孤独症谱系障碍患儿血清NFL、t-tau表达水平及临床意义

Serum NFL and t-tau expression levels and clinical significance in children with autism spectrum disorder

摘要

目的 探讨孤独症谱系障碍(ASD)患儿血清神经丝蛋白轻链(NFL)、tau蛋白(t-tau)表达水平及临床意义。方法 选取2021年5月至2023年1月期间我院门诊初次诊断为ASD的78例患儿作为研究对象(ASD组),根据儿童期孤独症评定量表(CARS)评分结果将分为轻中度组(n=51)和重度组(n=27).另选同期来我院进行健康检查的120例健康儿童作为健康组.对比组间血清NFL、t-tau水平差异;采用Pearson相关分析探讨血清NFL、t-tau与CARS评分的关系;采用受试者工作特性(ROC)曲线评估血清NFL、t-tau对ASD发生的预测价值。结果 ASD组患儿基本资料与健康组相比,差异无统计学意义(P>0.05).ASD组患儿血清NFL、t-tau水平均明显高于健康组(t值分别为46.795和76.669,均P<0.05).重度组患儿血清NFL、t-tau水平均明显高于轻中度组(t值分别为11.753和30.382,均P<0.05).Pearson相关分析结果显示,ASD患儿血清NFL、t-tau水平与CARS评分均呈正相关(r值分别为0.503和0.442,均P<0.05).ROC曲线结果显示,血清NFL、t-tau预测ASD发病的曲线下面积(AUC)(95%CI)分别为0.752(0.701~0.803)、0.837(0.786~0.888),截断值分别为18.74pg/mL、516.71ng/L,特异度分别为55.27%、66.14%,灵敏度为91.24%、91.24%;两者联合预测的AUC(95%CI)为0.905(0.854~0.956),特异度为87.31%,灵敏度为86.05%。结论 血清NFL、t-tau水平在ASD患儿中表达上调,且与病情严重程度密切相关,有望作为预测ASD发生的潜在血清标记物.

Abstract

Objective To investigate the expression levels and clinical significance of serum neurofilament light chain (NFL) and tau protein (t-tau) in children with autism spectrum disorder (ASD). Methods A total of 78 children who were first diagnosed with ASD in the outpatient clinic of our hospital between May 2021 and January 2023 were selected as the study subjects (ASD group), and were divided into the mild-moderate group (n=51) and the severe group (n=27) according to the scores of the Childhood Autism Rating Scale (CARS). Another 120 healthy children who came to our hospital for health examination during the same period were selected as the healthy group. The differences in serum NFL and t-tau levels were compared between the groups; Pearson correlation analysis was used to explore the relationship between serum NFL, t-tau and CARS scores; and the predictive value of serum NFL and t-tau on the occurrence of ASD was assessed using the receiver operating characteristic (ROC) curve. Results The difference in basic characteristics between the children in the ASD group and the healthy group were not statistically significant (P>0.05). The serum NFL and t-tau levels of children in the ASD group were significantly higher than those in the healthy group (t=46.795 and 76.669, respectively, P<0.05). The serum NFL, t-tau levels of children in the severe group were significantly higher than those in the mild-moderate group (t=11.753 and 30.382, respectively, P<0.05). Pearson correlation analysis showed that the serum NFL, t-tau levels of children with ASD were positively correlated with the CARS scores (r=0.503 and 0.442, respectively, P<0.05). The results of the ROC curves showed that the area under curve (AUC) (95%CI) of serum NFL and t-tau in predicting the onset of ASD were 0.752 (0.701-0.803) and 0.837 (0.786-0.888), with cut-off values of 18.74pg/mL and 516.71ng/L, respectively, and specificity of 55.27% and 66.14%, respectively, and sensitivity of 91.24% for both; the AUC (95%CI) for the combined prediction of the two was 0.905 (0.854-0.956), with specificity of 87.31% and sensitivity of 86.05%. Conclusion Serum NFL and t-tau levels were up-regulated in expression in children with ASD and closely correlated with the severity of the disease, which is expected to be used as potential serum markers to predict the occurrence of ASD.

关键词

孤独症谱系障碍 / 儿童 / 神经丝蛋白轻链 / tau蛋白 / 病情严重程度

Key words

autism spectrum disorders / children / neurofilament protein light chain / tau protein / severity of condition

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