孤独症谱系障碍儿童肉碱代谢特点及辅助诊断价值

Characteristics of carnitine metabolism and its auxiliary diagnostic value in children with autism spectrum disorders

目的:探讨孤独症谱系障碍(ASD)儿童肉碱代谢特点及其辅助诊断价值。方法:选取符合DSM-V诊断标准的ASD儿童325例和正常儿童42例,用串联质谱、气相色谱-质谱技术筛查代谢疾病和检测肉碱水平;利用ROC曲线和logistic回归分析评估酰基肉碱辅助诊断价值。结果:325例ASD儿童中存在79例(24.3%)代谢紊乱,其中41例(12.6%)肉碱代谢紊乱;ASD组C4-OH、C6、C8、C10、C10DC、C12、C16、C18:1水平高于对照组;当C4-OH>9.0×10^-2μmol/L时,判别ASD的敏感度和特异度分别为55%和79%(OR=3.77,95%CI:1.29~10.99),当C8>5.1×10^-2μmol/L时,判别ASD的敏感度和特异度分别为62%和69%(OR=3.51,95%CI:1.09~11.24)。结论:ASD儿童约24.3%存在代谢紊乱,约12.6%存在肉碱代谢紊乱,并表现出独特的肉碱代谢分布,即部分酰基肉碱升高,其中C4-OH、C8升高与ASD相关。

Objective:To explore the characteristics of carnitine metabolism and its auxiliary diagnostic value in children with autism spectrum disorders(ASD).Methods:Totally 325 children diagnosed as ASD according to the DSM-V diagnostic criteria and 42 normal control children were investigated for metabolic disorders by tandem mass spectrometry(MS/MS) and gas chromatography-mass spectrometry(GC-MS),meanwhile the carnitine levels were also detected.ROC curve and logistic regression analysis were used to evaluate the auxiliary diagnostic value of acyl carnitine.Results:Among 325 ASD children,79 cases(24.3%) accompanied with metabolic disorders,including 41 cases(12.6%) of carnitine metabolic disorders.The levels of C4-OH,C6,C8,C10,C10 DC,C12,C16 and C18:1 were higher in ASD group than in normal controls.The level of C4-OH>9.0×10-2μmol/L was associated with a 55% sensitivity and 79% specificity(OR=3.77,95%CI:1.29-10.99)and the level of C8>5.1×10-2μmol/L was associated with a 62% sensitivity and 69% specificity(OR=3.51,95%CI:1.09-11.24)in the diagnosis of ASD.Conclusion:About 24.3% of ASD children accompany with metabolic disorders,about 12.6% accompany with carnitine metabolic disorders and exhibit a specific distribution of carnitine metabolism,which is elevated levels of acylcarnitine.The increase of C4-OH and C8 is related to ASD.