A Salivary miRNA Diagnostic Test for Autism


The goal of this study is to validate a panel of miRNAs that distinguish children with autism spectrum disorder (ASD) from their non-ASD peers with a positive MCHAT-R. These biomarkers may allow earlier diagnosis of autism, allowing earlier service, and also help us to understand some of the changes in the brains of autistic children.

Full Title of Study: “Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: August 31, 2021

Detailed Description

The central aim of this project is to validate a panel of expressed microRNA (miRNA) in the saliva of children identified at risk for developing ASD by the MCHAT-R. Further, this study aims to assess the value of the current panel as an adjunctive test that may increase specificity of MCHAT-R positive results, or affirm clinical diagnoses alongside the ADOS or other objective assessments. The primary endpoints of this study are as follows: 1. Evaluate the diagnostic ability (sensitivity and specificity) of the current a salivary microtranscriptome panel for distinguishing children with ASD from their non-ASD peers. 2. Assess stability of the salivary microtranscriptome diagnosis over time, and interrogate longitudinal microtranscriptome levels relative to neuropsychological measures. Secondary endpoints are the identification of microtranscriptome features whose concentrations correlate with ASD endophenotypes.


  • Other: Salivary collection
    • Collection of saliva via swab for miRNA processing
  • Other: Vineland Adaptive Behavior Scale-III Assessment
  • Other: Medical history questionaire
  • Other: Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)
  • Other: Mullen Scales of Early Learning

Arms, Groups and Cohorts

  • MCHAT-R Positive
    • Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.

Clinical Trial Outcome Measures

Primary Measures

  • Salivary miRNA profile
    • Time Frame: at the time of collect (from 18m to 6 years of age)
    • Measures of miRNA abundance in saliva

Secondary Measures

  • Measures of adaptive function
    • Time Frame: At time of enrollment (from 18m to 6 years of age)
    • Vineland Adaptive Behavior Composite Score
  • Measures of early intellectual development
    • Time Frame: At time of enrollment (from 18m to 6 years of age)
    • Mullen Scales of Early Learning
  • Measure of autistic behavior
    • Time Frame: At time of enrollment (from 18m to 6 years of age)
    • Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only)

Participating in This Clinical Trial

Inclusion Criteria

  • Age at enrollment: 24 months to 48 months (inclusive) – MCHAT-R score of 3 or greater – Parent/guardian must be fluent in spoken English (required to complete study specific questionnaires etc) Exclusion Criteria:

  • confounding neurological (i.e. cerebral palsy, epilepsy), sensory (i.e. auditory or visual) impairments, and feeding tube dependence. – history of extreme pre-term birth (< 32 weeks gestation) – wards of the state – Autistic subjects with known syndromic autism (attributed to a known genetic mutation)

Gender Eligibility: All

Minimum Age: 24 Months

Maximum Age: 48 Months

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • State University of New York – Upstate Medical University
  • Collaborator
    • National Institute of Mental Health (NIMH)
  • Provider of Information About this Clinical Study
    • Principal Investigator: Frank A Middleton, Principal Investigator/Associate Professor – State University of New York – Upstate Medical University
  • Overall Contact(s)
    • Frank Middleton, PhD, 315-464-7729, middletf@upstate.edu


Hicks SD, Ignacio C, Gentile K, Middleton FA. Salivary miRNA profiles identify children with autism spectrum disorder, correlate with adaptive behavior, and implicate ASD candidate genes involved in neurodevelopment. BMC Pediatr. 2016 Apr 22;16:52. doi: 10.1186/s12887-016-0586-x.

Hicks SD, Rajan AT, Wagner KE, Barns S, Carpenter RL, Middleton FA. Validation of a Salivary RNA Test for Childhood Autism Spectrum Disorder. Front Genet. 2018 Nov 9;9:534. doi: 10.3389/fgene.2018.00534. eCollection 2018.

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