Brain & Development最新文献

{"title":"Letter to the editor: Immune dysregulation in new-onset refractory status epilepticus (NORSE): current insights and therapeutic perspectives","authors":"Parth Aphale , Shashank Dokania , Himanshu Shekhar","doi":"10.1016/j.braindev.2025.104422","DOIUrl":"10.1016/j.braindev.2025.104422","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104422"},"PeriodicalIF":1.3,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144864101","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":"Spinal Tuina ameliorates cerebral palsy-associated neural impairment in hypoxia-ischemia model rats via BMSC-derived exosomal microRNAs","authors":"Suyu Chen ,&nbsp;Yiping Chen ,&nbsp;Min Li ,&nbsp;Lin Gao ,&nbsp;Sihan Liu ,&nbsp;Yongli Li ,&nbsp;Chenggui Xu ,&nbsp;Yujing Zhang ,&nbsp;Cunxiao Guo ,&nbsp;Xiantao Tai","doi":"10.1016/j.braindev.2025.104421","DOIUrl":"10.1016/j.braindev.2025.104421","url":null,"abstract":"<div><h3>Background</h3><div>Spinal Tuina is effective for cerebral palsy (CP), but its molecular mechanism remains unclear. Prior studies indicate that acupoint stimulation regulates miRNAs in bone marrow mesenchymal stem cell-derived exosomes (BMSCs-Exo) to promote brain repair. This study explores whether Spinal Tuina treats CP via a similar mechanism.</div></div><div><h3>Methods</h3><div>A neonatal hypoxic-ischemic (HI) model was established in 3-day-old Sprague-Dawley rats via left common carotid artery ligation and hypoxia, followed by standardized Tuina. BMSCs were extracted via adherence separation, and exosomes were isolated by ultracentrifugation. Tuina's effects on BMSC proliferation (colony formation assay) and exosome release nanoparticle tracking analysis, were assessed. High-throughput miRNA sequencing, qRT-PCR, and bioinformatics identified differentially expressed miRNAs and their regulatory pathways.</div></div><div><h3>Results</h3><div>HI + Tuina rats showed improved affected-limb motor function. BMSCs from the HI + Tuina group exhibited elevated fibroblast colony-forming units and exosome concentrations compared to HI Untreated and Sham groups. Among differentially expressed miRNAs in BMSCs-Exo, 14 were upregulated in HI + Tuina vs. HI Untreated, with mir-150-5p highlighted as a key regulator. Kyoto encyclopedia of genes and genomes analysis revealed target gene enrichment in mitogen-activated protein kinase (MAPK), tumor necrosis factor (TNF), axon guidance, and Hippo signaling pathways.</div></div><div><h3>Conclusion</h3><div>Spinal Tuina improves motor function in HI rats, enhances BMSC proliferation and exosome release, and regulates exosomal miRNAs. MiR-150-5p is a critical mediator, with differentially expressed miRNAs potentially modulating inflammation, neurodevelopment, and cell survival in HI-induced CP.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104421"},"PeriodicalIF":1.3,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144864100","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":"2025-08-15","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":"Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants","authors":"Metin Eser ,&nbsp;Gulam Hekimoglu ,&nbsp;Busra Kutlubay","doi":"10.1016/j.braindev.2025.104418","DOIUrl":"10.1016/j.braindev.2025.104418","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy, a neurological disease characterized by recurrent seizures, is highly heterogeneous in nature. The objective is to demonstrate that epilepsy is a complex neurodisorder influenced by multiple gene mutations and to advance genetic therapies through the discovery of novel variants.</div></div><div><h3>Methods</h3><div>In our study, 89 people with epilepsy of unknown cause were examined using the Sophia DDM® data analysis platform. Pepper®, Sophia Genetics' proprietary foundation algorithm, was used for alignment and variation detection in accordance with the hg19 human genome reference.</div></div><div><h3>Results</h3><div>A total of 97 epilepsy-related gene variants were identified, which correlated well with the phenotypes. Eleven (13 %) pathogenic and likely pathogenic variants, including those in the <em>DEPDC5</em>, <em>OPHN1</em>, <em>SHANK3</em>, <em>DYNC1H1</em>, <em>KCNQ1</em>, <em>ADGRV1</em>, <em>CHD2</em>, <em>GNB1</em>, <em>PDHX</em>, and <em>SCARB2</em> genes, were detected. 