Pub Date : 2025-12-13DOI: 10.1016/j.braindev.2025.104494
Gül Yücel , Nur Yücel Ekici
{"title":"Diagnostic advances in the etiology of cytotoxic lesions of the corpus callosum (CLOCC): epilepsy relationship and ADC radiomics perspective","authors":"Gül Yücel , Nur Yücel Ekici","doi":"10.1016/j.braindev.2025.104494","DOIUrl":"10.1016/j.braindev.2025.104494","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104494"},"PeriodicalIF":1.3,"publicationDate":"2025-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738495","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}
Pub Date : 2025-12-11DOI: 10.1016/j.braindev.2025.104491
Susanne R. De Rooij , Amber Boots
Background
There is a large body of literature on brain health, usually focusing on brain health in adulthood in relation to neurodegenerative diseases. Over the past ten years, brain health has also emerged as a concept in studies conducted in youth. But what is brain health in youth and how can we measure this?
Methods
We summarized the literature on brain health in youth and inventoried operationalizations of brain health and research themes. We searched Medline for studies reporting on brain health in youth (from neonates to late adolescent stage).
Results
We identified 49 eligible studies: 26 operationalized brain health in youth, 13 measured outcomes which they related to brain health and 10 were reviews about youth brain health. Operationalizations of brain health varied widely and included multimodal measures involving questionnaires, cognitive tests, neuroimaging and blood biomarkers. Identified research themes were obesity/fitness/lifestyle as determinants of youth brain health, neonatal brain health, traumatic brain injury and brain health, technological options for measuring brain health, and childhood determinants of brain health.
Conclusion
This review offers a comprehensive overview of possibilities for measuring brain health in youth, which could serve as a valuable foundation for a commonly accepted definition, framework and operationalization of brain health in youth.
{"title":"Brain health in youth - what are we measuring? – A comprehensive review","authors":"Susanne R. De Rooij , Amber Boots","doi":"10.1016/j.braindev.2025.104491","DOIUrl":"10.1016/j.braindev.2025.104491","url":null,"abstract":"<div><h3>Background</h3><div>There is a large body of literature on brain health, usually focusing on brain health in adulthood in relation to neurodegenerative diseases. Over the past ten years, brain health has also emerged as a concept in studies conducted in youth. But what is brain health in youth and how can we measure this?</div></div><div><h3>Methods</h3><div>We summarized the literature on brain health in youth and inventoried operationalizations of brain health and research themes. We searched Medline for studies reporting on brain health in youth (from neonates to late adolescent stage).</div></div><div><h3>Results</h3><div>We identified 49 eligible studies: 26 operationalized brain health in youth, 13 measured outcomes which they related to brain health and 10 were reviews about youth brain health. Operationalizations of brain health varied widely and included multimodal measures involving questionnaires, cognitive tests, neuroimaging and blood biomarkers. Identified research themes were obesity/fitness/lifestyle as determinants of youth brain health, neonatal brain health, traumatic brain injury and brain health, technological options for measuring brain health, and childhood determinants of brain health.</div></div><div><h3>Conclusion</h3><div>This review offers a comprehensive overview of possibilities for measuring brain health in youth, which could serve as a valuable foundation for a commonly accepted definition, framework and operationalization of brain health in youth.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104491"},"PeriodicalIF":1.3,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738490","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}
To develop a multimodal artificial intelligence (AI) fusion model predicting abnormal fetal brain development from magnetic resonance imaging (MRI).
Methods
Using fetal brain MRI data and clinical indicators from pregnant women (from January 2021 to December 2023), who were split 7:3 into training and validation sets. In the training set, key predictors were identified via univariate analysis and multivariate logistic regression, including both clinical indicators and continuous MRI biometric parameters. Three multimodal AI fusion models，including Convolutional Neural Network-Recurrent Neural Network (CNN-RNN) model, attention mechanism-based model, and feature concatenation model were developed. Performance was assessed by accuracy, precision, recall, F1-score, and the area under the receiver operating characteristic curve (AUC).
Results
Among the total 806 participants, 108 cases (19.15 %) had fetal brain abnormalities in the training set (n = 564), 45 cases (18.59 %) in the validation set (n = 242). Multivariate logistic regression analysis showed that gestational age, gestational diabetes mellitus, alpha-fetoprotein, lateral ventricular width, and sulcation development score were independent risk factors for fetal brain abnormalities. The attention mechanism fusion model achieved the highest AUC in both the training set (0.876) and the validation set (0.869), significantly outperforming the CNN-RNN fusion model (AUC in training set: 0.776; AUC in validation set: 0.718) and the feature concatenation fusion model (AUC in training set: 0.754; AUC in validation set: 0.720).
