Brain & Development最新文献_第10页

Post-COVID-19 trends in pediatric meningitis in the PICU: A multicenter study covid -19后PICU儿童脑膜炎的趋势：一项多中心研究

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-07-29 DOI: 10.1016/j.braindev.2025.104408

Nihal Akçay , İlyas Bingöl , Demet Tosun , Muhterem Duyu , Abdulrahman Özel , Servet Yüce , Burcu Bursal , Meningitis Study Group

Background

Meningitis is a severe and potentially life-threatening infection characterized by inflammation of the leptomeningeal membranes that protect the brain and spinal cord. This study aimed to evaluate the epidemiological and clinical features of pediatric patients with laboratory-confirmed meningitis admitted to pediatric intensive care units (PICUs).

Methods

This multicenter retrospective study included patients with laboratory-confirmed meningitis who were admitted to eight tertiary PICUs in Istanbul, Turkey, between January 1, 2023, and December 31, 2024.

Results

A total of 66 pediatric patients with laboratory-confirmed meningitis requiring intensive care were included. Of these, 39 (59 %) were diagnosed with bacterial meningitis and 27 (41 %) with viral meningitis. Among the bacterial meningitis cases, the most frequently identified pathogens were Streptococcus pneumoniae (41.0 %), Neisseria meningitidis (15.4 %), and Haemophilus influenzae (10.2 %). In the viral group, the most common pathogens were herpes simplex virus type 1 (25.9 %), enterovirus (22.2 %), and human herpesvirus 6 (22.2 %). The bacterial meningitis group had significantly higher white blood cell counts and C-reactive protein levels, and lower cerebrospinal fluid glucose levels compared with the viral meningitis group (p < 0.05). Signs of meningeal irritation and Pediatric Logistic Organ Dysfunction (PELOD) scores were also significantly higher in the bacterial meningitis group (p < 0.05). Age, sex distribution, PICU length of stay, presenting symptoms, rates of sequelae, and mortality did not differ significantly between the two groups. Intravenous immunoglobulin use was significantly more common in the viral meningitis group (p < 0.05).

Conclusions

Bacterial meningitis remains the leading cause of meningitis cases requiring pediatric intensive care. Continued public health efforts are essential to reduce mortality and prevent long-term sequelae associated with this serious condition.

背景：脑膜炎是一种严重且可能危及生命的感染，其特征是保护大脑和脊髓的轻脑膜膜的炎症。本研究旨在评估儿科重症监护病房（picu）收治的实验室确诊脑膜炎患儿的流行病学和临床特征。方法本多中心回顾性研究纳入2023年1月1日至2024年12月31日在土耳其伊斯坦布尔8个三级picu收治的实验室确诊脑膜炎患者。结果共纳入66例经实验室确诊需要重症监护的小儿脑膜炎患者。其中39例（59%）被诊断为细菌性脑膜炎，27例（41%）被诊断为病毒性脑膜炎。在细菌性脑膜炎病例中，最常见的病原体是肺炎链球菌（41.0%）、脑膜炎奈瑟菌（15.4%）和流感嗜血杆菌（10.2%）。在病毒组中，最常见的病原体是单纯疱疹病毒1型（25.9%）、肠道病毒（22.2%）和人类疱疹病毒6型（22.2%）。细菌性脑膜炎组白细胞计数和c反应蛋白水平显著高于病毒性脑膜炎组，脑脊液葡萄糖水平显著低于病毒性脑膜炎组(p <；0.05)。细菌性脑膜炎组的脑膜刺激症状和儿童后勤器官功能障碍（PELOD）评分也显著较高(p <；0.05)。年龄、性别分布、PICU住院时间、出现症状、后遗症率和死亡率在两组之间无显著差异。静脉注射免疫球蛋白在病毒性脑膜炎组中更为常见(p <；0.05)。结论细菌性脑膜炎仍然是需要儿童重症监护的脑膜炎病例的主要原因。持续的公共卫生努力对于降低死亡率和预防与这一严重疾病相关的长期后遗症至关重要。

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引用次数: 0

Characteristics of visual search and brain activity in Japanese elementary schoolchildren: A cross-sectional study using functional near-infrared spectroscopy 日本小学生视觉搜索与脑活动特征：功能近红外光谱横断面研究。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-13 DOI: 10.1016/j.braindev.2025.104401

Koji Yano , Akiko Suzuki , Yachun Qian , Akiko Megumi , Jungpil Shin , Makoto Wada , Akira Yasumura

Introduction

Visual search is a crucial behavior that supports learning, work, and other daily activities. However, the specific characteristics of visual search and the associated brain activity in Japanese elementary school children have not been thoroughly investigated. This study aimed to elucidate these characteristics by examining visual search behavior and prefrontal cortex (PFC) activity in this population.

