Pediatric Research最新文献

{"title":"Hirschsprung's disease may increase the incidence of inflammatory bowel disease through alterations in CA1.","authors":"Enyang He, Bowen Shi, Miao Jia, Wenjing Sun, Kaili Chang, Hongyv Jiang, Wei Zhao, Hailan Zhao, Liang Dong, Xiaohong Die, Wei Feng, Hualei Cui","doi":"10.1038/s41390-025-03938-w","DOIUrl":"https://doi.org/10.1038/s41390-025-03938-w","url":null,"abstract":"<p><strong>Background: </strong>The role of Hirschsprung's disease (HSCR) for the development of inflammatory bowel disease (IBD) and the common pathogenesis of the diseases remains unclear. The objective is to investigate the relationship between HSCR and IBD.</p><p><strong>Methods: </strong>In our study, the Mendelian randomization approach was employed to analyze the causal relationships. A further search was conducted for differentially expressed genes (DEGs) between disease and control tissues in HSCR and IBD. Subsequently, the potential pathway mechanisms were subjected to an enrichment analysis. Furthermore, the molecular docking was employed to investigate the binding relationship between potential therapeutic targets and drugs.</p><p><strong>Results: </strong>The results show HSCR have an increased risk of developing IBD (IVW: OR = 1.048, P < 0.05; weighted median: OR = 1.065, P < 0.05). A total of 111 DEGs were identified in IBD, while 471 DEGs were observed in HSCR. CA1 was identified as core gene and exhibited lower expression levels in IBD (P < 0.05). Concomitantly, CA1 exhibited reduced expression levels in inflamed tissues. And the TNF and IL17 signaling pathway were found closely related to CA1 expression.</p><p><strong>Conclusion: </strong>In total, our study shows HSCR promote the occurrence of IBD and reveals pathogenesis. Our results suggest CA1 may provide novel insight for the treatment of HSCR complicated with IBD.</p><p><strong>Impact: </strong>Individuals with HSCR are at a higher risk of developing IBD (IVW: OR = 1.048, P < 0.05; Weighted median: OR = 1.065, P < 0.05). Patients with IBD exhibited lower expression levels of CA1 (P < 0.05). Furthermore, CA1 expression was found to be lower in inflamed tissues (P < 0.05). CA1 may provide novel insight for the treatment of HSCR complicated with IBD.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Readability of paediatric participant information leaflets in research studies.","authors":"Cian P O'Halloran, Abhishek Agarwal, Daniel B Hawcutt, Louise Oni, James Moss","doi":"10.1038/s41390-025-03943-z","DOIUrl":"https://doi.org/10.1038/s41390-025-03943-z","url":null,"abstract":"<p><strong>Background: </strong>Information leaflets in research studies should be age-appropriate to be understood, however the formal readability of children's participant information leaflets (PILs) for research studies has not been assessed.</p><p><strong>Methods: </strong>A single-centre cross-sectional study assessing paediatric PILs. Six readability tests were applied (Gunning Fog Index (GFI), Simple Measure of Gobbledygook (SMOG), Flesch Kincaid Grade Level (FKGL), Coleman-Liau Index (CLI), Automated Readability Index (ARI) and Flesch Reading Ease score (FRE). Results were compared between age groups, and whether the PIL was from either a commercially sponsored or investigator led study.</p><p><strong>Results: </strong>191 paediatric PILs were included. Age categories; <10 years (n = 65), ≤12 (n = 73), ≤15 (n = 73) and ≥16 (n = 61); were used for analysis. There were 39 commercial PILs and 226 non-commercial PILs. For the ≤10 and ≤12 age bands, all 6 median readability scores exceeded the target age group (thus hard to read, p < 0.005), and there was no difference in readability scores between these two age bands. Four scores from the readability tests were considered age-appropriate in the ≤15 year category, and all median scores were age-appropriate in the ≥16 years age groups. Readability scores for children's PILs were significantly higher in commercially sponsored versus non-commercial studies (P < 0.005).</p><p><strong>Conclusion: </strong>Improvements are required to make children's PILs readable for the target audience, particularly in commercially sponsored research studies.</p><p><strong>Impact: </strong>Paediatric participant information leaflets may not be readable in research studies, especially in younger age groups. PILs for children participating in commercially sponsored studies were less readable than non-commercial studies. Research teams writing PILs for a paediatric study need to consider the use of readability tools to ensure that the information they are providing is readable by the target audience.