 8.4 ± 4.1 vs. 4.65 ± 3.3; p &lt; 0.001) and anxiety symptoms (HADS-A: 9.5 ± 4.4 vs. 6.4 ± 4.1; p &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>The Russian SOFSE shows overall adequate psychometric properties and is a clinically feasible instrument for assessing social functioning in PWE, although reliability was somewhat weaker for leisure and work-related items. Its strong association with depression and quality of life highlights the importance of routinely screening for psychiatric comorbidities – particularly depression – and integrating biopsychosocial interventions (e.g., psychological support, rehabilitation) to mitigate functional decline.</div></div>","PeriodicalId":11847,"journal":{"name":"Epilepsy & Behavior","volume":"176 ","pages":"Article 110911"},"PeriodicalIF":2.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146035066","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
期刊
Epilepsy & Behavior
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1