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Clinical, immunological and metabolic features and gut-brain axis markers in children with autism spectrum disorder and TORCH-associated central nervous system involvement. 自闭症谱系障碍儿童的临床、免疫和代谢特征以及肠-脑轴标志物和torch相关中枢神经系统受累
IF 1.7 4区 医学
Brain & Development Pub Date : 2026-10-23 DOI: 10.1016/j.braindev.2026.104611
Nodirakhon Khusenova, Yakuthon Madjidova, Furkat Mizamov, Mukaddas Abidova, Gulkhumor Karimova, Irfan, Taj Mohammad, Arevik Abramyan
{"title":"Clinical, immunological and metabolic features and gut-brain axis markers in children with autism spectrum disorder and TORCH-associated central nervous system involvement.","authors":"Nodirakhon Khusenova, Yakuthon Madjidova, Furkat Mizamov, Mukaddas Abidova, Gulkhumor Karimova, Irfan, Taj Mohammad, Arevik Abramyan","doi":"10.1016/j.braindev.2026.104611","DOIUrl":"https://doi.org/10.1016/j.braindev.2026.104611","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorders (ASD) have heterogeneous etiologies, with TORCH infections potentially contributing to neurodevelopmental disruption through central nervous system injury and gut-brain axis dysfunction.</p><p><strong>Methods: </strong>A prospective comparative study enrolled 280 children aged 3-10 years with ASD: 112 with TORCH-associated central nervous system (CNS) involvement (main group) and 168 with idiopathic ASD (comparison group), alongside 25 healthy controls. Assessments included clinical/neurological features, autism severity, gastrointestinal symptoms, pro-inflammatory cytokines, metabolic markers, neuron-specific enolase (NSE), fecal zonulin, and brain MRI. TORCH pathogens were detected by PCR from saliva samples.</p><p><strong>Results: </strong>TORCH-associated ASD exhibited a more severe phenotype with greater frequencies of delayed speech, cognitive impairment, sleep disturbance, hyperactivity, emotional-behavioral dysregulation, epileptiform manifestations, and gastrointestinal symptoms. Severe ASD was significantly more common in the TORCH group. Laboratory analyses revealed significantly elevated interleukin-1β, interleukin-8, tumor necrosis factor alpha, homocysteine, ammonia, uric acid, NSE, and fecal zonulin, with reduced folate. Fecal zonulin was positively correlated with inflammatory markers and neuron-specific enolase. MRI more frequently demonstrated periventricular gliosis, ventriculomegaly, subependymal abnormalities, and diffuse residual organic changes.</p><p><strong>Conclusions: </strong>In this cohort, ASD with clinical evidence of TORCH-associated CNS involvement was associated with greater clinical severity and higher serum inflammatory, metabolic, neuronal-injury, fecal-zonulin, and structural MRI measures than ASD without such evidence. The cross-sectional design and limitations of salivary PCR preclude causal attribution to TORCH infection.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 6","pages":"104611"},"PeriodicalIF":1.7,"publicationDate":"2026-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149247649","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}
引用次数: 0
Treatment-associated factors potentially linked to relapse in pediatric MOG antibody-associated disease: An exploratory case series. 治疗相关因素可能与儿童MOG抗体相关疾病的复发相关:一个探索性病例系列
IF 1.7 4区 医学
Brain & Development Pub Date : 2026-10-22 DOI: 10.1016/j.braindev.2026.104605
Shimpei Matsuda, Shino Shimada, Takato Akiba, Noboru Yoshida, Eri Sakamoto, Ayuko Igarashi, Mitsuru Ikeno, Shimpei Abe, Yasunobu Hoshino, Yuji Tomizawa, Hiroshi Sakuma, Hiromichi Shoji
