Palliative care in advanced Huntington's disease: a scoping review.

BACKGROUND: As Huntington's disease (HD) is a progressive disease for which there is no cure yet, patients in the advanced stage of HD may benefit from palliative care. OBJECTIVE: To review the literature focusing on palliative care in advanced stage HD, and the level of evidence. METHODS: Publications between 1993 and October 29th, 2021 from 8 databases (Embase, Web of Science, Cochrane, Emcare, PsycINFO, Academic Search Premier, PMC PubMed Central and Pubmed) were included. The literature was deductively classified based on topics that are part of the definition of palliative care, or as care-related topics that emerged from the literature. Levels of evidence I (high) - V (low) were determined as defined by the Joanna Briggs Institute. RESULTS: Our search resulted in 333 articles, 38 of which were included. The literature covered four domains of palliative care: physical care, psychological care, spiritual care, and social care. Four other topics in the literature were: advance care planning, end-of-life needs assessments, pediatric HD care, and need for health care services. Most literature was underpinned by a low level of evidence, except for the topics on social care (Level III-V), advance care planning (Level II-V) and end-of-life needs assessments (Level II-III). CONCLUSIONS: To deliver adequate palliative care in advanced HD, both general and HD-specific symptoms and problems need to be addressed. As the level of evidence in existing literature is low, further research is essential to improve palliative care and to meet patient's wishes and needs.

Global scales for cognitive screening in Parkinson's disease: Critique and recommendations.

BACKGROUND: Cognitive impairment is a common nonmotor manifestation of Parkinson's disease, with deficits ranging from mild cognitive difficulties in 1 or more of the cognitive domains to severe dementia. The International Parkinson and Movement Disorder Society commissioned the assessment of the clinimetric properties of cognitive rating scales measuring global cognitive performance in PD to make recommendations regarding their use. METHODS: A systematic literature search was conducted to identify the scales used to assess global cognitive performance in PD, and the identified scales were reviewed and rated as "recommended," "recommended with caveats," "suggested," or "listed" by the panel using previously established criteria. RESULTS: A total of 12 cognitive scales were included in this review. Three scales, the Montreal Cognitive Assessment, the Mattis Dementia Rating Scale Second Edition, and the Parkinson's Disease-Cognitive Rating Scale, were classified as "recommended." Two scales were classified as "recommended with caveats": the Mini-Mental Parkinson, because of limited coverage of executive abilities, and the Scales for Outcomes in Parkinson's Disease-Cognition, which has limited data on sensitivity to change. Six other scales were classified as "suggested" and 1 scale as "listed." CONCLUSIONS: Because of the existence of "recommended" scales for assessment of global cognitive performance in PD, this task force suggests that the development of a new scale for this purpose is not needed at this time. However, global cognitive scales are not a substitute for comprehensive neuropsychological testing. © 2017 International Parkinson and Movement Disorder Society.

Subjective insomnia symptoms and sleep duration are not related to hypothalamic-pituitary-adrenal axis activity in older adults.

Insomnia symptoms are highly prevalent in depressed older adults. This study investigates the association between hypothalamic-pituitary-adrenal (HPA) axis activity and symptoms of insomnia, respectively, sleep duration among 294 depressed and 123 non-depressed older adults of the Netherlands Study of Depression in Older people (NESDO) study. Insomnia symptoms were defined as clinically relevant when having a score ≥ 10 points on the Women's Health Initiative Insomnia Rating Scale (WHIIRS). Sleep duration was categorized in short (≤ 6 h per night), normal (7-8 h per night) and long (≥ 9 h per night) duration. Salivary cortisol levels were used to assess the following cortisol parameters for HPA axis activity: area under the curve with respect to the increase (AUCi) and to the ground (AUCg), diurnal slope, evening cortisol level and dexamethasone suppression ratio. Clinically relevant insomnia symptoms were present in 46% of the participants. Thirty-two per cent of the participants were short sleepers, whereas 16% were long sleepers. However, univariate analyses showed no differences in any of the HPA axis parameters between people with and without insomnia symptoms or between the three groups with different sleep duration. In addition, no significant interaction was found between a diagnosis of depression or the severity of depressive symptoms and any of the cortisol parameters in relation to insomnia symptoms or sleep duration.

