Personalized endpoints in Prader-Willi syndrome: a case study with goal attainment scaling.

Abstract

This case report examines the implementation of Goal Attainment Scaling (GAS) for a 9-year-old girl with Prader-Willi Syndrome (PWS) and narcolepsy-like features who began treatment with Pitolisant, a medication designed to alleviate excessive daytime sleepiness. The individualized GAS framework enabled the patient and her caregivers to establish specific treatment goals across cognitive, motor, and physiological domains. Although validated outcome measures for this population are limited, GAS effectively captured crucial aspects of the patient's experience, revealing overall improvements in most symptoms during a six-month follow-up. This method provided an unbiased assessment of treatment effectiveness, underscoring the importance of integrating patient-centered measures in the management of rare diseases like PWS. The findings suggest that GAS can yield valuable insights into patient priorities and treatment outcomes, highlighting the need for further research into its application in clinical settings for PWS and similar conditions.