Brain & Development最新文献

{"title":"Reply to “Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care”","authors":"Unal Akca , Gulfer Akca , 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}

{"title":"Decoding the pathophysiological role of fukutin in Fukuyama congenital muscular dystrophy","authors":"Christian Messina","doi":"10.1016/j.braindev.2025.104451","DOIUrl":"10.1016/j.braindev.2025.104451","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104451"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145093135","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 “When details matter: Critical considerations in the study of meningitis”","authors":"Nihal Akçay","doi":"10.1016/j.braindev.2025.104462","DOIUrl":"10.1016/j.braindev.2025.104462","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104462"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246062","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":"2025-10-01","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}

{"title":"Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy","authors":"Masayuki Sasaki","doi":"10.1016/j.braindev.2025.104404","DOIUrl":"10.1016/j.braindev.2025.104404","url":null,"abstract":"<div><div>We reviewed published articles on representative inherited cerebral white matter disorders that develop in childhood. In this paper, we described demyelinating disorders (adrenoleukodystrophy, globoid cell leukodystrophy or Krabbe disease, and metachromatic leukodystrophy), astrocytic disorders (Alexander disease and vanishing white matter disease), and disorders of water homeostasis in the myelin sheath (megalencephalic leukoencephalopathy with subcortical cysts and <em>CLCN2</em>-related leukoencephalopathy). The causes, symptoms, diagnostic imaging, and forefront of treatment for these disorders are discussed. Each disease is rare and progressive. Although the number of analyzed cases is very small, establishing a radical treatment is still necessary. We do hope that the patients with these disorders could be treated completely in the near future.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104404"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722530","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":"Duchenne muscular dystrophy: Evolving therapeutic strategies and multidimensional evaluation approaches","authors":"Hirofumi Komaki","doi":"10.1016/j.braindev.2025.104397","DOIUrl":"10.1016/j.braindev.2025.104397","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is a severe X-linked muscular disorder caused by the absence of dystrophin. Standard therapies prolong survival; however, there is an increasing need for disease-modifying approaches and sensitive evaluation tools. This review presents a summary of the recent advances in DMD therapeutic strategies and multidimensional evaluation approaches, emphasizing their clinical applicability and future perspectives. In this study, a comprehensive review of the current literature was conducted focusing on mutation-specific therapies (exon skipping and gene therapy), non-mutation-specific pharmacological interventions (steroids, vamorolone, and histone deacetylase inhibitors), and emerging modalities such as cell-based therapy. The clinical outcome measures used across the disease stages were also examined, ranging from functional motor tests and imaging biomarkers to digital endpoints and quality of life (QOL) indices. Exon skipping and microdystrophin gene therapies have shown promising results in restoring partial dystrophin expression. Vamorolones and givinostat are alternative drugs with improved safety profiles. Time-based motor tests (such as time to sand, 10 m run) and digital biomarkers (Stride Velocity 95th Centile) enable the earlier detection of disease progression. Natural history data, including large registry-based datasets, enhance the interpretation of clinical trials. Patient-reported outcomes and disease-specific QOL measures, such as the DMD-QoL, are increasingly being incorporated to assess meaningful treatment benefits. The therapeutic landscape of DMD is evolving toward combination and personalized approaches. Multidimensional stage-specific evaluations are essential to capture functional changes and their therapeutic effects. Ongoing research on gene-, pharmacological-, and cell-based therapies, coupled with robust outcome assessments, may further improve patient care and QOL.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104397"},"PeriodicalIF":1.