Measuring the Caregiver Burden in Children, Adolescents, and Young Adults With Achondroplasia: Results From a Prospective, Cross-Sectional Study

OBJECTIVES: Achondroplasia is a skeletal dysplasia that results in disproportionate short stature, it is associated with medical complications, interventions and functional consequences. Although research shows the impact of achondroplasia on patients, there is little published on the impact on caregivers. This study aimed to quantify the impact of caring for a child, adolescent or young adult with achondroplasia on caregivers’ work and financial status and health-related quality of life (HRQoL).

METHODS: This cross-sectional study recruited 53 caregivers with a mean (SD) age of 41 (8.37). An online survey captured socio-demographics, medical history, EQ-5D-5L, well-being (SF-12), work productivity (WPAI:SPH), and impacts of caregiving on the family via the PedsQL Family Impact Module (PedsQL FM).

RESULTS: 67.9% (n=36) of participants were working full-time. As a direct result of caregiving, 26.4% (n=14) reported a reduction in working hours and 35.8% (n=19) a decrease in household income. Caregivers reported a mean (SD) health state utility of 0.81 (0.15) via the ED-5D 5L UIS and mean (SD) EQ-5D Visual Analogue Scale (VAS) score of 71.30 (21.73). WPAI:SHP scores reported a mean (SD) Absenteeism and Presenteeism scores of 14.67 (22.45) and 25.11 (25.10) respectively. Mean (SD) PedsQL FM Total Score was 58.64 (21.0). Mean (SD) SF-12 Physical Component Score (PCS) and Mental Component Score (MCS) were 50.96 (6.65) and 40.92 (11.79) respectively. The highest burden was seen across outcomes in carers of children with the lowest height z-scores (< -6).

CONCLUSIONS: Participants reported reduced working hours and a drop of income as a result of caregiver responsibilities. When grouped by height z-score, caregiver burden increased as z-scores moved further away from population norms. These results describe the burden of caring for a person with achondroplasia on the caregiver’s health, wellbeing, financial and employment status and demonstrate the relationship between height z-scores and caregiver outcomes.