Methods

Seventy-one schoolchildren were divided into three age groups (7–8 years, 9–10 years, and 11–12 years). Their PFC activity was measured using functional near-infrared spectroscopy (fNIRS) while they performed a cancellation task under two conditions: a structured array and a random array. Visual search behavior was evaluated using multiple indices, including the number of correct responses and the ratio of intersections, analyzed from multiple perspectives.

Results

The number of correct responses reflecting visual search processing ability, was significantly higher in the older age group. The ratio of intersections, an index of the systematicity of visual search, was significantly lower in the structured array condition compared to the random array condition, but only in the 11–12-year-old group. Additionally, this group showed significantly greater PFC activation during the structured array condition than during the random array, whereas the younger groups exhibited the opposite pattern.

Conclusion

These findings suggest a developmental relationship between the systematicity of visual search and changes in PFC activity. A multifaceted approach combining physiological and behavioral measures may offer deeper insights into the characteristics of visual search in elementary school children.

简介：视觉搜索是支持学习、工作和其他日常活动的关键行为。然而，日本小学生视觉搜索的具体特征和相关的大脑活动尚未得到彻底的调查。本研究旨在通过检查视觉搜索行为和前额叶皮层（PFC）活动来阐明这些特征。方法：71名小学生分为7 ~ 8岁 、9 ~ 10岁 和11 ~ 12岁 三个年龄组。当他们在两种条件下（结构化阵列和随机阵列）执行取消任务时，使用功能近红外光谱（fNIRS）测量了他们的PFC活动。采用正确回答次数、路口比例等多个指标对视觉搜索行为进行评价，从多个角度进行分析。结果：反映视觉搜索处理能力的正确率在年龄较大的年龄组中显著高于其他年龄组。与随机排列组相比，结构化排列组的视觉搜索系统性指标交叉口比率显著低于随机排列组，但仅限于11-12岁组。此外，这一组在结构化阵列条件下比在随机阵列条件下表现出更大的PFC激活，而年轻的组则表现出相反的模式。结论：这些发现表明视觉搜索的系统性与PFC活动的变化之间存在发展关系。结合生理和行为测量的多方位方法可以更深入地了解小学生视觉搜索的特征。

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引用次数: 0

Gene therapy for Duchenne muscular dystrophy 杜氏肌营养不良症的基因治疗

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-22 DOI: 10.1016/j.braindev.2025.104424

Yuko Shimizu-Motohashi

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants of the DMD that leads to progressive muscle degeneration. Recent advances in gene therapy have opened new therapeutic avenues, particularly through the use of adeno-associated virus (AAV)-mediated micro-dystrophin delivery. Delandistrogene moxeparvovec, the first FDA-approved gene therapy for DMD, has demonstrated transgene expression and potential functional improvement in early phase trials, although its long-term efficacy, durability, and safety remain unconfirmed. Immune-mediated toxicities including myositis, myocarditis, and liver injury present significant clinical challenges, prompting the need for careful patient selection, immunoprophylaxis, and post-treatment monitoring. In addition to micro-dystrophin replacement, novel gene therapy approaches such as endogenous dystrophin upregulation, exon skipping, and adjunctive muscle-enhancement strategies are being explored. Future studies focus on overcoming vector size limitations by using dual/triple AAV systems or non-viral platforms, improving muscle tropism through capsid and promoter engineering, and expanding eligibility through desensitization protocols. This review provides an integrated overview of the current progress, challenges, and future perspectives in gene therapy for DMD, with the aim of supporting its safe and effective clinical implementation.

