Pub Date : 2024-09-30DOI: 10.1016/j.seizure.2024.09.024
Kara L. Hom , Venkata Sita Priyanka Illapani , Hua Xie , Chima Oluigbo , L. Gilbert Vezina , William D. Gaillard , Taha Gholipour , Nathan T. Cohen
Objective
The purpose of this study was to evaluate the performance and generalizability of an automated, interpretable surface-based MRI classifier for the detection of focal cortical dysplasia.
Methods
This was a retrospective cohort incorporating MRIs from the epilepsy surgery (FCD and MRI-negative) and neuroimaging (healthy controls) databases at Children's National Hospital (CNH), and a publicly-available FCD Type II dataset from Bonn, Germany. Clinical characteristics and outcomes were abstracted from patient records and/or existing databases. Subjects were included if they had 3T epilepsy-protocol MRI. Manually-segmented FCD masks were compared to the automated masks generated by the Multi-centre Epilepsy Lesion Detection (MELD) FCD detection algorithm. Sensitivity/specificity were calculated.
Results
From CNH, 39 FCD pharmacoresistant epilepsy (PRE) patients, 19 healthy controls, and 19 MRI-negative patients were included. From Bonn, 85 FCD Type II were included, of which 68 passed preprocessing. MELD had varying performance (sensitivity) in these datasets: CNH FCD-PRE (54 %); Bonn (68 %); MRI-negative (44 %). In multivariate regression, FCD Type IIB pathology predicted higher chance of MELD automated lesion detection. All four patients who underwent resection/ablation of MELD-identified clusters achieved Engel I outcome.
Significance
We validate the performance of MELD automated, interpretable FCD classifier in a diverse pediatric cohort with FCD-PRE. We also demonstrate the classifier has relatively good performance in an independent FCD Type II cohort with pediatric-onset epilepsy, as well as simulated real-world value in a pediatric population with MRI-negative PRE.
{"title":"Application of preoperative MRI lesion identification algorithm in pediatric and young adult focal cortical dysplasia-related epilepsy","authors":"Kara L. Hom , Venkata Sita Priyanka Illapani , Hua Xie , Chima Oluigbo , L. Gilbert Vezina , William D. Gaillard , Taha Gholipour , Nathan T. Cohen","doi":"10.1016/j.seizure.2024.09.024","DOIUrl":"10.1016/j.seizure.2024.09.024","url":null,"abstract":"<div><h3>Objective</h3><div>The purpose of this study was to evaluate the performance and generalizability of an automated, interpretable surface-based MRI classifier for the detection of focal cortical dysplasia.</div></div><div><h3>Methods</h3><div>This was a retrospective cohort incorporating MRIs from the epilepsy surgery (FCD and MRI-negative) and neuroimaging (healthy controls) databases at Children's National Hospital (CNH), and a publicly-available FCD Type II dataset from Bonn, Germany. Clinical characteristics and outcomes were abstracted from patient records and/or existing databases. Subjects were included if they had 3T epilepsy-protocol MRI. Manually-segmented FCD masks were compared to the automated masks generated by the Multi-centre Epilepsy Lesion Detection (MELD) FCD detection algorithm. Sensitivity/specificity were calculated.</div></div><div><h3>Results</h3><div>From CNH, 39 FCD pharmacoresistant epilepsy (PRE) patients, 19 healthy controls, and 19 MRI-negative patients were included. From Bonn, 85 FCD Type II were included, of which 68 passed preprocessing. MELD had varying performance (sensitivity) in these datasets: CNH FCD-PRE (54 %); Bonn (68 %); MRI-negative (44 %). In multivariate regression, FCD Type IIB pathology predicted higher chance of MELD automated lesion detection. All four patients who underwent resection/ablation of MELD-identified clusters achieved Engel I outcome.</div></div><div><h3>Significance</h3><div>We validate the performance of MELD automated, interpretable FCD classifier in a diverse pediatric cohort with FCD-PRE. We also demonstrate the classifier has relatively good performance in an independent FCD Type II cohort with pediatric-onset epilepsy, as well as simulated real-world value in a pediatric population with MRI-negative PRE.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 64-70"},"PeriodicalIF":2.7,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378479","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}
In the pre-surgical evaluation of people with focal epilepsy and a normal MRI, Morphometric Analysis Program v2018 (MAP18) aids in detecting visually inconspicuous focal cortical dysplasia (FCD). We investigated the impact of MRI scans with reduced signal-to-noise ratio (SNR) and spatial resolution (SR) on FCD detection by MAP18, aiming to improve the chances of achieving seizure freedom through epilepsy surgery.
Methods
Thirty MRI scans with the identified lesion using MAP18 radiologically confirmed as FCD by a neuroradiologist, were retrospective analysed. SNR and SR were artificially reduced in ten steps, and their impact on MAP18 outcomes was assessed using multilevel analysis.
Results
There was a significant effect after reducing SR and SNR for z-score and volume of the FCD cluster, the total number of detected clusters, and volume of these clusters. After SNR reduction, there was also a significant effect for z-score of the total number of detected clusters. FCD became undetectable by MAP18 after six steps of SR reduction (voxel size 2.8 × 2.8 × 2.8 mm³) and after two steps of SNR reduction.
Conclusions
This exploratory study suggests that reduced SR and SNR negatively affect FCD detection with MRI post-processing (MAP18). The MAP18 evaluator should screen MRI quality before post-processing, particularly for scans with significant visual noise or voxel sizes of 2.8 × 2.8 × 2.8 mm³ and upwards, as repeating a low-quality MRI scan is less burdensome than the adverse effects of continued seizures due to failure to detect FCD.
