The eXtraordinary Babies Study: Natural History of Health and Neurodevelopment In Infants and Young children with Sex Chromosome Trisomy

非凡婴儿研究：性染色体三体性婴幼儿健康和神经发育的自然史

• 批准号: 10329062
• 负责人: Nicole Renee Tartaglia
• 金额: $ 15.55万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-04-20 至 2022-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10329062
• 关键词: Acids; Address; Age; Age-Months; Apraxias; Attentional deficit; Biological; Body mass index; Breast Feeding; Child; Cognitive; Cohort Studies; Complement; Confounding Factors (Epidemiology); Data; Development; Developmental Delay Disorders; Diet; Dietary Assessment; Dietary Fatty Acid; Dietary Supplementation; Dietary intake; Duct (organ) structure; Fasting; Fatty Acids; Genetic; Genetic Diseases; Goals; Health; Heterogeneity; Hour; Impairment; Individual; Infant; Infant Development; Information Systems; Infrastructure; Intake; Intervention; Interview; Knowledge; Language; Learning Disabilities; Lipids; Measures; Mediating; Medical History; Metabolic dysfunction; Metabolism; Micronutrients; Modeling; Motor; N-3 polyunsaturated fatty acid; Natural History; Neurodevelopmental Disability; Nursery Schools; Nutrient; Outcome; Parents; Participant; Phenotype; Pilot Projects; Plasma; Polyunsaturated Fatty Acids; Population; Populations at Risk; Predisposition; Prenatal care; Prognosis; Protocols documentation; Reporting; Research Priority; Resources; Risk; Risk Factors; Role; Sampling; Saturated Fatty Acids; Sex Chromosomes; Social Development; Standardization; Statistical Models; Supplementation; Surveys; Technology; Teenagers; Testing; Time; Trisomy; Visit; Vulnerable Populations; X Chromosome; Y Chromosome; autism spectrum disorder; cohort; dietary; dietary supplements; evidence base; falls; metabolomics; neurodevelopment; nutrition; premature; prenatal; protective factors; sample collection; sex; systems research

PROJECT ABSTRACT Polyunsaturated fatty acids (PUFA) are critical for normal metabolism and neurodevelopment, and the precursors for PUFA synthesis need to be obtained through diet or dietary supplementation. Individuals with an additional X or Y chromosome, referred to as sex chromosome trisomy (SCT) conditions, are susceptible to both impaired metabolism and neurodevelopment, although mechanisms are unknown and no treatments are available. Recently, we found lower plasma PUFA concentrations in an SCA cohort compared to controls. Diet, supplement use, and PUFA intake specifically has not been assessed in SCA. The eXtraordinarY Babies Study (R01HD091251) is a longitudinal natural history of health and neurodevelopment in >200 prenatally identified infants with SCT with the overarching goal to identify risk and protective factors contributing to the spectrum of variability in neurodevelopmental outcomes in these individuals. In this supplement to the eXtraordinarY Babies Study, we will rigorously quantify intake of PUFA and other FA through diet and supplements through standardized parental interviews (Aim 1). We will then assess the relationship between exogenous intake of PUFA with plasma concentrations using targeted metabolomics analysis of stored samples at two time points (Aim 2). Finally, we explore the relationship of PUFA intake to direct neurodevelopmental assessments being collected at study visits that measure cognitive, language, motor, and social development (Aim 3). Results of these supplemental aims will be added to the development of our comprehensive model aimed at understanding the genetic and environmental predictors of phenotypic variability among children prenatally identified to have SCA.

项目摘要 多不饱和脂肪酸（PUFA）对于正常的代谢和神经发育至关重要， PUFA合成的前体需要通过饮食或饮食来获得 补充。具有额外X或Y染色体的个人，称为性别 染色体三体（SCT）条件，易受代谢受损和 神经发育，尽管机制是未知的，并且没有治疗。 最近，我们发现与对照组相比，SCA队列中的血浆PUFA浓度较低。 在SCA中尚未评估饮食，补充使用和PUFA摄入量。这 非凡的婴儿研究（R01HD091251）是健康的纵向自然史和 在> 200个产前鉴定出具有总体目标的SCT的婴儿的神经发育 确定有助于变异性的风险和保护因素 这些人的神经发育结果。在这个非凡的补充中 婴儿研究，我们将通过饮食严格量化PUFA和其他FA的摄入量 通过标准化父母访谈的补充（AIM 1）。然后，我们将评估 使用靶向的PUFA外源摄入PUFA与血浆浓度之间的关系 在两个时间点对存储的样品的代谢组学分析（AIM 2）。最后，我们探索 PUFA摄入与指导研究中收集神经发育评估的关系 访问那些衡量认知，语言，运动和社会发展的访问（AIM 3）。结果 这些补充目标将被添加到我们针对的全面模型的开发中 了解表型变异性的遗传和环境预测因子 儿童在产前确定患有SCA。