Population Health in Pediatric Sex Chromosome Aneuploidies

儿科性染色体非整倍体的人口健康

基本信息

批准号：
10041415
负责人：
Shanlee Davis
金额：
$ 7.78万
依托单位：
UNIVERSITY OF COLORADO DENVER
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-09-01 至 2022-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10041415
关键词：
Accident and Emergency department Adolescent Adult Affect Age Algorithms Caring Child Child Care Child Health Child health care Childhood Clinical Clinical Data Clinical Practice Guideline Clinical Research Clinical Trials Code Comparative Effectiveness Research Counseling Data Data Element Data Sources Development Diagnosis Diagnostic Disease Equation Estradiol Ethnic Origin Future Genetic Counseling Goals Gonadal Steroid Hormones Health system Healthcare Systems High Prevalence Image Individual Infant Klinefelter&apos s Syndrome Laboratories Learning Masks Medical Mental Health Methodology Methods Modeling Morbidity - disease rate Neonatal Screening Oral Other Genetics Outcome Outpatients Parents Patients Pharmaceutical Preparations Population Population Study Predictive Value Preparation Publishing Race Rare Diseases Readiness Recommendation Research Resources Risk Route Sample Size Site Source Syndrome Systematized Nomenclature of Medicine Testing Time Trisomy X syndrome Turner&apos s Syndrome Visit Work X Chromosome XYY Karyotype Y Chromosome Youth base body system cardiometabolism case control cell free fetal DNA clinical care clinical development clinical practice comorbidity comparative effectiveness study computable phenotypes evidence base experience family support follow-up girls health care service utilization hospitalization rates improved novel patient oriented phenotyping algorithm physical conditioning population based population health prenatal prenatal testing prospective psychologic screening sex sex chromosome aneuploidy statistics

项目摘要

PROJECT SUMMARY / ABSTRACT One in 400 infants have an atypical number of X and Y chromosomes, collectively known as sex chromosome aneuploidies (SCAs). Despite the number of individuals affected by SCAs, they often go unrecognized and are vastly understudied, particularly in children. With recent changes in non-invasive prenatal testing recommendations, more infants with SCAs are being diagnosed. However, our ability to provide accurate counseling to parents or guidelines for clinical practice is limited. This project utilizes data from a large network of major children’s healthcare systems across the US (PEDSnet) to study >4,000 youth with SCAs. In Aim 1 we will quantify co-existing mental and physical health diagnoses and healthcare utilization in youth with Turner, Klinefelter (XXY), Trisomy X, and XYY syndromes compared to the general pediatric population. In Aim 2 we will describe current clinical care practices that children with these conditions are receiving in the US. Finally, in Aim 3 we will prepare for a future comparative effectiveness study of estradiol in girls with Turner syndrome by developing and validating an algorithm using multiple data elements to establish an accurate computable phenotype. Through this novel, population-based approach to study youth with SCAs, we will have an immediate impact on genetic counseling for patients and families, support and inform the development of clinical practice guidelines, and prepare for future high-impact studies for infants, children, and adolescents with these conditions. In addition to advances for SCA research, the data source and methodologies from this project may be translatable to other genetic syndromes and pediatric rare diseases.

项目摘要 /摘要四分之一的婴儿中有一个具有非典型数量的X和Y染色体，统称为性染色体非整倍体（SCAS）。尽管受SCA影响的人数数量，但他们经常无法认可，并且众所周知，特别是在儿童中。随着非侵入性产前测试的最新变化建议，正在诊断出更多具有SCA的基础架构。但是，我们提供准确的能力向父母或临床实践指南的咨询是有限的。该项目利用大型网络的数据美国主要儿童医疗保健系统（PEDSNET），研究> 4,000名SCA的青年。在目标1中我们将量化与年轻人的共存的身心健康诊断和医疗保健利用与一般儿科种群相比，特纳，克莱尔费尔（Klinefelter（xxy），三体X和XYY综合征）。目标 2我们将描述当前有这些疾病儿童在美国接受的临床护理实践。最后，在AIM 3中，我们将为Turner的女孩中的雌二醇对未来的比较有效性研究做准备综合征通过使用多个数据元素来开发和验证算法以建立准确的可计算表型。通过这种小说，基于人群研究的SCA研究青年的方法，我们将拥有对患者和家庭的遗传咨询的直接影响，支持并告知临床实践指南，并为婴儿，儿童和青少年的未来高影响研究做准备在这些条件下。除了SCA研究的进步外，数据源和方法项目可能可以翻译成其他遗传综合征和小儿稀有疾病。