Brain & Development最新文献

英文中文

Reply to the letter to the editor “Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges” 回复致编辑的信“杜氏肌营养不良症的基因治疗进展：被忽视的挑战”

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2025-12-03 DOI: 10.1016/j.braindev.2025.104489

Yuko Shimizu-Motohashi

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 : 2026-02-01 Epub 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

Reply to “Comment on ‘Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment’” 回复“关于‘存活运动神经元蛋白是评价利西泮治疗效果的最佳生物标志物’的评论”。

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2025-12-22 DOI: 10.1016/j.braindev.2025.104493

Tamaki Kato, Noriko Otsuki, Mamoru Yokomura, Kayoko Saito

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

Paediatric neurological care in Sub-Saharan Africa: Current status and future directions 撒哈拉以南非洲的儿科神经保健：现状和未来方向

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2025-12-10 DOI: 10.1016/j.braindev.2025.104490

Mabel Frimpong , Siham Mohamed , Miracle Olayeri Ibukun , Yaa Asieduwaa Owusu , Andrew Awuah Wireko

Paediatric neurology has evolved significantly since its early recognition as a subspecialty in the mid-20th century, though interest in childhood neurological conditions dates back centuries. In Sub-Saharan Africa (SSA), however, the field remains underdeveloped, despite a rising burden of neurological disorders such as epilepsy, cerebral palsy, cerebral malaria, autism spectrum disorder, and paediatric brain tumours. These conditions represent a significant proportion of paediatric morbidity and mortality in the region, yet limited epidemiological data, underdiagnosis, and health system constraints continue to obscure their true impact. Aetiological factors in SSA are diverse and include infectious diseases, perinatal complications, genetic disorders and environmental exposures. While countries such as South Africa, have made strides in diagnosis and care, progress remains uneven across the region. Structured training programmes like the African Paediatric Fellowship Programme and public engagement initiatives have contributed to capacity building, but most countries in the region still lack adequate specialist care, essential diagnostic tools such as electroencephalography and magnetic resonance imaging, and sustained investment in paediatric neurology infrastructure and epidemiological research. To address these gaps, this narrative review recommends expanding local training programmes, integrating task-shifting approaches to empower general practitioners and community health workers, and investing in clinical and epidemiological research. Equally critical is the need to strengthen health systems, improve access to diagnostic services, and promote inclusive, stigma reducing advocacy. Only through coordinated efforts can paediatric neurological care in SSA be advanced to meaningfully improve child health outcomes across the region. Thus, this narrative review explores the evident burdens of paediatric neurology care in SSA and proposes potential strategies to address these challenges.

尽管对儿童神经系统疾病的兴趣可以追溯到几个世纪前，但自20世纪中期作为一个亚专科被早期认可以来，儿科神经病学已经有了显著的发展。然而，在撒哈拉以南非洲（SSA），尽管癫痫、脑瘫、脑性疟疾、自闭症谱系障碍和儿科脑肿瘤等神经系统疾病的负担日益加重，但该领域仍然不发达。这些疾病占该地区儿科发病率和死亡率的很大比例，但流行病学数据有限、诊断不足和卫生系统的限制继续掩盖了它们的真正影响。SSA的病因多种多样，包括传染病、围产期并发症、遗传疾病和环境暴露。虽然南非等国家在诊断和护理方面取得了长足进步，但整个区域的进展仍然不平衡。非洲儿科研究金方案等结构化培训方案和公众参与倡议有助于能力建设，但该区域大多数国家仍然缺乏足够的专科护理、脑电图和磁共振成像等基本诊断工具，以及对儿科神经病学基础设施和流行病学研究的持续投资。为了解决这些差距，本综述建议扩大地方培训规划，整合任务转移方法以增强全科医生和社区卫生工作者的权能，并投资于临床和流行病学研究。同样重要的是需要加强卫生系统，改善获得诊断服务的机会，并促进包容性的减少污名的宣传。只有通过协调一致的努力，才能推进SSA的儿科神经保健，从而有意义地改善整个区域的儿童健康结果。因此，这篇叙述性综述探讨了SSA儿科神经病学护理的明显负担，并提出了应对这些挑战的潜在策略。

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引用次数: 0

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights 靶向基因面板检测在儿童癫痫：诊断结果和扩大遗传见解

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2026-02-01 Epub Date: 2026-01-09 DOI: 10.1016/j.braindev.2025.104498

Aslihan Sanri , Unal Akca , Mehmet Burak Mutlu , Ozlem Sezer , Emre Sanri , Taner Karakaya , Serkan Kurtgoz

Background

Epilepsy is a genetically heterogeneous disorder with a high burden in the pediatric population. Advances in next-generation sequencing (NGS) have enhanced molecular diagnosis, enabling more accurate subclassification and targeted interventions.