Conclusion
The multimodal AI fusion model, particularly using attention mechanisms, effectively identifies high-risk fetal brain abnormalities, offering potential for early clinical intervention and improved prenatal counseling to enhance detection and prognosis of neurological disorders.
{"title":"Construction and clinical validation of a fetal brain magnetic resonance imaging-prediction model based on multimodal AI fusion algorithm","authors":"BingGuang Liu, FangJing Zhang, JiMin Guo, Wei Lu, ZhiJun Zhu, Yang Liu, ChenWang Yin","doi":"10.1016/j.braindev.2025.104492","DOIUrl":"10.1016/j.braindev.2025.104492","url":null,"abstract":"<div><h3>Objective</h3><div>To develop a multimodal artificial intelligence (AI) fusion model predicting abnormal fetal brain development from magnetic resonance imaging (MRI).</div></div><div><h3>Methods</h3><div>Using fetal brain MRI data and clinical indicators from pregnant women (from January 2021 to December 2023), who were split 7:3 into training and validation sets. In the training set, key predictors were identified via univariate analysis and multivariate logistic regression, including both clinical indicators and continuous MRI biometric parameters. Three multimodal AI fusion models，including Convolutional Neural Network-Recurrent Neural Network (CNN-RNN) model, attention mechanism-based model, and feature concatenation model were developed. Performance was assessed by accuracy, precision, recall, F1-score, and the area under the receiver operating characteristic curve (AUC).</div></div><div><h3>Results</h3><div>Among the total 806 participants, 108 cases (19.15 %) had fetal brain abnormalities in the training set (<em>n</em> = 564), 45 cases (18.59 %) in the validation set (<em>n</em> = 242). Multivariate logistic regression analysis showed that gestational age, gestational diabetes mellitus, alpha-fetoprotein, lateral ventricular width, and sulcation development score were independent risk factors for fetal brain abnormalities. The attention mechanism fusion model achieved the highest AUC in both the training set (0.876) and the validation set (0.869), significantly outperforming the CNN-RNN fusion model (AUC in training set: 0.776; AUC in validation set: 0.718) and the feature concatenation fusion model (AUC in training set: 0.754; AUC in validation set: 0.720).</div></div><div><h3>Conclusion</h3><div>The multimodal AI fusion model, particularly using attention mechanisms, effectively identifies high-risk fetal brain abnormalities, offering potential for early clinical intervention and improved prenatal counseling to enhance detection and prognosis of neurological disorders.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104492"},"PeriodicalIF":1.3,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738496","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}
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.
{"title":"Paediatric neurological care in Sub-Saharan Africa: Current status and future directions","authors":"Mabel Frimpong , Siham Mohamed , Miracle Olayeri Ibukun , Yaa Asieduwaa Owusu , Andrew Awuah Wireko","doi":"10.1016/j.braindev.2025.104490","DOIUrl":"10.1016/j.braindev.2025.104490","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104490"},"PeriodicalIF":1.3,"publicationDate":"2025-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738494","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}
Pub Date : 2025-12-07DOI: 10.1016/j.braindev.2025.104487
Susanna Stjerna , Lina-Maria Hämäläinen , Mari Videman
Background
Antiseizure medications (ASM) are essential for patients with epilepsy. Though prenatal exposure to ASMs is associated with increased risk for malformations and neurocognitive problems, whether prenatal ASM exposure modifies offsprings' natural developmental trajectory has not yet been studied.
Methods
This prospective study explores the effect of prenatal ASM exposure on the trajectory of cognitive development of children by studying the association of Bayley Scales III scores at 2 years with WISC-IV scores at 6 years of age and by comparing the results against those of unexposed children. Neurocognitive performance of 30 children with prenatal ASM exposure and 37 unexposed control children were evaluated. Correlations and separate ANCOVAs across these ages were compared between ASM exposed and unexposed controls. Results were controlled for maternal education, type of maternal epilepsy, child sex and child age at the assessment.
Results
In unexposed participants, cognitive scores at the age of two years associated positively with working memory and processing speed at six years of age and receptive language scores at the age of two years associated with working memory at six years old. Conversely, with exposed children, there were no significant associations between two- and six-year test scores, and coefficients between receptive language and six-year-old working memory or processing speed differed significantly from unexposed children's coefficients. However, small sample size restricts the stability of the results, and the observed group differences in coefficients were not significant after removal of outlier.
