Maintaining psychological well-being when living at risk of Huntington's disease: An interpretative phenomenological analysis.

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.

Experiences of young people growing up in a family with Huntington's disease: A meta-ethnography of qualitative research.

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.

The experience of a sample of individuals in the United Kingdom living in the pre-manifest stage of Huntington's disease: An interpretative phenomenological analysis.

This paper explores the experience of ten individuals living in the UK who were in the pre-manifest stage of Huntington's disease (HD), a genetic neurodegenerative condition. Data were gathered using semi-structured interviews and analyzed using interpretative phenomenological analysis. Three themes were reported from the data: 'feeling limited by time', 'the perception of stalling time', and 'making the most of time', all highlighting the way in which time holds significant meaning when living in the pre-manifest stage of HD. This study has highlighted the difficulties experienced by individuals when adjusting to the pre-manifest stage of HD. Feeling able to manage their anxieties and dealing with ongoing uncertainty related to future deterioration was key to supporting their wellbeing, facilitated by factors such as positivity and hope. Individuals may benefit from counseling which supports them to develop proactive coping strategies to manage their anxieties and acceptance of an uncertain future.

Assessing Mental Health Difficulties of Persons With Huntington's Disease: Does Informant Presence Make a Difference?

OBJECTIVE: Persons with Huntington's disease (HD) often have communication difficulties and cognitive impairments, making mental health assessment difficult. Informants close to the patient are often included in assessments. The authors investigated effects of informant presence during assessment of persons with HD. METHODS: Data for four subsamples from ENROLL-HD were examined: manifest for HD (N=4,109), premanifest (N=1,790), genotype negative (N=1,041), and family members with no genetic risk (N=974). Assessment interviews with and without an informant present were identified, and the subsamples were compared on three subscales of the short-form Problem Behaviors Assessment: affect, apathy, and irritability. Differences in scores between participant-only and informant-present interviews were examined via multiple regression, controlling for demographic, disease-related, and individual confounds. RESULTS: Significant differences in apathy and irritability scores were found between participant-only and informant-present conditions for the premanifest, manifest, and genotype-negative subsamples. Affect subscale scores were not influenced by informant presence. When the analysis controlled for confounds, informant presence significantly increased irritability scores in the manifest, and genotype-negative groups and significantly increased apathy scores in the manifest group. CONCLUSIONS: Apathy may have been systemically underreported in participant-only interviews, which supports previous findings that persons with HD underreport mental health symptoms. When an informant was present, irritability scores were higher for both HD and non-HD individuals, suggesting that underreporting via self-report may be attributable to non-HD factors. Informant contributions to apathy assessments may be particularly important for persons with HD. Clinicians should note potential underreporting regarding irritability and affect, which was not remediated by informant presence.

Intake of sucrose-sweetened soft beverages during pregnancy and risk of congenital heart defects (CHD) in offspring: a Norwegian pregnancy cohort study.

Studies report increased risk of congenital heart defects (CHD) in the offspring of mothers with diabetes, where high blood glucose levels might confer the risk. We explored the association between intake of sucrose-sweetened soft beverages during pregnancy and risk of CHD. Prospective cohort data with 88,514 pregnant women participating in the Norwegian Mother and Child Cohort Study was linked with information on infant CHD diagnoses from national health registers and the Cardiovascular Diseases in Norway Project. Risk ratios were estimated by fitting generalized linear models and generalized additive models. The prevalence of children with CHD was 12/1000 in this cohort (1049/88,514). Among these, 201 had severe and 848 had non-severe CHD (patent ductus arteriosus; valvular pulmonary stenosis; ventricular septal defect; atrial septal defect). Only non-severe CHD was associated with sucrose-sweetened soft beverages. The adjusted risk ratios (aRR) for non-severe CHD was 1.30 (95% CI 1.07-1.58) for women who consumed 25-70 ml/day and 1.27 (95% CI 1.06-1.52) for women who consumed ≥ 70 ml/day when compared to those drinking ≤ 25 ml/day. Dose-response analyses revealed an association between the risk of non-severe CHD and the increasing exposure to sucrose-sweetened soft beverages, especially for septal defects with aRR = 1.26 (95% CI 1.07-1.47) per tenfold increase in daily intake dose. The findings persisted after adjustment for maternal diabetes or after excluding mothers with diabetes (n = 19). Fruit juices, cordial beverages and artificial sweeteners showed no associations with CHD. The findings suggest that sucrose-sweetened soft beverages may affect the CHD risk in offspring.

