Brain & Development最新文献

{"title":"Understanding Cancer risk in severe motor and intellectual disabilities: The role of external influences","authors":"Christian Messina","doi":"10.1016/j.braindev.2025.104439","DOIUrl":"10.1016/j.braindev.2025.104439","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104439"},"PeriodicalIF":1.3,"publicationDate":"2025-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145003694","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":"Unpacking the genetic landscape of epilepsy: key considerations for future research and clinical translation","authors":"Junlong Chen , Tianle Zheng , Jialin Liu","doi":"10.1016/j.braindev.2025.104429","DOIUrl":"10.1016/j.braindev.2025.104429","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104429"},"PeriodicalIF":1.3,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144917818","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":"Erratum regarding previously published articles.","authors":"","doi":"10.1016/j.braindev.2025.104430","DOIUrl":"https://doi.org/10.1016/j.braindev.2025.104430","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":" ","pages":"104430"},"PeriodicalIF":1.3,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980086","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: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis”","authors":"Tomokazu Kimizu , Saki Yokawa , Keiko Yanagihara","doi":"10.1016/j.braindev.2025.104431","DOIUrl":"10.1016/j.braindev.2025.104431","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104431"},"PeriodicalIF":1.3,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144912609","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 the “letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’”","authors":"Yu Aihara , Eri Takeshita , Hirofumi Komaki","doi":"10.1016/j.braindev.2025.104427","DOIUrl":"10.1016/j.braindev.2025.104427","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104427"},"PeriodicalIF":1.3,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144907497","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":"Recognizing ataxia requiring intervention: a retrospective cohort study of poor prognostic factors in pediatric emergency department patients","authors":"Tsuyoshi Aihara ,&nbsp;Shunsuke Amagasa ,&nbsp;Itaru Hayakawa ,&nbsp;Yuichi Abe ,&nbsp;Satoko Uematsu","doi":"10.1016/j.braindev.2025.104428","DOIUrl":"10.1016/j.braindev.2025.104428","url":null,"abstract":"<div><h3>Purpose</h3><div>We aimed to explore the potential prognostic factors associated with poorer outcomes in pediatric patients presenting with acute-onset ataxia to guide early intervention.</div></div><div><h3>Methods</h3><div>This single-center retrospective cohort study was conducted at the National Center for Child Health and Development between January 2014 and May 2024. Pediatric patients aged 0–18 years who presented with acute-onset ataxia within 7 days of symptom onset were included, excluding those with pre-diagnosed causes of ataxia. Patients were divided into two groups based on their final diagnosis and prognosis: the benign acute cerebellar ataxia (ACA) group for low-risk patients and the clinically urgent neurological pathology (CUNP) group for high-risk patients. Statistical analyses, including chi-square tests and multivariate logistic regression, were performed to identify prognostic factors.</div></div><div><h3>Results</h3><div>In total, 59 children were included: 34 in the benign ACA group and 25 in the CUNP group. Univariate analysis showed significant differences in headache, vomiting, tremors or dysmetria, age ≥ 5 years, and symptom persistence beyond 3 days between the two groups. Multivariate analysis indicated that age ≥ 5 years (odds ratio [OR] 22.2, 95 % confidence interval [CI] 1.8–640.2) and symptom persistence over 3 days (OR 8.1, 95 % CI 1.5–68.6) were significantly associated with poorer outcomes.</div></div><div><h3>Conclusion</h3><div>Pediatric patients aged ≥5 years with symptoms persisting for more than 3 days are more likely to require treatment or develop sequelae. Early diagnostic evaluation is important in such cases to avoid delayed intervention.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104428"},"PeriodicalIF":1.3,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144893124","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":"2025-08-22","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}

{"title":"Gene therapy for Duchenne muscular dystrophy","authors":"Yuko Shimizu-Motohashi","doi":"10.1016/j.braindev.2025.104424","DOIUrl":"10.1016/j.braindev.2025.104424","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by variants of the <em>DMD</em> that leads to progressive muscle degeneration. Recent advances in gene therapy have opened new therapeutic avenues, particularly through the use of adeno-associated virus (AAV)-mediated micro-dystrophin delivery. Delandistrogene moxeparvovec, the first FDA-approved gene therapy for DMD, has demonstrated transgene expression and potential functional improvement in early phase trials, although its long-term efficacy, durability, and safety remain unconfirmed. Immune-mediated toxicities including myositis, myocarditis, and liver injury present significant clinical challenges, prompting the need for careful patient selection, immunoprophylaxis, and post-treatment monitoring. In addition to micro-dystrophin replacement, novel gene therapy approaches such as endogenous dystrophin upregulation, exon skipping, and adjunctive muscle-enhancement strategies are being explored. Future studies focus on overcoming vector size limitations by using dual/triple AAV systems or non-viral platforms, improving muscle tropism through capsid and promoter engineering, and expanding eligibility through desensitization protocols. This review provides an integrated overview of the current progress, challenges, and future perspectives in gene therapy for DMD, with the aim of supporting its safe and effective clinical implementation.