目的研究孤独症儿童血浆多不饱和脂肪酸及血清肉毒碱水平变化,并探讨其是否与胃肠道反应存在相关性。方法选取2012年3月—2015年5月间于张家口市妇幼保健院进行诊治的37例孤独症儿童作为研究对象,并于同时间段内选取与其相匹配的院内体检健康儿童40例作为健康对照组,应用气相色谱法检测所有研究对象血浆中多不饱和脂肪酸水平,应用液相色谱质谱联用法检测血清中肉毒碱水平,比较所得数据并进行统计分析。结果孤独症儿童多不饱和脂肪酸和肉毒碱水平较健康对照组显著降低,ω-6/ω-3比值则显著高于健康对照组。孤独症儿童肉毒碱降低和ω-6/ω-3比值升高呈显著正相关(r=0.61,P<0.05);儿童孤独症等级评定表评测结果显示16例儿童属轻-中度孤独症,21例属重度孤独症。重度孤独症儿童多不饱和脂肪酸和肉毒碱水平低于轻-中度孤独症儿童,差异具有统计学意义;20例(54.1%)孤独症儿童出现胃肠道反应,表现包含周期性难以解释的上腹部疼痛、慢性便秘、腹胀及反复发作的腹泻等。与无胃肠道反应的患儿相比,有胃肠道反应的孤独症患儿肉毒碱和多不饱和脂肪酸明显降低,同时ω-6/ω-3比值明显升高。结论血浆中多不饱和脂肪酸和血清中肉毒碱水平下降可能与孤独症儿童病程进展有关,同时与胃肠道反应的发生和发展有关。 Objective To study the changes of plasma polyunsaturated fatty acids and serum carnitine in children with autism and explore whether there is a correlation with gastrointestinal reactions. Methods From March 2012 to May 2015, 37 cases of autistic children diagnosed and treated in Zhangjiakou Maternal and Child Health Hospital were selected as study objects. Forty matched healthy in-hospital children were selected as healthy controls during the same period Group, the plasma levels of polyunsaturated fatty acids in all subjects were detected by gas chromatography. The levels of carnitine in serum were determined by liquid chromatography-mass spectrometry. The data were compared and statistically analyzed. Results The levels of polyunsaturated fatty acids and carnitine in children with autism were significantly lower than those in healthy controls, while the ratio of ω-6 / ω-3 was significantly higher in children with autism than in healthy controls. There was a significant positive correlation between carnitine and ω-6 / ω-3 ratio in children with autism (r = 0.61, P <0.05). Children’s autism scale rating scale showed that 16 children were mild to moderate Symptoms, 21 cases of severe autism. The levels of polyunsaturated fatty acids and carnitine in children with severe autism were lower than those in children with mild to moderate autism, the difference was statistically significant. Gastrointestinal reactions were found in 20 children (54.1%) with autism. Upper abdominal pain, chronic constipation, bloating and recurrent diarrhea. Compared with children without gastrointestinal reactions, carnitine and polyunsaturated fatty acids in autistic children with gastrointestinal reactions were significantly decreased, while the ratio of ω-6 / ω-3 was significantly increased. Conclusions The decrease of plasma polyunsaturated fatty acids and serum carnitine may be related to the course of disease in children with autism and the occurrence and development of gastrointestinal reactions.