See the published version of this preprint at Orphanet Journal of Rare Diseases.
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Research
Claire Burbridge
Clinical Outcomes Solutions
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0117-7169
License:
This work is licensed under a CC BY 4.0 License. Read Full License
Background
Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease.
Results
A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months – 65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL.
Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers).
Conclusions
Ambulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.
Trial registration
NCT02612129. Registered 23 November 2015, https://clinicaltrials.gov/ct2/show/NCT02612129
Keywords
Niemann Pick Type-C, NPC, impacts, illness burden, qualitative
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CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 1
Posted 14 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 12 Jul, 2021
Review #2 received
Received 08 Jul, 2021
Reviews received
Received 23 Jun, 2021
Reviewer #2 agreed
On 23 Jun, 2021
Review #1 received
Received 27 Mar, 2021
Reviewer #1 agreed
On 25 Feb, 2021
Reviewers invited
Invitations sent on 17 Jan, 2021
First submitted
On 03 Jan, 2021
Editor assigned
On 03 Jan, 2021
Submission checks complete
On 03 Jan, 2021
Editor invited
On 03 Jan, 2021
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Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
See the published version of this preprint at Orphanet Journal of Rare Diseases.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Claire Burbridge
Clinical Outcomes Solutions
Corresponding Author
ORCiD: https://orcid.org/0000-0003-0117-7169
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 1
Posted 14 Jan, 2021
No community comments so far
Editorial decision: Major revision
On 12 Jul, 2021
Review #2 received
Received 08 Jul, 2021
Reviews received
Received 23 Jun, 2021
Reviewer #2 agreed
On 23 Jun, 2021
Review #1 received
Received 27 Mar, 2021
Reviewer #1 agreed
On 25 Feb, 2021
Reviewers invited
Invitations sent on 17 Jan, 2021
First submitted
On 03 Jan, 2021
Editor assigned
On 03 Jan, 2021
Submission checks complete
On 03 Jan, 2021
Editor invited
On 03 Jan, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background
Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease.
Results
A survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months – 65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL.
Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers).
Conclusions
Ambulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.
Trial registration
NCT02612129. Registered 23 November 2015, https://clinicaltrials.gov/ct2/show/NCT02612129
Figure 1
Figure 2
Figure 3
Figure 4
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