1. Respiratory Complications in Children with Prader Willi Syndrome.
- Author
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Tan HL and Urquhart DS
- Subjects
- Death, Sudden, Disorders of Excessive Somnolence epidemiology, Human Growth Hormone therapeutic use, Humans, Hypercapnia physiopathology, Hypoventilation epidemiology, Hypoventilation physiopathology, Hypoxia physiopathology, Muscle Hypotonia epidemiology, Muscle Hypotonia physiopathology, Obesity epidemiology, Prader-Willi Syndrome drug therapy, Prader-Willi Syndrome epidemiology, Respiratory Aspiration epidemiology, Scoliosis epidemiology, Sleep Apnea Syndromes epidemiology, Sleep Apnea, Central epidemiology, Sleep Apnea, Central physiopathology, Sleep Apnea, Obstructive epidemiology, Sleep Apnea, Obstructive physiopathology, Disorders of Excessive Somnolence physiopathology, Obesity physiopathology, Prader-Willi Syndrome physiopathology, Respiratory Aspiration physiopathology, Scoliosis physiopathology, Sleep Apnea Syndromes physiopathology
- 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., (Copyright © 2016 Elsevier Ltd. All rights reserved.)
- Published
- 2017
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