Publication details

Sleep apnea in Prader-Willi syndrome patients


MORÁŇ Miroslav

Year of publication 2005
Type Article in Periodical
Magazine / Source European Journal of Neurology
MU Faculty or unit

Faculty of Medicine

Field Neurology, neurosurgery, neurosciences
Keywords Sleep apnoe; Prader-Willi syndrome
Description Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, small stature, obesity, reduction of muscle mass, osteopenia, hypogonadism a hypothalamic dysfunction, cognitive dysfunction, behavior change and possible other symptoms. The patients are in higher risk of cardiovascular problems and insulin secretion. The etiology occurs from three main genetic errors: 70% of cases have a non-inherited deletion in the paternally contributed chromosome 15, 25% have maternal uniparental disomytwo maternal 15s and no paternal chromosome 15; and 25 % have an error in the "imprinting" process that renders the paternal contribution nonfunctional. The clinical exhibition starts between 6 months and 6 years. Usually growth hormone, restriction of food intake and psychofarmacs are used in therapy. There are most often symptoms of sleep apnea syndrome in the patients labouring with PWS comparing the whole population, usually mixed type, caused by combination of central dysregulation of breathing and upper airway obstruction. We examined by means of home polygraphy and subsequently complete polysomnography five patients suffering from PWS, average age 13 years (10-15 years) referring for sleep apnea. Only one of them was indicated for positive airway pressure (CPAP, BiPAP), however he did not tolerate this therapy during repeated testing. Parameters of sleep, breathing and effect of CPAP are discussed. Conclusion. We discuss the sleep and breathing problems in our PWS patients, that are not quite typical, good effect but bad compliance of BiPAP in one patient indicated to this therapy, effect of other therapy by the rest of patients.
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