中国天使综合征队列中吞咽困难的评估：一项观察性研究。
Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.
作者信息
Chen Yumeng, Wang Yanna, Zhang Yi, Wang Jun, Du Xiaonan, Wang Tianqi, Wang Yi, Zhou Hao
机构信息
Department of Rehabilitation, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Department of Clinical Epidemiology and Clinical Trial Unit, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
出版信息
CNS Neurosci Ther. 2025 Aug;31(8):e70587. doi: 10.1111/cns.70587.
AIMS
This study aims to identify the prevalence and risk factors of dysphagia in a Chinese cohort of Angelman syndrome (AS).
METHODS
A structured questionnaire was used to assess the status of patients in a Chinese cohort of AS. Swallowing function was evaluated using the Pediatric Eating Assessment Tool-10, with gastrointestinal symptoms quantified via the Six-item Gastrointestinal Severity Index (6-GSI). To identify potential risk factors, univariable and multivariate logistic regression was performed.
RESULTS
Among 490 patients with AS (median 6 years, interquartile range 4 years), the molecular subtypes of 75.7% of cases were deletions of 15q11-q13. The prevalence of dysphagia reached 56.1%. Patients with dysphagia exhibited lower BMI values compared to nondysphagia cases (15.31 ± 2.87 vs. 15.92 ± 2.91 kg/m, p = 0.021). Multivariate logistic regression analysis identified that uniparental paternal disomy (UPD) was associated with lower odds of dysphagia compared with deletions of 15q11-q13 (OR = 0.34, p = 0.016). Comorbid sleep disorders (OR = 1.79, p = 0.007), gastrointestinal disorders (OR = 1.89, p = 0.003), and increased 6-GSI scores (OR = 1.16, p = 0.044) showed associations with higher odds of dysphagia.
CONCLUSIONS
Over half of Chinese patients with AS experience dysphagia, with UPD moderating risk and comorbidities amplifying susceptibility.
目的
本研究旨在确定中国天使综合征（AS）队列中吞咽困难的患病率及危险因素。
方法
采用结构化问卷评估中国AS队列中患者的状况。使用儿童饮食评估工具-10评估吞咽功能，通过六项胃肠道严重程度指数（6-GSI）对胃肠道症状进行量化。为确定潜在危险因素，进行单变量和多变量逻辑回归分析。
结果
在490例AS患者中（中位数6岁，四分位间距4岁），75.7%的病例分子亚型为15q11-q13缺失。吞咽困难的患病率达到56.1%。与无吞咽困难的病例相比，吞咽困难患者的BMI值较低（15.31±2.87 vs. 15.92±2.91kg/m²，p=0.021）。多变量逻辑回归分析确定，与15q11-q13缺失相比，单亲二体性（UPD）与吞咽困难的较低几率相关（OR=0.34，p=0.016）。合并睡眠障碍（OR=1.79，p=0.007）、胃肠道疾病（OR=1.89，p=0.003）和6-GSI评分升高（OR=1.16，p=0.044）与吞咽困难的较高几率相关。
结论
超过半数的中国AS患者存在吞咽困难，UPD降低风险，合并症增加易感性。
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