Advances in genetics and prevention of monogenic global developmental delay and intellectual disability
10.3760/cma.j.cn113903-20230107-00009
- VernacularTitle:单基因相关全面发育落后和智力障碍的遗传学研究及预防进展
- Author:
Liling LIN
1
;
Hong PAN
;
Yinan MA
;
Yu QI
Author Information
1. 北京大学第一医院实验中心，北京 100034
- Keywords:
Developmental disabilities;
Intellectual disability;
Genetic diseases, inborn;
Genetic heterogeneity
- From:
Chinese Journal of Perinatal Medicine
2023;26(6):514-518
- CountryChina
- Language:Chinese
-
Abstract:
Global 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.