Huntington's Disease Gene Expansion Carriers Are Aware of Their Degree of Apathy.

Huntington's disease is characterized by motor and behavioral symptoms as well as cognitive decline. Apathy is a common behavioral symptom, and its severity is related to disease progression. It has been suggested that Huntington's disease gene expansion carriers (HDGECs) are unaware of the signs and symptoms of the disease, which may account for their own level of awareness of their apathy. Therefore, the authors investigated the level of agreement on the degree of apathy severity between HDGECs and their proxies by using a self-report questionnaire. A total of 109 REGISTRY participants (premotormanifest, N=31; early motormanifest, N=49; and late motormanifest, N=29) and their proxies completed the Apathy Evaluation Scale. The authors used the Wilcoxon signed-rank test to assess whether gene expansion carriers and their proxies agreed on apathy severity. Scores on the Apathy Evaluation Scale significantly increased from the early motormanifest stage to the late motormanifest stage. Premotormanifest carriers scored themselves significantly higher on the Apathy Evaluation Scale than their proxies, whereas no differences were found between all motormanifest carriers and their proxies. Apathy severity increases in the motormanifest stages of Huntington's disease. HDGECs can adequately assess their level of apathy on a self-report questionnaire. These results also suggest that slight changes in the degree of apathy among premotormanifest gene expansion carriers remain unnoticed by their proxies.

Treatment results for severe psychiatric illness: which method is best suited to denote the outcome of mental health care?

BACKGROUND: The present study investigates the suitability of various treatment outcome indicators to evaluate performance of mental health institutions that provide care to patients with severe mental illness. Several categorical approaches are compared to a reference indicator (continuous outcome) using pretest-posttest data of the Health of Nation Outcome Scales (HoNOS). METHODS: Data from 10 institutions and 3189 patients were used, comprising outcomes of the first year of treatment by teams providing long-term care. RESULTS: Findings revealed differences between continuous indicators (standardized pre-post difference score ES and ΔT) and categorical indicators (SEM, JTRCI, JTCS, JTRCI&CS, JTrevised) on their ranking of institutions, as well as substantial differences among categorical indicators; the outcome according to the traditional JT approach was most concordant with the continuous outcome indicators. CONCLUSIONS: For research comparing group averages, a continuous outcome indicator such as ES or ΔT is preferred, as this best preserves information from the original variable. Categorical outcomes can be used to illustrate what is accomplished in clinical terms. For categorical outcome, the classical Jacobson-Truax approach is preferred over the more complex method of Parabiaghi et al. with eight outcome categories. The latter may be valuable in clinical practice as it allows for a more detailed characterization of individual patients.

Correlates of sleep disturbances in depressed older persons: the Netherlands study of depression in older persons (NESDO).

OBJECTIVES: Sleep disturbances are common among depressed older persons. To gain insight into sleep disturbances in late-life depression, their occurrence and correlates were assessed. METHODS: Baseline data of 294 depressed older persons of the Netherlands Study of Depression in Older persons study were used. A diagnosis of current depression according to the diagnostic and statistical manual of mental disorders-IV (DSM-IV) was assessed with the Composite International Diagnostic Interview. Sleep disturbances were measured with the five-item Women's Health Initiative Insomnia Rating Scale, and considered present with a score of ≥10 points. RESULTS: Sleep disturbances were present in 59.9% of the depressed older persons. Bivariate linear regression analyses showed that presence of sleep disturbances was associated with fewer years of education, use of alcohol, the number of chronic diseases, higher pain intensity scores, use of more benzodiazepines, more anxiety and severity of depressive symptoms. In multivariate analyses, severity of depression appeared to be the only independent correlate. CONCLUSIONS: Sleep disturbances are highly prevalent in patients with late-life depression and independently correlated with the severity of depression. Treatment of depression may result in improvement of sleep disturbances, although cognitive behavioral interventions that focus on both depression and sleep disturbances may also be effective.

Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations.

Behavioral symptoms are an important feature of Huntington's disease and contribute to impairment in quality of life. The Movement Disorder Society commissioned the assessment of the clinimetric properties of rating scales in Huntington's disease to make recommendations regarding their use, following previously used standardized criteria. A systematic literature search was conducted to identify the scales used to assess behavioral symptoms in Huntington's disease. For the purpose of this review, 7 behavioral domains were deemed significant in Huntington's disease: irritability, anxiety, depression, apathy, obsessive-compulsive behaviors, psychosis, and suicidal ideation. We included a total of 27 behavioral rating scales, 19 of which were of a single behavioral domain and the remaining 8 scales included multiple behavioral domains. Three rating scales were classified as "recommended" exclusively for screening purposes: the Irritability Scale for irritability, the Beck Depression Inventory-II, and the Hospital Anxiety and Depression Scale for depression. There were no "recommended" scales for other purposes such as diagnosis, severity, or change in time or to treatment. The main challenges identified for assessment of behavioral symptoms in Huntington's disease are the co-occurrence of multiple behavioral symptoms, the particular features of a behavioral symptom in Huntington's disease, and the need to address stage- and disease-specific features, including cognitive impairment and lack of insight. The committee concluded that there is a need to further validate currently available behavioral rating scales in Huntington's disease to address gaps in scale validation for specific behavioral domains and purpose of use. © 2016 International Parkinson and Movement Disorder Society.

Evaluation of benefit to patients of training mental health professionals in suicide guidelines: cluster randomised trial.

BACKGROUND: Randomised studies examining the effect on patients of training professionals in adherence to suicide guidelines are scarce. AIMS: To assess whether patients benefited from the training of professionals in adherence to suicide guidelines. METHOD: In total 45 psychiatric departments were randomised (Dutch trial register: NTR3092). In the intervention condition, all staff in the departments were trained with an e-learning supported train-the-trainer programme. After the intervention, patients were assessed at admission and at 3-month follow-up. Primary outcome was change in suicide ideation, assessed with the Beck Scale for Suicide Ideation. RESULTS: For the total group of 566 patients with a positive score on the Beck Scale for Suicide Ideation at baseline, intention-to-treat analysis showed no effects of the intervention on patient outcomes at 3-month follow-up. Patients who were suicidal with a DSM-IV diagnosis of depression (n = 154) showed a significant decrease in suicide ideation when treated in the intervention group. Patients in the intervention group more often reported that suicidality was discussed during treatment. CONCLUSIONS: Overall, no effect of our intervention on patients was found. However, we did find a beneficial effect of the training of professionals on patients with depression.

Screening for cognitive dysfunction in Huntington's disease with the clock drawing test.

BACKGROUND: The aim of the study is to investigate the performance of the clock drawing test as a screening tool for cognitive impairment in Huntington's disease (HD) mutation carriers. METHODS: The performance of the clock drawing test was assessed in 65 mutation carriers using the Shulman and the Freund scoring systems. The mini-mental state examination, the Symbol Digit Modalities Test, the Verbal Fluency Test, and the Stroop tests were used as comparisons for the evaluation of cognitive functioning. Correlations of the clock drawing test with various cognitive tests (convergent validity), neuropsychiatric characteristics (divergent validity) and clinical characteristics were analysed using the Spearman's rank correlation coefficient. Receiver-operator characteristic analyses were performed for the clock drawing test against both the mini-mental state examination and against a composite variable for executive cognitive functioning to assess optimal cut-off scores. RESULTS: Inter-rater reliability was high for both the Shulman and Freund scoring systems (ICC = 0.95 and ICC = 0.90 respectively). The clock drawing tests showed moderate to high correlations with the composite variable for executive cognitive functioning (mean ρ = 0.75) and weaker correlations with the mini-mental state examination (mean ρ = 0.62). Mean sensitivity of the clock drawing tests was 0.82 and mean specificity was 0.79, whereas the mean positive predictive value was 0.66 and the mean negative predictive value was 0.87. CONCLUSION: The clock drawing test is a suitable screening instrument for cognitive dysfunction in HD, because it was shown to be accurate, particularly so with respect to executive cognitive functioning, and is easy and quick to use. Copyright © 2016 John Wiley & Sons, Ltd.

Comparing Methods to Denote Treatment Outcome in Clinical Research and Benchmarking Mental Health Care.

