Quality of life in Barth syndrome
Authors: Brittany Hornby, PT, DPT, Alexander Kim, MD, Ryan Manuel, BS, Mohammad Almuqbil, MD, Hilary Vernon, MD, PhD
Introduction: Barth syndrome (BTHS) is a rare, X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population. This study investigated the impact of BTHS on HRQoL and select physiogical measures in affected boys and men.
Methods: The authors had the opportunity to assess HRQoL in patients with BTHS through multiple avenues including an interdisciplinary clinic that provides routine clinical care as well as during baseline assessment to consider participation in a clinical drug trial. In this study, we characterize HRQoL in boys and men with BTHS through cross-sectional analysis of a variety of outcome measures including the Pediatric Quality of Life Inventory (PedsQLTM) version 4.0 Generic Core Scales, PedsQLTM Multidimensional Fatigue Scale, BarTH Syndrome Symptom Assessment, the PROMIS™ Fatigue Short Form, the EuroQol Group EQ-5D™, the Patient Global Impression of Symptoms (PGIS), and the Caregiver Global Impression of Symptoms (CaGIS). For a specific subset of participants, physiological data were available in addition to HRQoL data.
Results: For the PedsQLTM questionnaires, 18 unique child and parent reports were analyzed for children ages 5-18 and 9 unique parent reports were analyzed for children ages 2-4. For the other HRQoL outcome measures and physiologic measurements, the data from 12 subjects (age range 12-35 years) was analyzed. Based on parent and child reports, HRQoL is significantly impaired in boys and men with BTHS, especially in school functioning and physical functioning. Parent and child reports of more severe fatigue are significantly correlated with more impaired HRQoL. When exploring the potential relationship between physiology and HRQoL, the CaGIS as a whole for pediatric subjects and individual questionnaire items from the PGIS and CaGIS for pediatric subjects assessing tiredness, muscle weakness, and muscle pain showed the strongest correlations.
Conclusion: This study provides a unique characterization of the HRQoL in boys and men with BTHS using a variety of outcome measures and highlights the negative impact of fatigue and muscle weakness on HRQoL in BTHS.