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Experiences of pregnancy and reproductive health for women living with epilepsy: A systematic review 癫痫患者妊娠和生殖健康经验:系统综述
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-17 DOI: 10.1016/j.seizure.2025.10.011
Weckesser Annalise , Hughes Anita , Dyson Judith , Raju Sereena , Chatterjee Anwesa , Nelson-Piercy Catherine , Black Mairead , Moss Ngawai , Craig John , Olalere Oladipupo , Junaid Fatima , Allotey John , Thangaratinam Shakila , Denny Elaine

Purpose

This study provides an up-to-date systematic review and thematic synthesis of pregnancy and reproductive health experiences of women with epilepsy. Understandings of women’s experiences are essential to designing effective quality of care interventions that will lead to needed improvements in maternal health outcomes.

Methods

We undertook a systematic search of medical, social science and psychology databases to identify studies conducted from 2012 to 2024 that employed qualitative methods or qualitative methods within a mixed method design. We conducted a thematic analysis of qualitative results from identified studies to synthesize findings.

Results

Eleven publications from nine studies were identified. Six focused on the experiences of women with epilepsy during pregnancy, while five explored their experiences of reproductive health more generally. Most publications (n = 10) were of high methodological quality. Across the pre-pregnancy, antenatal, and postnatal periods, women navigate a landscape defined by uncertainty, inadequate and conflicting information, and poorly coordinated care, all while managing significant anxieties and stigma.

Conclusion

A persistent inertia exists in improvements to healthcare practice supporting the pregnancies of women with epilepsy. Gaps remain in the provision of timely pre-conception counselling, clear guidance on medication and breastfeeding, and crucially, of sensitive communication on the risk of Sudden Unexpected Death in Epilepsy. More research with women from a diversity of socio-cultural, ethnic, and socioeconomic backgrounds is needed to ensure interventions are informed by their experiences. Moving beyond the identified inertia requires a commitment to transforming care from a model of management to one of holistic, woman-centered support.
目的:本研究对癫痫妇女妊娠和生殖健康经验进行了最新的系统综述和专题综合。了解妇女的经历对于设计有效的高质量护理干预措施至关重要,这些干预措施将导致必要的产妇保健结果改善。方法系统检索医学、社会科学和心理学数据库,找出2012 - 2024年间采用定性方法或混合方法设计的定性方法的研究。我们对确定的研究的定性结果进行了专题分析,以综合研究结果。结果从9篇研究中筛选出6篇文献。其中6项研究侧重于怀孕期间癫痫妇女的经历,而5项研究则更广泛地探讨了她们在生殖健康方面的经历。大多数出版物(n = 10)具有较高的方法学质量。在怀孕前、产前和产后期间,妇女面临着不确定、信息不充分和相互矛盾、护理协调不佳的局面,同时还要应对严重的焦虑和耻辱。结论在改善癫痫患者妊娠保健实践方面存在持续的惰性。在提供及时的孕前咨询、关于药物和母乳喂养的明确指导以及至关重要的关于癫痫猝死风险的敏感沟通方面仍然存在差距。需要对来自不同社会文化、种族和社会经济背景的妇女进行更多的研究,以确保干预措施是根据她们的经历进行的。要克服已确定的惰性,就需要承诺将护理从一种管理模式转变为一种以妇女为中心的整体支持模式。
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引用次数: 0
Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome 新的PAK1变异与从轻度发育迟缓到婴儿癫痫痉挛综合征的可变表型谱有关。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-16 DOI: 10.1016/j.seizure.2025.10.010
Ting Wang , Shijia Ouyang , Dongfang Zou , Zeyong Dong , Zeshi Tan , Haipo Yang , Jianxiang Liao , Dezhi Cao , Yuehua Zhang

Objective

To identify the novel variants and explore the new phenotypes of patients with PAK1-related disorder.

Methods

Five patients with PAK1 variants were identified by whole-exon sequencing. Damaging effects of variants were analyzed using protein modelling.

Results

In this study, 5 patients were identified with 5 de novo PAK1 variants, including p.Ile312Ser, p.Asp407Asn, p.Met453Thr, p.Leu470Pro, and p.Ile476Thr. All variants were missense, and one of which was a mosaic variant (Leu470Pro), with a variant allele fraction of 13.4 % (13/97). Four of five patients with PAK1 variants had epilepsy, the seizure types included focal seizures, generalized tonic-clonic seizure and epileptic spasms. One patient diagnosed with infantile epileptic spasms syndrome (IESS). Four patients had macrocephaly. One patient only had mild developmental delay (DD) and normal head circumference. All missense variants identified in this study were predicted to be “damaging” by multiple in silico tools and to alter the hydrogen bonds with surrounding residues and/or protein stability. Notably, the variant Asp407Asn associated with a milder phenotype is predicted to have increased hydrogen bonds with ATP in contrast to our other reported variants. Spatial and temporal expression analysis showed that PAK1 had three peak expressions in infant, adolescent and early adult brain subregions. Collectively, in our study (n = 5) and published studies (n = 11), all variants were missense variants. PAK1-related disorders encompass a wide phenotypic spectrum, including macrocephaly, epilepsy and DD/intellectual disability (ID). Seizures were observed in 81.25 % (13/16) of patients, and 53.8 % (7/13) patients with epilepsy had febrile seizure.

