Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study

IF 5 1区医学 Q1 NEUROSCIENCES

CNS Neuroscience & Therapeutics Pub Date : 2025-08-25 DOI:10.1111/cns.70587

Yumeng Chen, Yanna Wang, Yi Zhang, Jun Wang, Xiaonan Du, Tianqi Wang, Yi Wang, Hao Zhou

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Abstract

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/m², 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.

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中国Angelman综合征患者吞咽困难的评估：一项观察性研究

目的本研究旨在了解中国Angelman综合征（AS）患者中吞咽困难的患病率及其危险因素。方法采用结构化调查问卷对中国AS队列患者的状态进行评估。吞咽功能使用儿科饮食评估工具-10进行评估，胃肠症状通过六项胃肠严重程度指数（6-GSI）进行量化。为了确定潜在的危险因素，进行了单变量和多变量logistic回归。结果490例AS患者（中位6年，四分位间距4年）中，75.7%的病例分子亚型为15q11-q13缺失。吞咽困难的发生率为56.1%。与非吞咽困难患者相比，吞咽困难患者的BMI值较低（15.31±2.87比15.92±2.91 kg/m2, p = 0.021）。多因素logistic回归分析发现，与15q11-q13基因缺失相比，单亲父本二体（UPD）与吞咽困难的发生率较低（OR = 0.34, p = 0.016）。共病性睡眠障碍（OR = 1.79, p = 0.007）、胃肠疾病（OR = 1.89, p = 0.003）和6-GSI评分升高（OR = 1.16, p = 0.044）与吞咽困难的发生率升高相关。结论：超过一半的中国AS患者经历吞咽困难，UPD降低了风险，合并症增加了易感性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

CNS Neuroscience & Therapeutics 医学-神经科学

CiteScore

7.30

自引率

12.70%

发文量

240

审稿时长

2 months

期刊介绍： CNS Neuroscience & Therapeutics provides a medium for rapid publication of original clinical, experimental, and translational research papers, timely reviews and reports of novel findings of therapeutic relevance to the central nervous system, as well as papers related to clinical pharmacology, drug development and novel methodologies for drug evaluation. The journal focuses on neurological and psychiatric diseases such as stroke, Parkinson’s disease, Alzheimer’s disease, depression, schizophrenia, epilepsy, and drug abuse.