A bibliometric analysis of Prader-Willi syndrome from 2002 to 2022

Prader-Willi Syndrome (PWS) is a rare disorder that was initially documented by Prader and Willi in 1956. Despite significant advancements in the understanding of PWS over recent decades, no bibliometric studies have been reported on this field. We aimed to analyze and explore the research trends and hotspots of PWS using a bibliometric analysis to understand the future development of basic and clinical research.

The literature regarding PWS was retrieved from the Web of Science Core Collection Science Citation Index Expanded (SCI-Expanded) database. Data were extracted from the articles or review articles, and analyzed using CiteSpace and VOSviewer software.

A total of 1,895 related studies have been published in 64 countries or regions. The United States has published the most articles, followed by the United Kingdom, Italy, Netherlands, and France. University of Florida (The United States), University of Kansas (The United States), University of Alberta (Canada), University of Cambridge (the United Kingdom), and Dutch Growth Research Foundation (Netherlands) were the top five most productive institutions. Butler, Merlin G. and his colleagues have made the most outstanding contributions in the field of PWS research. Keyword co-occurrence analysis showed that genomic imprinting, uniparental disomy, obesity, hyperphagia, hypothalamus, growth hormone treatment, and ghrelin appeared with the higher frequency. Furthermore, oxytocin, magel2, and management were the latest bursts keywords.

Our findings indicated that genetic mechanism, diagnose, and emerging therapies will be the hotspots and frontiers in PWS research.