# Autism specific patterns of DNA methylation from birth to age 5

> **NIH NIH R21** · JOHNS HOPKINS UNIVERSITY · 2021 · $204,497

## Abstract

PROJECT SUMMARY
Autism spectrum disorder (ASD) is a neurodevelopmental condition that affects up to 2% of U.S. children.
ASD disabilities have substantial adverse impacts on individuals living with ASD and their families and
communities. The estimated annual cost of ASD related disabilities exceeds $250 billion. Recent findings have
shown that early detection and intervention can minimize the impact of ASD disabilities, maximize children’s
developmental potential, and ultimately improve long-term outcomes. However, no reliable markers currently
exist to detect ASD in children under the age of 24 months and the mean age of ASD diagnosis still hovers
around age 5. The goal of this study is to address this critical need by evaluating whether early life DNA
methylation (DNAm) patterns in blood reflect later ASD diagnosis.
 Previous studies, by us and others, have found DNAm changes in older children and adults with an ASD
diagnosis. However, it isn’t clear whether these differences are present during infancy and may serve as an
early life ASD risk biomarker. In addition, despite strong evidence for epigenetic links to ASD most studies
have focused on identifying specific loci related to ASD - only one study considered changes in the epigenetic
aging pathway and none to our knowledge have examined global DNAm changes related to ASD. Finally, no
studies have tested for longitudinal changes in DNAm related to ASD. Here, we overcome previous study
limitations by leveraging a unique US population-based study of ASD with infant heal-stick cards (pre-
diagnosis) and blood collected at age 5 (post-diagnosis). This enables us to assess prospective and
longitudinal DNAm associations with ASD. We use extant (n=968) and newly generated DNAm data on 210
subjects to test our hypotheses that infant blood DNAm patterns are related to later ASD diagnoses and that
longitudinal DNAm changes occur concomitant with the emergence of ASD signs. Using samples collected
near birth and again at age 5, we will estimate differences: (1A) in heal-stick blood spot DNAm at birth and
(1B) in longitudinal DNAm patterns from birth to age 5 between children with and without an ASD diagnosis at
age 5. In Aim 2, we will test for epigenetic age acceleration/deceleration: (2A) at birth, and (2B) longitudinally
from birth to age 5 between children with and without an ASD diagnosis at age 5. Any significant associations
will undergo secondary analyses to test whether the identified DNAm changes are specific to ASD or are also
present in SEED children with other developmental disabilities.
 This R21 mechanism provides the early conceptual support needed to determine whether this area of
research warrants further examination in a larger sample, which could include ~4,000 SEED samples. The
results of this study may, ultimately, impact child health by providing an early life DNA methylation marker of
ASD risk to inform future intervention strategies. Further, the dynamic DNAm changes we identif...

## Key facts

- **NIH application ID:** 10232411
- **Project number:** 5R21HD100903-02
- **Recipient organization:** JOHNS HOPKINS UNIVERSITY
- **Principal Investigator:** Christine Ladd-Acosta
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $204,497
- **Award type:** 5
- **Project period:** 2020-08-07 → 2024-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10232411

## Citation

> US National Institutes of Health, RePORTER application 10232411, Autism specific patterns of DNA methylation from birth to age 5 (5R21HD100903-02). Retrieved via AI Analytics 2026-05-25 from https://api.ai-analytics.org/grant/nih/10232411. Licensed CC0.

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