# Perinatal Experience and Epigenetic Change in Autism: Discovering Modifiable Pathways for Intervention

> **NIH NIH R01** · UNIVERSITY OF IOWA · 2024 · $648,656

## Abstract

ABSTRACT. Autism spectrum disorder (ASD) is one of the most common neurodevelopmental disabilities,
adversely affecting an increasing number of families worldwide. Although its etiology is strongly linked to
genetic factors, perinatal experience, including prenatal stress and post-natal social experience, may also
contribute to deficits in social communication in ASD, potentially via epigenetic mechanisms. For example, the
oxytocin receptor gene (OXTR) is epigenetically altered by early social experience, plays a crucial role in
mammalian social and cognitive development, and is associated with both genetic and epigenetic risk for ASD.
However, the relationship between perinatal experience and epigenetic change in ASD is unclear. Our central
hypothesis is that prenatal stress and early social experience predicts epigenetic changes in specific genes,
which are associated with social communication deficits in ASD. To achieve our overall goal of discovering
modifiable pathways for intervention in children at risk for ASD, we will recruit over 7,200 pregnant women to
use an innovative smartphone application, BabySteps, to collect prospective data from the 3rd trimester of
pregnancy until 30 months post-delivery. Between ages 18 to 27 months, BabySteps will be used to screen for
symptoms of ASD or developmental delay (DD) in the offspring, which will trigger a full diagnostic assessment
at the Center for Disabilities and Development. Children with a range of social communication deficits
(including those diagnosed with ASD or non-ASD DD [n=200]) will be compared with typically developing
children (TD; n=200) who are matched on race, sex, and socioeconomic status. We will examine 1) differences
in DNA methylation (DNAm), and change over time, in 27 specific ASD-associated loci and 3 OXTR loci, and
2) differences in biologic age acceleration using epigenetic clock algorithms, as a function of age, perinatal
experience, and social communication outcomes. We will compare DNAm from stored newborn dried blood
spots to samples collected around the time of diagnosis. We will calculate polygenic risk scores for social
communication, repetitive behavior, and ASD, and assess the relative polygenic and epigenetic risk. The
relationship between perinatal experience, DNAm, and social communication outcomes will be evaluated using
4 complementary measures: 1) ecological momentary assessments (EMAs) of prenatal stress and parental
anxiety and depression, collected using BabySteps; 2) app-recorded free play between parent and child
analyzed for dyadic synchrony and interactive behavior; 3) standardized assessments of child social
communication skills; and 4) a Language ENvironment Analysis (LENA), using a LENA audio-recording device
worn by the child at home and in daycare. We expect to identify epigenetic biomarkers that link prenatal stress
and early social experience with social communication outcomes in ASD. A better understanding of how
polygenic risk and perinat...

## Key facts

- **NIH application ID:** 10894648
- **Project number:** 5R01HD102619-02
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** Lane Strathearn
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $648,656
- **Award type:** 5
- **Project period:** 2023-08-01 → 2028-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10894648

## Citation

> US National Institutes of Health, RePORTER application 10894648, Perinatal Experience and Epigenetic Change in Autism: Discovering Modifiable Pathways for Intervention (5R01HD102619-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10894648. Licensed CC0.

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