Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Hubcikova K

PROVIDER: S-EPMC9783383 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Hubčíková Katarína K Rakús Tomáš T Mühlbäck Alžbeta A Benetin Ján J Bruncvik Lucia L Petrášová Zuzana Z Bušková Jitka J Brunovský Martin M

Journal of personalized medicine 20221122 12

<h4>Introduction</h4>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.<h4>Methods</h4>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 question ...[more]

PMID: 36556162

Similar Datasets

Project description:BackgroundProviding hospital care is an essential objective of national health policies. The countries that share common history, when they emerged from the same health system and similar conditions in the early 1990s, after the division of Czechoslovakia, became the objects of evaluation of the development of technical efficiency of hospital care. The subsequent development of their health care system also was very similar, but no longer entirely identical. The article aims to identify the trends and disparities in the productivity of the capacities of hospital care on the regional level (NUTS III.) in the Czech Republic and the Slovak Republic in 2009-2018 before the COVID-19 pandemic using the multi-criteria decision methods.MethodsThe window analysis as a dynamic DEA method based on moving averages and also the Malmquist Index, that allows the evaluation of changes in relative efficiency and of changes in the production possibilities frontier have become the key methods for evaluating the over time efficiency evolution. To model technical efficiency, an output-oriented method assuming constant returns to scale was chosen. Aggregated input and output parameters for each region were the object of study.ResultsThe results showed that differences in the efficiency trends in terms of the examined parameters among the individual regions are slightly greater in the Czech Republic than in the Slovak Republic. The least efficient regions are those where capital cities are located. Furthermore, the analysis showed that in 2018 all of the Slovak Republic regions improved its productivity compared to 2009 and that technological conditions had a significant impact on this improvement. The results of the Czech Republic regions show productivity improvement in 57% of the regions that, on the contrary, was due to changes in technical efficiency.ConclusionsIt should be recommended to the state- and regional-level governments to refrain from unilaterally preferring the orientation of public policies on the efficiency of the provision of hospital care, and rather focus on increasing the quality and availability of hospital care, especially in smaller, rural, and border regions, in the interest of population safety during pandemics and other emergencies.

Project description:BackgroundAchondroplasia (ACH) is one of the most prevalent genetic forms of short-limbed skeletal dysplasia, caused by gain-of-function mutations in the receptor tyrosine kinase FGFR3. In August 2021, the C-type natriuretic peptide (CNP) analog vosoritide was approved for the treatment of ACH. A total of six other inhibitors of FGFR3 signaling are currently undergoing clinical evaluation for ACH. This progress creates an opportunity for children with ACH, who may gain early access to the treatment by entering clinical trials before the closure of their epiphyseal growth plates and cessation of growth. Pathophysiology associated with the ACH, however, demands a long observational period before admission to the interventional trial. Public patient registries can facilitate the process by identification of patients suitable for treatment and collecting the data necessary for the trial entry.ResultsIn 2015, we established the prospective ACH registry in the Czechia and the Slovak Republic ( http://www.achondroplasia-registry.cz ). Patient data is collected through pediatric practitioners and other relevant specialists. After informed consent is given, the data is entered to the online TrialDB system and stored in the Oracle 9i database. The initial cohort included 51 ACH children (average age 8.5 years, range 3 months to 14 years). The frequency of selected neurological, orthopedic, or ORL diagnoses is also recorded. In 2015-2021, a total of 89 measurements of heights, weights, and other parameters were collected. The individual average growth rate was calculated and showed values without exception in the lower decile for the appropriate age. Evidence of paternal age effect was found, with 58.7% of ACH fathers older than the general average paternal age and 43.5% of fathers older by two or more years. One ACH patient had orthopedic limb extension and one patient received growth hormone therapy. Low blood pressure or renal impairment were not found in any patient.ConclusionThe registry collected the clinical information of 51 pediatric ACH patients during its 6 years of existence, corresponding to ~ 60% of ACH patients living in the Czechia and Slovak Republic. The registry continues to collect ACH patient data with annual frequency to monitor the growth and other parameters in preparation for future therapy.

Dataset Information

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

Introduction

Methods

Results

Conclusion

Limitations

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets