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Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review. 与神经病变相关的新型IGHMBP2基因双等位基因无义突变(CMT2S):对土耳其患者进行综合临床、遗传和生物信息学分析,并进行文献回顾。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-19 DOI: 10.1016/j.braindev.2024.104313
Cüneyd Yavas, Mustafa Dogan, Bilge Ozgor, Ekrem Akbulut, Recep Eroz

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Method: Detailed family histories and medical data were collected. Segregation analysis was performed using Sanger sequencing and whole exome sequencing. Additionally, a review of molecularly confirmed patients was conducted. Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling programs and in-silico tools.

Results: We identified a novel homozygous nonsense mutation (c.2568_2569del p.Gly857Alafs*27) in a family with a member showing neuropathy. This report details the clinical and genetic findings of the affected individuals, including a Turkish patient with neuropathy, and compares them with literature cases.

Conclusion: Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our knowledge of IGHMBP2 gene defects role in neuropathy. This study aims to highlight this severe recessive disease caused by pathogenic IGHMBP2 gene mutations and to examine the mutation spectrum and phenotype differences.

背景:脊髓性肌萎缩伴呼吸窘迫1型(SMARD1)和Charcot-Marie-Tooth型2S (CMT2S)通常在10岁前出现。遗传因素占高达50%的神经病变,往往表现出不同的症状。IGHMBP2基因的突变与CMT2S和SMARD1都相关,导致一种罕见的临床病症,其特征是轴突神经病变、脊髓性肌萎缩、呼吸窘迫和肌肉无力。方法:收集详细的家族史和医疗资料。分离分析采用Sanger测序和全外显子组测序。此外,对分子确诊患者进行了回顾。使用建模程序和计算机工具测试了IGHMBP2基因表达的蛋白质三级结构的拓扑和构象变化。结果:我们在一个有神经病变成员的家族中发现了一个新的纯合无义突变(c.2568_2569del p.Gly857Alafs*27)。本报告详细介绍了受影响个体的临床和遗传发现,包括一名土耳其神经病患者,并将其与文献病例进行了比较。结论:了解(c.2568_2569del p.Gly857Alafs*27)突变的临床影响将增强我们对IGHMBP2基因缺陷在神经病变中的作用的认识。本研究旨在突出这种由致病性IGHMBP2基因突变引起的严重隐性疾病,并研究突变谱和表型差异。
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引用次数: 0
Paroxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT). 儿童肾上腺白质营养不良症清醒脑电图阵发性三角波:造血干细胞疗法(HSCT)的可能指标。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-14 DOI: 10.1016/j.braindev.2024.104310
Kotoe Sakihara, Atsuko Gunji, Makiko Kaga, Wakana Furushima, Seiko Suzuki, Yoshimi Kaga, Masumi Inagaki

Background: Childhood cerebral type of Adrenoleukodystrophy (CC-ALD) is fatal without hematopoietic stem cell transplantation (HSCT). We consider whether EEGs showing focal paroxysmal delta waves can be a candidate of early detector of the apparent ALD and HSCT therapy.

Methods: Twenty-two male children with ALD (5-16 years; 10.4 ± 2.8) were evaluated. Fourteen children were diagnosed as CC-ALD and the rest 8 were yet asymptomatic both clinical and MRI findings. CC-ALD patients with frontal or occipital MRI main lesions were classified as Types F and O (4 and 10 patients). Asymptomatic patients were classified as Type A whose clinical types had not been known. Awake electroencephalogram was recorded during cognitive tasks and analyzed using fast Fourier transform (FFT). Eight children (1/4 F, 3/10 O and 4/8 A patients) were evaluated pre- and post-HSCT.

Results: FFT analysis revealed the high voltage slow wave characterized by an increased delta band wave power volume (DBPV) in all children. The DBPV of Type F and O patients showed anterior and posterior dominance in 4/4 and 9/10 patients. Dominant DBPV in Type A patients were anterior and posterior in 6/8 and 1/8, respectively. We classified them as Type F' and O'. DBPV decreased in all (8/8) patients after HSCT therapy.

