Brain & Development最新文献

{"title":"Reply to “Integrating optical and behavioral measures in fNIRS visual search”","authors":"Koji Yano , Makoto Wada , Akira Yasumura","doi":"10.1016/j.braindev.2025.104450","DOIUrl":"10.1016/j.braindev.2025.104450","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104450"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152072","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":"2025-10-01","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":"Cancers in an aging population with severe motor and intellectual disabilities: a single-center retrospective cohort study.","authors":"Hiroshi Terashima, Yoshiaki Saito, Nagahisa Takahashi, Masashi Mizuguchi, Eiji Kitazumi","doi":"10.1016/j.braindev.2025.104416","DOIUrl":"10.1016/j.braindev.2025.104416","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the characteristics of cancers in aging individuals with severe motor and intellectual disabilities (SMID).</p><p><strong>Methods: </strong>This is a retrospective cohort study conducted at a single center. Clinical records of 186 individuals residing in the SMID ward between January 2002 and December 2022 were reviewed. For colorectal cancer, which showed high incidence, statistical comparisons were performed with an age- and sex-matched non-cancer control group.</p><p><strong>Results: </strong>Among 48 recorded deaths, cancer was the most common cause (13 cases, 27 %; median age at death, 57 years), followed by pneumonia (12 cases, 25 %; median age at death, 51 years). Among the 20 patients diagnosed with cancers (affecting 22 organs), colorectal cancer accounted for eight cases (36 %) and breast cancer for six cases (27 %). The standardized incidence ratios for both cancers exceeded 1. Colorectal cancer incidence was significantly associated with frequent gross hematochezia and the number of preceding years with positive fecal occult blood test results, as well as marginally with the frequency of enemas. Four patients with colorectal cancer underwent surgery, and three were alive at the end of the study period.</p><p><strong>Conclusion: </strong>As individuals with SMID age, cancer has become a leading cause of death. The incidence rates of colorectal and breast cancers exceed those in the general population. It is justifiable to apply the same screening protocols to this population as in the general population, but strategies to enhance diagnostic specificity and reduce the invasiveness of confirmatory tests are desirable. Surgical treatment for colorectal cancer may improve the survival outcomes.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104416"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818402","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":"Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges","authors":"Daniel Matovu","doi":"10.1016/j.braindev.2025.104460","DOIUrl":"10.1016/j.braindev.2025.104460","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104460"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202167","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":"2025-10-01","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":"An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO","authors":"Takuya Hiraide ,&nbsp;Taiju Hayashi ,&nbsp;Kaori Yamoto ,&nbsp;Yohei Masunaga ,&nbsp;Miki Asahina ,&nbsp;Tsutomu Ogata ,&nbsp;Hirotomo Saitsu ,&nbsp;Tokiko Fukuda","doi":"10.1016/j.braindev.2025.104405","DOIUrl":"10.1016/j.braindev.2025.104405","url":null,"abstract":"<div><h3>Background</h3><div>Trio rho guanine nucleotide exchange factor (<em>TRIO</em>)<em>,</em> encodes a guanine nucleotide exchange factor (GEF) that is critical for neurodevelopment and regulates Rho guanosine triphosphatase. It has been shown that missense variants in the GEF1 or GEF2 domains or loss-of-function variants in <em>TRIO</em> are associated with microcephaly while gain-of-function variants in the spectrin repeat domain result in macrocephaly. Rare cases of macrocephaly linked to missense variants in the GEF1 domain have been reported; however, clinical details remain limited.</div></div><div><h3>Case presentation</h3><div>We describe the case of a Japanese boy with macrocephaly, severe intellectual disability, distinctive facial features, scoliosis, and growth hormone deficiency. Brain magnetic resonance imaging revealed a thin corpus callosum and pituitary hypoplasia. His occipitofrontal circumference was +2.5 standard deviations above the normal range, while his height and weight were below the average. He displayed many features characteristic of <em>TRIO</em>-related neurodevelopmental disorders caused by gain-of-function variants. However, trio-based exome sequencing identified a <em>de novo</em> missense variant (instead of gain-of-function variant) in the GEF1 domain of <em>TRIO</em> (NM_007118.4:c.4104T&gt;A, p.