Brain & Development最新文献

Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan. 夏-吉布斯综合征患者的临床和分子特征：日本的一个队列。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-06 DOI: 10.1016/j.braindev.2026.104509

Hironao Shirai, Yoshiki Oitani, Eriko Nishi, Kohei Haraguchi, Takuji Nakamura, Fumio Ichinose, Masafumi Sanefuji, Ayako Hattori, Kumiko Yanagi, Keiko Shimojima Yamamoto, Nobuhiko Okamoto, Muneaki Matsuo, Shinji Saitoh, Koh-Ichiro Yoshiura, Tadashi Kaname, Toshiyuki Yamamoto

Background: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif containing 1 (AHDC1) gene. More than 100 patients with XGS have been reported. In this study, we describe the findings from a Japanese cohort of patients with XGS. To enhance understanding, we also conducted a systematic literature review of XGS.

Methods: We collected clinical and genetic information from seven new Japanese patients with XGS which were diagnosed through comprehensive genetic analysis. A systematic literature review was also conducted using PubMed.

Results: All Japanese patients carried premature truncation variants or deletions. The core clinical features were global developmental delay and hypotonia, which were consistent with those observed in the 106 previously reported patients identified in our literature review. In one patient with a frameshift variant, escape from nonsense-mediated mRNA decay was confirmed using the patient's sample.

Conclusion: The clinical and molecular profiles of Japanese patients with XGS were analyzed and compared with those of previously reported patients from other countries, confirming the consistent characteristics of XGS. This study provides direct evidence of nonsense-mediated mRNA decay escape. A comprehensive understanding of this expanding phenotype is crucial for accurate diagnosis and management.

背景：Xia-Gibbs综合征（XGS）是一种罕见的神经发育障碍，由含有1的at钩DNA结合基序（AHDC1）基因的致病性变异引起。据报道，已有100多例XGS患者。在这项研究中，我们描述了来自日本XGS患者队列的研究结果。为了加深了解，我们还对XGS进行了系统的文献综述。方法：收集经综合遗传分析确诊的7例日本新发XGS患者的临床和遗传资料。使用PubMed进行了系统的文献综述。结果：所有日本患者都携带过早截断变异或缺失。核心临床特征是全面发育迟缓和肌张力低下，这与我们在文献综述中发现的106例先前报道的患者的观察结果一致。在一名移码变异的患者中，通过患者的样本证实了无义介导的mRNA衰变的逃逸。结论：对日本XGS患者的临床和分子特征进行了分析，并与其他国家先前报道的患者进行了比较，证实了XGS的一致性特征。本研究提供了无义介导的mRNA衰变逃逸的直接证据。全面了解这种不断扩大的表型对于准确诊断和管理至关重要。

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引用次数: 0

A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells 在Neuro2A细胞中，一种脂化抑制剂可拯救由与Takenouchi-Kosaki综合征相关的CDC42突变引起的神经突生长受损。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 DOI: 10.1016/j.braindev.2026.104503

Etsuko Daimon , Yukinao Shibukawa , Natsuko Yamazaki , Masanobu Kawai , Saori Kinoshita , Nobuhiko Okamoto

Background

Takenouchi-Kosaki syndrome (TKS), caused by the CDC42 c.191A>G (p.Tyr64Cys; Y64C) variant, characterized by a range of clinical manifestations, including developmental delay with intellectual disability (ID). While CDC42 is essential for neurogenesis, the mechanisms by which the Y64C mutation contributes to the neurological impairments observed in TKS patients remain unclear.

Objective

This study aimed to investigate the functional impact of ectopically expressing the Y64C variant on the neurite outgrowth of neuroblastoma cells, Neuro2A.

Methods

Neuro2A cells were transfected with the Y64C variant to assess changes in neurite outgrowth and cellular morphology. The cells were also treated with a lipidation inhibitor, GGTI-298, or CDC42 activity inhibitor, ML141 to evaluate its ability to ameliorate the mutation-induced phenotypes. Whole transcriptome sequencing and differentially expressed gene (DEG) analysis were performed between WT- and Y64C-expressing cells.

