febrile seizure

热性惊厥
  • 文章类型: Journal Article
    背景:高热惊厥是影响6个月至5岁儿童的最常见的惊厥类型。然而,由于症状的模糊性,高热惊厥很难识别,这可能导致不正确的诊断和治疗。因此,这项研究探讨了高热惊厥相关的不确定性,知识,和母亲之间的焦虑。
    方法:横断面设计包括190名约旦母亲,大约一半的儿童有高热癫痫发作史。工具包括国家特质焦虑量表(STAI),父母不确定感量表(PPUS),和父母的知识,态度,关注,和实践(KACP)。
    结果:母亲对高热惊厥的认识很差,受影响的母亲得分明显高于未受影响的母亲。受影响母亲的状态和特质焦虑和不确定性较高。相关性显示不确定性与焦虑呈正相关。回归分析表明,特质焦虑和知识可以预测患病母亲的不确定性,而只有特质焦虑可以预测未受影响的母亲的不确定性。
    结论:母亲,尤其是那些受影响的孩子,展示了低热惊厥知识,高度焦虑,和不确定性。缺乏知识可能导致高热惊厥管理无效。这项研究确定了特质焦虑和知识是不确定性的预测因素,强调需要有针对性的干预措施。
    结论:医疗保健专业人员可以设计针对高热惊厥教育和减少焦虑的干预措施。决策者应把重点放在提高认识和为有效干预分配资源上,可能改善儿童高热惊厥结局。这项研究强调了解决孕产妇知识差距的重要性,焦虑,以及与高热惊厥有关的不确定性,建议需要为母亲提供全面的教育计划和支持策略。
    BACKGROUND: Febrile seizures are the most common type of convulsions affecting children aged six months to five years. However, febrile seizures can be difficult to identify due to the vague nature of the symptoms, which can lead to incorrect diagnosis and treatment. Thus, this study explores febrile seizure-related uncertainty, knowledge, and anxiety among mothers.
    METHODS: A cross-sectional design included 190 Jordanian mothers, about half with children having febrile seizure history. Instruments included the State-Trait Anxiety Inventory (STAI), Parental Perception of Uncertainty Scale (PPUS), and Parental Knowledge, Attitudes, Concerns, and Practices (KACP).
    RESULTS: Mothers exhibited poor febrile seizure knowledge, with affected mothers significantly scoring higher than unaffected. Affected mothers had higher state and trait anxiety and uncertainty. Correlations showed uncertainty positively correlated with anxiety. Regression analysis showed that trait anxiety and knowledge predicted uncertainty in affected mothers, while only trait anxiety predicted uncertainty in unaffected mothers.
    CONCLUSIONS: Mothers, especially those with affected children, demonstrated low febrile seizure knowledge, high anxiety, and uncertainty. Lack of knowledge may contribute to ineffective febrile seizure management. The study identifies trait anxiety and knowledge as predictors of uncertainty, emphasizing the need for tailored interventions.
    CONCLUSIONS: Healthcare professionals can design interventions targeting febrile seizure education and anxiety reduction. Policymakers should focus on raising awareness and allocating resources for effective interventions, potentially improving children with febrile seizure outcomes. This study underscores the importance of addressing maternal knowledge gaps, anxiety, and uncertainty related to febrile seizures, suggesting the need for comprehensive educational programs and support strategies for mothers.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:尽管呼吸道症状是2019年冠状病毒病(COVID-19)最突出的表现,严重急性呼吸道综合征冠状病毒2(SARS-CoV-2),尤其是omicron变体,可能导致神经系统表现,如癫痫发作。尚不清楚该病毒的特定变体是否比其他变体更增加癫痫发作的风险。
    方法:这是一项回顾性的多中心研究,研究对象是在马德里的5个儿科急诊科就诊的COVID-19儿科(零至16岁)患者,西班牙,2020年3月至2022年7月。人口统计学分析,病史,并进行了癫痫发作特征。获得的数据与马德里社区不同SARS-CoV-2菌株的发病率相关。
    结果:共记录了2411次癫痫发作(感染性和非感染性),其中35人(1.4%)为SARS-CoV-2阳性。在这35名患者中,18例(51.4%)报告了既往癫痫发作史。当omicron变体最普遍时,病例百分比最高(28[80%]对omicron变体之前的7[20%])。典型的高热惊厥占病例的52.9%。超过一半(57.1%)的病例不需要治疗。
    结论:在omicron变体出现期间,COVID-19相关的癫痫发作数量有所增加。这些发现强调了对发热性和发热性癫痫患者进行SARS-CoV-2筛查的必要性,除了其他微生物,生物化学,或者神经影像学检查,取决于患者的年龄和临床表现。
    BACKGROUND: Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others.
