Context: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder. Individuals with PWS are at risk to develop sleep-disordered breathing, including obstructive and central sleep apnea syndromes. PWS patients commonly receive Growth hormone (GH) treatment. Concerns have been raised following reports of sudden death shortly after GH initiation. During recent years GH treatment was increasingly initiated earlier commencing treatment already during the first year of life. To date, no data are available on whether age at treatment initiation is associated with sleep apnea development.
Objective: We investigated occurrence and severity of sleep apnea in PWS children after treatment initiation and sought for differences between patients treated within or after their first year of life.
Design and Setting: This was a retrospective and longitudinal study with data obtained from 2007 to 2017.
Patients and Methods: We analyzed polygraphic registrations (PGs) of 62 children (aged 0-2.5 years at baseline), diagnosed with PWS. 21 children (group A) started GH therapy within and 41 children (group B) after their first year of life. Polygraphic and auxological data was acquired before treatment (t0), at 3 months (t1), 6 months (t2), 10 months (t3), 1.2 years (t4), 2.2 years (t5) and 3.2 years (t6) after GH onset. To test any differences in prevalence and incidence, main outcome measures included obstructive apnea hypopnea index (OAHI), severity of obstructive sleep apnea (OSA), central apnea index (CAI), oxygen desaturation index (ODI), mean and minimal peripheral blood oxygen saturation.
Results: We observed no significant differences in OAHI, CAI, ODI and peripheral oxygen saturation in relation with treatment onset. Prevalence of pathological OSA (≥1.5) increased significantly from 25.0% to 33.3% at t1 in group A (P<0.05). However, prevalence did not differ between groups at any time point. The percentage of patients with severe OSA rose from 2.5 (t0) to 4.9 (t1) only in group B (P<0.05). We found a decrease in the ODI from 4.0 to 3.1, 2.7, 2.9 at t1, t2 and t4 in group A, respectively (P<0.05). Group B showed a decrease in the ODI from 3.6 at baseline to 1.6 at t8 (P<0.05).
Conclusions: Development of OSA in PWS children appears to be independent of GH treatment onset. Thus, GH treatment may be initiated early in life. However polygraphic screening should be sustained regularly, especially within the first year after treatment initiation.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology