Causes of Death in Prader-Willi Syndrome Utilizing the Prader-Willi Syndrome Association USA Bereavement Program: Documentation of a Functional Infrastructure
David A. Stevenson1, Janalee Heinemann2, Moris Angulo3, Merlin G. Butler4, Jim Loker5 , Norma Rupe2, Ann Scheimann6
1Division of Medical Genetics, University of Utah, Salt Lake City, UT 2Prader-Willi Syndrome Association (USA), Sarasota, FL 3Department of Pediatrics, Winthrop University Hospital, Mineola, NY 4Children's Mercy Hospitals and Clinics and University of Missouri-Kansas City School of Medicine, Kansas City, MO 5Bronson Methodist Hospital, Kalamazoo, MI 6Baylor College of Medicine, Johns Hopkins Hospital, Baltimore, MD
Prader-Willi syndrome (PWS) is the most common known genetic cause of life threatening obesity -- yet obesity is not the direct cause of all PWS deaths. Few studies have evaluated the causes of death in PWS, and autopsy reports are rarely performed. The largest studies of PWS deaths have been documented by Dr. SchranderStumpel1, who reported on 27 deaths in PWS, and by Smith et al. at the 2001 Prader-Willi Syndrome Association (PWSA) International Conference on 32 PWS deaths from Australia2. The report by Smith et al.2 concluded that death in PWS individuals was occurring at a younger age compared to the general population (56% died between ages 11-25). Another study by Stevenson, et al.3, documented cases of unexplained death in PWS particularly in infants and children.
The PWSA (USA) has a bereavement program in which families who contact the PWSA receive supportive bereavement information twice in the first year following a death, and once in the second year. Through this program cursory data on causes of death have been collected. A brief survey was created in 1999 and consistent tracking of deaths by the bereavement coordinator began in 2001. A committee consisting of various subspecialists was created, and in 2005 a detailed questionnaire addressing perceived research questions was created through this collaborative group. Families have been subsequently offered the opportunity to fill out this new questionnaire and release medical records including autopsy reports.
Results and Discussion
The PWSA has demographic information on 147 individuals and over 25% died in the first 18 years of life. Requests for information through a family-completed questionnaire were sent and to date we have received 28 completed questionnaires. Autopsy reports have been received on 12 individuals. This documents a functional infrastructure to systematically collect clinical history information and necropsy data on Prader-Willi syndrome individuals. Future results from this study could help delineate causes of death and early demise in Prader-Willi syndrome patients in order to provide clinicians with guidance in patient management to decrease morbidity and mortality. Identification of preventive measures and education (i.e. Heimlich maneuver if choking is a major contributor) may be of some benefit.
1 Smith, et al. Young age at demise among persons with Prader-Willi syndrome (PWS). 2001 International PWSA Conference, abstract. 2 Schrander-Stumpel, et al. Prader–Willi syndrome: Causes of death in an international series of 27 cases. Am J Med Genet 2004;124A:333-338. 3 Stevenson, et al. Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals. Am J Med Genet 2004;124A:158-164.