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104424"},"PeriodicalIF":1.3,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144887560","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":"EEG microstate-based static and dynamic brain functional network differences in autism spectrum disorder children and tDCS interventional modulation","authors":"Jiannan Kang ,&nbsp;Xiaoke Yang ,&nbsp;Liang Zhang ,&nbsp;Xiaoli Li ,&nbsp;Shukai Zheng ,&nbsp;Xiaoyan Tian","doi":"10.1016/j.braindev.2025.104423","DOIUrl":"10.1016/j.braindev.2025.104423","url":null,"abstract":"<div><h3>Background</h3><div>Autism has garnered significant attention due to its abnormal brain network function.</div></div><div><h3>Methods</h3><div>EEG microstates are brief, stable patterns of brain activity during rest, lasting 80–120 milliseconds before rapidly transitioning to new configurations. A static brain functional network was constructed based on microstates, and the static brain functional network was further quantified using fuzzy entropy to build a dynamic brain functional network. The techniques thoroughly assessed how children with autism spectrum disorder (ASD) and typically developing (TD) brain networks differed from two angles: microstate static functional connectivity and dynamic temporal variability. These features were used in a support vector machine classification model to distinguish ASD children. Additionally, the impact of transcranial direct current stimulation (tDCS) on the brain functional network of ASD children was also assessed using this approach.</div></div><div><h3>Results</h3><div>The static functional connectivity of microstate A in ASD children was significantly lower than that of TD children, while the static functional connectivity of microstate D was significantly higher in the ASD group. The dynamic functional connectivity of microstates A, B, C, and D in the ASD group was significantly reduced across the whole brain. The support vector machine (SVM) classification accuracy based on these features was 96.33 %. Furthermore, after tDCS intervention, ASD children showed a trend of increased static functional connectivity in microstates A and C, as well as a tendency for increased dynamic functional connectivity in microstates A, B, and D.</div></div><div><h3>Conclusion</h3><div>A notable disparity was observed between children diagnosed with ASD and TD regarding their static and dynamic brain networks. The excellent classification results were achieved. Furthermore, it was discovered that the tDCS intervention altered the children with ASD's static and dynamic brain networks.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104423"},"PeriodicalIF":1.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144879431","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":"Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India","authors":"Vykuntaraju K. Gowda ,&nbsp;Annsmol P. Markose ,&nbsp;Varunvenkat M. Srinivasan ,&nbsp;Uddhava V. Kinhal ,&nbsp;Runa Hamid","doi":"10.1016/j.braindev.2025.104420","DOIUrl":"10.1016/j.braindev.2025.104420","url":null,"abstract":"<div><h3>Background</h3><div>Neurotransmitter disorders are a group of heterogeneous conditions that comprise defects in synthesis, transport, receptor binding, and degradation of neurochemical messengers. These rare disorders range from mild intermittent dystonia to lethal encephalopathies. The natural history and clinical presentation remain far from established.</div></div><div><h3>Objectives</h3><div>The study was conducted between October 2015 and September 2024. This study aims to describe the spectrum of clinical presentation, laboratory, imaging features, and genetic profiles of children diagnosed with neurotransmitter disorders and to assess the treatment modalities and clinical outcomes in these children.</div></div><div><h3>Results</h3><div>Among 29 patients, the median age was 12 months, with a male predominance. Positive family history was noted in 9 cases. The most frequent presentation was global developmental delay (GDD), dystonia, and seizures with autonomic disturbances, with diurnal variation. Various subcategories of neurotransmitter disorders are aromatic L amino acid decarboxylase deficiency-7 cases, tyrosine hydroxylase deficiency-3 cases, dopamine transporter deficiency syndrome-1 case, vesicular monoamine transporter 2 deficiency (VMAT2)-2 cases, GTP cyclohydrolase type deficiency-1 case, 6-pyruvoyl-tetrahydropterin synthase deficiency-1 case, dihydropteridine reductase deficiency-3, sepiapterin reductase deficiency-1 case, glycine encephalopathy-1 case, <em>FOLR1-</em>related cerebral folate transport deficiency-3 cases, and succinic semialdehyde dehydrogenase deficiency-5 cases. Metabolic workups were normal in all cases, with elevated phenylalanine levels in tandem mass spectrometry (TMS) in 5 children. Neuroimaging and electroencephalogram (EEG) were abnormal in 7 and 5 children, respectively. Multi-pronged and early treatment ensured better outcomes in these children.</div></div><div><h3>Conclusion</h3><div>The most common type of neurotransmitter disorder in our series was aromatic L-amino acid decarboxylase deficiency, with the most common presentation being global developmental delay and dystonia.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104420"},"PeriodicalIF":1.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144879432","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}