Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors on costs. The study population consisted of individuals with Rett syndrome registered with the Australian Rett Syndrome Database in 2004. Descriptive analysis was used to examine patterns of resource use and costs, and logistic regression to analyse factors associated with higher costs. We found the use of health sector and related resources varied by type of resource. Mean annual cost per case was $21,158 (range $238–$85,776). High cost items included long-term residential care, therapy services out of school and paid home and community care. Factors associated with increasing odds of being above the median cost were clinical severity and the p.R255X mutation. Compared with the youngest cases, cases in the 5–14 year age group and the 15–24 year age group were at lower odds of being above the median cost. Needs relating to health sector and related resources can result in considerable costs for individuals with Rett syndrome. Many households caring for dependents with Rett syndrome are like to be facing undue financial pressures from the additional costs of disability.

Research highlights▶ The health care costs for Rett syndrome have never previously been evaluated. ▶ The evaluation of costs in a total Rett syndrome population found that high cost items included long-term residential care, therapy services out of school and paid home and community care. ▶ There is considerable variation in annual health care costs in Rett syndrome with the top 25% of high cost cases accounting for nearly two thirds of total annual costs. ▶ Higher costs were associated with increased clinical severity and certain mutation types. ▶ Many households caring for dependents with Rett syndrome are likely to face undue financial pressures from the additional costs of disability.