Conclusion: All patients showed paroxysmal delta wave. In symptomatic patients, abnormal delta wave appeared in their corresponding cortical lesions and decreased after therapy. In asymptomatic patients it may be the first sign of the apparent ALD onset and suggesting when to consider HSCT therapy.

背景:儿童脑型肾上腺白质营养不良症(CC-ALD)如果不进行造血干细胞移植(HSCT)将是致命的。我们认为,显示局灶性阵发性δ波的脑电图是否可作为早期检测明显ALD和造血干细胞移植治疗的候选指标:对 22 名患有 ALD 的男性儿童(5-16 岁;10.4 ± 2.8)进行了评估。14名儿童被诊断为CC-ALD,其余8名儿童临床和磁共振成像结果均无症状。有额叶或枕叶磁共振成像主要病变的 CC-ALD 患者被分为 F 型和 O 型(4 人和 10 人)。临床类型不明的无症状患者被归为A型。在进行认知任务时记录清醒的脑电图,并使用快速傅立叶变换(FFT)进行分析。对 8 名儿童(1/4 名 F 型、3/10 名 O 型和 4/8 名 A 型患者)进行了 HSCT 前后的评估:结果:快速傅立叶变换分析显示,所有儿童都出现了高压慢波,其特点是三角波带功率体积(DBPV)增加。F型和O型患者的DBPV在4/4和9/10的患者中显示出前后优势。A 型患者的 DBPV 优势分别为前方和后方,分别占 6/8 和 1/8。我们将他们分为 F'型和 O'型。所有患者(8/8)在接受造血干细胞移植治疗后,DBPV 均有所下降:结论:所有患者均出现阵发性三角波。在有症状的患者中,异常德尔塔波出现在相应的皮质病变中,并在治疗后下降。在无症状的患者中,这可能是明显的 ALD 发病的首发症状,并提示何时考虑造血干细胞移植治疗。
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引用次数: 0
NeuroPAIN app: Usefulness of a mobile pain application evaluation system for children with cerebral palsy. NeuroPAIN应用程序:移动疼痛应用程序评估系统对脑瘫儿童的有用性。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-14 DOI: 10.1016/j.braindev.2024.104308
Kher Hui Ng, Choong Yi Fong, Mohd Fazrul Shafiq Kamarudzaman, Wei Hong Lo, Farah Khalid, Lee Ai Chong

Objectives: Children with cerebral palsy (CP) can experience a substantial amount of pain. Effective pain management hinges on precise and prompt assessment. We designed a mobile-based application NeuroPAIN app to monitor pain among children with CP. NeuroPAIN app allowed parents to record pain symptoms, pain duration, and rate the perceived pain their child was facing. We evaluated the usefulness of NeuroPAIN app in pain recognition and monitoring among Malaysian parents of children with bilateral CP.

Method: Prospective cohort study of all parents of children with bilateral non-ambulant CP who owned Android devices. NeuroPAIN app was installed in all participants. At 3-month follow-up, data of the NeuroPAIN app was analyzed and participants were given a feedback questionnaire to complete.

Results: Total of 60 parents participated in the study (child's median age 7 years, interquartile range 4-8.75 years). The vast majority (95 %) of parents reported pain in their children. Children with assisted tube feeding was associated with reported increased pain frequency. Majority (77 %) felt it was easy to navigate the NeuroPAIN app. Two-thirds regularly tracked their child's pain using the app over a 2-month period. Parents of children with prolonged periods of pain ≥25 s were associated with reduced app usage.

Conclusion: Majority of Malaysian children with bilateral CP often experience pain particularly among those with assisted tube feeding highlighting the importance for clinicians to be vigilant in monitoring pain among these children. Prolonged pain periods among children with CP may lead to parental fatigue in monitoring pain through the NeuoPAIN app.