{"title":"MRI-quality and morphometric MRI analysis to identify focal cortical dysplasia: An exploratory study","authors":"E.N. Zuidhoek , J.N.P. Zwemmer , G.H. Visser , JW. Dankbaar , G. Widman","doi":"10.1016/j.seizure.2024.09.025","DOIUrl":"10.1016/j.seizure.2024.09.025","url":null,"abstract":"<div><h3>Background</h3><div>In the pre-surgical evaluation of people with focal epilepsy and a normal MRI, Morphometric Analysis Program v2018 (MAP18) aids in detecting visually inconspicuous focal cortical dysplasia (FCD). We investigated the impact of MRI scans with reduced signal-to-noise ratio (SNR) and spatial resolution (SR) on FCD detection by MAP18, aiming to improve the chances of achieving seizure freedom through epilepsy surgery.</div></div><div><h3>Methods</h3><div>Thirty MRI scans with the identified lesion using MAP18 radiologically confirmed as FCD by a neuroradiologist, were retrospective analysed. SNR and SR were artificially reduced in ten steps, and their impact on MAP18 outcomes was assessed using multilevel analysis.</div></div><div><h3>Results</h3><div>There was a significant effect after reducing SR and SNR for z-score and volume of the FCD cluster, the total number of detected clusters, and volume of these clusters. After SNR reduction, there was also a significant effect for z-score of the total number of detected clusters. FCD became undetectable by MAP18 after six steps of SR reduction (voxel size 2.8 × 2.8 × 2.8 mm³) and after two steps of SNR reduction.</div></div><div><h3>Conclusions</h3><div>This exploratory study suggests that reduced SR and SNR negatively affect FCD detection with MRI post-processing (MAP18). The MAP18 evaluator should screen MRI quality before post-processing, particularly for scans with significant visual noise or voxel sizes of 2.8 × 2.8 × 2.8 mm³ and upwards, as repeating a low-quality MRI scan is less burdensome than the adverse effects of continued seizures due to failure to detect FCD.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"123 ","pages":"Pages 37-42"},"PeriodicalIF":2.7,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511660","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}
This study is designed to estimate the epidemiology of epilepsy in Kazakhstan, using a large-scale administrative health database during 2014–2020.
Methods
Using the Unified National Electronic Health System of Kazakhstan over a seven-year span, we explored incidence and prevalence rates, disability-adjusted life years (DALY), and all-cause mortality. Regression models using Cox proportional hazards were used to analyze the sociodemographic, mental, behavioral, and neurological factors affecting survival. Overall analyses were performed using STATA (V.16).
Results
The total cohort comprised of 82,907 patients, with a significant increase in the incidence of epilepsy from 26.15 in 2014 to 88.80 in 2020 per 100,000 people. Similar trends were observed in the prevalence rates, which tripled from 26.06 in 2014 to 73.10 in 2020. While mortality rates fluctuated, the elderly and children had the greatest rates of 9.97 and 2.98 per 1000 person-years respectively. DALYs revealed a substantial disease burden, with 153,532 DALYs (824.5 per 100,000) being lost during the study period. A few comorbidities, such as cerebral palsy (adjusted hazard ratio (aHR) 2.23) and central nervous system atrophy (aHR, 27.79), markedly elevated all-cause mortality. Furthermore, extrapyramidal and movement disorders (aHR 2.16, p = 0.06) and demyelinating diseases of the central nervous system (aHR 6.36, p = 0.06) showed a trend toward increased mortality risk.
Conclusion
To the best of our knowledge, this is the first study from Central Asia exploring a large epilepsy cohort. The findings highlight the need for targeted interventions to address the growing burden of epilepsy, particularly among children, male sex, and those with neurological comorbities.
{"title":"Epilepsy trends in Kazakhstan: A retrospective longitudinal study using data from unified national electronic health system 2014–2020","authors":"Ruslan Akhmedullin , Bermet Kozhobekova , Arnur Gusmanov , Temirgali Aimyshev , Zhasulan Utebekov , Gaziz Kyrgyzbay , Azat Shpekov , Abduzhappar Gaipov","doi":"10.1016/j.seizure.2024.09.022","DOIUrl":"10.1016/j.seizure.2024.09.022","url":null,"abstract":"<div><h3>Objective</h3><div>This study is designed to estimate the epidemiology of epilepsy in Kazakhstan, using a large-scale administrative health database during 2014–2020.</div></div><div><h3>Methods</h3><div>Using the Unified National Electronic Health System of Kazakhstan over a seven-year span, we explored incidence and prevalence rates, disability-adjusted life years (DALY), and all-cause mortality. Regression models using Cox proportional hazards were used to analyze the sociodemographic, mental, behavioral, and neurological factors affecting survival. Overall analyses were performed using STATA (V.16).</div></div><div><h3>Results</h3><div>The total cohort comprised of 82,907 patients, with a significant increase in the incidence of epilepsy from 26.15 in 2014 to 88.80 in 2020 per 100,000 people. Similar trends were observed in the prevalence rates, which tripled from 26.06 in 2014 to 73.10 in 2020. While mortality rates fluctuated, the elderly and children had the greatest rates of 9.97 and 2.98 per 1000 person-years respectively. DALYs revealed a substantial disease burden, with 153,532 DALYs (824.5 per 100,000) being lost during the study period. A few comorbidities, such as cerebral palsy (adjusted hazard ratio (aHR) 2.23) and central nervous system atrophy (aHR, 27.79), markedly elevated all-cause mortality. Furthermore, extrapyramidal and movement disorders (aHR 2.16, <em>p</em> = 0.06) and demyelinating diseases of the central nervous system (aHR 6.36, <em>p</em> = 0.06) showed a trend toward increased mortality risk.</div></div><div><h3>Conclusion</h3><div>To the best of our knowledge, this is the first study from Central Asia exploring a large epilepsy cohort. The findings highlight the need for targeted interventions to address the growing burden of epilepsy, particularly among children, male sex, and those with neurological comorbities.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 58-63"},"PeriodicalIF":2.7,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378480","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}