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704644","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":"Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care","authors":"Zhaomei Li ,&nbsp;Wenxin Wang","doi":"10.1016/j.braindev.2025.104419","DOIUrl":"10.1016/j.braindev.2025.104419","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104419"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144841324","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":"2025-10-01","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":"Effect of vitamin administration on the prevention of acute encephalopathy with biphasic seizures and late reduced diffusion.","authors":"Tatsuya Takahashi, Yuichi Abe, Itaru Hayakawa, Saeko Irie, Nobuaki Tsuiki, Atsushi Nishioka, Hiroto Ida, Tsuyoshi Aihara, Kentaro Ide","doi":"10.1016/j.braindev.2025.104415","DOIUrl":"10.1016/j.braindev.2025.104415","url":null,"abstract":"<p><strong>Objective: </strong>This study examined whether encephalopathy vitamin therapy (EVT) with vitamins B1, B6, and carnitine, administered following febrile status epilepticus (FSE), could prevent acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), improve neurological outcomes, and reduce pediatric intensive care unit (PICU) length of stay.</p><p><strong>Methods: </strong>We conducted a single-center retrospective cohort study comparing patients hospitalized with suspected post-FSE acute encephalopathy and treated with EVT (2016-2022) with a historical control group of patients who did not receive EVT (2009-2010). The primary endpoint was the incidence of AESD, and the secondary endpoints were a ≥2-point worsening in the Pediatric Cerebral Performance Category (PCPC) score at PICU discharge and a decrease in PICU length of stay.</p><p><strong>Results: </strong>The AESD incidence did not differ significantly between 43 EVT cases and 14 controls (47 % vs. 57 %, p = 0.55), even with early EVT cases starting within 24 h of the inaugural seizure (43 % vs. 57 %, p = 0.53). EVT was associated with a lower rate of ≥2-point worsening in the PCPC score (23 % vs. 57 %, p = 0.025). Moreover, EVT was associated with significantly shorter PICU length of stay (median 7.0 vs. 13.5 days; p = 0.0012).</p><p><strong>Conclusion: </strong>EVT may mitigate acute neurological deterioration and shorten PICU length of stay; however, it has limited preventive efficacy against AESD, especially in severe cases.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104415"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818403","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 features and prognostic factors of group B Streptococcus Meningitis in infants","authors":"Wenjie Li ,&nbsp;Xueqian Xia ,&nbsp;Lingyu Zhang ,&nbsp;Xiaoling Peng ,&nbsp;Li Jiang ,&nbsp;Yue Hu","doi":"10.1016/j.braindev.2025.104398","DOIUrl":"10.1016/j.braindev.2025.104398","url":null,"abstract":"<div><h3>Purpose</h3><div>To summarize the clinical features of group B streptococcus (GBS) meningitis in infants and identify the risk factors for poor prognosis.</div></div><div><h3>Methods</h3><div>The clinical data of 52 infants with GBS meningitis treated at Children's Hospital of Chongqing Medical University from January 2012 to December 2021 were retrospectively analyzed.</div></div><div><h3>Results</h3><div>A total of 48 infants (48/52, 92.3 %) presented with symptom onset at ≤90 days of age. Among 52 patients, the most prevalent clinical manifestations were fever (98.1 %), altered mental status (84.6 %) and decreased appetite (63.5 %). Subdural effusion (30/52, 57.7 %) was the most common neurological complication. One patient (1.9 %) died from cerebral herniation. Positive blood culture alone was observed in 41 cases (78.8 %), isolated cerebrospinal fluid (CSF) culture positivity in 5 (9.6 %), and dual blood-CSF culture positivity in 6 (11.5 %). The median hospital stay was 33 days. The most frequently administered antibiotic regimens were vancomycin combined with carbapenems (18/52, 34.6 %) and vancomycin plus third-generation cephalosporins (15/52, 28.8 %). Univariate analysis indicated an association between glucocorticoid use and clinical outcomes; however, multivariate analysis yielded no statistically significant variables (<em>P</em> &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>GBS meningitis is most common in infants below 3 months. Both clinical manifestations and ancillary tests may be nonspecific, and definitive diagnosis relies on etiological confirmation. The risk of neurological complications is high.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104398"},"PeriodicalIF":1.4,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704646","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}