Association of light-to-moderate alcohol drinking in pregnancy with preterm birth and birth weight: elucidating bias by pooling data from nine European cohorts.

Women who drink light-to-moderately during pregnancy have been observed to have lower risk of unfavourable pregnancy outcomes than abstainers. This has been suggested to be a result of bias. In a pooled sample, including 193 747 live-born singletons from nine European cohorts, we examined the associations between light-to-moderate drinking and preterm birth, birth weight, and small-for-gestational age in term born children (term SGA). To address potential sources of bias, we compared the associations from the total sample with a sub-sample restricted to first-time pregnant women who conceived within six months of trying, and examined whether the associations varied across calendar time. In the total sample, drinking up to around six drinks per week as compared to abstaining was associated with lower risk of preterm birth, whereas no significant associations were found for birth weight or term SGA. Drinking six or more drinks per week was associated with lower birth weight and higher risk of term SGA, but no increased risk of preterm birth. The analyses restricted to women without reproductive experience revealed similar results. Before 2000 approximately half of pregnant women drank alcohol. This decreased to 39% in 2000-2004, and 14% in 2005-2011. Before 2000, every additional drink was associated with reduced mean birth weight, whereas in 2005-2011, the mean birth weight increased with increasing intake. The period-specific associations between low-to-moderate drinking and birth weight, which also were observed for term SGA, are indicative of bias. It is impossible to distinguish if the bias is attributable to unmeasured confounding, which change over time or cohort heterogeneity.

Exploring the Structural Relationship Between Interviewer and Self-Rated Affective Symptoms in Huntington's Disease.

This study explores the structural relationship between self-report and interview measures of affect in Huntington's disease. The findings suggest continued use of both to recognize the multidimensionality within a single common consideration of distress.

Factor analysis of the hospital anxiety and depression scale among a Huntington's disease population.

INTRODUCTION: Depression and anxiety are common in Huntington's disease, a genetic neurodegenerative disorder. There is a need for measurement tools of mood to be validated within a Huntington's disease population. The current study aimed to analyze the factor structure of the Hospital Anxiety and Depression Scale in Huntington's disease. METHODS: Data from the European Huntington's Disease Network study REGISTRY 3 were used to undertake a factor analysis of the scale among a sample of 492 Huntington's disease mutation carriers. The sample was randomly divided into two equal subsamples and an exploratory factor analysis conducted on the first subsample suggested a two-factor interpretation, using eight of the items. A confirmatory factor analysis was then performed to test six possible models for goodness of fit. RESULTS: A bifactor model, with all items loading onto a general distress factor, with two group factors, comprising four depression and four anxiety items, provided the best fit of the data. The salience of loadings on the bifactor model suggested that loadings were high on the general factor (accounting for 64% of the variance) and low on the group factors (21% for anxiety and 15% for depression). CONCLUSIONS: The findings suggest that eight items from the scale perform well among the sample. Consistent with recent developments in modeling the Hospital Anxiety and Depression Scale, a bifactor interpretation for an eight-item version outperformed other extant models. Our findings provide support for an eight-item version of the scale to be used as a measure of general distress within Huntington's disease populations.

Anxiety in Huntington's Disease.

Anxiety is common in Huntington's disease (HD), though it has been under-researched. The authors conducted a systematic review of anxiety in HD. The prevalence of anxiety in manifest HD ranged from 13% to 71%. No significant difference in anxiety between manifest and premanifest HD carriers was revealed. Anxiety appears to be associated with depression, suicide, irritability, quality of life (QoL), pain, illness beliefs, and coping styles but does not seem to be linked with measures of disease progression. From the few pilot studies available, interventions that show promise include olanzapine and psychosocial approaches. Improved assessment, more exploration of the nature of anxiety in HD, and evaluation of anxiety interventions are required.

