Prevalence of lower urinary tract symptoms in individuals with Down syndrome

Down syndrome (DS), which is caused by the trisomy of chromosome 21, is the most frequent of all genetic syndromes. The current study aims to estimate the prevalence of lower urinary tract symptoms (LUTS) in individuals with DS buy using the Dysfunctional Voiding Symptom Score (DVSS) and correlate with functional constipation, age, and gender, as well as determine the most sensitive and specific factors associated with LUTS.

LUTS was assessed in individuals with DS using a cross-sectional study through the application of a validated and adapted version of the DVSS for the Brazilian population. The presence of functional constipation was evaluated according to the Rome III criteria.

Of the 114 individuals assessed, 84 were included in the study (median age 16 ± 5.0 years, 66.7% female). The prevalence of LUTS was 27.3%. The symptoms were more frequent in males (OR 3.0, 95% CI 1.1-8.3, p = 0.03) and in individuals younger than 10 years of age (OR 5.2, 95% CI 1.8-14, p = 0.001). Functional constipation was observed in 50% of subjects. It was detected in 95.65% of the individuals with LUTS and 32.78% without LUTS (OR 45.1, 95% CI 5.66-301, p = 0.001). The symptom listed in question 8 ("push to pee") was the most specific indicator. When present, this symptom indicated a higher probability of LUTS (LR+ = 6.3), while the symptom listed in question 4 ("push for bowel movements to come out") showed high sensitivity and, when absent, indicated a lower probability of LUTS (LR- = 0.1).

LUTS was more prevalent in young males with DS and appeared to improve with age. Functional constipation was strongly associated with LUTS. These findings will contribute to raising the awareness of professionals involved in the follow-up of individuals with DS regarding the clinical manifestations and the need for a standardized investigation of LUTS.