Conclusions

All variants of PAK1-related disorders were missense variants. In this study, five de novo variants were included, and Leu470Pro was the first reported mosaic variant in PAK1. PAK1-related disorders encompass a wide phenotypic spectrum, including macrocephaly, epilepsy and DD/ID. IESS is a rare newly recognized phenotype of PAK1-related epilepsy. More than half of patients with epilepsy had febrile seizure.
目的:鉴定pak1相关疾病患者的新变异并探索其新的表型。方法:采用全外显子测序方法对5例PAK1变异患者进行鉴定。利用蛋白质模型分析了变异的破坏性影响。结果:在本研究中,5例患者被鉴定出5种新发PAK1变异,包括p.i ile312ser、p.p asp407asn、p.Met453Thr、p.p ile470pro和p.p ile476thr。所有变异均为错义,其中1个为马赛克变异(Leu470Pro),变异等位基因分数为13.4%(13/97)。PAK1变异的5例患者中有4例有癫痫,发作类型包括局灶性发作、全身性强直阵挛性发作和癫痫性痉挛。1例诊断为婴儿癫痫痉挛综合征(IESS)。4例患者有大头畸形。一名患者只有轻度发育迟缓(DD)和头围正常。本研究中发现的所有错义变异都被多种硅工具预测为“破坏性”,并改变与周围残基和/或蛋白质稳定性的氢键。值得注意的是,与我们报道的其他变体相比,与温和表型相关的Asp407Asn变体预计与ATP的氢键增加。时空表达分析显示,PAK1在婴儿、青少年和成人早期脑区有三个峰值表达。总的来说,在我们的研究(n = 5)和已发表的研究(n = 11)中,所有的变异都是错义变异。pak1相关疾病包括广泛的表型谱,包括大头畸形、癫痫和DD/智力残疾(ID)。81.25%(13/16)的患者出现癫痫发作,53.8%(7/13)的患者出现热性癫痫发作。结论:pak1相关疾病的所有变异均为错义变异。在这项研究中,包括了5个新的变异,Leu470Pro是PAK1中第一个报道的马赛克变异。pak1相关疾病包括广泛的表型谱,包括大头畸形、癫痫和DD/ID。IESS是一种罕见的新发现的pak1相关癫痫表型。超过一半的癫痫患者有热性发作。
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引用次数: 0
Predicting oxcarbazepine-induced hyponatremia in adult epilepsy patients: A multicenter machine learning analysis using real-world CDM data 预测成人癫痫患者奥卡西平诱导的低钠血症:使用真实世界CDM数据的多中心机器学习分析。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-16 DOI: 10.1016/j.seizure.2025.10.004
Gucheol Jung , JaeHyeok Lee , Sung-Min Gho , YoungMi Han , ByungKwan Choi , Jae Wook Cho , Jiyoung Kim , Gha-hyun Lee

Purpose

Oxcarbazepine (OXC) is a widely used antiseizure medication (ASM) associated with hyponatremia. This study aimed to assess the prevalence and risk factors for OXC-induced severe hyponatremia using machine learning (ML) models applied to multicenter real-world data standardized within the Observational Medical Outcomes Partnership–Common Data Model (OMOP–CDM).

Methods

We conducted a retrospective cohort study using OMOP-CDM data from two tertiary hospitals in South Korea. Adult epilepsy patients prescribed OXC were included, and severe hyponatremia was defined as a serum sodium concentration ≤128 mmol/L. Two prediction experiments were conducted: (1) single-institution training and external validation of an XGBoost model; and (2) multicenter training and evaluation of five machine learning algorithms, including XGBoost, random forest, support vector machine, logistic regression, and naïve Bayes. SHAP (SHapley Additive exPlanations) values were used for model interpretation.

Results

Among 2253 patients, the prevalence of severe hyponatremia was 8.4%. In Experiment 1, XGBoost showed strong internal performance (AUROC 0.82) but decreased external performance (AUROC 0.72). In Experiment 2, XGBoost trained on multicenter data achieved the highest AUROC (0.83) and F1-score (0.41), outperforming other models. SHAP analysis identified key predictors including valproate use, diuretics, high OXC dosage, age, and stroke history. Additional medications such as beta-blockers, calcium channel blockers, hypnotics, and other ASMs (e.g., levetiracetam, pregabalin, lacosamide) also contributed to risk.

