Prader-Willi syndrome

References

Key articles

Duis J, van Wattum PJ, Scheimann A, et al. A multidisciplinary approach to the clinical management of Prader-Willi syndrome. Mol Genet Genomic Med. 2019 Mar;7(3):e514.Full text  Abstract

McCandless SE, Committee on Genetics. Clinical report - health supervision for children with Prader-Willi syndrome. Pediatrics. 2011 Jan;127(1):195-204.Full text  Abstract

International Prader-Willi Syndrome Organisation. Guides for doctors: consensus documents. [internet publication].Full text

Reference articles

1. Duis J, van Wattum PJ, Scheimann A, et al. A multidisciplinary approach to the clinical management of Prader-Willi syndrome. Mol Genet Genomic Med. 2019 Mar;7(3):e514.Full text  Abstract

2. McCandless SE, Committee on Genetics. Clinical report - health supervision for children with Prader-Willi syndrome. Pediatrics. 2011 Jan;127(1):195-204.Full text  Abstract

3. International Prader-Willi Syndrome Organisation. Guides for doctors: consensus documents. [internet publication].Full text

4. Butler MG. Prader-Willi syndrome: current understanding of cause and diagnosis. Am J Med Genet. 1990 Mar;35(3):319-32.Full text  Abstract

5. Proffitt J, Osann K, McManus B, et al. Contributing factors of mortality in Prader-Willi syndrome. Am J Med Genet A. 2019 Feb;179(2):196-205.Full text  Abstract

6. Butler MG, Manzardo AM, Heinemann J, et al. Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey. Genet Med. 2017 Jun;19(6):635-42.Full text  Abstract

7. Lionti T, Reid SM, Rowell MM. Prader-Willi syndrome in Victoria: mortality and causes of death. J Paediatr Child Health. 2012 Jun;48(6):506-11. Abstract

8. Grugni G, Crinò A, Bosio L, et al. The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A. 2008 Apr 1;146A(7):861-72. Abstract

9. Schrander-Stumpel CT, Curfs LM, Sastrowijoto P, et al. Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A. 2004 Feb 1;124A(4):333-8. Abstract

10. Stevenson DA, Anaya TM, Clayton-Smith J, et al. Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals. Am J Med Genet A. 2004 Jan 15;124A(2):158-64. Abstract

11. Butler MG, Thompson T. Prader-Willi syndrome: clinical and genetic findings. Endocrinologist. 2000 Jul;10(4 suppl 1):3S-16S.Full text  Abstract

12. Butler MG, Weaver DD, Meaney FJ. Prader-Willi syndrome: are there population differences? Clin Genet. 1982 Nov;22(5):292-4.Full text  Abstract

13. Butler MG. Prader-Willi Syndrome: Obesity due to genomic imprinting. Curr Genomics. 2011 May;12(3):204-15.Full text  Abstract

14. Bittel DC, Butler MG. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005 Jul 25;7(14):1-20.Full text  Abstract

15. Hartin SN, Hossain WA, Weisensel N, et al. Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review. Am J Med Genet A. 2018 Apr;176(4):886-95.Full text  Abstract

16. Robinson WP, Langlois S, Schuffenhauer S, et al. Cytogenetic and age-dependent risk factors associated with uniparental disomy 15. Prenat Diagn. 1996 Sep;16(9):837-44. Abstract

17. Butler MG, Miller JL, Forster JL. Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: An Update. Curr Pediatr Rev. 2019;15(4):207-44.Full text  Abstract

18. Gold JA, Ruth C, Osann K, et al. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology. Genet Med. 2014 Feb;16(2):164-9.Full text  Abstract

19. Cassidy SB, Driscoll DJ. Prader-Willi syndrome. Eur J Hum Genet. 2009 Jan;17(1):3-13.Full text  Abstract

20. Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet. 1997 Sep;17(1):12-3. Abstract

21. Sahoo T, del Gaudio D, German JR, et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet. 2008 Jun;40(6):719-21.Full text  Abstract

22. Khan MJ, Gerasimidis K, Edwards CA, et al. Mechanisms of obesity in Prader-Willi syndrome. Pediatr Obes. 2018 Jan;13(1):3-13. Abstract

23. Butler MG, Hossain WA, Tessman R, et al. Preliminary observations of mitochondrial dysfunction in Prader-Willi syndrome. Am J Med Genet A. 2018 Dec;176(12):2587-94.Full text  Abstract

24. Grootjen LN, Uyl NEM, van Beijsterveldt IALP, et al. Prenatal and neonatal characteristics of children with Prader-Willi syndrome. J Clin Med. 2022 Jan 28;11(3):679.Full text  Abstract

25. Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2023 [internet publication].Full text  Abstract

26. Goldstone AP, Holland AJ, Hauffa BP, et al. Recommendations for the diagnosis and management of Prader-Willi syndrome. J Clin Endocrinol Metab. 2008 Nov;93(11):4183-97.Full text  Abstract

27. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 ​[internet publication].Full text

28. Miller JL, Lynn CH, Driscoll DC, et al. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 2011 May;155A(5):1040-9.Full text  Abstract

29. Centers for Disease Control and Prevention. Healthy weight, nutrition, and physical activity:other factors in weight gain. Jun 2022 [internet publication].Full text

30. Beauloye V, Dhondt K, Buysse W, et al. Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome. Orphanet J Rare Dis. 2015 Sep 2;10:106.Full text  Abstract

31. Rosenberg AGW, Pellikaan K, Poitou C, et al. Central adrenal insufficiency is rare in adults with Prader-Willi syndrome. J Clin Endocrinol Metab. 2020 Jul 1;105(7):e2563-71.Full text  Abstract

32. Veatch OJ, Malow BA, Lee HS, et al. Evaluating sleep disturbances in children with rare genetic neurodevelopmental syndromes. Pediatr Neurol. 2021 Oct;123:30-7.Full text  Abstract

33. Mahmoud R, Swanson HD, Butler MG, et al. Molecular classes and growth hormone treatment effects on behavior and emotion in patients with Prader-Willi syndrome. J Clin Med. 2022 May 4;11(9):2572.Full text  Abstract

34. Saima S, Ihara H, Ogata H, et al. Relationship between sensory processing and autism spectrum disorder-like behaviors in Prader-Willi syndrome. Am J Intellect Dev Disabil. 2022 May 1;127(3):249-63. Abstract

35. Aman LCS, Manning KE, Whittington JE, et al. Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. Lancet Psychiatry. 2018 Apr;5(4):370-8. Abstract

36. Crinò A, Armando M, Crostelli M, et al. High prevalence of scoliosis in a large cohort of patients with Prader-Willi syndrome. J Clin Med. 2022 Mar 13;11(6):1574.Full text  Abstract

37. Bohonowych JE, Vrana-Diaz CJ, Miller JL, et al. Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry. BMC Ophthalmol. 2021 Aug 12;21(1):296.Full text  Abstract

38. Trizno AA, Jones AS, Carry PM, et al. The prevalence and treatment of hip dysplasia in Prader-Willi syndrome (PWS). J Pediatr Orthop. 2018 Mar;38(3):e151-6. Abstract

39. Verrotti A, Cusmai R, Laino D, et al. Long-term outcome of epilepsy in patients with Prader-Willi syndrome. J Neurol. 2015 Jan;262(1):116-23. Abstract

40. Siemensma EP, de Lind van Wijngaarden RF, Otten BJ, et al. Pubarche and serum dehydroepiandrosterone sulphate levels in children with Prader-Willi syndrome. Clin Endocrinol (Oxf). 2011 Jul;75(1):83-9. Abstract

41. Ramsden SC, Clayton-Smith J, Birch R, et al. Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC Med Genet. 2010 May 11;11:70.Full text  Abstract

42. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):1027-49. Abstract

43. Kagami M, Nagasaki K, Kosaki R, et al. Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. Genet Med. 2017 Dec;19(12):1356-66.Full text  Abstract

44. Gunay-Aygun M, Schwartz S, Heeger S, et al. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 2001 Nov;108(5):E92.Full text  Abstract

45. Holm VA, Cassidy SB, Butler MG, et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 1993 Feb;91(2):398-402.Full text  Abstract

46. Miller JL, Tan M. Dietary management for adolescents with Prader-Willi Syndrome. Adolesc Health Med Ther. 2020;11:113-8.Full text  Abstract

47. Meade C, Martin R, McCrann A, et al. Dietary intake and growth in children with Prader-Willi syndrome. J Hum Nutr Diet. 2021 Oct;34(5):784-91. Abstract

