Brain & Development最新文献

英文中文

Response to the letter to the editor titled “diagnostic clarification and exclusion of differential diagnoses in pediatric acute encephalopathy” regarding: “National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study” 回复关于“日本儿童急性脑病国家研究（2020年4月至2023年10月）：来自第三项研究的见解”的题为“儿科急性脑病诊断澄清和鉴别诊断排除”的致编辑的信

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-15 DOI: 10.1016/j.braindev.2025.104432

Taku Omata, Jun-ichi Takanashi

引用次数: 0

Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements 与早期婴儿自发运动特征相关的脑形态学和围产期背景因素的检查

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-11 DOI: 10.1016/j.braindev.2025.104433

Nanae Kawano, Tomoki Maeda, Osamu Kobayashi, Masanori Inoue, Kenji Ihara

Aim

To clarify the association between characteristics of early infantile general movements (GMs) and clinical background factors, including brain morphological characteristics, in very-low-birth-weight infants (VLBWIs).

Methods

GMs were scored using the motor optimality score revised (MOS-R) at a post-term age of 9–20 weeks. The MOS-R is composed of the following five subscales: quality of fidgety movements (Quality FMs), movement patterns (MP), age-adequate movement repertoire (AMR), postural patterns (PP), and movement character (MC). Brain magnetic resonance imaging (MRI) at term-equivalent age was scored using a validated scoring system (MRI score). Factors affecting the MOS-R were investigated using a multiple regression analysis.

Subjects

Ninety-five VLBWIs managed at Oita University Hospital in 2012–2023, who underwent brain MRI and GMs assessment, were included. The median gestational age at birth and birth weight were 28 weeks, 6 days and 997 g, respectively.

Results

The multiple regression analysis revealed that MRI score, patent ductus arteriosus (PDA) drug therapy, and sex were associated with MOS-R. In an analysis using the MOS-R subscales as dependent variables, Quality FMs were associated with MRI score and sex; MP was associated with MRI score; AMR was associated with PDA drug therapy, sex, and postnatal steroid use; PP was associated with height at the estimated date of confinement (EDC); and MC was associated with PDA drug therapy and body weight at EDC.

Conclusion

MOS-R is associated with brain morphological development. Its subscales are influenced by different clinical factors.

目的探讨极低出生体重儿（VLBWIs）早期婴儿全身运动（GMs）特征与临床背景因素（包括脑形态学特征）之间的关系。方法采用改良运动最优性评分法（MOS-R）对产后9 ~ 20周龄大鼠进行运动最优性评分。MOS-R由以下五个分量表组成：坐立不安运动质量（quality FMs）、运动模式（MP）、适龄运动曲目（AMR）、姿势模式（PP）和运动特征（MC）。使用经过验证的评分系统（MRI评分）对学期等效年龄的脑磁共振成像（MRI）进行评分。采用多元回归分析探讨影响MOS-R的因素。受试者纳入2012-2023年在大分大学医院管理的95例VLBWIs，这些患者接受了脑MRI和GMs评估。出生时的中位胎龄和出生体重分别为28周、6天和997 g。结果多元回归分析显示，MRI评分、动脉导管未闭（PDA）药物治疗、性别与MOS-R相关。在使用MOS-R亚量表作为因变量的分析中，质量FMs与MRI评分和性别相关；MP与MRI评分相关；AMR与PDA药物治疗、性别和产后类固醇使用有关；PP与估计分娩时的身高（EDC）相关；MC与PDA药物治疗和EDC体重相关。结论mos - r与脑形态发育有关。其亚量表受不同临床因素的影响。

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引用次数: 0

Parenting stress in autism spectrum disorder: A comparative analysis with other developmental disabilities 自闭症谱系障碍的父母压力：与其他发育障碍的比较分析

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-08 DOI: 10.1016/j.braindev.2025.104436

Jung Sook Yeom , Young-Soo Kim

Objective

To compare parenting stress between parents of children with autism spectrum disorder (ASD) and other developmental disabilities (DDs) and to examine ASD's influence on parenting stress through mediation analysis.

Methods

We retrospectively analyzed 48 children with ASD (ASD group) and 77 with non-ASD DDs (non-ASD group), along with one of their parents, at the Gyeongsang National University Hospital between May 2021 and August 2024. All underwent developmental assessments and completed the Korean version of the Parenting Stress Index-4 and the Child Interactive Behavior Test (CIBT).

