# The Infant Down Syndrome Brain and Behavior Study

> **NIH NIH U01** · WASHINGTON UNIVERSITY · 2024 · $2,927,457

## Abstract

ABSTRACT
 Down syndrome (DS), the most common genetic cause of intellectual disability, accounts for ~30% of all
moderate-to-severe IDD cases, with ~5,500 new individuals diagnosed with DS each year in the United States.
DS is associated with varying degrees of cognitive impairment from infancy onward, yet progress has been very
limited in understanding the relationships between neurodevelopment in DS and deficits in function. While clear
structural brain differences and altered functional connectivity have been observed in DS at older ages, limited
knowledge of infant brain development in DS hampers understanding of the relationship between brain
differences and early delays, as well as the impact of disrupted development of neurocircuitry on later function.
Infant brain imaging studies are needed to clarify mechanisms that could guide novel interventions during a
highly plastic stage of neurodevelopment and to identify biomarkers that could inform the personalization of DS
treatment and enhanced outcomes. In-depth characterization of DS-associated developmental differences in
neural circuit structure and function is also key to evaluating a range of emerging pharmacologic therapies and
genetic modulators that show promise for improving long-term function.
 To address these gaps, our team proposes to complete deep phenotyping and neuroimaging in a DS
infant cohort in response to RFA-OD-24-003, which articulates the plan for multiple sites to collaboratively
assemble a lifespan cohort of individuals with DS. Here we propose to leverage the Infant Brain Imaging Study
Network (IBIS), a multisite, multidisciplinary team with >15 years’ experience in infant recruitment and collection
of longitudinal behavioral and neuroimaging data in typically developing infants and infants with Autism spectrum
disorder (ASD), DS, and Fragile X Syndrome. Our specific aims are: 1) To collect multimodal neuroimaging,
including structural and functional MRI, as well as EEG, in a cohort of 100 infants with DS and 50 typically
developing controls at ages 6, 12, and 24 months; 2) to perform concurrent, longitudinal deep phenotyping on
these infants in key developmental domains of cognition and adaptive function, and 3) to collect data
characterizing variation in early social communication in these infants that would advance early risk assessment
for ASD, which occurs in ~15% of children with DS. Our team will leverage IBIS’ expertise in ASD-relevant
phenotyping to include standardized clinical measures as well as dimensional research measures allowing more
refined characterization of social attention and language. Data will be collected on medical comorbidities,
sociodemographic information, and family environmental factors, along with biospecimens for future genetic
analyses. Data will be accessible to the scientific community and allow novel analyses to characterize the nature
and timing of altered neurodevelopment in DS, as well as establish a richly phenotyped cohort ...

## Key facts

- **NIH application ID:** 11001809
- **Project number:** 1U01HD116463-01
- **Recipient organization:** WASHINGTON UNIVERSITY
- **Principal Investigator:** Heather Cody Hazlett
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $2,927,457
- **Award type:** 1
- **Project period:** 2024-09-20 → 2029-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/11001809

## Citation

> US National Institutes of Health, RePORTER application 11001809, The Infant Down Syndrome Brain and Behavior Study (1U01HD116463-01). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/11001809. Licensed CC0.

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