Relationship satisfaction among mothers of children with congenital heart defects: a prospective case-cohort study.

OBJECTIVE: To assess the level of partner relationship satisfaction among mothers of children with different severity of congenital heart defects (CHD) compared with mothers in the cohort. METHODS: Mothers of children with mild, moderate, or severe CHD (n = 182) and a cohort of mothers of children without CHD (n = 46,782) from the Norwegian Mother and Child Cohort Study were assessed at 5 time points from pregnancy to 36 months postpartum. A 5-item version of the Relationship Satisfaction scale was used, and relevant covariates were explored. RESULTS: The trajectories of relationship satisfaction among mothers of children with varying CHD severity did not differ from the trajectories in the cohort. All women in the cohort experienced decreasing relationship satisfaction from 18 months after delivery up to 36 months after delivery. CONCLUSIONS: Having a child with CHD, regardless of severity, does not appear to exacerbate the decline in relationship satisfaction.

Well-being in mothers of children with congenital heart defects: a 3-year follow-up.

PURPOSE: This prospective case-cohort study compared subjective well-being (SWB) among mothers whose children had various degrees of congenital heart defects (CHD) with mothers of children without CHD (controls). METHODS: Nationwide CHD registry data were linked to data collected from the Norwegian Mother and Child Cohort Study at gestational week 30, 6 months, and 36 months postpartum. A total of 175 mothers of children with mild, moderate, and severe CHD were identified in a cohort of 44,144 mothers. The SWB index was operationalized by means of three subscales: a cognitive aspect, positive affect, and negative affect. RESULTS: Mothers of children with severe CHD reported significantly lower SWB than the controls at 6 months postpartum (p = .003), with further decrease in SWB at 36 months postpartum (p = .001). SWB levels in the mild and moderate CHD group did not deviate significantly from controls. CONCLUSIONS: The findings suggest a pattern in which all stressors concerning the severely ill child lead to significant deterioration of maternal well-being. Having a child with mild or moderate CHD, which is a less severe and shorter-term stressor, did not reduce mothers' well-being.

Mental health symptoms among those affected by Huntington's disease: A cross-sectional study.

BACKGROUND: Although cognitive and motor symptoms of Huntington's disease (HD) are associated with disease progression, the underlying causes of psychological symptoms are not as clearly understood. Recent evidence suggests that some mental health difficulties experienced by people with HD are shared by noncarriers within HD families. Accordingly, there is a need to evaluate potential systemic contributors to HD mental distress, to support meaningful interventions for psychological symptoms in people with HD and affected families. METHOD: We used short-form Problem Behaviors Assessment mental health symptom data from the international Enroll-HD data set to characterize mental health symptoms across eight HD groups: Stages 1-5, premanifest and genotype-negative individuals, and family controls (n = 8567) using chi-square analysis with post hoc comparisons. RESULTS: We identified that people with later-stage HD (Stages 2-5) had significantly higher apathy, obsessive-compulsiveness, and (from Stage 3) disorientation than the remaining groups at a medium effect size, and that these findings largely held across three measure administrations over time. CONCLUSIONS: These findings highlight the critical symptoms in manifest HD from Stage 2 onward, but also demonstrate that crucial symptoms such as depression, anxiety, and irritability are present across HD-affected groups (including noncarriers of the gene expansion). The outcomes highlight a need for specific clinical management of later-stage HD psychological symptoms, and for systemic support across affected families.

Guided self-help for anxiety among Huntington's disease gene expansion carriers (GUIDE-HD) compared to treatment as usual: a randomised controlled feasibility trial.

