Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.
Methods: Combined CE/CD interviews were conducted with children with ACH (8–17 years old) and parents of children with ACH. Participants were interviewed via an online conferencing system that allowed the interviewer to share their screen with the respondent. Data from CE were used to map important concepts to PROs (QoLISSY, PedsQl, Pain-NRS) and the clinician-administered WeeFIM. Data from mapping and CD were used to confirm the measures were content valid, clear and relevant. The study was reviewed and approved by an IRB.
Results: Eight children (50% female; 13±2 years) and 18 parents (89% female; 42±6 years; 92% Caucasian; 72% educated to college degree level) were interviewed. Pain was the most common symptom for both children/parents (88%/83%), followed by feeling hot/sweaty (88%/78%). Children/parents reported difficulties with concentrating and remembering (50%/50%), sleep apnea (13%/50%), speech issues (63%/50%), ear infections (50%/78%), and balance problems (75%/56%). The most common impacts were difficulty reaching objects (88%/78%), toileting (25%/63%) and bathing (38%/56%). Mapping, based on concepts elicited during the interview including specific quotes, responses to questions from the QoLISSY, PedsQl, Pain-NRS and WeeFIM, confirmed that these measures cover the most important concepts. WeeFIM contains important concepts not contained in the 3 PROs such as difficulty bathing, dressing and toileting. All participants said that PedsQL and QoLISSY were easy to complete, and ≥90% said items were relevant. Although the PedsQL was considered by 67% of respondents to be easier to understand, 61% said the content of the QoLISSY was more relevant. Most participants (79%) recommended inclusion of both measures. Pain-NRS was considered clear (88%), relevant (88%) and easy to complete (81%).
Conclusions: This comprehensive assessment provides important information on ACH-related medical challenges and impacts from the perspective of the child and the parent. Results suggest the PedsQl, QoLISSY and Pain-NRS, in conjunction with the clinician-administered WeeFIM, map well to important concepts identified during interviews, and all measures were clear, relevant and content-valid to children with ACH and parents of children with ACH.
15 Sep 2022 - 17 Sep 2022