Maria Dale

Chronic illness is a profoundly life-changing experience not only for the individuals affected but also for those who care for them, particularly romantic partners (Forestier et al., 2019; Helgeson...

Many individuals affected by the hereditary neurological condition Huntington's disease (HD) have reported experiences of stigmatization, yet the extant literature is currently theoretically and methodologically underdeveloped. Therefore, this scoping review aimed to examine the methodological approaches and theoretical conceptualizations of stigma used and to identify areas of underrepresentation given the emerging evidence base. A systematic search of five databases and hand‐searches of included papers resulted in 3273 articles. Thirty‐two met predefined inclusion criteria, which included primary research reporting experiences of stigma by people with HD or who have an inherited genetic risk. Selected articles represented qualitative (59% of included papers), quantitative (22%), and mixed‐methods (19%) designs. Almost half did not provide theoretical definitions of stigma. Theories describing societal unacceptance based upon a discrediting attribute of an individual by the sociologist Erving Goffman, and of discrimination solely based upon real/perceived differences from the typical genome, were most prominent among theories referenced, conceptualizing stigma and genetic discrimination respectively. Findings suggested a limited theoretical grounding of stigma in primary research exploring HD, with a lack of discussion around conceptualizations of stigma applied to people affected by HD. Future research should apply clear definitions to differentiate constructs contributing to different forms of stigma and could explore whether experiences of stigma and support needs might differ across groups affected by HD. Implications for theoretical development and multilevel interventions are also discussed.

People with Huntington's disease (HD) commonly experience anxiety, yet access to psychological interventions remains limited. Guided self-help is a low-cost, scalable, evidence-based approach with the potential to improve access to psychological support. This qualitative study aimed to explore participants' experience of GUIDE-HD, a remote guided self-help intervention designed to address anxiety in people with HD based on cognitive behavioural therapy and acceptance and commitment therapy, by examining: (i) the acceptability of the intervention, (ii) any perceived benefits or challenges, and (iii) ways to enhance its relevance and accessibility for people with HD (pwHD). Qualitative individual semi-structured interviews were conducted with nine pwHD and three carers and analysed using framework analysis. Three overarching themes emerged: (1) A therapeutic journey for people with and affected by HD; (2) Mechanisms of benefit; (3) Experiencing various gains. Participants valued the intervention's relevance, structure, accessibility, personalization and facilitation. Reported gains extended beyond reduced anxiety to increased acceptance of the realities of living with and managing the condition and better relationships. While a number of limitations should be considered, such as the sample size and its predominant female representation, the GUIDE-HD intervention was acceptable and showed promise as a tailored psychological approach for pwHD.

Background: Caregivers of people with Parkinson’s disease are at risk of experiencing caregiver burden . Understanding contributing factors is required to develop appropriate targeted interventions and support for this group. This systematic review provides an updated appraisal and synthesis of quantitative studies assessing predictors of burden among informal caregivers of people with Parkinson’s. Method: Five electronic databases (APA PsycINFO, CINAHL, MEDLINE, Web of Science, and Cochrane Library) were systematically searched (from inception until July 2024), supplemented by hand-searches. Study quality was assessed using the cross-sectional JBI Critical Appraisal Checklist. Results were synthesized narratively. Results: Forty-one studies were included. Predictors of increased burden included greater impact of motor symptoms on activities of daily living, greater severity of neuropsychiatric symptoms, poorer quality of life of the person with Parkinson’s, and poorer caregiver mental health. Demographics, presence of motor symptoms, motor complications, and general cognitive function did not predict burden. Evidence was inconclusive for several variables including disease stage and duration, motor symptom severity, functional ability, overall non-motor symptoms, mental health of the person with Parkinson’s, and caregivers’ involvement and protective factors. Conclusion: Several areas for potential future intervention are indicated, although methodological weaknesses within the literature constrain the robustness of conclusions. Key areas for future research include exploring understudied variables (caregiver personality and coping style, relationship quality, and positive aspects of caregiving) that may be important predictors of burden, specifying and utilizing a more consistent definition of “informal caregiver,” and recruiting younger and non-spousal caregivers and more diverse samples regarding disease severity.