Objective

This study aimed to evaluate the diagnostic utility of epilepsy gene panel testing in a large pediatric cohort and to characterize the clinical and genetic features of molecularly diagnosed cases.

Methods

A retrospective analysis was conducted on 516 pediatric epilepsy patients who underwent targeted gene panel testing between 2021 and 2025 at a tertiary medical center. Only pathogenic and likely pathogenic variants were considered diagnostic.

Results

A molecular diagnosis was established in 81 patients (15.7 %). The most frequently implicated genes were KCNQ2, SCN1A, CACNA1A, SLC2A1, and SCN2A, collectively accounting for 43.2 % of all diagnoses. Despite this concentration, pathogenic variants were distributed across 37 different genes, emphasizing the high genetic heterogeneity. Most diagnosed patients had seizure onset in infancy, particularly within the first year of life. Notably, two-thirds of neonates with seizures had pathogenic KCNQ2 variants. Additionally, 23 of the diagnostic variants (29.9 %) were novel, underscoring the evolving spectrum of epilepsy-associated mutations.

Conclusion

Epilepsy gene panel testing is a valuable diagnostic tool in pediatric clinical practice. The identification of pathogenic variants across a wide range of genes — including a high proportion of novel mutations — supports the integration of genetic testing into the routine evaluation of pediatric epilepsy for improved etiological clarification and long-term management.

癫痫是一种遗传异质性疾病，在儿科人群中具有很高的负担。新一代测序技术（NGS）的进步增强了分子诊断，使更准确的亚分类和有针对性的干预成为可能。目的本研究旨在评估癫痫基因面板检测在一个大型儿科队列中的诊断效用，并描述分子诊断病例的临床和遗传特征。方法回顾性分析2021 ~ 2025年在某三级医疗中心接受靶向基因面板检测的516例小儿癫痫患者。只有致病的和可能致病的变异才被认为是诊断性的。结果81例（15.7%）患者均有sa分子诊断。最常涉及的基因是KCNQ2、SCN1A、CACNA1A、SLC2A1和SCN2A，总共占所有诊断的43.2%。尽管如此，致病变异分布在37个不同的基因上，强调了高度的遗传异质性。大多数确诊的患者在婴儿期发作癫痫，特别是在生命的第一年。值得注意的是，三分之二的癫痫患儿具有致病性KCNQ2变异。此外，23个诊断变异（29.9%）是新的，强调癫痫相关突变的演变谱。结论癫痫基因面板检测是一种有价值的儿科临床诊断工具。广泛基因中致病变异的鉴定——包括高比例的新突变——支持将基因检测纳入儿科癫痫的常规评估，以改善病因澄清和长期管理。

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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

Structural brain alterations in persistent developmental stuttering: a whole-brain voxel-based morphometry (VBM) analysis of grey and white matter 持续性发育性口吃的脑结构改变：灰质和白质的全脑体素形态学分析

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-12-01 Epub Date: 2025-10-08 DOI: 10.1016/j.braindev.2025.104464

Seyedehsamaneh Shojaeilangari , Mohammad Ehsan Taghizadeh , Narges Radman

Objective

Persistent developmental stuttering (PDS), also known as childhood-onset speech fluency disorder, is characterized by involuntary disruptions in normal speech fluency, such as sound repetitions, prolongations, and silent pauses. Although structural neuroimaging techniques, particularly voxel-based morphometry (VBM), have been widely used to explore brain abnormalities in PDS, the precise brain regions predominantly affected remain unclear. This study aimed to investigate grey matter (GM) and white matter (WM) volumetric differences in adults with PDS compared to fluent speakers.

Methods

Magnetic resonance imaging (MRI) scans were obtained from 15 adults with PDS and 15 fluent control participants matched for age, sex, education, and hand preference. Whole-brain VBM analysis was conducted to assess GM and WM volume differences between the two groups.

Results

Compared to fluent speakers, adults with PDS demonstrated reduced WM volume in the cerebellum. GM alterations included increased volumes in the right postcentral gyrus and the left middle temporal gyrus (MTG), while decreased volumes were observed in the left superior frontal gyrus (SFG), bilateral paracentral lobule, right cuneus, and right cerebellum.

