Improving Autism Screening With Brain-Related miRNA
Condition: Autism Spectrum Disorder; Developmental Delay
MeSH terms: Autistic Disorder; Autism Spectrum Disorder
Study type: Observational

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..
    

Intervention name(s): Saliva collection; Vineland Adaptive Behavior Scale-II Assessment
Intervention type(s): Other; Other
Intervention description(s): Collection of saliva via swab for miRNA processing
Observational model: Case-Control
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        The study will compare salivary miRNA in 2 groups of children between the ages of 18 months
        and 6 years, 11 months of age:

        Group 1: Children with autism spectrum disorder (ASD), diagnosed by a qualified clinical
        specialist using DSM-5 criteria and confirmed with ADOS, CASD, or some additional
        semi-structured evaluation measure. ASD will not be attributable to an underlying genetic
        phenotype.

        Group 2: Healthy controls with negative MCHAT-R screening not meeting DSM-5 criteria for
        ASD
      
Biospecimen description: 
      Salivary RNA