智力障碍的病因及诊断方法.pdfVIP

第 17 卷 第 6 期 中国当代儿科杂志 Vol.17 No.6 2015 年 6 月 Chin J Contemp Pediatr Jun. 2015 doi: 10.7499/j.issn.1008-8830.2015.06.002 神经系统疾病专题·讲座 智力障碍的病因及诊断方法 杨璞　桂宝恒　邬玲仟 （中南大学生命科学学院医学遗传学国家重点实验室，湖南 长沙　410078） ［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。 ［中国当代儿科杂志，2015，17（6）：543-548］ ［关键词］　智力障碍；病因；诊断；儿童 Etiology and diagnosis of intellectual disability YANG Pu, GUI Bao-Heng, WU Ling-Qian. State Key Laboratory of Medical Genetics, School of Sciences, Central South University, Changsha 410078, China (Wu L-Q, Email: wulingqian@) 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. [Chin J Contemp Pediatr, 2015, 17(6): 543-548] Key words: Intellectual disability; Etiology; Diagnosis; Child 1　智力