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Description and Cause
Prader-Willi Syndrome is a neurobehavioral genetic disorder resulting from one of three genetic causes: (1) a paternal deletion on the long arm of chromosome 15 in 70% of cases; (2) uniparental disomy (both chromosomes 15 of maternal origin) 15 in 25% of cases; or (3) an imprinting defect in 5% of cases. (Note: Angelman Syndrome is often discussed with Prader-Willi Syndrome because they share a similar genetic basis; return to the index to view a document on Angelman Syndrome.)
Diagnosis is by chromosomal fine structural analysis, fluorescent antibody in situ hybridization (FISH), or DNA probe. DNA probe analysis, where available, is the technique of choice and is required in order to recognize uniparental disomy.
Note: Many of these associations are secondary results of obesity and, therefore, may be preventable.
MEDICAL MANAGEMENT CONSIDERATIONS
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Note: These considerations are in addition to the normal medical care provided to an individual without Prader-Willi Syndrome. All recommendations can be addressed through clinical examination by the primary care provider, unless otherwise noted.
General physical health usually remains good in persons with Prader-Willi Syndrome unless obesity becomes severe. Typically, the focus of medical management is on maintaining a strict diet of regular, balanced meals. Food restriction can be very challenging and may impact the entire family system. Siblings, extended family members, neighbors, friends, educators and all other caregivers must receive appropriate education and counseling regarding food restriction and the child’s diet. The need to restrict and/or lock food may complicate family interactions and activities, and may cause stress for everyone involved. Siblings may require special support and counseling to help them understand and adjust to these issues.
Ongoing (all ages)
Infancy (Birth to 1 year)
Early Childhood (1 to 5 years)
Late Childhood (5 to 13 years)
Adolescence and Adulthood (13 years and over)
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Peer-reviewed Journal Articles/Academies
Greaves, N. et al. (2006). Repetitive and Ritualistic Behavior in Children with Prader-Willi Syndrome and Children with Autism. Journal of Intellectual Disability Research, 50, 92-100.
Hanchett, J., Greenswag, L. (1998). Health Care Guidelines for Individuals with Prader-Willi Syndrome. The Scientific Advisory Board of the Prader-Willi Syndrome Association. Retrieved April 18, 2006.
Hoffman, C.J, et al. (1992). A Nutrition Survey of and Recommendations for Individuals with Prader-Willi Syndrome Who Live in Group Homes. Journal of the American Dietetic Association 92(7), 823-830.
Ince, E. et al (2005). Characteristics of Hyperthermia and its Complications in Patients with Prader-Willi Syndrome, Pediatrics International, 47(5), 550-553.
Marin, A. et al. (1998). Prader-Willi Syndrome. American Journal of Psychiatry, 155(9), 1265-1273.
Miller, J. et al. (2005). Short-term Effects of Growth hormone on Sleep Abnormalities in Prader-Willi Syndrome. Journal of Clinical Endocrinology and Metabolism. 91(2), 413-417.
O’ Donoghue, F.J. et al. (2005). Sleep-Disordered Breathing in Prader-Willi Syndrome and its Association with neurobehavioral abnormalities. The Journal of Pediatrics, 147, 823-829.
Pavone, M. et al. (2006). Adenotosillectomy for Obstructive Sleep Apnea in Children with Prader-Willi Syndrome, Pediatric Pulmonology, 41, 74-79.
Riedl, S. et al. (2000). Death in Two female Prader-Willi Syndrome Patients during the Early Phase of Growth Hormone Treatment. Acta Paediatrica, 94(7), 974-977.
Tu, J. et al. (1992). Psychopharmacogenetic Aspects of Prader-Willi Syndrome. Journal of the American Academy of Child and Adolescent Psychiatry, 31(6) 1137-1140.
Wattendorf, D.J., Muenke, M. (2005). Prader-Willi Syndrome. American Academy of Family Physician, 72(5), 827 830.
Wodarski, L.A., et al. (1988). Interdisciplinary Case Management: A Model for Intervention for a Patient with Prader-Willi Syndrome. Journal of the American Dietetic Association, 88(3), 332-335.
Carrel, A.L. et al. (2002) Benefits of Long-term Growth Hormone Therapy in Prader-Willi Syndrome: A 4 year study. Journal of Clinical Endocrinology & Metabolism, 87, 581-1585
Special Interest Groups/Other Publications
Batshaw, M.L., Perret, Y.M. (1992). Children with Disabilities. Baltimore: Paul H. Brookes Publishing.
Cassidy, S.B. (2005). Prader-Willi Syndrome. In Cassidy, S.B., Allanson, J.E. (eds.) Management of Genetic Syndromes (2nd ed., pp. 429-480) New York: John Wiley & Sons.
Capute, A.J., Accardo, P.J. (1996). Developmental Disabilities in Infancy and Childhood vol. I: Neurodevelopmental Diagnosis and Treatment. Baltimore: Paul H. Brookes Publishing.
Capute, A.J., Accardo. P.J. (1996). Developmental Disabilities in Infancy and Childhood vol. II: The Spectrum of Developmental Disabilities. Baltimore: Paul H. Brookes Publishing.
Dambro, M.R. (1999). Griffith’s 5 Minute Clinical Consult. Baltimore: Lippincott Williams & Wilkins, p. 1218.
Greenswag, L.R., Alexander R.C. (1995). Management of Prader-Willi Syndrome (2nd Ed.) New York: Springer-Verlag.
Hagerman, R.J. (1999). Angelman Syndrome and Prader-Willi Syndrome. In Neurodevelopmental Disorders: Diagnosis and Treatment (pp. 243-290). New York: Oxford University Press.
Rubin, I. Leslie and Allen C. Crocker. 1989. Developmental Disabilities: Delivery of Medical Care for Children and Adults. Philadelphia: Lea & Febiger.
RESOURCES FOR FAMILIES
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California Department of Developmental Services
California Regional Centers
Exceptional Parent Magazine
March of Dimes Birth Defects Foundation
Prader-Willi California Foundation
The Prader-Willi Connection
The Prader-Willi Foundation, Inc.
Prader-Willi Syndrome Association (USA)
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Theodore A. Kastner, M.D., M.S.
Felice Weber Parisi, M.D., M.P.H.
Robin L. Hansen, M.D.
Joan M. Reese, M.D., M.P.H.
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This document does not provide advice regarding medical diagnosis or treatment for any individual case, and any opinions or statements contained in this document are not intended to serve as a standard of medical care. Physicians are encouraged to view the considerations presented in this document in light of evolving scientific information. This document is not intended for use by the layperson. Reproduction of this document may be done with proper credit given to California Department of Developmental Services.
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