Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder

Abstract The retina is invariably considered an extension of the central nervous system and can predict cognitive impairment in neurodevelopmental and neurodegenerative disorders. This is due to the physiological and embryological link between the retina and the brain. Since this correlation was not...

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Main Authors: Sarah Al-Mazidi, Abdulrahman Alhowikan, Nadra Elamin, Amani Abualnaja, Ahmad Al-Mnaizel, Turki Alharbi, Laila Al-Ayadhi
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-03062-z
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Summary:Abstract The retina is invariably considered an extension of the central nervous system and can predict cognitive impairment in neurodevelopmental and neurodegenerative disorders. This is due to the physiological and embryological link between the retina and the brain. Since this correlation was not previously tested in autism spectrum disorder (ASD), we aim to provide evidence for a correlation between retinal dysfunction and cognitive impairment in ASD children through previously reported retina and cognitive dysfunction biomarkers. 80 children were recruited to test biomarkers of the retinal function, Ciliary neurotrophic factor (CNTF), and cognitive function A Disintegrin and Metalloproteases 10 (ADAM10). These biomarkers were correlated with the Childhood Autism Rating Score (CARS) to distinguish ASD from cognitive impairment disorders and the Short Sensory Profile (SSP) as a sensory impairment indicator, including vision. ADAM10 was significantly decreased in ASD children compared to neurotypical children (p < 0.01). It also decreased as the severity of autism increased, as measured by CARS. We also found that CNTF decreases in ASD children with moderate severity compared to neurotypical and severe ASD groups, indicating that CNTF can be an early indicator of ASD. ADAM10 was directly related to CNTF, implying the direct correlation between the eye and cognitive function in ASD. ADAM10 is a potential indicator of cognitive function in ASD, and CNTF can be an indicator of retina function. The relationship between both biomarkers might serve as early diagnosis biomarkers and a potential therapeutic target in ASD.
ISSN:2045-2322