Conclusion

XGBoost demonstrated robust predictive performance for OXC-induced severe hyponatremia using multicenter CDM data. SHAP-based interpretation revealed clinically relevant risk factors, supporting the implementation of personalized monitoring strategies in epilepsy care.
目的:奥卡西平(OXC)是一种广泛应用于低钠血症的抗癫痫药物(ASM)。本研究旨在利用机器学习(ML)模型评估oxc诱导的严重低钠血症的患病率和危险因素,该模型应用于观察性医疗结果合作伙伴关系-公共数据模型(OMOP-CDM)中标准化的多中心真实世界数据。方法:我们使用韩国两家三级医院的OMOP-CDM数据进行了回顾性队列研究。纳入处方OXC的成人癫痫患者,重度低钠血症定义为血清钠浓度≤128 mmol/L。进行了两项预测实验:(1)XGBoost模型的单机构训练和外部验证;(2) XGBoost、随机森林、支持向量机、逻辑回归、naïve贝叶斯五种机器学习算法的多中心训练与评价。采用SHapley加性解释(SHapley Additive explanation)值进行模型解释。结果:2253例患者中,重度低钠血症患病率为8.4%。在实验1中,XGBoost表现出较强的内部性能(AUROC为0.82),但外部性能下降(AUROC为0.72)。在实验2中,在多中心数据上训练的XGBoost获得了最高的AUROC(0.83)和F1-score(0.41),优于其他模型。SHAP分析确定的关键预测因素包括丙戊酸盐使用、利尿剂、高氧血氧浓度、年龄和卒中史。其他药物如-受体阻滞剂、钙通道阻滞剂、催眠药和其他抗痉挛药物(如左乙拉西坦、普瑞巴林、拉科沙胺)也会增加风险。结论:使用多中心CDM数据,XGBoost对oxc诱导的严重低钠血症具有强大的预测性能。基于shap的解释揭示了临床相关的危险因素,支持在癫痫护理中实施个性化监测策略。
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引用次数: 0
Visualizing diagnostic delays in functional/dissociative seizures using the referral odyssey plot: A retrospective cohort study 使用转诊奥德赛图可视化功能性/分离性癫痫的诊断延迟:一项回顾性队列研究。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-13 DOI: 10.1016/j.seizure.2025.10.009
Kazutoshi Konomatsu , Yosuke Kakisaka , Maimi Ogawa , Mayu Fujikawa , Makoto Ishida , Takafumi Kubota , Kazushi Ukishiro , Nobukazu Nakasato , Masashi Aoki , Kazutaka Jin

Background

Functional/dissociative seizures (FDS) are often misdiagnosed as epilepsy, leading to delays in appropriate interventions. Although certain factors are associated with diagnostic delays, the overall referral trajectory remains unclear. This study aimed to illustrate the diagnostic journey with a novel visual approach, the “referral odyssey plot,” and to depict patient pathways and identify factors associated with referral delays and diagnosis.

Methods

We retrospectively reviewed 50 patients diagnosed with documented FDS at Tohoku University Hospital (2014–2024). All patients underwent comprehensive inpatient evaluation, including long-term video-electroencephalogram monitoring, brain MRI, and psychosocial assessment. Four milestones were defined: seizure onset (T1), first non-epileptologist visit (T2), first epileptologist consultation (T3), and epilepsy monitoring unit admission (T4). Diagnostic pathways were visualized using a referral odyssey plot. Associations between variables and intervals were analyzed using Spearman’s correlation, Friedman test, Mann–Whitney U test, and Kruskal–Wallis test.

Results

The median total delay (T1–T4) was 51 months (interquartile range: IQR, 83.8). The longest delay occurred between T2 and T3 (median, 41 months; IQR, 74.8) and strongly correlated with total delay (ρ=0.95, p < 0.001). Younger age at onset and a family history of epilepsy were significantly associated with longer T2–T3 intervals. Seizure worry scores were negatively correlated with T1–T2 intervals.