Results

The ASD group's median age was 37.5 months, with 37 boys (77.1 %). No significant difference was found in child age, sex, or parental demographics between the groups. Total parenting stress was significantly higher in the ASD group (p = 0.01), primarily due to higher child domain scores (p<0.01) than in the non-ASD group. Among the child domain subscales, Distractibility/Hyperactivity, Adaptability, Reinforces Parent, and Acceptability were significantly higher in the ASD group, while only the Attachment subscale differed in the parent domain. For high parenting stress (>85th percentile), Initiative Interaction—a CIBT subscale—was the only independent predictor, rather than ASD diagnosis. Mediation analysis showed no direct effect of ASD on parenting stress (β = 4.28, p = 0.42) but an indirect effect via reduced initial interaction (β = 3.68, p<0.05).

Conclusions

Parenting stress was higher in the ASD group, mainly due to child-related factors. ASD influenced parenting stress indirectly through reduced initiative interaction. These findings provide further insight into parenting stress in families of children with ASD.

目的比较自闭症谱系障碍（ASD）和其他发育障碍（dd）患儿父母的育儿压力，并通过中介分析探讨ASD对育儿压力的影响。方法回顾性分析2021年5月至2024年8月在庆尚国立大学医院收治的48例ASD患儿（ASD组）和77例非ASD患儿（非ASD组）及其父母。所有人都接受了发展评估，并完成了韩国版的养育压力指数-4和儿童互动行为测试（CIBT）。结果ASD组中位年龄为37.5个月，男孩37例（77.1%）。两组之间在儿童年龄、性别或父母人口统计数据方面没有发现显著差异。ASD组的总育儿压力显著高于非ASD组（p = 0.01），主要是由于儿童领域得分高于非ASD组（p = 0.01）。在儿童领域的子量表中，注意力分散/多动、适应性、强化父母和可接受性显著高于ASD组，而只有依恋子量表在父母领域存在差异。对于高养育压力（第85百分位），主动互动（CIBT子量表）是唯一的独立预测因子，而不是ASD诊断。中介分析显示，ASD对养育压力无直接影响（β = 4.28, p = 0.42），但通过减少初始互动产生间接影响（β = 3.68, p<0.05）。结论ASD组家长压力较高，主要与儿童相关因素有关。ASD通过减少主动互动间接影响养育压力。这些发现为自闭症儿童家庭的养育压力提供了进一步的见解。

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引用次数: 0

Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances 福山先天性肌营养不良症：临床特征和治疗进展

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-06 DOI: 10.1016/j.braindev.2025.104437

Keiko Ishigaki , Mariko Taniguchi-Ikeda

Fukuyama congenital muscular dystrophy (FCMD, a severe form of muscular dystrophy characterized by brain structural anomalies and ocular complications due to neuronal migration disorders, is notably limited mainly to Japan. Ninety percent of patients are unable to walk throughout their lives and die before the age of 20 due to respiratory failure and cardiomyopathy. At present, there is no cure. The founder variant, a 3-kb insertion in FKTN, is an SVA (SINE-VNTR-Alu) retrotransposon, and FCMD is a splicing disorder attributable the exon trapping function of this retrotransposon. A splicing modulation therapy targeting exon-trapping based on using antisense nucleic acids to block abnormal splicing is under development, and clinical trials have begun. Additionally, it was clarified that the gene product of FKTN is a glycosyltransferase that transfers ribitol-5-phosphate from cytidine diphosphate ribitol, a precursor for the synthesis of the O-mannosyl glycans of α-dystroglycan, a cell membrane component. This finding raises hopes for a prodrug therapy. Though patient numbers were small, previous clinical studies suggested that steroids are effective in FCMD. Thus, phase II clinical trials are underway with the aim of obtaining insurance approval. This review provides an overview of the clinical course and current status of treatments being developed for FCMD.

