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Sleep-disordered breathing in Prader-Willi syndrome and its association with neurobehavioral abnormalities

F J O'Donoghue1, D Camfferman, J D Kennedy

  • 1Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia.

The Journal of Pediatrics
|December 17, 2005
PubMed

Insights

Obstructive sleep apnea (OSA) is common in Prader-Willi syndrome (PWS), affecting 69% of patients. OSA is linked to higher body mass, sleepiness, and behavioral issues in PWS individuals.

Area of Science:

  • Sleep Medicine
  • Genetics
  • Neurobehavioral Disorders

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder associated with various health issues.
  • Sleep-disordered breathing (SDB) is a potential complication in PWS, but its prevalence and specific types are not well-defined.
  • Understanding SDB in PWS is crucial for managing neurobehavioral abnormalities.

Purpose of the Study:

  • To investigate the prevalence and characteristics of sleep-disordered breathing (SDB) in patients with Prader-Willi syndrome (PWS).
  • To examine the relationship between SDB and neurobehavioral issues, including intellectual disability, obsessive-compulsive behavior, and conduct disorders.
  • To explore the association between SDB severity, body mass, and cognitive/behavioral outcomes.

Main Methods:

  • Polysomnography (PSG) was performed on 13 individuals with PWS (ages 1.5-28 years).
  • Behavioral and cognitive assessments included the Development Behavior Checklist (DBC), Auditory Continuous Performance Test (ACPT), and age-appropriate Wechsler Intelligence Scales.
  • PSG data were correlated with behavioral and cognitive test results.

Main Results:

  • A high prevalence of SDB was observed, with 69% of subjects exhibiting more than 10 apneas and hypopneas per hour.
  • Upper airway obstruction was the primary cause of SDB, except in one case of central hypopnea.
  • Increased body mass index correlated with more severe sleep hypoxemia and disruption. SDB severity was associated with daytime sleepiness, autistic-related behaviors, and impulsivity.

Conclusions:

  • Obstructive sleep apnea (OSA) is highly prevalent in individuals with Prader-Willi syndrome.
  • OSA in PWS is associated with increased body mass, daytime inactivity/sleepiness, and certain behavioral disturbances.
  • Further research is warranted to elucidate the complex interplay between OSA, body composition, and neurobehavioral phenotypes in PWS.
Abstract

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