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A database profile of Angelman and Prader-Willi syndromes in Western Australia

Thomson, A., Glasson, E.J., Sullivan, S.G. and Bittles, A.H. (2004) A database profile of Angelman and Prader-Willi syndromes in Western Australia. In: Genetics and Population Health, 8 - 10 August 2004, Fremantle, Western Australia


The study focused on the life histories of individuals diagnosed with Prader-Willi (PWS) or Angelman syndrome (AS) in Western Australia. Data obtained from the client files of the Disability Services Commission (DSC) were supplemented by information from the state Genetic Services database, and the Hospital Morbidity data system. A total of 90 individuals were identified from the DSC database: 19 female and 15 male AS, and 26 female and 30 male PWS. Nine of the 90 subjects were deceased (7 PWS and 2 AS); the age range of living patients was 0.9-46.8y (mean 19.5y) The level of intellectual function varied from normal to profoundly handicapped (IQ<40), with 9% of undetermined capacity. Average age at diagnosis was ~six years for both syndromes (range, 0.1-27.0y). Information collected included clinical presentation, details of laboratory investigations, and hospital admissions for each individual. Analysis of these data has enabled the establishment of a database that offers detailed advice to families and support agencies on the life-courses of both disorders. Further information will be added to the database as it becomes available, to maximise the benefit to these groups.

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