PSAT103 Qualitative Research in Children with Achondroplasia and Parents of Children with Achondroplasia: Medical Challenges and Impacts
Authors: Muslimova Elena , Hoover-Fong Julie , Mathias Susan D , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Iruretagoyena Susana , Haider Amer , Cho Terry , Lee Anne , Colwell Hilary H 
Published: November 2022

Background

Achondroplasia (ACH) is the most common form of non-lethal skeletal dysplasia affecting 1 in 25,000 live births. Individuals with ACH experience various medical symptoms/complications and impacts during their lifetime. Qualitative research was conducted to better understand ACH related symptoms/complications and their impacts to health-related quality of life (HRQoL) in this population.

Methods

Combined concept elicitation (CE) and cognitive debriefing (CD) interviews were conducted in the US with children with ACH (8–17 years of age) and parents of children with ACH. Study materials were developed with input from patient advocacy groups and key opinion leaders. A central Institutional Review Board reviewed and approved the study; all participants provided written informed consent. The CE portion of the interview sought to understand the important concepts for individuals with ACH. Results of the CD portion of the interview are presented elsewhere. The percentages of medical challenges (ACH-related symptoms/complications) and impacts of these challenges to HRQoL were calculated separately for children and parents. Saturation, the point at which no new concepts were mentioned, was also evaluated. All interviews were conducted via online video calls and were recorded and transcribed. Transcripts were analyzed using qualitative software.

Results

26 participants (n=8 children and n=18 parents) were interviewed. Half of the children with ACH were female (50%); mean age 13±2 years. All children (100%) attended school (88% attended public school). Parents were predominantly female (89%), Caucasian (92%), had a college degree or higher (72%), were married (83%), and had a mean age of 42±6 years. Similar medical challenges were reported by both children and parents, although the frequency differed. Pain was the most common symptom reported by both children and parents (88% and 83%, respectively), followed by feeling hot or sweaty (88% and 78%). Difficulties with concentrating or remembering (50% for both), sleep apnea (13% and 50%), speech issues (63% and 50%), ear infections (50% and 78%), and balance problems (75% and 56%) were reported by children and parents, respectively. Fatigue and muscle fatigue/loose joints was reported by 63% of children, but only 33% of parents. The most common impacts reported by children and parents were difficulty reaching objects (88% and 78%), toileting (25% and 63%), bathing (38% and 56%), walking (75% and 56%), running (88% and 56%), and dressing (25% and 50%). In general, saturation was achieved for most challenges and impacts.

Conclusions

This research provides detailed information on the medical challenges and impacts children with ACH face in everyday life. The concepts identified with high frequency will be mapped to patient-reported outcome (PRO) and functional measures to identify the most appropriate and relevant measures to include in studies of ACH.

Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.