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

> **NIH NIH R01** · UNIVERSITY OF COLORADO DENVER · 2021 · $155,500

## Abstract

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.

## Key facts

- **NIH application ID:** 10329062
- **Project number:** 3R01HD091251-04S1
- **Recipient organization:** UNIVERSITY OF COLORADO DENVER
- **Principal Investigator:** Nicole Renee Tartaglia
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $155,500
- **Award type:** 3
- **Project period:** 2021-04-20 → 2022-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10329062

## Citation

> US National Institutes of Health, RePORTER application 10329062, The eXtraordinary Babies Study: Natural History of Health and Neurodevelopment In  Infants and Young children with Sex  Chromosome Trisomy (3R01HD091251-04S1). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10329062. Licensed CC0.

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