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Journal of Neuroinflammation
Published in: Journal of Neuroinflammation 1/2013

Open Access 01-12-2013 | Research

Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder

Authors: Valerio Napolioni, Benjamin Ober-Reynolds, Szabolcs Szelinger, Jason J Corneveaux, Traci Pawlowski, Sharman Ober-Reynolds, Janet Kirwan, Antonio M Persico, Raun D Melmed, David W Craig, Christopher J Smith, Matthew J Huentelman

Published in: Journal of Neuroinflammation | Issue 1/2013

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Abstract

Objective

Converging lines of evidence point to the existence of immune dysfunction in autism spectrum disorder (ASD), which could directly affect several key neurodevelopmental processes. Previous studies have shown higher cytokine levels in patients with autism compared with matched controls or subjects with other developmental disorders. In the current study, we used plasma-cytokine profiling for 25 discordant sibling pairs to evaluate whether these alterations occur within families with ASD.

Methods

Plasma-cytokine profiling was conducted using an array-based multiplex sandwich ELISA for simultaneous quantitative measurement of 40 unique targets. We also analyzed the correlations between cytokine levels and clinically relevant quantitative traits (Vineland Adaptive Behavior Scale in Autism (VABS) composite score, Social Responsiveness Scale (SRS) total T score, head circumference, and full intelligence quotient (IQ)). In addition, because of the high phenotypic heterogeneity of ASD, we defined four subgroups of subjects (those who were non-verbal, those with gastrointestinal issues, those with regressive autism, and those with a history of allergies), which encompass common and/or recurrent endophenotypes in ASD, and tested the cytokine levels in each group.

Results

None of the measured parameters showed significant differences between children with ASD and their related typically developing siblings. However, specific target levels did correlate with quantitative clinical traits, and these were significantly different when the ASD subgroups were analyzed. It is notable that these differences seem to be attributable to a predisposing immunogenetic background, as no other significant differences were noticed between discordant sibling pairs. Interleukin-1β appears to be the cytokine most involved in quantitative traits and clinical subgroups of ASD.

Conclusions

In the present study, we found a lack of significant differences in plasma-cytokine levels between children with ASD and in their related non-autistic siblings. Thus, our results support the evidence that the immune profiles of children with autism do not differ from their typically developing siblings. However, the significant association of cytokine levels with the quantitative traits and the clinical subgroups analyzed suggests that altered immune responses may affect core feature of ASD.
Appendix
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Metadata
Title
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder
Authors
Valerio Napolioni
Benjamin Ober-Reynolds
Szabolcs Szelinger
Jason J Corneveaux
Traci Pawlowski
Sharman Ober-Reynolds
Janet Kirwan
Antonio M Persico
Raun D Melmed
David W Craig
Christopher J Smith
Matthew J Huentelman
Publication date
01-12-2013
Publisher
BioMed Central
Published in
Journal of Neuroinflammation / Issue 1/2013
Electronic ISSN: 1742-2094
DOI
https://doi.org/10.1186/1742-2094-10-38

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