A Salivary miRNA Diagnostic Test for Autism

Study Overview
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Brief Summary
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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
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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: Evaluate the diagnostic ability (sensitivity and specificity) of the current a salivary microtranscriptome panel for distinguishing children with ASD from their non-ASD peers. 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.

Official Title
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Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder

Conditions
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Autism Spectrum Disorder, Developmental Delay

Intervention / Treatment
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* Other: Salivary collection
* 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


Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 24 Months
Maximum Age: 48 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| MCHAT-R Positive<br>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. | Other: Salivary collection<br>* Collection of saliva via swab for miRNA processing<br>Other: Vineland Adaptive Behavior Scale-III Assessment<br> <br> Other: Medical history questionaire<br> <br> Other: Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)<br> <br> Other: Mullen Scales of Early Learning<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Salivary miRNA profile | Measures of miRNA abundance in saliva | at the time of collect (from 18m to 6 years of age) | 

Secondary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Autism, Asperger's Syndrome, microRNA, epigenetic, biomarker