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  • Title: Sleep disordered breathing in patients with Prader willi syndrome: Impact of underlying genetic mechanism.
    Author: Ozsezen B, Emiralioglu N, Özön A, Akın O, Tural DA, Sunman B, Hejiyeva A, Hızal M, Alikasifoğlu A, Şimşek Kiper PÖ, Boduroglu K, Utine GE, Yalcin E, Dogru D, Kiper N, Ozcelik U.
    Journal: Respir Med; 2021 Oct; 187():106567. PubMed ID: 34411906.
    Abstract:
    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.
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