Autism Spectrum Disorder, Developmental Delay
Conditions
Brief summary
The goal of this project is to identify specific miRNAs that are increased or decreased in the saliva of children with developmental delay and are useful for screening toddlers for ASD. Such a screening tool would improve the specificity of diagnosis, streamline referrals to developmental specialists, and expedite the arrangement of early intervention services.
Detailed description
The central aim of this project is to characterize the expression of exosomal microRNA (miRNA) in children with autism spectrum disorder (ASD). Currently, the CDC estimates the prevalence of ASD in U.S. children to be 1 in 68. Yet, the biological causes, diagnosis, and treatment of this disease remain ambiguous. Growing evidence implicates a genetic role in ASD. miRNAs regulate genetic expression and are altered in lymphocytes, neurons and serum of patients with ASD. Recent studies of miRNAs have shown that they can be packaged into exosomal vessels and extruded from neurons as extracellular signaling tools. This knowledge provides a novel approach for examining the genetic regulation of the central nervous system. We propose to measure the expression of extracellular miRNA in children with ASD. Expression levels of miRNA from blood and saliva will be compared between children with autism and normally developing controls. The goal of this study will be to identify genetic regulatory mechanisms involved in ASD and provide potential biomarkers for diagnostic screening. The primary endpoints of this study are as follows: 1. Characterization of brain-related miRNA in the saliva of children with ASD and typically developing control children between the ages of two and five years. 2. Identification of sets of miRNAs in saliva and plasma that are predictive of both ASD diagnosis and severity of ASD symptoms. This aim will enroll ASD and control children age 12-24 months (inclusive). Secondary endpoints include the identification of miRNA expression patterns that correlate with ASD symptom severity measured with standardized neuropsychologic testing and to characterize parental knowledge and attitudes towards epigenetic testing in the context of ASD..
Interventions
OTHERSaliva collection
Collection of saliva via swab for miRNA processing
OTHERVineland Adaptive Behavior Scale-II Assessment
Sponsors
Milton S. Hershey Medical Center
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Months to 6 Years
Healthy volunteers
Yes
Inclusion criteria
* • Age at enrollment: 18 months and 6 years (inclusive) * Control group documented negative ASD screening on M-CHAT-R * ASD group: established DSM-5 diagnosis * Parent/guardian must be fluent in written and spoken English (required to complete study specific questionnaires etc)
Exclusion criteria
For autistic subjects study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| salivary miRNA profile | at time of collection (between 18 months and 6 years of age) | Measures of miRNA abundance in saliva |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measures of adaptive function | at time of enrollment (between 18 months and 6 years) | Vineland adaptive behavior composite score |
| Measure of autistic behavior | at time of enrollment (between 18 months and 6 years) | Autism Diagnostic Observation Schedule (ADOS) Composite Score (when clinically indicated) |
Countries
United States
Outcome results
None listed