Bladder and bowel symptoms experienced by children with osteogenesis imperfecta

Area of Science:

• Pediatric Urology
• Gastroenterology
• Rare Diseases

Background:

• Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
• Bladder and bowel dysfunction are common in children but understudied in those with OI.
• Understanding these symptoms is crucial for improving the quality of life for children with OI.

Purpose of the Study:

• To determine the prevalence and characteristics of bladder, bowel, and combined symptoms in children with OI.
• To establish a socio-demographic and clinical profile of affected children.

Main Methods:

• A descriptive study involving 31 parent-child pairs of toilet-trained children (3-18 years) with OI.
• Utilized a Socio-Demographic and Clinical Questionnaire, Dysfunctional Voiding Scoring System, and Rome III Criteria.
• Data analyzed using descriptive statistics, stratified by socio-demographic and clinical variables.

Main Results:

• 38.7% of children reported bowel symptoms; 19.4% had combined bladder and bowel issues.
• No isolated bladder symptoms were reported.
• The study included 51.7% females, with 64.5% aged 5-14 years. Osteogenesis imperfecta type III was most common (38.7%), and 25.8% used wheelchairs.

Conclusions:

• This is the first study to investigate bladder and bowel symptoms in children with OI.
• Findings offer a preliminary profile to guide screening, detection, and treatment strategies.
• Essential for clinicians managing this vulnerable pediatric population.