Prader-Willi Syndrome (PWS) is a rare, genetic, multi-symptom, neurodevelopmental disease, due to lack of the expression of the paternal genes in the q11-q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. GH treatment might theoretically have a negative impact on respiration. Here we present the effect of GH treatment on polysomnographic measurements.Thirty-seven adults, 15 men and 22 women, with confirmed PWS were randomized to one year of GH treatment (n= 19) or placebo (n=18) followed by two years of GH treatment to all. Polysomnographic measurements were performed every 6 months. A mixed-effect regression model was used for comparison over time in the subgroup who received GH for three years.At baseline median age was 29.5 years, BMI 27.1 kg/m 2, IGF-I 115 µg/L, apnea-hypopnea index (AHI) 1.4 (0.0-13.9) and sleep efficiency (SE) 89.0 % (41.0 - 99.0). No differences in sleep or respiratory parameters were seen between GH and placebo treated patients. SE continuously improved throughout the study, also after adjustment for BMI, and the length of the longest apnea increased. AHI inconsistently increased within normal range.SE improved during GH treatment and no clinical, significantly negative, impact on respiration was seen. The etiology of breathing disorders is multifactorial and awareness of them should always be present in adults with PWS with or without GH treatment.
Hasanain Hamid Shukur, Laith Hussain-Alkhateeb, Stense Farholt, Ole Nørregaard, Anders Palmstrøm Jørgensen, Charlotte Hoybye