Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data

Journal of Comparative Effectiveness Research, 2024

Aim

Patients with Rett syndrome (RTT) experience gastrointestinal (GI) manifestations. This study aimed to describe the prevalence of GI manifestations and the associated medical costs in patients with RTT in the USA. 

Patients & Methods

The study combined an insurance claims database analysis with a survey of 100 physicians experienced in RTT management.

Results

GI manifestations affected 43.0% of 5940 patients, with increased prevalence in pediatric patients (45.6%) relative to adult patients (40.2%). Annualized mean medical cost of managing GI manifestations was $4473. Only 5.9-8.2% of neurologists and pediatricians ranked GI symptom management among the five most important treatment goals.

Conclusion

Patients with RTT experience a high burden of GI manifestations, which translate to considerable medical costs. Importantly, the prevalence of GI manifestations was likely underestimated in this study, as only those symptoms which resulted in a healthcare encounter were captured.

View abstract

Authors

May DM, Neul J, Piña-Garza JE, Kponee-Shovein K, Satija A, Mahendran M, Downes N, Sheng K, Lema N, Boca A, Lefebvre P, Abler V, Youakim JM, Cheng WY