杜氏肌营养不良症（DMD）是一种由DMD变异引起的x连锁神经肌肉疾病，可导致进行性肌肉变性。基因治疗的最新进展开辟了新的治疗途径，特别是通过使用腺相关病毒（AAV）介导的微肌营养不良蛋白递送。Delandistrogene moxeparvovec是fda批准的首个DMD基因疗法，在早期试验中已经证明了转基因表达和潜在的功能改善，尽管其长期疗效、持久性和安全性仍未得到证实。包括肌炎、心肌炎和肝损伤在内的免疫介导的毒性在临床中提出了重大挑战，促使需要仔细选择患者、免疫预防和治疗后监测。除了微肌营养不良蛋白替代，新的基因治疗方法，如内源性肌营养不良蛋白上调、外显子跳跃和辅助肌肉增强策略正在探索中。未来的研究重点是通过使用双/三重AAV系统或非病毒平台来克服载体大小的限制，通过衣壳和启动子工程改善肌肉趋向性，以及通过脱敏方案扩大适性。本文综述了目前DMD基因治疗的进展、挑战和未来展望，旨在支持其安全有效的临床实施。

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引用次数: 0

Parent-child interaction therapy as a therapeutic approach for children with autism spectrum disorder in Japan 亲子互动疗法对日本自闭症谱系障碍儿童的治疗效果。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-09-17 DOI: 10.1016/j.braindev.2025.104434

Mieko Hirose

Background

Children with autism spectrum disorder (ASD) often face difficulties in parent-child relationships and exhibit problematic behaviors. This study retrospectively examines the effects of standard Parent-Child Interaction Therapy (PCIT) for children with ASD and their caregivers in Japan, focusing on reducing parental stress and children's problematic behaviors.

Methods

Eight parent-child dyads with children aged 2.5–7 years with ASD underwent standard PCIT. Measures included the Eyberg Child Behavior Inventory (ECBI), Beck Depression Inventory-II (BDI-II), Parenting Stress Index-Short Form (PSI-SF), and Child Behavior Checklist for Ages 4–18 (CBCL/4–18), assessed pre- and post-treatments.

Results

For parents, ECBI problem score decreased from 16.8 (SD ± 4.4) to 3.0 (SD ± 4.1) pre- and post-treatment (p < 0.05, effect size 1.9). PSI-SF parent section scores dropped from 28.7 (SD ± 7.1) to 22.1 (SD ± 6.2) (p < 0.01, effect size 2.0). The total PSI-SF score from 58.1 (SD ± 10.9) to 45.0 (SD ± 11.1), (p < 0.01, effect size 1.7). For children, ECBI intensity scores decreased from 147.9 (SD ± 20.3) to 85.5 (SD ± 17.7) (p < 0.01, effect size 3.4). PSI-SF child section scores fell from 29.4 (SD ± 4.8) to 22.9 (SD ± 5.8) (p < 0.05, effect size of 1.2), and total CBCL from 70.3 (SD ± 5.9) to 62.0 (SD ± 8.4) (p < 0.05, effect size of 1.5).

Conclusion

The standard PCIT for children with ASD and their parents in Japan significantly reduces parental stress and children's problematic behaviors, improving parent-child interactions.

背景：自闭症谱系障碍（ASD）儿童在亲子关系中经常面临困难，并表现出问题行为。本研究回顾性研究了标准亲子互动疗法（PCIT）对日本自闭症儿童及其照顾者的影响，重点是减少父母的压力和儿童的问题行为。方法：8对2.5 ~ 7岁ASD患儿进行标准PCIT治疗。测量方法包括Eyberg儿童行为量表（ECBI）、Beck抑郁量表- ii （BDI-II）、父母压力指数简表（PSI-SF）和4-18岁儿童行为检查表（CBCL/4-18），对治疗前后进行评估。结果：家长的ECBI问题评分从治疗前后的16.8 （SD±4.4）降至3.0 (SD±4.1)(p)。结论：日本ASD儿童及其家长的标准PCIT显著降低了父母的压力和儿童的问题行为，改善了亲子互动。

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引用次数: 0

When neutral isn't negative: missteps in survey data analysis. 当中性并非消极时：调查数据分析中的失误。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-09 DOI: 10.1016/j.braindev.2025.104417

Prateek Kumar Panda, Indar Kumar Sharawat

引用次数: 0

Alleviating stress and perceived stigma in parents after febrile seizure in their children 减轻儿童热性惊厥后父母的压力和耻辱感

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-09-21 DOI: 10.1016/j.braindev.2025.104445

Takuya Tanabe , Mitsuru Kashiwagi , Motoko Ogino , Chizu Oba , Yuki Iai , Chihiro Yamamoto , Tetsuo Kubota , Hideaki Kanemura

Objectives

Febrile seizure (FS) is a worrisome event for parents. This study aimed to investigate how stress and perceived stigma are alleviated after experience FS in their children.

Methods

Parents who visited hospitals because of FS exhibited by their children were invited to participate this study. One hundred and sixty-one parents answered the questionnaire (1st Q); among them, 52 parents answered the same questionnaire (2nd Q) after 3 months. The questionnaire consisted of the Impact of Event Scale-Revised (IES-R) and the Parent Stigma Scale (PSS). The scores between the 1st Q and 2nd Q were compared with 52 participants who answered both questionnaires.

Results

The median value of the IES-R total score was 11, and 20 participants showed >24 in the 1st Q (n = 161). IES-R subscales of Intrusion and Hyperarousal symptoms and one item of PSS, “people who know your children have a FS treat your children differently”, decreased significantly (p<0.010, p = 0.013 and p = 0.038, respectively) from the 1st Q (n = 52) to 2nd Q (n = 52). Parents with children having a past history of FS showed significantly higher PSS scores than parents with children having first FS episode (p = 0.029) in the 1st Q (n = 161). Parents who had some knowledge about FS could deal significantly more appropriately with FS attacks compared with those who had no prior knowledge (p<0.001) in both the 1st Q (n = 161) and 2nd Q (n = 52).

Conclusions

Stress and stigma in parents were reduced to some extent 3 months after the FS attacks in their children. Recurrent FS can cause a transient perception of parental stigma. Appropriate education regarding correct management before experiencing the first episode of FS may be important.

目的热性惊厥（FS）是困扰家长的一件大事。本研究旨在探讨儿童在经历FS后，压力和感知耻辱是如何减轻的。方法邀请因孩子表现出FS而到医院就诊的家长参与本研究。161名家长回答了问卷（第1题）；其中，52名家长在3个月后回答了同样的问卷（第二题）。问卷由事件影响量表（IES-R）和父母污耻感量表（PSS）组成。将第1和第2题的得分与52名同时回答两份问卷的参与者进行比较。结果IES-R总分中位值为11分，其中20例（161例）在第1季表现为24分。在第一季度（n = 52）至第二季度（n = 52），入侵和过度唤醒症状的es - r分量表和PSS的一项“知道你的孩子有FS的人对你的孩子有不同的看法”显著下降（p<0.010, p = 0.013和p = 0.038）。有FS病史的家长在第一季度的PSS评分显著高于有FS首次发作的家长（p = 0.029）（n = 161）。在第1问（n = 161）和第2问（n = 52）中，对FS有一定了解的家长比不了解FS的家长更能恰当地应对FS攻击（p<0.001）。结论儿童FS发作3个月后，家长的压力和耻辱感有一定程度的减轻。复发性FS可引起短暂的亲代耻辱感。在经历第一次FS发作之前，适当的关于正确管理的教育可能是重要的。

{"title":"Alleviating stress and perceived stigma in parents after febrile seizure in their children","authors":"Takuya Tanabe , Mitsuru Kashiwagi , Motoko Ogino , Chizu Oba , Yuki Iai , Chihiro Yamamoto , Tetsuo Kubota , Hideaki Kanemura","doi":"10.1016/j.braindev.2025.104445","DOIUrl":"10.1016/j.braindev.2025.104445","url":null,"abstract":"<div><h3>Objectives</h3><div>Febrile seizure (FS) is a worrisome event for parents. This study aimed to investigate how stress and perceived stigma are alleviated after experience FS in their children.</div></div><div><h3>Methods</h3><div>Parents who visited hospitals because of FS exhibited by their children were invited to participate this study. One hundred and sixty-one parents answered the questionnaire (1st Q); among them, 52 parents answered the same questionnaire (2nd Q) after 3 months. The questionnaire consisted of the Impact of Event Scale-Revised (IES-R) and the Parent Stigma Scale (PSS). The scores between the 1st Q and 2nd Q were compared with 52 participants who answered both questionnaires.</div></div><div><h3>Results</h3><div>The median value of the IES-R total score was 11, and 20 participants showed >24 in the 1st Q (<em>n</em> = 161). IES-R subscales of Intrusion and Hyperarousal symptoms and one item of PSS, “people who know your children have a FS treat your children differently”, decreased significantly (<em>p</em><0.010, <em>p</em> = 0.013 and <em>p</em> = 0.038, respectively) from the 1st Q (<em>n</em> = 52) to 2nd Q (n = 52). Parents with children having a past history of FS showed significantly higher PSS scores than parents with children having first FS episode (<em>p</em> = 0.029) in the 1st Q (<em>n</em> = 161). Parents who had some knowledge about FS could deal significantly more appropriately with FS attacks compared with those who had no prior knowledge (<em>p</em><0.001) in both the 1st Q (<em>n</em> = 161) and 2nd Q (<em>n</em> = 52).</div></div><div><h3>Conclusions</h3><div>Stress and stigma in parents were reduced to some extent 3 months after the FS attacks in their children. Recurrent FS can cause a transient perception of parental stigma. Appropriate education regarding correct management before experiencing the first episode of FS may be important.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104445"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145105043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

MiR-497/PLD regulation contributes to cognitive dysfunction in neonatal rats after repeated sevoflurane exposure MiR-497/PLD调控有助于七氟醚反复暴露后新生大鼠的认知功能障碍

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-05 DOI: 10.1016/j.braindev.2025.104409

Yuanyuan Que , Xingtao Chen , Dawei Liao , Duwen Zhang , Deliang Zeng

Background

Repeated sevoflurane exposure during early development can induce neurotoxic effects. MicroRNAs (miRNAs) are critical regulators of gene expression, playing essential roles in neural development and function, but their exact mechanisms remain unclear. This study investigates the role of the miR-497/Phospholipase D1(PLD1) axis, which is involved in neuronal differentiation and survival, in mediating the neurotoxic effects of repeated sevoflurane anesthesia.

Methods

Neonatal rats were treated with sevoflurane repeatedly. The expression levels of miR-497 in the rat hippocampi were assessed using qRT-PCR, and neuronal apoptosis was detected by TUNEL assay. PLD1 was predicted and confirmed as a target of miR-497. The regulatory relationship between PLD1 and miR-497 in primary neuronal cells was determined using luciferase reporter assays and Western blot. Immunohistochemistry was employed to examine PLD1 expression. A rescue experiment was performed to confirm the involvement of the miR-497/PLD1 pathway in sevoflurane-induced neurotoxicity. Cognitive performance was evaluated using Moris water maze.

Results

We identified the miR-497/PLD1 axis as the central mediator of sevoflurane-induced neurotoxicity. Repeated sevoflurane exposure triggered a striking upregulation of hippocampal miR-497, which directly targeted the 3′-UTR of PLD1 to suppress its expression. Functional validation demonstrated that miR-497 inhibition rescued neuronal injury and apoptosis, whereas silencing PLD1 abolished the neuroprotective effects of miR-497 suppression, establishing PLD1 as the indispensable downstream effector of miR-497.

Conclusions

Our study provides the first evidence that dysregulation of the miR-497/PLD1 axis drives sevoflurane-related newborn cognitive deficits. This mechanistic insight advances our understanding of anesthetic neurotoxicity, while targeting this newly identified axis may represent a novel therapeutic strategy to counteract anesthesia-associated neurodevelopmental risks.

