Brain & Development最新文献

{"title":"AESD and vitamin therapy: The need for biomarkers and follow-up","authors":"Saalim Shahid, Muhammad Mudasir Atif","doi":"10.1016/j.braindev.2025.104446","DOIUrl":"10.1016/j.braindev.2025.104446","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104446"},"PeriodicalIF":1.3,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082575","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":"When details matter: Critical considerations in the study of meningitis","authors":"Christian Messina","doi":"10.1016/j.braindev.2025.104440","DOIUrl":"10.1016/j.braindev.2025.104440","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104440"},"PeriodicalIF":1.3,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082607","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":"Safety and feasibility of allogeneic sibling cord blood infusion in Japanese children with cerebral palsy: A single-center pilot study","authors":"Shiho Saitoh ,&nbsp;Hiroaki Kikuchi ,&nbsp;Takuzo Marukane ,&nbsp;Terumasa Tsuno ,&nbsp;Rina Hosoda ,&nbsp;Nobuyasu Baba ,&nbsp;Feifei Wang ,&nbsp;Yumi Kuroiwa ,&nbsp;Ryuhei Nagai ,&nbsp;Masayuki Tsuda ,&nbsp;Nagamasa Maeda ,&nbsp;Yusuke Sagara ,&nbsp;Mikiya Fujieda","doi":"10.1016/j.braindev.2025.104443","DOIUrl":"10.1016/j.braindev.2025.104443","url":null,"abstract":"<div><h3>Introduction</h3><div>Cerebral palsy (CP) is the most common motor disorder in childhood that causes lifelong disabilities. Studies suggest that administration of autologous cord blood (CB) or sibling cord blood (SCB) may improve gross motor function and brain connectivity in CP. In this pilot study, we evaluated the safety and efficacy of allogeneic SCB in Japanese children with CP.</div></div><div><h3>Methods</h3><div>A single-arm pilot study of a single intravenous dose of HLA-matched or partially matched (at least 4/6 HLA molecular matches) SCB was conducted in five Japanese patients with CP (5.0–6.3 years old). The primary endpoint was to measure the safety profiles and assessment of motor function and neurodevelopmental behaviors as the secondary endpoint.</div></div><div><h3>Results</h3><div>No serious side effects or concerning infusion reactions were observed. All patients showed a mean improvement of 4.89 ± 4.01 points in Gross Motor Function Measure-66 (GMFM-66) score at 6 months, which was better than predicted by age and severity of disease. In addition, GMFM-66 scores at 1 and 2 years was further improved by a mean of 6.49 ± 3.58 and 7.93 ± 4.26 points, respectively. One case showed improvement in the Developmental Quotient (DQ) overall and language/social scales and another case showed improvement in the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) overall, language. No significant correlations were found between GMFM-66 scores, DQ scales, WISC-IV scores and HLA concordance or number of cells administered.</div></div><div><h3>Conclusion</h3><div>Allogeneic SCB administration is safe and feasible in Japanese CP patients and may offer therapeutic potential in clinical practice. Future study is needed to clarify several unclear issues.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104443"},"PeriodicalIF":1.3,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145082597","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":"Corrigendum to Reply to \"Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care\" [Brain Dev. 47(5) (2025) 104425].","authors":"Unal Akca, Gulfer Akca, Şeyma Karatekin","doi":"10.1016/j.braindev.2025.104441","DOIUrl":"https://doi.org/10.1016/j.braindev.2025.104441","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":" ","pages":"104441"},"PeriodicalIF":1.3,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145076726","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":"Response to the letter to the editor titled “diagnostic clarification and exclusion of differential diagnoses in pediatric acute encephalopathy” regarding: “National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study”","authors":"Taku Omata,&nbsp;Jun-ichi Takanashi","doi":"10.1016/j.braindev.2025.104432","DOIUrl":"10.1016/j.braindev.2025.104432","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104432"},"PeriodicalIF":1.3,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145060560","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":"Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements","authors":"Nanae Kawano,&nbsp;Tomoki Maeda,&nbsp;Osamu Kobayashi,&nbsp;Masanori Inoue,&nbsp;Kenji Ihara","doi":"10.1016/j.braindev.2025.104433","DOIUrl":"10.1016/j.braindev.2025.104433","url":null,"abstract":"<div><h3>Aim</h3><div>To clarify the association between characteristics of early infantile general movements (GMs) and clinical background factors, including brain morphological characteristics, in very-low-birth-weight infants (VLBWIs).</div></div><div><h3>Methods</h3><div>GMs were scored using the motor optimality score revised (MOS-R) at a post-term age of 9–20 weeks. The MOS-R is composed of the following five subscales: quality of fidgety movements (Quality FMs), movement patterns (MP), age-adequate movement repertoire (AMR), postural patterns (PP), and movement character (MC). Brain magnetic resonance imaging (MRI) at term-equivalent age was scored using a validated scoring system (MRI score). Factors affecting the MOS-R were investigated using a multiple regression analysis.</div></div><div><h3>Subjects</h3><div>Ninety-five VLBWIs managed at Oita University Hospital in 2012–2023, who underwent brain MRI and GMs assessment, were included. The median gestational age at birth and birth weight were 28 weeks, 6 days and 997 g, respectively.</div></div><div><h3>Results</h3><div>The multiple regression analysis revealed that MRI score, patent ductus arteriosus (PDA) drug therapy, and sex were associated with MOS-R. In an analysis using the MOS-R subscales as dependent variables, Quality FMs were associated with MRI score and sex; MP was associated with MRI score; AMR was associated with PDA drug therapy, sex, and postnatal steroid use; PP was associated with height at the estimated date of confinement (EDC); and MC was associated with PDA drug therapy and body weight at EDC.</div></div><div><h3>Conclusion</h3><div>MOS-R is associated with brain morphological development. Its subscales are influenced by different clinical factors.