The Journal of Pediatrics
Volume 148, Issue 3 , Pages 347-352, March 2006

Rett syndrome in Australia: A review of the epidemiology

From the Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Western Australia; Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney, New South Wales; Discipline of Paediatrics and Child Health, University of Sydney, New South Wales; Western Australian Institute of Medical Research and Centre for Medical Research, The University of Western Australia, Perth, Western Australia

Received 6 June 2005; received in revised form 1 September 2005; accepted 19 October 2005.

Objective

To examine the prevalence, cumulative incidence, and survival in an Australian cohort with Rett syndrome (RTT).

Study design

The Australian Rett Syndrome Database is a longitudinal data collection that included 276 verified female cases at the end of 2004. Survival was calculated using the Kaplan-Meier product limit method, and cumulative incidence was determined using the complement of the Kaplan-Meier method.

Results

Most cases (88.4%) have had MECP2 mutation testing, with positive results in 73%. The prevalence of RTT was .88 per 10,000 females in 5- to 18-year-olds, and the cumulative incidence was 1.09 per 10,000 females by 12 years of age. The cumulative incidence by the age of 5 years increased from .39 per 10,000 in the 1980 to 1984 cohort to .76 per 10,000 in birth cohorts beyond 1984. Survival was 77.8% at 25 years, compared with 99.96% survival in the Australian female population. Pneumonia (10/25) was the most common cause of death.

Conclusions

The availability of genetic testing has contributed to the changing pattern and timing of RTT diagnosis in Australia. Girls with RTT have worse survival compared with the general female population. When more data are available, it will be possible to evaluate the relationship between survival and specific MECP2 mutations.

Abbreviations:  ARSD, Australian Rett Syndrome Database , DHPLC, Denaturing high high-performance liquid chromatography , MECP2, Methyl-CpG binding protein 2 gene , RTT, Rett syndrome

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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.

PII: S0022-3476(05)01030-9

doi:10.1016/j.jpeds.2005.10.037

The Journal of Pediatrics
Volume 148, Issue 3 , Pages 347-352, March 2006

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