322 - Constipation, Gastrointestinal and Feeding Issues in CHARGE Syndrome

Publication Number: 322.4555

Annie P. Kakamousias, Dalhousie University Faculty of Medicine, Halifax, NS, Canada; Kim Blake, Dalhousie University Faculty of Medicine, Halifax, NS, Canada

Background: CHARGE Syndrome is a genetic disorder that occurs due to a mutation in the CHD7 gene. Gastrointestinal symptoms, notably constipation, bloating, and flatulence are highly prevalent in this population, but very little is known regarding the prevalence and patterns of these problems. Constipation and other gastrointestinal issues have multifactorial causes in CHARGE Syndrome, including cranial nerve dysfunction, feeding difficulties, and motility problems.

Objective: The present study aimed to determine more accurately a prevalence of constipation and gastrointestinal issues in CHARGE Syndrome, as well as the health-related impact on quality-of-life.

Design/Methods: The Feeding Assessment Scale for Severe Feeding Problems, PedsQL gastrointestinal symptoms scale, PAC-QOL, and ROME IV Diagnostic Criteria were used to collect data from participants about feeding, gastrointestinal symptoms and quality-of-life.

Results: The present study had 50 participants: M = 18, F = 31, NB = 1, with an age range of 2-46 and an average age of 16.2 (SD = 11.0). It was found that 48% of participants experienced constipation and 64% experienced gastrointestinal issues, and it was more likely for females to experience these problems. Those who experienced constipation were more likely to have comorbid gastrointestinal issues: their average score on the PedsQL gastrointestinal symptoms scale was 56.0 (SD = 15.5), versus an average of 73.1 (SD = 21.1) in those without GI issues. Those with CHARGE Syndrome and constipation also experienced a lower quality-of-life compared to those with constipation without CHARGE Syndrome, as exemplified by an average of 2.4 on the PAC-QOL score. Younger participants were more likely to be tube-fed, and more likely to experience a variety of gastrointestinal issues, whereas older participants experienced almost exclusively constipation. It is likely that tube-feeding is playing a role in the variable gastrointestinal issues seen in younger patients, as they were more likely to be tube fed, and that solid feeding contributes to more constipation as seen in older participants.

Conclusion(s): Constipation and gastrointestinal issues are incredibly prevalent in CHARGE Syndrome causing severe morbidity, despite being under-recognized. This is in keeping with what is known from animal models, which show vagal nerve dysfunction and altered gut transit time in CHARGE Syndrome. Due to the high prevalence and morbidity of constipation in CHARGE Syndrome, early recognition and intervention is key. In the future, attention should be targeted towards gut motility and transit time in those with CHARGE Syndrome.