Brain & Development最新文献

{"title":"Interaction with individuals with severe motor and intellectual disabilities and nurses' positive mental well-being","authors":"Yuto Arai ,&nbsp;Sawako Ohba ,&nbsp;Ryuki Kadekaru ,&nbsp;Tohru Okanishi ,&nbsp;Hisashi Noma ,&nbsp;Yoshihiro Maegaki","doi":"10.1016/j.braindev.2025.104461","DOIUrl":"10.1016/j.braindev.2025.104461","url":null,"abstract":"<div><h3>Background</h3><div>Severe motor and intellectual disabilities (SMID) involve intense physical and intellectual disabilities resulting in extreme dependence. Studies investigating the association between the experience of interacting with individuals with SMID and nurses' positive mental well-being are lacking. The comprehensive analysis of factors associated with the positive mental well-being of nurses who interact with individuals with SMID may enhance the nurses' quality of life and contribute to improving the quality of care provided to individuals with SMID.</div></div><div><h3>Methods</h3><div>We conducted a two-month cross-sectional online survey among 263 nurses at a university hospital in 2023. Happiness and resilience were measured using the Subjective Happiness Scale (SHS) and the short version of the Resilience Scale (RS-14), respectively. Multiple regression analysis was conducted to investigate the relationship between the interaction experience with individuals with SMID and the SHS and RS-14 scores, alongside other factors possibly influencing positive mental well-being.</div></div><div><h3>Results</h3><div>Regarding subjective happiness, no factor related to individuals with SMID was significantly associated with the SHS scores. However, regarding resilience, the number of years spent engaging with them was positively associated with the RS-14 scores [regression coefficient (B), 2.401; 95 % confidence interval (CI), 0.073 to 4.728; <em>p</em> = 0.043].</div></div><div><h3>Conclusion</h3><div>Interaction experiences with individuals with SMID were not associated with subjective happiness; however, they were associated with resilience. Our findings suggest the necessity for nurses to establish sustainable relationships with individuals with SMID.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104461"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145271504","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":"A pediatric case of anti-PF4 antibody-induced cerebral venous sinus thrombosis and thrombocytopenia following adenovirus infection: a literature review","authors":"Kohei Nagai ,&nbsp;Tadahiro Mitani ,&nbsp;Yuta Kawahara ,&nbsp;Hirofumi Oguma ,&nbsp;Akira Gomi ,&nbsp;Atsushi Yasumoto ,&nbsp;Toshihiro Tajima ,&nbsp;Kazuhiro Muramatsu ,&nbsp;Hitoshi Osaka","doi":"10.1016/j.braindev.2025.104483","DOIUrl":"10.1016/j.braindev.2025.104483","url":null,"abstract":"<div><h3>Introduction</h3><div>Vaccine-induced immune thrombocytopenia and thrombosis (VITT) is a rare disorder caused by antibodies against platelet factor 4 (PF4) triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccines using non-replicable adenoviral vectors. It emerged during the pandemic, with patients typically presenting with thrombosis at uncommon sites, thrombocytopenia, and elevated D-dimer levels. VITT antibodies and heparin-dependent antibodies bind to distinct PF4 epitopes. Recently, VITT-like clinical, laboratory, and anti-PF4 antibody features have also been observed in patients with adenoviral infections. Only four pediatric cases of cerebral venous sinus thrombosis (CVST) have been reported.</div></div><div><h3>Case report</h3><div>The patient was a previously healthy 2-year-old girl with no history of heparin exposure or SARS-CoV-2 vaccination. She presented with fever and was diagnosed with adenovirus infection. The fever resolved by day 4, but by day 6 she became increasingly lethargic and experienced vomiting. On day 12, Laboratory data showed severe thrombocytopenia and elevated D-dimer levels. Computed tomography revealed CVST along with a secondary hemorrhage in the right temporal lobe. She underwent hematoma removal with external/internal decompression and was started on continuous intravenous unfractionated heparin, and she was switched to warfarin. The thrombus decreased, platelet count spontaneously increased. Platelet activation assays using acute-phase serum identified a PF4-dependent platelet-activating antibody.</div></div><div><h3>Conclusion</h3><div>We report a case of CVST in a 2-year-old girl following adenovirus infection. Unlike heparin-induced thrombocytopenia, where heparin exacerbates the condition, it is effective here by competitively inhibiting anti-PF4 antibody binding. In patients with prior adenovirus infection presenting with CVST and thrombocytopenia, anti-PF4 disorders should be considered.