48. Scheimann AO, Miller J, Glaze DG. Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi syndrome: a matched control study. Surg Obes Relat Dis. 2017 Feb;13(2):366. Abstract

49. Liu SY, Wong SK, Lam CC, et al. Bariatric surgery for Prader-Willi syndrome was ineffective in producing sustainable weight loss: long term results for up to 10 years. Pediatr Obes. 2020 Jan;15(1):e12575. Abstract

50. Gantz MG, Driscoll DJ, Miller JL, et al. Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders. Obesity (Silver Spring). 2022 May;30(5):973-81. Abstract

51. Deal CL, Tony M, Höybye C, et al. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013 Jun;98(6):E1072-87.Full text  Abstract

52. Donze SH, Damen L, Mahabier EF, et al. Cognitive functioning in children with Prader-Willi syndrome during 8 years of growth hormone treatment. Eur J Endocrinol. 2020 Apr;182(4):405-11. Abstract

53. Kherra S, Forsyth Paterson W, Cizmecioğlu FM, et al. Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre. Endocr Connect. 2021 Aug 1;10(9):1134-46.Full text  Abstract

54. van Abswoude DH, Pellikaan K, Rosenberg AGW, et al. Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study. J Clin Endocrinol Metab. 2022 Dec 17;108(1):59-84.Full text  Abstract

55. Heksch R, Kamboj M, Anglin K, et al. Review of Prader-Willi syndrome: the endocrine approach. Transl Pediatr. 2017 Oct;6(4):274-85.Full text  Abstract

56. Wong SB, Yang MC, Tzeng IS, et al. Progression of obstructive sleep apnea syndrome in pediatric patients with Prader-Willi Syndrome. Children (Basel). 2022 Jun 17;9(6):912Full text  Abstract

57. Bull LE, Oliver C, Woodcock KA. Skin picking in people with Prader-Willi Syndrome: phenomenology and management. J Autism Dev Disord. 2021 Jan;51(1):286-97. Abstract

58. Miller JL, Angulo M. An open-label pilot study of N-acetylcysteine for skin-picking in Prader-Willi syndrome. Am J Med Genet A. 2014 Feb;164A(2):421-4. Abstract

59. Kennedy D, Marten H, O'Sullivan C, et al. Biological, behavioral, and ethical considerations of Prader-Willi Syndrome: a primer for behavior analysts. Behav Anal Pract. 2021 Jul 8;15(2):562-70.Full text  Abstract

60. Eiholzer U. Deaths in children with Prader-Willi syndrome. A contribution to the debate about the safety of growth hormone treatment in children with PWS. Horm Res. 2005;63(1):33-9. Abstract

61. Tauber M, Diene G, Molinas C, et al. Review of 64 cases of death in children with Prader-Willi syndrome (PWS). Am J Med Genet A. 2008 Apr 1;146A(7):881-7. Abstract

62. Miller JL, Gevers E, Bridges N, et al. Diazoxide choline extended-release tablet in people with Prader-Willi syndrome: a double-blind, placebo-controlled trial. J Clin Endocrinol Metab. 2023 Jan 14;dgad014.Full text  Abstract

63. Dykens EM, Miller J, Angulo M, et al. Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome. JCI Insight. 2018 Jun 21;3(12):e98333.Full text  Abstract

64. Ryman D, Deal CL. Topline results of the CARE-PWS phase 3 study: intranasal carbetocin improves hyperphagia and anxiety and distress symptoms in Prader-Willi syndrome (PWS) J Endocr Soc. 2021 Apr-May; 5(suppl 1):A689.Full text

65. ClinicalTrials.gov. A phase 2 study to evaluate the safety and efficacy of pitolisant in patients with Prader-Willi syndrome, followed by an open label extension. ClinicalTrials.gov Identifier: NCT04257929. May 2023 [internet publication].Full text

66. Ayet-Roger A, Joga-Elvira L, Caixàs A, et al. Cognitive and adaptive effects of early growth hormone treatment in Prader-Willi syndrome patients: a cohort study. J Clin Med. 2022 Mar 14;11(6):1592.Full text  Abstract

67. Dykens EM, Roof E, Hunt-Hawkins H. Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome. J Child Psychol Psychiatry. 2017 Jan;58(1):64-74.Full text  Abstract

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