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A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003

Thomson, A. K., Glasson, E. J., Bittles, A. H.,

Academic Literature

2006

The purpose of this paper is to investigate the incidence, clinical presentation and associated comorbidities of Angelman syndrome (AS) in Western Australia, with the establishment of an information database for the disorder. Data were collected from Disability Services Commission files, supplemented by datasets provided by the Western Australian Data Linkage Unit. Thirty-four individuals (two deceased) were identified (19 F, 15 M), with an average age of 21.6 years; 52.9% had an IQ 40, with the remainder of IQ 40–69. The incidence was one in 40,000 births and the average age at diagnosis was 5.8 years. The average age of the 23 home residents was 20.2 years compared to 27.9 years in the nine individuals in sheltered accommodation. In general, the patients exhibited a typical AS clinical presentation. A median of 5.5 (range 0–20) hospital admissions was recorded per person, with epilepsy, gastrointestinal disorders, and dental work all common reasons for admission.

Publication information

Journal/Publication : Disability & Rehabilitation

Location : Australasia

Domain/s: Housing and the built environment, Health and wellbeing

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