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

**Authors:** Alyson Kaplan, Sofia Malik, Nadiya A Persaud, Latha Ganti

PMC · DOI: 10.7759/cureus.88159 · Cureus · 2025-07-17

## TL;DR

This study uses bibliometric analysis to explore global research trends on Fragile X Syndrome and autism, highlighting connections and gaps in the field.

## Contribution

The novel contribution is a comprehensive bibliometric analysis of FXS and ASD research trends over 25 years.

## Key findings

- 3,398 articles were analyzed to identify research trends and gaps in FXS and ASD.
- The study reveals overlapping treatment approaches and challenges in developing effective therapies.
- Key trends, prominent countries, and institutions involved in FXS and ASD research were identified.

## Abstract

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.

## Linked entities

- **Genes:** FMR1 (fragile X messenger ribonucleoprotein 1) [NCBI Gene 2332]
- **Diseases:** Fragile X syndrome (MONDO:0010383), autism spectrum disorder (MONDO:0005258)

## Full-text entities

- **Genes:** FMR1 (fragile X messenger ribonucleoprotein 1) [NCBI Gene 2332] {aka FMRP, FRAXA, POF, POF1}
- **Diseases:** ASD (MESH:D000067877), intellectual disability (MESH:D008607), FXS (MESH:D005600), Autism (MESH:D001321), genetic disorder (MESH:D030342)

## Full text

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## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12357541/full.md

## References

21 references — full list in the complete paper: https://tomesphere.com/paper/PMC12357541/full.md

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Source: https://tomesphere.com/paper/PMC12357541