Brain & Development最新文献

{"title":"The global research hotspots and future trends of infantile epileptic spasms syndrome: A bibliometric analysis of trends and themes","authors":"Zhenzhen Wang ,&nbsp;Danqing Hu ,&nbsp;Xin Dong ,&nbsp;Wei Zhou","doi":"10.1016/j.braindev.2026.104500","DOIUrl":"10.1016/j.braindev.2026.104500","url":null,"abstract":"<div><h3>Objective</h3><div>This study aims to investigate research trends, key contributors, and emerging topics in the field of infantile epileptic spasms syndrome (IESS).</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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. <em>Epilepsia</em> 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”.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104500"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977868","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}

{"title":"Brain health in youth - what are we measuring? – A comprehensive review","authors":"Susanne R. De Rooij ,&nbsp;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":"2026-02-01","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}

{"title":"Diagnostic advances in the etiology of cytotoxic lesions of the corpus callosum (CLOCC): epilepsy relationship and ADC radiomics perspective","authors":"Gül Yücel ,&nbsp;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":"2026-02-01","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}

{"title":"A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells","authors":"Etsuko Daimon ,&nbsp;Yukinao Shibukawa ,&nbsp;Natsuko Yamazaki ,&nbsp;Masanobu Kawai ,&nbsp;Saori Kinoshita ,&nbsp;Nobuhiko Okamoto","doi":"10.1016/j.braindev.2026.104503","DOIUrl":"10.1016/j.braindev.2026.104503","url":null,"abstract":"<div><h3>Background</h3><div>Takenouchi-Kosaki syndrome (TKS), caused by the <em>CDC42</em> c.191A&gt;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.</div></div><div><h3>Objective</h3><div>This study aimed to investigate the functional impact of ectopically expressing the Y64C variant on the neurite outgrowth of neuroblastoma cells, Neuro2A.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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 <em>Smarca1</em>. 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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104503"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146047499","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}

{"title":"Quantitative interpretation using ADC values for subjective MRI classification of neonatal hypoxic-ischemic encephalopathy","authors":"Katsumi Hayakawa ,&nbsp;Koichi Tanda ,&nbsp;Masakazu Nishimoto ,&nbsp;Akira Nishimura ,&nbsp;Daisuke Kinoshita ,&nbsp;Yuko Sano","doi":"10.1016/j.braindev.2025.104499","DOIUrl":"10.1016/j.braindev.2025.104499","url":null,"abstract":"<div><h3>Background</h3><div>MRI-based classification of hypoxic–ischemic encephalopathy (HIE), particularly using diffusion-weighted imaging (DWI), remains susceptible to subjective bias in determining the presence or absence of diffusion restriction. Quantitative measures such as apparent diffusion coefficient (ADC) values may provide a more objective assessment of injury severity.</div></div><div><h3>Purpose</h3><div>To evaluate the depth and distribution of brain injury in neonatal HIE by quantitatively assessing regional ADC values across MRI pattern classifications, independent of subjective visual interpretation of DWI signal changes.</div></div><div><h3>Materials and methods</h3><div>Seventy-three consecutively enrolled full-term infants with HIE underwent brain MRI, and ADC values were measured at five predefined brain regions. Correlations between regional ADC values and MRI pattern groups were analyzed.</div></div><div><h3>Results</h3><div>Five MRI patterns were identified: normal, white matter injury (WMI), watershed (WS), basal ganglia/thalamus injury (BGT), and near total brain injury (nTBI). ADC distribution analysis demonstrated two principal findings: (1) no significant differences among the normal, WMI, and WS pattern groups; and (2) significantly lower ADC values in the nTBI group compared with the BGT group at all brain regions during the first week of life, and at the centrum semiovale during the second week.</div></div><div><h3>Conclusion</h3><div>Quantitative analysis revealed distinct ADC distribution differences between the BGT and nTBI patterns during the first and second weeks of life, indicating substantially more severe and widespread brain injury in the nTBI pattern.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104499"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977866","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}

