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.