BACKGROUND: Huntington's disease (HD) is an adult-onset genetic neurodegenerative condition associated with cognitive decline, motor impairments, and emotional difficulties. Anxiety affects up to 71% of HD gene expansion carriers (i.e., those with the version of the gene that causes HD) and can negatively impact quality of life, worsen other HD symptoms, and increase suicide risk. Therefore, helping people with their anxiety should be a clinical priority. A significant evidence base now exists for low-cost talking therapies for anxiety, such as guided self-help, and with people with other neurodegenerative conditions (e.g., Parkinson's disease). However, this type of intervention has not been specifically assessed with HD gene expansion carriers. METHODS: This protocol describes an exploratory randomised controlled feasibility study of a psychological intervention for anxiety for HD gene expansion carriers. The 10 session guided self-help intervention ('GUIDE-HD') is based on a blend of second and third wave cognitive behavioural models of anxiety (cognitive behaviour therapy [CBT] and acceptance and commitment therapy [ACT]) and is adapted to meet the specific needs of an HD population. This study will compare guided self-help with treatment as usual (TAU), with 15 HD gene expansion carriers randomly allocated to each group. Participants will be recruited across the UK. Quantitative data will be collected pre-intervention, immediately post-intervention, 3-month post-intervention and 6-month post-intervention. Qualitative data will be collected at one month post-intervention from participants, including HD carers. The data will be analysed to assess whether the current intervention and study design are feasible to progress to a larger randomised controlled trial. Feasibility has been defined in terms of recruitment rate, retention rate to both trial arms, intervention adherence, and acceptability of the intervention and measurement tools. DISCUSSION: Given the lack of evidenced interventions to date to support the wellbeing of people with the expanded Huntington's gene, this study will assess the feasibility of progressing this particular intervention to a full trial. To try and increase the acceptability of the intervention, a number of stakeholders, including those affected by HD and in caring roles, have been fundamental to the creation of the intervention (e.g., therapy manual, planned therapy process) to date. TRIAL REGISTRATION: Trial ID: ISRCTN47330596 . Date registered: 28/09/2022. Protocol version and date: Version 2, 09/06/22. Trial sponsor organisation and contact: Leicestershire Partnership NHS Trust (Dave Clarke). Role of sponsor: Overall responsibility for the conduct and governance of the trial. Role of funder: Review of initial research proposal.

Trajectories of maternal mental health: a prospective study of mothers of infants with congenital heart defects from pregnancy to 36 months postpartum.

OBJECTIVE: To chart mothers' trajectories of mental health from pregnancy to 36 months postpartum in order to investigate the association between infants' congenital heart defects (CHD) and compromised maternal mental health. METHODS: Mothers of infants with mild, moderate, or severe CHD (n = 141) and mothers (n = 36,437) enrolled in the Norwegian Mother and Child Cohort Study were assessed at regular intervals from pregnancy up to 36 months postpartum, including measurements at 6 and 18 months, using an 8-item version of the Hopkins Symptom Checklist-25. RESULTS: Mean score trajectories of SCL-8 for mothers of infants with severe CHD deviated significantly from cohort controls 6, 18, and 36 months postpartum, indicating heightened symptoms of depression and anxiety. CONCLUSIONS: Mothers of infants with severe CHD are at risk of compromised mental health from delivery to 36 months postpartum. Strain due to CHD-related interventions is identified as a possible partial mediator of the distress.

Mothers of infants with congenital heart defects: well-being from pregnancy through the child's first six months.

PURPOSE: This study compared the well-being among mothers of children with congenital heart defects (CHD) with mothers of children without CHD (controls), at pregnancy and at 6 months postpartum. METHODS: We linked prospective data from the Norwegian Mother and Child Cohort Study (MoBa), conducted by the Norwegian Institute of Public Health, with a nationwide medical CHD registry. In the MoBa cohort of 61,456 mothers, we identified 212 mothers of infants with mild (n = 92), moderate (n = 50), or severe CHD (n = 70). Subjective well-being was operationalized by means of maternal life satisfaction, joy, and anger at the 30th week of gestation and at 6 months postpartum. RESULTS: Subjective well-being in mothers of children with CHD remained unchanged and similar to that of controls on satisfaction with life (P = 0.120) and feelings of joy (P = 0.065). However, at child age 6 months, mothers of infants with severe CHD reported slightly elevated feelings of anger compared with controls (P = 0.006). CONCLUSIONS: Joy and life satisfaction remained intact among mothers of children with CHD. Yet, elevated feelings of anger in mothers of children with the most severe CHD suggest that they may experience more frustration.