{"title":"Treatment-associated factors potentially linked to relapse in pediatric MOG antibody-associated disease: An exploratory case series.","authors":"Shimpei Matsuda, Shino Shimada, Takato Akiba, Noboru Yoshida, Eri Sakamoto, Ayuko Igarashi, Mitsuru Ikeno, Shimpei Abe, Yasunobu Hoshino, Yuji Tomizawa, Hiroshi Sakuma, Hiromichi Shoji","doi":"10.1016/j.braindev.2026.104605","DOIUrl":"https://doi.org/10.1016/j.braindev.2026.104605","url":null,"abstract":"<p><strong>Background: </strong>Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is an inflammatory demyelination disorder primarily affecting children. Pediatric-onset MOGAD typically responds well to corticosteroids; however, predictors of relapse and optimal strategies for sustained remission remain unclear.</p><p><strong>Objective: </strong>To explore treatment-associated factors that may be related to relapse in pediatric MOGAD, we focused on remission timing, second-line therapy, and prednisolone (PSL) tapering.</p><p><strong>Methods: </strong>We retrospectively analyzed 11 pediatric MOGAD cases diagnosed between 2015 and 2023. The clinical presentation, treatment course, and relapse patterns, including remission timing, second-line therapy, and PSL tapering, were reviewed.</p><p><strong>Results: </strong>Among the 11 pediatric patients (median age at onset: 9 years; median follow-up: 70 months), five (45.5%) experienced relapse. Delayed remission and absence of early transition to second-line therapy were observed in relapsing cases. A shorter duration of low-dose PSL tapering (median 16.5 vs 86 days) was also more frequently observed in relapsing cases. In one patient, serum MOG antibody titers rose prior to clinical relapse. These observations are hypothesis-generating and should be interpreted with caution given the small sample size.</p><p><strong>Conclusion: </strong>These hypothesis-generating observations suggest that optimizing acute-phase treatment may be important in reducing the relapse risk in pediatric MOGAD. Escalation to second-line therapy may warrant consideration when improvement is inadequate within the first days of acute treatment (no response by day 3 or insufficient improvement by day 5). Early escalation and a more gradual PSL taper were more often observed among patients who remained relapse-free. However, prospective studies with larger cohorts are required to confirm these findings.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 6","pages":"104605"},"PeriodicalIF":1.7,"publicationDate":"2026-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149247622","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}
引用次数: 0
Vigabatrin therapy for infantile epileptic spasms syndrome with periventricular leukomalacia 维加巴林治疗小儿癫痫痉挛综合征伴脑室周围白质软化症。
IF 1.7 4区 医学
Brain & Development Pub Date : 2026-08-01 Epub Date: 2026-07-20 DOI: 10.1016/j.braindev.2026.104574
Azusa Oba, Ryuki Matsuura, Haruhito Horita, Atsuro Daida, Yuko Hirata, Reiko Koichihara, Shin-ichiro Hamano, Tomoka Kanbe, Kenjiro Kikuchi
{"title":"Vigabatrin therapy for infantile epileptic spasms syndrome with periventricular leukomalacia","authors":"Azusa Oba,&nbsp;Ryuki Matsuura,&nbsp;Haruhito Horita,&nbsp;Atsuro Daida,&nbsp;Yuko Hirata,&nbsp;Reiko Koichihara,&nbsp;Shin-ichiro Hamano,&nbsp;Tomoka Kanbe,&nbsp;Kenjiro Kikuchi","doi":"10.1016/j.braindev.2026.104574","DOIUrl":"10.1016/j.braindev.2026.104574","url":null,"abstract":"<div><h3>Background</h3><div>Infantile epileptic spasm syndrome (IESS) and periventricular leukomalacia (PVL) cause developmental regression and poor neurological outcomes. The primary treatments for IESS include adrenocorticotropin and vigabatrin; however, no study has yet evaluated the efficacy of vigabatrin for patients with both IESS and PVL. Therefore, we investigated the efficacy and safety of vigabatrin in patients with both disorders.</div></div><div><h3>Methods</h3><div>We retrospectively enrolled patients with IESS and PVL who were treated with vigabatrin. We performed ophthalmological examinations and electroretinography (ERG) before and after vigabatrin. Treatment response was defined as complete cessation of epileptic spasms and no other seizures after 3 months of vigabatrin. We investigated the responses to vigabatrin, doses used, and adverse effects.