Conclusion

Referral delay to an epileptologist was the main contributor to prolonged diagnosis of FDS. The referral odyssey plot visualized individual trajectories and bottlenecks, supporting earlier specialist referrals. These findings highlight the need for timely access to epileptologists experienced in the comprehensive evaluation of epilepsy and FDS.
背景:功能性/解离性癫痫(FDS)经常被误诊为癫痫,导致适当干预的延误。虽然某些因素与诊断延误有关,但总体转诊轨迹仍不清楚。本研究旨在用一种新颖的视觉方法来说明诊断过程,即“转诊奥德赛图”,并描绘患者的路径,并确定与转诊延迟和诊断相关的因素。方法:回顾性分析2014-2024年在东北大学医院诊断为FDS的50例患者。所有患者都接受了全面的住院评估,包括长期视频脑电图监测、脑MRI和心理社会评估。定义了四个里程碑:癫痫发作(T1)、首次非癫痫医生就诊(T2)、首次癫痫医生会诊(T3)和癫痫监测单位入院(T4)。使用转诊奥德赛图可视化诊断途径。采用Spearman相关、Friedman检验、Mann-Whitney U检验和Kruskal-Wallis检验分析变量与区间之间的关联。结果:中位总延迟(T1-T4)为51个月(四分位数差:IQR, 83.8)。最长的延迟发生在T2和T3之间(中位41个月;IQR, 74.8),并与总延迟密切相关(ρ=0.95, p < 0.001)。起病年龄较小和癫痫家族史与较长的T2-T3间期显著相关。发作焦虑评分与T1-T2时间间隔呈负相关。结论:转诊延迟是导致FDS诊断延长的主要原因。转诊奥德赛图可视化个人轨迹和瓶颈,支持早期专家转诊。这些发现强调需要及时获得在癫痫和FDS综合评估方面经验丰富的癫痫学家。
{"title":"Visualizing diagnostic delays in functional/dissociative seizures using the referral odyssey plot: A retrospective cohort study","authors":"Kazutoshi Konomatsu ,&nbsp;Yosuke Kakisaka ,&nbsp;Maimi Ogawa ,&nbsp;Mayu Fujikawa ,&nbsp;Makoto Ishida ,&nbsp;Takafumi Kubota ,&nbsp;Kazushi Ukishiro ,&nbsp;Nobukazu Nakasato ,&nbsp;Masashi Aoki ,&nbsp;Kazutaka Jin","doi":"10.1016/j.seizure.2025.10.009","DOIUrl":"10.1016/j.seizure.2025.10.009","url":null,"abstract":"<div><h3>Background</h3><div>Functional/dissociative seizures (FDS) are often misdiagnosed as epilepsy, leading to delays in appropriate interventions. Although certain factors are associated with diagnostic delays, the overall referral trajectory remains unclear. This study aimed to illustrate the diagnostic journey with a novel visual approach, the “referral odyssey plot,” and to depict patient pathways and identify factors associated with referral delays and diagnosis.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 50 patients diagnosed with documented FDS at Tohoku University Hospital (2014–2024). All patients underwent comprehensive inpatient evaluation, including long-term video-electroencephalogram monitoring, brain MRI, and psychosocial assessment. Four milestones were defined: seizure onset (T1), first non-epileptologist visit (T2), first epileptologist consultation (T3), and epilepsy monitoring unit admission (T4). Diagnostic pathways were visualized using a referral odyssey plot. Associations between variables and intervals were analyzed using Spearman’s correlation, Friedman test, Mann–Whitney <em>U</em> test, and Kruskal–Wallis test.</div></div><div><h3>Results</h3><div>The median total delay (T1–T4) was 51 months (interquartile range: IQR, 83.8). The longest delay occurred between T2 and T3 (median, 41 months; IQR, 74.8) and strongly correlated with total delay (ρ=0.95, <em>p</em> &lt; 0.001). Younger age at onset and a family history of epilepsy were significantly associated with longer T2–T3 intervals. Seizure worry scores were negatively correlated with T1–T2 intervals.</div></div><div><h3>Conclusion</h3><div>Referral delay to an epileptologist was the main contributor to prolonged diagnosis of FDS. The referral odyssey plot visualized individual trajectories and bottlenecks, supporting earlier specialist referrals. These findings highlight the need for timely access to epileptologists experienced in the comprehensive evaluation of epilepsy and FDS.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"133 ","pages":"Pages 61-67"},"PeriodicalIF":2.8,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145318885","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 safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis 维加巴林作为预防治疗儿童结节性硬化症的疗效和安全性:一项系统综述和荟萃分析
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-11 DOI: 10.1016/j.seizure.2025.10.008
Nagita Devi , Pooja Soni , Priyanka Madaan , Indrasish Ray Chaudhuri , Vaishakh Anand , Dipika Bansal , Jitendra Kumar Sahu , Kollencheri Puthenveettil Vinayan , Sheffali Gulati

Purpose

Tuberous sclerosis complex (TSC) is associated with early-onset epilepsy, often leading to drug-resistant epilepsy (DRE) and developmental impairment. Preventive therapy with vigabatrin (VGB) has been proposed as a strategy to modify disease progression, but its efficacy and safety remain uncertain. This systematic review and meta-analysis aimed to evaluate the impact of preventive VGB therapy on seizure occurrence [including infantile epileptic spasms syndrome (IESS) and DRE], neurocognitive outcomes, and adverse events in infants with TSC.

Methods

We performed a systematic search of MEDLINE, EMBASE, Scopus, and Web of Science. Studies were eligible if they enrolled infants with TSC without prior seizures and compared preventive VGB to standard treatment. Risk of bias was assessed using the ROB 2.0 tool for randomized trials and the Newcastle-Ottawa Scale for observational studies. Meta-analyses were performed using a random-effects model, with results expressed as risk ratios (RR) or standardized mean differences (SMD) and 95 % confidence intervals (CI).

