The European Journal of Public Health Advance Access originally published online on July 19, 2006
The European Journal of Public Health 2007 17(2):221-225; doi:10.1093/eurpub/ckl103
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Miscellaneous |
The four ages of Down syndrome
Alan H. Bittles1,2, Carol Bower3,4, Rafat Hussain1,5 and Emma J. Glasson1,3,6
1 Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia
2 Centre for Comparative Genomics, Murdoch University Perth, Australia
3 Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia Perth, Australia
4 WA Birth Defects Registry, King Edward Memorial Hospital Perth, Australia
5 School of Health, University of New England Armidale, Australia
6 School of Population Health, University of Western Australia Perth, Australia
Correspondence: Professor A.H. Bittles, Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth WA 6027, Australia, tel: +61 8 6304 5623; fax: +61 8 6304 5851, e-mail: a.bittles{at}ecu.edu.au
Received January 13, 2006 , accepted May 18, 2006
Background: Down syndrome (DS) affects 
1 per 650–1000 live births and is the most common known genetic cause of intellectual disability. A highly significant change in the survival of people with DS has occurred during the last two generations, with life expectancy estimates increasing from 12 to nearly 60 years of age. Subjects and Methods: Detailed information on 1332 people in Western Australia with DS was abstracted from a specialist statewide database for the period 1953–2000 and electronically linked with three other state or national health and mortality data sources and the state Birth Defects Registry. Results: Over the last 25 years the percentage of women over 35 years giving birth increased from 4.8 to 18.6%, accompanied by an increase in the overall prevalence of DS from 1.1 to 2.9 per 1000 births. Four life stages of DS were identified: prenatal, childhood and early adulthood, adulthood, and senescence. Although pneumonia, or other types of respiratory infections, was the most common cause of death across the entire lifespan, ranging from 23% of deaths in adulthood to 40% in senescence, each life stage exhibited a particular profile of comorbidities. Congenital heart defects were common causes in childhood (13%) and adulthood (23%), whereas in senescence coronary artery disease (10%) and cardiac, renal, and respiratory failure (9%) were leading causes of mortality. Conclusions: A major re-appraisal in attitudes towards DS is required to ensure that the medical and social needs of people with the disorder are adequately met across their entire lifespan. In particular, specific recognition of the comorbidities that can arise at different ages is needed, accompanied by the provision of appropriate levels of care and management.
Keywords: comorbidity, data linkage, Down syndrome, life expectancy, life stages, mortality