5 (6 %) of patients carried new variants. Two new variants in the <em>ADGRV1</em> gene were c.14662-2A&gt;G splicing heterozygous variants. The other two were in genes <em>DEPDC5</em>, c.2319_2320del (p.Cys774Leufs*2) frameshift heterozygous, and <em>CHD2</em> c.1957del (p.Leu653Serfs*41) frameshift heterozygous variants. The last <em>PDHX</em> c.1159C&gt;T (p.Gln387*) nonsense homozygous variant was confirmed by Sanger sequencing, and a family segregation study was performed and observed as heterozygous in the parents. It was not previously described in the literature and was defined as a new variant. The other 86 were detected as variants of uncertain significance (VUS).</div></div><div><h3>Conclusions</h3><div>We identified several novel and pathogenic variants across multiple genes associated with epilepsy, highlighting the genetic diversity and complexity of this condition. These findings underscore the importance of integrating genetic analysis into clinical practice for tailored interventions.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104418"},"PeriodicalIF":1.3,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144841323","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":"Characteristics of visual search and brain activity in Japanese elementary schoolchildren: A cross-sectional study using functional near-infrared spectroscopy.","authors":"Koji Yano, Akiko Suzuki, Yachun Qian, Akiko Megumi, Jungpil Shin, Makoto Wada, Akira Yasumura","doi":"10.1016/j.braindev.2025.104401","DOIUrl":"https://doi.org/10.1016/j.braindev.2025.104401","url":null,"abstract":"<p><strong>Introduction: </strong>Visual search is a crucial behavior that supports learning, work, and other daily activities. However, the specific characteristics of visual search and the associated brain activity in Japanese elementary school children have not been thoroughly investigated. This study aimed to elucidate these characteristics by examining visual search behavior and prefrontal cortex (PFC) activity in this population.</p><p><strong>Methods: </strong>Seventy-one schoolchildren were divided into three age groups (7-8 years, 9-10 years, and 11-12 years). Their PFC activity was measured using functional near-infrared spectroscopy (fNIRS) while they performed a cancellation task under two conditions: a structured array and a random array. Visual search behavior was evaluated using multiple indices, including the number of correct responses and the ratio of intersections, analyzed from multiple perspectives.</p><p><strong>Results: </strong>The number of correct responses reflecting visual search processing ability, was significantly higher in the older age group. The ratio of intersections, an index of the systematicity of visual search, was significantly lower in the structured array condition compared to the random array condition, but only in the 11-12-year-old group. Additionally, this group showed significantly greater PFC activation during the structured array condition than during the random array, whereas the younger groups exhibited the opposite pattern.</p><p><strong>Conclusion: </strong>These findings suggest a developmental relationship between the systematicity of visual search and changes in PFC activity. A multifaceted approach combining physiological and behavioral measures may offer deeper insights into the characteristics of visual search in elementary school children.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":" ","pages":"104401"},"PeriodicalIF":1.3,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144849705","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":"Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment","authors":"Tamaki Kato ,&nbsp;Noriko Otsuki ,&nbsp;Mamoru Yokomura ,&nbsp;Naoko Shima ,&nbsp;Kota Kajima ,&nbsp;Moeka Shioya ,&nbsp;Hayato Suzuki ,&nbsp;Hidetaka Wakabayshi ,&nbsp;Kayoko Saito","doi":"10.1016/j.braindev.2025.104410","DOIUrl":"10.1016/j.braindev.2025.104410","url":null,"abstract":"<div><h3>Background</h3><div>The clinical use of three disease-modifying drugs approved in Japan for the treatment of spinal muscle atrophy (SMA) has increased. Therefore, there is an increasing need for biomarkers to evaluate therapeutic interventions.</div></div><div><h3>Methods</h3><div>Individuals were treated with risdiplam (25 patients, male:female =12:13) and evaluated before starting the medication and after 1, 2, 5, 8, and 12 months. Assessments included the Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), compound muscle action potential (CMAP) of the ulnar and peroneal nerves, and spinal muscular atrophy independence scale upper limb module (SMAIS-ULM) questionnaire scores of the patient and caregiver. Blood tests and survival motor neuron (SMN) protein levels were also evaluated.