    METHODS: This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022. An analysis of demographics, medical history, and seizure characteristics was conducted. The data obtained were correlated with the incidence of the different strains of SARS-CoV-2 in the Community of Madrid.
    RESULTS: A total of 2411 seizures (infectious and noninfectious) were recorded, and 35 of them (1.4%) were positive for SARS-CoV-2. Of those 35 patients, 18 (51.4%) reported a history of previous seizures. The highest percentage of cases occurred when the omicron variant was the most prevalent (28 [80%] vs 7 [20%] before omicron variant). Typical febrile seizures accounted for 52.9% of the cases. No treatment was required in more than half (57.1%) of the cases.
    CONCLUSIONS: during the emergence of the omicron variant, there has been an increase in the number of COVID-19-associated seizures. These findings highlight the need for SARS-CoV-2 screening in patients with febrile and afebrile seizures, in addition to other microbiological, biochemical, or neuroimaging tests, depending on the patient\'s age and clinical presentation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    背景:与流感病毒感染相关的炎症可导致多种神经系统表现。脑炎就是其中之一,主要伴有癫痫发作,根据流行病和以前的医疗条件不同。
    方法:2018年11月至2023年4月期间,所有在图卢兹儿童医院儿科神经科住院的呼吸道样本中出现神经系统症状且流感病毒RNA检测阳性的儿童,进行了回顾性分析。
    结果:在我们中心诊断为流感的1,277名儿童中,131(10.3%)因神经系统特征住院。2020-2021年流感检测阳性为零,与COVID-19大流行有关。在131名患者中,71.6%为5岁以下。其中大多数(80.9%)感染了甲型流感病毒。73.3%的患者以癫痫发作为主。在29%的病例中观察到可能或确诊的脑炎,包括一例急性坏死性脑病.很少有儿童(6.1%)出现急性肌炎。27名患者(20.6%)有明显的神经系统疾病的个人病史。大多数患者(88.5%)表现出快速有利的结果,以他们的神经症状在前2天内消失为标志。1.5%的病例使用抗癫痫药物,并适应16.8%,以发热性癫痫持续状态和脑电图异常为主。
    结论:神经系统特征常与儿童流感感染相关;大多数是短暂的。对长期神经发育结果的影响需要澄清,因为我们的随访有限,特别是在有神经系统疾病的儿童中。
    BACKGROUND: Inflammation related to influenza virus infection can lead to multiple neurological presentations. Encephalitis is one of them, mostly accompanied by seizures, with different profiles depending on the epidemics and previous medical conditions.
    METHODS: All children presenting neurological symptoms and positive for influenza virus RNA detection in a respiratory sample between November 2018 and April 2023, hospitalized in the Department of Paediatric Neurology of Toulouse Children\'s Hospital, were retrospectively analysed.
    RESULTS: Among the 1,277 children diagnosed with influenza in our centre, 131 (10.3 %) were hospitalized for neurological features. The year 2020-2021 was marked by zero incidence of positive influenza tests, associated with the COVID-19 pandemic. Among the 131 patients included, 71.6 % were under 5 years old. Most of them (80.9 %) were infected by influenza A virus. The first neurological symptoms were mainly seizures in 73.3 % of patients. Possible or confirmed encephalitis was observed in 29 % of cases, including one acute necrotizing encephalopathy. Few children (6.1 %) presented with acute myositis. Twenty-seven patients (20.6 %) had a personal history of significant previous neurological disorders. Most patients (88.5 %) displayed a rapid favourable outcome, marked by the disappearance of their neurological symptoms within the first 2 days. Anti-epileptic drugs were introduced in 1.5 % of cases, and adapted in 16.8 %, mainly in patients with febrile status epilepticus and an abnormal EEG.
