Lack of Evidence for Genomic Instability in Autistic Children as Measured by the Cytokinesis-Block Micronucleus Cytome Assay

Penelope A.E. Main, Philip Thomas, Manya T. Angley, Robyn Young, Adrian Esterman, Catherine E. King, Michael F. Fenech

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)


Autism spectrum disorders are a set of neurodevelopmental disorders that are highly hereditable. Increased genomic instability has been observed in other heritable paediatric neurobiological disorders; therefore, the aim of our study was to test the hypothesis that DNA damage is increased in children with autism and that B vitamin status may explain variations in genome integrity between autistic and normal children. We compared 35 children with autism, 27 of their siblings without autism and 25 age- and gender-matched community controls for genomic stability using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay, B vitamins and homocysteine, as well as autism-related behaviours. It was found that there were no differences in CBMN-cyt biomarkers between the three groups. Vitamin B2 was significantly raised in children with autism and their siblings compared with controls (P=0.027 and P=0.016 respectively) but there was no difference in other B vitamins or homocysteine. In conclusion, although replication using a larger cohort is needed, it appears unlikely that genomic instability is a feature of the aetiology of autism. We cannot rule out in utero effects or other types of DNA damage not measured by the CBMN-cyt assay. Autism Res 2015, 8: 94-104.

Original languageEnglish
Pages (from-to)94-104
Number of pages11
JournalAutism Research
Issue number1
Publication statusPublished or Issued - 1 Feb 2015
Externally publishedYes


  • Autism
  • B vitamins
  • Behaviour
  • DNA damage
  • Genomic instability
  • Riboflavin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Genetics(clinical)

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