Hypercapnic arousal responses in Prader-Willi syndrome.
OBJECTIVE
Prader-Willi syndrome (PWS) is characterized by a number of abnormalities of hypothalamic function, such as hyperphagia, short stature, temperature instability, hypogonadotropic hypogonadism, and neurosecretory growth hormone deficiency. Patients with PWS are reported to have sleep-disordered breathing and have blunted hypercapnic ventilatory responses secondary to abnormal peripheral chemoreceptor function. Thus, we hypothesized that hypercapnic arousal responses would be abnormal in PWS.


METHODS
Hypercapnic arousal responses were tested in ten nonobese children and adults with PWS, aged 17.7 +/- 2.5 (SEM) years, 70% female, and nine control subjects, aged 14.2 +/- 2.6 years, 67% female. Hypercapnic challenges were performed during stage 3/4 non-rapid eye movement sleep.


RESULTS
The PWS subjects had a significantly higher arousal threshold to hypercapnia compared with the controls (53 +/- 1.0 vs 46 +/- 1.7 mm Hg; p < 0.01). The PWS subjects had significantly higher baseline end-tidal CO2 levels (42 +/- 0.8 vs 38 +/- 1.1 mm Hg; p < 0.01) and more central apneas greater than 15 s/h of sleep (1.5 +/- 0.3 vs 0.1 +/- 0.1; p < 0.01).


CONCLUSIONS
Elevated hypercapnic arousal thresholds during sleep are found in PWS subjects; these may be a manifestation of abnormal peripheral chemoreceptor function and may further contribute to sleep-disordered breathing in PWS patients.
D000293:Adolescent; D001143:Arousal / Q000502:physiology; D002245:Carbon Dioxide / Q000502:physiology; D005260:Female; D006801:Humans; D006935:Hypercapnia / Q000503:physiopathology*; D008297:Male; D017286:Polysomnography; D011218:Prader-Willi Syndrome / Q000503:physiopathology*; D012119:Respiration / Q000502:physiology; D012890:Sleep / Q000502:physiology*
D002245:Carbon Dioxide