Contributing factors of mortality in Prader-Willi syndrome.
Jennifer ProffittKathryn OsannBarbara McManusVirginia E KimonisJanalee HeinemannMerlin G ButlerDavid A StevensonJune-Anne GoldPublished in: American journal of medical genetics. Part A (2018)
Prader-Willi syndrome (PWS) is a multi-system disorder resulting from a lack of paternal gene expression in the 15q11.2-q13 region. Using databases compiled through response questionnaires completed by families known to the Prader-Willi Syndrome Association (USA), this study tested the hypothesis that PWS genetic subtype, BMI, age of diagnosis, clinical symptoms, and growth hormone treatment differ among deceased and living individuals with PWS. Categorical and continuous variables were compared using chi-square and two-group t tests, respectively. Deceased individuals had higher rates of clinical features, including increased weight concerns, heart problems, sleep apnea, other respiratory complications, diabetes, osteoporosis, high pain tolerance, and severe skin picking, when compared to living individuals. Meanwhile, living individuals had higher rates of growth hormone use and early puberty. Obesity and subsequent consequences are the primary contributors to increased mortality in PWS. Additional emphasis on areas to decrease mortality is needed.
Keyphrases
- growth hormone
- sleep apnea
- gene expression
- cardiovascular events
- type diabetes
- risk factors
- weight gain
- weight loss
- body mass index
- case report
- cardiovascular disease
- mental health
- heart failure
- metabolic syndrome
- chronic pain
- dna methylation
- obstructive sleep apnea
- kidney transplantation
- postmenopausal women
- pain management
- positive airway pressure
- genome wide
- neuropathic pain
- atrial fibrillation
- bone mineral density
- spinal cord injury
- coronary artery disease
- soft tissue
- glycemic control
- high fat diet induced
- smoking cessation
- replacement therapy
- postoperative pain