Epidemiology and Healthcare Resource Utilization of Rett Syndrome in Canada: The Ontario Experience

Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder, characterized by the gradual loss of motor, verbal and social skills. This study describes the epidemiology and healthcare resource utilization (HCRU) of RTT in Ontario, Canada.

Rett Syndrome (RTT) cases (≥ one ICD-10-CA code F84.2) were identified utilizing the Institute for Clinical Evaluative Sciences (ICES) data. Incident cases were identified between September 2017 and August 2023, while prevalent cases were captured from April 2002 to August 2023. Prevalent cases identified before September 2017 were indexed on that date. Demographic and clinical characteristics were collected and analyzed descriptively. Prevalence and incidence were calculated. Healthcare resource utilization (HCRU) was analyzed as the number of cases with at least one touchpoint and the number of touchpoints.

In total, 246 RTT cases were indexed; 40% from central Ontario, 95% female, median age 21 years. From September 2017 to August 2023, 57 incident cases and 257 prevalent cases were reported in Ontario. Common comorbidities included developmental disability (85.4%), epilepsy (49.6%) and gastrointestinal symptoms (42.3 %). Most patients had at least one outpatient visit (primary care 96.7%, specialist 86.6%), emergency department visit (76.8%) and inpatient hospitalization (54.5%). During the 5-year follow-up period, most cases (95.1%) had at least one public claim for all-cause medication. Disease-specific medication claims included antibiotics (69.1%) and anti-seizure medications (73.6%).

This study provides population-based estimates of RTT in Ontario. Findings highlight the high burden of illness in RTT in terms of comorbidity prevalence and HCRU. Further research may identify opportunities to improve healthcare outcomes in this population.