Pub Date : 2024-09-29DOI: 10.1016/j.seizure.2024.09.017
Ahmed Yassin , Leen Al-Kraimeen , Aref Qarqash , Hassan AbuShukair , Obada Ababneh , Salma Al-Aomar , Mohammad Abu-Rub , Khalid Alsherbini
<div><h3>Purpose</h3><div>Anterior nucleus of the thalamus (ANT) is the only deep brain stimulation (DBS) target that is approved by the FDA for treatment of drug-resistant epilepsy (DRE). Hippocampus (HC) and centromedian nucleus (CMN) have been reported as potential DBS targets for DRE. This study aimed to assess the effectiveness and predictors of response among DRE patients treated with DBS in general and among ANT, HC and CMN DBS-targets.</div></div><div><h3>Methods</h3><div>A systematic search was executed on PubMed, SCOPUS and the Cochrane Central Register of Controlled Trials (CENTRAL) electronic databases between Jan 1, 2000 and June 29, 2020. Patients with DRE who underwent DBS treatment with at least three months of follow-up were included. Individual patient data (IPD) meta-analysis was conducted on DBS studies with available IPD. Response was defined as ≥50 % reduction in seizures frequency. Responders group was compared with non-responders group in terms of demographics, epilepsy/seizure characteristics, MRI findings, and DBS targets and duration of use. Subsequently, predictors of response to different DBS targets were investigated.</div></div><div><h3>Results</h3><div>Thirty-nine studies with a total of 296 patients (ANT: 69 %, HC: 11 %, CMN: 21 %) were included. The responders group constituted of 209 patients (70.6 %). The response was significantly higher in patients with generalized seizures compared to those with focal seizures (93.2% vs 63.9 %; <em>p</em> < 0.001). Response was significantly higher with CMN (83.9 %) and HC (77.4 %) compared with ANT (65.5 %) as DBS targets (<em>p</em> = 0.014). Response was also significantly associated with longer duration of DBS use (<em>p</em> = 0.008). The responder rate was higher among the patients with lesional MRIs (76.7 %) than those with non-lesional MRIs (66.7 %), but with no statistically significant difference (<em>p</em> = 0.134). Age, gender, epilepsy etiology, onset zone of focal seizures, and previous use of VNS had no significant differences between the responders and non-responders. A binary logistic regression including the seizure type, MRI findings, DBS targets, and DBS duration showed, after controlling for confounders, that the duration of DBS use was the only significant predictor of response (adjusted OR 1.061; 95 % CI 1.019–1.106; <em>p</em> = 0.005). Regarding DBS targets, the response rate in patients with symptomatic etiology was significantly higher with HC or CMN targets than the ANT (<em>p</em> = 0.003). In patients with non-lesional MRI, response rate was significantly higher with the CMN target compared to the other two targets (<em>p</em> = 0.008).</div></div><div><h3>Conclusion</h3><div>DBS proves to be effective in DRE, with progressive success upon longer treatment and possibility of improving quality of life. In addition to focal seizures, DBS has potential for treating generalized seizures as well. While the ANT stands as the most utilized and only
目的 丘脑前核(ANT)是美国食品及药物管理局(FDA)批准用于治疗耐药性癫痫(DRE)的唯一脑深部刺激(DBS)靶点。有报道称海马(HC)和中央核(CMN)是治疗耐药癫痫的潜在脑深部刺激靶点。本研究旨在评估接受 DBS 治疗的一般 DRE 患者以及 ANT、HC 和 CMN DBS 靶点患者的疗效和反应预测因素。方法在 2000 年 1 月 1 日至 2020 年 6 月 29 日期间,在 PubMed、SCOPUS 和 Cochrane Central Register of Controlled Trials (CENTRAL) 电子数据库中进行了系统检索。研究纳入了接受 DBS 治疗且随访至少三个月的 DRE 患者。对具有可用 IPD 的 DBS 研究进行了患者个体数据 (IPD) meta 分析。癫痫发作频率减少≥50%即为应答。将有反应组与无反应组在人口统计学、癫痫/发作特征、磁共振成像结果、DBS靶点和使用时间等方面进行比较。结果39项研究共纳入了296名患者(ANT:69%;HC:11%;CMN:21%)。有反应的患者组有 209 人(70.6%)。全身性癫痫发作患者的应答率明显高于局灶性癫痫发作患者(93.2% vs 63.9%;P < 0.001)。以 CMN(83.9%)和 HC(77.4%)为 DBS 靶点的反应明显高于以 ANT(65.5%)为靶点的反应(p = 0.014)。反应与使用 DBS 的时间长短也有明显关系(p = 0.008)。病变 MRI 患者的应答率(76.7%)高于非病变 MRI 患者(66.7%),但差异无统计学意义(p = 0.134)。有反应者和无反应者在年龄、性别、癫痫病因、局灶性癫痫发作的起始区以及既往使用过 VNS 等方面均无显著差异。包括癫痫发作类型、磁共振成像结果、DBS靶点和DBS持续时间在内的二元逻辑回归显示,在控制了混杂因素后,DBS持续时间是唯一能显著预测反应的因素(调整后OR 1.061; 95 % CI 1.019-1.106; p = 0.005)。关于 DBS 靶点,有症状病因的患者使用 HC 或 CMN 靶点的应答率明显高于 ANT 靶点(p = 0.003)。在非病变 MRI 患者中,CMN 靶点的反应率明显高于其他两个靶点(p = 0.008)。除局灶性癫痫发作外,DBS 还具有治疗全身性癫痫发作的潜力。虽然 ANT 是目前最常用且唯一获准用于 DRE 的 DBS 靶点,但 CMN 和 HC 也是具有较高癫痫控制潜力的替代靶点。以 HC 或 CMN 为靶点时,症状性病因患者的癫痫发作明显减少。研究显示,CMN-DBS 在治疗非lesional MRI 患者方面效果明显。尽管ANT在研究中很突出,但我们的研究结果表明,CMN和HC的治疗效果很好,这强调了今后需要进行更大规模的比较临床试验,以更好地了解不同DBS靶点的疗效。
