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 levels of sphingolipid metabolites in serum and their relations with clinical diagnosis scale and evaluate their clinical diagnostic values of autism. Methods 73 cases of children with autism and 63 normal control children were selected and determine sphingolipid metabolites levels in the serum of autistic children.Another 100 autistic children and 100 normal control children were selected to determine the levels of sphingolipid metabolites further and analyzed their correlations with the scores of Autism Behavior Checklist ABC and Childhood Autism Rating Scale (CARS), then drew their receiver operating characteristic (ROC) curves. Results Two sphingolipid metabolites, phytosphingosine (PSO) and sphingosine-1-phosphate (S1P), were found to be potentially associated with autism, both of them had significant increases in the serum levels of autistic children than those of normal group.The serum levels of both metabolites were obvious higher of autism in validation group, too.There was positively correlation between the levels of S1P and the scores of ABC.Both area under curve (AUC) and maximum of Youden index of PSO were 1.000, respectively and the best cut off value was 44.883.Sensitivity and specificity was 100% respectively.Both AUC and maximum of Youden index of S1P were 0.961 and 0.868.The best cut off value was 47.678.Sensitivity was 91.7% and specificity was 95.1%. Conclusions There are significant differences between two groups for the serum levels of PSO and S1P.The metabolic abnormality of sphingolipid metabolism may have a potential correlation with autism.Both the PSO and S1P had potential diagnosis values for autism and the best cut off values are 44.883 and 47.678.