Approaches based on continuous indicators (the size of the pre-to-post-test change; effect size or ΔT) and on categorical indicators (Percentage Improvement and the Jacobson-Truax approach to Clinical Significance) are evaluated to determine which has the best methodological and statistical characteristics, and optimal performance, in comparing outcomes of treatment providers. Performance is compared in two datasets from providers using the Brief Symptom Inventory or the Outcome Questionnaire. Concordance of methods and their suitability to rank providers is assessed. Outcome indicators tend to converge and lead to a similar ranking of institutes within each dataset. Statistically and conceptually, continuous outcome indicators are superior to categorical outcomes as change scores have more statistical power and allow for a ranking of providers at first glance. However, the Jacobson-Truax approach can complement the change score approach as it presents outcome information in a clinically meaningful manner. Copyright © 2015 John Wiley & Sons, Ltd. KEY PRACTITIONERS MESSAGES: When comparing various indicators or treatment outcome, statistical considerations designate continuous outcomes, such as the effect size of the pre-post change (effect size or ΔT) as the optimal choice. Expressing outcome in proportions of recovered, changed, unchanged or deteriorated patients has supplementary value, as it is more easily interpreted and appreciated by clinicians, managerial staff and, last but not the least, by patients. If categorical outcomes are used with small datasets, true differences in institutional performance may get obscured due to diminished power to detect differences. With sufficient data, outcome according to continuous and categorical indicators converge and lead to similar rankings of institutes' performance.

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.

Irritability in a Prospective Cohort of Huntington's Disease Mutation Carriers.

A key neuropsychiatric symptom of Huntington's disease, irritability, contributes to a decline in functioning and to great distress in both patients and their caregivers. To identify mutation carriers prone to the development of irritability, this study aimed to investigate the course and temporal relationships between irritability and other neuropsychiatric symptoms. A cohort of 90 mutation carriers was followed for 2 years. Using the Irritability Scale, the incidence of irritability was 23%, whereas irritability persisted in 70% of the mutation carriers with irritability at baseline. An increase in irritability was strongly associated with an increase in apathy.

Reliability and factor structure of the Short Problem Behaviors Assessment for Huntington's disease (PBA-s) in the TRACK-HD and REGISTRY studies.

The authors report the inter-rater reliability and factor structure of the Short Problem Behaviors Assessment (PBA-s), a semistructured interview to measure severity and frequency of behavioral problems in Huntington's disease. Video recordings of 410 PBA-s interviews were rescored by an independent rater, and Cohen's kappa calculated to assess inter-rater reliability. The mean kappa was 0.74 for severity and 0.76 for frequency scores, whereas weighted kappa (allowing scores to differ by 1 point) was 0.94 for severity and 0.92 for frequency scores. The results of factor analysis were consistent with previous studies using other measures. The authors conclude that the PBA-s is a reliable measure.

Do Attachment Style and Emotion Regulation Strategies Indicate Distress in Predictive Testing?

Predictive genetic testing for a neurogenetic disorder evokes strong emotions, and may lead to distress. The aim of this study is to investigate whether attachment style and emotion regulation strategies are associated with distress in persons who present for predictive testing for a neurogenetic disorder, and whether these psychological traits predict distress after receiving test results. Self-report scales were used to assess attachment insecurity (anxiety and avoidance) and maladaptive emotion regulation strategies (self-blame, rumination, catastrophizing) in adults at 50 % risk for Huntington's Disease (HD), Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), and Hereditary Cerebral Hemorrhage With Amyloidosis - Dutch type (HCHWA-D), when they presented for predictive testing. Distress was measured before testing and twice (within 2 months and between 6 and 8 months) after receiving test results. Pearson correlations and linear regression were used to analyze whether attachment style and emotion regulation strategies indicated distress. In 98 persons at risk for HD, CADASIL, or HCHWA-D, attachment anxiety and catastrophizing were associated with distress before predictive testing. Attachment anxiety predicted distress up to 2 months after testing. Clinicians may consider looking for signs of attachment anxiety and catastrophizing in persons who present for predictive testing, to see who may be vulnerable for distress during and after testing.

Neuropsychiatric symptoms in a European Huntington's disease cohort (REGISTRY).