</div></div><div><h3>Results</h3><div>Seven patients (5 males) with IESS and PVL were treated with vigabatrin. The median age at vigabatrin initiation was 10 (range, 7–25) months. Three of the seven patients (42.8%) showed complete clinical cessation of epileptic spasms after 3 months of vigabatrin. The median duration between vigabatrin initiation and epileptic spasm cessation was 5 (range: 3–61) days. The adverse effects included poor feeding (<em>n</em> = 1) and abnormal ERG findings during vigabatrin therapy (<em>n</em> = 2). These ERG findings normalized after vigabatrin was reduced or stopped. No respiratory failure, increased secretion, or somnolence was observed.</div></div><div><h3>Conclusion</h3><div>Vigabatrin was effective for treating 42.8% of our patients with both IESS and PVL. Vigabatrin was well tolerated, with only a mild effect observed in patients with IESS and PVL. Some treatment-related ERG abnormalities were normalized after vigabatrin was reduced or stopped.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 4","pages":"Article 104574"},"PeriodicalIF":1.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148537419","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}
引用次数: 0
Natural history of a cohort of children with type 2 spinal muscular atrophy from southern India – A retrospective single-centre study 印度南部一组2型脊髓性肌萎缩症儿童的自然病史——一项回顾性单中心研究。
IF 1.7 4区 医学
Brain & Development Pub Date : 2026-08-01 Epub Date: 2026-07-20 DOI: 10.1016/j.braindev.2026.104575
Mary Iype, Ayyappan Anitha, V.H. Sankar, George Zachariah, Ashok Ramakrishnan, A. Fathahudeen, S. Bindu, U.R. Rahul, M. Sreehari, K.V. Viswanathan, Thomas Mathew, C.G. Aswathy, Mini Sreedharan, Shahanaz Ahamed
{"title":"Natural history of a cohort of children with type 2 spinal muscular atrophy from southern India – A retrospective single-centre study","authors":"Mary Iype,&nbsp;Ayyappan Anitha,&nbsp;V.H. Sankar,&nbsp;George Zachariah,&nbsp;Ashok Ramakrishnan,&nbsp;A. Fathahudeen,&nbsp;S. Bindu,&nbsp;U.R. Rahul,&nbsp;M. Sreehari,&nbsp;K.V. Viswanathan,&nbsp;Thomas Mathew,&nbsp;C.G. Aswathy,&nbsp;Mini Sreedharan,&nbsp;Shahanaz Ahamed","doi":"10.1016/j.braindev.2026.104575","DOIUrl":"10.1016/j.braindev.2026.104575","url":null,"abstract":"<div><h3>Background</h3><div>An understanding of the natural history and progression of spinal muscular atrophy (SMA) in untreated children, is crucial for the identification of responsive outcome measures that are used to demonstrate the effectiveness of disease-modifying therapies (DMTs). However, there have been no such studies from India.</div></div><div><h3>Objectives</h3><div>This retrospective registry-based study was aimed at outlining the progression of type 2 SMA among children, with a median age of ten years, over a span of two years.</div></div><div><h3>Methodology</h3><div>Data from 30 drug-naïve children diagnosed with type 2 SMA were included in the study. A semi-structured pre-tested proforma was used to collect the baseline characteristics of the participants. The outcome variables were the neuromotor function scores based on Hammersmith Functional Motor Scale-Expanded (HFMSE), Revised Upper Limb Module (RULM), and the motor milestones established by the World Health Organization (WHO) modified to include attainment of head control.</div></div><div><h3>Results</h3><div>At the one-year follow-up, clinically relevant decrements in HFMSE and RULM scores were noted in 52% and 26% of the patients, respectively. After two years, these figures rose to 67% and 37%, respectively, suggesting an earlier loss of function of the lower extremities in these children compared to the upper extremities. Motor milestone loss was not observed in any of the children. Swallowing difficulty was significantly associated with a decrease in the HFMSE score. At the end of the two-year follow-up period, the cumulative survival was found to be 0.88, and the mean survival time was estimated to be 29 months.</div></div><div><h3>Conclusion</h3><div>Our results align with earlier studies indicating that disease progression in type 2 SMA varies among children, highlighting its heterogeneous nature.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 4","pages":"Article 104575"},"PeriodicalIF":1.7,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148537474","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}
