TY - JOUR
T1 - Assessment of sleep and breathing in adults with Prader-Willi syndrome
T2 - a case control series
AU - Yee, Brendon J.
AU - Buchanan, Peter R.
AU - Mahadev, Sri
AU - Banerjee, Dev
AU - Liu, Peter Y.
AU - Phillips, Craig
AU - Loughnan, Georgina
AU - Steinbeck, Kate
AU - Grunstein, Ronald R.
PY - 2007/12/15
Y1 - 2007/12/15
N2 - Objectives: Prader-Willi syndrome (PWS) is a genetic disorder (linked to chromosome 15q11-13) characterized by hypotonia and developmental delay, hyperphagia and obesity, hypersomnia and abnormal sleep, and behavioral problems. Such patients may also be at increased risk of obstructive sleep apnea (OSA), although whether this risk is explained by known risk factors has not previously been directly tested. Our aim was to compare sleep and breathing in an older group of patients with Prader-Willi syndrome with a control group - matched on the basis of age, sex, and body mass index (BMI) - in order to determine which specific features are not explained by these known confounders. Methods: Consecutive patients with PWS attending the PWS clinic at Royal Prince Alfred Hospital Sydney, Australia, were recruited. Age-, sex-, and BMI-matched controls were selected from the Sleep Investigation Unit at Royal Prince Alfred Hospital, and polysomnography-derived sleep and other parameters were compared across the groups. Results: Nineteen subjects with PWS (14 males) were included in the study. Eighteen (95 %) had a total respiratory disturbance index (TRDI) of greater than 5 events per hour, with 4 (21%) having severe obstructive sleep apnea (TRDI ≥ 30 events/hour) and 9 (47%) having evidence of obesity hypoventilation syndrome. Patients with PWS, as compared with the control group, had evidence of more nocturnal hypoxemia, with lower oxyhemoglobin saturations and percentages of sleep time at less than 80% oxyhemoglobin saturation (all p values < 0.05). There were no significant differences in sleep architecture; however, there was a reduction in rapid eye movement latency seen in the PWS group (p < 0.05). Serum leptin was higher than the reference range in the PWS group but was not measured in the control group. Conclusion: Patients with PWS drawn from an adult and adolescent PWS clinic have a high rate of sleep-disordered breathing. There is evidence that patients with PWS may have more nocturnal hypoventilation than a well-matched control group. These data suggest that the chromosome region 15q11-13 may be involved in some aspects of the regulation of breathing, although whether putative molecular mechanisms act directly or indirectly will require further investigation.
AB - Objectives: Prader-Willi syndrome (PWS) is a genetic disorder (linked to chromosome 15q11-13) characterized by hypotonia and developmental delay, hyperphagia and obesity, hypersomnia and abnormal sleep, and behavioral problems. Such patients may also be at increased risk of obstructive sleep apnea (OSA), although whether this risk is explained by known risk factors has not previously been directly tested. Our aim was to compare sleep and breathing in an older group of patients with Prader-Willi syndrome with a control group - matched on the basis of age, sex, and body mass index (BMI) - in order to determine which specific features are not explained by these known confounders. Methods: Consecutive patients with PWS attending the PWS clinic at Royal Prince Alfred Hospital Sydney, Australia, were recruited. Age-, sex-, and BMI-matched controls were selected from the Sleep Investigation Unit at Royal Prince Alfred Hospital, and polysomnography-derived sleep and other parameters were compared across the groups. Results: Nineteen subjects with PWS (14 males) were included in the study. Eighteen (95 %) had a total respiratory disturbance index (TRDI) of greater than 5 events per hour, with 4 (21%) having severe obstructive sleep apnea (TRDI ≥ 30 events/hour) and 9 (47%) having evidence of obesity hypoventilation syndrome. Patients with PWS, as compared with the control group, had evidence of more nocturnal hypoxemia, with lower oxyhemoglobin saturations and percentages of sleep time at less than 80% oxyhemoglobin saturation (all p values < 0.05). There were no significant differences in sleep architecture; however, there was a reduction in rapid eye movement latency seen in the PWS group (p < 0.05). Serum leptin was higher than the reference range in the PWS group but was not measured in the control group. Conclusion: Patients with PWS drawn from an adult and adolescent PWS clinic have a high rate of sleep-disordered breathing. There is evidence that patients with PWS may have more nocturnal hypoventilation than a well-matched control group. These data suggest that the chromosome region 15q11-13 may be involved in some aspects of the regulation of breathing, although whether putative molecular mechanisms act directly or indirectly will require further investigation.
KW - Leptin
KW - Nocturnal hypoxemia
KW - Obesity hypoventilation syndrome
KW - Obstructive sleeps apnea
KW - Prader-Willi syndrome
UR - http://www.scopus.com/inward/record.url?scp=38849146552&partnerID=8YFLogxK
U2 - 10.5664/jcsm.27028
DO - 10.5664/jcsm.27028
M3 - Article
C2 - 18198805
AN - SCOPUS:38849146552
SN - 1550-9389
VL - 3
SP - 713
EP - 718
JO - Journal of Clinical Sleep Medicine
JF - Journal of Clinical Sleep Medicine
IS - 7
ER -