Toileting Problems and Associated Factors in Adults Enrolled in the Global Angelman Syndrome Registry.

BACKGROUND

Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by the lack of expression of the UBE3A gene, which can result from abnormalities of the maternally inherited chromosome 15q11-q13. The purpose of this study is to investigate the most common types of toileting problems in adults with AS and the associated factors of toileting problems in adults with AS.

METHOD: Data from participants with AS (N = 40; aged 18-46 years) registered with the Global Angelman Registry, were divided into toileting problems and no toileting problems groups based on the presence or absence of 50% of the toileting behaviours recorded in the registry.

RESULTS

It was found that 65% of the sample presented with toileting problems. A significant association between toileting problems and type of feeding during infancy, the use of signing and the use of single words, as a form of communication, were found. Feeding type and use of signing were analysed using a logistic regression and classified 95% of individuals in the sample.

CONCLUSION

The novel findings that this study adds are investigating toileting problems and associated factors of toileting problems in an adult sample of individuals diagnosed with AS. Little research has been conducted on toileting problems in adults with AS. The current study further adds to the small body of literature on toileting problems in adults with AS.