Autism Spectrum Disorder, Developmental Delay
Conditions
Keywords
Autism, Asperger's Syndrome, microRNA, epigenetic, biomarker
Brief summary
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.
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.
Interventions
OTHERAutism Diagnostic Observation Schedule -2nd edition (ADOS-2)
OTHERMullen Scales of Early Learning
OTHERSalivary collection
Collection of saliva via swab for miRNA processing
OTHERVineland Adaptive Behavior Scale-III Assessment
OTHERMedical history questionaire
Sponsors
National Institute of Mental Health (NIMH)
Quadrant Biosciences Inc.
Milton S. Hershey Medical Center
University of Missouri-Columbia
Children's Hospital Medical Center, Cincinnati
Baylor College of Medicine
State University of New York - Upstate Medical University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
24 Months to 48 Months
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Salivary miRNA profile | at the time of collect (from 18m to 6 years of age) | Measures of miRNA abundance in saliva |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measures of adaptive function | At time of enrollment (from 18m to 6 years of age) | Vineland Adaptive Behavior Composite Score |
| Measures of early intellectual development | At time of enrollment (from 18m to 6 years of age) | Mullen Scales of Early Learning |
| Measure of autistic behavior | At time of enrollment (from 18m to 6 years of age) | Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only) |
Countries
United States
Outcome results
None listed