Biography
Biography: Mary Cataletto
Abstract
Prader-Willi Syndrome Center at Winthrop University Hospital, Mineola, N.Y. Prader-Will syndrome is a complex, multisystem genetic disorder caused by lack of expression of genes located on the paternally inherited chromosome 15q11.2-q13 region. The phenotype is likely due to hypothalamic dysfunction which is responsible for hyperphagia, temperature instability and multiple endocrine abnormalities including growth hormone and thyroid stimulating hormone deficiencies. Hypersomnolence is an important feature of Prader Willi syndrome, reported in 70 to 100 % of adults with PWS and has been a major focus of clinical research over the past ten years. This presentation will update practitioners on clinical issues surrounding hypersomnolence, sleep disordered breathing and daytime function in individuals with Prader-Willi syndrome.