Conclusion

These findings provide evidence of both grey and white matter abnormalities in adults with PDS, highlighting the involvement of specific cortical and subcortical regions. The results support the significance of structural brain differences in understanding the neurobiological basis of persistent stuttering.

持续性发展性口吃（PDS），也被称为儿童期言语流畅障碍，其特征是正常言语流畅性的不自觉中断，如声音重复、延长和沉默停顿。尽管结构神经成像技术，特别是基于体素的形态测量（VBM），已被广泛用于探索PDS的大脑异常，但主要受影响的精确大脑区域仍不清楚。本研究的目的是研究成人半失语症患者与流利说话者相比灰质（GM）和白质（WM）体积的差异。方法对15名成年PDS患者和15名年龄、性别、教育程度和手部偏好相匹配的流利对照者进行磁共振成像（MRI）扫描。全脑VBM分析评估两组间GM和WM体积差异。结果与说流利英语的人相比，患有PDS的成人小脑WM体积减少。GM改变包括右侧中央后回和左侧颞中回（MTG）体积增加，而左侧额上回（SFG）、双侧中央旁小叶、右侧楔叶和右侧小脑体积减少。结论：这些发现为成人PDS患者的灰质和白质异常提供了证据，突出了特定皮层和皮层下区域的参与。研究结果支持了大脑结构差异对理解持续性口吃的神经生物学基础的重要性。

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引用次数: 0

Characteristics of ADHD subtypes in Japanese children and the association with obesity based on BMI-SD score 基于BMI-SD评分的日本儿童ADHD亚型特征及其与肥胖的关系

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-12-01 Epub Date: 2025-10-29 DOI: 10.1016/j.braindev.2025.104475

Yukihiko Kawasaki , Yuichi Suzuki , Kyohei Miyazaki , Naoko Suzuki , Megumi Hoshina , Asako Kato , Hiroyuki Morita , Yoko Ise , Hayato Go

Aim

In order to clarify the characteristics of attention deficit hyperactivity disorder (ADHD) subtypes in Japanese children and the association with obesity based on body mass index (BMI)-standard deviation (SD) score, we conducted a clinical survey of pediatric patients with ADHD.

Methods

We collected data for 115 patients diagnosed with ADHD. The patients were retrospectively divided into three groups according to subtype. Group 1 consisted of patients with predominantly inattentive ADHD (ADHD-I: n = 41, 35.7 %), Group 2 consisted of patients with predominantly hyperactive-impulsive ADHD (ADHD-HI: n = 6, 5.2 %), and Group 3 consisted of patients with a combined subtype (ADHD-C: n = 68, 59.1 %). The clinical features were analyzed for each group.

Results

The most common ADHD subtype was ADHD-C, followed by ADHD-I and ADHD-HI. At the time of diagnosis and at the most recently follow-up, the ADHD-Rating Scale (RS) scores for total in Group 3 were higher than those in Group 1 or Group 2, and trouble score (TS) at the time of diagnosis and the frequency of patients requiring ADHD drugs medicine were higher in Group 3. Further, the BMI-SD scores in children with ADHD were high at 0.38 ± 1.1. The frequency of patients with a BMI-SD score above 2.0 was 7.3 % (n = 3) in Group 1, 16.7 % (n = 1) in Group 2, and 8.8 % (n = 6) in Group 3, and 8.7 % in all patients.

Conclusion

These results suggest that more careful follow-up is necessary for patients with ADHD-C than for those ADHD-I and ADHD-HI, and it is important to monitor the progress of ADHD children with obesity with the aim of improving their condition.

目的：为了明确日本儿童注意缺陷多动障碍（ADHD）亚型的特征及其与肥胖的关系，基于体质指数(BMI)-标准差（SD）评分，对儿童ADHD患者进行临床调查。方法：收集115例ADHD患者的资料。回顾性将患者按亚型分为三组。组1包括以注意力不集中为主的ADHD患者（ADHD- i: n = 41, 35.7%），组2包括以多动冲动型为主的ADHD患者（ADHD- hi: n = 6, 5.2%），组3包括合并亚型的患者（ADHD- c: n = 68, 59.1%）。分析各组患者的临床特征。结果：ADHD亚型中最常见的是ADHD- c，其次是ADHD- i和ADHD- hi。在诊断时和最近一次随访时，组3的ADHD评定量表（RS）总分高于组1和组2，组3在诊断时的麻烦评分（TS）和需要ADHD药物治疗的患者频率均高于组1和组2。此外，ADHD儿童的BMI-SD得分较高，为0.38±1.1。1组BMI-SD评分高于2.0的患者占7.3% (n = 3)， 2组占16.7% (n = 1)， 3组占8.8% (n = 6)，所有患者占8.7%。结论：与ADHD- i和ADHD- hi患者相比，ADHD- c患者需要更仔细的随访，监测ADHD合并肥胖儿童的进展情况对改善其病情具有重要意义。

