Functional constipation in children and young adults with Prader-Willi syndrome

Prader-Willi Syndrome (PWS) is characterized by hyperphagia, endocrinopathies, and gastrointestinal abnormalities. Clinical concerns about constipation and fecal incontinence (FI) are common, but no studies to date have clear data on functional defecation disorders in children with PWS. This study aims to describe the prevalence of functional constipation (FC) in children with PWS seen at Seattle Children's Hospital between 2019 and 2023.

Parental perception of stooling was collected with a survey designed to correlate with the Rome IV criteria for FC. A retrospective chart review, including survey answers, was done for 69 patients ages 1-21 years who completed the initial survey between 2019 and 2023. FC status was assigned according to responses. Results were collected in an online secure REDCap database, and statistical analysis was done in STATA statistical software.

Approximately 17% of the population reported symptoms consistent with FC. Those with FC trended older and had higher rates of laxative use. Growth hormone and levothyroxine use were similar between groups. Parents of patients with FC were more likely to identify their child had constipation, though half did not. Lastly, 35% of patients had FI after established toilet training, though it was not always associated with FC at the time of the visit.

Rates of constipation in the pediatric PWS population are nearly 80% higher than in the general population, with high rates of FI. The accuracy of parental reports of constipation may be unreliable without reviewing symptoms. This study highlights the importance of parent and provider education and recognition of functional defecation disorders in children with PWS.