    CONCLUSIONS: Neurological features were frequently associated with influenza infection in children; most were transient. Effects on long-term neurodevelopmental outcomes need to be clarified as our follow-up was limited, especially in children with pre-existing neurological conditions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    热性惊厥主要发生在幼儿中。各种暴露的影响,包括流感感染和外部环境因素,关于高热惊厥还没有得到很好的研究。在这项研究中,我们阐明了环境温度之间的关系,空气污染物,流感感染,和高热惊厥使用22年全港住院数据。汇总数据与气象记录和空气污染物浓度相匹配。所有类型和类型特异性流感样疾病阳性(ILI+)率被用作流感活性的代理。使用分布滞后非线性模型和准泊松广义加性模型来检查感兴趣的关联。根据结果,所有类型的流感感染与高热惊厥住院风险增加显著相关(第95百分位数的累积调整相对风险[ARR]=1.590;95%CI,1.51-1.68)。ILI+A/H3N2对高热惊厥的影响比其他类型特异性ILI+发生率更明显。低平均环境温度被确定为高热惊厥的重要危险因素(第5百分位数与累积ARR=1.50中位数;95%CI,1.35-1.66),而氧化还原加权氧化能力和二氧化硫与高热惊厥无关。总之,我们的研究强调,流感感染和暴露于寒冷环境与儿童高热惊厥风险增加有关.因此,我们提倡在寒冷季节开始之前为儿童接种流感疫苗,以减轻高热惊厥的负担。
    Febrile seizures are convulsions predominately occurring in young children. The effects of various exposomes, including influenza infection and external environmental factors, on febrile seizures have not been well-studied. In this study, we elucidated the relationships between ambient temperature, air pollutants, influenza infection, and febrile seizures using 22-year territory-wide hospitalization data in Hong Kong. The aggregated data were matched with the meteorological records and air pollutant concentrations. All-type and type-specific influenza-like illness positive (ILI+) rates were used as proxies for influenza activity. Distributed lag non-linear model in conjunction with the quasi-poisson generalized additive model was used to examine the associations of interest. According to the results, all-type influenza infections were significantly associated with an increased risk of hospital admissions for febrile seizures (cumulative adjusted relative risk [ARR] = 1.59 at 95th percentile vs. 0; 95% CI, 1.51-1.68). The effect of ILI + A/H3N2 on febrile seizure was more pronounced than other type-specific ILI + rates. A low mean ambient temperature was identified as a significant risk factor for febrile seizures (cumulative ARR = 1.50 at 5th percentile vs. median; 95% CI, 1.35-1.66), while the redox-weighted oxidant capacity and sulfur dioxide were not associated with febrile seizures. In conclusion, our study underscores that influenza infections and exposure to cold conditions were related to an increased risk of febrile seizures in children. Thus, we advocate for influenza vaccination before the onset of the cold season for children to mitigate the burden of febrile seizures.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    高迁移率族蛋白1(HMGB1)在高热惊厥(FSs)发病机制中的作用尚不清楚。在我们的对照随访研究中,我们比较了第一次FS后相同个体的血清HMGB1(s-HMGB1)水平,在没有FS的高热发作期间,在经常性FS之后,在FS后的健康时期,在病人和对照组之间。总之,122例FSs患者纳入最终分析,包括18例复发性FSs,有完整的随访方案。我们招募了30名发热儿童和18名没有癫痫发作的发热儿童作为对照。首次FS后复发的FSs患者的S-HMGB1低于匹配的发热对照儿童(中位数1.12μg/L(0.14-2.95)比1.79μg/L(0.33-47.90),P<0.04)。我们没有发现两组之间s-HMGB1的任何其他差异。S-HMGB1在不同类型的FS中没有差异。我们更新了FS患者s-HMGB1的荟萃分析,发现差异仅在东亚人群中进行的研究中存在显着差异。我们得出的结论是,S-HMGB1似乎不是FSs发病机理的关键因素,但HMGB1浓度的差异可以解释某些种族相关的FSs易感性。
    The role of high-mobility group box 1 (HMGB1) in the pathogenesis of febrile seizures (FSs) is unclear. In our controlled follow-up study, we compared serum levels of HMGB1 (s-HMGB1) in the same individuals after the first FS, during febrile episodes without a FS, after recurrent FS, during healthy periods after FS, and between patients and controls. In all, 122 patients with FSs were included in the final analysis, including 18 with recurrent FSs with a complete follow-up protocol. We recruited 30 febrile children and 18 matched febrile children without seizures as controls. S-HMGB1 was lower