Evaluation of Constipation in Pediatric Patients with Osteogenesis Imperfecta

Background. Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue that often presents with fractures and bone bowing. Constipation is a common symptom in OI and is likley multifactorial. To our knowledge no assessment of the relationship between OI type, OI complications, and constipation has been conducted in this vulnerable patient population. Methods. A retrospective chart and radiographic review was conducted to assess the relationship between constipation and OI type, age, gender, GI symptoms, mobility scores and overall functionality. A total of 98 children with OI were included. Radiographs were analyzed to determine the presence of acetabular protrusio and the degree of fecal loading. Results. Fifty-three female (54%) and 45 male (46%) OI children with a median age of 85.8 months were analyzed. OI types were 30.6% Type I, 30.6% Type III, 27.6% Type IV, and 11.2% other. Constipation was reported in 60%, 26.7%, 11.1%, and 54.5% of children with types III, I, IV, and other, respectively. There was a statistically significant association between the severity of OI and the report of constipation (P < .001). Participants who reported weakness had a higher percentage of constipation, 55.6% versus 21.1%, (P = .001). Sixty percent of children with acetabular protrusion reported constipation, while only 27.4% of children without acetabular protrusion reported constipation (P < .01). Conclusion. Our study demonstrates a potential link between constipation and severity of OI, with weakness as a likely contributing factor. This study also affirmed an association between acetabular protrusion and constipation. Constipation warrants further investigation in OI as to cause and treatment.