目的:患有脑瘫(CP)的儿童可能会经历大量疼痛。有效的疼痛管理取决于精确和及时的评估。我们设计了一款基于手机的应用程序 NeuroPAIN,用于监测 CP 儿童的疼痛情况。通过 NeuroPAIN 应用程序,家长可以记录疼痛症状、疼痛持续时间,并对孩子所面临的疼痛进行评分。我们评估了 NeuroPAIN 应用程序在马来西亚双侧脊髓灰质炎患儿家长中识别和监测疼痛的实用性:方法:前瞻性队列研究,对象是所有拥有安卓设备的双侧非行走障碍儿童的家长。所有参与者都安装了 NeuroPAIN 应用程序。在 3 个月的随访中,对 NeuroPAIN 应用程序的数据进行分析,并向参与者发放反馈问卷:共有 60 名家长参与了研究(儿童年龄中位数为 7 岁,四分位数区间为 4-8.75 岁)。绝大多数家长(95%)表示孩子感到疼痛。据报告,使用辅助管喂养的儿童疼痛频率增加。大多数家长(77%)认为 NeuroPAIN 应用程序易于使用。三分之二的家长在 2 个月内定期使用该应用程序跟踪孩子的疼痛情况。如果儿童的疼痛持续时间≥25 秒,则其父母会减少使用该应用程序:大多数马来西亚双侧CP患儿经常会感到疼痛,尤其是那些使用辅助管喂养的患儿,这凸显了临床医生在监测这些患儿疼痛时保持警惕的重要性。CP患儿疼痛时间过长可能会导致家长疲于通过NeuoPAIN应用程序监测疼痛。
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引用次数: 0
The correlation of intracranial parenchymal calcium score and the severity of neurological clinical presentation in carbonic anhydrase deficiency type 2. 碳酸酐酶缺乏症2型患者脑实质钙评分与神经学临床表现严重程度的相关性。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-11 DOI: 10.1016/j.braindev.2024.104309
Basma AlFaris, Fahad B AlBader, Rawan AlSheikh, Fahad A Bashiri, Muddathir H Hamad, Amal Kentab, Malak Alghamdi

Background: Carbonic anhydrase type II deficiency (CAII-D) syndrome is a rare autosomal recessive genetic disorder characterized by osteopetrosis, renal tubular acidosis, and brain calcifications. Understanding the clinical and radiological features of CAII-D is key to effective management.

Aim: This study aimed to comprehensively analyze and measure intracranial parenchymal calcium score in pediatric CAII-D in relation to the severity of neurological clinical presentation.

Methods: A retrospective chart review at King Saud University Medical City included pediatric CAII-D patients diagnosed between June 2015 and December 2022. Study variables included age, gender, genetic results, developmental status, developmental quotient (DQ), CT findings, optic canal diameter, intracranial calcium score, and neuropsychiatric symptoms.

Results: Ten CAII-D patients, median age 10.5 years, were included. Most patients displayed homozygous pathogenic CA2 gene variants. For neurodevelopmental symptoms, 60.0 % of patients presented with global developmental delay, 20.0 % had intellectual disability, and the remaining 20.0 % had normal development. The median DQ score was 63.50, with 80.0 % categorized as delayed. Neuropsychiatric disorders were present in 20.0 %. Optic nerve atrophy was observed in 22.2 %, while brain calcifications were present in 70.0 % of cases. Correlation analysis revealed no significant associations between intracranial parenchymal calcium score and age, DQ score, or optic canal diameter. Neurodevelopmental symptoms, neuropsychiatric symptoms, and DQ were not associated with intracranial parenchymal calcium score.

Conclusion: Intraparenchymal calcifications in CAII-D are common but unrelated to developmental delay and neuropsychiatric symptoms, suggesting complex pathophysiology. Follow-up brain imaging may not aid in prognosis or severity assessment, highlighting the need for further research.

