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）对于正常新陈代谢和神经发育至关重要， 而PUFA合成的前体需要通过饮食或饮食获得 补充。具有额外 X 或 Y 染色体的个体，称为性别 染色体三体（SCT）条件，容易受到代谢受损和 神经发育，尽管机制尚不清楚并且没有可用的治疗方法。 最近，我们发现 SCA 队列中的血浆 PUFA 浓度低于对照组。 SCA 中尚未具体评估饮食、补充剂的使用和 PUFA 摄入量。这 非凡婴儿研究 (R01HD091251) 是一项健康和健康的纵向自然史 通过 SCT 对超过 200 名产前鉴定的婴儿进行神经发育研究，总体目标是 确定导致变异范围的风险和保护因素 这些个体的神经发育结果。在这份非凡的补充中 婴儿研究中，我们将通过饮食和饮食严格量化 PUFA 和其他 FA 的摄入量 通过标准化家长访谈进行补充（目标 1）。然后我们将评估 使用靶向方法研究外源性 PUFA 摄入量与血浆浓度之间的关系 对两个时间点存储的样品进行代谢组学分析（目标 2）。最后，我们探索 研究中收集的 PUFA 摄入量与直接神经发育评估的关系 衡量认知、语言、运动和社交发展的访问（目标 3）。结果 这些补充目标将添加到我们的综合模型的开发中 了解表型变异的遗传和环境预测因素 产前被诊断患有 SCA 的儿童。