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electrical impedance tomography in neonates: a review.","authors":"Ako A Ako, Ahmed Ismaiel, Shantanu Rastogi","doi":"10.1038/s41390-025-03929-x","DOIUrl":"https://doi.org/10.1038/s41390-025-03929-x","url":null,"abstract":"<p><p>Appropriate interventions informed by real-time assessment of pulmonary function in mechanically ventilated critically ill neonates can reduce the incidence of bronchopulmonary dysplasia, pneumothorax, intraventricular hemorrhage and other complications of newborn life. The respiratory system in neonates is uniquely different from older children, and its physiological and anatomic attributes increase neonatal vulnerability to respiratory distress and eventual failure. While significant advancements have been made in developing respiratory support for neonates, such support is accompanied by inherent risks to their delicate lungs. Ventilator-associated lung injury poses a critical concern that can be potentially decreased with more precise, non-invasive, non-radiating, bedside methods for assessing neonatal pulmonary function in real time. Electrical impedance tomography (EIT) is one such tool, with immense potential for real-time pulmonary function monitoring in neonates. Still relatively new and in the earliest stages of clinical adoption, EIT use in neonatal critical care has been reported in several studies. This review discusses the basic features of EIT, its distinct advantages over traditional pulmonary function monitoring tools, the scope of its adoption in neonatal clinical practice, challenges associated with clinical adoption, and prospects for future applications. IMPACT: 1. Individualized care assisted by bedside pulmonary function monitoring can positively impact neonatal critical care and outcomes. 2. Electrical impedance tomography (EIT) has the potential to improve neonatal pulmonary function monitoring and treatment outcomes. 3. Electrical impedance tomography can be adopted as a part of routine neonatal respiratory critical care, especially in the population of patients most at risk for bronchopulmonary dysplasia and acute respiratory complications.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between screen use and internalizing/externalizing problems among preschoolers: the mediation of circadian rhythm.","authors":"Jia Zhao, Naixue Cui, Yan Li, Guanghai Wang, Shunpeng Hu, Yinjun Hao, Jianghong Liu","doi":"10.1038/s41390-025-03944-y","DOIUrl":"https://doi.org/10.1038/s41390-025-03944-y","url":null,"abstract":"<p><strong>Background: </strong>Circadian disruption has been proposed as an etiological mechanism for psychopathology, yet its role in the relationship between screen use and emotional and behavioral problems remains under-investigated. This study aimed to examine the mediating effect of circadian rhythm in this relationship among young children.</p><p><strong>Methods: </strong>This cross-sectional study analyzed data from 1111 children aged 2 to 7 years recruited from six kindergartens between March 2022 and June 2024. Parents reported children's screen time and use before sleep. Parents and teachers assessed internalizing and externalizing problems using the Strengths and Difficulties Questionnaire. Circadian rhythm, including chronotype and midsleep on free days corrected for sleep debt (MSF_sc), was measured using the Children's ChronoType Questionnaire. In a subsample, MSF_sc was also measured using actigraphy and sleep diaries.</p><p><strong>Results: </strong>Screen use was significantly associated with parent-reported internalizing and externalizing problems. Chronotype significantly mediated the relationships between screen use and parent-reported outcomes, whereas the results were not reproducible using MSF_sc derived from survey, actigraphy and sleep diaries.</p><p><strong>Conclusion: </strong>The mediation of delayed circadian phase in the relationship between screen use and internalizing and externalizing problems in young children may be negligible. Future research should explore the role of other circadian parameters in this relationship.