in patients with recurrent FSs after the first FS than that in matched febrile control children (median 1.12 μg/L (0.14-2.95) vs 1.79 μg/L (0.33-47.90), P<0.04). We did not find any other differences in s-HMGB1 between the groups. S-HMGB1 did not differ in different types of FSs. We updated a meta-analysis of s-HMGB1 in patients with FSs and found that the differences were significant only in the studies conducted in East Asian populations. We conclude that S-HMGB1 does not seem to be a key factor in the pathogenesis of FSs but differences in HMGB1 concentrations could explain some of the ethnicity related susceptibility to FSs.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    高热惊厥(FS)通常被医疗保健专业人员视为一种自我限制的疾病,通常具有“良性”性质。尽管如此,它们经常导致儿科咨询,他们的管理可能因临床背景而异。对于父母和照顾者来说,目睹癫痫发作可能是一种痛苦的经历,显著影响他们的生活质量。在这次审查中,我们对金融服务管理进行了深入的探索,治疗性干预措施,和预后因素,目的是为医生提供支持并加强与家人的沟通。我们使用PubMed和WebofScience数据库进行了全面的文献检索,跨越过去50年。使用的搜索词包括“高热癫痫发作,“复杂的高热性癫痫发作,\"\"单纯性高热性癫痫发作,\"与\"儿童\"或\"婴儿。“只有以英语发表的研究或提供循证数据的研究才被纳入我们的评估。此外,我们进行了交叉引用搜索,以确定任何其他相关数据源.我们彻底的文献搜索导致了参考文献的汇编,精心挑选的论文深思熟虑地融入到这篇综述中。
    Febrile seizures (FS) are commonly perceived by healthcare professionals as a self-limited condition with a generally \'benign\' nature. Nonetheless, they frequently lead to pediatric consultations, and their management can vary depending on the clinical context. For parents and caregivers, witnessing a seizure can be a distressing experience, significantly impacting their quality of life. In this review, we offer an in-depth exploration of FS management, therapeutic interventions, and prognostic factors, with the aim of providing support for physicians and enhancing communication with families. We conducted a comprehensive literature search using the PubMed and Web of Science databases, spanning the past 50 years. The search terms utilized included \"febrile seizure,\" \"complex febrile seizure,\" \"simple febrile seizure,\" in conjunction with \"children\" or \"infant.\" Only studies published in English or those presenting evidence-based data were included in our assessment. Additionally, we conducted a cross-reference search to identify any additional relevant data sources. Our thorough literature search resulted in a compilation of references, with carefully selected papers thoughtfully integrated into this review.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    高热惊厥(FS)在儿科患者中很常见,通常由高于100.4°F(38°C)的高烧引发,通常与病毒或细菌感染有关,如呼吸道或胃肠道感染。最近的研究表明,血清微量元素浓度可能在FS的发生中起作用。本研究旨在评估儿科患者血清微量元素水平与FS之间的关系。全面搜索四个数据库,包括Scopus,WebofScience,PubMed,和谷歌学者,进行到2024年2月。这项研究遵循了PICO的结构,关注人群(FS儿科患者),干预(血清硒浓度,锌,镁,和铜),比较(有或没有控制),和结果(FS的发生)。使用纽卡斯尔-渥太华量表(NOS)工具评估纳入的观察性研究的方法学质量。在总共168篇论文中,37符合本荟萃分析的纳入标准,涵盖2018年至2023年发表的研究。与对照组相比,FS儿科患者的血清锌水平较低(SMD:-1.25,95%CI:-1.47,-1.03)。相反,与FS组相比,对照组的血清铜水平更高(SMD:0.43,95%CI:0.04,0.82).此外,与对照组相比,FS组中检测到较低的血清镁水平(SMD:-0.76,95%CI:-1.57,0.05),而FS组的血清硒水平比对照组低大约两倍(SMD:-2.23,95%CI:-2.76,-1.70)。我们的荟萃分析表明,与对照组相比,FS患儿的血清微量元素浓度较低。有必要进一步研究以阐明微量元素在FS发病机理中的潜在作用。这项荟萃分析和系统评价已在国际前瞻性系统评价登记册中注册(PROSPEROID:CRD42024519163)。注册表URL:https://www。crd.约克。AC.uk/prospro/display_record.php?ID=CRD42024519163注册表号:CRD42024519163。
