Association of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: a preliminary report

• Type of Material: Article
• Authors: Heather Ross, Emory University; Ying Guo, Emory University; Karlene Coleman, Emory University; Opal Ousley, Emory University; Andrew H Miller, Emory University
• Language: English
• Date: 2013-07
• Publisher: Elsevier: 12 months
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2013 Elsevier Inc. All rights reserved.
• License: Creative Commons Attribution-NonCommerical-NoDerivs 3.0 Unported
• Final Published Version (URL): http://dx.doi.org/10.1016/j.bbi.2012.12.021
• Title of Journal or Parent Work: Brain, Behavior, and Immunity
• ISSN: 0889-1591
• Volume: 31
• Start Page: 76
• End Page: 81
• Grant/Funding Information: This study was funded by the National Institute of General Medical Sciences IRACDA grant (K12 GM000680), the Simons Foundation, Brain and Behavior Research Foundation, and the Robert W. Woodruff Grant.
• Keywords: autism; velo-cardio-facial syndrome; schizophrenia; DiGeorge syndrome; immunity; cytokines; repetitive behaviors; T-cell; inflammation
• Research Categories: Health Sciences, Mental Health; Health Sciences, Human Development; Biology, Biostatistics

Abstract

22q11.2 deletion syndrome (22q11DS) is a genetic disorder that conveys a significant risk for the development of social behavior disorders, including autism and schizophrenia. Also known as DiGeorge syndrome, 22q11DS is the second most common childhood genetic disorder and is characterized by an elevated risk for immune disorders, as 77% of individuals have an identifiable immune deficiency. We hypothesize that this immune dysfunction could contribute to the elevated risk of impaired social behavior seen in 22q11DS. The current study begins to elucidate these immune deficits and link them with the behavioral alterations associated with the disorder. Serum concentrations of a series of cytokines were examined, using a multiplex immunoassay, in sixteen individuals with 22q11DS and screened for autism-related behavior using the Autism Diagnostic Interview-Revised (ADI-R). This preliminary study examined correlations between specific immune proteins and each of the ADI-R algorithm scores (social, communication, and repetitive behavior). The inflammatory cytokine IL-1β, as well as the ratio between the inflammatory cytokine IL-6 and the anti-inflammatory cytokine IL-10, were correlated with social scores (r = 0.851, p = 0.004; r = 0.580, p = 0.018). In addition, the inflammatory cytokines interferon gamma and IL-12p70 were correlated with repetitive behaviors (r = 0.795, p = 0.033; r = 0.774, p = 0.002). Interestingly, IL-12 has been reported to be increased in autistic children. These data show a positive relationship between severity of autism-related behaviors and level of serum concentrations of inflammatory cytokines in individuals with 22q11DS, providing a basis for further inquiry.