Brain & Development最新文献

{"title":"Child neurology: Early neuroprotective and immunomodulatory intervention in acute shock with encephalopathy and multiorgan failure: Cytokine-storm encephalopathy—case report","authors":"Nobuaki Tsuiki ,&nbsp;Tsuyoshi Aihara ,&nbsp;Itaru Hayakawa ,&nbsp;Taro Moriwaki ,&nbsp;Keiichi Tomita ,&nbsp;Tatsuya Takahashi ,&nbsp;Saeko Irie ,&nbsp;Shotaro Matsumoto ,&nbsp;Satoko Uematsu ,&nbsp;Yuichi Abe","doi":"10.1016/j.braindev.2026.104508","DOIUrl":"10.1016/j.braindev.2026.104508","url":null,"abstract":"<div><h3>Background</h3><div>Acute shock with encephalopathy and multiorgan failure (ASEM)—within the infection-triggered encephalopathy syndromes (ITES)—is a fulminant para-infectious encephalopathy that can progress to diffuse cerebral edema within hours. Guidance on time-critical immunomodulation remains limited.</div></div><div><h3>Case</h3><div>An 8-year-old girl developed abrupt altered mental status on day 2 of an influenza A respiratory illness. Glasgow Coma Scale score was E4V1M5 with hyperpyrexia, hypoxemia, and circulatory instability, prompting intubation. Head CT at 120 min showed early diffuse cerebral edema. At 180 min (transport-team arrival), systolic blood pressure was 60 mmHg; a neuroprotective bundle with vasoactive agents achieved partial stabilization. Methylprednisolone pulse therapy began at 200 min; therapeutic plasma exchange (TPE) at 430 min. Continuous EEG showed diffuse slowing in the 0.5–2 Hz band without suppression or electrographic seizures. Steroid pulses plus TPE were continued for five days, with adjunct intravenous immunoglobulin on days 5–6. Vasopressors were weaned by day 3; renal replacement therapy ended by day 5. Brain MRI on day 7 showed no new abnormalities. She was extubated on day 7; blood cultures remained negative. Neurologic status steadily improved. At 3.5 months, full-scale IQ was 111; at 6 months, only mild truncal ataxia persisted without functional limitation.</div></div><div><h3>Conclusions</h3><div>This ASEM case illustrates parallel diagnosis and treatment within a narrow window. Simple triggers—shock with multiorgan failure/disseminated intravascular coagulation and early imaging red flags—can support rapid transfer and early immunomodulation (e.g., steroid pulses and TPE) alongside neuroprotective care, potentially averting irreversible brain injury.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104508"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146183616","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 scoping review of functional near-infrared spectroscopy studies of reading development in children aged 6–12","authors":"Devon A. Bode,&nbsp;Saisha S. Rankaduwa,&nbsp;Laura M. Elliott,&nbsp;Aaron J. Newman","doi":"10.1016/j.braindev.2026.104507","DOIUrl":"10.1016/j.braindev.2026.104507","url":null,"abstract":"<div><h3>Significance</h3><div>Functional near-infrared spectroscopy (fNIRS) offers several advantages for neuroimaging in children, yet its use in research on cognitive development, particularly reading, remains limited.</div></div><div><h3>Aim</h3><div>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.</div></div><div><h3>Approach</h3><div>We searched PubMed, Embase, PsycINFO, Scopus, gray literature, and reference lists.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104507"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146108761","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":"Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan","authors":"Hironao Shirai ,&nbsp;Yoshiki Oitani ,&nbsp;Eriko Nishi ,&nbsp;Kohei Haraguchi ,&nbsp;Takuji Nakamura ,&nbsp;Fumio Ichinose ,&nbsp;Masafumi Sanefuji ,&nbsp;Ayako Hattori ,&nbsp;Kumiko Yanagi ,&nbsp;Keiko Shimojima Yamamoto ,&nbsp;Nobuhiko Okamoto ,&nbsp;Muneaki Matsuo ,&nbsp;Shinji Saitoh ,&nbsp;Koh-Ichiro Yoshiura ,&nbsp;Tadashi Kaname ,&nbsp;Toshiyuki Yamamoto","doi":"10.1016/j.braindev.2026.104509","DOIUrl":"10.1016/j.braindev.2026.104509","url":null,"abstract":"<div><h3>Background</h3><div>Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif containing 1 (<em>AHDC1</em>) 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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104509"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146137964","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":"Association between left precuneus functional connectivity and early neurodevelopment in preterm infants","authors":"Ye Feng ,&nbsp;Xu Li ,&nbsp;Shaohua Bi ,&nbsp;Le Wang ,&nbsp;Ya Wang ,&nbsp;Chao Zhang ,&nbsp;Liying Dai ,&nbsp;Jian Zhang","doi":"10.1016/j.braindev.2026.104513","DOIUrl":"10.1016/j.braindev.2026.104513","url":null,"abstract":"<div><h3>Objective</h3><div>Preterm birth is associated with an increased risk of functional brain network alterations, which may contribute to long-term motor and neurocognitive deficits. However, the underlying neural mechanisms remain incompletely understood. This study aimed to investigate functional brain activity changes in preterm infants and their correlation with early neurobehavioral development.</div></div><div><h3>Methods</h3><div>Fifteen preterm infants and 15 full-term infants underwent scanning using a 3.0T Philips MRI scanner. Three resting-state functional magnetic resonance imaging (rs-fMRI) data-driven approaches, amplitude of low-frequency fluctuations (ALFF), regional homogeneity (ReHo), and seed-based functional connectivity (FC) were used to comprehensively evaluate functional brain alterations in preterm infants at term-equivalent age (TEA). Correlations between Neonatal Behavioral Neurological Assessment (NBNA) scores and FC values of abnormally connected brain regions were further analyzed in preterm infants at TEA.</div></div><div><h3>Results</h3><div>Compared with full-term infants, preterm infants exhibited significantly higher ALFF and ReHo values in the left precuneus. Using the left precuneus as a seed region for FC analysis, preterm infants showed reduced FC with the left Rolandic operculum, right putamen, and left hippocampus. Additionally, FC values between the left precuneus and left Rolandic operculum, as well as between the left precuneus and right putamen, were positively correlated with NBNA scores in preterm infants.</div></div><div><h3>Conclusions</h3><div>Preterm infants may present early functional connectivity impairments of the left precuneus, which may be a potential neural correlate of neurobehavioral abnormalities. These findings provide insights into the neurodevelopmental mechanisms underlying preterm birth-related deficits and may inform early clinical assessment strategies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104513"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146168117","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":"Toward etiology-specific and radiomics-based approaches in cytotoxic lesions of the corpus callosum","authors":"Hasan Tekgül ,&nbsp;Yavuz Ataş ,&nbsp;Seda Kanmaz ,&nbsp;Cenk Eraslan","doi":"10.1016/j.braindev.2026.104506","DOIUrl":"10.1016/j.braindev.2026.104506","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104506"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081758","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":"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":"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":"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":"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}