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

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.