PDF(Pubmed)
Abstract：
Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in studies into the genetic aetiology of DD/ID, with a dearth of data from Africa. This systematic review aimed to comprehensively describe the current knowledge from the African continent on this topic. Method: Applicable literature published up until July 2021 was retrieved from PubMed, Scopus and Web of Science databases, following PRISMA guidelines, focusing on original research reports on DD/ID where African patients were the focus of the study. The quality of the dataset was assessed using appraisal tools from the Joanna Briggs Institute, whereafter metadata was extracted for analysis. Results: A total of 3,803 publications were extracted and screened. After duplicate removal, title, abstract and full paper screening, 287 publications were deemed appropriate for inclusion. Of the papers analysed, a large disparity was seen between work emanating from North Africa compared to sub-Saharan Africa, with North Africa dominating the publications. Representation of African scientists on publications was poorly balanced, with most research being led by international researchers. There are very few systematic cohort studies, particularly using newer technologies, such as chromosomal microarray and next-generation sequencing. Most of the reports on new technology data were generated outside Africa. Conclusion: This review highlights how the molecular epidemiology of DD/ID in Africa is hampered by significant knowledge gaps. Efforts are needed to produce systematically obtained high quality data that can be used to inform appropriate strategies to implement genomic medicine for DD/ID on the African continent, and to successfully bridge healthcare inequalities.
摘要：
目标：遗传变异导致很大一部分发育障碍和智力障碍（DD/ID），但是临床和遗传异质性使得鉴定具有挑战性。使问题更加复杂的是，在对DD/ID的遗传病因的研究中缺乏种族多样性，缺乏来自非洲的数据。这篇系统的综述旨在全面描述非洲大陆关于这一主题的最新知识。方法：从PubMed检索截至2021年7月发表的适用文献，Scopus和WebofScience数据库,遵循PRISMA准则，重点关注以非洲患者为研究重点的DD/ID原始研究报告。使用JoannaBriggs研究所的评估工具评估了数据集的质量，然后提取元数据进行分析。结果:共提取和筛选出版物3803篇。重复删除后，title,摘要和全文筛选，287份出版物被认为适合列入。在分析的论文中，与撒哈拉以南非洲相比，北非的工作差距很大，北非主导着出版物。非洲科学家在出版物上的代表性不均衡，大多数研究都是由国际研究人员领导的。很少有系统的队列研究，特别是使用新技术，如染色体微阵列和下一代测序。大多数关于新技术数据的报告是在非洲以外产生的。结论：这篇综述强调了非洲DD/ID的分子流行病学如何受到重大知识差距的阻碍。需要努力产生系统获得的高质量数据，这些数据可用于为在非洲大陆实施DD/ID的基因组医学提供适当的策略，并成功弥合医疗保健不平等。
