A new publication from our team highlights an understudied aspect of health in women with the FMR1 premutation: swallowing difficulties. 

Published in the American Journal of Speech-Language Pathology, this paper brings together expertise in swallowing from USC’s Department of Communication Sciences and Disorders and our lab’s expertise in the FMR1 premutation. The study was led by Sarah Reviel, a PhD student mentored by Dr. Heather Shaw Bonilha, with contributions from our lab’s PhD student Thomas Christensen and Dr. Jessica Klusek, alongside collaborators from other institutions. 

The researchers examined self-reported swallowing symptoms in 85 women with the premutation and 73 women without the premutation, aged 43–81. Women with the premutation more often reported that swallowing solid foods took extra effort or that food felt stuck in their throat. The findings also suggested that swallowing concerns may vary with FXTAS-related movement symptoms, genetic characteristics, and educational background, although more research is needed to understand these relationships. 

This study offers an early step toward understanding swallowing concerns in women with the premutation — an area that has received relatively little research attention. Because the findings reflect questionnaire responses collected at one time point, future research using clinical swallowing assessments and following women over time will help clarify what these symptoms mean and how they may change. 

Thank you to the women who participated and made this research possible! 

You can read the article here: https://pubs.asha.org/doi/10.1044/2026_AJSLP-26-00166  

 , , , , , ,