Journal article

A Population-Based Profile of 160 Australians with Prader-Willi Syndrome: Trends in Diagnosis, Birth Prevalence and Birth Characteristics

Tess Lionti, Susan M Reid, Susan M White, Margaret M Rowell



Perceived temporal trends in recognition and diagnosis of Prader-Willi syndrome served as the rationale for an updated epidemiological profile of individuals with this syndrome. Data from the Victorian Prader-Willi Syndrome Register were used to explore birth prevalence, birth characteristics, timing of diagnosis, and molecular mechanism, and to identify trends over time. Maternal age, birth gestation, small for gestational age, and sex were compared across molecular mechanisms. Between 1951 and 2012 there were 160 individuals with Prader-Willi syndrome, known to the Victorian Prader-Willi Syndrome Register, who were born in the Australian state of Victoria. The birth prevalence for individu..

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Funding Acknowledgements

The authors gratefully acknowledge the members of the multidisciplinary PWS clinic held at The Royal Children's Hospital in Melbourne and the PWS Association of Victoria for the support they have provided to the VPWSR. We acknowledge Mr David Francis of the cytogenetic laboratory within Victorian Clinical Genetics Service for providing genetic test results in accordance with the VPWSR's ethics approval and Professors George Werther and Matt Sabin for their endocrinology input. We are also appreciative of the financial support provided by the Ultimate Challenge, the Doo Bees and Trailblazers Auxiliaries of the Royal Children's Hospital. This study was also supported by the Victorian Government's Operational Infrastructure Support Program.