World Journal of Pediatrics最新文献

{"title":"Transition from childhood to adulthood care in celiac disease: an essential step.","authors":"Luís Sousa Barros, Sara Oliveira, Miguel Costa","doi":"10.1007/s12519-026-01018-5","DOIUrl":"10.1007/s12519-026-01018-5","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"277-280"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146126514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.","authors":"Ya-Yue Chen, Wei-Jun Chen, Rui Zhang, Chai Ji, Yu-Han Zhang, Da-Qing Ma, Qiao-Juan Shi, Yi-Cheng Xie","doi":"10.1007/s12519-026-01020-x","DOIUrl":"10.1007/s12519-026-01020-x","url":null,"abstract":"<p><strong>Background: </strong>Williams syndrome (WS; OMIM #194,050) is a multisystem pediatric genetic disorder caused by a heterozygous microdeletion of a 1.5-1.8 Mb region at chromosome 7q11.23, encompassing 26 to 28 genes. Clinical hallmarks include cardiovascular anomalies, distinctive craniofacial morphology and neurodevelopmental deficits characterized by hypersociability, cognitive impairment and anxiety. Although causative therapies for WS still remain elusive, advances in gene editing and forebrain organoids have already greatly furthered our understanding of the underlying mechanisms.</p><p><strong>Data sources: </strong>This narrative review was conducted by searching for papers using PubMed/MEDLINE. Relevant publications were identified using single and/or combined keywords including: Williams syndrome, 7q11.23, microdeletion, microduplication, atypical deletion, neurodevelopment, neuroanatomy, neuroimaging. cognitive impairment, mouse models, GTF2I, GTF2IRD1, CLIP2, LIMK1, NCF1, EIF4H, STX1A/B, FZD9, HIP1, CLDN3, FKBP6, organoid, induced pluripotent stem cell (iPSC) and forebrain organoids.</p><p><strong>Results: </strong>Mouse models including multigene deletion strains recapitulating the WS critical region and single-gene knockout strains targeting Gtf2i, Gtf2ird1, Clip2 and Limk1 replicate key WS neurodevelopmental phenotypes, substantially contributing to mechanistic studies and therapeutic screening. In addition, forebrain organoids derived from patients or generated by gene editing have provided human-specific insights into progenitor dynamics, synaptic function, and ribosome biogenesis.</p><p><strong>Conclusions: </strong>This review synthesizes recent progress in WS modeling in the context of neurodevelopmental impairments. While animal models and forebrain organoids have substantially accelerated both mechanistic understanding and translational research in WS, effective diagnostic and therapeutic approaches are still unavailable. Integration of animal models and forebrain organoids, together with the advanced technologies, will be essential for biomarker discovery and development of mechanism-based therapeutic approaches.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"284-302"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13076566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147475824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrative metabolomics and machine learning identify biomarkers of adolescent social anxiety disorder.","authors":"Jun-Yu Lai, Bei-Bei Yang, Pei-Jun Ju, Ying Sun, Xiu-Jia Sun, Wen-Hong Cheng, Jing-Hong Chen","doi":"10.1007/s12519-025-00984-6","DOIUrl":"10.1007/s12519-025-00984-6","url":null,"abstract":"<p><strong>Background: </strong>Social anxiety disorder (SAD) is one of the most prevalent anxiety disorders in adolescents but remains underdiagnosed due to the lack of objective diagnostic tools. This study aimed to identify serum metabolomic alterations in adolescent SAD patients and to develop an interpretable diagnostic model.</p><p><strong>Methods: </strong>In this cross-sectional study, serum samples were collected from 78 adolescents, including 42 drug-naive, first-episode SAD patients and 36 matched healthy controls. Untargeted metabolomic profiling was performed, and feature selection was conducted via least absolute shrinkage and selection operator regression, followed by logistic regression for model construction.</p><p><strong>Results: </strong>Among the 661 detected metabolites, 46 differed significantly between groups, mainly within amino acid and energy metabolism pathways. Five key metabolites, 2-hydroxybutanoic acid, L-alanine, L-asparagine, glutamine and beta-tocopherol, were selected for model construction. The diagnostic model achieved an area under the curve of 0.934 in the training set, but external validation is still lacking, and the findings should be interpreted as hypothesis-generating.