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104433"},"PeriodicalIF":1.3,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145048435","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":"Parenting stress in autism spectrum disorder: A comparative analysis with other developmental disabilities","authors":"Jung Sook Yeom ,&nbsp;Young-Soo Kim","doi":"10.1016/j.braindev.2025.104436","DOIUrl":"10.1016/j.braindev.2025.104436","url":null,"abstract":"<div><h3>Objective</h3><div>To compare parenting stress between parents of children with autism spectrum disorder (ASD) and other developmental disabilities (DDs) and to examine ASD's influence on parenting stress through mediation analysis.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed 48 children with ASD (ASD group) and 77 with non-ASD DDs (non-ASD group), along with one of their parents, at the Gyeongsang National University Hospital between May 2021 and August 2024. All underwent developmental assessments and completed the Korean version of the Parenting Stress Index-4 and the Child Interactive Behavior Test (CIBT).</div></div><div><h3>Results</h3><div>The ASD group's median age was 37.5 months, with 37 boys (77.1 %). No significant difference was found in child age, sex, or parental demographics between the groups. Total parenting stress was significantly higher in the ASD group (<em>p</em> = 0.01), primarily due to higher child domain scores (<em>p</em>&lt;0.01) than in the non-ASD group. Among the child domain subscales, Distractibility/Hyperactivity, Adaptability, Reinforces Parent, and Acceptability were significantly higher in the ASD group, while only the Attachment subscale differed in the parent domain. For high parenting stress (&gt;85th percentile), Initiative Interaction—a CIBT subscale—was the only independent predictor, rather than ASD diagnosis. Mediation analysis showed no direct effect of ASD on parenting stress (β = 4.28, <em>p</em> = 0.42) but an indirect effect via reduced initial interaction (β = 3.68, <em>p</em>&lt;0.05).</div></div><div><h3>Conclusions</h3><div>Parenting stress was higher in the ASD group, mainly due to child-related factors. ASD influenced parenting stress indirectly through reduced initiative interaction. These findings provide further insight into parenting stress in families of children with ASD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104436"},"PeriodicalIF":1.3,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145019109","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":"Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances","authors":"Keiko Ishigaki ,&nbsp;Mariko Taniguchi-Ikeda","doi":"10.1016/j.braindev.2025.104437","DOIUrl":"10.1016/j.braindev.2025.104437","url":null,"abstract":"<div><div>Fukuyama congenital muscular dystrophy (FCMD, a severe form of muscular dystrophy characterized by brain structural anomalies and ocular complications due to neuronal migration disorders, is notably limited mainly to Japan. Ninety percent of patients are unable to walk throughout their lives and die before the age of 20 due to respiratory failure and cardiomyopathy. At present, there is no cure. The founder variant, a 3-kb insertion in <em>FKTN</em>, is an SVA (SINE-VNTR-<em>Alu</em>) retrotransposon, and FCMD is a splicing disorder attributable the exon trapping function of this retrotransposon. A splicing modulation therapy targeting exon-trapping based on using antisense nucleic acids to block abnormal splicing is under development, and clinical trials have begun. Additionally, it was clarified that the gene product of <em>FKTN</em> is a glycosyltransferase that transfers ribitol-5-phosphate from cytidine diphosphate ribitol, a precursor for the synthesis of the <em>O</em>-mannosyl glycans of α-dystroglycan, a cell membrane component. This finding raises hopes for a prodrug therapy. Though patient numbers were small, previous clinical studies suggested that steroids are effective in FCMD. Thus, phase II clinical trials are underway with the aim of obtaining insurance approval. This review provides an overview of the clinical course and current status of treatments being developed for FCMD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104437"},"PeriodicalIF":1.3,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145003692","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":"Integrating optical and behavioral measures in fNIRS visual search studies","authors":"Muhammad Mudasir Atif ,&nbsp;Rohin Kumar","doi":"10.1016/j.braindev.2025.104438","DOIUrl":"10.1016/j.braindev.2025.104438","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104438"},"PeriodicalIF":1.3,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145003693","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":"Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances","authors":"Hitoshi Osaka ,&nbsp;Ken Inoue","doi":"10.1016/j.braindev.2025.104426","DOIUrl":"10.1016/j.braindev.2025.104426","url":null,"abstract":"<div><div>Hypomyelinating leukodystrophies (HLDs) are a group of inherited disorders characterized by impaired myelin formation in the central nervous system. Among them, Pelizaeus-Merzbacher disease (PMD) is a well-defined X-linked leukodystrophy caused by mutations in the <em>PLP1</em> gene, including duplications, missense variants, and null mutations. Recent studies have revealed that different types of <em>PLP1</em> mutations lead to distinct pathomechanisms: while missense mutations induce endoplasmic reticulum stress and activate the unfolded protein response (UPR), <em>PLP1</em> duplications cause aberrant intracellular trafficking and cholesterol accumulation without UPR activation. Additionally, mutations in other genes such as <em>GJC2</em>, <em>SOX10</em>, <em>TUBB4A</em>, and <em>POLR3A/B</em> have been implicated in various forms of HLD, each with unique clinical and imaging features. Advances in neuroimaging and next-generation sequencing have enabled more accurate and earlier diagnosis, expanding the clinical spectrum and deepening our understanding of disease mechanisms. This review summarizes the current knowledge on the molecular pathogenesis, genotype–phenotype correlations, and diagnostic approaches in HLDs, with an emphasis on recent biological insights that may inform future therapeutic strategies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104426"},"PeriodicalIF":1.3,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145003691","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}