背景:碳酸酐酶II型缺乏症(CAII-D)是一种罕见的常染色体隐性遗传病,以骨质疏松、肾小管酸中毒和脑钙化为特征。了解CAII-D的临床和影像学特征是有效治疗的关键。目的:本研究旨在综合分析和测量小儿CAII-D颅内实质钙评分与神经学临床表现严重程度的关系。方法:回顾性回顾沙特国王大学医学城2015年6月至2022年12月诊断的儿科CAII-D患者。研究变量包括年龄、性别、遗传结果、发育状态、发育商(DQ)、CT表现、视管直径、颅内钙评分和神经精神症状。结果:纳入10例CAII-D患者,中位年龄10.5岁。大多数患者显示纯合子致病性CA2基因变异。对于神经发育症状,60.0%的患者表现为整体发育迟缓,20.0%为智力障碍,其余20.0%发育正常。DQ得分中位数为63.50,其中80.0%被归类为延迟。20.0%存在神经精神障碍。视神经萎缩占22.2%,脑钙化占70.0%。相关分析显示颅内实质钙评分与年龄、DQ评分或视神经管直径无显著相关性。神经发育症状、神经精神症状和DQ与颅内实质钙评分无相关性。结论:cai - d的实质内钙化是常见的,但与发育迟缓和神经精神症状无关,提示复杂的病理生理。随访脑成像可能不能帮助预后或严重程度评估,强调需要进一步研究。
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引用次数: 0
Japanese guidelines for treatment of pediatric status epilepticus – 2023 日本儿童癫痫持续状态治疗指南- 2023
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-02 DOI: 10.1016/j.braindev.2024.104306
Kenjiro Kikuchi , Ichiro Kuki , Masahiro Nishiyama , Yuki Ueda , Ryuki Matsuura , Tadashi Shiohama , Hiroaki Nagase , Tomoyuki Akiyama , Kenji Sugai , Kitami Hayashi , Kiyotaka Murakami , Hitoshi Yamamoto , Tokiko Fukuda , Mitsuru Kashiwagi , Yoshihiro Maegaki
The updated definition of status epilepticus (SE) by the International League Against Epilepsy in 2015 included two critical time points (t1: at which the seizure should be regarded as an “abnormally prolonged seizure”; and t2: beyond which the ongoing seizure activity can pose risk of long-term consequences) to aid in diagnosis and management and highlights the importance of early treatment of SE more clearly than ever before. Although Japan has witnessed an increasing number of pre-hospital drug treatment as well as first- and second-line treatments, clinical issues have emerged regarding which drugs are appropriate. To address these clinical concerns, a revised version of the “Japanese Guidelines for the Treatment of Pediatric Status Epilepticus 2023” (GL2023) was published. For pre-hospital treatment, buccal midazolam is recommended. For in-hospital treatment, if an intravenous route is unobtainable, buccal midazolam is also recommended. If an intravenous route can be obtained, intravenous benzodiazepines such as midazolam, lorazepam, and diazepam are recommended. However, the rates of seizure cessation were reported to be the same among the three drugs, but respiratory depression was less frequent with lorazepam than with diazepam. For established SE, phenytoin/fosphenytoin and phenobarbital can be used for pediatric SE, and levetiracetam can be used in only adults in Japan. Coma therapy is recommended for refractory SE, with no recommended treatment for super-refractory SE. GL2023 lacks adequate recommendations for the treatment of nonconvulsive status epilepticus (NCSE). Although electrographic seizure and electrographic SE may lead to brain damages, it remains unclear whether treatment of NCSE improves outcomes in children. We plan to address this issue in an upcoming edition of the guideline.
