Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023752%3A_____%2F22%3A43920970" target="_blank" >RIV/00023752:_____/22:43920970 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/22:10451058 RIV/00216208:11120/22:43924359

Výsledek na webu

<a href="https://www.mdpi.com/2075-4426/12/12/1941" target="_blank" >https://www.mdpi.com/2075-4426/12/12/1941</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/jpm12121941" target="_blank" >10.3390/jpm12121941</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

Psychosocial Impact of Huntington’s Disease and Incentives to Improve Care for Affected Families in the Underserved Region of the Slovak Republic

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30215 - Psychiatry

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Personalized Medicine

ISSN

2075-4426

e-ISSN

2075-4426

Svazek periodika

12

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

16

Strana od-do

"Article Number: 1941"

Kód UT WoS článku

000902468000001

EID výsledku v databázi Scopus

2-s2.0-85144657088