Results

The overexpression of the Y64C variant impaired neurite outgrowth and changed the cell morphology of Neuro2A cells. Both the neurite outgrowth defect and the enhanced membrane localization induced by Y64C overexpression were restored by GGTI-298 treatment but not by ML141. To explore the molecular basis of these phenotypes, we performed DEG analysis and identified 32 upregulated and 19 downregulated genes, including Smarca1. Consistent with the transcriptomic findings, Smarca1 protein expression was decreased in Y64C-expressing cells in comparison to WT. Treatment with GGTI-298 effectively preserved Smarca1 levels, whereas ML141 reduced its expression in both WT- and Y64C-expressing cells.

Conclusions

The Y64C variant disrupts neurite outgrowth, attributable to altered CDC42 activity and localization. The restoration of neurite outgrowth by GGTI-298 highlights the importance of CDC42 signaling for neurite outgrowth in Neuro2A cells. Our findings raise the possibility that molecular disruptions caused by the Y64C mutation may contribute to the brain malformations and neurodevelopmental features observed in TKS.

背景：Takenouchi-Kosaki综合征（TKS）由CDC42 c.191A>G （p.Tyr64Cys; Y64C）变异引起，以一系列临床表现为特征，包括发育迟缓伴智力残疾（ID）。虽然CDC42对神经发生至关重要，但在TKS患者中观察到的Y64C突变导致神经损伤的机制尚不清楚。目的：本研究旨在探讨异位表达Y64C变异对神经母细胞瘤细胞Neuro2A神经突生长的功能影响。方法：用Y64C变异体转染神经2a细胞，评估神经突生长和细胞形态的变化。细胞也用脂化抑制剂GGTI-298或CDC42活性抑制剂ML141处理，以评估其改善突变诱导表型的能力。在WT-和y64c表达细胞之间进行全转录组测序和差异表达基因（DEG）分析。结果：Y64C变异体的过表达损害了神经突的生长，改变了神经2a细胞的细胞形态。GGTI-298处理能恢复Y64C过表达引起的神经突生长缺陷和膜定位增强，而ML141处理不能。为了探索这些表型的分子基础，我们进行了DEG分析，鉴定出32个上调基因和19个下调基因，包括Smarca1。与转录组学结果一致，与WT相比，Smarca1蛋白在表达y64c的细胞中表达降低。GGTI-298有效地保持了Smarca1蛋白的水平，而ML141在表达WT和y64c的细胞中均降低了其表达。结论：Y64C变异体破坏神经突生长，可归因于CDC42活性和定位的改变。GGTI-298对神经突生长的恢复突出了CDC42信号在Neuro2A细胞神经突生长中的重要性。我们的研究结果提出了由Y64C突变引起的分子破坏可能导致TKS中观察到的脑畸形和神经发育特征的可能性。

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引用次数: 0

Pediatric neuromyelitis optica spectrum disorders in Dakar: Insights from a preliminary multicentric case series in Senegal 达喀尔儿童视神经脊髓炎谱系障碍：来自塞内加尔初步多中心病例系列的见解

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 DOI: 10.1016/j.braindev.2026.104505

Ndiaga Matar Gaye , Rokhaya Diagne , Khalifa Ababacar Mbaye , Alice Ingabiré Goumba , Marie Emilie Ndong , Seynabou Dieng , Adjaratou Dieynabou Sow , El Hadji Makhtar Ba , Moustapha Ndiaye

Aim

To describe the epidemiological, diagnostic, therapeutic, and outcome aspects of pediatric neuromyelitis optica spectrum disorders (NMOSD) in Dakar, Senegal.

Methods

We conducted a multicenter retrospective and prospective study including patients with pediatric-onset NMOSD (<18 years) diagnosed according to the 2015 Wingerchuk criteria.

