Omphalocele at school age: What do parents report? A call for long-term follow-up of complex omphalocele patients

Objective: Many children with omphalocele experience morbidity in early life, which could affect long-term outcomes. We determined parent-reported outcomes in school-aged children treated for minor or giant omphalocele. Study design: We sent paper questionnaires to the parents of all children treated for omphalocele in 2000–2012. Giant omphalocele was defined as defect diameter ≥ 5 cm with liver protruding. Motor function (MABC-2 Checklist) was compared with Dutch reference data; cognition (PedsPCF), health status (PedsQL), quality of life (DUX-25) and behavior (Strengths and Difficulties Questionnaire; SDQ) were compared with those of controls (two per child) matched for age, gender and maternal education level. Possible predictors of cognition and behavior were evaluated using linear regression analyses. Results: Of 54 eligible participants, 31 (57%) returned the questionnaires. MABC-2 Checklist scores were normal for 21/26 (81%) children. Cognition, health status, quality of life and behavior were similar to scores of matched controls. One quarter (26%) of children with omphalocele scored ≤ − 1 standard deviation on the PedsPCF, compared with 9% of matched controls (p = 0.07). Giant omphalocele and presence of multiple congenital anomalies (MCA) were most prominently associated with lower PedsPCF scores (giant omphalocele: β −22.11 (95% CI: −43.65 to −0.57); MCA -23.58 (−40.02 to −7.13)), although not significantly after correction for multiple testing. Conclusions: Parent-reported outcomes of children with omphalocele at school age are reassuring. Children with an isolated, minor omphalocele do not need extensive long-term follow-up of daily functioning. Those with a giant omphalocele or MCA might be at risk for delayed cognitive functioning at school age; we recommend long-term follow-up to offer timely intervention.