Prader-Willi Syndrome (PWS) is a complex genetic disorder manifesting physical, mental and behavioural changes. It has an estimated prevalence of one out of every 15,000 live births[1]. Hormonal disturbances secondary to an underdeveloped malfunctioning hypothalamus may cause disturbances in satiety control, growth hormone (GH) deficiency, incomplete puberty, musculoskeletal abnormality and autonomic dysregulation[2]. Due to ongoing changes in the PBS[3] criteria for adult patients with PWS to access subsidised GH, we started performing GST in patients with PWS in 2023.
At the Royal Prince Alfred Hospital, GST has been routinely provided for adults since 2017. As patients with PWS can have complex behavioural issues, specific pre-admission preparation and explicitly specified procedures have to be implemented for the GST. The preparation entails a comprehensive list of instructions to establish familiarity with the clinic and the staff members, promoting compliance to the procedure and to provide comfort. Upon arrival, standard measurements such as height and weight are taken to determine the appropriate glucagon dose. For the duration of the test, the patient lays in bed with one 20g cannula which is utilised for blood collection at specified time points. BGL levels are also checked, monitored and recorded in conjunction with the symptoms such as behaviour changes exhibited to ensure safety. Our experience revealed that performing GST on patients with PWS needs constant supervision such as maintaining a patent cannula and providing constant reassurance and distractions to complete the test. We found that dimming lights, visual & sound entertainment as well as removing all food items in the testing areas are effective diversions.
Our experience demonstrates that with the right approach, GST can be safely and effectively performed in patients with PWS. It requires careful planning, coordination, and engaging the patients in a welcoming and supervised environment.