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104483"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490967","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":"Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics","authors":"Yavuz Ataş ,&nbsp;Cenk Eraslan ,&nbsp;Tuğce Ince ,&nbsp;Javid Islamli ,&nbsp;Pınar Öcbe ,&nbsp;Dilara Ece Toprak ,&nbsp;Gürsel Şen ,&nbsp;Cemile Büşra Ölçülü ,&nbsp;Özlem Yilmaz ,&nbsp;Özlem Acar ,&nbsp;Güliz Çırpanlı Ari ,&nbsp;Gamze Görgülü ,&nbsp;Pınar Yazıcı Özkaya ,&nbsp;Bülent Karapinar ,&nbsp;Coşkun Ekemen ,&nbsp;Zümrüt Şahbudak Bal ,&nbsp;Erdem Şimşek ,&nbsp;Seda Kanmaz ,&nbsp;Sanem Yilmaz ,&nbsp;Cem Çalli ,&nbsp;Hasan Tekgül","doi":"10.1016/j.braindev.2025.104472","DOIUrl":"10.1016/j.braindev.2025.104472","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the clinical and radiological characteristics of cytotoxic lesions of the corpus callosum (CLOCC) in a pediatric cohort.</div></div><div><h3>Methods</h3><div>A pediatric CLOCC cohort consisting of 16 patients was derived from the radiology database of a single tertiary institution, Ege Children's Hospital. The CLOCC diagnosis was based on previously established magnetic resonance imaging (MRI) criteria by Starkey et al.: (i) a small, round lesion centered in the splenium; (ii) a lesion centered in the splenium extending laterally through adjacent callosal fibers; or (iii) a lesion located posteriorly in the splenium extending anteriorly. The MRI characteristics of the study cohort were re-evaluated with those of other neurologic disorder groups with corpus callosum involvement: vascular lesions (<em>n</em> = 200); demyelinating disorders (<em>n</em> = 114); autoimmune encephalitis (<em>n</em> = 23); traumatic brain injury (<em>n</em> = 151). Etiology-specific diagnostic approaches, therapeutic challenges, and clinical outcomes were also analyzed.</div></div><div><h3>Results</h3><div>All patients displayed characteristic MRI features of CLOCC, including high signal on T2-weighted images, isointense-to-hypointense signal on T1-weighted images, and restricted diffusion on diffusion-weighted imaging (DWI), without contrast enhancement. The CLOCC lesions resolved within a median follow-up of 20 days (range: 5–150 days). The cohort was classified as infection-related CLOCC (62.5 %) and non-infectious CLOCC (37.5 %). The most frequent neurological symptoms at presentation were seizures (50 %) and altered consciousness (43.8 %). Immunotherapy was administered to 37.5 % of patients. None developed CLOCC-related neurological sequelae during the follow-up period.</div></div><div><h3>Conclusion</h3><div>Pediatric CLOCC is predominantly associated with symptoms related to underlying etiologic diseases, presenting diagnostic and therapeutic challenges in certain neurological conditions. The CLOCC lesions exhibit highly homogeneous MRI findings, though clinical outcomes and lesion resolution times vary depending on specific etiologies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104472"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145379951","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 “Understanding cancer risk in severe motor and intellectual disabilities: The role of external influences”","authors":"Hiroshi Terashima ,&nbsp;Yoshiaki Saito","doi":"10.1016/j.braindev.2025.104470","DOIUrl":"10.1016/j.braindev.2025.104470","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104470"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314311","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 regarding the article “the impact of intraventricular hemorrhage on brainstem auditory function in preterm babies”","authors":"Ze Dong Jiang","doi":"10.1016/j.braindev.2025.104480","DOIUrl":"10.1016/j.braindev.2025.104480","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104480"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145417923","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":"A patient presenting with chapeau de gendarme and three phase-ictal EEG pattern: Suggesting a focus in the interhemispheric fissure","authors":"Kensuke Kumazaki ,&nbsp;Tohru Okanishi ,&nbsp;Kento Ohta ,&nbsp;Michiru Sasaki ,&nbsp;Sotaro Kanai ,&nbsp;Yoshihiro Maegaki","doi":"10.1016/j.braindev.2025.104467","DOIUrl":"10.1016/j.braindev.2025.104467","url":null,"abstract":"<div><h3>Introduction</h3><div>We report a pediatric case of frontal lobe epilepsy with seizures characterized by the “chapeau de gendarme (CdG)” sign and a three phase-ictal scalp EEG (3Ph-EEG) pattern, suggesting a seizure focus in the interhemispheric fissure (IHF) cortex.