Results

Over 7 years and 3 months, 8 children (7 females) were included, with a median age at symptom onset of 13.5 years (range 8–17). The main neurological manifestations during the disease course were myelitis (7/8), optic neuritis (5/8), and area postrema syndrome (4/8). Brain magnetic resonance imaging revealed nonspecific white matter abnormalities in 2 patients. Anti-aquaporin 4 antibodies were positive in 6 patients. Cerebrospinal fluid analysis, performed in 4 patients, showed lymphocytic pleocytosis in 2 of them (72 and 17 cells/mm³). All patients received prednisone; 7 also received azathioprine. After a median follow-up of 26.5 months, the mean Expanded Disability Status Scale was 4.44. Six patients had a relapsing-remitting course, with a median time to second relapse of 3 months (range 2–6).

Conclusion

This preliminary study highlights the clinical heterogeneity, female predominance, and frequent AQP4-IgG positivity of pediatric NMOSD in Senegal, broadly comparable to international cohorts. However, diagnostic delays, limited access to intensive therapies, and significant disability were observed, underscoring regional disparities in treatment and prognosis and the need for earlier diagnosis and improved access to effective therapies to optimize outcomes in sub-Saharan Africa.

目的描述塞内加尔达喀尔儿童视谱神经脊髓炎（NMOSD）的流行病学、诊断、治疗和预后。方法我们开展了一项多中心回顾性和前瞻性研究，纳入了根据2015年Wingerchuk标准诊断的儿科发病NMOSD（18岁）患者。结果7岁零3个月，8名儿童（7名女性）被纳入，症状发作时的中位年龄为13.5岁（范围8 - 17岁）。病程中主要的神经学表现为脊髓炎（7/8）、视神经炎（5/8）和后脑区综合征（4/8）。2例脑磁共振成像显示非特异性白质异常。6例患者抗水通道蛋白4抗体阳性。对4例患者进行脑脊液分析，其中2例显示淋巴细胞增多症（72和17个细胞/mm3）。所有患者均接受强的松治疗；7人同时接受硫唑嘌呤治疗。中位随访26.5个月后，平均扩展残疾状态量表为4.44。6例患者的复发缓解过程，到第二次复发的中位时间为3个月（范围2-6）。结论本初步研究突出了塞内加尔儿童NMOSD的临床异质性、女性优势和AQP4-IgG频繁阳性，与国际队列大致相当。然而，诊断延误、获得强化治疗的机会有限以及严重残疾的情况也被观察到，这突出了撒哈拉以南非洲地区在治疗和预后方面的地区差异，以及需要更早诊断和改善获得有效治疗的机会，以优化结果。

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引用次数: 0

New Year's Greetings. 恭贺新年。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2026-01-01 DOI: 10.1016/j.braindev.2025.104495

引用次数: 0

Erratum to "Does in utero exposure to antiseizure medications affect the trajectory of cognitive development from 2 to 6 years of age?" [Brain Dev. 48(1) (2026) 104487]. “子宫内接触抗癫痫药物会影响2 - 6岁儿童的认知发展轨迹吗？”[j].神经科学进展，2016,32(1)(2026):104487。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2025-12-24 DOI: 10.1016/j.braindev.2025.104496

Susanna Stjerna, Lina-Maria Hämäläinen, Mari Videman

引用次数: 0

A scoping review of functional near-infrared spectroscopy studies of reading development in children aged 6-12. 6-12岁儿童阅读发展的功能近红外光谱研究综述。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-01-31 DOI: 10.1016/j.braindev.2026.104507

Devon A Bode, Saisha S Rankaduwa, Laura M Elliott, Aaron J Newman

Significance: Functional near-infrared spectroscopy (fNIRS) offers several advantages for neuroimaging in children, yet its use in research on cognitive development, particularly reading, remains limited.

Aim: This scoping review focuses on fNIRS studies examining reading development in school-aged children (6-12 years), with four goals: (1) characterize methodological parameters, including stimuli and tasks; (2) identify brain regions showing fNIRS signal changes during reading and across development; (3) document technical fNIRS methods; (4) assess adherence to best practice in fNIRS reporting.

Approach: We searched PubMed, Embase, PsycINFO, Scopus, gray literature, and reference lists.

Results: Reading-related fNIRS activation was most frequently observed in the inferior frontal gyrus, superior temporal gyrus, and middle frontal gyrus. However, only seven studies directly examined developmental changes in reading using fNIRS. A consistent issue across studies was underreporting of technical methods and incomplete adherence to recommended best practices for fNIRS data collection and analysis.

Conclusions: To advance the field, future fNIRS research on reading development should (1) follow established reporting guidelines, (2) ensure adequate brain region coverage when designing probe arrays, and (3) prioritize longitudinal and developmental investigations to better capture changes in brain function during reading development.

意义：功能性近红外光谱（fNIRS）为儿童神经成像提供了一些优势，但其在认知发展，特别是阅读研究中的应用仍然有限。目的：本综述聚焦于学龄儿童（6-12岁）阅读发展的fNIRS研究，有四个目标：(1)表征方法参数，包括刺激和任务；(2)识别在阅读和跨发育过程中显示fNIRS信号变化的脑区；(3)记录fNIRS技术方法；(4)评估fNIRS报告中对最佳实践的遵守情况。方法：检索PubMed， Embase, PsycINFO, Scopus，灰色文献和参考文献列表。结果：阅读相关的fNIRS激活在额下回、颞上回和额中回最常见。然而，只有7项研究使用近红外光谱直接检测了阅读的发展变化。所有研究中一致存在的问题是对fNIRS数据收集和分析的技术方法的少报和对推荐的最佳实践的不完全遵守。结论：为了推进该领域的发展，未来的fNIRS阅读发展研究应该(1)遵循既定的报告准则，(2)在设计探针阵列时确保足够的脑区域覆盖，(3)优先考虑纵向和发育性研究，以更好地捕捉阅读发展过程中大脑功能的变化。

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引用次数: 0

Toward etiology-specific and radiomics-based approaches in cytotoxic lesions of the corpus callosum 胼胝体细胞毒性病变病因特异性和放射组学研究进展

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-01-31 DOI: 10.1016/j.braindev.2026.104506

Hasan Tekgül , Yavuz Ataş , Seda Kanmaz , Cenk Eraslan

引用次数: 0

Electroencephalogram abnormalities in children presenting with language development delay 以语言发展迟缓为表现的儿童的脑电图异常

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-01-21 DOI: 10.1016/j.braindev.2026.104504

Merve Yavuz , Feyza Gülağız , Aycan Ünalp , Pakize Karaoğlu , Ünsal Yılmaz

Background

EEG abnormalities are frequently reported in children with developmental language disorders, particularly in language-associated regions, though existing data remain inconsistent.

Aim

This study investigated the frequency, density, and localization of epileptiform discharges in children with language delays, and the incidence of epilepsy within a 12-month follow-up.

Method

A total of 132 children with language delay were evaluated. Ten later diagnosed with autism spectrum disorder were excluded, leaving 122 for analysis. Epileptiform discharges were assessed for frequency, localization, and spike-wave index (SWI). Clinical, demographic, neuroimaging, and developmental data were collected. Comparative analyses were performed between children with and without epileptiform discharges, and between those who did and did not develop epilepsy.

Results

The mean age at admission was 39.6 months, with boys comprising 73.8% of the cohort. Epileptiform discharges were present in 14 children (11.5%), predominantly in the temporoparietal region (83.3%), mostly right-sided or bilateral. Notably, no patient exhibited unilateral discharges on the left. Epilepsy developed in six children during follow-up, all of whom had epileptiform discharges on initial EEG. None with a normal baseline EEG developed epilepsy. Age, sex, parental consanguinity, or family history of language delay, epilepsy, or febrile seizures showed no significant differences between groups. Although SWI values increased significantly over one year, neither baseline SWI nor its temporal change was associated with the development of epilepsy.

Conclusion

EEG abnormalities and epilepsy are not rare in children with language delay. Those with epileptiform discharges on initial EEG require careful monitoring, as they carry a higher risk of developing epilepsy.

背景：尽管现有数据不一致，但在发育性语言障碍儿童中经常报道deeg异常，特别是在语言相关区域。目的探讨语言迟缓儿童癫痫样放电的频率、密度和局部性，以及随访12个月后癫痫的发生率。方法对132例语言迟缓儿童进行评估。10名后来被诊断为自闭症谱系障碍的人被排除在外，留下122名进行分析。评估癫痫样放电的频率、定位和峰波指数（SWI）。收集临床、人口统计学、神经影像学和发育数据。在有和没有癫痫样放电的儿童之间以及有和没有癫痫的儿童之间进行了比较分析。结果入院时平均年龄39.6个月，男孩占73.8%。癫痫样放电14例（11.5%），主要发生在颞顶区（83.3%），多发生在右侧或双侧。值得注意的是，没有患者表现出左侧单侧出院。随访期间有6例患儿出现癫痫，所有患儿初始脑电图均显示癫痫样放电。基线脑电图正常的患者均未发生癫痫。年龄、性别、父母亲属关系、语言迟缓、癫痫或热性惊厥家族史在组间无显著差异。虽然SWI值在一年内显著增加，但基线SWI及其时间变化与癫痫的发展无关。结论脑电图异常和癫痫在语言迟缓患儿中并不少见。初次脑电图显示癫痫样放电的患者需要仔细监测，因为他们患癫痫的风险较高。

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引用次数: 0

Neurocognitive profiles of attentional networks in children with Tic disorders 抽动障碍儿童注意网络的神经认知特征。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-01-17 DOI: 10.1016/j.braindev.2026.104502

Xinyu Yang , Xiaofei Ye , Dandan Zheng , Bin Yang

Objective

Tic disorders (TD) are childhood-onset neurodevelopmental conditions marked by sudden, rapid, recurrent motor and/or vocal tics. This study aimed to investigate attentional network functioning in children with TD using the Attention Network Test (ANT), which assesses alerting, orienting, and executive control.

Methods

Seventy-eight children with TD and 78 age-matched healthy controls were recruited. TD participants were classified into three subtypes: persistent motor/vocal tic disorder, provisional tic disorder, and Tourette syndrome (TS). All participants completed the ANT, and outcomes were analyzed for alerting, orienting, conflict effects, reaction time, and accuracy. Subgroup comparisons were also conducted based on TD subtype and Yale Global Tic Severity Scale (YGTSS) scores (≥30 vs <30).

Results

Compared to controls, children with TD showed significantly reduced orienting effects, longer reaction times, and lower accuracy (all P < 0.05). No group differences were observed in alerting or conflict effects. Subtype analyses revealed significant differences in reaction time and accuracy but not in attentional network effects. No significant ANT performance differences were found between severity subgroups.

Conclusion

Children with TD exhibit specific impairments in attentional networks, particularly in orienting function, along with slower responses and reduced accuracy. These findings highlight cognitive features of TD and support the use of ANT in neuropsychological assessment.

目的：抽动障碍（TD）是一种儿童期发病的神经发育疾病，其特征是突然、快速、反复的运动和/或声音抽搐。本研究旨在利用注意网络测试（Attention network Test， ANT）来研究TD儿童的注意网络功能，该测试评估了警报、定向和执行控制。方法：招募78名TD患儿和78名年龄匹配的健康对照。TD参与者被分为三种亚型：持续性运动/声音抽动障碍，暂时性抽动障碍和图雷特综合征（TS）。所有参与者都完成了ANT测试，并对结果进行了预警、定向、冲突效应、反应时间和准确性的分析。亚组比较也基于TD亚型和耶鲁全球抽搐严重程度量表（YGTSS）评分(≥30 vs结果：与对照组相比，TD儿童的定向效应显著降低，反应时间更长，准确性更低（所有P）结论：TD儿童在注意力网络方面表现出特异性损伤，特别是在定向功能方面，同时反应更慢，准确性降低。这些发现突出了TD的认知特征，并支持在神经心理学评估中使用ANT。

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引用次数: 0

The global research hotspots and future trends of infantile epileptic spasms syndrome: A bibliometric analysis of trends and themes 婴儿癫痫痉挛综合征全球研究热点及未来趋势：趋势与主题的文献计量学分析

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-01-16 DOI: 10.1016/j.braindev.2026.104500

Zhenzhen Wang , Danqing Hu , Xin Dong , Wei Zhou

Objective

This study aims to investigate research trends, key contributors, and emerging topics in the field of infantile epileptic spasms syndrome (IESS).

Methods

Publications on IESS from 1954 to 2024 were retrieved from the Web of Science Core Collection (WoSCC) database. Bibliometric analysis was performed using Microsoft Excel, VOSviewer, CiteSpace, and R version 4.3.3.

Results

A total of 2905 publications were identified, revealing a marked increase in research output from 2000 onward. The USA led with 760 publications. The University of California System was the most productive institution, contributing 420 papers. Epilepsia was the most influential journal, publishing 371 papers with 12,246 citations. Leading authors included Naomichi Matsumoto and Ingrid E. Scheffer. Keywords formed five thematic clusters: (1) genetic foundations and molecular mechanisms (e.g., “mutations”), (2) therapeutic strategies for seizure control (e.g., “ketogenic diet”), (3) epidemiological patterns and seizure classification (e.g., “classification”), (4) clinical practices and treatment outcomes (e.g., “vigabatrin”), and (5) brain structure and diagnostic imaging (e.g., “MRI”). Burst keyword analysis indicated a focus on terms including “encephalopathy”, “epileptic spasms”, “intellectual disability”, “ilae commission”, “hypsarrhythmia”, “classification”, “multicenter”, and “management”.

Conclusion

The findings highlight current hotspots spanning genetic mechanisms, therapeutic strategies, epidemiological patterns, clinical practices, and neuroimaging. Future research should optimize treatments, improve diagnostics, and address developmental impacts.

目的探讨婴儿癫痫性痉挛综合征（IESS）的研究趋势、主要贡献者和新兴课题。方法从Web of Science Core Collection （WoSCC）数据库中检索1954 ~ 2024年有关国际空间站的出版物。使用Microsoft Excel、VOSviewer、CiteSpace和R version 4.3.3进行文献计量学分析。结果共发现2905篇论文，显示了自2000年以来研究产出的显著增长。美国以760篇论文排名第一。加州大学系统是最多产的机构，发表了420篇论文。《癫痫病》是最具影响力的期刊，发表论文371篇，被引用12246次。主要作者包括Naomichi Matsumoto和Ingrid E. Scheffer。关键词形成了五个主题集群：(1)遗传基础和分子机制（如“突变”），(2)控制癫痫发作的治疗策略（如“生酮饮食”），(3)流行病学模式和癫痫发作分类（如“分类”），(4)临床实践和治疗结果（如“vigabatrin”），以及(5)脑结构和诊断成像（如“MRI”）。突发关键词分析显示，人们关注的关键词包括“脑病”、“癫痫性痉挛”、“智力残疾”、“ilae委员会”、“心律失常”、“分类”、“多中心”和“管理”。结论研究结果突出了当前的热点，包括遗传机制、治疗策略、流行病学模式、临床实践和神经影像学。未来的研究应优化治疗，提高诊断，并解决发展影响。

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引用次数: 0