Preliminary development of proxy-rated quality-of-life scales for children and adults with Niemann-Pick type C


OBJECTIVES: Niemann-Pick disease type C (NPC) is a rare life-limiting disease for which there is no cure. No scales currently exist to measure the impact of medication, physical therapy or clinical trials. The aim of this study was to develop age-appropriate Quality-of-Life (QoL) scales to measure the impact of NPC on children and adults. DESIGN: Scale development study using a phenomenological approach to data generation and analysis. METHODS: Fourteen interviews were conducted with people living with NPC and/or their parents/carers. Themes were generated and examined against an existential-phenomenological theory of wellbeing. A matrix was constructed to represent the phenomenological insight gained on participants' subjective experiences and a bank of items that were related to their QoL was developed. RESULTS: NPC quality-of-life questionnaires for children (NPCQLQ-C) and adults (NPCQLQ-A) proxy prototype scales were produced and completed by 23 parents/carers of children (child age mean = 8.61 years) and 20 parents/carers of adults (adult age = 33.4 years). Reliability analysis resulted in a 15-item NPCQLQ-C and a 30-item NPCQLQ-A, which showed excellent internal consistency, Cronbach's α = 0.925 and 0.947, respectively. CONCLUSION: The NPCQLQ-C and NPCQLQ-A are the first disease-specific QoL scales to be developed for people living with NPC. This novel approach to scale development values the experiential, real life impact of living with NPC and focused on the lived-experiences and impact on QoL. The scales will enable healthcare professionals and researchers to have a better understanding and quantifiable measurement of the impact of living with NPC on a patient's daily life.

Publication DOI:
Divisions: College of Health & Life Sciences
College of Health & Life Sciences > School of Psychology
Additional Information: © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Uncontrolled Keywords: Lifeworld theory,Niemann-Pick type C,Phenomenology,Proxy scales,Quality of life,Public Health, Environmental and Occupational Health
Publication ISSN: 1573-2649
Last Modified: 08 Apr 2024 07:25
Date Deposited: 24 Jun 2019 08:05
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Related URLs: https://link.sp ... 136-019-02234-5 (Publisher URL)
http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type: Article
Published Date: 2019-11-01
Published Online Date: 2019-06-21
Accepted Date: 2019-06-14
Authors: Aston, Lydia
Shaw, Rachel L (ORCID Profile 0000-0002-0438-7666)
Knibb, Rebecca C (ORCID Profile 0000-0001-5561-0904)



Version: Accepted Version

Access Restriction: Restricted to Repository staff only


Version: Published Version

License: Creative Commons Attribution

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