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Exploring the relationship between OXTR DNA methylation and temperament in children with neurodevelopmental

Eleonora Mascheroni1, Niccolò Butti1, Fabiana Mambretti2

  • 1Scientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, Lecco, Italy.

Frontiers in Psychology
|May 1, 2026
PubMed

Insights

DNA methylation of the oxytocin receptor gene (OXTR) was higher in children with neurodevelopmental disabilities (NDs). This epigenetic marker was linked to lower positive emotionality in children with NDs, suggesting a role in socio-emotional development.

Area of Science:

  • Neuroscience
  • Epigenetics
  • Developmental Psychology

Background:

  • Oxytocin is vital for socio-emotional development.
  • Oxytocin receptor gene (OXTR) DNA methylation (DNAm) links to socioemotional functioning.
  • The role of OXTR DNAm in neurodevelopmental disabilities (NDs) is understudied.

Purpose of the Study:

  • To investigate OXTR DNAm differences in children with NDs versus typically developing (TD) children.
  • To explore the association between OXTR DNAm and temperament in young children.
  • To examine epigenetic correlates of socio-emotional development in NDs.

Main Methods:

  • Compared OXTR DNAm at 13 CpG sites in intron 1 between 24 children with NDs and 24 TD children (3-36 months).
  • Assessed DNAm from buccal cells via salivary swabs.
  • Used principal component analysis (PCA) for CpG sites and parent-report temperament measures (Surgency/Extraversion, Negative Emotionality, Effortful Control), controlling for age and developmental quotient (DQ).

Main Results:

  • Children with NDs exhibited higher OXTR DNAm compared to TD children, particularly in principal component 2 (PC2).
  • Higher PC2 DNAm correlated with lower Surgency/Extraversion in children with NDs, but not in TD children.
  • No significant associations were found for Negative Emotionality or Effortful Control.

Conclusions:

  • Preliminary evidence suggests a link between OXTR DNAm and temperamental positive emotionality in children with NDs.
  • OXTR DNAm may serve as an epigenetic marker for early socio-emotional development in neurodevelopmental disabilities.
Abstract

Keywords:
DNA methylationSurgency/Extraversionepigeneticsneurodevelopmental disabilitiesoxytocintemperament

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