Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data
Publication: Journal of Comparative Effectiveness Research
Abstract
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.
Tweetable abstract
Rett syndrome (RTT) is a rare and debilitating genetic disease. By combining claims data with a physician survey, we report on the prevalence, costs, and physicians' management strategies of gastrointestinal symptoms associated with RTT.
Plain language summary
What is this article about?
Rett syndrome (RTT) is a rare and severe neurodevelopmental disorder that almost exclusively affects girls and women. Patients with RTT develop debilitating symptoms that evolve throughout their lifespan, rendering them severely disabled. Gastrointestinal (GI) manifestations are common in patients with RTT and add to patient burden and caregiver concerns. This study described the prevalence of GI manifestations of RTT and the associated physician perspectives and medical costs in pediatric (<18 years) and adult patients.
What were the results?
In an analysis of insurance claims data from the USA, GI manifestations were found to affect 43.0% of all patients and were slightly more common in pediatric patients (45.6%) relative to adult patients (40.2%). Mean medical costs of managing GI manifestations amounted to $4473 per patient per year (PPPY) and were somewhat higher in pediatric ($5530 PPPY) than adult ($3341 PPPY) patients. In a survey of 100 US physicians experienced in RTT management, only 5.9% of neurologists and 8.2% of pediatricians ranked management of GI manifestations among the five most important RTT treatment goals.
What do the results of the study mean?
This study suggests that both pediatric and adult patients with RTT experience a high burden of GI manifestations, which are also associated with considerable medical costs. It is possible to proactively address GI manifestations as part of current routine care, although management of GI symptoms remains under-represented as an RTT treatment goal among treating physicians.
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© 2023 Acadia Pharmaceuticals. This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License
History
Received: 13 April 2023
Accepted: 31 October 2023
Published online: 16 November 2023
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Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data. (2023) Journal of Comparative Effectiveness Research. DOI: 10.57264/cer-2023-0054
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