Epigenetics of Autism Spectrum Disorder

Adv Exp Med Biol. 2017:978:63-90. doi: 10.1007/978-3-319-53889-1_4.


Autism spectrum disorder (ASD), one of the most common childhood neurodevelopmental disorders (NDDs), is diagnosed in 1 of every 68 children. ASD is incredibly heterogeneous both clinically and aetiologically. The etiopathogenesis of ASD is known to be complex, including genetic, environmental and epigenetic factors. Normal epigenetic marks modifiable by both genetics and environmental exposures can result in epigenetic alterations that disrupt the regulation of gene expression, negatively impacting biological pathways important for brain development. In this chapter we aim to summarize some of the important literature that supports a role for epigenetics in the underlying molecular mechanism of ASD. We provide evidence from work in genetics, from environmental exposures and finally from more recent studies aimed at directly determining ASD-specific epigenetic patterns, focusing mainly on DNA methylation (DNAm). Finally, we briefly discuss some of the implications of current research on potential epigenetic targets for therapeutics and novel avenues for future work.

Keywords: Aetiology; Autism spectrum disorder; DNAmethylation; Epigenetics; Genetics; Heterogeneity; Molecular mechanisms.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder / etiology
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / therapy
  • DNA Methylation
  • Diseases in Twins / epidemiology
  • Diseases in Twins / genetics
  • Environmental Exposure
  • Epigenesis, Genetic / genetics*
  • Female
  • Forecasting
  • Gene-Environment Interaction
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / psychology
  • Humans
  • Infant, Newborn
  • Preconception Injuries
  • Pregnancy
  • Prenatal Exposure Delayed Effects
  • Risk
  • Twin Studies as Topic