Wang Kang, Duan Weicheng, Duan Yijie, Yu Yuxin, Chen Xiuyi, Xu Yinhui, Chen Haihong, Huang Hongzhi, Xiong Bo
Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
The First Clinical College, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Brain Sci. 2020 Dec 31;11(1):33. doi: 10.3390/brainsci11010033.
Autism spectrum disorder (ASD) cases have increased rapidly in recent decades, which is associated with various genetic abnormalities. To provide a better understanding of the genetic factors in ASD, we assessed the global scientific output of the related studies. A total of 2944 studies published between 1997 and 2018 were included by systematic retrieval from the Web of Science (WoS) database, whose scientific landscapes were drawn and the tendencies and research frontiers were explored through bibliometric methods. The United States has been acting as a leading explorer of the field worldwide in recent years. The rapid development of high-throughput technologies and bioinformatics transferred the research method from the traditional classic method to a big data-based pipeline. As a consequence, the focused research area and tendency were also changed, as the contribution of de novo mutations in ASD has been a research hotspot in the past several years and probably will remain one into the near future, which is consistent with the current opinions of the major etiology of ASD. Therefore, more attention and financial support should be paid to the deciphering of the de novo mutations in ASD. Meanwhile, the effective cooperation of multi-research centers and scientists in different fields should be advocated in the next step of scientific research undertaken.
近几十年来,自闭症谱系障碍(ASD)病例迅速增加,这与各种基因异常有关。为了更好地理解ASD中的遗传因素,我们评估了相关研究的全球科学产出。通过从科学网(WoS)数据库进行系统检索,共纳入了1997年至2018年间发表的2944项研究,绘制了其科学图景,并通过文献计量学方法探索了研究趋势和前沿。近年来,美国一直是该领域全球领先的探索者。高通量技术和生物信息学的快速发展将研究方法从传统的经典方法转变为基于大数据的流程。因此,重点研究领域和趋势也发生了变化,因为新发突变在ASD中的作用在过去几年一直是研究热点,并可能在不久的将来仍将是热点之一,这与目前对ASD主要病因的看法一致。因此,应更加关注并提供资金支持来解读ASD中的新发突变。同时,在接下来的科研工作中应倡导多研究中心和不同领域科学家的有效合作。