Results

Three studies with 149 children were included. There was reduced occurrence of seizures (including IESS and DRE) in the preventive therapy group (39/68 vs 64/81). However, the risk ratios were not statistically significant for occurrence of seizures (RR: 0.72; 95 % CI: 0.47–1.10), IESS (RR: 0.23; 95 % CI: 0.04–1.25), and DRE (RR: 0.74; 95 % CI: 0.49–1.12). Neurocognitive outcomes did not differ significantly between the two groups (SMD: 0.35; 95 % CI: -0.21– 0.91). Preventive vigabatrin was generally well-tolerated, with few adverse events and rare treatment discontinuation reported.

Conclusion

Preventive vigabatrin therapy may prevent the development of epilepsy, including IESS and DRE, in children with TSC, with an acceptable safety profile. Although statistical significance was not achieved, the favorable trend highlights the potential clinical benefits of early intervention with VGB. Larger, high-quality randomized trials are warranted to confirm these findings and explore the long-term neurodevelopmental outcomes.
目的结节性硬化症(TSC)与早发性癫痫有关,常导致耐药癫痫(DRE)和发育障碍。vigabatrin (VGB)预防性治疗已被提议作为改变疾病进展的策略,但其有效性和安全性仍不确定。本系统综述和荟萃分析旨在评估预防性VGB治疗对TSC婴儿癫痫发作(包括婴儿癫痫性痉挛综合征(IESS)和DRE)、神经认知结局和不良事件的影响。方法系统检索MEDLINE、EMBASE、Scopus和Web of Science。如果他们招募了没有癫痫发作的TSC婴儿,并将预防性VGB与标准治疗进行比较,则研究是合格的。随机试验使用ROB 2.0工具评估偏倚风险,观察性研究使用纽卡斯尔-渥太华量表评估偏倚风险。采用随机效应模型进行meta分析,结果以风险比(RR)或标准化平均差异(SMD)和95%置信区间(CI)表示。结果纳入3项研究,共149名儿童。预防治疗组癫痫发作(包括IESS和DRE)发生率降低(39/68 vs 64/81)。然而,癫痫发作(RR: 0.72; 95% CI: 0.47-1.10)、IESS (RR: 0.23; 95% CI: 0.04-1.25)和DRE (RR: 0.74; 95% CI: 0.49-1.12)发生的风险比无统计学意义。两组间神经认知结果无显著差异(SMD: 0.35; 95% CI: -0.21 - 0.91)。预防性维加巴林通常耐受性良好,很少有不良事件和罕见的停药报道。结论预防性维他林治疗可预防TSC患儿癫痫的发生,包括IESS和DRE,且具有可接受的安全性。虽然没有达到统计学意义,但这种良好的趋势突出了VGB早期干预的潜在临床益处。需要更大规模、高质量的随机试验来证实这些发现,并探索长期的神经发育结果。
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引用次数: 0
Effectiveness of nurse led intervention on quality of life, cost effectiveness and drug management in patients with epilepsy: Systematic review of randomized control trials 护士主导干预对癫痫患者生活质量、成本效益和药物管理的效果:随机对照试验的系统评价
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-10 DOI: 10.1016/j.seizure.2025.10.006
Pushpa , Mamta , Uma Phalswal , Raman Kalia

Background

Epilepsy is a long-term neurological condition marked by recurring seizures and is among the most prevalent neurological disorders. The presence of stigma and negative societal views regarding epilepsy further exacerbates the condition. A wide treatment gap and a lack of medical professionals are major contributors; however, efforts to enhance care delivery and improve patient satisfaction have also emphasized the involvement of epilepsy specialist nurses. Nevertheless, the effectiveness of nurse-led interventions in improving the quality of life for individuals living with epilepsy remains uncertain.

Objective

To evaluate the effectiveness of nurse-led interventions on quality of life, cost-efficiency, and medication management among patients with epilepsy.

Design

Randomized controlled trials studies were selected only.

Data sources

A thorough literature search was carried out in PubMed Central, EBSCO host, Medline, and Scopus in January 2025 to locate peer-reviewed published studies. Two reviewers independently extracted and evaluated the data using a standardized assessment tool.

Results

Seven randomized controlled trials met the eligibility criteria and were included in this review. These studies detailed nurse-led interventions administered through both face-to-face interactions and telephone-based approaches. The interventions varied in their outcomes and the measurement instruments employed, with several studies noting participant attrition. Overall, the majority of studies indicated that nurse-led interventions led to improvements in quality of life, cost-effectiveness, and medication management among individuals with epilepsy.

Conclusion

The evidence indicates that nurse-led interventions are effective in managing care for individuals with epilepsy. This review highlights intervention strategies that may guide future clinical practice and research aimed at enhancing quality of life, cost-efficiency, and medication management for people living with epilepsy. Further investigations should focus on identifying the key components of successful nurse-led interventions, assessing their impact on quality of life and cost-effectiveness, and exploring their integration into routine clinical care.
癫痫是一种以反复发作为特征的长期神经系统疾病,是最常见的神经系统疾病之一。对癫痫的污名化和负面的社会观点进一步加剧了病情。很大的治疗差距和缺乏医疗专业人员是主要原因;然而,加强护理服务和提高患者满意度的努力也强调癫痫专科护士的参与。然而,护士主导的干预措施在改善癫痫患者生活质量方面的有效性仍不确定。目的评价护士主导的干预措施对癫痫患者生活质量、成本效益和药物管理的影响。设计只选择随机对照试验研究。数据来源我们于2025年1月在PubMed Central、EBSCO主机、Medline和Scopus上进行了全面的文献检索,以找到同行评审的已发表研究。两名审稿人使用标准化评估工具独立提取和评估数据。结果7项随机对照试验符合入选标准,纳入本综述。这些研究详细介绍了通过面对面互动和基于电话的方法进行的护士主导的干预措施。干预措施的结果和使用的测量工具各不相同,有几项研究注意到参与者的流失。总的来说,大多数研究表明,护士主导的干预措施改善了癫痫患者的生活质量、成本效益和药物管理。结论护士主导的干预措施对癫痫患者的护理管理是有效的。这篇综述强调了可能指导未来临床实践和研究的干预策略,旨在提高癫痫患者的生活质量、成本效益和药物管理。进一步的调查应侧重于确定成功的护士主导干预措施的关键组成部分,评估其对生活质量和成本效益的影响,并探索其与常规临床护理的结合。
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引用次数: 0
The role of psychological well-being in the effect of spirituality on stigma in individuals with epilepsy 心理健康在精神对癫痫患者病耻感的影响中的作用
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-10 DOI: 10.1016/j.seizure.2025.10.005
Yakup Sarpdağı , Mustafa Kiraz , Muhammet Okay Örün , Özkan Sir , Ebubekir Kaplan , Kemal Atan , Necmettin Çiftci , Metin Yıldız

Objective

The aim of this study is to examine the mediating role of psychological well-being in the effect of spirituality on stigma in individuals with epilepsy.

Methods

This cross-sectional and descriptive study was conducted between March 2024 and January 2025 at a training and research hospital in Van, Turkey, with 257 individuals aged 18 and above diagnosed with epilepsy. Data were collected using a Personal Information Form, the Spirituality Scale, the Psychological Well-being Scale, and the Stigma Scale for Epilepsy Patients. Data were analyzed using SPSS, R programming language 4.1.3 and G*Power software.

Results

This study showed that an increase in spirituality was positively associated with psychological well-being (β = 0.976, p < 0.001) and negatively associated with stigmatization (β = -0.752, p < 0.001). Furthermore, psychological well-being was found to be a partial mediator of the relationship between spirituality and stigmatization (indirect effect = -0.2938, 95% CI: -0.4506, -0.1418), suggesting that spirituality may be related to levels of stigmatization not only directly but also through psychological well-being.

