Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by impairments in communication and social interaction as well as restricted interests and repetitive behaviors. The pathogenesis of ASD is not completely understood, but a growing body of research has demonstrated that the immune response may be a contributing factor in the etiology and/ or ontogeny of ASD. The aim of this study was to determine the expression levels of IL-1β, IL-1α, IL-4, IL-6, IL-17, TNF-α and TGF-β in peripheral blood mononuclear cells of children with ASD and healthy controls in order to determine the contributions of cytokines to ASD. Within the study timeframe, 195 children with ASDs (80.5% male) and 162 controls (73.6% male) were enrolled. Most children with ASD had a comorbid disorder (n = 114, 58.5%), with the most common diagnoses as Intellectual Developmental Disorder (IDD, n = 64, 32.8%) and ADHD (n = 64, 32.8%). The majority of children with ASD had severe autistic symptoms as evaluated via Childhood Autism Rating Scale (CARS, n = 130, 64.6%). The mean CARS score in the ASD sample was 40.8 (S.D. = 7.6). The patients with ASD were found to have significantly higher levels of IL-6 (p < 0.001) and significantly lower levels of IL-17 (p < 0.05, all Bonferroni corrected). Treatment tended to affect IL-4 levels. Lastly, discriminant function analysis (DFA) revealed that a combination of IL-6, IL-17 and IL-1α correctly classified 56.6% of cases. Despite extensive immunological evidence suggesting immune system aberrations, further research is required to clarify the relationship between immune profiles and ASD symptoms.

中文翻译：

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自闭症谱系障碍中的细胞因子表达谱：来自土耳其的多中心研究

自闭症谱系障碍 (ASD) 是一种复杂的神经发育障碍，其特征是交流和社交互动障碍以及兴趣受限和重复行为。ASD 的发病机制尚不完全清楚，但越来越多的研究表明，免疫反应可能是 ASD 病因和/或个体发育的一个促成因素。本研究的目的是测定 ASD 和健康儿童外周血单个核细胞中 IL-1β、IL-1α、IL-4、IL-6、IL-17、TNF-α 和 TGF-β 的表达水平。控制以确定细胞因子对 ASD 的贡献。在研究时间范围内，招募了 195 名 ASD 儿童（80.5% 男性）和 162 名对照组（73.6% 男性）。大多数 ASD 儿童患有共病（n = 114, 58.5%），最常见的诊断为智力发育障碍 (IDD, n = 64, 32.8%) 和 ADHD (n = 64, 32.8%)。通过儿童自闭症评定量表 (CARS, n = 130, 64.6%) 评估，大多数 ASD 儿童有严重的自闭症症状。ASD 样本中的平均 CARS 得分为 40.8（SD = 7.6）。发现 ASD 患者的 IL-6 水平显着升高（p < 0.001），IL-17 水平显着降低（p < 0.05，所有 Bonferroni 校正）。治疗往往会影响 IL-4 水平。最后，判别函数分析 (DFA) 显示 IL-6、IL-17 和 IL-1α 的组合正确分类了 56.6% 的病例。尽管大量免疫学证据表明免疫系统异常，但仍需要进一步研究以阐明免疫特征与 ASD 症状之间的关系。