title: Respiratory Complications in Children with Prader Willi Syndrome.
abstract: Prader Willi syndrome, resulting from the partial deletion or lack of expression of a region of genes on the paternal chromosome 15, has a number of phenotypic features which predispose affected patients to ventilatory problems. These include generalised hypotonia, abnormal arousal and ventilatory responses to hypoxia and hypercapnia, scoliosis and frequently, obesity. The spectrum of the resulting respiratory complications thus runs from sleep disordered breathing, to aspiration and respiratory functional impairment. While the use of growth hormone, in conjunction with multidisciplinary clinical management, is currently the cornerstone of clinical care of these patients, concerns have been raised following reports of sudden death shortly after growth hormone initiation. This review summarizes the respiratory complications commonly seen and draws together the published literature on the impact of growth hormone in relation to various respiratory parameters, aiming to provide the reader with the necessary information to manage these patients as safely as possible.
authors.affiliation: Department of Paediatric Respiratory and Sleep Medicine, Royal Brompton Hospital, London. Electronic address: h.tan@rbht.nhs.uk.
authors.forename: H-L
authors.initials: HL
authors.lastname: Tan
authors.affiliation: Department of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Sick Children, Edinburgh; Department of Child Life and Health, University of Edinburgh.
authors.forename: D S
authors.initials: DS
authors.lastname: Urquhart
mesh_terms: D003645:Death, Sudden; D006970:Disorders of Excessive Somnolence / Q000453:epidemiology / Q000503:physiopathology*; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D006935:Hypercapnia / Q000503:physiopathology; D007040:Hypoventilation / Q000453:epidemiology / Q000503:physiopathology; D000860:Hypoxia / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000453:epidemiology / Q000503:physiopathology; D009765:Obesity / Q000453:epidemiology / Q000503:physiopathology*; D011218:Prader-Willi Syndrome / Q000188:drug therapy / Q000453:epidemiology / Q000503:physiopathology*; D053120:Respiratory Aspiration / Q000453:epidemiology / Q000503:physiopathology*; D012600:Scoliosis / Q000453:epidemiology / Q000503:physiopathology*; D012891:Sleep Apnea Syndromes / Q000453:epidemiology / Q000503:physiopathology*; D020182:Sleep Apnea, Central / Q000453:epidemiology / Q000503:physiopathology; D020181:Sleep Apnea, Obstructive / Q000453:epidemiology / Q000503:physiopathology
chemical_list: D019382:Human Growth Hormone
keywords: Prader Willi syndrome; aspiration; growth hormone; sleep disordered breathing