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Contributing Factors of Mortality in Prader-Willi Syndrome

  • Author(s): Wallace, Jennifer Nicole
  • Advisor(s): Kimonis, Virginia E
  • et al.
Abstract

Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple body systems. It occurs in 1/10,000 - 1/29,000 people, affecting both males and females equally in all ethnicities. The purpose of this study was to identify the average age and causes of death among the Prader-Willi Syndrome Association (USA) group of patients. In addition, this study tested the main hypothesis that genetic subtype, BMI, age of diagnosis, clinical symptoms, and growth hormone treatment differ among deceased and living individuals with PWS.

This study relied on two databases compiled through familial-response questionnaires by the Prader-Willi Syndrome Association (USA) containing a total of 2,028 individuals with PWS, including 114 deceased patients and 1,914 living patients. Living and deceased patients were compared using chi-square tests for categorical variables and two-group t-tests for continuous variables.

The oldest living individual was 84 years old. The average age of death was 31.57 years with the youngest dying at 1 and the oldest individual dying at 59 years of age. The most frequent causes of death fell into the categories of cardio-respiratory, infection, accident, gastro-intestinal problems, and kidney failure. Deceased individuals with PWS had lower rates of growth hormone use as well as higher rates of specific clinical features, including BMI, heart problems, respiratory complications, sleep apnea, weight concerns, diabetes, osteoporosis, high pain tolerance, and skin picking behaviors, when compared to living individuals with PWS. These factors may contribute to increased mortality in patients with PWS, though further investigation and discussion is needed.

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