    Febrile seizures (FS) are a common occurrence in pediatric patients and are typically triggered by high fevers above 100.4°F (38°C), often associated with viral or bacterial infections such as respiratory or gastrointestinal infections. Recent research suggests that the serum concentration of trace elements may play a role in the occurrence of FS. This study aimed to assess the association between serum levels of trace elements and FS in pediatric patients. A comprehensive search of four databases, including Scopus, Web of Science, PubMed, and Google Scholar, was conducted up to February 2024. The study followed the PICO structure, focusing on the Population (pediatric patients with FS), Intervention (serum concentrations of selenium, zinc, magnesium, and copper), Comparison (with or without controls), and Outcome (occurrence of FS). The methodological quality of the included observational studies was assessed using the Newcastle-Ottawa Scale (NOS) tool. Out of a total of 168 papers, 37 met the inclusion criteria for this meta-analysis, covering studies published between 2018 and 2023. Lower serum zinc levels were observed in pediatric patients with FS compared to control groups (SMD: -1.25, 95% CI: -1.47, -1.03). Conversely, higher serum copper levels were found in control groups compared to those with FS (SMD: 0.43, 95% CI: 0.04, 0.82). Additionally, lower serum magnesium levels were detected in the FS group compared to controls (SMD: -0.76, 95% CI: -1.57, 0.05), while serum selenium levels were approximately two times lower in the FS group than in controls (SMD: -2.23, 95% CI: -2.76, -1.70). Our meta-analysis suggests that pediatric patients with FS have lower serum concentrations of trace elements compared to controls. Further research is warranted to elucidate the potential role of trace elements in the pathogenesis of FS. This meta-analysis and systematic review was registered in the International prospective register of systematic reviews (PROSPERO ID: CRD42024519163). Registry URL: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42024519163 registry number: CRD42024519163.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    简介:儿童SARS-CoV-2感染通常无症状或仅有轻微症状。我们研究的目的是评估我们自己的COVID-19患者高热惊厥的发生率。患者和方法:在我们的回顾性研究中,我们回顾了2020年3月至2022年3月在我们大学医院就诊的高热惊厥儿童的数据.对照组为2018年1月至2020年1月因高热惊厥入院的患儿。结果:在冠状病毒大流行期间,51例患者接受了高热惊厥检查。在此期间,大多数(86.3%)儿童发生了第一次高热惊厥。诊断为单纯性高热惊厥40例,复杂性高热惊厥11例。12例(23.5%)患者有高热惊厥或癫痫家族史。除了高热惊厥,实验室检测证实SARS-CoV-2感染4例(7.8%)。其中三人在Omicron变异期出现高热惊厥。结论:在冠状病毒大流行期间,因高热惊厥而接受检查的儿童人数不高于对照组。冠状病毒不太可能增加高热惊厥的风险。
    Introduction: SARS-CoV-2 infection in children is usually asymptomatic or only mild symptoms are typical. The aim of our study was to assess the incidence of febrile convulsions in our own patients with COVID-19. Patients and Methods: In our retrospective study, we reviewed the data of children who presented at our University Hospital from March 2020 to March 2022 with febrile convulsion. The control group were children admitted to the hospital because of febrile convulsions from January 2018 to January 2020. Results: During the coronavirus pandemic, 51 patients were examined with febrile convulsions. The majority (86.3%) of children had their first febrile convulsion during this period. We diagnosed simple febrile convulsions in 40 cases and complicated ones in 11 cases. The family history of febrile convulsion or epilepsy was present in 12 (23.5%) patients. In addition to febrile convulsion, SARS-CoV-2 infection was confirmed by laboratory testing in 4 cases (7.8%). Three of them had febrile convulsion during the Omicron variant period. Conclusions: During the coronavirus pandemic, the number of children examined because of having febrile convulsions was not higher than in the control period. The coronavirus is unlikely to increase the risk of febrile convulsions.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    背景:复发性单纯性高热惊厥(SFS)是指在24小时内复发的高热惊厥(FS)。患有复发性SFS的患者经常进行不必要的神经诊断测试。为了解决这个问题,我们比较了复发SFS与SFS的临床特征,并探讨了与复发SFS相关的危险因素.
    方法:我们回顾性审查了2016年1月至2019年12月期间在两家培训医院因FS住院的6至60个月患者的电子病历。主要结果是比较SFS和复发性SFS患者的临床特征。此外,评估了与24小时内癫痫发作复发相关的危险因素.
