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Examining Erythrocytes as Potential Blood Biomarkers for Autism Spectrum Disorder: Their Relationship to Symptom
Tomas Jasenovec1, Dominika Radosinska2, Ivan Belica1
1Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Sasinkova 2, 811 08 Bratislava, Slovakia.
Insights
Autism spectrum disorder (ASD) severity in children is linked to red blood cell (RBC) properties like deformability and NO production. However, these RBC characteristics are not yet reliable biomarkers for diagnosing or predicting autism severity.
Area of Science:
- Biochemistry
- Neuroscience
- Hematology
Background:
- Children with autism spectrum disorder (ASD) exhibit erythrocyte abnormalities.
- Reduced red blood cell (RBC) deformability may impact brain function in ASD.
- Nitric oxide (NO) and Na,K-ATPase activity are implicated in both RBC deformability and ASD.
Purpose of the Study:
- To investigate associations between erythrocyte properties and autism severity.
- To explore RBC parameters as potential biomarkers for ASD.
Main Methods:
- 179 children with ASD were assessed using ADOS-2 and VABS-3.
- RBC deformability was measured via filtration.
- RBC nitric oxide (NO) production, Na,K-ATPase kinetics, and osmotic resistance were evaluated.
Main Results:
- More severe ASD symptoms correlated with impaired RBC deformability and osmotic resistance.
- Higher RBC NO production linked to better adaptive behavior and social affect scores.
- Increased Na,K-ATPase affinity for sodium negatively correlated with restricted behaviors in ASD.
Conclusions:
- Potential links exist between ASD severity and specific RBC properties.
- RBC deformability, NO production, Na,K-ATPase kinetics, and osmotic resistance show associations with ASD.
- These erythrocyte parameters were not sufficiently strong or consistent to serve as reliable diagnostic or prognostic biomarkers for ASD.
Background:
Multiple research teams have documented various abnormalities in erythrocyte properties in children with autism spectrum disorder (ASD) compared with neurotypical individuals. Reduced erythrocyte deformability, a crucial factor for microcirculation and oxygen delivery, may affect brain function. Other key factors like nitric oxide (NO) and Na,K-ATPase-regulated cation transport also play roles in both erythrocyte deformability and ASD, suggesting a possible relationship between erythrocyte parameters and autism severity. Thus, this study aims to describe these associations, exploring erythrocyte properties as potential biomarkers in ASD.
Methods:
A total of 179 ASD children were enrolled in this study. Diagnosis was confirmed by the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised. The Vineland Adaptive Behavior Scales, Third Edition (VABS-3), was used to assess adaptive behavior. RBC deformability was measured using a filtration technique, while NO production by RBCs was assessed via DAF-2DA fluorescence. Na,K-ATPase kinetics and RBC osmotic resistance were evaluated spectrophotometrically.
Results:
Children with more severe ASD symptoms had more impaired deformability and osmotic resistance than children with mild symptoms. Higher RBC NO production was linked to better scores in some VABS-3 subdomains, and in the social affect domain of ADOS-2. Higher affinity of Na,K-ATPase for sodium negatively correlated with the occurrence of repetitive and restricted behavior-one of the core ASD symptoms.
Conclusions:
This study identified potential links between ASD severity and RBC properties. While erythrocyte quality can influence ASD symptomatology, the observed relationships-such as those involving RBC deformability, NO production, Na,K-ATPase kinetics, and osmotic resistance-were not strong or consistent enough to be considered reliable diagnostic or prognostic biomarkers.
Related Concept Videos
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:27Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...