福山先天性肌营养不良症（Fukuyama congenital muscular dystrophy， FCMD）是一种严重的肌肉营养不良症，其特征是大脑结构异常和由神经元迁移障碍引起的眼部并发症，值得注意的是，主要局限于日本。90%的患者一生无法行走，在20岁之前因呼吸衰竭和心肌病而死亡。目前还没有治疗方法。FKTN中一个3 kb的插入，是一个SVA （sin - vntr - alu）反转录转座子，而FCMD是一种可归因于该反转录转座子的外显子捕获功能的剪切紊乱。基于反义核酸阻断异常剪接的靶向外显子捕获的剪接调节疗法正在开发中，并已开始临床试验。此外，FKTN的基因产物是一种糖基转移酶，可将胞苷二磷酸核糖糖醇转化为5-磷酸核糖糖醇，而胞苷二磷酸核糖糖醇是合成α-三磷酸糖聚糖（一种细胞膜成分）的o -甘露糖基聚糖的前体。这一发现为药物前治疗带来了希望。虽然患者人数很少，但先前的临床研究表明，类固醇对口蹄疫有效。因此，II期临床试验正在进行中，目的是获得保险批准。本综述概述了口蹄疫的临床过程和目前正在开发的治疗方法。

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引用次数: 0

Integrating optical and behavioral measures in fNIRS visual search studies fNIRS视觉搜索研究中光学和行为测量的集成

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-06 DOI: 10.1016/j.braindev.2025.104438

Muhammad Mudasir Atif , Rohin Kumar

引用次数: 0

Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances 低髓鞘性脑白质营养不良：从分子机制到临床进展

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-06 DOI: 10.1016/j.braindev.2025.104426

Hitoshi Osaka , Ken Inoue

Hypomyelinating leukodystrophies (HLDs) are a group of inherited disorders characterized by impaired myelin formation in the central nervous system. Among them, Pelizaeus-Merzbacher disease (PMD) is a well-defined X-linked leukodystrophy caused by mutations in the PLP1 gene, including duplications, missense variants, and null mutations. Recent studies have revealed that different types of PLP1 mutations lead to distinct pathomechanisms: while missense mutations induce endoplasmic reticulum stress and activate the unfolded protein response (UPR), PLP1 duplications cause aberrant intracellular trafficking and cholesterol accumulation without UPR activation. Additionally, mutations in other genes such as GJC2, SOX10, TUBB4A, and POLR3A/B have been implicated in various forms of HLD, each with unique clinical and imaging features. Advances in neuroimaging and next-generation sequencing have enabled more accurate and earlier diagnosis, expanding the clinical spectrum and deepening our understanding of disease mechanisms. This review summarizes the current knowledge on the molecular pathogenesis, genotype–phenotype correlations, and diagnostic approaches in HLDs, with an emphasis on recent biological insights that may inform future therapeutic strategies.

低髓鞘性白质营养不良症（hld）是一组以中枢神经系统髓鞘形成受损为特征的遗传性疾病。其中，Pelizaeus-Merzbacher病（PMD）是由PLP1基因突变引起的一种定义明确的x连锁白质营养不良，包括重复、错义变异体和零突变。最近的研究表明，不同类型的PLP1突变导致不同的病理机制：错义突变诱导内质网应激并激活未折叠蛋白反应（UPR）， PLP1重复导致异常的细胞内运输和胆固醇积累，而不会激活UPR。此外，GJC2、SOX10、TUBB4A和POLR3A/B等其他基因的突变与各种形式的HLD有关，每种基因都具有独特的临床和影像学特征。神经影像学和下一代测序技术的进步使更准确、更早期的诊断成为可能，扩大了临床范围，加深了我们对疾病机制的理解。本文综述了目前关于hld的分子发病机制、基因型-表型相关性和诊断方法的知识，重点介绍了最近的生物学见解，这些见解可能为未来的治疗策略提供信息。

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引用次数: 0

Understanding Cancer risk in severe motor and intellectual disabilities: The role of external influences 了解严重运动和智力残疾的癌症风险：外部影响的作用

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-09-06 DOI: 10.1016/j.braindev.2025.104439

Christian Messina

引用次数: 0

Unpacking the genetic landscape of epilepsy: key considerations for future research and clinical translation 解开癫痫的遗传景观：未来研究和临床翻译的关键考虑因素

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-08-30 DOI: 10.1016/j.braindev.2025.104429

Junlong Chen , Tianle Zheng , Jialin Liu

引用次数: 0

Reply to: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis” 回复：“nusinersen治疗0型脊髓性肌萎缩症1例，无早发性脊柱侧凸进展”

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-08-29 DOI: 10.1016/j.braindev.2025.104431

Tomokazu Kimizu , Saki Yokawa , Keiko Yanagihara

引用次数: 0

Reply to the “letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’” 回复“致编辑的信：杜氏肌营养不良症胃肠道并发症的患病率和治疗：一项回顾性队列研究”

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-08-28 DOI: 10.1016/j.braindev.2025.104427

Yu Aihara , Eri Takeshita , Hirofumi Komaki

引用次数: 0

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