Conclusion
ASM exposure in utero may affect the trajectory of neurocognitive development, but the findings were impacted by an outlier and should be confirmed in larger cohort.
{"title":"Does in utero exposure to antiseizure medications affect the trajectory of cognitive development from 2 to 6 years of age?","authors":"Susanna Stjerna , Lina-Maria Hämäläinen , Mari Videman","doi":"10.1016/j.braindev.2025.104487","DOIUrl":"10.1016/j.braindev.2025.104487","url":null,"abstract":"<div><h3>Background</h3><div>Antiseizure medications (ASM) are essential for patients with epilepsy. Though prenatal exposure to ASMs is associated with increased risk for malformations and neurocognitive problems, whether prenatal ASM exposure modifies offsprings' natural developmental trajectory has not yet been studied.</div></div><div><h3>Methods</h3><div>This prospective study explores the effect of prenatal ASM exposure on the trajectory of cognitive development of children by studying the association of Bayley Scales III scores at 2 years with WISC-IV scores at 6 years of age and by comparing the results against those of unexposed children. Neurocognitive performance of 30 children with prenatal ASM exposure and 37 unexposed control children were evaluated. Correlations and separate ANCOVAs across these ages were compared between ASM exposed and unexposed controls. Results were controlled for maternal education, type of maternal epilepsy, child sex and child age at the assessment.</div></div><div><h3>Results</h3><div>In unexposed participants, cognitive scores at the age of two years associated positively with working memory and processing speed at six years of age and receptive language scores at the age of two years associated with working memory at six years old. Conversely, with exposed children, there were no significant associations between two- and six-year test scores, and coefficients between receptive language and six-year-old working memory or processing speed differed significantly from unexposed children's coefficients. However, small sample size restricts the stability of the results, and the observed group differences in coefficients were not significant after removal of outlier.</div></div><div><h3>Conclusion</h3><div>ASM exposure in utero may affect the trajectory of neurocognitive development, but the findings were impacted by an outlier and should be confirmed in larger cohort.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104487"},"PeriodicalIF":1.3,"publicationDate":"2025-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145696507","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}
Pub Date : 2025-12-03DOI: 10.1016/j.braindev.2025.104489
Yuko Shimizu-Motohashi
{"title":"Reply to the letter to the editor “Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges”","authors":"Yuko Shimizu-Motohashi","doi":"10.1016/j.braindev.2025.104489","DOIUrl":"10.1016/j.braindev.2025.104489","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104489"},"PeriodicalIF":1.3,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145659098","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}
We aimed to analyze the prevalence, clinico-radiological and genetic features, and outcomes in children with Alexander disease (AD) with special emphasis on atypical presentations.
Methods
This cross-sectional study evaluated children with AD seen over the past 10 years. Neuroimaging was evaluated by a trained neuroradiologist. In-silico tools were used to predict the pathogenicity of the novel variants detected by whole-exome sequencing.
Results
N = 12 children (males 58.3 %) with genetically-confirmed AD were evaluated. Disease subtypes were infantile (n = 7, 58.3 %), juvenile (n = 3, 25 %), and neonatal (n = 2, 16.7 %) AD. The clinic-based prevalence of AD was 0.34 cases per 1000 pediatric neurology patients per year, or an average of 1.2 cases per year. Clinical features were developmental delay (n = 9, 75 %), macrocephaly (n = 9, 75 %), spasticity (n = 6, 50 %), and epilepsy (n = 8, 66.7 %); two children with juvenile-onset disease had atypical visual and bulbar manifestations. Pathogenic variations were most common in exons 1 (n = 5, 42 %), and exon 4 (n = 4, 33.3 %). These were missense type (n = 11, 91.6 %) or deletion (n = 1, 8.3 %). Three novel variants were detected: c.251T>G (p.Ile84Ser) in exon 1, c.810_818 deletion (p.Asn271_Glu273del) in exon 5, and c.292G>C (p.Ala98Pro) in exon 1 in the GFAP gene (NM_002055). Majority of children developed spastic paresis (n = 9, 83 %) and mortality rate was 33.3 % (n = 4/12).
Conclusion
AD is a rare leukodystrophy with high mortality and progressive spastic paraparesis. Neonatal and juvenile types may present atypically and delay correct diagnosis. Deletions may account for a minor proportion of pathogenic variants. Our study expands the clinico-radiological spectrum of AD in children.
