孤独症谱系障碍队列研究进展的概括性评价

Scoping review of progress in cohort studies of autism spectrum disorder

目的了解孤独症谱系障碍(ASD)队列研究现状,探讨基于真实世界数据(RWD)构建ASD专病队列的可行性。方法检索、筛选主要中英文数据库中截至2022年12月发表的ASD队列研究,归纳ASD队列研究特点。结果共纳入ASD队列研究1702篇,我国仅有60项(3.53%)。筛选出ASD相关队列163个,其中55.83%为出生队列,28.22%为ASD专病队列,4.91%为ASD高危人群队列;多数队列利用医院注册登记等RWD或开展社区现场调查获取研究对象信息,并通过量表或临床诊断确认ASD患者。研究内容包括ASD发生及预后相关危险因素研究、ASD共病模式研究及ASD对自身其他健康状况和对子代健康影响的研究。结论目前发达国家ASD队列研究全面丰富,我国仍处于起步阶段。RWD为ASD专病队列构建提供了数据基础,也带来了研究的新机遇,但仍需开展病例验证等工作保证队列建设的科学性。

Objective To understand the status of autism spectrum disorder(ASD)cohort studies and explore the feasibility of constructing ASD disease-specific cohorts based on real-world data(RWD).Methods ASD cohort studies published by December 2022 were collected by literature retrieval from major Chinese and English databases.And the characteristics of the cohort were summarized.Results A total of 1702 ASD cohort studies were included,and only 60(3.53%)were from China.A total of 163 ASD-related cohorts were screened,of which 55.83%were birth cohorts,28.22%were ASD-specific cohorts,and 4.91%were ASD high-risk cohorts.Most cohorts used RWD such as hospital registries or conducted community-based field surveys to obtain participant information and identified patients with ASD by scales or clinical diagnoses.The contents of the studies included ASD incidence and prognostic risk factors,ASD comorbidity patterns and the impact of ASD on self-health and their offspring's health.Conclusions ASD cohort studies in developed countries have been in the advanced stage,while the Chinese studies are still in their infancy.RWD provides the data basis for ASD-specific cohort construction and offers new opportunities for research,but work such as case validation is still needed to ensure the scientific nature of cohort construction.