The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and Germany

Abstract Limited research has investigated the challenges faced by families caring for children with neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Face-to-face, mixed-method, in-depth surveys were conducted with 19 families (23 children) in the UK (n=9) and Germany (n=10) to assess the impact of caring for children with CLN2 disease, using national wellbeing and quality of life (QoL) measures. Primary (n=19) and secondary (n=10) caregivers, adult siblings (n=2), and child siblings (n=2) were included. Caregivers reported reduced health-related QoL compared with age and gender-matched controls (mean utility scores 0.08 and 0.11 lower in Germany and the UK, respectively). Hours of caregiving were significantly higher relative to that provided to a child of normal health, with stress, back pain, and reductions in sleep being recorded. Lower life satisfaction and happiness with partners were also reported, along with significant financial burden. Those caring for children in the late stage of disease were more greatly impacted than those with children in the rapidly progressive stage, or who were bereaved. The results of this study make clear the importance of emotional and practical support for caregivers and siblings coping with CLN2 disease.

Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

Abstract This cross-sectional analysis assessed the correlation between patient-reported outcomes (PROs) and clinical outcomes in 24 German patients with Morquio A. Clinical outcomes included 6-minute walk test (6MWT), 3-minute stair climb (3MSC) test, and joint range of motion as measures for endurance/mobility, forced vital capacity (FVC) and maximum voluntary ventilation (MVV) as measures for respiratory function, and height as an important manifestation. The PROs included the EuroQoL (EQ) 5D-5L (EQ5D-5L), to measure health-related QoL (HRQoL), and patients' rating of their ability to walk, climb, or breathe. In adults, endurance and pulmonary function measures and height showed strong and statistically significant correlation with the patients' EQ5D-5L (6MWT: R = .884, 3MSC test: R = .852, FVC: R = .815, MVV: R = .825, height: R = .842). The adult patients' rating of their ability to walk and climb also correlated strongly with 6MWT (R = .839) and 3MSC test (R = .700) results. Improvements in these clinical outcomes may be robust surrogate parameters of a better EQ5D-5L/HRQoL in patients with Morquio A.