Click here to read the full article by Areerat Hnoonual, Oradawan Plong-On, Duangkamol Tangviriyapaiboon, Chariyawan Charalsawadi, and Pornprot Limprasert.

For more information about FXS screening in Thailand, click here.

A new study on FXS in Thailand reviewed 30 years of research in the country with a sample size of 1480 patients referred for FXS DNA testing (1390 males and 90 females) between 1991 and 2021. Due to its analysis of a widespread sample of patients representing various regions and age groups in Thailand, the study has become one of very few projects to have successfully mapped the frequency of FXS in an Asian country.  

The authors highlight the disproportionate scales of research on FXS around the world, pointing out that projects reflect the frequency of FXS in Europe and the Americas, leaving Asia to rely on a relatively scarce resource of literature. The study emphasises a greater need for research in all Asian regions due to high genetic diversity among Asians.The frequency of  FX full mutations in Thai male patients was found to be comparable to those reported in South Asia, the Middle East, and Africa. However, determining patterns of frequency in females was much more difficult as very few females had been included in samples, given that despite the availability of FXS testing in Thailand for over 30 years, only a few female patients have been referred for diagnostic testing.

The study revealed several important points about the state of FXS diagnosis, testing, and care in Thailand. At the time this study was conducted, only 12 families had undergone genetic testing despite the availability of the service. The authors believe that low uptake of tests is due to limited availability of laboratories for testing, awareness and genetic counseling. An overarching theme of the study is the need for more education and awareness-building among families, calling for enhanced awareness of prenatal testing and genetic counseling for individuals living with FXS and their families and carers.