Predictors of Caregiver Burden in Huntington’s Disease

2021 ◽  
Author(s):  
Danielle C Hergert ◽  
Cynthia R Cimino
Keyword(s):  
Huntington's Disease ◽  
Cognitive Functioning ◽  
Huntington’S Disease ◽  
Caregiver Burden ◽  
Rating Scale ◽  
Age Of Onset ◽  
Executive Dysfunction ◽  
South Florida ◽  
Self Report ◽  
Younger Age

Abstract Objective Huntington’s disease (HD) is a genetic neurodegenerative condition that is characterized by cognitive, motor, and psychiatric dysfunction. The purpose of this study was to explore which disease characteristics influence caregiver burden in HD. Methods Fifty participants with HD and 50 of their caregivers participated in the study at the University of South Florida. Participants were administered a neuropsychological battery, the Unified Huntington’s Disease Rating Scale (UHDRS) motor exam, and the Frontal Systems Behavior Scale (FrSBe) self-report. Caregivers completed the Caregiving Appraisal Scale and the FrSBe family-report. Results There were significant correlations between caregiver burden and caregiver age and sex, UHDRS motor scores, cognitive functioning, and self and caregiver-reported FrSBe scores. The significant variables were entered into a regression model and explained 63.1% of the variance in caregiver burden scores. Caregiver age, cognitive functioning, and caregiver-reported FrSBe scores continued to be significant predictors of caregiver burden, whereas the other variables were no longer significant. Conclusions There were significant relationships between caregiver burden, cognitive functioning, and frontally mediated behaviors, but not motor scores. The results suggest that possible interventions for caregivers may include education to caregivers on how to cope with apathy/executive dysfunction and cognitive decline. Caregiver age was associated with burden, with younger age being associated with increased burden when controlling for symptom severity. This has implications for this population in that HD typically has a younger age of onset than other neurodegenerative diseases and therefore, these caregivers may be particularly at risk for caregiver burden.

Dysphagia characteristics in Huntington’s disease patients: insights from the Fiberoptic Endoscopic Evaluation of Swallowing and the Swallowing Disturbances Questionnaire

CNS Spectrums ◽  
2018 ◽  
Vol 24 (04) ◽  
pp. 413-418 ◽  
Author(s):  
Yael Manor ◽  
Yael Oestreicher-Kedem ◽  
Alona Gad ◽  
Jennifer Zitser ◽  
Achinoam Faust-Socher ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Oropharyngeal Dysphagia ◽  
Case Series ◽  
Solid Food ◽  
Self Report ◽  
Endoscopic Evaluation ◽  
Retrospective Case ◽  
Tertiary Referral Center

BackgroundHuntington’s disease (HD) is a neurodegenerative disease characterized by increasing dysphagia as the disease progresses. Specific characteristics of the HD dysphagia are not well defined.ObjectiveTo characterize the swallowing disturbances of HD patients, to evaluate the feasibility of Fiberoptic Endoscopic Evaluation of Swallowing (FEES) in assessing dysphagia in HD patients, and to discern the relation between FEES findings and patients’ self-report on dysphagia symptoms and swallowing related quality of life (SWAL-QOL).MethodA retrospective case series in a tertiary referral center. All recruited HD patients underwent Bed Side Swallowing Evaluation (BSE), FEES, the Unified Huntington’s Disease Rating Scale (UHDRS), and the Montreal Cognitive Assessment (MoCA). All completed the Swallowing Disturbances Questionnaire (SDQ) and the SWAL-QOL questionnaire.ResultsFourteen HD patients were recruited. All were able to complete the FEES study. The FEES demonstrated delayed swallowing reflex, solid food residues, and pre/post swallowing spillage in most patients (50%, 53.5%, 83.3%, and 87.5%, respectively). The mean SDQ score was 13.2. Significant correlations were found between the SWAL-QOL fear of eating score; the SDQ oral, pharyngeal, and total scores; and the FEES parameters of pureed and solid food bolus flow time. Significant correlations were also found between the total UHDRS score, the volitional cough score, and the SWAL-QOL disease burden score.ConclusionHD patients exhibit prominent unique oropharyngeal dysphagia features that may serve as a marker of disease progression. The FEES and the SDQ are valuable tools for detecting these features in HD patients with swallowing disturbance.

scholarly journals Dietary Intake, Mediterranean Diet Adherence and Caloric Intake in Huntington’s Disease: A Review

Nutrients ◽  
2020 ◽  
Vol 12 (10) ◽  
pp. 2946
Author(s):  
Christiana C. Christodoulou ◽  
Christiana A. Demetriou ◽  
Eleni Zamba-Papanicolaou
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Mediterranean Diet ◽  
Rating Scale ◽  
Age Of Onset ◽  
Caloric Intake ◽  
Diet Adherence ◽  
Mediterranean Diet Adherence ◽  
Disease Rating ◽  
The Mediterranean