引用次数: 0
JSCN Best Paper Awards JSCN最佳论文奖
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-06-01 Epub Date: 2026-05-28 DOI: 10.1016/j.braindev.2026.104546
{"title":"JSCN Best Paper Awards","authors":"","doi":"10.1016/j.braindev.2026.104546","DOIUrl":"10.1016/j.braindev.2026.104546","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 3","pages":"Article 104546"},"PeriodicalIF":1.3,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148185064","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}
引用次数: 0
Child neurology: Early neuroprotective and immunomodulatory intervention in acute shock with encephalopathy and multiorgan failure: Cytokine-storm encephalopathy—case report 儿童神经病学:早期神经保护和免疫调节干预急性休克脑病和多器官功能衰竭:细胞因子风暴脑病病例报告。
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-04-01 Epub Date: 2026-02-11 DOI: 10.1016/j.braindev.2026.104508
Nobuaki Tsuiki , Tsuyoshi Aihara , Itaru Hayakawa , Taro Moriwaki , Keiichi Tomita , Tatsuya Takahashi , Saeko Irie , Shotaro Matsumoto , Satoko Uematsu , Yuichi Abe
{"title":"Child neurology: Early neuroprotective and immunomodulatory intervention in acute shock with encephalopathy and multiorgan failure: Cytokine-storm encephalopathy—case report","authors":"Nobuaki Tsuiki ,&nbsp;Tsuyoshi Aihara ,&nbsp;Itaru Hayakawa ,&nbsp;Taro Moriwaki ,&nbsp;Keiichi Tomita ,&nbsp;Tatsuya Takahashi ,&nbsp;Saeko Irie ,&nbsp;Shotaro Matsumoto ,&nbsp;Satoko Uematsu ,&nbsp;Yuichi Abe","doi":"10.1016/j.braindev.2026.104508","DOIUrl":"10.1016/j.braindev.2026.104508","url":null,"abstract":"<div><h3>Background</h3><div>Acute shock with encephalopathy and multiorgan failure (ASEM)—within the infection-triggered encephalopathy syndromes (ITES)—is a fulminant para-infectious encephalopathy that can progress to diffuse cerebral edema within hours. Guidance on time-critical immunomodulation remains limited.</div></div><div><h3>Case</h3><div>An 8-year-old girl developed abrupt altered mental status on day 2 of an influenza A respiratory illness. Glasgow Coma Scale score was E4V1M5 with hyperpyrexia, hypoxemia, and circulatory instability, prompting intubation. Head CT at 120 min showed early diffuse cerebral edema. At 180 min (transport-team arrival), systolic blood pressure was 60 mmHg; a neuroprotective bundle with vasoactive agents achieved partial stabilization. Methylprednisolone pulse therapy began at 200 min; therapeutic plasma exchange (TPE) at 430 min. Continuous EEG showed diffuse slowing in the 0.5–2 Hz band without suppression or electrographic seizures. Steroid pulses plus TPE were continued for five days, with adjunct intravenous immunoglobulin on days 5–6. Vasopressors were weaned by day 3; renal replacement therapy ended by day 5. Brain MRI on day 7 showed no new abnormalities. She was extubated on day 7; blood cultures remained negative. Neurologic status steadily improved. At 3.5 months, full-scale IQ was 111; at 6 months, only mild truncal ataxia persisted without functional limitation.</div></div><div><h3>Conclusions</h3><div>This ASEM case illustrates parallel diagnosis and treatment within a narrow window. Simple triggers—shock with multiorgan failure/disseminated intravascular coagulation and early imaging red flags—can support rapid transfer and early immunomodulation (e.g., steroid pulses and TPE) alongside neuroprotective care, potentially averting irreversible brain injury.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104508"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146183616","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}
引用次数: 0
A scoping review of functional near-infrared spectroscopy studies of reading development in children aged 6–12 6-12岁儿童阅读发展的功能近红外光谱研究综述。
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-04-01 Epub Date: 2026-02-01 DOI: 10.1016/j.braindev.2026.104507
