Journal Article

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

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

2025

Overview

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. In Chinese cohort of Angelman syndrome (AS), the prevalence of dysphagia reached 56.1%, with uniparental paternal disomy associated with lower odds of dysphagia. Comorbid sleep disorders and gastrointestinal disorders, as well as higher scores on 6‐GSI, were linked to increased odds of dysphagia.

• Publisher: John Wiley & Sons, Inc,John Wiley and Sons Inc
• Subject: Adolescent / Age / Angelman syndrome / Angelman Syndrome - complications / Angelman Syndrome - epidemiology / Angelman Syndrome - genetics / Angelman's syndrome / Caregivers / Child / Child, Preschool / China - epidemiology / Cohort Studies / Comorbidity / Constipation / Convulsions & seizures / Data collection / Deglutition Disorders - diagnosis / Deglutition Disorders - epidemiology / Deglutition Disorders - etiology / Deglutition Disorders - genetics / Dysphagia / East Asian People / Epilepsy / Female / Gastroesophageal reflux / Gastrointestinal diseases / gastrointestinal symptom / Humans / Male / Mutation / Normal distribution / Original / Patients / Pediatrics / Prevalence / Questionnaires / Regression analysis / Rehabilitation / risk factor / Risk Factors / Sleep disorders / Swallowing / swallowing function