</div></div><div><h3>Results</h3><div>The HFMSE and RULM scores increased significantly at 5 (<em>p</em> = 0.058 and <em>p</em> = 0.003, respectively), 8 (<em>p</em> = 0.024 and <em>p</em> = 0.016, respectively), and 12 months (<em>p</em> = 0.034 and <em>p</em> = 0.046, respectively). Peroneal CMAP scores also increased at eight months (<em>p</em> = 0.038) compared with those before treatment initiation. SMN protein levels were elevated after one month of treatment (<em>p</em> = 0.001) and were maintained throughout the observation period.</div></div><div><h3>Conclusions</h3><div>Median SMN protein levels increased significantly after one month of risdiplam administration with some fluctuations. After five months of treatment, motor function, CMAP, and SMAIS-ULM caregiver scores improved. SMN protein is an appropriate biomarker for monitoring and evaluating the efficacy of risdiplam treatment in SMA.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104410"},"PeriodicalIF":1.3,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144809972","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":"https://doi.org/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":"2025-08-09","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":"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":"https://doi.org/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":"2025-08-09","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":"When neutral isn't negative: missteps in survey data analysis.","authors":"Prateek Kumar Panda, Indar Kumar Sharawat","doi":"10.1016/j.braindev.2025.104417","DOIUrl":"https://doi.org/10.1016/j.braindev.2025.104417","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104417"},"PeriodicalIF":1.3,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818405","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":"Three cases of acute encephalopathy with biphasic seizures and late reduced diffusion predominantly manifesting generalized involuntary movements in the chronic phase.","authors":"Azusa Matsubara, Shodo Hirano, Naomi Okuyama, Satori Hirai, Yukihiro Kitai, Hiroshi Arai","doi":"10.1016/j.braindev.2025.104413","DOIUrl":"https://doi.org/10.1016/j.braindev.2025.104413","url":null,"abstract":"<p><strong>Background: </strong>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) usually has a favorable gross motor prognosis, and involuntary movements that occur after AESD are transient, typically resolving spontaneously during the recovery phase.</p><p><strong>Case presentation: </strong>Three male patients without any underlying disease or history of perinatal insults developed AESD between 10 and 12 months of age. Case 1 remained choreoathetosis, dystonia, and ataxia, with the choreoathetosis resolving six years after onset. By age 10, he could sit without support and crawl but could not walk independently due to ataxia. Case 2 exhibited persistent athetosis in all four limbs and the trunk. He could not sit without support and required full assistance for movement at age 8. Case 3 displayed athetosis in all four limbs at age 4. He could sit without support and crawl but was unable to walk independently. All patients regained their ability to consume food orally but had severe intellectual disability. Case 1 and 2 developed mild scoliosis. Abnormal findings were observed in the basal ganglia or thalami on magnetic resonance imaging (MRI) or single-photon emission computed tomography (SPECT) scans during acute or subacute phase for all patients.</p><p><strong>Discussion: </strong>We reported three patients with gross motor dysfunction caused by persistent involuntary movements, deviating from the usual clinical progression of AESD. In cases where MRI or SPECT revealed basal ganglia abnormalities, it is crucial to consider the possibility of late involuntary movements, and to plan suitable rehabilitation and environmental modifications to alleviate motor dysfunction and scoliosis.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104413"},"PeriodicalIF":1.3,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818404","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}