目的 探讨孤独症儿童中存在代谢障碍的比例及其类型, 以揭示孤独症儿童与代谢病之间的关系。方法 选取精神疾病诊断与统计手册(Diagnostic and Statistical Manual of Mental Disorders, DSM-Ⅳ)诊断标准作为依据, 以从2007年至2011年在北大六院儿科门诊确诊为孤独症的1 253名患儿作为研究对象, 通过敏路思代谢检查分析孤独症儿童代谢障碍是否存在异常。结果 在此五年间确诊为孤独症儿童的1 253例病例中, 存在代谢障碍者共204例, 占总人数的16.3%。在存在代谢障碍的患儿中, 出现了35种代谢病, 其中患有酮性双羧酸尿或轻度酮性双羧酸尿者(19.12%)、轻度酮尿症的儿童(17.15%)、乳糖或半乳糖高(12.74%)、轻度非酮性双羧酸尿(9.8%)四类代谢障碍者人数最多, 总比例占总人数的58.81%。结论 孤独症与代谢障碍之间是正相关的, 其中最敏感的有10种酮性双羧酸尿或轻度酮性双羧酸尿、轻度酮尿症、乳糖及半乳糖高、轻度非酮性双羧酸尿、赖氨酸高、半胱氨酸高、甲基丙二酸高及甲基丙二酸血症、四羟基苯乳酸高、三羟基丙酸高、四羟基苯丙酮酸。对于一些可用药改善的代谢障碍疾病, 如果能够在康复训练的同时进行代谢疾病的治疗, 双管齐下, 可能有助于提高孤独症儿童的康复效果。

Objective To explore the proportion and type of metabolic disorders in children with autism. Method Based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-Ⅳ) diagnostic criteria, 1 253 autistic children who had been diagnosed by Min Lusi metabolic analysis were chosen as research subjects from 2007 to 2011. Results In the 1 253 cases diagnosed as autistic children from 2007 to 2011, there were 204 cases of metabolic disorders, 16.3% of the total.In the 204 cases, there were 35 kinds of metabolic diseases. Conclusions The relationship between autism and metabolic disorders is positive.The most ten sensitive metabolic disorders aredouble carboxylic acid urine ketone sex, mild ketone double carboxylic acid urine, mild ketonuria urine, high lactose and galactose, mild non-ketogenic dicarboxylic acid in urine, high lysine, high cysteine, high methylmalonic acid and methylmalonic acidemia, high tetrathydroxy phenyllactic acid, high tris hydroxyacid, and tetrahydroxy phenylpyruric acid.For some treatable metabolic disorders, the rehabilitation efficacy may be improved to the children with autism by metabolic diseases treatment at the same time of rehabilitation training.