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

> **NIH NIH R01** · WASHINGTON UNIVERSITY · 2021 · $2,360,348

## Abstract

Longitudinal MRI Characterization of Very Early Brain Development
 in Infants with Down Syndrome
Project Summary/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 be...

## Key facts

- **NIH application ID:** 10247777
- **Project number:** 5R01HD088125-04
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Kelly N Botteron
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $2,360,348
- **Award type:** 5
- **Project period:** 2018-09-20 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10247777

## Citation

> US National Institutes of Health, RePORTER application 10247777, A Longitudinal MRI Study Characterizing Very Early Brain Development in Infants with Down Syndrome (5R01HD088125-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10247777. Licensed CC0.

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