The prevalence and incidence of Rett syndrome in Australia

Abstract

The Australian Paediatric Surveillance Unit and the Rett Syndrome Association of Australia (a parent support group) were the main sources of ascertainment of cases of Rett syndrome (RS) aged 18 years or less in Australia. Further information was obtained from questionnaires to paediatricians and families. Cases were categorised as classical, atypical, potential or non-verifiable, using internationally recognised criteria. Capture recapture methods were used to adjust prevalence measures for missing cases, and Kaplan Meier survival analysis to estimate cumulative incidence. A total of 134 cases of RS was identified, and of those over 5 years of age, 68% were classical and 32% were atypical. T..