New diagnostic tool bypasses blood-brain barrier to detect autism early

A study published in NeuroMarkers showed that a nanosensor can measure nitric oxide (NO) from patient-derived stem cells to distinguish autism spectrum disorder (ASD) from intellectual disability (ID), even when both conditions share the exact same genetic mutation.

The researchers, from the Department of Chemistry and Biochemistry at Ohio University, used a carbon-fiber nanosensor, originally developed to study cardiovascular and Alzheimer's disease to measure real-time NO production in induced pluripotent stem cells (iPSCs). The method bypasses the blood-brain barrier, which often makes blood-based biomarkers unreliable for brain conditions.

"ASD patient cells produced about 6 nM of NO, ID patient cells produced 11 nM, and healthy control cells produced 65 nM, a clear, quantifiable difference," shares co-author Howard D. Dewald.

This is significant because ASD and ID often have overlapping symptoms and shared genetic causes, making early differential diagnosis difficult."

Howard D. Dewald, Ohio University

"Despite overlapping etiologies and symptomatic similarities between autism and other neurodevelopmental disorders, real-time bio-electrochemical analysis of newly generated nitric oxide can still serve as a biomarker for the diagnosis and differential diagnosis of autism," adds co-author Abdullah Asif Khan.

The duo chose iPSCs because they reflect the earliest developmental stage, eliminating confounding factors like age, nutrition, or drug treatments. "Surprisingly, the method did not require differentiating cells into neurons-measurements were made on undifferentiated iPSCs, simplifying the workflow," notes Dewald.

Currently, ASD diagnosis relies on behavioral evaluations, which often delay identification. "This nanosensor-based approach could enable diagnosis in the first few months after birth using somatic cells," says Khan. 

While the study is limited by sample availability, it opens a new path for precision diagnostics in neurodevelopmental disorders.