title: The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Urology and Genetics Unit of the Children's Institute, University of São Paulo School of Medicine, São Paulo, Brazil.
authors.forename: Zein M
authors.initials: ZM
authors.lastname: Sammour
authors.forename: Cristiano M
authors.initials: CM
authors.lastname: Gomes
authors.forename: Jose
authors.initials: J
authors.lastname: de Bessa
authors.forename: Marcello S
authors.initials: MS
authors.lastname: Pinheiro
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
authors.forename: Rachel S
authors.initials: RS
authors.lastname: Honjo
authors.forename: Flavio E
authors.initials: FE
authors.lastname: Trigo-Rocha
authors.forename: Homero
authors.initials: H
authors.lastname: Bruschini
authors.forename: Miguel
authors.initials: M
authors.lastname: Srougi
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008333:Mandelic Acids / Q000008:administration & dosage*; D018727:Muscarinic Antagonists / Q000008:administration & dosage*; D011446:Prospective Studies; D011788:Quality of Life; D016896:Treatment Outcome; D014555:Urination Disorders / Q000188:drug therapy* / Q000209:etiology / Q000503:physiopathology; D014563:Urodynamics / Q000187:drug effects*; D018980:Williams Syndrome / Q000150:complications* / Q000503:physiopathology
chemical_list: D008333:Mandelic Acids; D018727:Muscarinic Antagonists; C005419:oxybutynin