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

This case report examines the implementation of goal attainment scaling for a 9-year-old female with Prader-Willi syndrome and narcolepsy-like features who began treatment with Pitolisant, a medication designed to alleviate excessive daytime sleepiness. The individualized goal attainment scaling 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, goal attainment scaling effectively captured crucial aspects of the patient's experience, revealing overall improvements in most symptoms during a 6-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 Prader-Willi syndrome. The findings suggest that goal attainment scaling can yield valuable insights into patient priorities and treatment outcomes, highlighting the need for further research into its application in clinical settings for Prader-Willi syndrome and similar conditions.

Revana A, Sevinc G, George M, et al. Personalized endpoints in Prader-Willi syndrome: a case study with goal attainment scaling. J Clin Sleep Med. 2025;21(7):1305-1309.