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Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic
Introduction: Huntington’s disease (HD) is often on the margin of standard medical practice due to its low prevalence, the lack of causal treatment, and the typically long premanifest window prior to the onset of the symptoms, which contrasts with the long-lasting burden that the disease causes in a...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783383/ https://www.ncbi.nlm.nih.gov/pubmed/36556162 http://dx.doi.org/10.3390/jpm12121941 |
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author | Hubčíková, Katarína Rakús, Tomáš Mühlbäck, Alžbeta Benetin, Ján Bruncvik, Lucia Petrášová, Zuzana Bušková, Jitka Brunovský, Martin |
author_facet | Hubčíková, Katarína Rakús, Tomáš Mühlbäck, Alžbeta Benetin, Ján Bruncvik, Lucia Petrášová, Zuzana Bušková, Jitka Brunovský, Martin |
author_sort | Hubčíková, Katarína |
collection | PubMed |
description | Introduction: Huntington’s disease (HD) is often on the margin of standard medical practice due to its low prevalence, the lack of causal treatment, and the typically long premanifest window prior to the onset of the symptoms, which contrasts with the long-lasting burden that the disease causes in affected families. Methods: To capture these socio-psychological aspects of HD and map the experiences of affected individuals, persons at risk of HD, and caregivers, we created a questionnaire using a qualitative research approach. The questionnaire containing 16 questions was conducted online for a period of three months through patient associations in Slovakia and their infrastructures. Results: In total, we received 30 responses. The survey results, in particular, indicate insufficient counselling by physicians with explicitly missing information about the possibility of preimplantation genetic diagnostic. There was also a necessity to improve comprehensive social and health care in the later stages of the disease, raise awareness of the disease in the general health community, and provide more information on ongoing clinical trials. Conclusion: The psychosocial effects, as well as the burden, can be mitigated by comprehensive genetic counselling as well as reproductive and financial guidelines and subsequent therapeutic programs to actively support patients, caregivers, children, and adolescents growing up in affected families, preferably with the help of local HD community association. Limitations: We have used online data collection to reach a wider HD community, but at the same time, we are aware that the quality of the data we would obtain through face-to-face interviews would be considerably better. Therefore, future studies need to be conducted to obtain more detailed information. |
format | Online Article Text |
id | pubmed-9783383 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-97833832022-12-24 Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic Hubčíková, Katarína Rakús, Tomáš Mühlbäck, Alžbeta Benetin, Ján Bruncvik, Lucia Petrášová, Zuzana Bušková, Jitka Brunovský, Martin J Pers Med Article Introduction: Huntington’s disease (HD) is often on the margin of standard medical practice due to its low prevalence, the lack of causal treatment, and the typically long premanifest window prior to the onset of the symptoms, which contrasts with the long-lasting burden that the disease causes in affected families. Methods: To capture these socio-psychological aspects of HD and map the experiences of affected individuals, persons at risk of HD, and caregivers, we created a questionnaire using a qualitative research approach. The questionnaire containing 16 questions was conducted online for a period of three months through patient associations in Slovakia and their infrastructures. Results: In total, we received 30 responses. The survey results, in particular, indicate insufficient counselling by physicians with explicitly missing information about the possibility of preimplantation genetic diagnostic. There was also a necessity to improve comprehensive social and health care in the later stages of the disease, raise awareness of the disease in the general health community, and provide more information on ongoing clinical trials. Conclusion: The psychosocial effects, as well as the burden, can be mitigated by comprehensive genetic counselling as well as reproductive and financial guidelines and subsequent therapeutic programs to actively support patients, caregivers, children, and adolescents growing up in affected families, preferably with the help of local HD community association. Limitations: We have used online data collection to reach a wider HD community, but at the same time, we are aware that the quality of the data we would obtain through face-to-face interviews would be considerably better. Therefore, future studies need to be conducted to obtain more detailed information. MDPI 2022-11-22 /pmc/articles/PMC9783383/ /pubmed/36556162 http://dx.doi.org/10.3390/jpm12121941 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Hubčíková, Katarína Rakús, Tomáš Mühlbäck, Alžbeta Benetin, Ján Bruncvik, Lucia Petrášová, Zuzana Bušková, Jitka Brunovský, Martin Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title | Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title_full | Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title_fullStr | Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title_full_unstemmed | Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title_short | Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic |
title_sort | psychosocial impact of huntington’s disease and incentives to improve care for affected families in the underserved region of the slovak republic |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9783383/ https://www.ncbi.nlm.nih.gov/pubmed/36556162 http://dx.doi.org/10.3390/jpm12121941 |
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