Identification of developmental disorders including autism spectrum disorder using salivary miRNAs in children from Bosnia and Herzegovina

PLoS One. 2020 Apr 30;15(4):e0232351. doi: 10.1371/journal.pone.0232351. eCollection 2020.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by major social, communication and behavioural challenges. The cause of ASD is still unclear and it is assumed that environmental, genetic and epigenetic factors influence the risk of ASD occurrence. MicroRNAs (miRNAs) are short 21-25 nucleotide long RNA molecules which post-transcriptionally regulate gene expression. MiRNAs play an important role in central nervous system development; therefore, dysregulation of miRNAs is connected to changes in behaviour and cognition observed in many disorders including ASD. Based on previously published work, on diagnosing ASD using miRNAs, we hypothesized that miRNAs can be used as biomarkers in children with suspected developmental disorders (DD) including ASD within Bosnian-Herzegovinian (B&H) population. 14 selected miRNAs were tested on saliva of children with suspected developmental disorders including ASD. The method of choice was qRT-PCR as a relatively cheap method available in most diagnostic laboratories in low to mid-income countries (LMIC). Out of 14 analysed miRNAs, 6 were differentially expressed between typically developing children and children with some type of developmental disorder including autism spectrum disorder. Using the most optimal logistic regression, we were able to distinguish between ASD and typically developing (TD) children. We have found 5 miRNAs as potential biomarkers. From those, 3 were differentially expressed within the ASD cohort. All 5 miRNAs had shown good chi-square statistics within the logistic regression performed on all 14 analysed miRNAs. The accuracy of 5-miRNAs model training set was 90.2%, while the validation set had a 90% accuracy. This study has shown that miRNAs may be considered as biomarkers for ASD detection and may be used to identify children with ASD along with standard developmental screening tests. By combining these methods we may be able to reach a reliable and accessible diagnostic model for children with ASD in LMIC such as B&H.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / metabolism
  • Biomarkers / analysis
  • Bosnia and Herzegovina
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • MicroRNAs / analysis
  • MicroRNAs / genetics*
  • Saliva / chemistry
  • Saliva / metabolism*

Substances

  • Biomarkers
  • MicroRNAs

Grants and funding

The research and development of this publication was supported by the United States Agency for International Development (USAID) through the Marginalized Populations Support Activity in Bosnia and Herzegovina (USAID/PPMG) to NP. The views expressed in this publication do not necessarily reflect those of USAID or the United States Government, and are the exclusive responsibility of the author and the research team. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.