{"title":"Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants","authors":"Renu Suthar , Yashu Sharma , Arushi Gahlot Saini , Pawan Kumar , Sadhna Lal , Prateek Bhatia , Vikas Bhatia , Sameer Vyas , Priyanka Srivastava , Balamurugan Nagarajan , Savita Attri , Jitendra Sahu , Naveen Sankhyan","doi":"10.1016/j.braindev.2025.104488","DOIUrl":"10.1016/j.braindev.2025.104488","url":null,"abstract":"<div><h3>Background</h3><div>We aimed to analyze the prevalence, clinico-radiological and genetic features, and outcomes in children with Alexander disease (AD) with special emphasis on atypical presentations.</div></div><div><h3>Methods</h3><div>This cross-sectional study evaluated children with AD seen over the past 10 years. Neuroimaging was evaluated by a trained neuroradiologist. <em>In-silico</em> tools were used to predict the pathogenicity of the novel variants detected by whole-exome sequencing.</div></div><div><h3>Results</h3><div><em>N</em> = 12 children (males 58.3 %) with genetically-confirmed AD were evaluated. Disease subtypes were infantile (<em>n</em> = 7, 58.3 %), juvenile (<em>n</em> = 3, 25 %), and neonatal (<em>n</em> = 2, 16.7 %) AD. The clinic-based prevalence of AD was 0.34 cases per 1000 pediatric neurology patients per year, or an average of 1.2 cases per year. Clinical features were developmental delay (<em>n</em> = 9, 75 %), macrocephaly (n = 9, 75 %), spasticity (<em>n</em> = 6, 50 %), and epilepsy (<em>n</em> = 8, 66.7 %); two children with juvenile-onset disease had atypical visual and bulbar manifestations. Pathogenic variations were most common in exons 1 (<em>n</em> = 5, 42 %), and exon 4 (<em>n</em> = 4, 33.3 %). These were missense type (<em>n</em> = 11, 91.6 %) or deletion (n = 1, 8.3 %). Three novel variants were detected: c.251T>G (p.Ile84Ser) in exon 1, c.810_818 deletion (p.Asn271_Glu273del) in exon 5, and c.292G>C (p.Ala98Pro) in exon 1 in the <em>GFAP</em> gene (NM_002055). Majority of children developed spastic paresis (<em>n</em> = 9, 83 %) and mortality rate was 33.3 % (<em>n</em> = 4/12).</div></div><div><h3>Conclusion</h3><div>AD is a rare leukodystrophy with high mortality and progressive spastic paraparesis. Neonatal and juvenile types may present atypically and delay correct diagnosis. Deletions may account for a minor proportion of pathogenic variants. Our study expands the clinico-radiological spectrum of AD in children.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104488"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617802","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}
Pub Date : 2025-11-15DOI: 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。
{"title":"Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital","authors":"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","doi":"10.1016/j.braindev.2025.104485","DOIUrl":"10.1016/j.braindev.2025.104485","url":null,"abstract":"<div><h3>Introduction</h3><div>Epilepsy is a chronic brain disorder characterized by recurrent seizures. Limited data on childhood epilepsy in Cameroon prompted this study.</div></div><div><h3>Methods</h3><div>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 (<em>p</em> < 0.05).</div></div><div><h3>Results</h3><div>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]; <em>p</em> = 0.04), cryptogenic focal epilepsy (OR 12.55 [1.58–99.71]; <em>p</em> = 0.02), and use of prayers or traditional medicines (OR 7.45 [1.01–55.13]; <em>p</em> = 0.05). Memory disorders significantly impacted school performance (OR 4.95 [1.80–13.59]; <em>p</em> = 0.002), along with lack of concentration (OR 3.04 [1.04–8.84]; <em>p</em> = 0.04).</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104485"},"PeriodicalIF":1.3,"publicationDate":"2025-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520345","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}
Pub Date : 2025-11-14DOI: 10.1016/j.braindev.2025.104486
Gül Yücel
{"title":"Comment on “Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment”","authors":"Gül Yücel","doi":"10.1016/j.braindev.2025.104486","DOIUrl":"10.1016/j.braindev.2025.104486","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104486"},"PeriodicalIF":1.3,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520346","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}
Pub Date : 2025-11-14DOI: 10.1016/j.braindev.2025.104484
Nobuaki Tsuiki , Itaru Hayakawa , Yuichi Abe
Objectives
Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated disorder of central nervous systems characterized by chaotic eye movements (opsoclonus), myoclonus, ataxia, and behavioral disturbances. OMS remains diagnostically challenging despite its recognizable clinical features.