</p><p><strong>Impact statement: </strong>Circadian disruption has been suggested as a potential mechanism linking screen-based media exposure to psychopathology. Using a triangulation approach that combined multiple data sources-survey, actigraphy, and sleep diaries-we found that the mediating effects of delayed circadian phase in the relationships between screen use and internalizing and externalizing problems were minimal in children aged 2 to 7 years. Future research should explore alternative circadian pathways and examine the long-term developmental effects of screen use during early childhood.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scientific evolution from the definition of Hirschsprung disease to the present: a bibliometric analysis (1980-2023).","authors":"Nurcan Çoşkun, Mehmet Metin","doi":"10.1038/s41390-025-03927-z","DOIUrl":"https://doi.org/10.1038/s41390-025-03927-z","url":null,"abstract":"<p><strong>Background: </strong>The primary objective of this study is to define the global productivity of Hirschsprung disease (HSCR), identify influential studies, determine research directions focused on both historical and contemporary perspectives.</p><p><strong>Methods: </strong>The study obtained 2816 articles published between 1980 and 2023 related to HSCR from the Web of Science database, and comprehensive bibliometric analysis were conducted.</p><p><strong>Results: </strong>The top three most productive countries were the USA (n = 1283), China (n = 1167), and Japan (n = 587). The most productive institution was Université Paris Cité (n = 149), and the most productive author was Prem Puri (n = 99). The most frequently used keywords in the articles were enterocolitis (n = 191), enteric nervous system (n = 136), and transanal endorectal pull-through (n = 129).</p><p><strong>Conclusion: </strong>Academic interest in HSCR began in 1887-1888, significantly increased in 1948 and 1964, and reached its highest peak in 1994. The findings indicate that key topics such as enterocolitis, enteric nervous system, surgical techniques, and genetic factors have been prominent in HSCR research. Previous studies, which often focused on molecular and genetic mechanisms, have shifted towards clinical and surgical applications in the last decade. Factor analysis reveals the complexity and diversity of HSCR research, with various topics examined, including clinical features, surgical treatments, pathological findings, and genetic bases.</p><p><strong>Impact statement: </strong>This study presents a comprehensive bibliometric analysis of global research trends and future directions in Hirschsprung disease, revealing significant changes and developments in the study of the disease. The study provides an important contribution to the existing literature by detailing the historical development, main research topics, and thematic evolution of Hirschsprung disease research. The findings indicate that future research focus in Hirschsprung disease may increasingly prioritize innovative approaches, such as stem cell therapy, alongside clinical and surgical advancements. These advancements have the potential to enhance patient quality of life and guide future research strategies.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Infant sleep EEG features at 4 months as biomarkers of neurodevelopment at 18 months.","authors":"Soraia Ventura, Sean R Mathieson, John M O'Toole, Vicki Livingstone, Deirdre M Murray, Geraldine B Boylan","doi":"10.1038/s41390-025-03893-6","DOIUrl":"https://doi.org/10.1038/s41390-025-03893-6","url":null,"abstract":"<p><strong>Background: </strong>Sleep parameters evolve in parallel with neurodevelopment. Sleep participates in synaptic homeostasis and memory consolidation and infant sleep parameters correlate with later aspects of early childhood cognition.</p><p><strong>Methods: </strong>Typically developing, term-born infants had a diurnal sleep-EEG at 4 months and Griffiths III developmental assessment at 18 months. EEG analysis included sleep macrostructure (i.e. durations of total sleep and sleep stages, and latencies to sleep and REM), sleep spindle features, and quantitative EEG features (qEEG): interhemispheric connectivity and spectral power. We assessed the correlations between these EEG features and Griffiths III quotients.</p><p><strong>Results: </strong>Sleep recordings from 92 infants were analyzed. Sleep latency was positively associated with the Griffiths III Foundations of Learning subscale and N3 sleep duration was positively correlated with the Personal-Social-Emotional subscale. Sleep spindle synchrony was negatively associated with Eye and Hand Coordination, Personal-Social-Emotional, Gross Motor, and General Development quotients. Sleep spindle duration was negatively associated with the Personal-Social-Emotional and Gross Motor subscales. In some sleep states, delta 1 and 2 EEG spectral power and interhemispheric coherence measures were correlated with subscale quotients.