Development of the QoLISSY 0-4 questionnaire: a health-related quality of life tool for young children with short stature.

Abstract

Short stature in children aged 0-4 years presents unique physical, social, and emotional challenges that significantly impact health-related quality of life (HRQoL). The QoLISSY 0-4 questionnaire was developed as a Patient Reported Outcome measure (PROMS) to address the absence of an age-specific, condition-focused HRQoL assessment tool for this population. A mixed-method approach was employed to adapt the original QoLISSY questionnaire for children aged 5-18. Qualitative interviews were conducted with 24 parents of children diagnosed with short-stature conditions, including achondroplasia, small for gestational age, growth hormone deficiency, and Silver-Russell Syndrome. Cognitive debriefing sessions and iterative feedback guided the development of new items tailored to the needs of children aged 0-4. Pilot testing involved 20 parents, who evaluated the questionnaire's clarity, relevance, and comprehensiveness. The development process yielded an 8-domain, 55-item questionnaire addressing physical health, social interactions, emotions, coping mechanisms, medical care, future concerns, and parental impact. Cognitive debriefing results indicated high item clarity (100%), relevance (93%), and importance (94%), with parents confirming that the questionnaire effectively captured their child's HRQoL experiences. The QoLISSY 0-4 questionnaire provides a tailored, parent-reported tool for assessing HRQoL in children aged 0-4 with short stature. Its development reflects a rigorous, participant-informed process ensuring its relevance and usability. Future validation studies will explore its cross-cultural applicability and psychometric properties to establish its utility in research and clinical settings.