Pub Date : 2024-08-07DOI: 10.1101/2024.08.06.24311554
TEEBENY ZULU, Choolwe Jacobs, Godfrey Biemba, Patrick Musonda
Background: Although early neonatal mortality (ENM) has been reported to have a greater contribution to the overall neonatal mortality compared to late neonatal mortality, no meta-analysis has studied this phenomenon in isolation. The prevalence of ENM and its predictors in sub-Saharan Africa (SSA) remains unknown. Therefore, this meta-analysis is aimed at pooling the prevalence of ENM and its predictors in SSA. Methods: Google Scholar, PubMed, Scopus, CINAHL, and Google were searched for studies conducted in SSA that reported the prevalence and predictors of ENM. The data were extracted using a Microsoft Excel spreadsheet and imported into R version 4.4.1 for further analysis. Publication bias, heterogeneity, sensitivity analysis, and subgroup analysis were performed. Prevalence and odds ratios were pooled using the random effects model if significant heterogeneity existed; otherwise, the fixed effects model was used. Results: A total of 26 studies were included in this systematic review and meta-analysis. The overall pooled prevalence of ENM in SSA was 11% (95% CI: 7-15; I2=100%). Birth asphyxia (OR=3.85; 95% CI: 1.12-13.21; P = 0.0388; I2= 86.6%), home delivery (OR=2.46; 95% CI: 1.79-3.38; p<0.001; I2 = 0.0%), prematurity (OR=4.69; 95% CI: 3.57-6.16; p<0.001; I2 = 36.8%), male gender (OR= 1.37; 95% CI: 1.28-1.46; P < 0.001; I2 = 30.7%), delivery through caesarean section (OR=1.74; 95% CI: 1.49-2.02; P < 0.001; I2 = 31.5%) and low birth weight (OR=3.00; 95% CI: 1.01-8.91; P = 0.0482; I2 = 94.4%) were associated with a significant increase in pooled odds of ENM in SSA. Conclusion: The prevalence of ENM in SSA in significantly high and it contributes greatly to the overall neonatal mortality. Therefore, tailor-made interventions that target the reduction of birth asphyxia, prematurity, home delivery, and low birth weight should be implemented in order to reduce the burden of ENM in SSA.
{"title":"Prevalence of early neonatal mortality and its predictors in sub-Saharan Africa: A Systematic review and Meta-Analysis.","authors":"TEEBENY ZULU, Choolwe Jacobs, Godfrey Biemba, Patrick Musonda","doi":"10.1101/2024.08.06.24311554","DOIUrl":"https://doi.org/10.1101/2024.08.06.24311554","url":null,"abstract":"Background: Although early neonatal mortality (ENM) has been reported to have a greater contribution to the overall neonatal mortality compared to late neonatal mortality, no meta-analysis has studied this phenomenon in isolation. The prevalence of ENM and its predictors in sub-Saharan Africa (SSA) remains unknown. Therefore, this meta-analysis is aimed at pooling the prevalence of ENM and its predictors in SSA.\u0000Methods: Google Scholar, PubMed, Scopus, CINAHL, and Google were searched for studies conducted in SSA that reported the prevalence and predictors of ENM. The data were extracted using a Microsoft Excel spreadsheet and imported into R version 4.4.1 for further analysis. Publication bias, heterogeneity, sensitivity analysis, and subgroup analysis were performed. Prevalence and odds ratios were pooled using the random effects model if significant heterogeneity existed; otherwise, the fixed effects model was used. Results: A total of 26 studies were included in this systematic review and meta-analysis. The overall pooled prevalence of ENM in SSA was 11% (95% CI: 7-15; I2=100%). Birth asphyxia (OR=3.85; 95% CI: 1.12-13.21; P = 0.0388; I2= 86.6%), home delivery (OR=2.46; 95% CI: 1.79-3.38; p<0.001; I2 = 0.0%), prematurity (OR=4.69; 95% CI: 3.57-6.16; p<0.001; I2 = 36.8%), male gender (OR= 1.37; 95% CI: 1.28-1.46; P < 0.001; I2 = 30.7%), delivery through caesarean section (OR=1.74; 95% CI: 1.49-2.02; P < 0.001; I2 = 31.5%) and low birth weight (OR=3.00; 95% CI: 1.01-8.91; P = 0.0482; I2 = 94.4%) were associated with a significant increase in pooled odds of ENM in SSA.\u0000Conclusion: The prevalence of ENM in SSA in significantly high and it contributes greatly to the overall neonatal mortality. Therefore, tailor-made interventions that target the reduction of birth asphyxia, prematurity, home delivery, and low birth weight should be implemented in order to reduce the burden of ENM in SSA.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"44 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141946252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-07DOI: 10.1101/2024.08.06.24311544
Cameron C Young, Ellie Enichen, Arya S Rao, Sidney Hilker, Alex Butler, Jessica Laird-Gion, Marc D. Succi
There exists a gap in existing patient education resources for children with chronic conditions. This pilot study assesses large language models' (LLMs) capacity to deliver developmentally appropriate explanations of chronic conditions to pediatric patients. Two commonly used LLMs generated responses that accurately, appropriately, and effectively communicate complex medical information, making them a potentially valuable tool for enhancing patient understanding and engagement in clinical settings.
