International Survey of Growth Hormone and Sleep Evaluation Practices in Infants With Prader‐Willi Syndrome

OBJECTIVE: Guidelines encourage polysomnogram (PSG) prior to starting growth hormone (GH) in individuals with Prader-Willi Syndrome (PWS) to avoid adverse effects; however, this presents a challenge in infancy due to barriers regarding access and lack of normative data to guide recommendations. This international survey study assessed clinician practices regarding GH initiation and sleep evaluation in infants with PWS. The primary objective was to determine the prevalence of clinicians reporting they do not always perform a baseline PSG prior to GH Initiation and whether responses were associated with volume of PWS patients seen annually. DESIGN: A survey was distributed through 10 medical societies involved in PWS care. Respondents were grouped by volume of patients with PWS seen annually (<5 (low volume, LV), 5-20 (medium volume, MV), and >/= 21 (high volume, HV) and practice region (United States (US) vs. outside of the US). The primary outcome was evaluated using bivariate analysis, a test for trend, and multivariable logistic regression. All other outcome analyses were considered exploratory. RESULTS: We analysed 141 surveys from 18 countries (primarily US respondents; 79%). There were 58 (41%) LV, 42 (30%) MV, and 41 (29%) HV respondents. With respect to our primary outcome, HV respondents were more likely to answer "not always" when asked whether they perform baseline PSG prior to GH initiation with a decreasing trend to the LV group (HV: 56%, MV: 31%, LV: 26%, p = 0.003). Concurrently, the most common reason to forgo the baseline PSG in the US is to avoid delaying GH start (56%) and less concerns about side effects (apnea, sudden death) in this age group (54%). Outside of the US, the top reason was lack of availability of sleep lab (78%). In multivariable logistic regression, the odds of "not always" obtaining a baseline PSG prior to starting GH in infants was 3.66 times (95% CI: 1.48, 9.04) higher in individuals seeing more than 21 PWS patients (HV) compared to less than 5 (LV) when controlling for respondent's geographic location and years treating patients with PWS (p = 0.004). CONCLUSION: High volume PWS clinicians were more likely to report not always obtaining baseline PSG prior to starting GH in infants, primarily to prevent delayed therapy. These findings highlight a gap between guidelines and practice and support the need for prospective outcome data.