TY - JOUR
T1 - Sleep disordered breathing in patients with Prader willi syndrome
T2 - Impact of underlying genetic mechanism
AU - Ozsezen, Beste
AU - Emiralioglu, Nagehan
AU - Özön, Alev
AU - Akın, Onur
AU - Tural, Dilber Ademhan
AU - Sunman, Birce
AU - Hejiyeva, Aysel
AU - Hızal, Mina
AU - Alikasifoğlu, Ayfer
AU - Şimşek Kiper, Pelin Özlem
AU - Boduroglu, Koray
AU - Utine, Gülen Eda
AU - Yalcin, Ebru
AU - Dogru, Deniz
AU - Kiper, Nural
AU - Ozcelik, Ugur
N1 - Publisher Copyright:
© 2021
PY - 2021/10
Y1 - 2021/10
N2 - Introduction: Sleep-disordered breathing (SDB) is common in children with PWS. In the current study, we aimed to evaluate the severity of SDB in patients with PWS using polysomnography (PSG), and assess the effect of the underlying genetic mechanism on PSG parameters. Methods: Children with PWS, referred to our sleep laboratory between March 2016 and January 2020 were enrolled. PSG parameters, demographic data, body mass index (BMI), and symptoms related to SDB were recorded. The effect of non-invasive ventilation strategies and the outcome of therapy on PSG parameters were evaluated. Results: In our study, 64.5% of the patients had severe sleep apnea syndrome (total apnea hypopnea index (AHI) ≥10 events/hour). 22.6% had significantly high (>5 events/hour) central sleep apnea. Patients with a deletion had significantly lower initial and mean SaO2, longer sleep time SaO2 under 90%, oxygen desaturation % and total AHI when compared to those with uniparental disomy. PSG parameters were similar between patients who did or didn't receive growth hormone treatment. Conclusion: The majority of the PWS patients had severe sleep apnea syndrome characterized mainly by hypopneas which were accompanied by central apneas. There was a more severe impact on oxygen parameters and total AHI in patients with deletions.
AB - Introduction: Sleep-disordered breathing (SDB) is common in children with PWS. In the current study, we aimed to evaluate the severity of SDB in patients with PWS using polysomnography (PSG), and assess the effect of the underlying genetic mechanism on PSG parameters. Methods: Children with PWS, referred to our sleep laboratory between March 2016 and January 2020 were enrolled. PSG parameters, demographic data, body mass index (BMI), and symptoms related to SDB were recorded. The effect of non-invasive ventilation strategies and the outcome of therapy on PSG parameters were evaluated. Results: In our study, 64.5% of the patients had severe sleep apnea syndrome (total apnea hypopnea index (AHI) ≥10 events/hour). 22.6% had significantly high (>5 events/hour) central sleep apnea. Patients with a deletion had significantly lower initial and mean SaO2, longer sleep time SaO2 under 90%, oxygen desaturation % and total AHI when compared to those with uniparental disomy. PSG parameters were similar between patients who did or didn't receive growth hormone treatment. Conclusion: The majority of the PWS patients had severe sleep apnea syndrome characterized mainly by hypopneas which were accompanied by central apneas. There was a more severe impact on oxygen parameters and total AHI in patients with deletions.
KW - Apnea-hypopnea index
KW - Central sleep apnea
KW - Growth hormone
KW - Prader willi syndrome
KW - Sleep disordered breathing
UR - https://www.scopus.com/pages/publications/85112539670
U2 - 10.1016/j.rmed.2021.106567
DO - 10.1016/j.rmed.2021.106567
M3 - Article
C2 - 34411906
AN - SCOPUS:85112539670
SN - 0954-6111
VL - 187
JO - Respiratory Medicine
JF - Respiratory Medicine
M1 - 106567
ER -