Acadia Pharmaceuticals Inc., San Diego, CA 92130, USA.
Vanderbilt University Medical Center, Nashville, TN 37232, USA.
J Comp Eff Res. 2024 Jan;13(1):e230054. doi: 10.57264/cer-2023-0054. Epub 2023 Nov 16.
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. The study combined an insurance claims database analysis with a survey of 100 physicians experienced in RTT management. 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. 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.
雷特综合征（RTT）患者会出现胃肠道（GI）症状。本研究旨在描述美国 RTT 患者 GI 症状的流行情况及其相关医疗费用。该研究将保险索赔数据库分析与对 100 名有 RTT 管理经验的医生进行的调查相结合。43.0%的 5940 名患者存在胃肠道症状，儿科患者（45.6%）比成年患者（40.2%）更为常见。管理胃肠道症状的年化平均医疗费用为 4473 美元。只有 5.9-8.2%的神经科医生和儿科医生将胃肠道症状管理列为五个最重要的治疗目标之一。RTT 患者胃肠道症状负担较重，医疗费用也较高。重要的是，由于仅捕获了导致医疗就诊的症状，因此本研究中胃肠道症状的流行情况可能被低估了。