{"title":"Deep brain stimulation targets in drug-resistant epilepsy: Systematic review and meta-analysis of effectiveness and predictors of response","authors":"Ahmed Yassin , Leen Al-Kraimeen , Aref Qarqash , Hassan AbuShukair , Obada Ababneh , Salma Al-Aomar , Mohammad Abu-Rub , Khalid Alsherbini","doi":"10.1016/j.seizure.2024.09.017","DOIUrl":"10.1016/j.seizure.2024.09.017","url":null,"abstract":"<div><h3>Purpose</h3><div>Anterior nucleus of the thalamus (ANT) is the only deep brain stimulation (DBS) target that is approved by the FDA for treatment of drug-resistant epilepsy (DRE). Hippocampus (HC) and centromedian nucleus (CMN) have been reported as potential DBS targets for DRE. This study aimed to assess the effectiveness and predictors of response among DRE patients treated with DBS in general and among ANT, HC and CMN DBS-targets.</div></div><div><h3>Methods</h3><div>A systematic search was executed on PubMed, SCOPUS and the Cochrane Central Register of Controlled Trials (CENTRAL) electronic databases between Jan 1, 2000 and June 29, 2020. Patients with DRE who underwent DBS treatment with at least three months of follow-up were included. Individual patient data (IPD) meta-analysis was conducted on DBS studies with available IPD. Response was defined as ≥50 % reduction in seizures frequency. Responders group was compared with non-responders group in terms of demographics, epilepsy/seizure characteristics, MRI findings, and DBS targets and duration of use. Subsequently, predictors of response to different DBS targets were investigated.</div></div><div><h3>Results</h3><div>Thirty-nine studies with a total of 296 patients (ANT: 69 %, HC: 11 %, CMN: 21 %) were included. The responders group constituted of 209 patients (70.6 %). The response was significantly higher in patients with generalized seizures compared to those with focal seizures (93.2% vs 63.9 %; <em>p</em> < 0.001). Response was significantly higher with CMN (83.9 %) and HC (77.4 %) compared with ANT (65.5 %) as DBS targets (<em>p</em> = 0.014). Response was also significantly associated with longer duration of DBS use (<em>p</em> = 0.008). The responder rate was higher among the patients with lesional MRIs (76.7 %) than those with non-lesional MRIs (66.7 %), but with no statistically significant difference (<em>p</em> = 0.134). Age, gender, epilepsy etiology, onset zone of focal seizures, and previous use of VNS had no significant differences between the responders and non-responders. A binary logistic regression including the seizure type, MRI findings, DBS targets, and DBS duration showed, after controlling for confounders, that the duration of DBS use was the only significant predictor of response (adjusted OR 1.061; 95 % CI 1.019–1.106; <em>p</em> = 0.005). Regarding DBS targets, the response rate in patients with symptomatic etiology was significantly higher with HC or CMN targets than the ANT (<em>p</em> = 0.003). In patients with non-lesional MRI, response rate was significantly higher with the CMN target compared to the other two targets (<em>p</em> = 0.008).</div></div><div><h3>Conclusion</h3><div>DBS proves to be effective in DRE, with progressive success upon longer treatment and possibility of improving quality of life. In addition to focal seizures, DBS has potential for treating generalized seizures as well. While the ANT stands as the most utilized and only","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 144-152"},"PeriodicalIF":2.7,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142445746","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}
Pub Date : 2024-09-27DOI: 10.1016/j.seizure.2024.09.016
Naz Karadag , Espen Hagen , Alexey A. Shadrin , Dennis van der Meer , Kevin S. O'Connell , Zillur Rahman , Gleda Kutrolli , Nadine Parker , Shahram Bahrami , Vera Fominykh , Kjell Heuser , Erik Taubøll , Torill Ueland , Nils Eiel Steen , Srdjan Djurovic , Anders M. Dale , Oleksandr Frei , Ole A. Andreassen , Olav B. Smeland
Purpose
Cognitive impairment is prevalent among individuals with epilepsy, and increasing evidence indicates that genetic factors can underlie this relationship. However, the extent to which epilepsy subtypes differ in their genetic relationship with cognitive function, and information about the specific genetic variants involved remain largely unknown.
Methods
We investigated the genetic relationship between epilepsies and general cognitive ability (COG) using complementary statistical tools, including linkage disequilibrium score (LDSC) regression, MiXeR and conjunctional false discovery rate (conjFDR). We analyzed genome-wide association study data on COG (n = 269,867) and common epilepsies (n = 27,559 cases, 42,436 controls), including the broad phenotypes ‘all epilepsy’, focal epilepsies and genetic generalized epilepsies (GGE), as well as specific subtypes. We functionally annotated the identified loci using several biological resources and validated the results in independent samples.
Results
Using MiXeR, COG (11.2k variants) was estimated to be almost four times more polygenic than ‘all epilepsy’, GGE, juvenile myoclonic epilepsy (JME), and childhood absence epilepsy (CAE) (2.5k – 2.9k variants). The other epilepsy phenotypes were insufficiently powered for MiXeR analysis. We quantified extensive genetic overlap between COG and epilepsy types, but with varying negative genetic correlations (-0.23 to -0.04). COG was estimated to share 2.9k variants with both GGE and ‘all epilepsy’, and 2.3k variants with both JME and CAE. Using conjFDR, we identified 66 distinct loci shared between COG and epilepsies, including novel associations for GGE (27), ‘all epilepsy’ (5), JME (5) and CAE (5). The implicated genes were significantly expressed in multiple brain regions. The results were validated in independent samples (COG: p = 3.62 × 10–7; ‘all epilepsy’: p = 2.58 × 10–3).
Conclusion
Our study further dissects the substantial genetic basis shared between epilepsies and COG and identifies novel shared loci. An improved understanding of the genetic relationship between epilepsies and COG may lead to the development of novel comorbidity-targeted epilepsy treatments.
