ESPE Abstracts (2019) 92 P1-235

Development of a Measure for the Impacts of Achondroplasia on Children's Daily Functioning and Well-Being

Kathryn M. Pfeiffer1, Meryl Brod1, Dorthe Viuff2, Sho Ota2, Jill Gianettoni2, Jonathan Leff2


1The Brod Group, Mill Valley, USA. 2Ascendis Pharma, Palo Alto, USA


Background: Research on the impacts of achondroplasia on children's functioning and well-being is limited. The purpose of the study was to investigate the impacts of achondroplasia on children's daily lives to support the development of an impact measure of achondroplasia on children's functioning and well-being.

Methods: Individual telephone interviews and one parent focus group were conducted in the United States (US) and Spain with parents of children with achondroplasia aged 2 to <12 years using a semi-structured interview guide. Interview and focus group transcripts were analyzed using an adapted grounded theory approach to identify important concepts and themes and to inform the development of a validation-ready impact measure.

Results: Thirty-six parents (n=31 mothers; n=5 fathers) of children aged 2 to <12 years with achondroplasia participated in interviews or the focus group (Spain, n=11; US, n=25), including seven parents with achondroplasia. Analyses identified daily functioning, emotional well-being, social well-being, and participation in school as important impact domain. The most frequently reported impacts on children's daily functioning included difficulty reaching objects or high places (89%, n=32), toileting (67%, n=24), bathing/washing or grooming (58%, n=21), running (56%, n=20), walking (50%, n=18), being physically active (47%, n=17), and dressing/undressing (47%, n=17). For the emotional well-being domain, the most frequent impacts were feeling different (53%, n=19), feeling frustrated (47%, n=17), feeling sad (39%, n=14), feeling embarrassed/self-conscious (33%, n=12), and feeling angry/mad (33%, n=12). In the social well-being domain, the most frequent impacts included difficulty participating in sports or physical play (86%, n=31), being treated as younger than age (83%, n=30), negative attention in public (e.g., staring/pointing; 64%, n=23), experience of teasing/bullying (64%, n=23), participation in social activities (64%, n=23), keeping up with other children their age (58%, n=21), and being stigmatized (56%, n=20). Among school-aged children (aged 5 to <12 years; n=25), key impacts on school participation included missed time/days at school (76%, n=19), limited/modified participation in physical education class (68%, n=17), and issues participating in class/school work (40%, n=10).

Conclusion: The study provides evidence to support the content validity for an impact measure of achondroplasia on children's daily functioning and emotional and social well-being. Understanding and assessing the impacts of achondroplasia on children's general functioning and well-being, which may be improved with treatment, is critical in the clinical management of achondroplasia as new treatments are being developed.

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