Abstract

Bladder Bowel Dysfunction (BBD) has been described in patients with Down's Syndrome (DS). Our aim was to report the incidence, demographics, presentation, complications and management of the bladder in DS patients with BBD. A systematic review was performed using PRISMA guidelines and search terms "{[(trisomy 21) OR down's syndrome]} AND [("non-neurogenic") OR voiding dysfunction]" in the search engines MEDLINE and SCOPUS. We also include a case series from two paediatric urology centres. A total of 38 patients with BBD and DS were included. Mean age was 12years (newborn to 21years), the male:female ratio was 2:1. Functional constipation (90%), recurrent urinary tract infections (38%) and enuresis were common at presentation (56%), while over 56% patients required surgical intervention. Medical treatment and behavioral modification were less successful while intermittent catheterisation did not work. This study reviews the largest cohort of patients with BBD in DS. It is common with serious consequences requiring operative intervention. Usual interventions are unreliable due to poor compliance. Early identification and management protect the renal tract. Regular screening for urogenital anomalies in DS is currently not performed. We recommend a thorough history of bladder function in DS patients to identify these cases early.

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