{"title":"Pilot Study of Large Language Models as an Age-Appropriate Explanatory Tool for Chronic Pediatric Conditions","authors":"Cameron C Young, Ellie Enichen, Arya S Rao, Sidney Hilker, Alex Butler, Jessica Laird-Gion, Marc D. Succi","doi":"10.1101/2024.08.06.24311544","DOIUrl":"https://doi.org/10.1101/2024.08.06.24311544","url":null,"abstract":"There exists a gap in existing patient education resources for children with chronic conditions. This pilot study assesses large language models' (LLMs) capacity to deliver developmentally appropriate explanations of chronic conditions to pediatric patients. Two commonly used LLMs generated responses that accurately, appropriately, and effectively communicate complex medical information, making them a potentially valuable tool for enhancing patient understanding and engagement in clinical settings.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141946251","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-05DOI: 10.1101/2024.08.02.24311434
Jacob R Bjork, Jeanette K Kenley, Caleb Gardner, Aidan Latham, Tara A Smyser, J Philip Miller, Joshua J Shimony, Jeffrey J Neil, Barbara Warner, Joan Luby, Deanna M Barch, Cynthia E Rogers, Christopher D Smyser, Rachel E Lean
Background: Early life adversity is associated with microstructural alterations in white matter regions that subserve language. However, the mediating and moderating pathways between adversities experienced in utero and key neonatal white matter tracts including the corpus callosum (CC), superior longitudinal fasciculus (SLF), arcuate fasciculus (AF), inferior fronto-occipital fasciculus (IFOF), and uncinate on early language outcomes remains unknown. Methods: This longitudinal study includes 160 neonates, oversampled for prenatal exposure to adversity, who underwent diffusion MRI (dMRI) in the first weeks of life. dMRI parameters were obtained using probabilistic tractography in FSL. Maternal Social Disadvantage and Psychosocial Stress was assessed throughout pregnancy. At age 2 years, the Bayley Scales of Infant and Toddler Development-III evaluated language outcomes. Linear regression, mediation, and moderation assessed associations between prenatal adversities and neonatal white matter on language outcomes. Results: Prenatal exposure to Social Disadvantage (p<.001) and Maternal Psychosocial Stress (p<.001) were correlated with poorer language outcomes. When Social Disadvantage and maternal Psychosocial Stress were modeled simultaneously in relation to language outcomes, only Social Disadvantage was significant (p<.001). Independent of Social Disadvantage (p<.001), lower neonatal CC fractional anisotropy (FA) was related to poorer global (p=.02) and receptive (p=.02) language outcomes. CC FA did not mediate the association between Social Disadvantage and language outcomes (indirect effect 95% CIs -0.96-0.15), and there was no interaction between Social Disadvantage and CC FA on language outcomes (p>.05). Bilateral SLF/AF, IFOF, and uncinate were not significant (p>.05). Conclusions: Prenatal exposure to Social Disadvantage and neonatal CC FA were independently related to language problems by age 2, with no evidence of mediating or moderating associations with language outcomes. These findings elucidate the early neural underpinnings of language development and suggest that the prenatal period may be an important time to provide poverty-reducing support to expectant mothers to promote offspring neurodevelopmental outcomes.
背景：早年的逆境与语言白质区域的微结构改变有关。然而，宫内逆境与胼胝体（CC）、上纵筋束（SLF）、弓状筋束（AF）、下额枕筋束（IFOF）和脐带等新生儿白质关键束之间的中介和调节途径对早期语言结果的影响仍不清楚。研究方法这项纵向研究包括160名新生儿，他们在出生后几周内接受了弥散核磁共振成像（dMRI）检查。母亲的社会不利条件和社会心理压力评估贯穿整个孕期。2 岁时，贝利婴幼儿发展量表-III 对语言结果进行了评估。线性回归、中介和调节评估了产前逆境和新生儿白质对语言结果的影响。研究结果产前社会不利条件（p< .001）和母亲社会心理压力（p< .001）与较差的语言结果相关。当社会不利条件和产妇社会心理压力同时与语言结果相关时，只有社会不利条件具有显著性（p< .001）。与社会不利条件无关（p< .001），新生儿较低的CC分数各向异性（FA）与较差的全局语言（p=.02）和接受语言（p=.02）结果有关。CC分数各向异性并不介导社会不利条件与语言结果之间的关联（间接效应95% CIs -0.96-0.15），而且社会不利条件与CC分数各向异性对语言结果没有交互作用（p> .05）。双侧 SLF/AF、IFOF 和 uncinate 的影响不显著（p> .05）。结论产前暴露于社会不利条件和新生儿 CC FA 与 2 岁时的语言问题独立相关，没有证据表明它们与语言结果存在中介或调节关系。这些发现阐明了语言发展的早期神经基础，并表明产前时期可能是为准妈妈提供减贫支持以促进后代神经发育的重要时期。
{"title":"Associations between prenatal adversity and neonatal white matter microstructure on language outcomes at age 2 years","authors":"Jacob R Bjork, Jeanette K Kenley, Caleb Gardner, Aidan Latham, Tara A Smyser, J Philip Miller, Joshua J Shimony, Jeffrey J Neil, Barbara Warner, Joan Luby, Deanna M Barch, Cynthia E Rogers, Christopher D Smyser, Rachel E Lean","doi":"10.1101/2024.08.02.24311434","DOIUrl":"https://doi.org/10.1101/2024.08.02.24311434","url":null,"abstract":"Background: Early life adversity is associated with microstructural alterations in white matter regions that subserve language. However, the mediating and moderating pathways between adversities experienced in utero and key neonatal white matter tracts including the corpus callosum (CC), superior longitudinal fasciculus (SLF), arcuate fasciculus (AF), inferior fronto-occipital fasciculus (IFOF), and uncinate on early language outcomes remains unknown. Methods: This longitudinal study includes 160 neonates, oversampled for prenatal exposure to adversity, who underwent diffusion MRI (dMRI) in the first weeks of life. dMRI parameters were obtained using probabilistic tractography in FSL. Maternal Social Disadvantage and Psychosocial Stress was assessed throughout pregnancy. At age 2 years, the Bayley Scales of Infant and Toddler Development-III evaluated language outcomes. Linear regression, mediation, and moderation assessed associations between prenatal adversities and neonatal white matter on language outcomes. Results: Prenatal exposure to Social Disadvantage (p<.001) and Maternal Psychosocial Stress (p<.001) were correlated with poorer language outcomes. When Social Disadvantage and maternal Psychosocial Stress were modeled simultaneously in relation to language outcomes, only Social Disadvantage was significant (p<.001). Independent of Social Disadvantage (p<.001), lower neonatal CC fractional anisotropy (FA) was related to poorer global (p=.02) and receptive (p=.02) language outcomes. CC FA did not mediate the association between Social Disadvantage and language outcomes (indirect effect 95% CIs -0.96-0.15), and there was no interaction between Social Disadvantage and CC FA on language outcomes (p>.05). Bilateral SLF/AF, IFOF, and uncinate were not significant (p>.05). Conclusions: Prenatal exposure to Social Disadvantage and neonatal CC FA were independently related to language problems by age 2, with no evidence of mediating or moderating associations with language outcomes. These findings elucidate the early neural underpinnings of language development and suggest that the prenatal period may be an important time to provide poverty-reducing support to expectant mothers to promote offspring neurodevelopmental outcomes.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141946240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-26DOI: 10.1101/2024.07.25.24311009
Luana Conte, Ilaria Amodeo, Giorgio De Nunzio, Genny Raffaeli, Irene Borzani, Nicola Persico, Alice Griggio, Giuseppe Como, Mariarosa Colnaghi, Monica Fumagalli, Donato Cascio, Giacomo Cavallaro
Prenatal prediction of postnatal outcomes in newborns with congenital diaphragmatic hernia (CDH) remains challenging, especially for mortality and neonatal persistent pulmonary hypertension (PPHN). Despite the increasing utilization of advanced artificial intelligence (AI) technologies in the neonatal field, this study is pioneering in exploring AI methodologies in the context of CDH. It represents an initial attempt to implement a Machine Learning (ML) system to predict postnatal mortality and PPHN severity, using prenatal and early postnatal data as input variables. We enrolled 50 patients with isolated left-sided CDH from singleton pregnancies and retrospectively collected clinical and imaging variables from fetal ultrasound (US) and shape features extracted from magnetic resonance imaging (MRI), combined with gestational age and birth weight. A supervised ML model for predicting mortality and PPHN severity was developed, achieving good accuracy (88% for mortality prediction and 82% for PPHN) and sensitivity (95% for mortality and 85% for PPHN). The area under the curve (AUC) of the ROC curve was 0.88 for mortality and 0.82 for PPHN predictions. Our results may lead to novel AI applications in the neonatal field, focusing on predicting postnatal outcomes based on prenatal data, ultimately improving prognostic assessments and intervention strategies for such a complex disease.
{"title":"A machine learning approach to predict mortality and pulmonary hypertension severity in newborns with congenital diaphragmatic hernia","authors":"Luana Conte, Ilaria Amodeo, Giorgio De Nunzio, Genny Raffaeli, Irene Borzani, Nicola Persico, Alice Griggio, Giuseppe Como, Mariarosa Colnaghi, Monica Fumagalli, Donato Cascio, Giacomo Cavallaro","doi":"10.1101/2024.07.25.24311009","DOIUrl":"https://doi.org/10.1101/2024.07.25.24311009","url":null,"abstract":"Prenatal prediction of postnatal outcomes in newborns with congenital diaphragmatic hernia (CDH) remains challenging, especially for mortality and neonatal persistent pulmonary hypertension (PPHN). Despite the increasing utilization of advanced artificial intelligence (AI) technologies in the neonatal field, this study is pioneering in exploring AI methodologies in the context of CDH. It represents an initial attempt to implement a Machine Learning (ML) system to predict postnatal mortality and PPHN severity, using prenatal and early postnatal data as input variables. We enrolled 50 patients with isolated left-sided CDH from singleton pregnancies and retrospectively collected clinical and imaging variables from fetal ultrasound (US) and shape features extracted from magnetic resonance imaging (MRI), combined with gestational age and birth weight. A supervised ML model for predicting mortality and PPHN severity was developed, achieving good accuracy (88% for mortality prediction and 82% for PPHN) and sensitivity (95% for mortality and 85% for PPHN). The area under the curve (AUC) of the ROC curve was 0.88 for mortality and 0.82 for PPHN predictions. Our results may lead to novel AI applications in the neonatal field, focusing on predicting postnatal outcomes based on prenatal data, ultimately improving prognostic assessments and intervention strategies for such a complex disease.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141771381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-24DOI: 10.1101/2024.07.23.24310777
Rena Xu, Louisa Bode, Alon Geva, Kenneth D. Mandl, Andrew J. McMurry
Objectives: According to the ideation-to-action framework of suicidality, suicidal ideation and suicidal action arise via distinct trajectories. Studying suicidality under this framework requires accurate identification of both ideation and action. We sought to assess the accuracy of ICD-10 codes for suicidal ideation and action in emergency department (ED) encounters. Methods: Accuracy of ICD-10 coding for suicidality was assessed through chart review of clinical notes for 205 ED encounters among patients 6-18 years old at a large academic pediatric hospital between June 1, 2016, and June 1, 2022. Physician notes were reviewed for documentation of past or present suicidal ideation, suicidal action, or both. The study cohort consisted of 103 randomly selected "cases," or encounters assigned at least one ICD-10 code for suicidality, and 102 propensity-matched "non-cases" lacking ICD-10 codes. Accuracy of ICD-10 codes was assessed using sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Results: Against a gold standard chart review, the PPV for ICD-10 suicidality codes was 86.9%, and the NPV was 76.2%. Nearly half of encounters involving suicidality were not captured by ICD-10 coding (sensitivity=53.4%). Sensitivity was higher for ideation-present (82.4%) than for action-present (33.7%) or action-past (20.4%). Conclusions: Many cases of suicidality may be missed by relying on only ICD-10 codes. Accuracy of ICD-10 codes is high for suicidal ideation but low for action. To scale the ideation-to-action model for use in large populations, better data sources are needed to identify cases of suicidal action.
