孤独症谱系障碍患儿血清叶酸及其代谢产物与维生素B12水平状况

探讨孤独症谱系障碍(autism spectrum disorder,ASD)患儿是否存在叶酸代谢异常,为建立ASD的早期预警信号和开展ASD儿童的靶向营养干预提供依据.方法 收集2015年10月-2016年9月期间在哈尔滨医科大学儿童发育行为研究中心就诊和接受康复训练,以及在本地某特教学校上学的典型ASD患者110名作为病例组,另选110名性别、年龄匹配的正常儿童青少年作为对照组.采用化学发光微粒子免疫技术(CMIA)检测2组儿童青少年血清中叶酸、维生素B12及同型半胱氨酸(Hcy)的浓度;应用酶联免疫吸附试验技术(ELISA)测定2组儿童青少年血清中叶酸代谢产物四氢叶酸(THFA)、5-甲基四氢叶酸(5-MTHF)、叶酸受体α(FRα)、叶酸受体自身抗体(FRAA)的含量,进行统计学分析.结果 ASD组血清叶酸和维生素B12的水平低于对照组,Hcy的水平高于对照组,差异均有统计学意义(t值分别为-3.12,-4.63,2.86,P值均<0.05);ASD组血清叶酸代谢产物5-MTHF的含量低于对照组,FRAA的含量高于对照组,差异均有统计学意义(t值分别为-2.28,2.88,P值均<0.05);而THFA,FRα 2组间差异均无统计学意义(P值均>0.05).结论 ASD患者体内存在明显的叶酸代谢异常,叶酸、维生素B12、5-MTHF水平降低,而Hcy、FRAA含量升高.ASD患者叶酸代谢异常可能成为ASD的预警信号,应及时开展靶向营养干预.

Serum folic acid with associated metabolites and vitamin B12 in ASD children: a case-control study

Objective To explore folic acid metabolism in autism spectrum disorder(ASD) and to provide basic information for targeted nutritional interventions.Methods During April to Oct.in 2016,110 cases with ASD aged 3-17 years were recruited from developmental and behavior clinic in Harbin Medical University and special education schools.Another 110 age-gendermatched healthy children were chosen as control group.Serum folate,vitamin B12(VitBl2) and homocysteine (Hcy) were detected by chemiluminescent immunoassay(CMIA).Folic acid metabolites tetrahydrofolate(THFA),5-methyltetrahydrofolate(5-MTHF),folate receptor α(FRα),folate receptor autoantibodies (FRAA) were detected by enzyme linked immunosorbent assay (ELISA).Results Children with ASD had lower serum levels of folate,VitB12 and higher level of Hcy compared to healthy control(P<0.05).Serum 5-MTHF was significantly lower,whereas FRAA was higher in ASD children(P<0.05).No significant differences were found between two groups in serum THFA and FRα.Conclusion Folic acid metabolism abnormalities are found in ASD children,including decreased folate,VitB12 and 5-MTHF,and increased Hcy and FRAA.Folic acid metabolism might be early biomarker for targeted nutritional intervention among ASD children.