Uroflowmetric assessment in participants with Angelman syndrome

Abstract

Objective: To asses possible bladder dysfunctions and lower urinary tract symptoms (LUTS) in individuals with Angelman syndrome (AS), since remarkable voiding characteristics were found in previous studies on toilet training and incontinence in AS.

Method: Uroflowmetric analysis, a non-invasive technique to assess the voiding pattern, was conducted in six participants with AS.

Results: Pathological uroflow patterns were found in five participants; staccato flows in three participants, interrupted flows in one and both interrupted and staccato flows in another participant. Small quantities or urine were found in four participants, large amounts in one and one participant had normal voided volumes.

Conclusions: Results indicate that different conditions such as dysfunctional voiding are present in AS and future studies should further assess these in greater detail. Possible treatment of LUTS and incontinence includes adequate liquid intake, timed voidings, treatment of constipation, and allowing enough time on toilet to stimulate relaxation.

• Angelman syndrome
• bladder dysfunction
• dysfunctional voiding
• lower urinary tract symptoms
• uroflowmetric assessment

Acknowledgments

The authors thank participants, parents and caretakers for taking part in this research. The authors also thank Medical Measurement Systems in Enschede, the Netherlands, and their CEO Jan Willem van der Wal for providing the uroflowmetric equipment free of charge.

Declaration of interest

This research was funded by the Angelman Foundation, The Netherlands. The authors alone are responsible for the research and content of this article. The authors report no conflicts of interest.