Respiratory Complications in Children with Prader Willi Syndrome

Summary 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 venti...

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Bibliographic Details
Published in:Paediatric respiratory reviews 2017-03, Vol.22, p.52-59
Main Authors: Tan, H.-L, Urquhart, D.S
Format: Article
Language:English
Subjects:
aspiration
Death, Sudden
Disorders of Excessive Somnolence - epidemiology
Disorders of Excessive Somnolence - physiopathology
growth hormone
Human Growth Hormone - therapeutic use
Humans
Hypercapnia - physiopathology
Hypoventilation - epidemiology
Hypoventilation - physiopathology
Hypoxia - physiopathology
Muscle Hypotonia - epidemiology
Muscle Hypotonia - physiopathology
Obesity - epidemiology
Obesity - physiopathology
Pediatrics
Prader Willi syndrome
Prader-Willi Syndrome - drug therapy
Prader-Willi Syndrome - epidemiology
Prader-Willi Syndrome - physiopathology
Pulmonary/Respiratory
Respiratory Aspiration - epidemiology
Respiratory Aspiration - physiopathology
Scoliosis - epidemiology
Scoliosis - physiopathology
Sleep Apnea Syndromes - epidemiology
Sleep Apnea Syndromes - physiopathology
Sleep Apnea, Central - epidemiology
Sleep Apnea, Central - physiopathology
Sleep Apnea, Obstructive - epidemiology
Sleep Apnea, Obstructive - physiopathology
sleep disordered breathing
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Summary:Summary 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.
ISSN:1526-0542
1526-0550
DOI:10.1016/j.prrv.2016.08.002