Martino Pavone1, Valeria Caldarelli1,2, Sonia Khirani3,4, Marina Colella5, Adriana Ramirez3,6, Guillaume Aubertin7, Antonino Crinò8, Frédéric Brioude9, Frédérique Gastaud10, Nicole Beydon11, Michèle Boulé11,12, Lisa Giovannini-Chami13,14, Renato Cutrera1, Brigitte Fauroux3,15,16. 1. Respiratory Unit, Bambino Ges, ù, Children's Hospital, Rome, Italy. 2. Pediatric Unit, IRCCS-Arcispedale Santa Maria Nuova, Reggio Emilia, Italy. 3. Pediatric Noninvasive Ventilation and Sleep Unit, AP-HP, H, ô, pital Necker, Paris, France. 4. ASV Santé, Gennevilliers, France. 5. Clinica Pediatrica, Istituto G. Gaslini, Genoa, Italy. 6. ADEP Assistance, Suresnes, France. 7. Pediatric Pulmonary Department, AP-HP, Hôpital Armand Trousseau, Paris, France. 8. Endocrinology Unit, Bambino Gesù Children's Hospital, Rome, Italy. 9. Endocrinology Unit, AP-HP, Hôpital Armand Trousseau, Paris, France. 10. Endocrinology Unit, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France. 11. Lung Function and Sleep Unit, Physiology Department, AP-HP, Hôpital Armand Trousseau, Paris, France. 12. Pierre et Marie Curie University - Paris 6, Paris, France. 13. Pediatric Pulmonary-Allergy Department, Hôpitaux pédiatriques de Nice CHU-Lenval, Nice, France. 14. Université de Nice Sophia Antipolis, Nice, France. 15. Paris Descartes University, Paris, France. 16. INSERM U 955, Equipe 13, Créteil, France.
Abstract
OBJECTIVES: Sleep disordered breathing (SDB) is common in patients with Prader-Willi syndrome (PWS) and systematic screening is recommended, especially before growth hormone treatment. The aim of the study was to describe the baseline SDB and therapeutic interventions in a large cohort of patients. STUDY DESIGN: Retrospective study. SUBJECT SELECTION: Eighty-eight patients with PWS, median [interquartile range] age of 5.1 [1.0-14.5] years old (range 0.3-44.3), who were followed in three centers (France, Italy). METHODOLOGY: Anthropometrics, polygraphy (PG), and gas exchange data were analyzed. RESULTS: Median body mass index (BMI) was 20 [16-34] kg/m(2), BMI z-score for patients aged 2-20 years old was 2.1 [1.2-2.8] SD, mixed-obstructive apnea-hypopnea index (MOAHI) 1.8 [0.6-5.0] events/hr, and central apnea index (CAI) 0.1 [0.0-0.6] events/hr. Minimum pulse oximetry (SpO2) was 88 [84-91]%, percentage of time with SpO2 <90% 0.1 [0.0-1.0]%, and oxygen desaturation index 2 [1-4]/hr. An apnea-hypopnea index (AHI) ≥ 1.5 and ≥ 5 events/hr was observed in 53% of children and 41% of adults, respectively. No correlations were observed between MOAHI and anthropometrics data (age, BMI, BMI z-score), while MOAHI significantly correlated with SpO2 indexes. Age and BMI only weakly correlated with SpO2 indexes. Growth hormone could be initiated in 48 patients. Regarding post-PG therapy, 9 patients had upper airway surgery, and noninvasive CPAP/bilevel ventilation was started in 16 patients. CONCLUSIONS: Patients with PWS exhibit a high prevalence of SDB. The lack of association between obesity and SDB leads to hypothesize that hypotonia and/or facial dysmorphic features may play a major role in the occurrence of SDB.
OBJECTIVES: Sleep disordered breathing (SDB) is common in patients with Prader-Willi syndrome (PWS) and systematic screening is recommended, especially before growth hormone treatment. The aim of the study was to describe the baseline SDB and therapeutic interventions in a large cohort of patients. STUDY DESIGN: Retrospective study. SUBJECT SELECTION: Eighty-eight patients with PWS, median [interquartile range] age of 5.1 [1.0-14.5] years old (range 0.3-44.3), who were followed in three centers (France, Italy). METHODOLOGY: Anthropometrics, polygraphy (PG), and gas exchange data were analyzed. RESULTS: Median body mass index (BMI) was 20 [16-34] kg/m(2), BMI z-score for patients aged 2-20 years old was 2.1 [1.2-2.8] SD, mixed-obstructive apnea-hypopnea index (MOAHI) 1.8 [0.6-5.0] events/hr, and central apnea index (CAI) 0.1 [0.0-0.6] events/hr. Minimum pulse oximetry (SpO2) was 88 [84-91]%, percentage of time with SpO2 <90% 0.1 [0.0-1.0]%, and oxygen desaturation index 2 [1-4]/hr. An apnea-hypopnea index (AHI) ≥ 1.5 and ≥ 5 events/hr was observed in 53% of children and 41% of adults, respectively. No correlations were observed between MOAHI and anthropometrics data (age, BMI, BMI z-score), while MOAHI significantly correlated with SpO2 indexes. Age and BMI only weakly correlated with SpO2 indexes. Growth hormone could be initiated in 48 patients. Regarding post-PG therapy, 9 patients had upper airway surgery, and noninvasive CPAP/bilevel ventilation was started in 16 patients. CONCLUSIONS: Patients with PWS exhibit a high prevalence of SDB. The lack of association between obesity and SDB leads to hypothesize that hypotonia and/or facial dysmorphic features may play a major role in the occurrence of SDB.
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