孤独症儿童及其Ⅰ级亲属血浆五羟色胺水平的对照研究

目的 通过测定儿童孤独症核心家系五羟色胺(5-HT)水平,探讨孤独症先证者及其Ⅰ级亲属的5-HT水平的家族聚集性特征.方法 采用高效液相色谱仪测定儿童孤独症组(38例)及其亲生父母组(61例)的5-HT水平,并与年龄和性别相匹配的正常儿童对照组(35例)及正常成人对照组(60例)的5-HT水平相比较.结果 ①儿童孤独症组的血浆5-HT水平为(212.51±127.98)μmol/L,显著高于正常儿童对照组(t=3.842,P=0.000);②孤独症父母组的血浆5-HT水平为(88.15±48.15)μmol/L,显著高于正常成人对照组(t=3.409,P=0.001).③儿童孤独症的病情严重程度与血浆5一HT水平两者之间无显著相关(r=0.142,P=0.041).④孤独症儿童组的血浆5-HT水平与孤独症儿童的父亲和母亲的血浆5-HT水平两者之间均存在显著相关(r=-0.498,P=0.000;r=-0.602,P=0.000).结论 儿童孤独症血浆5-HT增高并与遗传因素相关,可作为中间表型为孤独症遗传易感因子的研究提供线索.

A control study on plasma serotonin in autistic probands and their first degree relatives

Objective To investigate the familial aggregation of 5-HT level in parents of autistic probands. Methods In a sample of 38 autistic subjects and 61 of their parents,compared to age and sex matched controls. 5-HT were measured by HPLC. Results The level of 5-HT in autistic children was significant higher than the controls subjects(t=3.842, P = 0.000). The significant difference of 5-HT level between autism children parents and normal children parents was found(t = -3. 409, P = 0.001). The severity degree of autism was not significant related to the 5-HT level(r=0.142, P=0.041). The 5-HT level of autistic children was significant related to the 5-HT level of their parents (r= - 0.498, P =0. 000 ; r = -0.602, P = 0.000). Conclusion Elevated 5-HT level may be associated with genetic liability to autism and help the search of genetic suscepti-bility factors in autism.