{"title":"Accuracy of ICD-10 Codes for Suicidal Ideation and Action in Pediatric Emergency Department Encounters","authors":"Rena Xu, Louisa Bode, Alon Geva, Kenneth D. Mandl, Andrew J. McMurry","doi":"10.1101/2024.07.23.24310777","DOIUrl":"https://doi.org/10.1101/2024.07.23.24310777","url":null,"abstract":"Objectives: According to the ideation-to-action framework of suicidality, suicidal ideation and suicidal action arise via distinct trajectories. Studying suicidality under this framework requires accurate identification of both ideation and action. We sought to assess the accuracy of ICD-10 codes for suicidal ideation and action in emergency department (ED) encounters. Methods: Accuracy of ICD-10 coding for suicidality was assessed through chart review of clinical notes for 205 ED encounters among patients 6-18 years old at a large academic pediatric hospital between June 1, 2016, and June 1, 2022. Physician notes were reviewed for documentation of past or present suicidal ideation, suicidal action, or both. The study cohort consisted of 103 randomly selected \"cases,\" or encounters assigned at least one ICD-10 code for suicidality, and 102 propensity-matched \"non-cases\" lacking ICD-10 codes. Accuracy of ICD-10 codes was assessed using sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV).\u0000Results: Against a gold standard chart review, the PPV for ICD-10 suicidality codes was 86.9%, and the NPV was 76.2%. Nearly half of encounters involving suicidality were not captured by ICD-10 coding (sensitivity=53.4%). Sensitivity was higher for ideation-present (82.4%) than for action-present (33.7%) or action-past (20.4%).\u0000Conclusions: Many cases of suicidality may be missed by relying on only ICD-10 codes. Accuracy of ICD-10 codes is high for suicidal ideation but low for action. To scale the ideation-to-action model for use in large populations, better data sources are needed to identify cases of suicidal action.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"63 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141771423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-24DOI: 10.1101/2024.07.24.24310922
Rebeca Mozun, Fabiën N. Belle, Andrea Agostini, Matthias R. Baumgartner, Jacques Fellay, Christopher B. Forrest, D Sean Froese, Eric Giannoni, Sandra Goetze, Katrin Hofmann, Philipp Latzin, Roger Lauener, Aurelie Martin Necker, Kelly E. Ormond, Jana Pachlopnik, Patrick G. A. Pedrioli, Klara M. Posfay Barbe, Anita Rauch, Sven Schulzke, Martin Stocker, Ben D. Spycher, Effy Vayena, Tatjana Welzel, Nicola Zamboni, Julia E. Vogt, Luregn J. Schlapbach, Julia A. Bielicki, Claudia E. Kuehni
Introduction: Children represent a large and vulnerable patient group. However, the evidence-base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is urgency to improve paediatric health care provision based on real-world evidence generation. The digital transformation is a unique opportunity to shape a data-driven, agile, learning health care system and deliver more efficient and personalized care to children and their families. The goal of SwissPedHealth is to build a sustainable and scalable infrastructure to make routine clinical data from paediatric hospitals in Switzerland interoperable, standardized, quality-controlled, and ready for observational research, quality assurance, trials, and health-policy creation. This paper describes the design, aims, and current achievements of SwissPedHealth. Methods and analysis: SwissPedHealth started in September 2022 as one of four National Data Streams co-funded by the Swiss Personalized Health Network (SPHN) and the Personalized Health and Related Technologies (PHRT). SwissPedHealth develops modular governance and regulatory strategies, and harnesses SPHN automatization procedures, in collaboration with clinical data warehouses, the Data Coordination Center, Biomedical Information Technology Network, and other SPHN institutions and funded projects. The SwissPedHealth consortium is led by a multi-site, multi-disciplinary Steering Committee incorporating patient and family representatives. The data stream contains work packages focusing on: 1) governance and implementation of standardized data collection, 2) nested projects to test the feasibility of the data stream, 3) a lighthouse project that enriches the data stream by integrating multi-omics data, aiming to improve diagnoses of rare diseases, and 4) engagement with families through patient and public involvement activities and bioethics interviews. Ethics and dissemination: The health database regulation of SwissPedHealth was approved by the ethics committee (AO_2022-00018). Research findings will be disseminated through national and international conferences, publications in peer-reviewed journals and in lay language via online media and podcasts.
