Biomarkers for Presymptomatic Screening and Diagnosing of ASD

Emory University
posted on 08/13/2010

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Applications

• A useful tool to screen and diagnose presymptomatic and asymptomatic populations with ASD based on DNA methylation patterns.
• Feasibility to develop into a routine test for new born screening in the long run.

Highlights

• Employs non-invasive sample collection method.
• Facilitates early intervention strategies for treatment of ASD.

Technical Summary

Autism spectrum disorder (ASD) includes the classical form of autism, as well as closely related disabilities with shared core characteristics. Diagnosis is usually provided by neurologists, psychologists and pediatricians who administer extensive exams and tests to patients. Since individuals with ASD exhibit a variety of developmental difficulties, diagnosis is not formalized till complex language skills emerge. Early detection is imperative since autism associated disabilities present a wide array of developmental concerns in addition to the characteristic social interaction issues.

This present technology was developed by genetic analysis of blood samples collected from individuals to be screened for ASD. The data were compared to known markers of ASD to generate a preclinical diagnosis of the condition. In particular, the researchersidentified aberrant DNA methylation patterns in the genomes of subjects at risk for ASD.

Screening of presymptomatic and asymptomatic populations provides an excellent tool to assess individuals who may be at risk of developing ASD. Availability of biomarkers to screen such individuals helps implement early intervention strategies to cope with behavioral problems that may arise at a later stage of development. Moreover, this method offers convenience in the form of a blood test and eliminates frustration associated with being administered numerous neurological and cognitive tests.

Developmental Stage & Potential Market

• About 4 million babies are born in the U.S. every year, of which 27,000 are eventually diagnosed with ASD.
• Current methods rely on behavioral tests which are not administered until the age of 2, which unnecessarily delays treatment options.
• There are no medical tests that can diagnose individuals who may be at risk for ASD.