Swallowing Symptoms in Female
                    <i>FMR1</i>
                    Premutation Carriers: Eating Assessment Tool-10 Findings and Associations With Genetic and FXTAS–Related Features

doi:10.1044/2026_ajslp-26-00166

DOI: 10.1044/2026_ajslp-26-00166 ISSN: 1058-0360

Swallowing Symptoms in Female FMR1 Premutation Carriers: Eating Assessment Tool-10 Findings and Associations With Genetic and FXTAS–Related Features

Sarah Reviel, Thomas R. Christensen, Federico Rodriguez-Porcel, Christine Cooper, Elizabeth Berry-Kravis, Michelle H. S. Tosin, Deborah A. Hall, Amanda Fairchild, Heather Shaw Bonilha, Jessica Klusek

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Purpose:

The fragile X messenger ribonucleoprotein 1 ( FMR1 ) premutation (FXpm) is a prevalent genetic variant that confers risk for neurodegenerative motor impairments associated with fragile X–associated tremor/ataxia syndrome (FXTAS). Swallowing difficulties may be more common in FXpm carriers but remain understudied. This study investigates swallowing symptoms in FXpm women and their associations with FXTAS-related motor symptoms and FMR1 -related genetic variation.

Method:

Participants (85 FXpm women, 73 controls) completed the Eating Assessment Tool–10 and the FXTAS Rating Scale–Revised. Genetic measures included cytosine-guanine-guanine repeat length, activation ratio, and repeat size mosaicism. Hurdle models assessed group differences in symptom endorsement and severity. Item-level differences were examined, along with associations between swallowing symptom endorsement, motor scores, and genetic measures using logistic regression and exploratory correlations.

Results:

FXpm women were more likely to endorse swallowing symptoms than controls, particularly at lower education levels ( OR = 0.68, 95% confidence interval [CI; 0.49, 0.93], p = .017). Effort swallowing solids and food sticking in the throat were the strongest item-level differentiators of the groups. Parkinsonian motor features ( OR = 1.29, 95% CI [1.04, 1.59], p = .022) and premutation/full mutation (PM/FM) mosaicism ( OR = 7.72, 95% CI [1.12, 53.30], p = .038) were associated with higher likelihood of symptom endorsement.

Conclusions:

Findings suggest that some FXpm women, particularly those with lower educational attainment and PM/FM mosaicism, experience elevated swallowing symptom burden, which may reflect early manifestations of motor system involvement. Swallowing symptoms warrant greater clinical attention in this population, with further research integrating comprehensive swallowing assessments needed to clarify the nature, progression, and clinical significance of swallowing symptoms in FXpm women.

Supplemental Material:

https://doi.org/10.23641/asha.34750941