{"title":"Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream","authors":"Rebeca Mozun, Fabiën N. Belle, Andrea Agostini, Matthias R. Baumgartner, Jacques Fellay, Christopher B. Forrest, D Sean Froese, Eric Giannoni, Sandra Goetze, Katrin Hofmann, Philipp Latzin, Roger Lauener, Aurelie Martin Necker, Kelly E. Ormond, Jana Pachlopnik, Patrick G. A. Pedrioli, Klara M. Posfay Barbe, Anita Rauch, Sven Schulzke, Martin Stocker, Ben D. Spycher, Effy Vayena, Tatjana Welzel, Nicola Zamboni, Julia E. Vogt, Luregn J. Schlapbach, Julia A. Bielicki, Claudia E. Kuehni","doi":"10.1101/2024.07.24.24310922","DOIUrl":"https://doi.org/10.1101/2024.07.24.24310922","url":null,"abstract":"Introduction: Children represent a large and vulnerable patient group. However, the evidence-base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is urgency to improve paediatric health care provision based on real-world evidence generation. The digital transformation is a unique opportunity to shape a data-driven, agile, learning health care system and deliver more efficient and personalized care to children and their families. The goal of SwissPedHealth is to build a sustainable and scalable infrastructure to make routine clinical data from paediatric hospitals in Switzerland interoperable, standardized, quality-controlled, and ready for observational research, quality assurance, trials, and health-policy creation. This paper describes the design, aims, and current achievements of SwissPedHealth. Methods and analysis: SwissPedHealth started in September 2022 as one of four National Data Streams co-funded by the Swiss Personalized Health Network (SPHN) and the Personalized Health and Related Technologies (PHRT). SwissPedHealth develops modular governance and regulatory strategies, and harnesses SPHN automatization procedures, in collaboration with clinical data warehouses, the Data Coordination Center, Biomedical Information Technology Network, and other SPHN institutions and funded projects. The SwissPedHealth consortium is led by a multi-site, multi-disciplinary Steering Committee incorporating patient and family representatives. The data stream contains work packages focusing on: 1) governance and implementation of standardized data collection, 2) nested projects to test the feasibility of the data stream, 3) a lighthouse project that enriches the data stream by integrating multi-omics data, aiming to improve diagnoses of rare diseases, and 4) engagement with families through patient and public involvement activities and bioethics interviews. Ethics and dissemination: The health database regulation of SwissPedHealth was approved by the ethics committee (AO_2022-00018). Research findings will be disseminated through national and international conferences, publications in peer-reviewed journals and in lay language via online media and podcasts.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"41 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141784964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-21DOI: 10.1101/2024.07.20.24310735
Javeria Saleem, Rubeena Zakar, Muhammad Salman Butt, Rameeza Kaleem, Asif Chaudhary, Jaya Chandna, David Jolliffe, Joseph Piper, Zaigham Abbas, Jonathan Tang, William Fraser, Nick Freemantle, Andrew Prendergast, Adrian Martineau
We have previously shown that high-dose vitamin D3 improved weight gain and neurodevelopmental indices in children receiving standard therapy for uncomplicated severe acute malnutrition (SAM). We conducted a randomised placebo-controlled trial to determine whether two oral doses of 200,000 international units (IU) vitamin D3 would benefit children aged 6-59 months receiving standard therapy for complicated SAM in Lahore, Pakistan. The primary outcome was mean weight-for-height or -length z-score (WHZ) at 2-month follow-up. Secondary efficacy outcomes were mean WHZ at 6-month follow-up and mean lean mass index, Malawi Development Assessment Tool (MDAT) scores and serum 25-hydroxyvitamin D (25[OH]D) concentrations at 2- and 6-month follow-up. 259 children were randomised (128 to vitamin D, 131 to placebo), of whom 251 (96.9%) contributed data to analysis of the primary outcome. At 2-month follow-up, participants allocated to vitamin D had significantly higher mean serum 25(OH)D concentrations than those allocated to placebo (adjusted mean difference [aMD] 100.0 nmol/L, 95% confidence interval [CI] 72.2 to 127.8 nmol/L). This was not associated with an inter-arm difference in mean WHZ (aMD 0.02, 95% CI -0.20 to 0.23), or in any other anthropometric or neurodevelopmental outcome assessed at 2- or 6-month follow-up overall. However, sub-group analyses revealed some evidence of greater benefit from the intervention among participants with baseline serum 25(OH)D concentrations <50 nmol/L vs. ≥50 nmol/L for the outcomes of mean WHZ at 2-month follow-up (P for interaction 0.13) and mean MDAT score at 2-month follow-up (P for interaction 0.039). The intervention was safe. In conclusion, high-dose vitamin D3 elevated mean serum 25(OH)D concentrations in children receiving standard therapy for complicated SAM in Pakistan, but did not influence any anthropometric or neurodevelopmental outcome studied overall. Further trials are needed to determine whether children with lower baseline vitamin D status benefit from this intervention. The trial was registered at ClinicalTrials.gov with the identifier NCT04270643.
