Sleep and breathing in Prader-Willi syndrome

Gillian M. Nixon, Robert T. Brouillette

Research output: Contribution to journalArticleResearchpeer-review

154 Citations (Scopus)

Abstract

Prader-Willi syndrome (PWS) is a genetic disorder, with hypotonia being the predominant feature in infancy, and developmental delay, obesity, and behavioral problems becoming more prominent in childhood and adolescence. Children with this disorder frequently suffer from excessive daytime sleepiness and have a primary abnormality of the circadian rhythm of rapid eye movement sleep. They also have primary abnormal ventilatory responses to hypoxia and hypercapnia, and these abnormalities may be exacerbated by obesity. Children with PWS are at risk of a variety of abnormalities of breathing during sleep, including obstructive sleep apnea and sleep-related alveolar hypoventilation. Clinical evaluation should include a careful history of sleep-related symptoms and assessment of the upper airway and lung function. Polysomnography should be considered for those with symptoms suggestive of sleep-disordered breathing. Treatment options depend on the underlying problem, but may include behavioral interventions, weight control, adenotonsillectomy, and nocturnal ventilation.

Original languageEnglish
Pages (from-to)209-217
Number of pages9
JournalPediatric Pulmonology
Volume34
Issue number3
DOIs
Publication statusPublished - 1 Sep 2002
Externally publishedYes

Keywords

  • Cor pulmonale
  • Genetics
  • Obesity
  • Obstructive sleep apnea
  • Polysomnography
  • Prader-Willi syndrome
  • Sleep-disordered breathing
  • Tonsillar hypertrophy
  • Treatment
  • Upper airway obstruction
  • Ventilatory responses

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