目的: 比较孤独症儿童与健康儿童血浆中缬氨酸水平的差异, 并探究孤独症儿童血浆缬氨酸水平与其发育商评分的相关性。方法: 共招募29例孤独症儿童作为病例组, 同期招募30例同年龄段的正常儿童作为对照组。采用儿童孤独症评定量表(childhood autism rating scale, CARS)对孤独症儿童的核心症状及其严重程度进行评估, 采用Gesell发育量表(Gesell developmental schedules, GDS)评估儿童发育商, 采用高效液相色谱-串联质谱法测定血浆缬氨酸水平, 并比较两组间差异, 分析病例组儿童血浆缬氨酸水平与其发育商评分间的相关性。结果: 与对照组相比, 孤独症组血浆缬氨酸水平显著偏低, 差异有统计学意义(P＜0.05)。在GDS量表因子得分方面, 孤独症组儿童在适应性、大运动、精细运动、语言、个人-社交等方面的得分均显著低于对照组儿童, 差异均有统计学意义(P＜0.000 1)。孤独症组儿童血浆缬氨酸水平与GDS量表中的精细运动评分(r=0.441, P＜0.05)和个人-社交评分(r=0.437, P＜0.05)均呈显著正相关, 但与适应性、大运动和语言方面的评分无显著相关(P>0.05)。根据CARS量表评分标准, 将孤独症组儿童根据病情严重程度分为轻中度和重度两个亚组, 在亚组之间进行比较发现, 重度孤独症儿童在GDS量表适应性、精细运动、语言以及个人-社交方面的评分均显著低于轻中度孤独症儿童(P＜0.05), 而两个亚组之间在GDS量表大运动评分及血浆缬氨酸水平方面差异均无统计学意义(P>0.05)。结论: 孤独症儿童血浆中缬氨酸水平偏低, 且与其精细运动和个人-社交功能之间存在一定关联。

Objective: To compare the differences of plasma valine level between autistic and healthy children, and to explore the relationship between plasma valine level and developmental quotient in children with autism. Methods: In this study, a total of 29 autistic children and 30 typically developing children of the same age range were recruited as the autistic group and the control group. The childhood autism rating scale (CARS) was used to assess autistic core symptoms and severity in the autistic children. Children's developmental quotient was evaluated by Gesell developmental schedules (GDS), and plasma valine level was measured by high performance liquid chromatography-tandem mass spectrometry. The correlation between plasma valine level and developmental quotient scores in the autistic group was analyzed. Results: The plasma level of valine in the autism group was significantly lower than in the control group (P < 0.05). Children in the autism group got significantly lower scores in the adaption, gross motor, fine motor, language function and personal/social function subscales in GDS than in the control group (P < 0.000 1). Plasma valine level in the autism group showed significant positive correlations with scores of the fine motor (r=0.441, P < 0.05) and personal/social function (r=0.437, P < 0.05) subscales in GDS, but showed no significant correlations with scores of the adaption, gross motor and language function subscales in GDS (P>0.05). According to the criteria of CARS, children in the autism group were subdivided into the mild to moderate subgroup and the severe subgroup based on the severity of the autistic symptoms. Compared with children in the mild to moderate subgroup, children in the severe subgroup got significantly lower scores in the adaption, fine motor, language function and personal/social function subscales in GDS (P < 0.05), while there was no significant difference between the two subgroups in gross motor scores and plasma valine level (P>0.05). Conclusion: The level of valine in plasma of autistic children is relatively lower, and there is a certain relationship between plasma valine level and the fine movement and personal/social function among children with autism.