Abstract
The identification of all people with a diagnosis of Prader–Willi syndrome (PWS) confirmed by DNA methylation analysis living in Flanders was attempted through contact with the four genetic centres and the PWS Association. The birth incidence for the period 1993–2001 was 1:26 676, the minimum prevalence at 31 December 2001 was 1:76 574. A decreasing number of cases with age was found, which can be explained by a number of missing cases in the older population, a higher neonatal mortality in the past and an increasing mortality with age. Childhood death is usually sudden and associated with respiratory infection and high temperature, while the cause of death in adults is considered to be circulatory or respiratory in origin.
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References
Cassidy SB : Prader–Willi syndrome. J Med Genet 1997; 34: 917–923.
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD : Deletions of chromosome 15 as a cause of the Prader–Willi syndrome. N Engl J Med 1981; 304: 325–329.
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M : Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader–Willi syndrome. Nature 1989; 342: 281–285.
Robinson WP, Bottani A, Xie YG et al: Molecular, cytogenetic, and clinical investigations of Prader–Willi syndrome patients. Am J Hum Genet 1991; 49: 1219–1234.
Buiting K, Saitoh S, Gross S et al: Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 1995; 9: 395–400.
Nicholls RD, Saitoh S, Horsthemke B : Imprinting in Prader–Willi and Angelman syndromes. Trends Genet 1998; 14: 194–200.
Dittrich B, Robinson WP, Knoblauch H et al: Molecular diagnosis of the Prader–Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11–13. Hum Genet 1992; 90: 313–315.
Burd L, Vesely B, Martsolf J, Kerbeshian J : Prevalence study of Prader–Willi syndrome in North Dakota. Am J Med Genet 1990; 37: 97–99.
Akefeldt A, Gillberg C, Larsson C : Prader–Willi syndrome in a Swedish rural county: epidemiological aspects. Dev Med Child Neurol 1991; 33: 715–721.
Ehara H, Ohno K, Takeshita K : Frequency of the Prader–Willi syndrome in the San-in district, Japan. Brain Dev 1995; 17: 324–326.
Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H : Population prevalence and estimated birth incidence and mortality rate for people with Prader–Willi syndrome in one UK Health Region. J Med Genet 2001; 38: 792–798.
Stevenson DAATM, Clayton-Smith J, Hall BD et al: Unexpected death and critical illness in Prader–Willi syndrome: report of ten individuals. Am J Med Genet Part A 2003, Early view: June 16 (in press, online available at www3.interscience.wiley.com/cgi-bin/jissue/77002064).
Schrander-Stumpel CTRM, Curfs LMG, Sastrowijoto P, Cassidy SB, Schrander JJP, Fryns JP : Prader–Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet Part A 2003, Early view: June 16 (in press, online available at www3.interscience.wiley.com/cgi-bin/jissue/77002064).
Smith A, Egan J, Ridley G et al: Birth prevalence of Prader–Willi syndrome in Australia. Arch Dis Child 2003; 88: 263–264.
Poulain M, Tabutin D : Mortality at a young age in Belgium from 1840 to 1970]. Popul Famille 1977; 42: 49–86.
Dujardin B, Vandenbussche P, Buekens P, Wollast E : Evoluton récente de la mortalité infantile. Le cas de Belgique [Recent trends in infant mortality. The case of Belgium]. Arch Fr Pediatr 1986; 43: 275–278.
Acknowledgements
We thank Professor Dr G Matthys for the molecular analysis and the Flemish PWS association for their help with this study.
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Vogels, A., Van Den Ende, J., Keymolen, K. et al. Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders. Eur J Hum Genet 12, 238–240 (2004). https://doi.org/10.1038/sj.ejhg.5201135
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DOI: https://doi.org/10.1038/sj.ejhg.5201135
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