Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study
Mackenzie Bourke, Xuemin Zhu, Tiffany Boughtwood, Clara Gaff, Amy Hunter, Brendan Mulhern, Tessa Peasgood, Clare Stuart, James Buchanan, Ilias Goranitis · 2026
Read Content validity, face validity and comprehensiveness of generic quality-of-life measures in adults and children with rare genetic conditions and their carers: a think aloud qualitative study by Mackenzie Bourke, Xuemin Zhu, Tiffany Boughtwood, Clara Gaff, Amy Hunter, Brendan Mulhern, Tessa Peasgood, Clare Stuart, James Buchanan, Ilias Goranitis (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13310824.txt.
Description
Mackenzie Bourke led a 2026 interview study on whether standard life quality forms fit people with rare genetic conditions and their carers. Forms built for general health may miss key parts of rare disease life. The team asked adults, carers, and proxies for children to speak aloud while filling in three forms.
Sixty interviews took place in Australia and England. Most people grasped the forms and backed their use for patients. Carers wanted a wider lens than health alone. Missed themes included drug access, work and money strain, doubt, passing a condition to children, and care system strain. Broader forms may serve carers better.
Catalog record
| CREATOR | Mackenzie Bourke, Xuemin Zhu, Tiffany Boughtwood, Clara Gaff, Amy Hunter, Brendan Mulhern, Tessa Peasgood, Clare Stuart, James Buchanan, Ilias Goranitis |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 108563 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |