# A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome

> **NIH NIH R01** · WASHINGTON UNIVERSITY · 2024 · $2,350,586

## Abstract

Abstract
Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with varying
degrees of cognitive and behavioral impairments. Pharmacologic therapies and genetic modulators are
emerging which, if administered early in conjunction with traditional therapies, show promise for improving
developmental outcomes in children with DS. However, the stark absence of early neurodevelopment
knowledge in DS hampers these efforts. The main goal of this proposal is to develop biomarkers as future
targets for specific therapies based on careful characterization of early aberrant neurodevelopmental patterns.
This study will be a combined effort with WU as the coordinating center and six other research groups: UNC,
UW, CHOP, MNI, NYU, and University of Minnesota. These groups comprise the ACE-IBIS (Autism Center of
Excellence Infant Brain Imaging Study) network, a well-established and experienced group that has been
productively collaborating for 8 years on MRI imaging and behavioral characterization of infants at high risk for
autism, healthy typical infants (TYP), and infants with Fragile X. The aims of this proposal are: 1) Define the
longitudinal characteristics of early brain development in infants (3 to 24 months) with DS in comparison to
TYP infants and infants with other developmental disabilities (ASD and Fragile X) using three different types of
neuroimaging (MRI, DTI, rsfMRI); 2) Develop predictive models for developmental outcomes in infants with DS
based on longitudinal structural or functional MRI characteristics; and 3) Characterize brain-behavior correlates
with coordinated multimodal imaging in infancy characterizing the interrelationship between longitudinal
network imaging parameters and cognitive, behavioral and neurodevelopmental outcomes using sophisticated
multivariate support vector machine (SVM) analytic strategies. 120 infants with DS and 40 TYP control infants
will be followed longitudinally from 3 to 24 months. MRI scans will be obtained during natural sleep and a
series of well-validated developmental and behavioral assessments will be completed at each visit. This project
will be the first to define the nature and timing of alterations in brain development in infants with DS. The
proposed project addresses several key research recommendations from the “NICHD 2014-The NIH Research
Plan on Down Syndrome.” The study aims match the recommendation for the quantitative characterization
based on imaging of early brain development and the relationship of cognitive, behavioral and social
development to early aberrant neurodevelopment in DS. This project will also address recommendations for
investigation of comorbid ASD in DS, which could be as high as 5-10%. The IBIS network is uniquely qualified
to examine early neurodevelopmental patterns, utilizing the ASD, TYP and FraX infant data sets to better
characterize and examine specificity of DS early developmental patterns including ASD qualities and
impairme...

## Key facts

- **NIH application ID:** 10915141
- **Project number:** 3R01HD088125-05S1
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Natasha Marrus
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $2,350,586
- **Award type:** 3
- **Project period:** 2018-09-20 → 2025-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10915141

## Citation

> US National Institutes of Health, RePORTER application 10915141, A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome (3R01HD088125-05S1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10915141. Licensed CC0.

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