Original articleRett syndrome in Australia: A review of the epidemiology
Section snippets
Methods
The ARSD was established in 1993 as a population-based registry.25 Cases are identified from multiple sources, including the Australian Paediatric Surveillance Unit 26 and the Rett Syndrome Association of Australia, a parent support group. Upon enrollment, questionnaires are administered to the child’s clinician and family. Information from these questionnaires is used to verify case status. Verification currently requires either the presence of a pathogenic MECP2 mutation or the presence of at
Results
By Dec 31, 2004, 276 verified female and 2 male cases born since 1976 had been registered with the study. For the purposes of this analysis, the two males were excluded. The revised criteria for classical RTT were met by 67% of the verified cases and 74% of the mutation-positive cases (Table II). Ninety-five percent (264/276) of cases were born in Australia. The mean age at diagnosis was 5.3 years (SD 3.9). Cases were proportionally distributed by state and territory, as for the general
Discussion
In the ARSD, genetic information has been helpful in providing verification in those cases where clinical data may be incomplete and thus the clinical criteria are not fully satisfied. Genetic testing is particularly valuable to clinicians in those subjects who are younger than 5 years old and who may not yet have developed a full “Rett phenotype.” It is likely that the availability of genetic testing could have changed the pattern of diagnosis elsewhere, as it has done in Australia. We found
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Supported by the National Institute of Child Health and Human Development under National Institutes of Health grant 1 R01 HD43100-01A1. Helen Leonard is funded by NHMRC program grant 353514, Dr Carol Bower by NHMRC fellowship 353628, and Dr John Christodoulo by NHMRC project grants 185202 and 346603.