2015年国际抗癫痫联盟对癫痫持续状态(SE)的最新定义包括两个关键时间点(t1:癫痫发作应被视为“异常延长的癫痫发作”;(2)持续的癫痫活动可能造成长期后果的风险),以帮助诊断和管理,并比以往任何时候都更清楚地强调了早期治疗SE的重要性。尽管日本的院前药物治疗以及一线和二线治疗越来越多,但关于哪些药物是适当的临床问题已经出现。为了解决这些临床问题,修订版《日本儿童癫痫持续状态治疗指南2023》(GL2023)发布。对于院前治疗,建议使用口腔咪达唑仑。对于住院治疗,如果无法获得静脉注射途径,也建议使用口腔咪达唑仑。如果可以获得静脉途径,建议静脉注射苯二氮卓类药物,如咪达唑仑、劳拉西泮和地西泮。然而,据报道,三种药物的癫痫发作停止率相同,但劳拉西泮的呼吸抑制频率低于地西泮。对于已建立的SE,苯妥英/磷苯妥英和苯巴比妥可用于儿童SE,而在日本,左乙西坦仅可用于成人SE。对难治性SE推荐昏迷治疗,对超难治性SE不推荐治疗。GL2023缺乏治疗非惊厥性癫痫持续状态(NCSE)的充分建议。尽管电图癫痫发作和电图SE可能导致脑损伤,但目前尚不清楚NCSE的治疗是否能改善儿童的预后。我们计划在指南的下一个版本中解决这个问题。
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引用次数: 0
New Year's Greetings. 恭贺新年。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-12-01 DOI: 10.1016/j.braindev.2024.104307
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引用次数: 0
Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models CYFIP2相关神经发育障碍的最新进展:从人类遗传学到分子机制和小鼠模型
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-26 DOI: 10.1016/j.braindev.2024.104302
Ruiying Ma , U Suk Kim , Yousun Chung , Hyae Rim Kang , Yinhua Zhang , Kihoon Han
Cytoplasmic FMR1-interacting protein 2 (CYFIP2) is an evolutionarily conserved protein with a critical role in brain development and function. As a key component of the WAVE regulatory complex, CYFIP2 regulates actin cytoskeleton dynamics, essential for maintaining proper neuronal morphology and circuit formation. Recent studies have also shown that CYFIP2 interacts with various RNA-binding proteins, suggesting its involvement in mRNA processing and translation in neurons. Since 2018, de novo CYFIP2 variants have been identified in patients with neurodevelopmental disorders, particularly developmental and epileptic encephalopathy and West syndrome, characterized by early-onset intractable seizures, intellectual disability, microcephaly, and developmental delay. This review summarizes these CYFIP2 variants and examines their potential impact on the molecular functions of CYFIP2, focusing on its roles in regulating actin dynamics and mRNA processing/translation. Additionally, we review various Cyfip2 mouse models, highlighting the insights they offer into CYFIP2 function, dysfunction, and clinical relevance. Finally, we discuss future research directions aimed at better understanding CYFIP2-associated neurodevelopmental disorders and potential therapeutic strategies.
细胞质 FMR1 结合蛋白 2(CYFIP2)是一种进化保守的蛋白质,在大脑发育和功能中起着关键作用。作为 WAVE 调控复合物的关键成分,CYFIP2 可调节肌动蛋白细胞骨架的动态,这对维持神经元的正常形态和回路形成至关重要。最近的研究还表明,CYFIP2 与多种 RNA 结合蛋白相互作用,表明它参与了神经元中 mRNA 的加工和翻译。自2018年以来,在神经发育障碍患者中发现了新的CYFIP2变体,特别是发育性和癫痫性脑病以及韦斯特综合征,其特点是早发性难治性癫痫发作、智力障碍、小头畸形和发育迟缓。本综述总结了这些 CYFIP2 变异,并探讨了它们对 CYFIP2 分子功能的潜在影响,重点关注其在调节肌动蛋白动力学和 mRNA 处理/翻译中的作用。此外,我们还回顾了各种 Cyfip2 小鼠模型,强调了这些模型对 CYFIP2 功能、功能障碍和临床相关性的启示。最后,我们讨论了未来的研究方向,旨在更好地了解与 CYFIP2 相关的神经发育障碍和潜在的治疗策略。
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引用次数: 0
Efficacy, safety, and tolerability of adjunctive perampanel in the treatment of pediatric patients aged 4–18 years with epilepsy: A single-center, retrospective, observational real-world study 治疗 4-18 岁儿童癫痫患者的辅助用药 perampanel 的疗效、安全性和耐受性:一项单中心、回顾性、观察性真实世界研究。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-20 DOI: 10.1016/j.braindev.2024.104305
Yijun Weng , Xin Rao , Bihong Ma , Xi Lin