{"title":"Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals","authors":"Chika Watanabe ,&nbsp;Akihiko Miyauchi ,&nbsp;Shiho Aoki ,&nbsp;Miyuki Watanabe ,&nbsp;Eriko F. Jimbo ,&nbsp;Yuudai Miyama ,&nbsp;Hirotsugu Kitayama ,&nbsp;Yuichi Uno ,&nbsp;Kenji Watanabe ,&nbsp;Yuka Hattori ,&nbsp;Yuka Yotsumoto ,&nbsp;Takanori Onuki ,&nbsp;Yohei Sugiyama ,&nbsp;Keiko Ichimoto ,&nbsp;Yukiko Yatsuka ,&nbsp;Yasushi Okazaki ,&nbsp;Toshiyuki Imasawa ,&nbsp;Kei Murayama ,&nbsp;Akira Ohtake ,&nbsp;Takanori Yamagata ,&nbsp;Hitoshi Osaka","doi":"10.1016/j.braindev.2025.104497","DOIUrl":"10.1016/j.braindev.2025.104497","url":null,"abstract":"<div><h3>Background</h3><div>Primary coenzyme Q₁₀ (CoQ₁₀) deficiency is a group of mitochondrial disorders caused by pathogenic variants of genes involved in CoQ₁₀ biosynthesis. Although some patients respond to oral CoQ₁₀ supplementation, the pathophysiology remains poorly understood. Ferroptosis, a form of iron-dependent cell death driven by lipid peroxidation, is suppressed by reduced CoQ₁₀ <em>via</em> ferroptosis suppressor protein 1 (FSP1). However, its involvement in primary CoQ₁₀ deficiency has not yet been studied using patient-derived cells.</div></div><div><h3>Cases and results</h3><div>We reported six patients from three families and investigated ferroptosis susceptibility in fibroblasts from three representative patients: one with <em>COQ2</em> variants and two with <em>COQ4</em> variants. Fibroblasts with <em>COQ2</em> variants showed increased vulnerability to ferroptosis inducers, plasma membrane lipid peroxidation. In contrast, fibroblasts with <em>COQ4</em> variants exhibited only mild changes. Notably, susceptibility to ferroptosis remained unchanged after increasing intracellular CoQ₁₀ levels. Despite this persistent ferroptosis sensitivity <em>in vitro</em>, the <em>COQ2</em> patient exhibited significant clinical improvement following CoQ₁₀ supplementation. These findings suggest that ferroptosis may contribute to cellular vulnerability in primary CoQ₁₀ deficiency but may not be the primary driver of renal and neurological symptoms.</div></div><div><h3>Conclusions</h3><div>Our results highlight a complex interplay between CoQ₁₀ biosynthesis, ferroptosis defense, and therapeutic response, warranting further investigation of subcellular CoQ₁₀ distribution and ferroptosis-related mechanisms.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104497"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145866425","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}

{"title":"Electroencephalogram abnormalities in children presenting with language development delay","authors":"Merve Yavuz ,&nbsp;Feyza Gülağız ,&nbsp;Aycan Ünalp ,&nbsp;Pakize Karaoğlu ,&nbsp;Ünsal Yılmaz","doi":"10.1016/j.braindev.2026.104504","DOIUrl":"10.1016/j.braindev.2026.104504","url":null,"abstract":"<div><h3>Background</h3><div>EEG abnormalities are frequently reported in children with developmental language disorders, particularly in language-associated regions, though existing data remain inconsistent.</div></div><div><h3>Aim</h3><div>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.</div></div><div><h3>Method</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104504"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146022350","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}

{"title":"Construction and clinical validation of a fetal brain magnetic resonance imaging-prediction model based on multimodal AI fusion algorithm","authors":"BingGuang Liu,&nbsp;FangJing Zhang,&nbsp;JiMin Guo,&nbsp;Wei Lu,&nbsp;ZhiJun Zhu,&nbsp;Yang Liu,&nbsp;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":"2026-02-01","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}

