Prader-Willi Syndrome - Bibliography

Alexander RC, Greenswag LR, Nowak AJ.
Rumination and vomiting in Prader-Willi syndrome.
Am J Med Genet. 1987;28(4):889-95. PubMed abstract

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, 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; 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.

Butler MG, Meaney FJ.
Standards for selected anthropometric measurements in Prader-Willi syndrome.
Pediatrics. 1991;88(4):853-60. PubMed abstract

Cassidy SB, Driscoll DJ.
Prader-Willi syndrome.
Eur J Hum Genet. 2008;. 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.

Festen DA, de Weerd AW, van den Bossche RA, Joosten K, Hoeve H, Hokken-Koelega AC.
Sleep-related breathing disorders in prepubertal children with Prader-Willi syndrome and effects of growth hormone treatment.
J Clin Endocrinol Metab. 2006;91(12):4911-5. PubMed abstract

Forster, JL, and Gourash, LM.
Personal communication.
2008;

Goldberg DL, Garrett CL, Van Riper C, Warzak WJ.
Coping with Prader-Willi syndrome.
J Am Diet Assoc. 2002;102(4):537-42. PubMed abstract

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 The guidelines were developed from published evidence-based data, unpublished data from personal experience, previous National and International PWS Conferences and Prader-Willi Syndrome Association (USA) Clinical Advisory Groups.

Grugni G, Crinò A, Bosio L, Corrias A, Cuttini M, De Toni T, Di Battista E, Franzese A, Gargantini L, Greggio N, Iughetti L, Livieri C, Naselli A, Pagano C, Pozzan G, Ragusa L, Salvatoni A, Trifirò G, Beccaria L, Bellizzi M, Bellone J, Brunani A, Cappa M, Caselli G, Cerioni V, Delvecchio M, Giardino D, Iannì F, Memo L, Pilotta A, Pomara C, Radetti G, Sacco M, Sanzari A, Sartorio A, Tonini G, Vettor R, Zaglia F, Chiumello G.
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.
Am J Med Genet A. 2008;146(7):861-72. PubMed abstract

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
Pediatrics. 2001;108(5):E92. PubMed abstract / Full Text

Haqq AM, Stadler DD, Jackson RH, Rosenfeld RG, Purnell JQ, LaFranchi SH.
Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome.
J Clin Endocrinol Metab. 2003;88(5):2206-12. PubMed abstract

Hawkey CJ, Smithies A.
The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
J Med Genet. 1976;13(2):152-7. PubMed abstract / Full Text
Includes images of facial and genital characteristics.

Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F.
Prader-Willi syndrome: consensus diagnostic criteria.
Pediatrics. 1993;91(2):398-402. PubMed abstract / Full Text

Holm VA, Pipes PL.
Food and children with Prader-Willi syndrome.
Am J Dis Child. 1976;130(10):1063-7. PubMed abstract

Kroonen LT, Herman M, Pizzutillo PD, Macewen GD.
Prader-Willi Syndrome: clinical concerns for the orthopaedic surgeon.
J Pediatr Orthop. 2006;26(5):673-9. PubMed abstract

Loos HS, Wieczorek D, Würtz RP, von der Malsburg C, Horsthemke B.
Computer-based recognition of dysmorphic faces.
Eur J Hum Genet. 2003;11(8):555-60. PubMed abstract / Full Text
Includes images of facial characteristics.

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

Miller J, Silverstein J, Shuster J, Driscoll DJ, Wagner M.
Short-term effects of growth hormone on sleep abnormalities in Prader-Willi syndrome.
J Clin Endocrinol Metab. 2006;91(2):413-7. PubMed abstract

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE.
Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Pediatr Neurol. 2007;37(4):299-302. PubMed abstract / Full Text

Safer, J.
The Normal One.
New York: Delta/Random House; 2002. 0-385-33756-6
This book was written by a psychotherapist and "normal" sibling of a child with special needs after many years of experience and research into the impact of children with special needs on typically developing siblings.

Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W.
Critical analysis of bariatric procedures in Prader-Willi syndrome.
J Pediatr Gastroenterol Nutr. 2008;46(1):80-3. 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

Shapira NA, Lessig MC, Murphy TK, Driscoll DJ, Goodman WK.
Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome.
Int J Neuropsychopharmacol. 2002;5(2):141-5. PubMed abstract

Sone S.
Muscle histochemistry in the Prader-Willi syndrome.
Brain Dev. 1994;16(3):183-8. PubMed abstract

Stevenson DA, Anaya TM, Clayton-Smith J, Hall BD, Van Allen MI, Zori RT, Zackai EH, Frank G, Clericuzio CL.
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
Am J Med Genet A. 2004;124A(2):158-64. PubMed abstract

Tauber M, Diene G, Molinas C, Hébert M.
Review of 64 cases of death in children with Prader-Willi syndrome (PWS).
Am J Med Genet A. 2008;146(7):881-7. PubMed abstract

Wigren M, Hansen S.
ADHD symptoms and insistence on sameness in Prader-Willi syndrome.
J Intellect Disabil Res. 2005;49(Pt 6):449-56. PubMed abstract

Wilson TA, Rose SR, Cohen P, Rogol AD, Backeljauw P, Brown R, Hardin DS, Kemp SF, Lawson M, Radovick S, Rosenthal SM, Silverman L, Speiser P.
Update of guidelines for the use of growth hormone in children: the Lawson Wilkins Pediatric Endocrinology Society Drug and Therapeutics Committee.
J Pediatr. 2003;143(4):415-21. 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.