A population-based profile of 160 Australians with Prader-Willi syndrome: Trends in diagnosis, birth prevalence and birth characteristics

American Journal of Medical Genetics, Part A

Volumn 167, Issue 2, 2015, Pages 371-378

  Lionti, Tess ^a   Reid, Susan M ^a,b   White, Susan M ^a,b   Rowell, Margaret M ^c  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Birth prevalence; Fetal growth; Genetic diagnosis; Genotype; Gestation; Prader Willi Syndrome

Indexed keywords

ADULT; ARTICLE; AUSTRALIAN; CHILDBIRTH; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC TEST; EARLY DIAGNOSIS; EVIDENCE BASED MEDICINE; FEMALE; HEALTH CARE DELIVERY; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; POPULATION RESEARCH; PRADER WILLI SYNDROME; PREMATURITY; PREVALENCE; PUBLIC HEALTH SERVICE; SMALL FOR DATE INFANT; TREND STUDY; UNIPARENTAL DISOMY; YOUNG ADULT; AUSTRALIA; BIRTH WEIGHT; GENETICS; GESTATIONAL AGE; MIDDLE AGED; NEWBORN; PHENOTYPE; PRADER-WILLI SYNDROME; RISK FACTOR;

ADULT; AUSTRALIA; BIRTH WEIGHT; COHORT STUDIES; FEMALE; GESTATIONAL AGE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PHENOTYPE; PRADER-WILLI SYNDROME; PREVALENCE; RISK FACTORS; YOUNG ADULT;

EID: 84921342619     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36845     Document Type: Article

References (28)

1. Akefeldt A, Gillberg C, Larsson C. 1991. Prader-Willi syndrome in a Swedish rural county: Epidemiological aspects. Dev Med Child Neurol 33:715-721.
2. Australian Bureau of Statistics. 2007. Australia's babies. 41020 Australian Social Trends. Canberra. Australian Government.
3. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls Rd, Horsthemke B. 1995. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400.
4. Burd l, Besely B, martsolf J, Korbeshian J. 1990. Prevalence study of Prader-Willi syndrome in North Dakota. Am J Med GenetPart A 37:97-99.
5. Butler M. 1990. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet Part A 35:319-332.
6. Butler Mg, Sturich J, Myers Se, Gold J-A, Kimonis V, Driscoll DJ. 2009. Is gestation in Prader-Willi syndrome affected by the genetic subtype? J Assist Reprod Genet 26:461-466.
7. Cassidy SB, Forsythe M, Heeger S, Nicholls RD, Schork N, Benn P, Schwartz S. 1997. Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. Am J Med Genet Part A 68:433-440.
8. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. 2012. Prader-Willi syndrome. Genet Med 14:10-26.
9. Consultative Council On Obstetric And Paediatric Mortality And Morbidity. 2012. Annual report for the year 2009. Melbourne: State Government of Victoria.
10. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. 1996. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170.
11. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmid TK, Gillessen-kaesbach G, Horsthemke B. 1992. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:315.
12. Dudley O, Muscatelli F. 2007. Clinical evidence of intrauterine disturbance in Prader-Willi syndrome, a genetically imprinted neurodevelopmental disorder. Early Hum Dev 83:471-478.
13. Ehara H, Kousaku O, Kenzo T. 1995. Frequency of the Prader -Willi syndrome in the San-in district. Japan Brain Dev 17:324-326.
14. Gillessen-Kaesbach G, Robinson W, Lohmann D, Kaya-Westerloh S, Passarge E, Horsthemke B. 1995. Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome. Hum Genet 96:638-643.
15. Grechi E, Cammarata B, Mariani B, Di Candia S, Chiumello G. 2012. Prader-willi syndrome: Clinical aspects. J Obes 473941.
16. Holm A, Cassidy S, Bulter M, Hanchett J, Greenswag L, Whitman B, Greenberg F. 1993. Prader-willi syndrome: Consensus diagnostic criteria. Pediatrics 91:398-402.
17. Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi Syndrome. N Engl J Med 304:325-329.
18. Lionti T, Reid SM, Rowell MM. 2012. Prader-Willi Syndrome in Victoria: Mortality and causes of death. J Paediatr Child Health 48:506-511.
19. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. 1989. Genetic imprinting suggested by maternal heterodisomy in non deletion Prader-Willi Syndrome. Nature 342:281-285.
20. Piedrahita JA. 2011. The role of imprinted genes in fetal growth abnormalities. Birth Defects Res A Clin Mol Teratol 91:682-692.
21. Prader A, Labhart A, Willi H. 1956. Ein syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz Med Wochenschr 86:1260-1261.
22. Roberts C, Lancaster P. 1999. Australian national birth weight percentiles by gestational age. Med J Aust 170:114-118.
23. Schmidt H, Pozza SB-D, Bonfig W, Schwarz HP, Dokoupil K. 2008. Successful early dietary intervention avoids obesity in patients with Prader-Willi syndrome: A ten-year follow-up. J Pediatr Endocrinol 21:651-655.
24. Smith A, Egan J, Ridley G, Haan E, Montgomery P, Williams K, Elliot E. 2003. Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child 88:262-264.
25. Thomson AK, Glasson EJ, Bittles AH. 2006. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia. J Intellect Disabil Res 50:69-78.
26. Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, Fryns JP. 2004. Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet 12:238-240.
27. Whittington J, Bulter J, Holland A. 2007. Changing rates of genetic subtypes of Prader-Willi syndrome in the UK. Eur J Hum Genet 15:127-130.
28. Whittington J, Holland A, Webb T, Butler J, Clarke D, Boer H. 2001. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. J Med Genet 38:792-798.