</p><p><strong>Conclusion: </strong>Certain sleep features in the EEG of 4-month-old infants are associated with neurodevelopment at 18 months and may be useful early biomarkers of neurodevelopment.</p><p><strong>Impact: </strong>This study shows that the EEG during infant sleep may provide insights into later neurodevelopmental outcomes. We have examined novel EEG sleep spindle features and shown that spindle duration and synchrony may help predict neurodevelopmental outcomes. Sleep macrostructure elements such as latency to sleep, N3 duration, and qEEG features such as interhemispheric coherence and spectral power measures at 4 months may be useful for the assessment of future neurodevelopmental outcomes. Due to exceptional neuroplasticity in infancy, EEG biomarkers of neurodevelopment may support early and targeted intervention to optimize outcomes.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Child somatic growth and neurodevelopment: effects of pregnancy lifestyle intervention.","authors":"Kristina Geyer, Roxana Raab, Monika Spies, Johanna Knoke, Dorothy Meyer, Stephanie Brandt-Heunemann, Hans Hauner","doi":"10.1038/s41390-025-03936-y","DOIUrl":"10.1038/s41390-025-03936-y","url":null,"abstract":"<p><strong>Objective: </strong>Maternal health behavior influences offspring health and obesity risk. This study examined the long-term effects of an antenatal lifestyle intervention on somatic growth and neurodevelopment of preschool-aged children.</p><p><strong>Methods: </strong>We followed children born to women in the cluster-randomized GeliS trial who received usual care (CG) or lifestyle counseling (IG). Anthropometrics and neurodevelopment data for children aged 4 and 5 were collected from routine health examinations and the Ages-and-Stages Questionnaire (ASQ).</p><p><strong>Results: </strong>Of 2 286 women initially enrolled, 1 403 reported on their child's development. The intervention had no effect on weight, height, head circumference, BMI, or percentiles and z-scores at ages 4 and 5. In IG compared to CG, the proportion of children with underweight was lower (4 years: 7.8% vs. 10.9%; 5 years: 8.1% vs. 8.9%), while overweight (4 years: 6.5% vs. 4.2%; 5 years: 5.1% vs. 3.4%) and obesity proportions (4 years: 1.0% vs. 1.1%; 5 years: 2.7% vs. 1.6%) were higher. IG children were more likely to fall into a higher weight category at 4 (p = 0.017) and 5 years (p = 0.075). ASQ scores were similar across both groups.</p><p><strong>Conclusion: </strong>Despite slight weight differences, the pregnancy lifestyle intervention had no meaningful impact on child somatic growth or neurodevelopment up to age 5.</p><p><strong>Impact: </strong>This comprehensive antenatal lifestyle intervention, executed as a large-scale real-world effectiveness trial, did not demonstrate any long-term effect on children's anthropometry or their risk of overweight or obesity up to 5 years of age. No discernible intervention effects were observed concerning children's neurodevelopment outcomes. Personalized antenatal interventions targeting the individual risk profiles of pregnant women may be needed to substantially modify lifestyle behaviors and achieve sustainable impacts on child development and obesity risk.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuropathiazol induces neuronal-like differentiation in neuroblastoma cells via upregulation of PEG5.","authors":"Hao Xu, Fei Zhang, Yi Xu, Tianpeng Chen, Fenqian Yuan, Qihong Nie","doi":"10.1038/s41390-025-03925-1","DOIUrl":"https://doi.org/10.1038/s41390-025-03925-1","url":null,"abstract":"<p><strong>Background: </strong>Differentiation therapy is emerging as a promising strategy for treating neuroblastoma. However, the effects of neuropathiazol, a small molecule known to induce neuronal differentiation, have not been explored in neuroblastoma.</p><p><strong>Procedure: </strong>Neuroblastoma cell lines were used to investigate the effects of neuropathiazol and retinoic acid on cell morphology, proliferation, and invasion in vitro. In vivo, neuroblastoma cells were implanted in nude mice to assess neuropathiazol's therapeutic potential. Silver staining and markers of mature neurons were employed to evaluate neuropathiazol's ability to promote neuronal differentiation.