Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Hubčíková, Katarína, Rakús, Tomáš, Mühlbäck, Alžbeta, Benetin, Ján, Bruncvik, Lucia, Petrášová, Zuzana, Bušková, Jitka, Brunovský, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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
_version_ 1784857565806460928
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
work_keys_str_mv AT hubcikovakatarina psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT rakustomas psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT muhlbackalzbeta psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT benetinjan psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT bruncviklucia psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT petrasovazuzana psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT buskovajitka psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic
AT brunovskymartin psychosocialimpactofhuntingtonsdiseaseandincentivestoimprovecareforaffectedfamiliesintheunderservedregionoftheslovakrepublic