Prader-Willi Syndrome - Practice Guidelines & Helpful Articles

Practice Guidelines

Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008;93(11):4183-97. PubMed abstract
Written by an open international multidisciplinary expert group that met in October 2006 in France with 37 invited speakers/session chairs and 85 additional participants. The guidelines were developed from published evidence-based data, unpublished data from personal experience, previous National and International PWS Conferences and Prader-Willi Syndrome Association (USA) Clinical Advisory Groups.

McCandless SE.
Clinical report—health supervision for children with Prader-Willi syndrome.
Pediatrics. 2011;127(1):195-204. PubMed abstract

Helpful Articles

PubMed search on Prader-Willi syndrome: articles over the last 10 years

Bittel DC, Butler MG.
Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.
Expert Rev Mol Med. 2005;7(14):1-20. PubMed abstract
Overview of the syndrome, genetic causes, and research.

Butler MG.
Management of obesity in Prader-Willi syndrome.
Nat Clin Pract Endocrinol Metab. 2006;2(11):592-3. PubMed abstract

Butler MG.
Prader-Willi syndrome: current understanding of cause and diagnosis.
Am J Med Genet. 1990;35(3):319-32. PubMed abstract

Butler MG, Hanchett JM, Thompson T.; Butler MG, Lee PDK, Whitman BY (eds.).
Clincal findings and natural history of Prader-Willi syndrome. In: Management of Prader-Willi Syndrome.
3rd ed. ed. New York: Springer Press; 2007.

Butler MG, Lee PDK, Whitman BY.
Management of Prader-Willi Syndrome.
3rd ed ed. New York, NY: Springer-Verlag Publisher; 2010.

Butler MG, Lee PDK, Whitman, BY; ed.
Management of Prader-Willi Syndrome.
3rd ed. New York, NY: Springer Verlag Inc.; 2006. 0387253971
Overview of the syndrome and natural history; diagnosis and genetics; medical physiology; and treatment and multidisciplinary management.

Cassidy SB, Driscoll DJ.
Prader-Willi syndrome.
Eur J Hum Genet. 2009;17(1):3-13. PubMed abstract

Cassidy, SR and Schwartz, S.
Prader-Willi syndrome.
GeneReviews, National Center for Biotechnology Information; (2008) http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws. Accessed on 12/8/2008.
Comprehensive overview of PWS, including clinical description, management, and genetics.

Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M.
Recommendations for the diagnosis and management of Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008;93(11):4183-97. PubMed abstract
Written by an open international multidisciplinary expert group that met in October 2006 in France with 37 invited speakers/session chairs and 85 additional participants. The guidelines were developed from published evidence-based data, unpublished data from personal experience, previous National and International PWS Conferences and Prader-Willi Syndrome Association (USA) Clinical Advisory Groups.

Meaney FJ, Butler MG.
Craniofacial variation and growth in the Prader-Labhart-Willi syndrome.
Am J Phys Anthropol. 1987;74(4):459-64. PubMed abstract

Schrander-Stumpel CT, Sinnema M, van den Hout L, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Wagemans A, Schrander JJ, Curfs LM.
Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.
Am J Med Genet C Semin Med Genet. 2007;145C(3):241-7. PubMed abstract

de Lind van Wijngaarden RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC.
High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008;93(5):1649-54. PubMed abstract

multiple authors.
Prader-Willi syndrome.
Online Medelian Inheritance in Man (OMIM); (2008) http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270. Accessed on 12/8/2008.
Extensive review of the history of scientifc understanding of PWS and its clinical features, inheritance, cytogenetics, etc.

Funding/Support

This module was developed in partnership with the Heartland Regional Genetics and Newborn Screening Collaborative Heartland Regional Genetics and Newborn Screening Collaborative and was funded in part by a Health Resources Services Administration (HRSA) cooperative agreement (U22MC03962).

We appreciate the Prader-Willi Syndrome Association (USA) for their outstanding support of individuals with PWS and their families and for the information they provide on their website – www.pwsausa.org – to which we have provided several links within the Diagnosis Module.