scholarly journals Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

BMJ ◽  
2009 ◽  
Vol 338 (jun08 3) ◽  
pp. b2175-b2175 ◽  
Author(s):  
Y. Bombard ◽  
G. Veenstra ◽  
J. M Friedman ◽  
S. Creighton ◽  
L. Currie ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Discrimination ◽  
Cross Sectional Survey ◽  
Cross Sectional

scholarly journals Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

2021 ◽  
Vol 11 (12) ◽  
pp. 1621
Author(s):  
Jannis Achenbach ◽  
Carsten Saft
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Family Members ◽  
Large Cohort ◽  
Cognitive Test ◽  
Registry Study ◽  
Cross Sectional ◽  
Cognitive Capacities ◽  
Global Registry

Background: In addition to the effects on patients suffering from motor-manifest Huntington’s disease (HD), this fatal disease is devasting to people who are at risk, premanifest mutation-carriers, and especially to whole families. There is a huge burden on people in the environment of affected HD patients, and a need for further research to identify at-risk caregivers. The aim of our research was to investigate a large cohort of family members, in comparison with genotype negative and premanifest HD in order to evaluate particular cohorts more closely. Methods: We used the ENROLL-HD global registry study to compare motoric, cognitive, functional, and psychiatric manifestation in family members, premanifest HD, and genotype negative participant as controls. Cross-sectional data were analyzed using ANCOVA-analyses in IBM SPSS Statistics V.28. Results: Of N = 21,116 participants from the global registry study, n = 5174 participants had a premanifest motor-phenotype, n = 2358 were identified as family controls, and n = 2640 with a negative HD genotype. Analysis of variance revealed more motoric, cognitive, and psychiatric impairments in premanifest HD (all p < 0.001). Self-reported psychiatric assessments revealed a significantly higher score for depression in family controls (p < 0.001) when compared to genotype negative (p < 0.001) and premanifest HD patients (p < 0.05). Family controls had significantly less cognitive capacities within the cognitive test battery when compared to genotype negative participants. Conclusions: Within the largest cohort of HD patients and families, several impairments of motoric, functional, cognitive, and psychiatric components can be confirmed in a large cohort of premanifest HD, potentially due to prodromal HD pathology. HD family controls suffered from higher self-reported depression and less cognitive capacities, which were potentially due to loaded or stressful situations. This research aims to sensitize investigators to be aware of caregiver burdens caused by HD and encourage support with socio-medical care and targeted psychological interventions. In particular, further surveys and variables are necessary in order to implement them within the database so as to identify at-risk caregivers.

scholarly journals Differential Diagnosis of Chorea—HIV Infection Delays Diagnosis of Huntington’s Disease by Years

2021 ◽  
Vol 11 (6) ◽  
pp. 710
Author(s):  
Jannis Achenbach ◽  
Simon Faissner ◽  
Carsten Saft
Keyword(s):  
Hiv Infection ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Depression Scale ◽  
Cag Repeat ◽  
Psychiatric Disease ◽  
Disease Manifestation ◽  
Cross Sectional

Background: There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington’s disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. Methods: First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. Results: The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of n = 21,116 participants in ENROLL-HD, we identified n = 10,125 motor-manifest HD patients. n = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to n = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger (p < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD (p < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all p < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all p < 0.05). Conclusions: The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease

1990 ◽  
Vol 28 (5) ◽  
pp. 614-621 ◽  
Author(s):  
Scott T. Grafton ◽  
John C. Mazziotta ◽  
Jorg J. Pahl ◽  
Peter St. George-Hyslop ◽  
Jonathan L. Haines ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Evaluations

Young People Living at Risk of Huntington’s Disease: The Lived Experience

2018 ◽  
Vol 7 (4) ◽  
pp. 391-402 ◽  
Author(s):  
Miranda F. Lewit-Mendes ◽  
Georgia C. Lowe ◽  
Sharon Lewis ◽  
Louise A. Corben ◽  
Martin B. Delatycki
Keyword(s):  
At Risk ◽  
Young People ◽  
Huntington's Disease ◽  
Lived Experience ◽  
Huntington’S Disease

scholarly journals Corona virus fear among health workers during the early phase of pandemic response in Nepal: a web-based cross-sectional study

2020 ◽  
Author(s):  
Pratik Khanal ◽  
Navin Devkota ◽  
Minakshi Dahal ◽  
Kiran Paudel ◽  
Shiva Raj Mishra ◽  
...  
Keyword(s):  
At Risk ◽  
Family Member ◽  
Chronic Diseases ◽  
Early Phase ◽  
Health Workers ◽  
Cross Sectional Study ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Web Based ◽  
Factors Associated

