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The Effects of Oxybutynin on Urinary Symptoms in Children with Williams-Beuren Syndrome      6/29/2013
The Journal of Urology
Volume 188, Issue 1 , Pages 253-257, July 2012


Williams-Beuren syndrome is a genomic disorder caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Lower urinary tract symptoms are common in children with Williams-Beuren syndrome. However, there are few data on the management of voiding symptoms in this population. We report our experience using oxybutynin to treat urinary symptoms in children with Williams-Beuren syndrome.

Materials and Methods

We prospectively analyzed 42 patients with Williams-Beuren syndrome and significant lower urinary tract symptoms due to detrusor overactivity diagnosed on urodynamics in a 12-week, open-label study. Urological assessment included symptomatic evaluation, the impact of lower urinary tract symptoms on quality of life, frequency-volume chart, urodynamics and urinary tract sonography. After 12 weeks of treatment with 0.6 mg/kg oxybutynin per day given in 3 daily doses, patients were assessed for treatment efficacy and side effects.


A total of 17 girls and 19 boys completed medical therapy and were assessed at 12 weeks. Mean ± SD patient age was 9.2 ± 4.3 years (range 3 to 18). The most common urinary complaint was urgency, which occurred in 31 patients (86.1%), followed by urge incontinence, which was seen in 29 (80.5%). Compared to baseline, urinary symptoms were substantially improved. The negative impact of storage symptoms on quality of life was significantly decreased from a mean ± SD of 3.3 ± 1.7 to 0.5 ± 0.9 (p <0.001). Mean ± SD maximum urinary flow improved from 14.2 ± 15.0 to 20.5 ± 6.4 ml per second (p <0.001).


A total of 12 weeks of therapy with 0.6 mg/kg oxybutynin daily resulted in improvement of lower urinary tract symptoms, quality of life and maximum flow rate in most patients with Williams-Beuren syndrome.
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