P05.05: Prenatal presentation of fibrochondrogenesis: a rare lethal skeletal dysplasia

Abstract

Objectives: To improve counselling on omphalocele, by determining parent-reported motor function, cognition, health status, quality of life and behaviour in school-aged children. Methods: We sent paper questionnaires to all parents of children born with omphalocele between 2000-2012. Motor function (MABC-2 checklist) and emotional and behavioural problems (SDQ) were compared with reference data; health status (PedsQL), quality of life (DUX-25) and cognition (PedsPCF) were compared with that of controls (two per child) matched for age, gender and socio-economic status.Results: Thirty-one of 54 (57%) eligible participants returned the questionnaires. Nineteen (61%) children had been diagnosed prenatally and 10 (32%) had giant omphalocele. Of 26 children with MABC-2 checklist scores, 21 (81%) scored within normal range, and 5 (19%) -of whom 2 had giant omphalocele -scored borderline or were highly likely to have motor problems. The total difficulties SDQ score was normal in 17 (55%) children; 14 (45%) scored within the borderline or abnormal range (vs. 20% expected, p=0.001). Health status, quality of life and cognition scores were comparable with those of matched controls (table 1). Conclusions: Parents of children treated for omphalocele reported normal motor function, cognition, health status and quality of life, but more behavioural problems than healthy children. This is subject to further study.