Conclusion

The findings of this study indicate that spirituality plays a significant role in reducing stigma among individuals with epilepsy, with psychological well-being acting as a partial mediator in this relationship. As levels of spirituality and psychological well-being increase, perceived stigma decreases. These results highlight the importance of spirituality and psychological well-being in interventions aimed at reducing stigma and improving mental health.
目的探讨心理健康在精神治疗对癫痫患者病耻感的影响中的中介作用。方法本横断面描述性研究于2024年3月至2025年1月在土耳其Van的一家培训和研究医院进行,共有257名18岁及以上的癫痫患者。数据采用个人信息表、精神量表、心理健康量表和癫痫患者污名化量表收集。采用SPSS、R 4.1.3编程语言和G*Power软件对数据进行分析。结果本研究显示,灵性的增加与心理健康呈正相关(β = 0.976, p < 0.001),与污名化负相关(β = -0.752, p < 0.001)。此外,我们还发现心理健康是精神性和污名化之间关系的部分中介(间接效应= -0.2938,95% CI: -0.4506, -0.1418),这表明精神性不仅直接与污名化水平相关,而且可能通过心理健康与之相关。结论精神在减少癫痫患者的病耻感中起着重要作用,而心理健康在这一关系中起部分中介作用。随着精神和心理健康水平的提高,感知到的耻辱减少。这些结果突出了精神和心理健康在旨在减少耻辱感和改善心理健康的干预措施中的重要性。
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引用次数: 0
Understanding the neurobiology of infantile epileptic spasms syndrome (IESS): A comprehensive review 了解婴儿癫痫性痉挛综合征(IESS)的神经生物学:一个全面的综述
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-10 DOI: 10.1016/j.seizure.2025.10.007
Abhinav Modgil , Zubin Singh Rana , Jitendra Kumar Sahu , Pradeep Punnakkal
Infantile Epileptic Spasms Syndrome (IESS) is a developmental and epileptic encephalopathy of infantile-onset and is characterized by epileptic spasms and often a hypsarrhythmia pattern on interictal electroencephalogram. The neurobiology of IESS involves diverse factors, including genetics, neurochemical imbalances, structural impairments, metabolic derangements, and immune system dysregulation, all of which contribute to its pathogenesis. A key mechanism in IESS is an imbalance between excitatory and inhibitory neurotransmission. Early disruption of GABAergic signaling, along with pathogenic variations in genes encoding ion channels leads to hyperexcitability observed in children with IESS. Neurotrophic factors, such as brain-derived neurotrophic factor (BDNF), nerve growth factor (β-NGF), and insulin-like growth factors (IGF-1 and IGF-2) play a crucial role in forming neural connections, regulating nerve cell differentiation, and promoting normal brain development and function. An imbalance among these factors may also lead to brain hyperexcitability. Additionally, glutamate-mediated excitotoxicity also contributes to the development of IESS. Cortical and brainstem pathways, along with immune system dysregulations are involved in IESS pathogenesis. Conversely, Positron Emission Tomography (PET) imaging studies demonstrate that abnormal cortical activity influences downstream serotonergic nuclei in the brainstem. Temporal misalignment during central nervous system maturation is also hypothesized to trigger IESS. Animal models, including both genetic and acquired types have offered important insights into how ARX genetic variations, CRH signaling, and disruptions in cortical-subcortical interactions contribute to the condition. Despite the advancement in understanding of the disease, still IESS remains a significant therapeutic challenge. Early diagnosis and targeted interventions are critical for improving developmental outcomes, control of epileptic spasms, and treatment efficacy.
婴儿癫痫性痉挛综合征(IESS)是一种儿童期发病的发展性和癫痫性脑病,其特征是癫痫性痉挛,间断性脑电图常显示心律失常。IESS的神经生物学涉及多种因素,包括遗传、神经化学失衡、结构损伤、代谢紊乱和免疫系统失调,所有这些因素都有助于其发病机制。IESS的一个关键机制是兴奋性和抑制性神经传递的不平衡。gaba能信号的早期破坏,以及编码离子通道的基因的致病变异,导致IESS儿童观察到的高兴奋性。神经营养因子,如脑源性神经营养因子(BDNF)、神经生长因子(β-NGF)和胰岛素样生长因子(IGF-1和IGF-2)在形成神经连接、调节神经细胞分化、促进大脑正常发育和功能方面发挥着至关重要的作用。这些因素之间的不平衡也可能导致大脑过度兴奋。此外,谷氨酸介导的兴奋性毒性也有助于IESS的发展。皮质和脑干通路以及免疫系统失调参与了IESS的发病机制。相反,正电子发射断层扫描(PET)成像研究表明,异常皮层活动影响脑干下游的血清素能核。在中枢神经系统成熟过程中,颞叶错位也被认为会引发IESS。动物模型,包括遗传和获得性模型,为了解ARX遗传变异、CRH信号传导和皮层-皮层下相互作用的破坏如何导致这种情况提供了重要的见解。尽管对这种疾病的了解有所进展,但IESS仍然是一个重大的治疗挑战。早期诊断和有针对性的干预对于改善发育结果、控制癫痫痉挛和治疗效果至关重要。
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引用次数: 0
Clinical and demographic predictors of high epilepsy care utilization: mode of interaction, professionals involved, and reasons for contact 高癫痫护理使用率的临床和人口预测因素:互动模式、参与的专业人员和接触的原因。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-10 DOI: 10.1016/j.seizure.2025.10.003
Anna Hjorth , Saman Hosseini Ashtiani , André Idegård , Anneli Ozanne , Johan Zelano

Purpose

Most studies of care utilization in epilepsy predate the pandemic and the recent digitization of care delivery. The objective of this study was to characterize patients with high care utilization and identify predictors allowing proactive support.

Methods

We analyzed all health care contacts (n = 4673) in a cohort of 396 participants in a prospective epilepsy study (PREDICT, clinicaltrials.org: NCT04559919). Data was collected from medical records, patient surveys, and national registers. Participants were categorized into quartiles of high and low utilizers based on contact frequency and compared regarding demographic and clinical variables, which were also assessed as predictors in regression models. Contact patterns were analyzed by clustering analysis.

Results

Patients with the highest care utilization accounted for 62 % of contacts, which were mainly patient-initiated nurse interactions. High utilizers were younger (p = 0.003), had an earlier epilepsy onset (p = 0.002), and higher seizure frequency (p < 0.001) compared to those with the lowest utilization. Only 19 % of all contacts were physical appointments. The most common mode of contact with physicians was patient portal messages and with nurses phone calls. High utilizers had a predictable pattern of contacts and a high number of nurse contacts in the first three months was a signal for early identification of high utilizers (AUC 0.746).