{"title":"Unraveling the shared genetics of common epilepsies and general cognitive ability","authors":"Naz Karadag , Espen Hagen , Alexey A. Shadrin , Dennis van der Meer , Kevin S. O'Connell , Zillur Rahman , Gleda Kutrolli , Nadine Parker , Shahram Bahrami , Vera Fominykh , Kjell Heuser , Erik Taubøll , Torill Ueland , Nils Eiel Steen , Srdjan Djurovic , Anders M. Dale , Oleksandr Frei , Ole A. Andreassen , Olav B. Smeland","doi":"10.1016/j.seizure.2024.09.016","DOIUrl":"10.1016/j.seizure.2024.09.016","url":null,"abstract":"<div><h3>Purpose</h3><div>Cognitive impairment is prevalent among individuals with epilepsy, and increasing evidence indicates that genetic factors can underlie this relationship. However, the extent to which epilepsy subtypes differ in their genetic relationship with cognitive function, and information about the specific genetic variants involved remain largely unknown.</div></div><div><h3>Methods</h3><div>We investigated the genetic relationship between epilepsies and general cognitive ability (COG) using complementary statistical tools, including linkage disequilibrium score (LDSC) regression, MiXeR and conjunctional false discovery rate (conjFDR). We analyzed genome-wide association study data on COG (<em>n</em> = 269,867) and common epilepsies (<em>n</em> = 27,559 cases, 42,436 controls), including the broad phenotypes ‘all epilepsy’, focal epilepsies and genetic generalized epilepsies (GGE), as well as specific subtypes. We functionally annotated the identified loci using several biological resources and validated the results in independent samples.</div></div><div><h3>Results</h3><div>Using MiXeR, COG (11.2k variants) was estimated to be almost four times more polygenic than ‘all epilepsy’, GGE, juvenile myoclonic epilepsy (JME), and childhood absence epilepsy (CAE) (2.5k – 2.9k variants). The other epilepsy phenotypes were insufficiently powered for MiXeR analysis. We quantified extensive genetic overlap between COG and epilepsy types, but with varying negative genetic correlations (-0.23 to -0.04). COG was estimated to share 2.9k variants with both GGE and ‘all epilepsy’, and 2.3k variants with both JME and CAE. Using conjFDR, we identified 66 distinct loci shared between COG and epilepsies, including novel associations for GGE (27), ‘all epilepsy’ (5), JME (5) and CAE (5). The implicated genes were significantly expressed in multiple brain regions. The results were validated in independent samples (COG: <em>p</em> = 3.62 × 10<sup>–7</sup>; ‘all epilepsy’: <em>p</em> = 2.58 × 10<sup>–3</sup>).</div></div><div><h3>Conclusion</h3><div>Our study further dissects the substantial genetic basis shared between epilepsies and COG and identifies novel shared loci. An improved understanding of the genetic relationship between epilepsies and COG may lead to the development of novel comorbidity-targeted epilepsy treatments.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 105-112"},"PeriodicalIF":2.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-27DOI: 10.1016/j.seizure.2024.09.020
Gabriele Vilyte , James Butler , Victoria Ives-Deliperi , Chrisma Pretorius
Purpose
Our understanding of potential differences in seizure semiology among patients with functional seizures (FS), also known as psychogenic non-epileptic seizures (PNES), across socioeconomic contexts is currently limited. By examining the differences in seizure manifestations between different socioeconomic groups, we aim to enhance the understanding of how socioeconomic factors may influence FS presentation. This study aimed to describe FS semiology in patients from a private and public epilepsy monitoring units (EMUs) in Cape Town, South Africa.
Methods
The study included patients with FS confirmed through video-electroencephalography (video-EEG) and without comorbid epilepsy. For this retrospective case-control study, data on seizure semiology was gathered from digital patient records, beginning with the earliest available record for each hospital.
Results
A total of 305 patients from a private hospital and 67 patients from a public hospital were eligible for the study (N = 372). The private hospital tended to report more akinetic and subjective seizure types when compared to the public hospital. Additionally, patients at the public hospital had higher odds of reporting emotional seizure triggers (aOR=2.57, 95% CI [1.03, 6.37]), loss of consciousness or awareness (aOR=2.58, 95% CI [1.07, 6.24]), and rapid post-event recovery (aOR=6.01, 95% CI [2.52, 14.34]). At the same time, they were less likely to report both short (<30 s) (aOR=0.21, 95% CI [0.08, 0.55]) and long (>5 min) seizures (aOR=0.73, 95% CI [0.13, 0.56]), amnesia for the event (aOR=0.19, 95% CI [0.09, 0.43]), ictal aphasia (aOR=0.33, 95% CI [0.14, 0.76]) or falls and drop attacks (aOR=0.43, 95% CI [0.18, 0.996]), when compared to the private hospital patients.
Conclusion
While the seizure manifestations were largely consistent across the two socioeconomic cohorts of patients with FS, some subtle differences were observed and warrant further investigation.
目的:目前,我们对不同社会经济背景下功能性癫痫发作(FS)(又称精神性非癫痫发作(PNES))患者癫痫发作半身像的潜在差异了解有限。通过研究不同社会经济群体间癫痫发作表现的差异,我们旨在加深对社会经济因素如何影响 FS 表现的理解。本研究旨在描述南非开普敦私立和公立癫痫监测机构(EMU)患者的FS半身像:研究对象包括通过视频脑电图(video-EEG)确诊的FS患者,且无合并癫痫。在这项回顾性病例对照研究中,有关癫痫发作半身像的数据来自数字化病历,从每家医院最早的病历开始收集:共有 305 名来自私立医院的患者和 67 名来自公立医院的患者符合研究条件(N = 372)。与公立医院相比,私立医院倾向于报告更多的运动性和主观性癫痫发作类型。此外,公立医院的患者报告情绪性发作诱因(aOR=2.57,95% CI [1.03,6.37])、意识或知觉丧失(aOR=2.58,95% CI [1.07,6.24])和事件后快速恢复(aOR=6.01,95% CI [2.52,14.34])的几率更高。与此同时,与私立医院患者相比,他们较少报告癫痫发作时间短(5 分钟)(aOR=0.73,95% CI [0.13,0.56])、对事件失忆(aOR=0.19,95% CI [0.09,0.43])、发作性失语(aOR=0.33,95% CI [0.14,0.76])或跌倒和跌伤(aOR=0.43,95% CI [0.18,0.996]):虽然两个社会经济组群的 FS 患者的癫痫发作表现基本一致,但也观察到一些微妙的差异,值得进一步研究。
