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.