Gastrointestinal Issues in CHARGE Syndrome: Prevalence, Patterns, and Constipation-Related Quality of Life

Gastrointestinal (GI) symptoms are common in CHARGE syndrome, but their frequency and characteristics remain poorly documented due to the complex nature of CHARGE syndrome. This study aimed to determine the prevalence of GI issues in CHARGE syndrome and their impact on quality of life (QoL). Standardized questionnaires were used to collect data on GI symptoms, feeding, and QoL. Fifty participants: M = 18, F = 31, NB = 1, ages ranged 2-46 years. (mean 16.2). GI issues (64%, n = 32) and constipation (48%, n = 24) were frequent and more prevalent in females. Constipation was linked to greater GI comorbidities and lower QoL, with PedsQL GI Symptoms Scale Scores of 56.0 versus 73.1 (p = 0.04). Tube-fed participants were younger (mean 11.7 years, range 2-38) than orally fed participants (mean 18.7 years, range 2-46, p = 0.02) and had lower Pediatric Assessment Scale for Severe Feeding Problems scores (means 16.9 vs. 35.1, p < 0.00001). Younger participants experienced more varied GI issues while older ones primarily dealt with constipation. Early and ongoing GI specialist involvement is crucial to address the often-overlooked GI symptoms in CHARGE syndrome. We also explored decreased gut motility as a potential cause of these issues.