Newborn screening for autism: in search of candidate biomarkers
Gerald J Mizejewski1, Barbara Lindau-Shepard, Kenneth A Pass
1Division of Translational Medicine, Wadsworth Center, NYS Department of Health, PO Box 509, Albany, NY 12201 0509, USA. mizejew@wadsworth.org
Insights
Early identification of autism spectrum disorder (ASD) risk in newborns is possible. A panel of 15 biomarkers in bloodspots can distinguish infants at risk for ASD from unaffected controls.
Area of Science:
- Biochemistry
- Neuroscience
- Pediatrics
Background:
- Autism spectrum disorder (ASD) is a neurodevelopmental condition impacting social interaction, communication, and interests.
- Current ASD diagnosis relies on behavioral assessments in children aged 3-5 years.
- Early diagnosis is crucial for timely intervention and improved outcomes.
Purpose of the Study:
- To identify newborns at risk for ASD using bloodspot specimens.
- To develop an early screening method for ASD through immunoassay analysis.
Main Methods:
- Retrospective analysis of stored frozen newborn bloodspot specimens from diagnosed ASD children and controls.
- Multiplex immunoassay analysis of 90 serum biomarkers.
- Statistical analysis to identify significant biomarker patterns.
Main Results:
- Identification of three distinct sets of five biomarkers associated with ASD.
- A panel of 15 candidate biomarkers demonstrated significant differences between ASD and control groups.
- These biomarkers show a strong association with ASD development.
Conclusions:
- A statistically selected panel of 15 biomarkers can effectively identify newborns at risk for ASD.
- This biomarker panel offers a promising tool for early ASD detection.
- Early screening via bloodspot biomarkers can facilitate prompt treatment initiation.
Background:
Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment.
Aim:
This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay.
Materials & Methods:
The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis.
Results:
Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD.
Conclusion:
This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.
