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Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

Emily S Gillett1, Iris A Perez2

  • 1Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Mailstop #83, Los Angeles, CA 90027, USA. egillett@chla.usc.edu.

Diseases (Basel, Switzerland)
|September 22, 2017
PubMed

Insights

Prader-Willi syndrome (PWS) involves genetic defects causing breathing problems and sleep apnea. Management includes addressing obesity, using CPAP, and considering growth hormone therapy for better health outcomes.

Area of Science:

  • Genetics
  • Pulmonology
  • Endocrinology

Background:

  • Prader-Willi syndrome (PWS) is a genetic disorder affecting chromosome 15q11.2-q13, leading to distinct clinical features.
  • Individuals with PWS exhibit impaired ventilatory control, craniofacial abnormalities, hypotonia, and hypothalamic dysfunction, predisposing them to sleep disordered breathing.
  • The PWS phenotype progresses from infantile failure to thrive to childhood hyperphagia and obesity, with evolving sleep disordered breathing patterns.

Purpose of the Study:

  • To detail the characteristic ventilatory control deficits, sleep disordered breathing (SDB), and excessive daytime sleepiness (EDS) in Prader-Willi syndrome.
  • To review respiratory issues contributing to sudden death events in PWS patients.
  • To discuss therapeutic strategies for SDB and growth hormone therapy in PWS.

Main Methods:

  • Review of literature on ventilatory control, SDB, and EDS in PWS.
  • Analysis of clinical phenotypes and progression of SDB in PWS patients.
  • Discussion of treatment options including adenotonsillectomy, weight management, CPAP, and growth hormone therapy.

Main Results:

  • PWS patients present with significant ventilatory control impairments and SDB, evolving from central sleep apnea in infants to obstructive sleep apnea (OSA) in older children.
  • Behavioral issues and EDS are common, complicating OSA management with CPAP, even post-adenotonsillectomy.
  • Respiratory compromise in PWS can increase the risk of sudden death.

Conclusions:

  • Sleep disordered breathing is a critical and evolving issue in Prader-Willi syndrome, necessitating comprehensive management.
  • Therapeutic interventions such as adenotonsillectomy, weight loss, CPAP, and potentially growth hormone therapy are crucial for improving respiratory and overall health outcomes.
  • Addressing SDB and related complications is vital for mitigating risks and improving quality of life in individuals with PWS.

Keywords:
Prader-Willi syndromeadenotonsillectomybariatric surgerygrowth hormonehypocretinnon-invasive ventilationobesityobstructive sleep apneasleep disordersventilatory control

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