# Genetic Liability for Autism and Infant Brain and Behavioral Development

> **NIH NIH K01** · UNIV OF NORTH CAROLINA CHAPEL HILL · 2022 · $172,793

## Abstract

PROJECT ABSTRACT
 CAREER GOAL: My long-term goal is to build a program of research integrating neuroscience,
neuroimaging, behavioral analysis, and genetics to study individual factors that shape vulnerability for
neurodevelopmental disorders and variability in phenotypic expression. Ultimately, I wish to improve outcomes
in children with neurodevelopmental disorders, with a focus on autism spectrum disorder (ASD), by contributing
work to the field that informs the timing and nature of early interventions through elucidation of pathogenic
mechanisms and their developmental time course.
 RESEARCH PROJECT: ASD is highly heritable and the majority of ASD cases are due to inherited,
common polygenic variation. Prospective studies following infant-siblings of older children with ASD, who are at
an increased likelihood of developing ASD themselves, have detailed aberrant brain and behavioral trajectories
beginning as early as 6 months of age in both infants that go on to develop ASD (20%) and 30% of the at-risk
infants who do not develop ASD. This suggests that genetic liability for ASD likely influences brain and behavioral
development in a graded fashion; however, to date, there have been no studies relating quantifiable genetic
liability for ASD to infant development. Given that the first year of life marks a highly plastic period of brain
development that precedes the emergence of the diagnostic features of ASD, determining mechanisms of action
and targeting interventions to this developmental period could yield optimal outcomes. The goal of the current
project is to determine if brain and behavioral development in infancy and toddlerhood are impacted by genetic
liability for ASD, as measured by inherited quantitative autistic traits (QAT) in parents and older probands and
infant polygenic risk scores (PRS) reflecting cumulative risk genes associated with ASD. Additionally, the nature
of associations between brain and behavioral intermediate ASD phenotypes from 6 months to 24 months of age
will be characterized. Specific Aims: (1) To determine if genetic liability for ASD is associated with infant brain
and behavioral development using both (1a) QAT in first-degree relatives and (1b) PRS, and (2) To define
associations between intermediate brain and behavioral phenotypes across early development.
 CAREER DEVELOPMENT: This K01 award will provide me with the necessary training in the areas of
genetic epidemiology and molecular genetics that I require before transitioning to an independent career.
Mentorship: Co-mentors: Dr. Joseph Piven (Dept. of Psychiatry, UNC) and Dr. John Constantino (Dept. of
Psychiatry, Washington University). Advisors: Dr. Jason Stein (Genetics, UNC), Dr. Danielle Fallin
(Epidemiology, Johns Hopkins), Dr. Cynthia Powell (Pediatrics, UNC), and Dr. Kinh Truong (Biostatistics, UNC).

## Key facts

- **NIH application ID:** 10378752
- **Project number:** 5K01MH122779-03
- **Recipient organization:** UNIV OF NORTH CAROLINA CHAPEL HILL
- **Principal Investigator:** Jessica Bullins Girault
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $172,793
- **Award type:** 5
- **Project period:** 2020-04-01 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10378752

## Citation

> US National Institutes of Health, RePORTER application 10378752, Genetic Liability for Autism and Infant Brain and Behavioral Development (5K01MH122779-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10378752. Licensed CC0.

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