我们曾证实，大剂量维生素 D3 可改善接受无并发症严重急性营养不良（SAM）标准疗法的儿童的体重增加和神经发育指数。我们进行了一项随机安慰剂对照试验，以确定两次口服 20 万国际单位（IU）维生素 D3 是否会对巴基斯坦拉合尔接受标准疗法治疗的 6-59 个月大的复杂急性营养不良儿童有益。主要疗效指标是随访 2 个月时的平均体重身高 Z 值（WHZ）。次要疗效指标是随访6个月时的平均体重-身高或身长Z值，以及随访2个月和6个月时的平均瘦体重指数、马拉维发育评估工具（MDAT）评分和血清25-羟基维生素D（25[OH]D）浓度。259名儿童接受了随机治疗（128名接受维生素D治疗，131名接受安慰剂治疗），其中251名（96.9%）为主要结果分析提供了数据。在2个月的随访中，接受维生素D治疗者的平均血清25（OH）D浓度明显高于接受安慰剂治疗者（调整后平均差[aMD]100.0 nmol/L，95%置信区间[CI]72.2至127.8 nmol/L）。这与平均 WHZ 的臂间差异（aMD 0.02，95% CI -0.20-0.23）无关，也与 2 个月或 6 个月随访时评估的任何其他人体测量或神经发育结果无关。然而，亚组分析表明，有证据表明，在2个月随访时的平均WHZ结果（交互作用P为0.13）和2个月随访时的平均MDAT得分（交互作用P为0.039）方面，基线血清25（OH）D浓度为<50 nmol/L与≥50 nmol/L的参与者从干预中获益更大。干预是安全的。总之，在巴基斯坦，高剂量维生素D3可提高接受标准疗法治疗的复杂性SAM患儿的平均血清25（OH）D浓度，但不会影响任何人体测量或神经发育的总体结果。要确定基线维生素 D 状态较低的儿童是否能从这种干预措施中获益，还需要进一步的试验。该试验已在ClinicalTrials.gov上注册，标识符为NCT04270643。
{"title":"High-dose vitamin D3 in the treatment of complicated severe acute malnutrition in Pakistan: a double-blind randomised controlled trial (ViDiSAM)","authors":"Javeria Saleem, Rubeena Zakar, Muhammad Salman Butt, Rameeza Kaleem, Asif Chaudhary, Jaya Chandna, David Jolliffe, Joseph Piper, Zaigham Abbas, Jonathan Tang, William Fraser, Nick Freemantle, Andrew Prendergast, Adrian Martineau","doi":"10.1101/2024.07.20.24310735","DOIUrl":"https://doi.org/10.1101/2024.07.20.24310735","url":null,"abstract":"We have previously shown that high-dose vitamin D3 improved weight gain and neurodevelopmental indices in children receiving standard therapy for uncomplicated severe acute malnutrition (SAM). We conducted a randomised placebo-controlled trial to determine whether two oral doses of 200,000 international units (IU) vitamin D3 would benefit children aged 6-59 months receiving standard therapy for complicated SAM in Lahore, Pakistan. The primary outcome was mean weight-for-height or -length z-score (WHZ) at 2-month follow-up. Secondary efficacy outcomes were mean WHZ at 6-month follow-up and mean lean mass index, Malawi Development Assessment Tool (MDAT) scores and serum 25-hydroxyvitamin D (25[OH]D) concentrations at 2- and 6-month follow-up. 259 children were randomised (128 to vitamin D, 131 to placebo), of whom 251 (96.9%) contributed data to analysis of the primary outcome. At 2-month follow-up, participants allocated to vitamin D had significantly higher mean serum 25(OH)D concentrations than those allocated to placebo (adjusted mean difference [aMD] 100.0 nmol/L, 95% confidence interval [CI] 72.2 to 127.8 nmol/L). This was not associated with an inter-arm difference in mean WHZ (aMD 0.02, 95% CI -0.20 to 0.23), or in any other anthropometric or neurodevelopmental outcome assessed at 2- or 6-month follow-up overall. However, sub-group analyses revealed some evidence of greater benefit from the intervention among participants with baseline serum 25(OH)D concentrations <50 nmol/L vs. ≥50 nmol/L for the outcomes of mean WHZ at 2-month follow-up (P for interaction 0.13) and mean MDAT score at 2-month follow-up (P for interaction 0.039). The intervention was safe. In conclusion, high-dose vitamin D3 elevated mean serum 25(OH)D concentrations in children receiving standard therapy for complicated SAM in Pakistan, but did not influence any anthropometric or neurodevelopmental outcome studied overall. Further trials are needed to determine whether children with lower baseline vitamin D status benefit from this intervention. The trial was registered at ClinicalTrials.gov with the identifier NCT04270643.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"162 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141744371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-21DOI: 10.1101/2024.07.20.24310120
Alexander J Northrop, Vivian Do, Nina M Flores, Lauren Blair Wilner, Perry E Sheffield, Joan A Casey
Children's risk of exposure to carbon monoxide (CO) increases after disasters, likely due to improper generator use during power outages. Here, we evaluate the impact of outages on children's CO-related emergency department (ED) visits in New York State (NYS). We leveraged power outage data spanning 2017-2020 from the NYS Department of Public Service for 1,865 power operating localities (i.e., communities) and defined all-size and large-scale power outage hours. All-size outage hours affected ≥1% of customers, and large-scale outage hours affected ≥20%. We identified CO poisoning using diagnostic codes among those aged <18 between 2017 and 2020 using the Statewide Planning and Research Cooperative System (SPARCS), an all-payer reporting system in NYS. We linked community power outage exposure to patients using the population-weighted centroid of their block group of residence. We estimated the impact of power outages on CO poisoning using a time-stratified case-crossover study design with conditional logistic regression, controlling for daily relative humidity, mean temperature, and total precipitation. Analyses were stratified by urban and rural communities. From 2017-2020, there were 917 pediatric CO poisoning ED visits in NYS. Most cases (83%) occurred in urban region of the state. We observed an association statewide between all-size and large-scale outages and CO ED visits on the index day and the following two days before a return to baseline on lag day 3. Four hours without power increased the odds of a pediatric CO poisoning ED visit by ≥50% for small-scale and ≥150% for large-scale outages, and associations were stronger in urban versus rural areas. While CO poisoning is a relatively rare cause of pediatric ED visits in NYS, it can be deadly and is also preventable. Expanded analyses of the health impacts of outages and advocacy for reliable energy access are needed to support children's health in a changing climate