Devon A. Bode, Saisha S. Rankaduwa, Laura M. Elliott, Aaron J. Newman
{"title":"A scoping review of functional near-infrared spectroscopy studies of reading development in children aged 6–12","authors":"Devon A. Bode,&nbsp;Saisha S. Rankaduwa,&nbsp;Laura M. Elliott,&nbsp;Aaron J. Newman","doi":"10.1016/j.braindev.2026.104507","DOIUrl":"10.1016/j.braindev.2026.104507","url":null,"abstract":"<div><h3>Significance</h3><div>Functional near-infrared spectroscopy (fNIRS) offers several advantages for neuroimaging in children, yet its use in research on cognitive development, particularly reading, remains limited.</div></div><div><h3>Aim</h3><div>This scoping review focuses on fNIRS studies examining reading development in school-aged children (6–12 years), with four goals: (1) characterize methodological parameters, including stimuli and tasks; (2) identify brain regions showing fNIRS signal changes during reading and across development; (3) document technical fNIRS methods; (4) assess adherence to best practice in fNIRS reporting.</div></div><div><h3>Approach</h3><div>We searched PubMed, Embase, PsycINFO, Scopus, gray literature, and reference lists.</div></div><div><h3>Results</h3><div>Reading-related fNIRS activation was most frequently observed in the inferior frontal gyrus, superior temporal gyrus, and middle frontal gyrus. However, only seven studies directly examined developmental changes in reading using fNIRS. A consistent issue across studies was underreporting of technical methods and incomplete adherence to recommended best practices for fNIRS data collection and analysis.</div></div><div><h3>Conclusions</h3><div>To advance the field, future fNIRS research on reading development should (1) follow established reporting guidelines, (2) ensure adequate brain region coverage when designing probe arrays, and (3) prioritize longitudinal and developmental investigations to better capture changes in brain function during reading development.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104507"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146108761","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}
引用次数: 0
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan 夏-吉布斯综合征患者的临床和分子特征:日本的一个队列。
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-04-01 Epub Date: 2026-02-06 DOI: 10.1016/j.braindev.2026.104509
Hironao Shirai , Yoshiki Oitani , Eriko Nishi , Kohei Haraguchi , Takuji Nakamura , Fumio Ichinose , Masafumi Sanefuji , Ayako Hattori , Kumiko Yanagi , Keiko Shimojima Yamamoto , Nobuhiko Okamoto , Muneaki Matsuo , Shinji Saitoh , Koh-Ichiro Yoshiura , Tadashi Kaname , Toshiyuki Yamamoto
{"title":"Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan","authors":"Hironao Shirai ,&nbsp;Yoshiki Oitani ,&nbsp;Eriko Nishi ,&nbsp;Kohei Haraguchi ,&nbsp;Takuji Nakamura ,&nbsp;Fumio Ichinose ,&nbsp;Masafumi Sanefuji ,&nbsp;Ayako Hattori ,&nbsp;Kumiko Yanagi ,&nbsp;Keiko Shimojima Yamamoto ,&nbsp;Nobuhiko Okamoto ,&nbsp;Muneaki Matsuo ,&nbsp;Shinji Saitoh ,&nbsp;Koh-Ichiro Yoshiura ,&nbsp;Tadashi Kaname ,&nbsp;Toshiyuki Yamamoto","doi":"10.1016/j.braindev.2026.104509","DOIUrl":"10.1016/j.braindev.2026.104509","url":null,"abstract":"<div><h3>Background</h3><div>Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif containing 1 (<em>AHDC1</em>) gene. More than 100 patients with XGS have been reported. In this study, we describe the findings from a Japanese cohort of patients with XGS. To enhance understanding, we also conducted a systematic literature review of XGS.</div></div><div><h3>Methods</h3><div>We collected clinical and genetic information from seven new Japanese patients with XGS which were diagnosed through comprehensive genetic analysis. A systematic literature review was also conducted using PubMed.</div></div><div><h3>Results</h3><div>All Japanese patients carried premature truncation variants or deletions. The core clinical features were global developmental delay and hypotonia, which were consistent with those observed in the 106 previously reported patients identified in our literature review. In one patient with a frameshift variant, escape from nonsense-mediated mRNA decay was confirmed using the patient's sample.