Adjusting to living with Parkinson's disease; a meta-ethnography of qualitative research.

PURPOSE: Parkinson's disease (PD) is a condition which causes significant difficulties in physical, cognitive and psychological domains. It is a progressive condition which people have to live with for a long time; consequently, there is a need to understand what contributes to individual adjustment. This review aimed to answer the question "how do individuals adjust to PD?" METHOD: A systematic search of three databases (MEDLINE, CINAHL and PsycINFO) was carried out of papers documenting the adjustment process when living with PD and the findings were synthesised using a meta-ethnographic approach. RESULTS: After exclusion based on eligibility criteria, 21 articles were included and were assessed for quality prior to analysing the data. Three main themes are proposed relating to the process of adjustment: "maintaining a coherent sense of self", "feeling in control" and "holding a positive mindset". Although many of the studies described challenges of living with PD, the results are dominated by the determination of individuals to self-manage their condition and maintain positive wellbeing. CONCLUSION: The results highlight the need to empower patients to self-manage their illness, mitigating the effects of Parkinson's disease and supporting future wellbeing.IMPLICATIONS FOR REHABILITATIONIndividual identity disruption impacts on the self-value and sense of self coherence in individuals living with Parkinson's disease.Healthcare professionals should appreciate the complexity of the adjustment process which is related to the ability to maintain a coherent sense of self, to feel in control and to hold a positive mindset.Healthcare professionals should ensure information and knowledge related to self-management is tailored to an individual's understanding and experience of the disease.

More than Just a Brain Disorder: A Five-Point Manifesto for Psychological Care for People with Huntington's Disease.

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.

Using a Clinical Formulation to Understand Psychological Distress in People Affected by Huntington's Disease: A Descriptive, Evidence-Based Model.

Huntington's disease (HD) is an inherited, life-limiting neurodegenerative condition. People with HD experience changes in cognitive, motor and emotional functioning, and can also, mainly at later stages, exhibit behaviours that professionals and carers might find distressing such as hitting others, throwing objects, swearing or making inappropriate comments. While clinical formulation (an individualised approach used by mental health professionals to describe an individual's difficulties) is a helpful tool to conceptualise patients' wellbeing, a specific formulation framework has not yet been developed for HD. However, evidence has shown that formulation can help guide clinical interventions and increase consistency of approach across multi-disciplinary teams, refine risk management, and improve staff or carers' empathic skills and understanding of complex presentations. As a consequence, this paper proposes a new clinical formulation model for understanding distress among people with HD, based on a biopsychosocial framework. More specifically, this includes key elements centring on an individual's past experience and personal narratives, as well as anticipatory cognitions and emotions about the future. In-depth discussions regarding the components of the model and their importance in HD formulations are included, and a fictional yet representative case example is presented to illustrate their application within the context of personalised care.

Long-term symptoms of depression and anxiety in mothers of infants with congenital heart defects.

OBJECTIVE: To examine the relationship between the severity of infants' congenital heart defects (CHD) and their mothers' symptoms of depression and anxiety from pregnancy to 18 months postpartum. METHODS: Mothers of infants with mild, moderate, or severe CHD (n=162) and mothers (n=44,400) within the Norwegian Mother and Child Cohort Study were assessed with an eight-item short version (SCL-8) of the Hopkins Symptom Checklist-25 at the 30th week of gestation and at 6 and 18 months postpartum. RESULTS: Only the postpartum mental health trajectory of mothers of infants with severe CHD deviated from the mental health trajectory of the cohort at 6 and 18 months postpartum, showing significantly elevated levels of depression and anxiety symptoms. CONCLUSIONS: The results elucidate the relationship between infants' CHD severity and maternal symptoms of depression and anxiety, possibly identifying a specifically vulnerable patient dyad in need of postoperative interventions.