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.

项目概要/摘要每 400 名婴儿中就有 1 人的 X 和 Y 染色体数量不典型，统称为性染色体尽管受 SCA 影响的个体数量很多，但它们常常未被识别并被忽视。对此的研究还很有限，特别是随着最近无创产前检测的变化。尽管我们有能力提供准确的建议，但仍有更多患有 SCA 的婴儿被诊断出来。向家长提供的咨询或临床实践指南是有限的。该项目利用来自大型网络的数据。目标 1：美国主要儿童医疗保健系统 (PEDSnet) 对超过 4,000 名患有 SCA 的青少年进行了研究。我们将量化青少年共存的心理和身体健康诊断以及医疗保健利用 Turner、Klinefelter (XXY)、X 三体综合征和 XYY 综合征与一般儿科人群的比较。 2 我们将描述患有这些疾病的儿童在美国接受的当前临床护理实践。最后，在目标 3 中，我们将为未来的特纳女孩雌二醇有效性比较研究做准备通过开发和验证使用多个数据元素的算法来建立准确的综合症通过这种新颖的、基于人群的方法来研究具有 SCA 的青少年，我们将获得对患者和家庭的遗传咨询产生直接影响，支持并为遗传咨询的发展提供信息临床实践指南，并为未来针对婴儿、儿童和青少年的高影响力研究做好准备有了这些条件，除了 SCA 研究的进展外，数据来源和方法也由此而来。该项目可能会转化为其他遗传综合征和儿科罕见疾病。