Conclusion

Our study of epilepsy care utilization shows a high amount of digitized and patient-initiated contacts and an association between younger age and high utilization. A high number of initial nurse contacts is a predictor for high utilization, which could facilitate early identification.
目的:大多数关于癫痫护理利用的研究早于大流行和最近的护理服务数字化。本研究的目的是表征高护理利用率的患者,并确定允许主动支持的预测因素。方法:我们分析了一项前瞻性癫痫研究(PREDICT, clinicaltrials.org: NCT04559919)中396名参与者的所有卫生保健接触者(n = 4673)。数据收集自医疗记录、患者调查和国家登记册。根据接触频率将参与者分为高利用率和低利用率四分位数,并比较人口学和临床变量,这些变量也被评估为回归模型的预测因子。聚类分析接触模式。结果:护理使用率最高的患者占接触者的62%,接触者主要是患者主动的护士互动。与低使用率患者相比,高使用率患者更年轻(p = 0.003),癫痫发作更早(p = 0.002),癫痫发作频率更高(p < 0.001)。只有19%的接触是物理预约。与医生最常见的联系方式是患者门户信息和护士电话。高使用率者有可预测的接触模式,前三个月的高护士接触次数是早期识别高使用率者的信号(AUC 0.746)。结论:我们对癫痫护理利用的研究表明,数字化和患者主动联系的数量很高,年龄越小,使用率越高。高初始护士接触数预示着高使用率,这有助于早期识别。
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引用次数: 0
Pediatric frontal lobe epilepsy (FLE): Semiological distinctions from adult-onset FLE 儿童额叶癫痫(FLE):与成人起病FLE的符号学区别。
IF 2.8 3区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2025-10-09 DOI: 10.1016/j.seizure.2025.10.002
Dr Sujit A. Jagtap , Dr Zubin A. Shah , Dr Nilesh Kurwale , Dr. Sandeep Patil , Dr Aniruddha Joshi , Dr. Yogeshwari Deshmukh , Dr Sujit Nilegaonkar

Objective

To characterize seizure semiology, electroclinical features, and lesion localization in pediatric frontal lobe epilepsy (FLE), and to assess the applicability of the Bonini classification system, with comparison to adult-onset FLE.

Methods

We retrospectively analysed clinical, video-EEG, and neuroimaging data from 61 children with FLE who underwent presurgical evaluation between January 2015 and June 2023. Seizure semiology was categorised using Bonini’s system. Imaging findings were correlated with semiological features.

Results

The majority of patients had daily seizures (67.2 %) and clustering (88.5 %). Auras were rare (9.8 %), and focal to bilateral tonic-clonic seizures (FBTCS) occurred in only 3.2 %. Motor manifestations dominated the clinical picture, with Group 1 semiology (elementary motor signs) present in 59 % of cases, a frequency significantly higher than reported in adults. Emotional behaviours (Group 4) and integrated gestural behaviours (Group 3) were infrequent. Epileptic spasms occurred in children up to 5 years and were associated with focal lesions. Over half of the patients initially had normal MRIs, with subsequent detection of focal cortical dysplasia in 78.6 % of cases following advanced imaging techniques. There was no clear correlation between lesion location and seizure semiology. Fifty-three patients underwent surgery with 81 % seizure-free outcome after a median follow-up of 36 months.

Significance

Pediatric FLE exhibits distinct clinical patterns compared to adult FLE, including higher rates of motor-dominant semiology and lower incidence of auras and FBTCS. Bonini classification is applicable but may require pediatric-specific modifications. Accurate imaging interpretation is essential for identifying subtle dysplastic lesions in children.
目的:探讨小儿额叶癫痫(FLE)的发作符号学、电临床特征和病灶定位,并评估Bonini分类系统的适用性,并与成人发病的FLE进行比较。方法:我们回顾性分析了2015年1月至2023年6月期间接受术前评估的61例FLE儿童的临床、视频脑电图和神经影像学数据。用Bonini系统对癫痫符号学进行分类。影像学表现与符号学特征相关。结果:绝大多数患者有每日发作(67.2%)和聚集性发作(88.5%)。先兆罕见(9.8%),局灶性双侧强直-阵挛性发作(FBTCS)仅发生3.2%。运动表现在临床表现中占主导地位,第1组符号学(基本运动体征)出现在59%的病例中,明显高于成人报告的频率。情绪行为(第4组)和综合手势行为(第3组)不常见。癫痫痉挛发生在5岁以下的儿童中,并与局灶性病变有关。超过一半的患者最初有正常的核磁共振成像,在先进的成像技术下,78.6%的病例随后检测到局灶性皮质发育不良。病变部位与发作符号学无明显相关性。53例患者接受手术治疗,中位随访36个月后,81%的患者无癫痫发作。意义:与成人FLE相比,儿童FLE表现出不同的临床模式,包括更高的运动显性符号学发生率和更低的先兆和FBTCS发生率。博尼尼分类是适用的,但可能需要儿科特定的修改。准确的影像解释对于识别儿童细微的发育不良病变至关重要。
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引用次数: 0
期刊
Seizure-European Journal of Epilepsy
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