Prader-Willi syndrome is a neurogenetic disorder characterized by a number of signs and symptoms, including muscular hypotonia in infancy, hypogonadism, obesity and short stature. Neurobehavioral abnormalities and cognitive impairment are common. In addition, breathing abnormalities have been described, including sleep-related breathing disorders, abnormal chemoreceptor sensitivity and pulmonary function abnormalities. Growth hormone treatment is now widely used in children with Prader-Willi syndrome to improve growth and body composition. Over the last 4 years, case reports have been published concerning unexpected death, many of which were related to respiratory abnormalities. This review focuses on breathing abnormalities in Prader-Willi syndrome individuals and the influence of obesity, growth hormone treatment and upper respiratory tract infections.

, , ,
doi.org/10.1586/17446651.2.4.529, hdl.handle.net/1765/37113
Expert Review of Endocrinology & Metabolism
Erasmus MC: University Medical Center Rotterdam

Festen, D.A.M, & Hokken-Koelega, A.C.S. (2007). Breathing disorders in Prader-Willi syndrome: The role of obesity, growth hormone treatment and upper respiratory tract infections. Expert Review of Endocrinology & Metabolism (Vol. 2, pp. 529–537). doi:10.1586/17446651.2.4.529