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目的对孤独症儿童进行脆性位点精神发育迟滞1(FMR-1)基因检测,探讨儿童孤独症与FMR-1基因的关系。方法孤独症患儿75例。用一般情况调查表进行调查,以儿童孤独症评定量表、孤独症行为检查量表筛查可疑患儿,按照中国精神障碍分类与诊断标准第3版(CCMD-3)的儿童孤独症诊断标准进行诊断和FMR-1基因检测。结果孤独症患儿FMR-1基因异常率极低,仅1.3%。结论儿童孤独症遗传学发病机制可能与FMR-1基因无关。
Objective To detect FMR-1 gene polymorphism in children with autism and to explore the relationship between autism and FMR-1 gene in children. Methods 75 cases of children with autism. According to the questionnaire survey of children with autism, autism children’s autism assessment scale and autism behavioral check-up scale were used to screen suspicious children. According to the diagnostic criteria of autism of children with CCMD-3 (China Classification of Psychiatric Disorders and Diagnostic Criteria, 3rd edition) Diagnostic and FMR-1 gene tests were performed. Results The abnormal rate of FMR-1 gene in children with autism was very low, only 1.3%. Conclusion The genetic mechanism of autism in children may not be related to FMR-1 gene.