Improving Autism Screening With Brain-Related miRNA

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..

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 exclusion criteria will include:

• Autistic subjects with known syndromic autism (attributed to a known genetic mutation)

Control subjects only exclusion criteria will include:

• A diagnosis of autism

For both groups: wards of the state, active periodontal infection, active upper respiratory
infection