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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author Sarah Al-Mazidi
Abdulrahman Alhowikan
Nadra Elamin
Amani Abualnaja
Ahmad Al-Mnaizel
Turki Alharbi
Laila Al-Ayadhi
author_facet Sarah Al-Mazidi
Abdulrahman Alhowikan
Nadra Elamin
Amani Abualnaja
Ahmad Al-Mnaizel
Turki Alharbi
Laila Al-Ayadhi
author_sort Sarah Al-Mazidi
collection DOAJ
description 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.
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spelling doaj-art-d940080b8aae4adbb9cdcf085b3c66172025-08-20T03:08:25ZengNature PortfolioScientific Reports2045-23222025-05-011511910.1038/s41598-025-03062-zCognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorderSarah Al-Mazidi0Abdulrahman Alhowikan1Nadra Elamin2Amani Abualnaja3Ahmad Al-Mnaizel4Turki Alharbi5Laila Al-Ayadhi6Department of Anatomy and Physiology, Faculty of Medicine, College of Medicine, Imam Mohammed Ibn Saud Islamic UniversityDepartment of Physiology, Faculty of Medicine, King Saud UniversityAutism Research and Treatment Center, Faculty of Medicine, King Saud UniversityInternal Medicine, King Faisal Specialized Hospital and Research CenterJohn Hopkins Aramco Health careOrthopedics Department, Prince Sultan Military Medical CityDepartment of Physiology, Faculty of Medicine, King Saud UniversityAbstract 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.https://doi.org/10.1038/s41598-025-03062-z
spellingShingle Sarah Al-Mazidi
Abdulrahman Alhowikan
Nadra Elamin
Amani Abualnaja
Ahmad Al-Mnaizel
Turki Alharbi
Laila Al-Ayadhi
Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
Scientific Reports
title Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
title_full Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
title_fullStr Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
title_full_unstemmed Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
title_short Cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
title_sort cognitive function and retinal biomarkers as novel approach to diagnosing and assessing autism spectrum disorder
url https://doi.org/10.1038/s41598-025-03062-z
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