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目的探讨孤独症患儿血清中鞘脂类代谢产物水平及其与临床诊断量表的相关性,评价其对孤独症的潜在诊断价值。方法对73例孤独症儿童和63例正常对照儿童血清鞘脂类进行分析,找出与孤独症有关的代谢产物并测其水平;用同法对另100例孤独症儿童和100例正常对照儿童进行验证,并分析其与孤独症儿童行为检查量表(Autism Behavior Checklist,ABC)和儿童孤独症评定量表(Childhood Autism Rating Scale,CARS)的相关性,绘制ROC曲线。结果筛选出两种与孤独症有关的鞘脂类代谢产物植物鞘氨醇(phytosphingosine,PSO)和1-磷酸鞘氨醇(sphingosine-1-phosphate,S1P),其含量在孤独症组明显升高(P<0.05);验证发现孤独症组PSO和S1P含量明显升高(P<0.05),S1P与ABC总分呈显著正相关。PSO的ROC曲线得到其曲线下面积(AUC)和Youden指数最大值均为1.000,最佳临界值为44.883,对应的敏感度和特异度为100%。S1P的AUC为0.961,Youden指数最大值为0.868,最佳临界值为47.678,对应的敏感度为91.7%,特异度为95.1%。结论孤独症患儿血清中PSO和S1P含量与正常儿童存在明显差异,提示鞘脂类代谢异常可能与孤独症有一定关联,且二者对孤独症有较好的诊断价值,ROC曲线确定的最佳临界值分别为44.883和47.678。
Objective To explore the correlation between serum sphingolipid metabolites in children with autism and its clinical diagnostic scale and to evaluate its potential diagnostic value for autism. Methods Serum sphingolipids of 73 children with autism and 63 children with normal controls were analyzed to find the metabolites related to autism and their levels were measured. Another 100 autistic children and 100 normal control children The correlation between Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS) was analyzed and the ROC curve was drawn. Results Two autophagic phytosphingosine (PSO) and sphingosine-1-phosphate (S1P) products were screened and their contents were significantly elevated in autism group (P <0.05). The levels of PSO and S1P in autism group were significantly increased (P <0.05), and there was a significant positive correlation between S1P and ABC score. The area under the curve (AUC) and the Youden index of the PSO were both 1.000 with the best cut-off value of 44.883 and the corresponding sensitivity and specificity were 100%. The AUC of S1P was 0.961, the Youden index was 0.868, the best cutoff was 47.678, the corresponding sensitivity was 91.7% and the specificity was 95.1%. Conclusions The serum levels of PSO and S1P in children with autism are significantly different from those in normal children, suggesting that the abnormal metabolism of sphingolipids may be related to autism. Both of them have good diagnostic value for autism, The good cutoffs were 44.883 and 47.678 respectively.