</p><p><strong>Conclusions: </strong>Adolescents with SAD exhibit distinct metabolic profiles, and a preliminary diagnostic model was developed. Exploratory microbiota-related observations suggested potential links between gut microbial activity, host metabolism, and anxiety phenotypes, but these findings remain preliminary and outside the scope of the present study. Overall, these findings provide hypothesis-generating support for further investigation of gut-metabolism-brain interactions and highlight the need for larger, externally validated studies to advance biomarker development.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"349-361"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145347817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From treatment to health: reforming the child health care system in China in an era of low fertility.","authors":"Jian Wang, Dan Shan, Guo-Dong Ding, Yong-Jun Zhang, Kun Sun","doi":"10.1007/s12519-026-01029-2","DOIUrl":"10.1007/s12519-026-01029-2","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"281-283"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147475802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of pediatric cannabidiol prescribing in the United States.","authors":"Yifan Li, Chloe Lessard, Fábio A Nascimento, Jacob T Borodovsky, Dawn Gano, Robert Trestman, Anita Kablinger, Pallawi Jyotsana, Jacob Steinle, Ruth Ling, Lisa Gong, Kevin Y Xu, Binx Yezhe Lin","doi":"10.1007/s12519-026-01028-3","DOIUrl":"10.1007/s12519-026-01028-3","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"372-376"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035319/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147522301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of transcranial Doppler to determine brain death or death by neurologic criteria in children: a narrative review.","authors":"Na Tan, Jie Wu, Su-Yun Qian","doi":"10.1007/s12519-025-01015-0","DOIUrl":"10.1007/s12519-025-01015-0","url":null,"abstract":"<p><strong>Background: </strong>Transcranial Doppler (TCD) detects characteristic waveforms indicating cerebral circulatory arrest and has been widely applied as an ancillary test for adult brain death or death by neurologic criteria. However, its application in children remains controversial due to anatomical differences and limited evidence. This review outlines the current role of transcranial Doppler in confirming pediatric brain death or death by neurologic criteria, offering practical insights and directions for future research.</p><p><strong>Methods: </strong>A literature review was conducted on the use of transcranial Doppler to confirm pediatric brain death or death by neurologic criteria. This included original studies, meta-analyses, reviews, clinical guidelines, consensus statements, position papers, and legislation. Databases searched included PubMed, Embase, Cochrane Library, Web of Science, Google Scholar, China National Knowledge Infrastructure and Wanfang, covering records from inception to July 5, 2025. Search terms included \"transcranial Doppler\", \"TCD\", \"cerebral circulatory arrest\", \"death by neurologic criteria\", and \"brain death\".</p><p><strong>Results: </strong>The use of transcranial Doppler varies across countries for confirming pediatric brain death or death by neurologic criteria. Some recommend transcranial Doppler, while others do not. Diagnostic criteria, including vessel selection, interpretation of absent blood flow signals and the number of tests, also vary. Pediatric studies support the clinical value of transcranial Doppler in the determination of brain death or death by neurologic criteria, but small sample sizes, methodological inconsistencies, and false results due to hemodynamic instability, open fontanelles or skull defects limit firm conclusions. Transcranial color-coded Doppler may improve diagnostic accuracy in certain cases.</p><p><strong>Conclusions: </strong>Transcranial Doppler demonstrates considerable potential in confirming pediatric brain death or death by neurologic criteria, particularly in resource-limited or bedside settings. Given the current variability in clinical practice and the limitations of existing evidence, further large-scale, prospective studies are warranted to validate its role in this indication.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"303-314"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial intelligence in diagnosis of pediatric neurodevelopmental disorders: a scoping review.","authors":"María Alejandra Nieto Ramírez, Mateo Mariño Rodríguez, María José Castro Salas, Erwin Hernando Hernández Rincón","doi":"10.1007/s12519-025-00999-z","DOIUrl":"10.1007/s12519-025-00999-z","url":null,"abstract":"<p><strong>Background: </strong>Neurodevelopmental disorders are a group of conditions that affect key areas of development and may significantly impact a child's quality of life. This underscores the importance of accurate diagnostic tools to improve outcomes. Artificial intelligence (AI) has shown measurable effectiveness for enhancing the diagnosis and monitoring of neurodevelopmental disorders. This scoping review aims to summarize the current evidence on the use of AI technologies, including deep learning, supervised machine learning, decision support systems, and biosignal analysis, in improving diagnostic accuracy for pediatric neurodevelopmental disorders.