智力障碍的病因及诊断方法

Etiology and diagnosis of intellectual disability

摘要:

智力障碍是儿童常见的神经系统疾病, 人群中发病率为1%~3%。由于多种遗传和环境因素参与其发病过程, 获得明确的病因学诊断是一项充满挑战的工作, 但其对评估患者预后、指导患者治疗及再生育具有重要的意义。该文总结了智力障碍的遗传学病因研究进展及临床常用遗传学诊断方法, 并介绍了最近美国儿科学会发布的智力障碍遗传诊断流程。

Abstract:

Intellectual disability, occurring in 1%-3% of the general population, is a common disease of the nervous system in children. Since diverse genetic and environmental factors contribute to its pathogenesis, the etiological diagnosis of intellectual disability is challenging with respect to the selection of diagnostic tests. It is important to determine the etiology of intellectual disability for the assessment of prognosis, treatment and the family plan. This paper summarizes the research progress in etiology and diagnosis for intellectual disability and introduces the recommended clinical genetics diagnostic approach from the American Academy of Pediatrics.