Abstract: Objective To analyze the specificity of amyloid precursor protein (APP) and brain derived neurotrophic factor (BDNF) in peripheral blood in children with autism spectrum disorder (ASD), so as to explore the biomarkers for early diagnosis of ASD. Method A total of 103 ASD children,25 children with intellectual disability (ID),25 children with attention deficit hyperactivity disorder (ADHD) and 78 healthy children in Hubei Provincial Maternal and Child Health Care Hospital were enrolled in this study from January 2013 to December 2016. And the plasma total sAPP, sAPP-α, sAPP-β and brain-derived neurotrophic factor (BDNF) of participants were tested by sensitive enzyme-linked immunosorbent assay method, and were compared among those four groups. Results The levels of sAPP and sAPP-α among ASD, ID, ADHD and normal control groups were significantly different (Z=86.17,39.01,both P＜0.001), while the difference on the levels of sAPP-β and BDNF among those four groups were not significant (both P＞0.05). Conclusions Considering the specific change of APP in ASD children, APP may be a promising biomarker in the early diagnosis of ASD.

Key words: autism spectrum disorder, amyloid precursor protein, brain derived neurotrophic factor, attention deficit hyperactivity disorder, intellectual disability

摘要： 目的 研究外周血淀粉酶样前体蛋白(APP)家族、脑源性生长因子(BDNF)在儿童孤独症谱系障碍(ASD)外周血中表达的特异性,探索疾病早期筛查的生物学标记物。方法 采用酶联免疫吸附实验检测2013年1月—2016年12月间就诊的103例ASD儿童血浆总sAPP,sAPP-α,sAPP-β和BDNF水平,并与78例正常健康儿童、25例儿童注意缺陷多动障碍(ADHD)及25例智力障碍(ID)患儿的相关指标进行比较。结果 sAPP和sAPP-α在ASD、ID、 ADHD及正常对照组间差异具有统计学意义(Z=86.17、39.01,P均＜0.001);sAPP-β和BDNF的表达差异无统计学意义(P均>0.05)。结论 外周血APP表达水平在ASD儿童中具有特异性,可以作为疾病筛查的实验室指标。

关键词: 孤独症谱系障碍, 淀粉样前体蛋白, 脑源性生长因子, 注意缺陷多动障碍, 智力障碍