Living at risk of a genetically inherited disease can be a challenging experience causing psychological distress as well as the possibility of the genetic disease leading to physical health problems. Huntington's disease (HD) is a genetic, neurodegenerative condition. It causes motor dysfunction, cognitive decline and, during the progression of the disease, different psychological difficulties are common. A total of 12 participants living at risk of HD were interviewed and interpretative phenomenological analysis methodology was used to understand their experiences of maintaining psychological well‐being. This resulted in three themes: (1) “you're constantly in limbo”: living in two worlds; (2) “I have to live, just bloody live”: managing the possibility of a time‐limited lifespan; and (3) “I try and try my hardest to look past the disease”: the exhausting quest to keep living well. The findings indicated a need for improved knowledge within professional settings, such as for family doctors, counselors, and other health professionals, specific strategies that genetic counselors can use to support this group, and provision of accessible support and implementation of systemic interventions that would offer support for psychological coping strategies and communication around well‐being to the individual and their family unit. Future research could contribute to the formation of such knowledge and the provision of HD‐aligned services to help support the psychological well‐being of people living at risk of HD.

Huntington's disease is a genetic neurodegenerative condition with wide physical and psychological impacts. Children of a parent with the condition have a 50% chance of carrying the gene expansion and developing the condition themselves. This systematic review and meta‐ethnography presents a synthesis of the qualitative research on the experiences of young people growing up in a family with Huntington's disease. The MEDLINE, PsycINFO, and CINAHL databases were systematically searched, and 13 papers met the inclusion criteria. Through the process of meta‐ethnography, four themes were identified highlighting aspects of childhood that were stolen and fought for: thief of relationships, thief of self, thief of transparency, and search for reclamation. Within the themes, the complex challenges young people faced when growing up in a HD family were explored such as the impact of adverse childhood experiences and the possible effects of HD on attachment and social relationships. Clinical implications are considered, and recommendations are made for future research.

Huntington’s disease (HD) is a rare and complex condition where affected individuals, family members, caregivers, and clinicians face a number of both long-term and fluctuating challenges. The predominant biomedical framework adopted in HD to date has traditionally viewed it as a brain disorder first and foremost. As a consequence, one of the most challenging aspects of the condition—psychological difficulties and their care—is often not given the emphasis it deserves in everyday clinical practice. Here, we propose a manifesto outlining five points to address the quality, effectiveness, availability, and accessibility of psychological care in HD. These include (1) Listening to People with HD, (2) Reformulating Difficulties Psychologically, (3) Exploring New Interventions, (4) Increasing Psychological Provision, and (5) Learning from Other Conditions. As the search for a cure continues, we hope that this manifesto will create a new impetus towards refining the current approach to psychological difficulties in HD and ultimately improve the quality of life of the tens of thousands of families affected by HD worldwide.

Background: Elevated levels of irritability are reported to occur in a number of neurological conditions, including Huntington's disease (HD), a genetic neurodegenerative disorder. Snaith's Irritability Scale (SIS) is used within HD research, but no psychometric evaluation of this instrument has previously been undertaken. Therefore, the current study aimed to analyze the factor structure of this scale among an HD population.Methods: Exploratory and confirmatory factor analysis were used to examine the structural properties of SIS using responses from 1,264 HD gene expansion carriers, across 15 European countries, who were engaged in the REGISTRY 3 study.Results: An exploratory factor analysis of a subsample of the data suggested a two‐factor interpretation of the data comprising “temper” and “self‐harm.” Eight possible models were tested for goodness of fit using confirmatory factor analysis. Two bifactor models, testing general and group factors in the structure of the scale, provided an equivocal “good” fit to the data. The first comprised a general irritability factor and two group factors (as originally proposed using SIS): outward irritability and inward irritability. The second comprised a general irritability factor and two group factors (as proposed by the exploratory factor analysis): temper and self‐harm. The findings from both models suggested that the loadings of items were higher on the general factor.Conclusions: Bifactor models are proposed to best consider the structure of the SIS, with findings suggesting that an overall score should be used to measure irritability within HD populations.