Patient-Reported Long-Term Gastrointestinal Outcomes in Children with Omphalocele and Gastroschisis: A PedsQL GI Module Study

Previous studies exploring long-term outcomes of patients with omphalocele and gastroschisis suggest an ongoing burden of gastrointestinal symptoms but also highlight substantial heterogeneity in methodology and outcomes measurement, limiting comparability. Therefore, the aim of this study was to systematically evaluate patient-reported long-term gastrointestinal symptoms, using a validated questionnaire, and compare the scores to those of healthy controls.All children treated for omphalocele and gastroschisis between 1999 and 2022 were invited to complete the Pediatric Quality of Life Inventory GI Module, consisting of twelve gastrointestinal domains. Parent proxy-reports or child self-reports were sent by mail, appropriate for the participants' age. The scores were compared with a predefined American healthy cohort (<i>n</i> = 513). Significance threshold was <i>p</i> < 0.004 (Bonferroni-corrected).In total, 45/131 (34.4%) respondents completed the questionnaire, of whom 20 had omphalocele (50.0% male, median age 10.4 years [IQR: 6.4-16.4]), and 25 had gastroschisis (56.0% male, median age 9.9 years [IQR: 6.2-16.8]). Omphalocele patients reported a similar mean total score (86.5 [ ± 15.9] vs. 88.6 [ ± 12.9], <i>d</i> = 0.15, <i>p</i> = 0.566) and similar domain scores (<i>d</i> < 0.35, <i>p</i> > 0.01) compared with healthy controls. Gastroschisis patients also reported a similar mean total score compared with healthy controls (84.9 [SD ± 10.9], <i>d</i> = 0.31, <i>p</i> = 0.112). However, they scored worse on the domains "gas and bloating" (<i>d</i> = 0.78, <i>p</i> = 0.001), "diarrhea" (<i>d</i> = 0.74, <i>p</i> = 0.002), and "constipation" (<i>d</i> = 0.51, <i>p</i> = 0.026).Omphalocele patients reported a low burden of long-term gastrointestinal symptoms, indicating that routine follow-up may not be required. In contrast, gastroschisis patients reported a higher prevalence of gas and bloating, diarrhea, and constipation compared with healthy controls, highlighting the importance of early recognition and targeted management of these symptoms.