Exploring the Relationship Between Fragile X Syndrome and Autism: A Bibliometric Analysis of Global Research Trends

Fragile X syndrome (FXS) is classified as a genetic disorder located in the fragile X messenger ribonucleoprotein-1 (FMR1) gene on the X chromosome. FXS is considered the most prevalent single-gene cause of intellectual disability and autism spectrum disorder (ASD). Understanding the complexity of FXS and ASD requires exploring the correlation between genetics, neuroscience, and behavioral science. This bibliometric analysis explores the data from 3,398 articles collected from the Web of Science database, focusing on FXS and ASD while relating it to the country, institution, keywords, and published data for each article. These publications were imported into VOSviewer to analyze authorship patterns, associated organizations, involved countries, and keywords. The Web of Science database provided graphical figures illustrating the number of publications over the past 25 years and the most prominent funding agencies. Treatments for ASD and FXS often overlap due to their shared characteristics and connections; however, despite numerous clinical trials, no effective treatments have been identified for either condition to date. Although multiple drugs showed potential in preclinical trials, they failed to improve symptoms during the later stages of the trials. This study aims to identify key trends, gaps, and networks with regard to current FXS and ASD research, providing insights to inform future research and the development of effective treatment modalities.