BACKGROUND: The majority of Huntington's disease (HD) mutation carriers experience some psychopathology during their lifetime, varying from irritability to psychosis, but prevalences of particular symptoms vary widely due to diverse study populations in different stages of HD and the use of different assessment methods. METHODS: The study population consisted of 1993 HD mutation carriers from 15 European countries, all participating in the observational REGISTRY study. The behavioural section of the Unified HD Rating Scale was used to examine the prevalence and correlates of five neuropsychiatric features: depression, irritability/aggression, obsessive/compulsive behaviours, apathy and psychosis. RESULTS: Twenty-seven per cent of the participants did not have any neuropsychiatric symptom in the last month. Moderate to severe apathy occurred in 28.1% of the participants, whereas moderate to severe depression was found in 12.7%. Irritable/aggressive symptoms were present in 13.9% of the participants, and 13.2% showed obsessive/compulsive behaviours. Moderate to severe psychotic symptoms were found in only 1.2%. Only 54.9% of all participants with moderate to severe depression used antidepressants, suggesting undertreatment of depression. Obsessive/compulsive behaviours and irritability/aggression were inversely correlated with the Total Functional Capacity score, but with apathy showing the strongest inverse association. CONCLUSIONS: A variety of neuropsychiatric symptoms are highly prevalent in different stages of HD in this European HD population, with apathy as the most frequent symptom. Depression, irritability/aggression and OCBs are prevalent in all stages of HD. Apathy was the key neuropsychiatric symptom occurring most often in advanced HD stages. Due to possible selection of relatively healthy participants, prevalences reported in this study might be an underestimation of prevalence in the entire HD population.

Course of irritability, depression and apathy in Huntington's disease in relation to motor symptoms during a two-year follow-up period.

BACKGROUND: Irritability, depression and apathy are frequently reported neuropsychiatric symptoms of Huntington's disease (HD). OBJECTIVE: This study investigated the course of irritability, depression and apathy in HD during a 2-year follow-up period. METHODS: In 121 HD mutation carriers the presence of irritability, depression and apathy was measured with the Problem Behaviours Assessment (PBA). Multivariate linear regression analysis was performed to assess their relationships with the change of the motor score of the Unified Huntington's Disease Rating Scale (UHDRS-m) in premotor symptomatic (n = 46) and motor symptomatic mutation carriers (n = 75). RESULTS: The median depression score of all participants decreased (p = 0.002), whereas irritability and apathy scores did not change significantly. In the total group of mutation carriers, a borderline significant association was found between an increase in motor symptoms and an increase in irritability (p = 0.05), and a trend was found for the association between an increase in motor symptoms and a decrease in depression (p = 0.06). Only in the at baseline premotor symptomatic mutation carriers was an increase in motor symptoms significantly related to an increase in irritability (p = 0.02). CONCLUSION: An increase in motor symptoms in the at baseline premotor symptomatic mutation carriers is related to an increase in irritability, which may be an early and sensitive marker for disease progression.

Development of the Huntington Support App (HD-eHelp study): a human-centered and co-design approach.

Introduction: eHealth seems promising in addressing challenges in the provision of care for Huntington's disease (HD) across Europe. By harnessing information and communication technologies, eHealth can partially relocate care from specialized centers to the patients' home, thereby increasing the availability and accessibility of specialty care services beyond regional borders. Previous research on eHealth (development) in HD is however limited, especially when it comes to including eHealth services specifically designed together with HD gene expansion carriers (HDGECs) and their partners to fit their needs and expectations. Methods: This article describes the qualitative human-centered design process and first evaluations of the Huntington Support App prototype: a web-app aimed to support the quality of life (QoL) of HDGECs and their partners in Europe. Prospective end-users, i.e., HDGECs, their partners, and healthcare providers (HCPs), from different countries were involved throughout the development process. Through interviews, we captured people's experiences with the disease, quality of life (QoL), and eHealth. We translated their stories into design directions that were further co-designed and subsequently evaluated with the user groups. Results: The resulting prototype centralizes clear and reliable information on the disease, HD-related news and events, as well as direct contact possibilities with HCPs via an online walk-in hour or by scheduling an appointment. The app's prototype was positively received and rated as (very) appealing, pleasant, easy to use and helpful by both HDGECs and partners. Discussion: By involving end-users in every step, we developed a healthcare app that meets relevant needs of individuals affected by HD and therefore may lead to high adoption and retention rates. As a result, the app provides low-threshold access to reliable information and specialized care for HD in Europe. A description of the Huntington Support App as well as implications for further development of the app's prototype are provided.