背景：在发育早期反复接触七氟醚可诱发神经毒性作用。MicroRNAs （miRNAs）是基因表达的关键调控因子，在神经发育和功能中起着重要作用，但其确切机制尚不清楚。本研究探讨了参与神经元分化和存活的miR-497/磷脂酶D1（PLD1）轴在介导七氟醚麻醉的神经毒性作用中的作用。方法用七氟醚反复给药。采用qRT-PCR检测miR-497在大鼠海马中的表达水平，TUNEL法检测神经元凋亡。预测并证实PLD1是miR-497的靶标。利用荧光素酶报告基因检测和Western blot检测原代神经元细胞中PLD1和miR-497的调控关系。免疫组化检测PLD1表达。我们进行了一项救援实验来证实miR-497/PLD1通路参与七氟醚诱导的神经毒性。采用Moris水迷宫评估认知能力。结果我们发现miR-497/PLD1轴是七氟醚诱导的神经毒性的中枢介质。重复七氟醚暴露引发海马miR-497显著上调，直接靶向PLD1的3′-UTR抑制其表达。功能验证表明，miR-497抑制挽救了神经元损伤和凋亡，而沉默PLD1则消除了miR-497抑制的神经保护作用，从而确立了PLD1是miR-497不可缺少的下游效应物。我们的研究首次提供了miR-497/PLD1轴失调驱动七氟醚相关新生儿认知缺陷的证据。这种机制的洞察力推进了我们对麻醉神经毒性的理解，而针对这个新发现的轴可能代表一种新的治疗策略，以抵消麻醉相关的神经发育风险。

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引用次数: 0

Erratum regarding previously published articles 关于以前发表的文章的勘误。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-29 DOI: 10.1016/j.braindev.2025.104430

引用次数: 0

Recognizing ataxia requiring intervention: a retrospective cohort study of poor prognostic factors in pediatric emergency department patients 识别需要干预的共济失调：儿科急诊科患者预后不良因素的回顾性队列研究

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-25 DOI: 10.1016/j.braindev.2025.104428

Tsuyoshi Aihara , Shunsuke Amagasa , Itaru Hayakawa , Yuichi Abe , Satoko Uematsu

Purpose

We aimed to explore the potential prognostic factors associated with poorer outcomes in pediatric patients presenting with acute-onset ataxia to guide early intervention.

Methods

This single-center retrospective cohort study was conducted at the National Center for Child Health and Development between January 2014 and May 2024. Pediatric patients aged 0–18 years who presented with acute-onset ataxia within 7 days of symptom onset were included, excluding those with pre-diagnosed causes of ataxia. Patients were divided into two groups based on their final diagnosis and prognosis: the benign acute cerebellar ataxia (ACA) group for low-risk patients and the clinically urgent neurological pathology (CUNP) group for high-risk patients. Statistical analyses, including chi-square tests and multivariate logistic regression, were performed to identify prognostic factors.

Results

In total, 59 children were included: 34 in the benign ACA group and 25 in the CUNP group. Univariate analysis showed significant differences in headache, vomiting, tremors or dysmetria, age ≥ 5 years, and symptom persistence beyond 3 days between the two groups. Multivariate analysis indicated that age ≥ 5 years (odds ratio [OR] 22.2, 95 % confidence interval [CI] 1.8–640.2) and symptom persistence over 3 days (OR 8.1, 95 % CI 1.5–68.6) were significantly associated with poorer outcomes.

Conclusion

Pediatric patients aged ≥5 years with symptoms persisting for more than 3 days are more likely to require treatment or develop sequelae. Early diagnostic evaluation is important in such cases to avoid delayed intervention.

目的探讨急性发作性共济失调患儿预后不良的潜在影响因素，为早期干预提供指导。方法2014年1月至2024年5月在国家儿童健康与发展中心进行单中心回顾性队列研究。0-18岁的儿童患者在症状出现后7天内出现急性发作性共济失调，不包括那些预先诊断为共济失调原因的患者。根据最终诊断和预后将患者分为两组：低危患者为良性急性小脑性共济失调（ACA）组，高危患者为临床紧急神经病理学（CUNP）组。统计分析，包括卡方检验和多元逻辑回归，以确定预后因素。结果共纳入59例患儿：良性ACA组34例，CUNP组25例。单因素分析显示，两组患者在头痛、呕吐、震颤或认知障碍、年龄≥5岁、症状持续时间超过3天等方面存在显著差异。多因素分析显示，年龄≥5岁（比值比[OR] 22.2, 95%可信区间[CI] 1.8-640.2）和症状持续时间超过3天（比值比[OR] 8.1, 95%可信区间[CI] 1.5-68.6）与预后较差显著相关。结论年龄≥5岁且症状持续3天以上的儿童患者更容易需要治疗或出现后遗症。在这种情况下，早期诊断评估是重要的，以避免延迟干预。