</div></div><div><h3>Case report</h3><div>An 8-year-old boy with autism spectrum disorder (ASD) presented with daily episodes of impaired consciousness, staring, and bilateral tonic posturing of the upper limbs, accompanied by stiffening and drooping of both corners of the mouth. These episodes were initially misdiagnosed as behavioral disturbances in patients with ASD. Video-scalp EEG at age 11 revealed a 3Ph-EEG pattern: 1) brief β bursts in the left frontal region; 2) diffuse attenuation; and 3) rhythmic activity evolving from β to δ frequencies over the left fronto-centro-parietal regions. Seizure semiology and EEG findings were consistent with a seizure focus in the anterior IHF cortex, including the cingulate gyrus. Although valproate and levetiracetam were ineffective, lacosamide (LCM) effectively controlled the seizures, and its efficacy was sustained over a 3-year follow-up period.</div></div><div><h3>Discussion</h3><div>The combination of CdG and 3Ph-EEG patterns may serve as clinical and electrophysiological markers for seizures originating in the frontal IHF cortex. Therefore, LCM may be an effective treatment option for such cases. This case underscores the importance of detailed seizure semiology and EEG interpretation for accurate localization.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104467"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304538","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: “Acute encephalopathy with biphasic seizures: Is cerebrospinal fluid glutamate truly specific?”","authors":"Yasunari Sakai,&nbsp;Kenta Kajiwara","doi":"10.1016/j.braindev.2025.104471","DOIUrl":"10.1016/j.braindev.2025.104471","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 6","pages":"Article 104471"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314396","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":"2025-10-01","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":"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":"2025-10-01","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":"Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood","authors":"Kenta Kajiwara ,&nbsp;Daiki Setoyama ,&nbsp;Kanako Higashi ,&nbsp;Tomoko Nomiyama ,&nbsp;Yuko Ichimiya ,&nbsp;Daichi Kumamoto ,&nbsp;Satoshi Akamine ,&nbsp;Yuri Sonoda ,&nbsp;Pin Fee Chong ,&nbsp;Ryuichi Takemoto ,&nbsp;Wakato Matsuoka ,&nbsp;Soichi Mizuguchi ,&nbsp;Noriyuki Kaku ,&nbsp;Takahiro A. Kato ,&nbsp;Tomohiko Akahoshi ,&nbsp;Yuya Kunisaki ,&nbsp;Yasunari Sakai ,&nbsp;Shouichi Ohga","doi":"10.1016/j.braindev.2025.104448","DOIUrl":"10.1016/j.braindev.2025.104448","url":null,"abstract":"<div><h3>Backgrounds</h3><div>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most frequent form of acute encephalopathy in early childhood in Japan. Magnetic resonance imaging provides useful hallmarks of diagnosing AESD. However, metabolomic profiles for AESD remain elusive. This study investigates whether measurement of amino acids in the cerebrospinal fluid (CSF) is useful for the diagnosis of AESD before onset.</div></div><div><h3>Methods</h3><div>In the first study, CSF samples were collected from patients (11 AESD and 17 controls) admitted to Kyushu University Hospital during 2011–2016. Amino acids in the CSF were analyzed using mass spectrometry. Cytometric bead arrays were used to measure cytokine and chemokine levels in the CSF. The second study was performed by recruiting patients (8 AESD patients and 10 controls) admitted during 2011–2024. CSF samples were stored at −20 °C for 1 month to 12 years.</div></div><div><h3>Results</h3><div>In the first study, glutamate levels in the CSF from AESD patients were higher than in controls and correlated with methionine, threonine, and tyrosine levels. A correlation map of cytokines and amino acids revealed that glutamate formed a cluster with IL-1β, IL-10, and IL-12 p70. In the second study, no difference in glutamate levels was observed between AESD and control groups.</div></div><div><h3>Conclusions</h3><div>CSF glutamate potentially serves as a useful marker for diagnosing AESD. The long-term storage of CSF samples was likely to cause a decay of glutamate in the CSF. Prospective studies using fresh CSF samples are necessary to validate the results in this study.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104448"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152058","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}