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分析11种先天性出生缺陷亚型的全球负担:1990年至2021年的趋势、社会人口统计学关联因素及结局

Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021.

作者信息

Yang Enhui, Chen Feng, Zhang Yuansi, Lin Hao, Yang Yang, Huang Xiufeng, Zheng Wenjie, Zhang Yu, Chu Maoping, Rong Xing

机构信息

Department of Child Healthcare, Wenzhou People's Hospital, Wenzhou, China.

Children's Heart Center, Institute of Cardiovascular Development and Translational Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.

出版信息

Ann Med. 2025 Dec;57(1):2519686. doi: 10.1080/07853890.2025.2519686. Epub 2025 Jun 17.

Abstract

BACKGROUND

Congenital birth defects (CBDs) significantly affect child mortality and disability worldwide, yet regional understandings of their burden and contributing factors remain poorly defined. This study examines global trends in prevalence, disability-adjusted life years (DALYs), and mortality related to CBDs and their 11 subtypes from 1990 to 2021.

METHODS

Employing data from the Global Burden of Disease Study 2021, this cross-sectional analysis covers CBD prevalence, mortality, and DALYs among children aged 0-14 years. It also investigates relationships between these trends and the Socio-Demographic Index (SDI), employing advanced statistics like Joinpoint regression and heatmap analyses to elucidate geographic variations.

RESULTS

From 1990 to 2021, global trends in CBD prevalence, mortality, and DALYs generally decreased. The neonatal period (<28 days) presented the highest risk, with notable prevalence, mortality, and DALY rates. Among the 11 subtypes, congenital musculoskeletal and limb anomalies were most prevalent, while Turner syndrome was least common. Congenital heart anomalies recorded the highest mortality and DALYs. There was a negative correlation between CBD burden and SDI.

CONCLUSION

The study underscores the global impact of CBDs on child health, pointing to significant regional disparities linked to socioeconomic factors. The findings advocate for enhanced prevention and management strategies specifically designed for regions with lower SDIs.

摘要

背景

先天性出生缺陷(CBDs)在全球范围内对儿童死亡率和残疾状况有重大影响,但对其负担和促成因素的区域认识仍不明确。本研究调查了1990年至2021年期间与CBDs及其11种亚型相关的患病率、残疾调整生命年(DALYs)和死亡率的全球趋势。

方法

利用全球疾病负担研究2021年的数据,这项横断面分析涵盖了0至14岁儿童的CBD患病率、死亡率和DALYs。它还研究了这些趋势与社会人口指数(SDI)之间的关系,采用了连接点回归和热图分析等先进统计方法来阐明地理差异。

结果

从1990年到2021年,CBD患病率、死亡率和DALYs的全球趋势总体呈下降趋势。新生儿期(<28天)风险最高,患病率、死亡率和DALY率都很显著。在11种亚型中,先天性肌肉骨骼和肢体异常最为普遍,而特纳综合征最不常见。先天性心脏异常的死亡率和DALYs最高。CBD负担与SDI之间存在负相关。

结论

该研究强调了CBDs对儿童健康的全球影响,指出了与社会经济因素相关的显著区域差异。研究结果提倡针对SDI较低地区制定强化预防和管理策略。

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