{"title":"Evaluation of perinatal arterial ischemic stroke patients: Underlying etiologic factors and long-term prognosis","authors":"Çisem Duman Kayar ,&nbsp;Rıdvan Avcı ,&nbsp;Fulya Kürekçi ,&nbsp;Ceyda Öney Yılmaz ,&nbsp;Ceyda Bayraktar Eltutan ,&nbsp;Vugar Abbasaliyev ,&nbsp;Serap Karaman ,&nbsp;Mehmet Barbüroğlu ,&nbsp;Hülya Maraş Genç ,&nbsp;Edibe Pembegül Yıldız","doi":"10.1016/j.braindev.2026.104501","DOIUrl":"10.1016/j.braindev.2026.104501","url":null,"abstract":"<div><h3>Background</h3><div>Perinatal arterial ischemic stroke (PAIS) is a major cause of long-term neurological impairments. Understanding its etiologic and prognostic factors is essential for improving outcomes.</div></div><div><h3>Methods</h3><div>A retrospective single-center study was conducted on children diagnosed with PAIS between 2008 and 2024. Clinical, imaging, and EEG data were analyzed to identify predictors of epilepsy and poor outcomes based on modified Rankin Scale (mRS) scores.</div></div><div><h3>Results</h3><div>A total of 44 patients (9 neonatal arterial ischemic stroke [NAIS], 35 Presumed perinatal arterial ischemic stroke [PPAIS]) with a mean follow-up of 6.49 years were included. Seizure was the first symptom in 45.5%, and focal motor deficit in 54.5%. The most affected artery was the middle cerebral artery (92%), particularly the M1 branch (36.4%). Cortical involvement was noted in 59.1%. Fourteen patients developed epilepsy; 14.2% were drug-resistant. Focal EEG slowing (odds ratio [OR] = 8.484, <em>p</em> = 0.019) and cortical involvement (OR = 6.857, <em>p</em> = 0.023) significantly predicted epilepsy. Poor mRS outcomes (≥3) were seen in 44.2%, and were associated with epilepsy (OR = 5.556, <em>p</em> = 0.016), EEG slowing (OR = 5.353, <em>p</em> = 0.035), and cortical involvement (OR = 7.467, <em>p</em> = 0.008).</div></div><div><h3>Conclusions</h3><div>Early EEG and MRI findings are crucial in predicting long-term prognosis in PAIS. Further multicenter studies are needed to validate and enhance outcomes.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104501"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145977867","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}

{"title":"Pediatric neuromyelitis optica spectrum disorders in Dakar: Insights from a preliminary multicentric case series in Senegal","authors":"Ndiaga Matar Gaye ,&nbsp;Rokhaya Diagne ,&nbsp;Khalifa Ababacar Mbaye ,&nbsp;Alice Ingabiré Goumba ,&nbsp;Marie Emilie Ndong ,&nbsp;Seynabou Dieng ,&nbsp;Adjaratou Dieynabou Sow ,&nbsp;El Hadji Makhtar Ba ,&nbsp;Moustapha Ndiaye","doi":"10.1016/j.braindev.2026.104505","DOIUrl":"10.1016/j.braindev.2026.104505","url":null,"abstract":"<div><h3>Aim</h3><div>To describe the epidemiological, diagnostic, therapeutic, and outcome aspects of pediatric neuromyelitis optica spectrum disorders (NMOSD) in Dakar, Senegal.</div></div><div><h3>Methods</h3><div>We conducted a multicenter retrospective and prospective study including patients with pediatric-onset NMOSD (&lt;18 years) diagnosed according to the 2015 Wingerchuk criteria.</div></div><div><h3>Results</h3><div>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).</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 1","pages":"Article 104505"},"PeriodicalIF":1.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146077411","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}