(Asp1368Glu)).</div></div><div><h3>Conclusions</h3><div>This case expands the phenotypic spectrum of <em>TRIO</em>-related neurodevelopmental disorders, highlighting macrocephaly associated with a missense variant in the GEF1 domain. Further studies are required to clarify the functional effects of <em>TRIO</em> variants and their phenotypic consequences.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104405"},"PeriodicalIF":1.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704648","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 “Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances” [Brain Dev. 47(5) (2025) 104437]","authors":"Keiko Ishigaki ,&nbsp;Mariko Taniguchi-Ikeda","doi":"10.1016/j.braindev.2025.104459","DOIUrl":"10.1016/j.braindev.2025.104459","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104459"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182378","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":"2025-10-01","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}

{"title":"Small for gestational age as a predictor of developmental coordination disorders: Exploring early risk from Japan birth cohort consortium","authors":"Hiroyoshi Iwata ,&nbsp;Maki Tojo ,&nbsp;Kenji J. Tsuchiya ,&nbsp;Mami Ishikuro ,&nbsp;Geng Chen ,&nbsp;Satoshi Suyama ,&nbsp;Akio Nakai ,&nbsp;Naomi Tamura ,&nbsp;Toshio Yoshikawa ,&nbsp;Toyoki Yamagata ,&nbsp;Tomoko Nishimura ,&nbsp;Takeshi Yamaguchi ,&nbsp;Keiko Yamazaki ,&nbsp;Taku Obara ,&nbsp;Kazue Ishitsuka ,&nbsp;Naho Morisaki ,&nbsp;Keitaro Makino ,&nbsp;Shinichi Kuriyama ,&nbsp;Reiko Kishi","doi":"10.1016/j.braindev.2025.104435","DOIUrl":"10.1016/j.braindev.2025.104435","url":null,"abstract":"<div><h3>Background</h3><div>Small for gestational age (SGA) and developmental coordination disorder (DCD) are receiving increasing attention in pediatric development. Understanding the risk of DCD, particularly in relation to SGA, would support children's health and development. However, the relationship between SGA and DCD remains unveiled beyond single-cohort studies.</div></div><div><h3>Objectives</h3><div>This study aimed to integrate findings on DCD from different cohorts within the nationwide prospective Japanese Birth Cohort Consortium (JBiCC).</div></div><div><h3>Study design and subjects</h3><div>DCD was assessed in children aged 4 to 7 years from three birth cohorts participating in the JBiCC: the Hokkaido Study on Environment and Children's Health (Hokkaido Study), the Hamamatsu Birth Cohort for Mothers and Children (HBC Study), and the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study).</div></div><div><h3>Outcome measures</h3><div>DCD was assessed using either the Developmental Coordination Disorder Questionnaire Japanese Version (DCDQ-J) or the Ages and Stages Questionnaires Third Edition (ASQ-3). Logistic regression was used to assess the association between SGA and DCD in each cohort. Second, meta-analysis of the association between SGA and DCD defined by DCDQ-J, and individual patient data (IPD) meta-analysis of the association between SGA and DCDQ-J scores were conducted with two cohorts.</div></div><div><h3>Results and conclusions</h3><div>The analysis included 14,233 children in three cohorts. The individual cohort analyses did not explore statistical significance, except for the TMM BirThree Cohort Study. Meta-synthesis of the Hokkaido and HBC studies showed a β-coefficient of −2.63, 95 % CI [−5.22, −0.03]. IPD analysis of linear regression showed a β-coefficient of −2.76, 95 % CI [−5.38, −0.15]. Our results suggest that SGA may be a potential risk factor for DCD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104435"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145120899","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":"Reply to “Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care”","authors":"Unal Akca ,&nbsp;Gulfer Akca ,&nbsp;Seda Karatekin","doi":"10.1016/j.braindev.2025.104425","DOIUrl":"10.1016/j.braindev.2025.104425","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104425"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144887561","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}