Quality of Life Impact of Caregiving for Patients With MCT8 Deficiency: Results From a Cross-Sectional Survey

OBJECTIVES: To quantify the health-related quality of life (HRQoL) impact of caring for someone with MCT8 deficiency.

METHODS: Informal caregivers of people with MCT8 deficiency completed a cross-sectional online survey. This included the PedsQL Family Impact Module instrument, which measures the impact of pediatric chronic health conditions on parents with the following domains: functioning (social, physical, cognitive, emotional), communication, worry, daily activities and family relationships. Each domain includes questions that are answered on a 5-point Likert scale (‘never’ to ‘almost always’). Scores range from 0 to 100; higher scores indicate better functioning.

RESULTS: Participants’ mean age was 42.2 years (n=22); 81.8% were female and 95.5% were the parent of the person with MCT8 deficiency. The mean age of the person with MCT8 deficiency was 8.8 years, ranging from 0.8 to 30.4 years.

The mean total PedsQL score was 41.1. Caregivers reported the lowest mean scores for daily activities (27.9), social functioning (31.8) and physical functioning (37.5). This is due to the higher proportion of caregivers reporting ‘often’ and ‘almost always’ for each item. Within each domain, most participants reported 'often' feeling too tired to do the things they like to do (66.7%), not having enough energy for social activities (57.1%) and family activities taking more time and effort (47.6%).

The highest scores were reported for family relationships (51.2), emotional functioning (47.1) and cognitive functioning (43.3). Here, fewer participants reported ‘often’ and ‘almost always’ for each item. Most participants reported 'sometimes' having family conflict and difficulty making decisions as a family (57.1%), finding it hard to think quickly (57.1%), and feeling angry and frustrated (52.4%).

CONCLUSIONS: Caregivers reported a low to moderate level of functioning across domains of the PedsQL, indicating that caring for someone with MCT8 deficiency on HRQoL. Caregivers reported lowest scores for daily activities, social functioning and physical functioning.