{"title":"Functional seizure semiology and classification in a public and private hospital","authors":"Gabriele Vilyte , James Butler , Victoria Ives-Deliperi , Chrisma Pretorius","doi":"10.1016/j.seizure.2024.09.020","DOIUrl":"10.1016/j.seizure.2024.09.020","url":null,"abstract":"<div><h3>Purpose</h3><div>Our understanding of potential differences in seizure semiology among patients with functional seizures (FS), also known as psychogenic non-epileptic seizures (PNES), across socioeconomic contexts is currently limited. By examining the differences in seizure manifestations between different socioeconomic groups, we aim to enhance the understanding of how socioeconomic factors may influence FS presentation. This study aimed to describe FS semiology in patients from a private and public epilepsy monitoring units (EMUs) in Cape Town, South Africa.</div></div><div><h3>Methods</h3><div>The study included patients with FS confirmed through video-electroencephalography (video-EEG) and without comorbid epilepsy. For this retrospective case-control study, data on seizure semiology was gathered from digital patient records, beginning with the earliest available record for each hospital.</div></div><div><h3>Results</h3><div>A total of 305 patients from a private hospital and 67 patients from a public hospital were eligible for the study (<em>N</em> = 372). The private hospital tended to report more akinetic and subjective seizure types when compared to the public hospital. Additionally, patients at the public hospital had higher odds of reporting emotional seizure triggers (aOR=2.57, 95% CI [1.03, 6.37]), loss of consciousness or awareness (aOR=2.58, 95% CI [1.07, 6.24]), and rapid post-event recovery (aOR=6.01, 95% CI [2.52, 14.34]). At the same time, they were less likely to report both short (<30 s) (aOR=0.21, 95% CI [0.08, 0.55]) and long (>5 min) seizures (aOR=0.73, 95% CI [0.13, 0.56]), amnesia for the event (aOR=0.19, 95% CI [0.09, 0.43]), ictal aphasia (aOR=0.33, 95% CI [0.14, 0.76]) or falls and drop attacks (aOR=0.43, 95% CI [0.18, 0.996]), when compared to the private hospital patients.</div></div><div><h3>Conclusion</h3><div>While the seizure manifestations were largely consistent across the two socioeconomic cohorts of patients with FS, some subtle differences were observed and warrant further investigation.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 71-79"},"PeriodicalIF":2.7,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-25DOI: 10.1016/j.seizure.2024.09.019
Jordana Borges Camargo Diniz , Laís Silva Santana , Marianna Leite , João Lucas Silva Santana , Sarah Isabela Magalhães Costa , Luiz Henrique Martins Castro , João Paulo Mota Telles
Introduction
Interictal epileptiform discharges (IEDs) in electroencephalograms (EEGs) are an important biomarker for epilepsy. Currently, the gold standard for IED detection is the visual analysis performed by experts. However, this process is expert-biased, and time-consuming. Developing fast, accurate, and robust detection methods for IEDs based on EEG may facilitate epilepsy diagnosis. We aim to assess the performance of deep learning (DL) and classic machine learning (ML) algorithms in classifying EEG segments into IED and non-IED categories, as well as distinguishing whether the entire EEG contains IED or not.
Methods
We systematically searched PubMed, Embase, and Web of Science following PRISMA guidelines. We excluded studies that only performed the detection of IEDs instead of binary segment classification. Risk of Bias was evaluated with Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2). Meta-analysis with the overall area under the Summary Receiver Operating Characteristic (SROC), sensitivity, and specificity as effect measures, was performed with R software.
Results
A total of 23 studies, comprising 3,629 patients, were eligible for synthesis. Eighteen models performed discharge-level classification, and 6 whole-EEG classification. For the IED-level classification, 3 models were validated in an external dataset with more than 50 patients and achieved a sensitivity of 84.9 % (95 % CI: 82.3–87.2) and a specificity of 68.7 % (95 % CI: 7.9–98.2). Five studies reported model performance using both internal validation (cross-validation) and external datasets. The meta-analysis revealed higher performance for internal validation, with 90.4 % sensitivity and 99.6 % specificity, compared to external validation, which showed 78.1 % sensitivity and 80.1 % specificity.
Conclusion
Meta-analysis showed higher performance for models validated with resampling methods compared to those using external datasets. Only a minority of models use more robust validation techniques, which often leads to overfitting.
简介脑电图(EEG)中的发作间期癫痫样放电(IED)是癫痫的重要生物标志物。目前,IED 检测的黄金标准是由专家进行视觉分析。然而,这一过程存在专家偏见,而且耗费时间。开发基于脑电图的快速、准确、稳健的 IED 检测方法可能有助于癫痫诊断。我们旨在评估深度学习(DL)和经典机器学习(ML)算法在将脑电图片段分为 IED 和非 IED 类别以及区分整个脑电图是否包含 IED 方面的性能:我们按照 PRISMA 指南系统地检索了 PubMed、Embase 和 Web of Science。我们排除了只进行 IED 检测而非二元节段分类的研究。通过诊断准确性研究质量评估(QUADAS-2)评估了偏倚风险。用 R 软件进行了以受者工作特征汇总(SROC)下的总面积、灵敏度和特异性作为效果测量指标的 Meta 分析:共有 23 项研究(包括 3629 名患者)符合综合分析的条件。18个模型进行了出院级别分类,6个模型进行了整个EEG分类。对于 IED 级别分类,3 个模型在一个包含 50 多名患者的外部数据集中进行了验证,灵敏度达到 84.9%(95% CI:82.3-87.2),特异度达到 68.7%(95% CI:7.9-98.2)。五项研究报告了使用内部验证(交叉验证)和外部数据集的模型性能。荟萃分析显示,内部验证的灵敏度为 90.4%,特异性为 99.6%,而外部验证的灵敏度为 78.1%,特异性为 80.1%:元分析表明,与使用外部数据集的模型相比,使用重采样方法验证的模型性能更高。只有少数模型使用了更稳健的验证技术,这往往会导致过度拟合。
{"title":"Advancing epilepsy diagnosis: A meta-analysis of artificial intelligence approaches for interictal epileptiform discharge detection","authors":"Jordana Borges Camargo Diniz , Laís Silva Santana , Marianna Leite , João Lucas Silva Santana , Sarah Isabela Magalhães Costa , Luiz Henrique Martins Castro , João Paulo Mota Telles","doi":"10.1016/j.seizure.2024.09.019","DOIUrl":"10.1016/j.seizure.2024.09.019","url":null,"abstract":"<div><h3>Introduction</h3><div>Interictal epileptiform discharges (IEDs) in electroencephalograms (EEGs) are an important biomarker for epilepsy. Currently, the gold standard for IED detection is the visual analysis performed by experts. However, this process is expert-biased, and time-consuming. Developing fast, accurate, and robust detection methods for IEDs based on EEG may facilitate epilepsy diagnosis. We aim to assess the performance of deep learning (DL) and classic machine learning (ML) algorithms in classifying EEG segments into IED and non-IED categories, as well as distinguishing whether the entire EEG contains IED or not.</div></div><div><h3>Methods</h3><div>We systematically searched PubMed, Embase, and Web of Science following PRISMA guidelines. We excluded studies that only performed the detection of IEDs instead of binary segment classification. Risk of Bias was evaluated with Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2). Meta-analysis with the overall area under the Summary Receiver Operating Characteristic (SROC), sensitivity, and specificity as effect measures, was performed with R software.</div></div><div><h3>Results</h3><div>A total of 23 studies, comprising 3,629 patients, were eligible for synthesis. Eighteen models performed discharge-level classification, and 6 whole-EEG classification. For the IED-level classification, 3 models were validated in an external dataset with more than 50 patients and achieved a sensitivity of 84.9 % (95 % CI: 82.3–87.2) and a specificity of 68.7 % (95 % CI: 7.9–98.2). Five studies reported model performance using both internal validation (cross-validation) and external datasets. The meta-analysis revealed higher performance for internal validation, with 90.4 % sensitivity and 99.6 % specificity, compared to external validation, which showed 78.1 % sensitivity and 80.1 % specificity.</div></div><div><h3>Conclusion</h3><div>Meta-analysis showed higher performance for models validated with resampling methods compared to those using external datasets. Only a minority of models use more robust validation techniques, which often leads to overfitting.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 80-86"},"PeriodicalIF":2.7,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142382167","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}
Pub Date : 2024-09-21DOI: 10.1016/j.seizure.2024.09.015
Benjamin Cretin
Alzheimer's disease (AD) is known to be associated with an increased risk of epilepsy, which is not exclusively related to the late stage of the disease - when a major cognitive impairment is observed, previously known as the dementia stage - but also to its prodromal stage (mild cognitive impairment). Moreover, published case reports and cohorts have shown that epilepsy may occur even earlier, at the preclinical stage of AD: Epileptic seizures may therefore be the sole objective manifestation of the disease. Such a situation is called the epileptic variant of AD (evAD). EvAD is one of the etiologies of late-onset epilepsy, which means that it carries a risk of later progression to dementia and that it can only be diagnosed by assessing amyloid and tau biomarkers. However, evAD is a window of therapeutic opportunity that is probably optimal for preventing, through antiseizure medication treatment, the accelerated cognitive decline associated with AD-related brain hyperexcitability (manifested by seizures or interictal epileptiform activities).
众所周知,阿尔茨海默病(AD)与癫痫风险的增加有关,而癫痫风险的增加不仅与疾病的晚期有关,即出现严重认知障碍(以前称为痴呆阶段)时,也与疾病的前驱阶段(轻度认知障碍)有关。此外,已发表的病例报告和队列研究表明,癫痫可能会更早出现,即在 AD 的临床前阶段:因此,癫痫发作可能是这种疾病的唯一客观表现。这种情况被称为 AD 的癫痫变异型(evAD)。evAD是晚发性癫痫的病因之一,这意味着它具有日后发展为痴呆症的风险,而且只能通过评估淀粉样蛋白和tau生物标记物来诊断。然而,evAD 是一个治疗机会之窗,它可能是通过抗癫痫药物治疗预防与 AD 相关的大脑过度兴奋(表现为癫痫发作或发作间期癫痫样活动)引起的认知能力加速衰退的最佳时机。
{"title":"Epileptic variant in the spectrum of Alzheimer's disease - practical implications.","authors":"Benjamin Cretin","doi":"10.1016/j.seizure.2024.09.015","DOIUrl":"https://doi.org/10.1016/j.seizure.2024.09.015","url":null,"abstract":"<p><p>Alzheimer's disease (AD) is known to be associated with an increased risk of epilepsy, which is not exclusively related to the late stage of the disease - when a major cognitive impairment is observed, previously known as the dementia stage - but also to its prodromal stage (mild cognitive impairment). Moreover, published case reports and cohorts have shown that epilepsy may occur even earlier, at the preclinical stage of AD: Epileptic seizures may therefore be the sole objective manifestation of the disease. Such a situation is called the epileptic variant of AD (evAD). EvAD is one of the etiologies of late-onset epilepsy, which means that it carries a risk of later progression to dementia and that it can only be diagnosed by assessing amyloid and tau biomarkers. However, evAD is a window of therapeutic opportunity that is probably optimal for preventing, through antiseizure medication treatment, the accelerated cognitive decline associated with AD-related brain hyperexcitability (manifested by seizures or interictal epileptiform activities).</p>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2024-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142331055","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}
Pub Date : 2024-09-20DOI: 10.1016/j.seizure.2024.09.011
See Wai Chan , Angela Chun , Linh Nguyen , Beth Bubolz , Anne E. Anderson , Yi-Chen Lai
Objective
We sought to examine the effects of acute seizures and respiratory derangement on the cardiac electrical properties reflected on the electrocardiogram (ECG); and to analyze their potential interactions with a diagnosis of epilepsy in children.
Methods
Emergency center (EC) visits with seizure or epilepsy diagnostic codes from 1/2011–12/2013 were included if they had ECG within 24 h of EC visit. Patients were excluded if they had pre-existing cardiac conditions, ion channelopathy, or were taking specific cardiac medications. Control subjects were 1:1 age and gender matched. Abnormal ECG was defined as changes in rhythm, PR, QRS, or corrected QT intervals; QRS axis or morphology; ST segment; or T wave morphology from normal standards. We identified independent associations between clinical factors and abnormal ECG findings using multivariable logistic regression modeling.
Results
Ninety-five children with epilepsy presented to the EC with seizures, respiratory distress, and other concerns. Three hundred children without epilepsy presented with seizures. There was an increased prevalence of minor ECG abnormalities in children with epilepsy (49 %) compared to the control subjects (29 %) and those without epilepsy (36 %). Epilepsy (OR: 1.61, 95 %CI: 1.01–2.6), need for supplemental oxygen (OR 3.06, 95 % CI: 1.45–6.44) or mechanical ventilation (OR: 2.5, 95 % CI: 1.03–6.05) were independently associated with minor ECG abnormalities. Secondary analyses further demonstrated an independent association between level of respiratory support and ECG abnormalities only in the epilepsy group.
Significance
Independent association of increased respiratory support with minor ECG abnormalities suggests a potential respiratory influence on the hearts of children with epilepsy.
{"title":"Associations between epilepsy, respiratory impairment, and minor ECG abnormalities in children","authors":"See Wai Chan , Angela Chun , Linh Nguyen , Beth Bubolz , Anne E. Anderson , Yi-Chen Lai","doi":"10.1016/j.seizure.2024.09.011","DOIUrl":"10.1016/j.seizure.2024.09.011","url":null,"abstract":"<div><h3>Objective</h3><div>We sought to examine the effects of acute seizures and respiratory derangement on the cardiac electrical properties reflected on the electrocardiogram (ECG); and to analyze their potential interactions with a diagnosis of epilepsy in children.</div></div><div><h3>Methods</h3><div>Emergency center (EC) visits with seizure or epilepsy diagnostic codes from 1/2011–12/2013 were included if they had ECG within 24 h of EC visit. Patients were excluded if they had pre-existing cardiac conditions, ion channelopathy, or were taking specific cardiac medications. Control subjects were 1:1 age and gender matched. Abnormal ECG was defined as changes in rhythm, PR, QRS, or corrected QT intervals; QRS axis or morphology; ST segment; or T wave morphology from normal standards. We identified independent associations between clinical factors and abnormal ECG findings using multivariable logistic regression modeling.</div></div><div><h3>Results</h3><div>Ninety-five children with epilepsy presented to the EC with seizures, respiratory distress, and other concerns. Three hundred children without epilepsy presented with seizures. There was an increased prevalence of minor ECG abnormalities in children with epilepsy (49 %) compared to the control subjects (29 %) and those without epilepsy (36 %). Epilepsy (OR: 1.61, 95 %CI: 1.01–2.6), need for supplemental oxygen (OR 3.06, 95 % CI: 1.45–6.44) or mechanical ventilation (OR: 2.5, 95 % CI: 1.03–6.05) were independently associated with minor ECG abnormalities. Secondary analyses further demonstrated an independent association between level of respiratory support and ECG abnormalities only in the epilepsy group.</div></div><div><h3>Significance</h3><div>Independent association of increased respiratory support with minor ECG abnormalities suggests a potential respiratory influence on the hearts of children with epilepsy.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 39-44"},"PeriodicalIF":2.7,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142320367","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}
Pub Date : 2024-09-19DOI: 10.1016/j.seizure.2024.09.013
Suyi Ooi , Chris Tailby , Naoto Nagino , Patrick W. Carney , Graeme D. Jackson , David N. Vaughan
Objectives
To assess the feasibility of using a seizure recurrence prediction tool in a First Seizure Clinic, considering (1) the accuracy of initial clinical diagnoses and (2) performance of automated computational models in predicting seizure recurrence after first unprovoked seizure (FUS).
Methods
To assess diagnostic accuracy, we analysed all sustained and revised diagnoses in patients seen at a First Seizure Clinic over 5 years with 6+ months follow-up (‘accuracy cohort’, n = 487).
To estimate prediction of 12-month seizure recurrence after FUS, we used a logistic regression of clinical factors on a multicentre FUS cohort (‘prediction cohort’, n = 181), and compared performance to a recently published seizure recurrence model.
Results
Initial diagnosis was sustained over 6+ months follow-up in 69% of patients in the ‘accuracy cohort’. Misdiagnosis occurred in 5%, and determination of unclassified diagnosis in 9%. Progression to epilepsy occurred in 17%, either following FUS or initial acute symptomatic seizure.
Within the ‘prediction cohort’ with FUS, 12-month seizure recurrence rate was 41% (95% CI [33.8%, 48.5%]). Nocturnal seizure, focal seizure semiology and developmental disability were predictive factors. Our model yielded an Area under the Receiver Operating Characteristic curve (AUC) of 0.60 (95% CI [0.59, 0.64]).
Conclusions
High clinical accuracy can be achieved at the initial visit to a First Seizure Clinic. This shows that diagnosis will not limit the application of seizure recurrence prediction tools in this context. However, based on the modest performance of currently available seizure recurrence prediction tools using clinical factors, we conclude that data beyond clinical factors alone will be needed to improve predictive performance.
{"title":"Prediction begins with diagnosis: Estimating seizure recurrence risk in the First Seizure Clinic","authors":"Suyi Ooi , Chris Tailby , Naoto Nagino , Patrick W. Carney , Graeme D. Jackson , David N. Vaughan","doi":"10.1016/j.seizure.2024.09.013","DOIUrl":"10.1016/j.seizure.2024.09.013","url":null,"abstract":"<div><h3>Objectives</h3><div>To assess the feasibility of using a seizure recurrence prediction tool in a First Seizure Clinic, considering (1) the accuracy of initial clinical diagnoses and (2) performance of automated computational models in predicting seizure recurrence after first unprovoked seizure (FUS).</div></div><div><h3>Methods</h3><div>To assess diagnostic accuracy, we analysed all sustained and revised diagnoses in patients seen at a First Seizure Clinic over 5 years with 6+ months follow-up (‘accuracy cohort’, n = 487).</div><div>To estimate prediction of 12-month seizure recurrence after FUS, we used a logistic regression of clinical factors on a multicentre FUS cohort (‘prediction cohort’, n = 181), and compared performance to a recently published seizure recurrence model.</div></div><div><h3>Results</h3><div>Initial diagnosis was sustained over 6+ months follow-up in 69% of patients in the ‘accuracy cohort’. Misdiagnosis occurred in 5%, and determination of unclassified diagnosis in 9%. Progression to epilepsy occurred in 17%, either following FUS or initial acute symptomatic seizure.</div><div>Within the ‘prediction cohort’ with FUS, 12-month seizure recurrence rate was 41% (95% CI [33.8%, 48.5%]). Nocturnal seizure, focal seizure semiology and developmental disability were predictive factors. Our model yielded an Area under the Receiver Operating Characteristic curve (AUC) of 0.60 (95% CI [0.59, 0.64]).</div></div><div><h3>Conclusions</h3><div>High clinical accuracy can be achieved at the initial visit to a First Seizure Clinic. This shows that diagnosis will not limit the application of seizure recurrence prediction tools in this context. However, based on the modest performance of currently available seizure recurrence prediction tools using clinical factors, we conclude that data beyond clinical factors alone will be needed to improve predictive performance.</div></div>","PeriodicalId":49552,"journal":{"name":"Seizure-European Journal of Epilepsy","volume":"122 ","pages":"Pages 87-95"},"PeriodicalIF":2.7,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}