Autism spectrum disorder (ASD) is a continuum of neurodevelopmental characteristics that includes deficits incommunication and social interaction, as well as restrictive, repetitive interests and behaviors. ASD is anincreasing public health concern, with about 1 in 45 American children diagnosed with ASD in 2014, a 10-foldincrease in prevalence over the past 40 years. The effect of ASD on both society and the economy is a largeburden, estimated at more than $286 billion per year in the U.S. alone. While a single direct link to ASDdiagnosis has not been determined, studies have identified genetic, epigenetic, neurological, hormonal,and environmental factors that affect outcomes for patients with ASD. In order to effectively treat patients withASD, timely detection is crucial for implementation of early treatment options. Using knowledge of thesepreexisting factors for ASD, doctors can begin treatment while the patient is still young, even if the child hasnot begun to exhibit typical ASD symptoms. Studies suggest that earlier treatment results in better functionaloutcomes and reductions in symptoms of ASD. These models, medications and programs have proven to beeffective in managing the symptoms of ASD, and may remove some patients from the ASD spectrum entirely.Unfortunately, current diagnostic methods for ASD are not very accurate for young children; the average age ofdiagnosing ASD is three years old, and about half of those are false positives. Development of accuratediagnostic biomarkers for ASD would thus represent a valuable addition to patient care. Motion Intelligence isdeveloping an approach to diagnose ASD by measuring brain-related micro ribonucleic acids (miRNAs) insaliva. Extracellular transport of miRNA via exosomes and other microvesicles is an established epigeneticmechanism for cells to alter gene expression in nearby cells. The microvesicles are extruded into theextracellular space, where they can dock and enter neighboring cells, and alter gene expression. Thesemicrovesicles are present in various bodily fluids, such as saliva. This has enabled Motion Intelligence tomeasure genetic material that may have originated from the central nervous system simply by collecting saliva.This method minimizes many of the limitations associated with analysis of post-mortem brain tissue (e.g.,anoxic brain injury, RNA degradation, post-mortem interval, agonal state), or peripheral leukocytes (relevanceof expression changes, painful blood draws) employed in previous studies. Thus, extracellular miRNAquantification in saliva provides an attractive and minimally invasive technique for biomarker identification inchildren with ASD. This Phase I study will include a prospective clinical trial that will characterize theexpression pattern of salivary miRNAs in children with ASD and age- and gender-matched controls with typicaldevelopment. Data from half of the subjects will be used as a training dataset to create an algorithm of relevantmiRNA biomarkers, and the other half will be used in a validation study to determine the efficacy of thisalgorithm.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