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引用次数: 0

Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes 由肌肉乙酰胆碱受体基因引起的先天性肌无力综合征的临床和遗传特征

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-10-01 Epub Date: 2025-08-05 DOI: 10.1016/j.braindev.2025.104412

Jing Guan , Min Zhang , Chaoping Hu , Lei Zhao , Linmei Zhang , Xihua Li , Yi Wang , Shuizhen Zhou , Wenhui Li

Objective

The adult nicotinic acetylcholine receptor in muscle is a pentameric complex composed of four transmembrane subunits, and these are encoded by CHRNA1, CHRNB1, CHRND, and CHRNE, respectively. There were only a few case reports of congenital myasthenic syndromes due to CHRNA1, CHRNB1, and CHRND. We aimed to share phenotypic and genotypic features of the patients.

Methods

The clinical features, genetic variants, treatment, and follow-up of congenital myasthenic syndromes patients due to CHRNA1, CHRNB1, CHRND and CHRNE were retrospectively reviewed. In addition, a questionnaire-based survey using pediatric quality of life inventory 3.0 neuromuscular module (PedQL™3.0NMM) was conducted on the caregivers.

Results

Fourteen patients were enrolled in this study. The variants in CHRNE were the most prevalent (42.9 %), followed by variants in CHRNA1(21.4 %), CHRND (21.4 %), and CHRNB1 (14.3 %), respectively. Symptoms presented at birth in 10 patients (71.4 %) and during infancy in the remaining four patients (28.6 %). The patients due to CHRNA1, CHRNB1, and CHRND had an earlier onset(p = 0.01). The initial clinical feature in 6 patients with CHRNE variants was ptosis. In the patients with CHRNA1, CHRNB1, and CHRND variants, the most common initial presentation was feeding difficulties in 6 of 8. Pyridostigmine was beneficial in 12 (92.3 %) patients. Salbutamol was then tried in 10 patients, and only two patients stopped it for no more effects. The mean score of PedQL™3.0 in 10 patients under therapy was 76.50 ± 11.66.

Conclusions

All patients had very early onset, and most had ocular, limb, and bulbar symptoms. The patients due to CHRNA1, CHRNB1, and CHRND had an early age at onset and more severe initial symptoms. Most of the patients got some benefit from therapy and had satisfactory results of the life quality survey.

目的肌肉成年烟碱乙酰胆碱受体是由四个跨膜亚基组成的五聚体复合体，分别由CHRNA1、CHRNB1、CHRND和CHRNE编码。由于CHRNA1、CHRNB1和CHRND引起的先天性肌无力综合征仅有少数病例报道。我们的目的是分享患者的表型和基因型特征。方法回顾性分析CHRNA1、CHRNB1、CHRND和CHRNE所致先天性肌无力综合征患者的临床特点、遗传变异、治疗及随访情况。此外，使用儿科生活质量量表3.0神经肌肉模块（PedQL™3.0 nmm）对护理人员进行问卷调查。结果14例患者入组。CHRNE变异最为普遍（42.9%），其次是CHRNA1变异（21.4%）、CHRND变异（21.4%）和CHRNB1变异（14.3%）。10例患者（71.4%）在出生时出现症状，其余4例患者（28.6%）在婴儿期出现症状。因CHRNA1、CHRNB1和CHRND引起的患者起病早（p = 0.01）。6例CHRNE变异患者的初始临床特征为上睑下垂。在CHRNA1、CHRNB1和CHRND变异的患者中，8例中有6例最常见的初始表现是进食困难。吡哆斯的明对12例（92.3%）患者有益。随后，10名患者试用了沙丁胺醇，只有两名患者因为不再有效果而停药。10例接受治疗的患者PedQL™3.0评分平均为76.50±11.66。结论所有患者均起病很早，多数有眼、肢、球症状。CHRNA1、CHRNB1和CHRND所致患者起病年龄早，首发症状较重。大多数患者在治疗中获得了一定的益处，生活质量调查结果令人满意。

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引用次数: 0