Highlight
– Gastrointestinal (GI) symptoms were reported in 64% of 50 individuals with CHARGE syndrome; constipation affected 48% and was more common in females.
– Constipation correlated with greater GI comorbidities and significantly lower GI-specific quality of life (PedsQL GI scores 56.0 vs 73.1, p = 0.04).
– Younger participants had more varied GI pathology and higher feeding-tube rates; older participants primarily presented with constipation.
– Early and ongoing involvement of GI/motility specialists is recommended; decreased gut motility is a plausible contributing mechanism warranting further study.
