Quality of life in Barth syndrome.

ABSTRACT:

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 physiologic measures in affected boys and men.

Methods

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 (PedsQL^TM) Version 4.0 Generic Core Scales, PedsQL^TM Multidimensional Fatigue Scale, Barth Syndrome Symptom Assessment, the PROMIS^TM Fatigue Short Form, the EuroQol Group EQ-5D^TM, the Patie

SUBMITTER: Kim AY 

PROVIDER: S-EPMC10032447 | biostudies-literature | 2022 Jan-Dec

REPOSITORIES: biostudies-literature