Methods
We conducted a single-center cohort study of patients with OMS at a tertiary care children's medical center (2002–2024). Using the diagnostic odyssey plot methodology, we mapped individual diagnostic pathways, compared early (≤28 days) versus delayed (>28 days) diagnosis groups, and analyzed symptoms as well as patterns of diagnostic errors.
Results
Twenty cases were ascertained. Ten patients were diagnosed early (median 16.5 days), while the remaining experienced a delayed diagnosis (equal to or more than 28 days, median 124 days). Provisional diagnoses of acute cerebellar ataxia, acute disseminated encephalomyelitis, and acute cerebellitis were common. Analysis of symptoms revealed that nystagmus appeared at the same time in both the early- and delayed-diagnosed groups, but opsoclonus was recognized later in the delayed diagnosed group (11.5 days versus 96 days, p < 0.01). The presence or absence of neuroblastoma did not contribute to the diagnostic delay.
Conclusions
The unique diagnostic journey of OMS is presented. Reconsidering the diagnosis in cases of prolonged or relapsing ataxia and recognizing opsoclonus early on are vital for the early detection of OMS.
目的眼阵挛-肌阵挛综合征（OMS）是一种罕见的免疫介导的中枢神经系统疾病，以眼动混乱（眼阵挛）、肌阵挛、共济失调和行为障碍为特征。尽管OMS具有可识别的临床特征，但其诊断仍然具有挑战性。方法对某三级儿童医疗中心（2002-2024）的OMS患者进行单中心队列研究。使用诊断奥德赛图方法，我们绘制了个体诊断途径，比较早期（≤28天）和延迟（>；28天）诊断组，并分析了症状和诊断错误的模式。结果共确诊20例。10例患者早期诊断（中位16.5天），其余患者延迟诊断（等于或超过28天，中位124天）。临时诊断为急性小脑性共济失调，急性播散性脑脊髓炎和急性小脑炎是常见的。症状分析显示，早期和延迟诊断组眼球震颤同时出现，但延迟诊断组眼冠的发现较晚（11.5 d对96 d， p < 0.01）。神经母细胞瘤的存在或不存在不会导致诊断延迟。结论总结了OMS独特的诊断历程。对长期或复发性共济失调的病例重新考虑诊断，及早发现眼阵挛对OMS的早期发现至关重要。
{"title":"Diagnostic odyssey of opsoclonus-myoclonus syndrome and barriers to early detection","authors":"Nobuaki Tsuiki , Itaru Hayakawa , Yuichi Abe","doi":"10.1016/j.braindev.2025.104484","DOIUrl":"10.1016/j.braindev.2025.104484","url":null,"abstract":"<div><h3>Objectives</h3><div>Opsoclonus-myoclonus syndrome (OMS) is a rare immune-mediated disorder of central nervous systems characterized by chaotic eye movements (opsoclonus), myoclonus, ataxia, and behavioral disturbances. OMS remains diagnostically challenging despite its recognizable clinical features.</div></div><div><h3>Methods</h3><div>We conducted a single-center cohort study of patients with OMS at a tertiary care children's medical center (2002–2024). Using the diagnostic odyssey plot methodology, we mapped individual diagnostic pathways, compared early (≤28 days) versus delayed (>28 days) diagnosis groups, and analyzed symptoms as well as patterns of diagnostic errors.</div></div><div><h3>Results</h3><div>Twenty cases were ascertained. Ten patients were diagnosed early (median 16.5 days), while the remaining experienced a delayed diagnosis (equal to or more than 28 days, median 124 days). Provisional diagnoses of acute cerebellar ataxia, acute disseminated encephalomyelitis, and acute cerebellitis were common. Analysis of symptoms revealed that nystagmus appeared at the same time in both the early- and delayed-diagnosed groups, but opsoclonus was recognized later in the delayed diagnosed group (11.5 days versus 96 days, <em>p</em> < 0.01). The presence or absence of neuroblastoma did not contribute to the diagnostic delay.</div></div><div><h3>Conclusions</h3><div>The unique diagnostic journey of OMS is presented. Reconsidering the diagnosis in cases of prolonged or relapsing ataxia and recognizing opsoclonus early on are vital for the early detection of OMS.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104484"},"PeriodicalIF":1.3,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520433","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号