Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults
Abstract Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate tr...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2021-06-01
|
Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-021-01897-z |