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

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.