{"title":"Power Outages: An Underappreciated Risk Factor for Children's Carbon Monoxide Poisoning","authors":"Alexander J Northrop, Vivian Do, Nina M Flores, Lauren Blair Wilner, Perry E Sheffield, Joan A Casey","doi":"10.1101/2024.07.20.24310120","DOIUrl":"https://doi.org/10.1101/2024.07.20.24310120","url":null,"abstract":"Children's risk of exposure to carbon monoxide (CO) increases after disasters, likely due to improper generator use during power outages. Here, we evaluate the impact of outages on children's CO-related emergency department (ED) visits in New York State (NYS). We leveraged power outage data spanning 2017-2020 from the NYS Department of Public Service for 1,865 power operating localities (i.e., communities) and defined all-size and large-scale power outage hours. All-size outage hours affected ≥1% of customers, and large-scale outage hours affected ≥20%. We identified CO poisoning using diagnostic codes among those aged <18 between 2017 and 2020 using the Statewide Planning and Research Cooperative System (SPARCS), an all-payer reporting system in NYS. We linked community power outage exposure to patients using the population-weighted centroid of their block group of residence. We estimated the impact of power outages on CO poisoning using a time-stratified case-crossover study design with conditional logistic regression, controlling for daily relative humidity, mean temperature, and total precipitation. Analyses were stratified by urban and rural communities. From 2017-2020, there were 917 pediatric CO poisoning ED visits in NYS. Most cases (83%) occurred in urban region of the state. We observed an association statewide between all-size and large-scale outages and CO ED visits on the index day and the following two days before a return to baseline on lag day 3. Four hours without power increased the odds of a pediatric CO poisoning ED visit by ≥50% for small-scale and ≥150% for large-scale outages, and associations were stronger in urban versus rural areas. While CO poisoning is a relatively rare cause of pediatric ED visits in NYS, it can be deadly and is also preventable. Expanded analyses of the health impacts of outages and advocacy for reliable energy access are needed to support children's health in a changing climate","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141744156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-12DOI: 10.1101/2024.07.11.24310310
Ho-Chang Kuo, Ming-Chih Lin, Chung-Chih Kao, Ken-Pen Weng, Yun Ding, Chih-Jung Chen, Sheng-Ling Jan, Kuang-Jen Chien, Chun-Hsiang Ko, Chien-Yu Lin, Wei-Te Lei, Ling-sai Chang, Mindy Ming-Huey Guo, Kuender D. Yang, Karl G Sylvester, Zhi Han, John C Whitin, Lu Tian, Henry Chubb, Scott R Ceresnak, Doff B. McElhinney, Harvey J Cohen, Xuefeng B. Ling
Background: Though Aspirin and intravenous immunoglobulin (IVIG) remain the standard treatments for Kawasaki Disease (KD) to minimize coronary artery damage, the duration and dosage of aspirin are inconsistent across hospitals. However, the lack of multi-center randomized trials prevents definitive answers to the impact of high-dose aspirin. Methods This clinical trial was structured as a prospective, evaluator-blinded, multi-center randomized controlled trial with two parallel arms, aiming to assess the effectiveness of IVIG as a standalone primary therapy of KD in comparison to the combination of IVIG with high-dose aspirin therapy. KD patients were enrolled between September, 2016 and August, 2019. A final cohort of 134 patients were randomly assigned to the standard and test groups with 69 and 65 patients, respectively. The Standard group received IVIG (2 g/kg) along with aspirin (80-100 mg/kg/day) until fever subsided for 48 hours. The test group received IVIG (2 g/kg) alone. Following the initial treatment, both groups received a daily aspirin dose (3-5 mg/kg) for six weeks. The primary outcome measure was the occurrence of coronary artery lesions (CAL) at the 6-8 weeks mark. The secondary outcome is IVIG resistance. Results The overall rate of CAL in test group decreased from 10.8% at diagnosis to 1.5% and 3.1% at 6 weeks and 6 months, respectively. The CAL rate of standard group declined from 13.0% to 2.9% and 1.4%, with no statistically significant difference (P>0.1) in the frequency of CAL between the two groups. Furthermore, no statistically significant differences were found for treatment (P>0.1) and prevention (P>0.1) effect between the two groups. Conclusions: This marks the first prospective multi-center randomized controlled trial comparing the standard treatment of KD using IVIG plus high-dose aspirin against IVIG alone. Our analysis indicates that addition of high-dose aspirin during initial IVIG treatment is neither statistically significant nor clinically meaningful for CAL reduction. Registration URL: http://www.clinicaltrials.gov; identifier: NCT02951234
{"title":"EFFICACY OF INTRAVENOUS IMMUNOGLOBULIN ALONE ON CORONARY ARTERY LESION REDUCTION IN KAWASAKI DISEASE","authors":"Ho-Chang Kuo, Ming-Chih Lin, Chung-Chih Kao, Ken-Pen Weng, Yun Ding, Chih-Jung Chen, Sheng-Ling Jan, Kuang-Jen Chien, Chun-Hsiang Ko, Chien-Yu Lin, Wei-Te Lei, Ling-sai Chang, Mindy Ming-Huey Guo, Kuender D. Yang, Karl G Sylvester, Zhi Han, John C Whitin, Lu Tian, Henry Chubb, Scott R Ceresnak, Doff B. McElhinney, Harvey J Cohen, Xuefeng B. Ling","doi":"10.1101/2024.07.11.24310310","DOIUrl":"https://doi.org/10.1101/2024.07.11.24310310","url":null,"abstract":"Background: Though Aspirin and intravenous immunoglobulin (IVIG) remain the standard treatments for Kawasaki Disease (KD) to minimize coronary artery damage, the duration and dosage of aspirin are inconsistent across hospitals. However, the lack of multi-center randomized trials prevents definitive answers to the impact of high-dose aspirin. Methods This clinical trial was structured as a prospective, evaluator-blinded, multi-center randomized controlled trial with two parallel arms, aiming to assess the effectiveness of IVIG as a standalone primary therapy of KD in comparison to the combination of IVIG with high-dose aspirin therapy. KD patients were enrolled between September, 2016 and August, 2019. A final cohort of 134 patients were randomly assigned to the standard and test groups with 69 and 65 patients, respectively. The Standard group received IVIG (2 