Journal of Intellectual Disability Research doi: 10.1111/j.1365-2788.2005.00770.x
pp –
© Blackwell Publishing Ltd
69
Blackwell Science, LtdOxford, UKJIRJournal of Intellectual Disability Research -Blackwell Publishing Ltd, 16978Original ArticlePrader–Willi syndrome in Western AustraliaA. K. Thomson et al.
Correspondence: Allyson K. Thomson, Centre for Human Genetics,
Edith Cowan University, Joondalup Drive, Perth, WA ,
Australia (e-mail: a.thomson@ecu.edu.au).
A long-term population-based clinical and morbidity
review of Prader–Willi syndrome in Western Australia
A. K. Thomson,
1
E. J. Glasson
1,2
& A. H. Bittles
1
1 Centre for Human Genetics, Edith Cowan University, Perth, Australia
2 School of Population Health and Centre for Child Health Research, University of Western Australia, Perth, Australia
Abstract
Background An investigation of the clinical morbid-
ity and genetic profiles of individuals with Prader–
Willi syndrome (PWS) in Western Australia (WA)
was undertaken as part of a wider study into the
effects of intellectual disability (ID) on the life course
of individuals.
Methods All persons with a diagnosis of PWS were
identified from the records of the Disability Services
Commission of WA (DSC). The DSC client files
formed the main data source, and were supple-
mented by information from other state health data
sets. The analysis was retrospective and quantitative
in nature.
Results A total of individuals were identified,
of whom exhibited normal methylation patterns and
so were analysed separately (PWS-like). The ages of
the PWS group ranged from . to . years, with
six persons deceased. Most people with PWS ( %)
had mild or moderate ID, and % lived in their
family home. The birth prevalence of the disorder was
in births. Respiratory disorders, dentistry
and gastrointestinal disorders were common reasons
for hospital admission, with epilepsy or convulsions
also reported at moderate frequency. The PWS-like
group shared many clinical features in common with
PWS patients, the principal exceptions being hypo-
tonia and feeding difficulties in infancy.
Conclusions The estimated birth prevalence of PWS
was lower than expected; however, the case ascertain-
ment method may have excluded some individuals.
Older people with PWS were generally living in shel-
tered accommodation. As the cohort ages, demand
for places in similar accommodation will increase,
adding to the existing burden on service providers.
Substantial future increases in the use of medical
services and hospital-based care also are predicted
with the onset of age-associated disorders.
Keywords ageing, genomic imprinting, intellectual
disability, morbidity, Prader–Willi syndrome
Introduction
Prader–Willi syndrome (PWS) is a chromosomal dis-
order caused by absence of the paternal imprint from
the chr q –q region. The syndrome has an esti-
mated prevalence rate of per – births
(Stromme ; Whittington et al. ; Smith et al.
), and was first described by Prader et al. ( ).
Symptoms common to most patients are intellectual