孤独症谱系障碍儿童丘脑和小脑磁共振波谱特征和临床关系的前瞻性研究

Magnetic resonance spectroscopy features of the thalamus and the cerebellum and their association with clinical features in children with autism spectrum disorder: a prospective study

摘要:

目的 探究孤独症谱系障碍（autism spectrum disorder，ASD）儿童丘脑和小脑生化代谢物指标变化及与临床特征的关系。 方法 前瞻性采用磁共振波谱（magnetic resonance spectroscopy，MRS）单体素点分辨率波谱序列对50名2~6岁的ASD儿童双侧丘脑和小脑进行分析，以肌酸（creatine，Cr）为内标测定代谢物N-乙酰天冬氨酸（N-acetylaspartate，NAA）/Cr、胆碱（cholin，Cho）/Cr、肌醇（myoinositol，MI）/Cr、谷氨酸复合物（glutamine and glutamate complex，Glx）/Cr的相对值，比较各代谢物的差异和临床症状之间的关系。 结果 ASD儿童左侧丘脑NAA/Cr与Griffiths发育评估量表中文版中听力-语言和手眼协调评分呈正相关（P<0.05）；右侧小脑Cho/Cr与个人-社交、听力-语言、手眼协调呈正相关（P<0.05）；左侧丘脑和左侧小脑的NAA/Cr呈正相关，左侧丘脑和左侧小脑的Glx/Cr呈正相关（P<0.05）。ASD儿童丘脑和小脑部位左右两侧代谢物之间相比差异无统计意义（P>0.05）。 结论 ASD儿童小脑、丘脑存在代谢紊乱，且左侧小脑和左侧丘脑代谢物改变之间存在关联，部分指标与ASD临床症状相关。MRS可能揭示了ASD的病理基础并为其诊断、预后评估提供无创、定量检测方法。

Abstract:

Objective To study the changes in biochemical metabolites in the thalamus and the cerebellum and their association with clinical features in children with autism spectrum disorder (ASD). Methods In this prospective study, magnetic resonance spectroscopy (MRS) with point-resolved spatial selection was used to analyze the thalamus and the cerebellum at both sides in 50 children with ASD aged 2-6 years. Creatine (Cr) was as the internal standard to measure the relative values of N-acetylaspartate (NAA)/Cr, choline (Cho)/Cr, myoinositol (MI)/Cr, and glutamine and glutamate complex (Glx)/Cr, and the differences in metabolites and their association with clinical symptoms were compared. Results In the children with ASD, NAA/Cr in the left thalamus was positively correlated with the scores of hearing-language and hand-eye coordination in the Griffiths Development Scales-Chinese (P<0.05). Cho/Cr in the right cerebellum was positively correlated with the scores of personal-social competence, hearing-language, and hand-eye coordination (P<0.05). NAA/Cr and Glx/Cr in the left thalamus were positively correlated with those in the left cerebellum (P<0.05). There was no significant difference in metabolites between the left and right sides of the thalamus and the cerebellum in the children with ASD (P>0.05). Conclusions There are metabolic disorders in the cerebellum and the thalamus in children with ASD, and there is a correlation between the changes of metabolites in the left cerebellum and the left thalamus. Some metabolic indexes are related to the clinical symptoms of ASD. MRS may reveal the pathological basis of ASD and provide a basis for diagnosis and prognosis assessment of ASD as a noninvasive and quantitative detection method.