分子生物标志物可用于跟踪自闭症幼儿接受综合治疗模式后的临床改善情况。
Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers.
机构信息
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ85004, USA.
Department of Human, Neuroscience Sapienza University, Rome, Italy.
出版信息
Acta Neuropsychiatr. 2021 Oct;33(5):267-272. doi: 10.1017/neu.2021.12. Epub 2021 Apr 30.
OBJECTIVES
Identifying an objective, laboratory-based diagnostic tool (e.g. changes in gene expression), when used in conjunction with disease-specific clinical assessment, could increase the accuracy of the effectiveness of a therapeutic intervention.
METHODS
We assessed the association between treatment outcome and blood RNA expression before the therapeutic intervention to post-treatment (after 1 year) of five autism spectrum disorder (ASD) toddlers who underwent an intensive cognitive-behavioural intervention integrated with psychomotor and speech therapy.
RESULTS
We found 113 significant differentially expressed genes enriched for the nervous system, immune system, and transcription and translation-related pathways. Some of these genes, as MALAT-1, TSPO, and CFL1, appear to be promising candidates.
CONCLUSIONS
Our findings show that changes in peripheral gene expression could be used in conjunction with clinical scales to monitor a rehabilitation intervention's effectiveness in toddlers affected by ASD. These results need to be validated in a larger cohort.
目的
当与特定疾病的临床评估相结合时，识别出一种基于实验室的客观诊断工具（例如基因表达的变化），可以提高治疗干预效果的准确性。
方法
我们评估了在接受治疗前（治疗后 1 年）与治疗后（治疗后 1 年）五个接受强化认知行为干预、整合心理运动和言语治疗的自闭症谱系障碍（ASD）幼儿的血液 RNA 表达与治疗结果之间的关联。
结果
我们发现了 113 个具有显著差异表达的基因，这些基因富集在神经系统、免疫系统以及转录和翻译相关途径中。其中一些基因，如 MALAT-1、TSPO 和 CFL1，似乎是很有前途的候选基因。
结论
我们的研究结果表明，外周基因表达的变化可以与临床量表结合使用，以监测受 ASD 影响的幼儿康复干预的效果。这些结果需要在更大的队列中得到验证。
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