g/kg) along with aspirin (80-100 mg/kg/day) until fever subsided for 48 hours. The test group received IVIG (2 g/kg) alone. Following the initial treatment, both groups received a daily aspirin dose (3-5 mg/kg) for six weeks. The primary outcome measure was the occurrence of coronary artery lesions (CAL) at the 6-8 weeks mark. The secondary outcome is IVIG resistance. Results The overall rate of CAL in test group decreased from 10.8% at diagnosis to 1.5% and 3.1% at 6 weeks and 6 months, respectively. The CAL rate of standard group declined from 13.0% to 2.9% and 1.4%, with no statistically significant difference (P>0.1) in the frequency of CAL between the two groups. Furthermore, no statistically significant differences were found for treatment (P>0.1) and prevention (P>0.1) effect between the two groups. Conclusions: This marks the first prospective multi-center randomized controlled trial comparing the standard treatment of KD using IVIG plus high-dose aspirin against IVIG alone. Our analysis indicates that addition of high-dose aspirin during initial IVIG treatment is neither statistically significant nor clinically meaningful for CAL reduction.\u0000Registration URL: http://www.clinicaltrials.gov; identifier: NCT02951234","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141608222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-10DOI: 10.1101/2024.07.10.24310206
Nicole Tartaglia, Shanlee Davis, Susan Howell, Samantha Bothwell, Kayla Nocon, Karen Kowal, Chijioke Ikomi, Andrew Keene, Victoria Reynolds, Agnethe Berglund, Judith Ross
BACKGROUND AND OBJECTIVE: Sex chromosome trisomies (SCT), including XXY, XYY, and XXX syndromes, have been historically underdiagnosed. Noninvasive prenatal cell-free DNA screening has significantly increased identification of these conditions, leading to a need for pediatric care for a growing population of newborns with SCT. Our goal was to analyze and compare perinatal features, medical diagnoses, and physical features in infants with prenatal identification of SCT conditions through the first year of life. METHODS: The eXtraordinarY Babies Study is an ongoing, prospective natural history study of prenatally identified children with SCT conducted by interdisciplinary teams in Colorado and Delaware. Participants were enrolled prior to 12 months of age and had pregnancy, birth, medical histories, and physical exams completed by board-certified pediatricians at 2, 6, and/or 12-month visits. Descriptive statistics were followed by comparisons between SCT groups using t-tests or ANOVA, Fisher exact, and correlations between medical features with alpha of 0.05. Relative risks were calculated compared to general population rates. RESULTS: 327 infants were included in the analysis (XXY=195, XXX=79, XYY=53). Major congenital anomalies were rare (1.7%). Relative risk compared to general population was elevated for breastfeeding difficulties (51.7%;RR 2.7), positional torticollis (28.2%;RR 7.2), eczema (48.0%;RR 3.5), food allergies (19.3%;RR 2.4), constipation requiring intervention (33.9%;RR 7.6), small cardiac septal defects (7.7%;RR 17.2), and structural renal abnormalities (4.4%;RR 9.7). Inpatient hospitalization was required for 12.4%, with 59.5% of hospitalizations attributable to respiratory infections. DISCUSSION: These findings of medical conditions with a higher prevalence can inform anticipatory guidance and medical management for pediatricians caring for infants with SCT.
{"title":"Medical Findings in Infants Prenatally Identified with Sex Chromosome Trisomy in Year One of Life","authors":"Nicole Tartaglia, Shanlee Davis, Susan Howell, Samantha Bothwell, Kayla Nocon, Karen Kowal, Chijioke Ikomi, Andrew Keene, Victoria Reynolds, Agnethe Berglund, Judith Ross","doi":"10.1101/2024.07.10.24310206","DOIUrl":"https://doi.org/10.1101/2024.07.10.24310206","url":null,"abstract":"BACKGROUND AND OBJECTIVE: Sex chromosome trisomies (SCT), including XXY, XYY, and XXX syndromes, have been historically underdiagnosed. Noninvasive prenatal cell-free DNA screening has significantly increased identification of these conditions, leading to a need for pediatric care for a growing population of newborns with SCT. Our goal was to analyze and compare perinatal features, medical diagnoses, and physical features in infants with prenatal identification of SCT conditions through the first year of life. METHODS: The eXtraordinarY Babies Study is an ongoing, prospective natural history study of prenatally identified children with SCT conducted by interdisciplinary teams in Colorado and Delaware. Participants were enrolled prior to 12 months of age and had pregnancy, birth, medical histories, and physical exams completed by board-certified pediatricians at 2, 6, and/or 12-month visits. Descriptive statistics were followed by comparisons between SCT groups using t-tests or ANOVA, Fisher exact, and correlations between medical features with alpha of 0.05. Relative risks were calculated compared to general population rates. RESULTS: 327 infants were included in the analysis (XXY=195, XXX=79, XYY=53). Major congenital anomalies were rare (1.7%). Relative risk compared to general population was elevated for breastfeeding difficulties (51.7%;RR 2.7), positional torticollis (28.2%;RR 7.2), eczema (48.0%;RR 3.5), food allergies (19.3%;RR 2.4), constipation requiring intervention (33.9%;RR 7.6), small cardiac septal defects (7.7%;RR 17.2), and structural renal abnormalities (4.4%;RR 9.7). Inpatient hospitalization was required for 12.4%, with 59.5% of hospitalizations attributable to respiratory infections. DISCUSSION: These findings of medical conditions with a higher prevalence can inform anticipatory guidance and medical management for pediatricians caring for infants with SCT.","PeriodicalId":501549,"journal":{"name":"medRxiv - Pediatrics","volume":"2018 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141585790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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