摘要全面发育落后和智力障碍（global developmental delay/intellectual disability，GDD/ID）是一大类具有高度临床和遗传异质性的神经发育障碍性疾病。GDD/ID全球患病率1%~3%，预计累及1.5亿患者，是全球儿童主要致残原因之一。GDD/ID病因复杂，涉及遗传和环境等多种因素，临床表现复杂多样，异质性强，常共患孤独症谱系障碍、注意缺陷多动障碍等多种精神行为障碍。得益于遗传学检测手段的进展，单基因所致的GDD/ID一直是后基因组时代的研究热点之一，且相关的预防措施也值得广泛关注。本文对单基因GDD/ID的遗传研究和预防进展进行介绍。

abstractsGlobal developmental delay/intellectual disability (GDD/ID) is an enormous group of neurodevelopmental disorders with diverse clinical and genetic heterogeneity. The estimated prevalence of GDD/ID was 1%-3%, affecting about 150 million people. GDD/ID is one of the leading causes of disability in children worldwide. The causes of GDD/ID are complex, comprising genetic and environmental factors. It is often co-morbid with a variety of psychiatric behavioral disorders, such as autism spectrum disorder and attention deficit hyperactivity disorder. Owing to the improvement of genetic technology, monogenic GDD/ID has been one of the hot-spot research in genomic era, and the relevant preventive measures deserve extensive attention. In this review, we summarized the advances in genetics and prevention of monogenic GDD/ID.