</div></div><div><h3>Conclusion</h3><div>The clinical and molecular profiles of Japanese patients with XGS were analyzed and compared with those of previously reported patients from other countries, confirming the consistent characteristics of XGS. This study provides direct evidence of nonsense-mediated mRNA decay escape. A comprehensive understanding of this expanding phenotype is crucial for accurate diagnosis and management.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104509"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146137964","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}
引用次数: 0
Association between left precuneus functional connectivity and early neurodevelopment in preterm infants 早产儿左楔前叶功能连通性与早期神经发育的关系。
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-04-01 Epub Date: 2026-02-10 DOI: 10.1016/j.braindev.2026.104513
Ye Feng , Xu Li , Shaohua Bi , Le Wang , Ya Wang , Chao Zhang , Liying Dai , Jian Zhang
{"title":"Association between left precuneus functional connectivity and early neurodevelopment in preterm infants","authors":"Ye Feng ,&nbsp;Xu Li ,&nbsp;Shaohua Bi ,&nbsp;Le Wang ,&nbsp;Ya Wang ,&nbsp;Chao Zhang ,&nbsp;Liying Dai ,&nbsp;Jian Zhang","doi":"10.1016/j.braindev.2026.104513","DOIUrl":"10.1016/j.braindev.2026.104513","url":null,"abstract":"<div><h3>Objective</h3><div>Preterm birth is associated with an increased risk of functional brain network alterations, which may contribute to long-term motor and neurocognitive deficits. However, the underlying neural mechanisms remain incompletely understood. This study aimed to investigate functional brain activity changes in preterm infants and their correlation with early neurobehavioral development.</div></div><div><h3>Methods</h3><div>Fifteen preterm infants and 15 full-term infants underwent scanning using a 3.0T Philips MRI scanner. Three resting-state functional magnetic resonance imaging (rs-fMRI) data-driven approaches, amplitude of low-frequency fluctuations (ALFF), regional homogeneity (ReHo), and seed-based functional connectivity (FC) were used to comprehensively evaluate functional brain alterations in preterm infants at term-equivalent age (TEA). Correlations between Neonatal Behavioral Neurological Assessment (NBNA) scores and FC values of abnormally connected brain regions were further analyzed in preterm infants at TEA.</div></div><div><h3>Results</h3><div>Compared with full-term infants, preterm infants exhibited significantly higher ALFF and ReHo values in the left precuneus. Using the left precuneus as a seed region for FC analysis, preterm infants showed reduced FC with the left Rolandic operculum, right putamen, and left hippocampus. Additionally, FC values between the left precuneus and left Rolandic operculum, as well as between the left precuneus and right putamen, were positively correlated with NBNA scores in preterm infants.</div></div><div><h3>Conclusions</h3><div>Preterm infants may present early functional connectivity impairments of the left precuneus, which may be a potential neural correlate of neurobehavioral abnormalities. These findings provide insights into the neurodevelopmental mechanisms underlying preterm birth-related deficits and may inform early clinical assessment strategies.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"48 2","pages":"Article 104513"},"PeriodicalIF":1.3,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146168117","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}
引用次数: 0
Toward etiology-specific and radiomics-based approaches in cytotoxic lesions of the corpus callosum 胼胝体细胞毒性病变病因特异性和放射组学研究进展
IF 1.3 4区 医学
Brain & Development Pub Date : 2026-04-01 Epub Date: 2026-01-31 DOI: 10.1016/j.braindev.2026.104506
Hasan Tekgül , Yavuz Ataş , Seda Kanmaz , Cenk Eraslan
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