Purpose

To observe the efficacy, safety, and tolerability of perampanel (PER) as add-on therapy in children aged 4–18 years with epilepsy in a real-world environment.

Methods

A single-center, retrospective, observational study was conducted at the First Affiliated Hospital of Fujian Medical University enrolling children with epilepsy aged 4–18 years who received PER as add-on therapy from January 2021 to November 2022 with 12 months of follow-up. Outcomes included 3-, 6- and 12-month retention, seizure freedom, responder rates, and adverse events (AEs) throughout follow-up.

Results

Seventy-eight children were included, of whom three were lost to follow-up. The responder rate at follow-up of 12 months was 54.7 %, the seizure-free rate was 32.0 % and the retention rate was 81.3 %. The number of seizures at baseline was a factor influencing the efficacy of the PER. Nine children reported AEs, with dizziness, drowsiness, and irritability being common.

Conclusions

PER is safe, effective, and well tolerated for the treatment of children aged 4–18 years with epilepsy in clinical practice and is a potential option for refractory epilepsy. Patients with lower baseline seizure frequencies are more likely to exhibit a favorable response to PER.
目的:在真实世界环境中观察培南帕奈(PER)作为4-18岁癫痫患儿附加疗法的疗效、安全性和耐受性:福建医科大学附属第一医院开展了一项单中心、回顾性、观察性研究,招募了 2021 年 1 月至 2022 年 11 月期间接受 PER 作为附加疗法的 4-18 岁癫痫患儿,随访 12 个月。结果包括3个月、6个月和12个月的保留率、癫痫发作自由度、应答率以及随访期间的不良事件(AEs):结果:共纳入 78 名儿童,其中 3 名儿童失去了随访机会。随访 12 个月时的应答率为 54.7%,无癫痫发作率为 32.0%,保留率为 81.3%。基线时的癫痫发作次数是影响 PER 疗效的一个因素。9名儿童报告了AEs,其中头晕、嗜睡和烦躁是常见症状:在临床实践中,PER 用于治疗 4-18 岁的癫痫患儿安全、有效且耐受性良好,是治疗难治性癫痫的潜在选择。基线发作频率较低的患者更有可能对 PER 表现出良好的反应。
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引用次数: 0
Levetiracetam for pediatric migraine prophylaxis: A narrative review 用于小儿偏头痛预防的左乙拉西坦:叙述性综述。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-17 DOI: 10.1016/j.braindev.2024.104304
Maryam Shahrokhi , Amir Mohammad Davari Fard Pur , Negar Shafaei-Bajestani , Habibeh Mashayekhi-sardoo

Background

Migraine, a common primary headache disorder, affects children and adolescents under 18, often bilateral and lasting 2–72  hours, affecting 7.7% of them.

Objective

Recent studies on migraine prevention and treatment in children and adolescents have explored the potential benefits of levetiracetam, considering its side effects and potential effects on migraines. Hence, we aimed to review the studies that have examined the possible mechanism and beneficial effects of levetiracetam in children's and adolescents' migraine.

Methods

A comprehensive search of English and non-English trials evaluating levetiracetam's effectiveness in pediatric migraine treatment using relevant keywords was conducted in scientific databases including PubMed, Web of Science, and the Cochrane Controlled Trials Register in Feb 2024. The studies included non-randomized controlled trials, uncontrolled trials, and retrospectively reviewed medical charts plus randomized controlled trials.

Results

Seven studies were included in this review. They revealed that levetiracetam can promisingly complete the resolution of migraines, and decrease the duration, severity, number of migraine episodes, and frequency of migraine in children. In addition, levetiracetam diminished the Pediatric Migraine Disability Assessment Scale score in them.