</p><p><strong>Data sources: </strong>A systematic search was conducted across PubMed, LILACS, MEDLINE, Google Scholar, and psychology-indexed journals, covering publications from 2000 to January 2025. Keywords and Medical Subject Headings terms were used to search for and select studies, applying specific inclusion and exclusion criteria. Selection followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines and included clinical studies, reviews, and validation research. The data were extracted and synthesized descriptively.</p><p><strong>Results: </strong>Twenty-two studies were included. Deep learning models achieved diagnostic accuracies exceeding 85% in most studies in neuroimaging interpretation, whereas supervised machine learning improved the subtype classification of autism spectrum disorder and attention deficit hyperactivity disorder. Decision support systems have increased diagnostic efficiency, and biosignal-based AI has shown potential in identifying physiological markers related to neurodevelopmental disorders.</p><p><strong>Conclusions: </strong>AI technologies may significantly contribute to improving early diagnosis and clinical decision-making in pediatric neurodevelopment. However, variability in study design, population, and algorithm standardization remains a challenge. AI technologies are also facing ethical concerns such as data privacy and security, interpretability, equity and access, and algorithmic bias. Further multicenter validation and regulatory frameworks are essential for clinical translation.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"315-329"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13076480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146067595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.","authors":"Fei Xiao, Ming-Yue Cai, Bing-Yu Yang, Wu-Di Gu, Li-Li Wang, Hai-Ying Wu, Rong-Rong Xie, Feng-Yun Wang, Xiu-Li Chen, Lin-Qi Chen, Dan-Dan Zhang, Qing Wang, Hong-Ying Wang, Yu Jin, Xue-Qian Wang, Ting Chen","doi":"10.1007/s12519-026-01021-w","DOIUrl":"10.1007/s12519-026-01021-w","url":null,"abstract":"<p><strong>Background: </strong>Idiopathic short stature (ISS), a common cause of unexplained growth failure in children, remains poorly characterized at the genetic level. This study aimed to investigate the contribution of rare variant burdens in growth-related genes and pathways to the etiology of ISS using next-generation sequencing and gene-based burden testing, thereby identifying novel genetic contributors to the polygenic landscape of ISS.</p><p><strong>Methods: </strong>We analyzed 212 pediatric patients with short stature who remained undiagnosed following trio-based whole-exome sequencing. The comparison cohort included 352 healthy adults with normal stature and 4327 internal samples from the Exome Aggregation Consortium database. Gene-based burden testing was performed using an optimized TRAPD (testing rare variants using public data) framework. Functional enrichment analyses, including Kyoto Encyclopedia of Genes and Genomes and Gene Ontology pathway analyses, were conducted to delineate the biological processes associated with the identified candidate genes.</p><p><strong>Results: </strong>Under a dominant inheritance model, 3907 genes were significantly enriched in rare variants (P < 0.05), whereas 85 genes were significantly enriched under a recessive model (P < 0.05). The top 10 most significantly associated genes identified through primary modeling included FCGBP, FRAS1, MPDZ, and OBSCN, among which highly significant signals were identified (P < 1 × 10^-⁹). Pathway analyses revealed enrichment in steroid hormone biosynthesis, ascorbate and aldarate metabolism, pentose and glucuronate interconversions, and porphyrin metabolism. Key genes such as OBSCN, FRAS1, and MPDZ were involved in multiple enriched pathways.</p><p><strong>Conclusions: </strong>This study implicates rare variant burdens in growth-related genes as contributors to ISS pathogenesis, highlighting key genes (OBSCN, FCGBP, FRAS1, and MPDZ) and pathways involved. These findings suggest that the dysregulation of hormonal signaling, the extracellular matrix, and muscle-skeletal interactions impairs linear growth, suggesting potential diagnostic and therapeutic targets for ISS.