AbstractBackgroundHealth workers involved in COVID-19 response might be at risk of developing fear and psychological distress. This study aimed to identify factors associated with COVID-19 fear among health workers in Nepal during the early phase of pandemic.MethodsA web-based cross-sectional survey was conducted in the month of April-May 2020 among 475 health workers directly involved in COVID-19 management. The Fear Scale of COVID 19 (FCV-19S) was used to measure the status of fear. Scatter plots were used to observe the relationship between fear and other psychological outcomes: anxiety, depression and insomnia. Multivariable logistic regression was done to identify factors associated with COVID fear.ResultsCOVID-19 fear score was moderately correlated with anxiety and depression, and weakly correlated with insomnia (p<0.001). Nurses (AOR=2.29; 95% CI: 1.23-4.26), health workers experiencing stigma (AOR=1.83; 95% CI: 1.12-2.73), those working in affected district(AOR=1.76; 95% CI: 1.12-2.77) and presence of family member with chronic diseases (AOR=1.50; 95% CI: 1.01-2.25) was associated with higher odds of developing COVID-19 fear as compared to other health workers, health workers not experiencing stigma, working in non-affected district and not having family member with chronic diseases respectively.ConclusionNurses, health workers facing stigma, those working in affect district and having family member with chronic diseases were more at risk of developing COVID-19 fear. It is thus recommended to improve work environment to reduce fear among health workers, employ stigma reduction interventions, and ensure personal and family support for those having family member with chronic diseases.

scholarly journals Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington’s Disease: A Survey Conducted by the European Huntington Association

2021 ◽  
Vol 11 (8) ◽  
pp. 815
Author(s):  
Filipa Júlio ◽  
Ruth Blanco ◽  
Josè Perez Casanova ◽  
Barbara D’Alessio ◽  
Beatrice De Schepper ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Research Participation ◽  
Willingness To Participate ◽  
Research Experience ◽  
Research Information ◽  
Research Knowledge ◽  
Patient Organizations ◽  
Motivation To Participate

There has been great progress in Huntington’s disease (HD) research. Yet, effective treatments to halt disease before the onset of disabling symptoms are still unavailable. Scientific breakthroughs require an active and lasting commitment from families. However, they are traditionally less involved and heard in studies. Accordingly, the European Huntington Association (EHA) surveyed individuals at risk (HDRisk) and with premanifest HD (PreHD) to determine which factors affect their willingness to participate in research. Questions assessed research experience and knowledge, information sources, reasons for involvement and noninvolvement, and factors preventing and facilitating participation. The survey included 525 individuals, of which 68.8% never participated in studies and 38.6% reported limited research knowledge. Furthermore, 52% trusted patient organizations to get research information. Reasons for involvement were altruistic and more important than reasons for noninvolvement, which were related to negative emotions. Obstacles included time/financial constraints and invasive procedures, while professional support was seen as a facilitator. PreHD individuals reported less obstacles to research participation than HDRisk individuals. Overall, a high motivation to participate in research was noted, despite limited experience and literacy. This motivation is influenced by subjective and objective factors and, importantly, by HD status. Patient organizations have a key role in fostering motivation through education and support.

scholarly journals Identifying At-Risk Youth

2020 ◽  
Vol 1 (1) ◽  
pp. 7-29
Author(s):  
Femke Geusens ◽  
Cabral A. Bigman-Galimore ◽  
Kathleen Beullens
Keyword(s):  
At Risk ◽  
Social Media ◽  
Personality Traits ◽  
Emerging Adults ◽  
Sensation Seeking ◽  
Drinking Behavior ◽  
Peer Pressure ◽  
Future Research ◽  
Cross Sectional Survey ◽  
Cross Sectional

Background & purpose. Research indicates a positive relationship between sharing alcohol references on social media and drinking behavior. The current study extends that line of research by assessing the interaction of risk-related personality traits with alcohol-related social media use, to examine if social media can be used to identify individuals at risk for heavy drinking behavior. Methods & results. The results of a cross-sectional survey among a sample of 638 emerging adults (age 18-25) find that the positive association between sharing alcohol references on social media and drinking intention was strongest for individuals with low levels of sensation seeking and sensitivity to peer pressure, and high levels of self-control, and non-significant for those on the other end of these personality traits. Conclusions. These findings indicate that the relationship between sharing alcohol references and drinking intentions is not uniform for all individuals, and that risk-related individual differences should be considered in future research and interventions.

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