</p><p><strong>Results: </strong>Neuropathiazol significantly inhibited the proliferation and invasion of neuroblastoma cells in vitro. It also enhanced synaptic growth and increased the expression of mature neuron markers more effectively than retinoic acid. Neuropathiazol treatment upregulated PEG5 expression, suggesting its role in promoting neuronal differentiation. Silencing PEG5 reversed these differentiation effects, reducing neuronal features. In vivo, neuropathiazol suppressed tumor growth and induced neuron-like differentiation in tumor tissues. However, its efficacy was diminished when PEG5 was knocked down. Additionally, neuropathiazol synergized with cyclophosphamide, enhancing its anti-neuroblastoma effects.</p><p><strong>Conclusion: </strong>Neuropathiazol induces neuroblastoma differentiation, partly through PEG5 upregulation. As a promising differentiating agent for neuroblastoma, the combination of neuropathiazol and cyclophosphamide offers a potential treatment strategy for the disease.</p><p><strong>Impact: </strong>Neuropathiazol significantly inhibits neuroblastoma cell proliferation and invasion in vitro. Neuropathiazol promotes synaptic growth and upregulates mature neuronal marker expression more effectively than retinoic acid. Neuropathiazol induces significant neuronal-like differentiation of neuroblastoma cells in vivo, leading to tumor growth suppression. PEG5 is identified as a critical mediator of neuropathiazol's differentiation-inducing effects. Knockdown of PEG5 reverses these effects, underscoring its pivotal role. The combination of neuropathiazol with cyclophosphamide synergistically enhances anti-neuroblastoma effects, offering a compelling pharmacotherapeutic strategy.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Research on Human milk feeding to drive impactful immune health and outcomes in vulnerable preterm infants should evaluate maternal confounders.","authors":"Christina J Valentine","doi":"10.1038/s41390-025-03932-2","DOIUrl":"https://doi.org/10.1038/s41390-025-03932-2","url":null,"abstract":"","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Community-oriented, hospital level genetics: a new approach to improve access for underserved communities.","authors":"Yoel Gofin, Fadel Tibi, Eliana Fanous, Shay Ben-Shachar, Rivka Sukenik-Halevy","doi":"10.1038/s41390-025-03908-2","DOIUrl":"https://doi.org/10.1038/s41390-025-03908-2","url":null,"abstract":"<p><strong>Background: </strong>Certain populations are at increased risk for genetic syndromes but have limited access to genetic testing.</p><p><strong>Methods: </strong>We founded a community-based, pediatric genetics clinic in the Muslim-Arab city of Tayibe, Israel. Children with suspected genetic conditions of consanguineous parents, or families with two or more affected siblings were referred by local staff. The clinic was staffed by a Meir Medical Center (MMC) clinical geneticist. Blood samples were collected during the initial visit. Tests were publicly funded, with no parental involvement in administrative procedures required. A control group consisted of MMC pediatric genetics clinic patients.</p><p><strong>Results: </strong>During the first year, 30 children were assessed. No patients were lost to follow-up, compared to 8 (28%) in the MMC control group. The average time to test results was shorter in the Tayibe group and the diagnostic rate was higher, with 27.6% receiving a diagnosis (42.9%, excluding autism cases).</p><p><strong>Conclusion: </strong>Our first-year experience shows the success and promising results of this model, with advantages in almost all parameters, compared to the traditional, hospital-based clinic. Factors such as faster time-to-results, greater family adherence and satisfaction, and zero lost to follow-up rate suggest considering implementing this model for providing genetic services to other underserved populations.</p><p><strong>Impact: </strong>A community-oriented approach for a pediatric genetics clinic allowed reaching high-risk populations, with increased adherence, faster results and a higher yield. Our clinic relied solely on available public funding and staff, requiring no additional contributions. The current dogma of hospital-based genetics services should be reconsidered.</p>","PeriodicalId":19829,"journal":{"name":"Pediatric Research","volume":" ","pages":""},"PeriodicalIF":3.1,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}