Background. It is inconclusive whether children with autism spectrum disorder (ASD) experience a deficit in facial emotion recognition. The dopaminergic pathway has been implicated in the pathogenesis of ASD. This study was aimed at determining facial emotion recognition and its correlation with polymorphisms in the dopaminergic pathway genes in children with ASD. Methods. Facial emotion recognition was examined in 98 children with ASD and 60 age- and gender-matched healthy controls. The severity of ASD was evaluated using the Childhood Autism Rating Scale (CARS). DNA from blood cells was used to analyze the genotypes of single-nucleotide polymorphisms (SNPs) in dopaminergic pathway genes. SNPs of DBH rs1611115, DDC rs6592961, DRD1 rs251937, DRD2 rs4630328, and DRD3 rs167771 were analyzed. Results. Children with ASD took a significantly longer time to recognize all facial emotions, and their interpretations were less accurate for anger at low intensity and fear at both low and high intensities. The severity of the disease was associated with significant delays in recognition of all facial emotions and with a decrease in accuracy in recognition of happiness and anger at low intensity. Accuracy in recognizing fear at high intensity and sadness at low intensity was associated with rs251937 and rs4630328, respectively, in children with ASD. Multivariate logistic regression analysis revealed that SNP rs167771, response time for the recognition of happiness, sadness and fear, and accuracy in recognition of anger and fear were all associated with the risk of childhood ASD. Conclusions. Children with ASD experience a deficit in facial emotion recognition. Certain SNPs in the dopaminergic pathway genes are associated with accuracy in recognizing selective facial emotions in children with ASD.

中文翻译：

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自闭症儿童面部情绪识别及多巴胺能通路基因多态性

背景。自闭症谱系障碍（ASD）儿童是否存在面部情绪识别缺陷尚无定论。多巴胺能通路与 ASD 的发病机制有关。本研究旨在确定 ASD 儿童面部情绪识别及其与多巴胺能通路基因多态性的相关性。方法。对 98 名自闭症儿童和 60 名年龄和性别匹配的健康对照组进行了面部情绪识别检查。使用儿童自闭症评定量表 (CARS) 评估 ASD 的严重程度。来自血细胞的 DNA 用于分析多巴胺能通路基因中单核苷酸多态性 (SNP) 的基因型。分析了 DBH rs1611115、DDC rs6592961、DRD1 rs251937、DRD2 rs4630328 和 DRD3 rs167771 的 SNP。结果。患有 ASD 的儿童需要更长的时间来识别所有面部情绪，他们对低强度的愤怒和低强度和高强度的恐惧的解释不太准确。这种疾病的严重程度与对所有面部情绪的识别显着延迟以及在低强度下识别快乐和愤怒的准确性降低有关。在 ASD 儿童中，识别高强度恐惧和低强度悲伤的准确性分别与 rs251937 和 rs4630328 相关。多元逻辑回归分析显示，SNP rs167771、识别快乐、悲伤和恐惧的反应时间以及识别愤怒和恐惧的准确性都与儿童 ASD 的风险相关。结论. 患有 ASD 的儿童在面部情绪识别方面存在缺陷。多巴胺能通路基因中的某些 SNP 与识别 ASD 儿童选择性面部情绪的准确性有关。