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

项目摘要 多不饱和脂肪酸(PUFA)对正常代谢和神经发育至关重要， 合成多不饱和脂肪酸的前体需要通过饮食或饮食获得 补充。带有额外X或Y染色体的个体，称为性 染色体三体(SCT)情况下，易患代谢受损和 神经发育，尽管机制尚不清楚，也没有可用的治疗方法。 最近，我们发现与对照组相比，SCA队列中的血浆多不饱和脂肪酸浓度更低。 在SCA中，饮食、补充剂的使用和多不饱和脂肪酸的摄入量还没有具体评估。这个 非凡婴儿研究(R01HD091251)是一项纵向的健康和自然历史研究 &gt；200名患有SCT的产前确诊婴儿的神经发育研究 确定导致变异性范围的风险和保护性因素 这些个体的神经发育结果。在这本《非凡》的增刊中 婴儿学习，我们将严格量化多不饱和脂肪酸和其他FA的摄入量，通过饮食和 通过标准化的家长面谈补充(目标1)。然后，我们将评估 多不饱和脂肪酸外源性摄入量与血药浓度的关系 两个时间点储存样本的代谢组学分析(目标2)。最后，我们将探讨 多不饱和脂肪酸摄入量与研究中收集的直接神经发育评估的关系 评估认知、语言、运动和社会发展的访问(目标3)。结果： 这些补充目标将被添加到我们旨在实现的综合模型的开发中 在理解表型变异的遗传和环境预测因子方面 产前确诊患有SCA的儿童。

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.