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Sleep and breathing in patients with the Prader-Willi syndrome
J Kaplan1, P A Fredrickson, J W Richardson
1Sleep Disorders Center, Mayo Clinic Jacksonville, FL 32224.
Insights
Patients with Prader-Willi syndrome often have sleep issues like hypersomnolence. Despite obesity and snoring, their sleep-disordered breathing appears mild, suggesting other factors contribute to their cardiorespiratory problems.
Area of Science:
- Neurology
- Genetics
- Sleep Medicine
Background:
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Key features include hypotonia, obesity, developmental delay, and hypogonadism.
- Many PWS patients experience hypersomnolence and daytime hypoventilation, common in sleep apnea.
Purpose of the Study:
- To investigate the relationship between sleep disturbances and clinical features in Prader-Willi syndrome.
- To assess the severity of sleep-disordered breathing in PWS patients.
Main Methods:
- Retrospective review of five patients (2 adults, 1 adolescent, 2 children) with Prader-Willi syndrome.
- All patients underwent polysomnography (sleep study).
- Analysis included apnea-hypopnea index and oxyhemoglobin saturation during sleep.
Main Results:
- All five patients were obese, reported hypersomnolence, snored, and had daytime hypoxemia.
- The apnea-hypopnea index was below 10 episodes/hour in all patients, indicating mild sleep-disordered breathing.
- Nonapneic reductions in oxygen saturation occurred during REM sleep in two patients.
Conclusions:
- Patients with Prader-Willi syndrome exhibit mild sleep-disordered breathing despite morbid obesity and snoring.
- The findings suggest that factors beyond typical sleep apnea contribute to cardiorespiratory issues in PWS.
- Further research is needed to understand the specific mechanisms of sleep-related respiratory dysfunction in PWS.
Abstract:
The Prader-Willi syndrome is characterized by infantile hypotonia, early childhood obesity, mental deficiency, short stature, small hands and feet, and hypogonadism. Many patients also have hypersomnolence, experience daytime hypoventilation, and subsequently die prematurely of cardiorespiratory failure. Hypersomnolence and daytime hypoventilation are also common occurrences in the sleep apnea syndrome. For a better understanding of the relationship of sleep to the features of the Prader-Willi syndrome, we retrospectively reviewed five patients (two adults, one adolescent, and two children) with this syndrome who underwent polysomnography. All patients were obese; they had hypersomnolence and daytime hypoxemia, and they nored. In all patients, the apnea plus hypopnea index was less than 10 episodes per hour of sleep. During rapid eye movement sleep, nonapneic reductions in oxyhemoglobin saturation were detected in one adult and in one child. Despite the presence of morbid obesity and a history of snoring, patients with Prader-Willi syndrome seem to have only mild sleep-disordered breathing.