Related Experiment Video
Updated: Jun 5, 2025

Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
Low Plasma Levels of Contactin-Associated Protein-Like 2 in Children with Autism Spectrum Disorder: Links to Neural
Laila Yosif Alayadhi1,2, Dost Muhammad Halepoto1, Abdulrahman Mohammed Alhowikan1,2
1Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Riyadh, Saudi Arabia.
Background:
Autism spectrum disorder (ASD) is a condition of atypical neurodevelopment and is characterized by social communication problems and repetitive patterns of behavior. Early diagnosis and intervention are decisive for managing symptoms and improving outcomes. Contactin-associated protein-like 2 (CNTNAP2) protein is implicated in neural development and plays a role in brain connectivity and synapse formation. Genetic research has shown a possible link between CNTNAP2 and ASD.
Aim:
We aimed to discover the blood plasma levels of CNTNAP2 in children with ASD and explore the potential association between CNTNAP2 concentrations and ASD severity.
Methodology:
This case-control study included children with ASD (n=40) and aged-matched healthy controls (n=40). Blood plasma levels of CNTNAP2 were measured using enzyme-linked immunosorbent assay (ELISA). The Children Autism Rating Scale (CARS) and Social Responsiveness Scale (SRS) were used to assess the severity of the ASD. Spearman correlation coefficient (r) was used to correlate the variables.
Results:
Children with severe ASD had significantly lower CNTNAP2 levels (0.31 (0.14) ng/mL, p=0.003) compared to normal controls (0.47 (0.24) ng/mL). However, CNTNAP2 levels of children with mild autism (0.44(0.22), ng/mL, p=0.77) were not significantly different as compared to normal controls (0.47 (0.24) ng/mL). Furthermore, a significant difference was found between CNTNAP2 levels, by comparing the mild and severe groups based on the CARS (p= 0.05). Furthermore, no significant correlation between CNTNAP2 levels, and severity scores (CARS and SRS), was obtained. However, a significant correlation between CNTNAP2 and age was observed.
Conclusion:
The low CNTNAP2 plasma level in children with ASD indicated that it might be involved in the pathophysiology of ASD. Nevertheless, these results should be interpreted with care till more studies are achieved using a larger population to decide whether the reduction in CNTNAP2 plasma level is a mere outcome of ASD or it plays a pathogenic role in the disease.
Related Concept Videos
Autism 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.
Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...

