Objectives: Congenital birth defects are the main source of disease burden among children under 5 years old in China. This study aims to compare the trends in disease burden of different congenital birth defects among Chinese children under 5 years old from 1990 to 2019, and to provide a scientific basis for strengthening the comprehensive prevention and control of birth defects.
Methods: Based on data from the Global Burden Disease (GBD) in 2019, the incidence mortality rate, and disability-adjusted life years (DALYs) rate of congenital birth defects among Chinese children under 5 years old from 1990 to 2019 were selected as evaluation indicators. The Joinpoint regression model was used to analyze the trends in disease burden of different types with congenital birth defects over three decades. The study also compared the differences in disease burden of congenital birth defects among children under 5 years old by gender.
Results: Compared to 1990, the DALYs rates of congenital heart anomalies (1 931.91/100 000), digestive congenital anomalies (364.63/100 000), neural tube defects (277.20/100 000), congenital musculoskeletal and limb anomalies (133.33/100 000), and Down syndrome (128.22/100 000) in children under 5 years old in China in 2019 were decreased 70.78%, 71.61%, 86.21%, 36.84% and 73.65%, respectively. From 1990 to 2019, the mortality rates and DALYs rates of different congenital birth defects showed an overall downward trend, but the incidence of digestive congenital anomalies and Down syndrome showed an upward trend after 2005 and 2001, respectively. Except for congenital musculoskeletal and limb anomalies, incidence of the remaining categories of birth defects were higher in boys than that in girls.
Conclusions: The disease burden of congenital birth defects in children under 5 years old in China is decreased substantially from 1990 to 2019, but the burden of congenital heart anomalies is still serious and the incidence of some birth defect diseases is on the rise, and it is still crucial to strengthen the prevention and treatment for birth defects in children and propose targeted measures according to their gender characteristics.
目的: 先天性出生缺陷是中国5岁以下儿童疾病负担的主要来源。本研究旨在通过分析1990年至2019年间中国5岁以下儿童不同先天性出生缺陷的疾病负担变化趋势，为加强出生缺陷综合防治提供科学依据。方法: 基于2019年全球疾病负担研究(global burden disease，GBD)数据库，选取1990年至2019年中国5岁以下儿童先天性出生缺陷的发病率、死亡率及伤残调整寿命年(disability-adjusted life year，DALYs)率作为评价指标，采用Joinpoint回归模型分析1990年至2019年30年间，不同类型先天性出生缺陷疾病负担的变化趋势，并按性别比较5岁以下儿童先天性出生缺陷疾病负担的差异。结果: 与1990年相比，2019年中国5岁以下儿童先天性心脏异常(1 931.91/10万)、先天性消化系统畸形(364.63/10万)、神经管畸形(277.20/10万)、先天性肌肉骨骼和肢体异常(133.33/10万)及唐氏综合征(128.22/10万)的DALYs率分别降低了70.78%、71.61%、86.21%、36.84%及73.65%。1990年至2019年，中国5岁以下儿童不同先天性出生缺陷的死亡率和DALYs率总体上均呈下降趋势，但先天性消化系统畸形和唐氏综合征的发病率分别在2005年和2001年后开始呈现逐渐上升趋势；除先天性肌肉骨骼和肢体异常外，其余几类出生缺陷的发病率均是男童高于女童。结论: 1990年至2019年中国5岁以下儿童先天性出生缺陷的疾病负担大幅度下降，但先天性心脏异常疾病负担仍很严重且有些出生缺陷的发病率有上升趋势，需继续加强儿童出生缺陷的防治并根据其性别特征提出针对性措施。.
Keywords: Joinpoint regression model; children under 5 years; congenital birth defects; disease burden.