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引用次数: 0

Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital 喀麦隆儿童癫痫：临床模式、预测因素和三级医院的教育影响

IF 1.3 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-12-01 Epub Date: 2025-11-15 DOI: 10.1016/j.braindev.2025.104485

Dominique Enyama , Daniel Gams Massi , Diomede Noukeu Njinkui , Zakiatou Benazir Abdourahmani , Joël Aquilas Ngalandeu Kwemo , Abouame Palma Haoua , Daniel Armand Kago Tague , Arielle Annick Sime Tchouamo , Danielle Christiane Kedy Mangamba

Introduction

Epilepsy is a chronic brain disorder characterized by recurrent seizures. Limited data on childhood epilepsy in Cameroon prompted this study.

Methods

We conducted a cross-sectional study with retrospective data collection over six months (December 2023–May 2024). Medical records of children aged 3 months to 15 years, diagnosed with epilepsy and followed at Douala General Hospital between January 2020 and December 2023, were analyzed. Statistical analysis used SPSS 26.0, with Fisher's exact and chi-square tests for associations, and logistic regression for predictive factors (p < 0.05).

Results

142 patients were included (male-to-female ratio = 1.21). Epilepsy prevalence was 2.4 %. Generalized seizures predominated (65.7 %) with focal epileptic abnormalities in 50.7 % of cases. Idiopathic generalized epilepsy represented 57.7 % of cases. Sodium valproate was used in 52.8 % of cases. Main etiological factors included: neonatal convulsions (61; 43 %), febrile seizures (49; 34.5 %) and neonatal asphyxia (35; 24.6 %). Seizures persisted in 35 patients (24.6 %) under treatment. Predictive factors for poor seizure control included unknown seizure type (OR 14.25 [1.10–183.97]; p = 0.04), cryptogenic focal epilepsy (OR 12.55 [1.58–99.71]; p = 0.02), and use of prayers or traditional medicines (OR 7.45 [1.01–55.13]; p = 0.05). Memory disorders significantly impacted school performance (OR 4.95 [1.80–13.59]; p = 0.002), along with lack of concentration (OR 3.04 [1.04–8.84]; p = 0.04).

Conclusion

This study identified specific predictive factors for poor epileptic control and confirms cognitive impact on schooling, providing intervention targets to optimize neurological and educational management in Cameroon.

癫痫是一种以反复发作为特征的慢性脑部疾病。关于喀麦隆儿童癫痫的有限数据促使了这项研究。方法采用横断面研究，回顾性收集数据6个月（2012月- 2024年5月）。分析了2020年1月至2023年12月期间在杜阿拉总医院诊断为癫痫并随访的3个月至15岁儿童的医疗记录。统计学分析采用SPSS 26.0，相关性采用Fisher精确检验和卡方检验，预测因素采用logistic回归（p < 0.05）。结果共纳入142例患者，男女比为1.21。癫痫患病率为2.4%。全身性癫痫发作占多数（65.7%），局灶性癫痫异常占50.7%。特发性全身性癫痫占57.7%。52.8%的病例使用丙戊酸钠。主要病因包括新生儿惊厥（61例；43%）、热性惊厥（49例；34.5%）和新生儿窒息（35例；24.6%）。35例（24.6%）患者在治疗中持续发作。癫痫控制不良的预测因素包括未知癫痫类型（OR 14.25 [1.10-183.97]; p = 0.04）、隐源性局灶性癫痫（OR 12.55 [1.58-99.71]; p = 0.02）和使用祈祷或传统药物（OR 7.45 [1.01-55.13]; p = 0.05）。记忆障碍显著影响学习成绩（OR 4.95 [1.80-13.59]; p = 0.002），以及注意力不集中（OR 3.04 [1.04-8.84]; p = 0.04）。结论本研究确定了癫痫控制不良的具体预测因素，确认了认知对学校教育的影响，为优化喀麦隆的神经和教育管理提供了干预目标。

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