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"362-371"},"PeriodicalIF":7.3,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Small-molecule therapies for pediatric inflammatory bowel disease: toward precision medicine.","authors":"Ying Chen, Yang Wang, Jing Guo, Ling-Fen Xu, Xu Teng","doi":"10.1007/s12519-025-01001-6","DOIUrl":"10.1007/s12519-025-01001-6","url":null,"abstract":"<p><strong>Background: </strong>Pediatric inflammatory bowel disease (pIBD) often begins early in life, progresses rapidly, and is associated with impaired growth and delayed development. These challenges demand treatment strategies that address both intestinal inflammation and the broader developmental needs of children.</p><p><strong>Data sources: </strong>This review summarizes current advances in small-molecule therapies for pIBD based on published clinical trials, real-world studies, and mechanistic investigations retrieved from PubMed and clinical trial registries. Special emphasis is placed on Janus kinase (JAK) inhibitors and sphingosine-1-phosphate (S1P) modulators, which represent the main translational research focus in pediatric IBD.</p><p><strong>Results: </strong>JAK inhibitors such as tofacitinib and upadacitinib have demonstrated promising efficacy in pediatric patients with refractory disease, although their use remains off-label worldwide. Long-term safety concerns persist, including infection risk, developmental effects, and potential risks of malignancy or major adverse cardiovascular events. S1P modulators such as ozanimod are under clinical evaluation in children, but robust long-term data are still lacking. Emerging technologies such as single-cell and spatial profiling have begun to reveal age-dependent remodeling of gut immune architecture, emphasizing the importance of developmentally informed therapeutic approaches.</p><p><strong>Conclusions: </strong>Small-molecule therapies offer a promising and mechanistically precise direction for the management of pIBD. Future progress will depend on age-specific clinical trials, physiologically based pharmacokinetic modeling, and biomarker discovery through integrated multiomics. Collaborative multicenter research is essential to optimize the safety and efficacy of these agents in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"212-224"},"PeriodicalIF":7.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12923488/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145688273","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seasonal variation in BMI outcomes at 6 months: secondary analyses of a multidisciplinary healthy lifestyle programme for children and adolescents with obesity.","authors":"José G B Derraik, Kima T Costelloe, Cervantée E K Wild, Lisa E Wynter, Mohammad Shahbaz, Paul L Hofman, Yvonne C Anderson","doi":"10.1007/s12519-025-01016-z","DOIUrl":"10.1007/s12519-025-01016-z","url":null,"abstract":"<p><strong>Background: </strong>While international evidence suggests seasonal variations may influence outcomes of interventions for pediatric obesity, data for Aotearoa New Zealand are limited. We examined seasonal variations in changes in body mass index standard deviation score (BMI SDS) in young people with obesity enrolled in an intervention programme.</p><p><strong>Methods: </strong>We studied 397 children and adolescents (median = 10.1 years; range 3.7-16.8 years) from Whānau Pakari, a multidisciplinary community-based healthy lifestyle programme (initially a randomised clinical trial that subsequently transitioned into the regional childhood obesity service). Participants were stratified by season at entry and 6-month BMI SDS changes (Δ) were evaluated. Lifestyle factors were also assessed. Data were analysed using traditional linear models and machine learning (random forest).</p><p><strong>Results: </strong>68% of participants had BMI SDS reductions at 6 months (mean = - 0.16 SDS; P < 0.0001). Linear models showed seasonal variations in programme effectiveness, with BMI SDS reductions among summer (- 0.17 SDS), autumn (- 0.19 SDS) and winter (- 0.18 SDS) but not among spring entrants. Random forest modelling identified higher baseline BMI SDS and younger age as the most influential predictors of greater 6-month reductions in BMI SDS. Season of entry was more important than any single lifestyle factor; spring entrants exhibited attenuated reductions relative to other seasons.</p><p><strong>Conclusions: </strong>The season at programme entry was an important factor associated with intervention effectiveness. Spring entry was associated with attenuated BMI SDS reductions, likely due to the inclusion of the summer holidays within the 6-month intervention. These findings highlight the need for targeted support during such unstructured periods to improve participant outcomes.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"234-246"},"PeriodicalIF":7.3,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12923471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146133242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}