Understanding characteristics, conditions and treatment patterns among males diagnosed with Rett syndrome: an analysis of commercial health insurance claims

Abstract

Background: Though rarely diagnosed with Rett syndrome, males account for 3-5% of all cases in the USA. Nevertheless, few studies have examined characteristics of males with Rett syndrome and their healthcare service utilization using commercially available healthcare claims data. Objective: Improve understanding of healthcare service utilization and cost associated with the population of males with Rett syndrome. Methods: Data were integrated medical and pharmacy claims. Male individuals with more than two claims with a primary diagnosis of Rett syndrome were stratified into age groups (<5 years; ≥5 and <10 years; and ≥10 years). Patient descriptions, comorbidities, service utilization and cost were measured. Results: Mean age was 20.4 years and most patients had Medicaid. Epilepsy, incontinence, dyspnea and dysphagia were common comorbidities during follow-up. Individuals averaged 6.7 office visits, 4.1 outpatient visits, 2.2 emergency admissions and 4.5 inpatient admissions per year. Occupational therapy was used more than physical and speech therapy. Conclusion: The study improves understanding of males with Rett syndrome within a commercially available dataset. Plain language summary Rett syndrome is a genetic disorder rarely found in male individuals. Our study looked at their available commercial claims data and placed them into three different groups based on their age (1-5, 5-10 and 10+ years). Each group was analyzed for their characteristics and healthcare resource utilization, which included medical equipment and pharmacy use. The results present specifics on the symptoms and types of care that male individuals with Rett syndrome experience. Further studies should continue to use commercial claims data of males with Rett syndrome in order to expand the knowledge of Rett syndrome in this data source. Tweetable abstract Rett syndrome (RTT) rarely affects males. This study analyzed their demographics and healthcare utilization within a commercial claims database to better understand how RTT presents in this population. Future studies should continue to use claims data to increase understanding of RTT.