女性FMR1前突变携带者的吞咽症状：进食评估工具-10结果及其与遗传和FXTAS相关特征的关联
Swallowing Symptoms in Female FMR1 Premutation Carriers: Eating Assessment Tool-10 Findings and Associations With Genetic and FXTAS-Related Features.
文献信息
| PMID | 42932422 |
|---|---|
| 原文 | 在 PubMed 查看原文 ↗ |
| 发表日期 | 2026 |
| 作者 | Sarah Reviel |
| 作者单位 | Communication Sciences and Disorders, Arnold School of Public Health, University of South Carolina, Columbia, SC. |
| 期刊 | American journal of speech-language pathology |
| SCI 分区 | Q1 |
| IF | 3.3 |
| 研究类型 | 临床研究 · 临床 |
| 所属专科 | 咽喉科 |
中文摘要
目的： 脆性X信使核糖核蛋白1（FMR1）前突变（FXpm）是一种常见的遗传变异，可增加与脆性X相关震颤/共济失调综合征（FXTAS）相关的神经退行性运动障碍风险。吞咽困难在FXpm携带者中可能更为常见，但仍研究不足。本研究探讨FXpm女性的吞咽症状及其与FXTAS相关运动症状和FMR1相关遗传变异的关联。
方法： 参与者（85名FXpm女性，73名对照）完成了进食评估工具-10和FXTAS评定量表修订版。遗传指标包括胞嘧啶-鸟嘌呤-鸟嘌呤重复长度、激活比率和重复大小嵌合现象。采用障碍模型评估组间在症状认可和严重程度上的差异。检查了条目水平的差异，并使用逻辑回归和探索性相关性分析吞咽症状认可、运动评分和遗传指标之间的关联。
结果： FXpm女性比对照更可能认可吞咽症状，尤其是在较低教育水平下（OR = 0.68，95%置信区间[CI；0.49，0.93]，p = .017）。费力吞咽固体食物和食物粘在喉咙是组间最强的条目水平区分因素。帕金森样运动特征（OR = 1.29，95% CI [1.04，1.59]，p = .022）和前突变/全突变（PM/FM）嵌合现象（OR = 7.72，95% CI [1.12，53.30]，p = .038）与更高的症状认可可能性相关。
结论： 研究结果表明，部分FXpm女性，尤其是教育程度较低和存在PM/FM嵌合现象者，经历更高的吞咽症状负担，这可能反映运动系统受累的早期表现。该人群的吞咽症状值得更多临床关注，需要进一步研究整合全面的吞咽评估，以阐明FXpm女性吞咽症状的性质、进展和临床意义。
英文摘要
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.