Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

Abstract 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 expl...

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Autores principales:	Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe, Claire Burbridge
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Niemann pick Type-C NPC Impacts Illness burden Qualitative Medicine R
Acceso en línea:	https://doaj.org/article/04afd113d8674f91a5645ce4861fc91f
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spelling	oai:doaj.org-article:04afd113d8674f91a5645ce4861fc91f2021-11-28T12:22:49ZImpacts and Burden of Niemann pick Type-C: a patient and caregiver perspective10.1186/s13023-021-02105-81750-1172https://doaj.org/article/04afd113d8674f91a5645ce4861fc91f2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02105-8https://doaj.org/toc/1750-1172Abstract 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 the 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.Eugen MengelMarc C. PattersonMichael ChladekChristina GuldbergChristine í DaliTara SymondsLucy Lloyd-PriceToni MathiesonJoslyn CroweClaire BurbridgeBMCarticleNiemann pick Type-CNPCImpactsIllness burdenQualitativeMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Niemann pick Type-C NPC Impacts Illness burden Qualitative Medicine R
spellingShingle	Niemann pick Type-C NPC Impacts Illness burden Qualitative Medicine R Eugen Mengel Marc C. Patterson Michael Chladek Christina Guldberg Christine í Dali Tara Symonds Lucy Lloyd-Price Toni Mathieson Joslyn Crowe Claire Burbridge Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
description	Abstract 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 the 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.
format	article
author	Eugen Mengel Marc C. Patterson Michael Chladek Christina Guldberg Christine í Dali Tara Symonds Lucy Lloyd-Price Toni Mathieson Joslyn Crowe Claire Burbridge
author_facet	Eugen Mengel Marc C. Patterson Michael Chladek Christina Guldberg Christine í Dali Tara Symonds Lucy Lloyd-Price Toni Mathieson Joslyn Crowe Claire Burbridge
author_sort	Eugen Mengel
title	Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
title_short	Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
title_full	Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
title_fullStr	Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
title_full_unstemmed	Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
title_sort	impacts and burden of niemann pick type-c: a patient and caregiver perspective
publisher	BMC
publishDate	2021
url	https://doaj.org/article/04afd113d8674f91a5645ce4861fc91f
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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective

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