Contributing factors of mortality in Prader–Willi syndrome
| Autor: | Merlin G. Butler, Barbara McManus, Virginia Kimonis, Janalee Heinemann, June‐Anne Gold, Kathryn Osann, Jennifer Proffitt, David A. Stevenson |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Respiratory complications Pediatrics medicine.medical_specialty Adolescent Osteoporosis 030209 endocrinology & metabolism 030105 genetics & heredity Growth hormone Article Body Mass Index Continuous variable Young Adult 03 medical and health sciences 0302 clinical medicine Diabetes mellitus Genetics medicine Humans Longitudinal Studies Obesity Child Genetics (clinical) Aged Aged 80 and over Heart Failure Chromosomes Human Pair 15 business.industry Infant Newborn Infant nutritional and metabolic diseases Sleep apnea Middle Aged medicine.disease nervous system diseases Growth hormone treatment Child Preschool Growth Hormone Paternal Inheritance Female business Prader-Willi Syndrome |
| Zdroj: | American Journal of Medical Genetics Part A. 179:196-205 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.60688 |
| Popis: | 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 related 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. |
| Databáze: | OpenAIRE |
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