Conclusion

Seven studies suggest levetiracetam, at doses ranging from 20 to 60 mg/kg/day (250–3000 mg/day), can significantly reduce migraine frequency and duration, but larger controlled trials are needed.
背景:偏头痛是一种常见的原发性头痛疾病:偏头痛是一种常见的原发性头痛疾病,多发于18岁以下的儿童和青少年,常为双侧性,持续2-72小时,发病率为7.7%:最近关于儿童和青少年偏头痛预防和治疗的研究探讨了左乙拉西坦的潜在益处,同时考虑到其副作用和对偏头痛的潜在影响。因此,我们旨在回顾研究左乙拉西坦对儿童和青少年偏头痛的可能机制和有益作用:方法:2024 年 2 月,我们使用相关关键词在科学数据库(包括 PubMed、Web of Science 和 Cochrane Controlled Trials Register)中对评估左乙拉西坦在儿童偏头痛治疗中有效性的英文和非英文试验进行了全面检索。研究包括非随机对照试验、无对照试验、回顾性病历以及随机对照试验:本综述共纳入七项研究。研究显示,左乙拉西坦能有效缓解偏头痛,并能缩短偏头痛的持续时间、减轻偏头痛的严重程度、减少偏头痛的发作次数和频率。此外,左乙拉西坦还能降低儿童偏头痛残疾评估量表的评分:七项研究表明,左乙拉西坦的剂量为20至60毫克/千克/天(250至3000毫克/天),可显著减少偏头痛的频率和持续时间,但仍需进行更大规模的对照试验。
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引用次数: 0
Impact of COVID-19 pandemic on accesses for seizures in the pediatric emergency department COVID-19 大流行对儿科急诊室癫痫发作就诊的影响。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2024-11-16 DOI: 10.1016/j.braindev.2024.104303
Alberto M. Cappellari , Alessandro Salici , Antonio A. Tirozzi , Maria T. Molisso , Gaia Bruschi , Elisabetta Lo Iudice , Sarah Palumbo , Giuseppe Bertolozzi

Background

Several studies reported a reduced rate of accesses to pediatric emergency department (ED) for seizures during COVID-19 pandemic. The aim of our study is to evaluate the attendance to pediatric ED for seizures, as well as the influence of seizure type and personal history of seizures on the rate of admissions during the pandemic period.

Methods

The number and clinical features of patients admitted to the pediatric ED because of seizures were collected at a single hospital in Milan, Italy, between January 2017 and December 2021. The impact of COVID-19 on the rate of admissions was quantified by using the incidence rate ratio (IRR), comparing the pandemic period (March 2020 to December 2021) to the pre-pandemic (January 2017 to February 2020).

Results

During the study period, 1091 patients with seizures were evaluated, 776 (71.1 %) before the pandemic and 315 (28.9 %) during the pandemic. Mean age at evaluation was 3.9 years (range: 1 month to 17 years). During the pandemic, we found a 30 % decrease in evaluation rates per month (IRR, 0.70; 95 % CI, 0.58–0.84), as well as an increased rate of unprovoked seizures (44.8 %, vs 26.5 %, p < 0.001) and focal seizures (29.5 % vs 13.1 %, p < 0.001).

Conclusions

Our study showed a reduction in the number of emergency evaluations for seizures during the COVID-19 pandemic. The rate of evaluations was influenced by seizure type and previous history of seizures.
背景:一些研究报告称,在COVID-19大流行期间,因癫痫发作而前往儿科急诊室(ED)就诊的人数有所减少。我们的研究旨在评估大流行期间因癫痫发作到儿科急诊室就诊的情况,以及癫痫发作类型和个人癫痫发作史对入院率的影响:方法:2017 年 1 月至 2021 年 12 月期间,在意大利米兰的一家医院收集了因癫痫发作而被儿科急诊室收治的患者人数和临床特征。通过比较大流行期间(2020 年 3 月至 2021 年 12 月)与大流行前(2017 年 1 月至 2020 年 2 月)的发病率比(IRR),量化了 COVID-19 对入院率的影响:在研究期间,共有 1091 名癫痫发作患者接受了评估,其中 776 人(71.1%)在大流行前接受了评估,315 人(28.9%)在大流行期间接受了评估。评估时的平均年龄为 3.9 岁(范围:1 个月至 17 岁)。大流行期间,我们发现每月评估率下降了 30%(IRR,0.70;95 % CI,0.58-0.84),无诱因癫痫发作率上升(44.8% vs 26.5%,P 结论:大流行期间,每月评估率下降了 30%(IRR,0.70;95 % CI,0.58-0.84):我们的研究表明,在 COVID-19 大流行期间,因癫痫发作而进行紧急评估的人数有所减少。评估率受癫痫发作类型和既往癫痫发作史的影响。
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Brain & Development
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