    结果:254名入选患者中有四分之三(n=191,75.2%)在高热疾病期间经历了一次癫痫发作。其余63例(24.8%)被诊断为复发性SFS。在复发的SFS病史中观察到SFS和复发的SFS之间存在显着差异,从发烧到癫痫发作的时间,和到达医院时的体温。多元逻辑回归分析显示,既往SFS复发史(比值比[OR]10.161)和到达时体温低于39°C(OR2.377)与早期癫痫发作复发显着相关。
    结论:本研究强调早期FS复发是常见的,其临床病程与SFS相似。当存在早期复发病史或癫痫发作发生在低体温时,我们建议密切监测患者6至8小时。
    BACKGROUND: Recurrent simple febrile seizure (SFS) refers to febrile seizure (FS) that recurs within 24 hours. Patients with recurrent SFS often undergo unnecessary neurodiagnostic tests. To address this, we compared the clinical characteristics of recurrent SFS with those of SFS and investigated the risk factors associated with recurrent SFS.
    METHODS: We retrospectively reviewed electronic medical records of patients aged six to 60 months who had been hospitalized for FS at two training hospitals between January 2016 and December 2019. The primary outcome was a comparison of the clinical features of patients with SFS and recurrent SFS. Additionally, the risk factors associated with seizure recurrence within 24 hours were evaluated.
    RESULTS: Three quarters (n = 191, 75.2%) of the 254 enrolled patients experienced a single seizure episode during the febrile illness period. The remaining 63 patients (24.8%) were diagnosed with recurrent SFS. Significant differences between SFS and recurrent SFS were observed in the history of recurrent SFS, time from fever onset to seizure, and body temperature on hospital arrival. Multiple logistic regression analysis revealed that a history of previous recurrent SFS (odds ratio [OR] 10.161) and a body temperature below 39°C on arrival (OR 2.377) were significantly associated with early seizure recurrence.
    CONCLUSIONS: This study highlights that early FS recurrence is common and has a self-limiting clinical course similar to that of SFS. We recommend close monitoring of the patient for six to eight hours when a history of early recurrence is present or if the seizure occurs at a low body temperature.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    目的:我们检查了儿科患者常规癫痫组基因检测的产量。方法:我们回顾性回顾了2021年7月至2023年7月在医院或诊所对8岁以下患者常规进行的癫痫遗传小组结果。我们评估了人口统计学,家族史,癫痫发作类型,严重程度,和频率,发展,音调和运动异常,畸形,和脑电图(EEG)或磁共振成像(MRI)结果作为结果的预测因子。结果:包括65例患者,平均年龄4.5岁。60%的患者为男性;11例患者有致病性变异(16.9%),7人是常染色体隐性条件的携带者(10.8%),36具有不确定意义的变异(55.4%),11人检测呈阴性(16.9%)。致病性变异和不确定意义的变异与人口统计学无关,临床特征,成像,或家族史。结论:确定的变体对治疗(SCN1)有潜在影响,合并症筛查(TSC1),复制(ATAD1、PSAT1和CLN8),和预测(FOXG1)。未通过我们的标准实践常规筛查癫痫遗传原因的患者具有临床相关结果。
    Objective: We examined the yield of routine epilepsy panel genetic testing in pediatric patients. Methods: We retrospectively reviewed epilepsy genetic panel results routinely performed in the hospital or clinic on patients <8 years old from July 2021 to July 2023. We evaluated demographics, family history, seizure type, severity, and frequency, development, tone and movement abnormalities, dysmorphism, and electroencephalography (EEG) or magnetic resonance imaging (MRI) results as predictors of results. Results: 65 patients were included with mean age 4.5 years. Sixty percent of patients were male; 11 patients had pathogenic variants (16.9%), 7 were carriers for autosomal recessive conditions (10.8%), 36 had variants of uncertain significance (55.4%), and 11 tested negative (16.9%). Pathogenic variants and variants of uncertain significance were unassociated with demographics, clinical features, imaging, or family history. Conclusion: Variants identified have potential implications for treatment (SCN1), comorbidity screening (TSC1), reproduction (ATAD1, PSAT1, and CLN8), and prognostication (FOXG1). Patients not routinely screened for a genetic cause of epilepsy by our standard practices had clinically relevant results.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号