Decades of research and experimental studies have investigated Huntington’s disease (HD), a rare neurodegenerative disease. Similarly, several studies have investigated whether high/moderate adherence to the Mediterranean Diet and specific macro and micronutrients can decrease cognitive loss and provide a neuroprotective function to neurons. This review systematically identifies and examines studies that have investigated Mediterranean Diet adherence, micro- and macronutrients, supplementation and caloric intake in people with HD, in order to identify if dietary exposures resulted in improvement of disease symptoms, a delay in age of onset or if they contributed to an earlier age of onset in people with HD. A systematic search of PubMed, Directory of open access journal and HubMed was performed independently by two reviewers using specific search terms criteria for studies. The identified abstracts were screened and the studies were included in the review if they satisfied predetermined inclusion criteria. Reference screening of included studies was also performed. A total of 18 studies were included in the review. A few studies found that patients who had high/moderate adherence to Mediterranean Diet showed a slight improvement in their Unified Huntington’s Disease Rating Scale and Total Functional Capacity. In addition, people with HD who had high Mediterranean Diet adherence showed an improvement in both cognitive and motor scores and had a better quality of life compared to patients who had low Mediterranean Diet adherence. Furthermore, a few studies showed that supplementation with specific nutrients, such as triheaptanoin, L-acetyl-carnitine and creatine, had no beneficial effect on the patients’ Unified Huntington’s Disease Rating Scale score. A few studies suggest that the Mediterranean Diet may confer a motor and cognitive benefit to people with HD. Unfortunately, there was little consistency among study findings. It is important for more research to be conducted to have a better understanding of which dietary exposures are beneficial and may result delaying age of onset or disease progression in people with HD.

scholarly journals Late-onset Huntington’s disease with 40–42 CAG expansion

2019 ◽  
Vol 41 (4) ◽  
pp. 869-876 ◽  
Author(s):  
Elisa Capiluppi ◽  
Luca Romano ◽  
Paola Rebora ◽  
Lorenzo Nanetti ◽  
Anna Castaldo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Neurodegenerative Disorder ◽  
Age Of Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Cag Repeats ◽  
Cag Expansion

Abstract Introduction Huntington’s disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 in the IT-15 gene. There is an inverse correlation between the number of pathological CAG and the age of onset. However, CAG repeats between 40 and 42 showed a wider onset variation. We aimed to investigate potential clinical differences between patients with age at onset ≥ 60 years (late onset-HD) and patients with age at onset between 30 and 59 years (common-onset HD) in a cohort of patients with the same CAG expansions (40–42). Methods A retrospective analysis of 66 HD patients with 40–41–42 CAG expansion was performed. Patients were investigated with the Unified Huntington’s Disease Rating Scale (subitems I–II–III and Total Functional Capacity, Functional Assessment and Stage of Disease). Data were analysed using χ2, Fisher’s test, t test and Pearson’s correlation coefficient. GENMOD analysis and Kaplan-Meier analysis were used to study the disease progression. Results The age of onset ranged from 39 to 59 years in the CO subgroup, whereas the LO subgroup showed an age of onset from 60 to 73 years. No family history was reported in 31% of the late-onset in comparison with 20% in common-onset HD (p = 0.04). No difference emerged in symptoms of onset, in clinical manifestations and in progression of disease between the two groups. Conclusion There were no clinical differences between CO and LO subgroups with 40–42 CAG expansion. There is a need of further studies on environmental as well genetic variables modifying the age at onset.

The Impact of Anosognosia on Clinical and Patient-Reported Assessments of Psychiatric Symptoms in Huntington’s Disease

2020 ◽  
Vol 9 (3) ◽  
pp. 291-302
Author(s):  
David Isaacs ◽  
Jessie S. Gibson ◽  
Jeffrey Stovall ◽  
Daniel O. Claassen
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Discriminant Validity ◽  
Rating Scales ◽  
Rating Scale ◽  
Psychiatric Symptoms ◽  
Self Report ◽  
Depression And Anxiety ◽  
Patient Reported ◽  
The Impact

Background: Psychiatric symptoms are widely prevalent in Huntington’s disease (HD) and exert greater impact on quality of life than motor manifestations. Despite this, psychiatric symptoms are frequently underrecognized and undertreated. Lack of awareness, or anosognosia, has been observed at all stages of HD and may contribute to diminished patient self-reporting of psychiatric symptoms. Objective: We sought to evaluate the impact of anosognosia on performance of commonly used clinical rating scales for psychiatric manifestations of HD. Methods: We recruited 50 HD patients to undergo a formal psychiatrist evaluation, the Problem Behavior Assessment-Short Form (PBA-s), and validated self-report rating scales for depression, anxiety, and anger. Motor impairment, cognitive function, and total functional capacity were assessed as part of clinical exam. Patient awareness of motor, cognitive, emotional, and functional capacities was quantified using the Anosognosia Rating Scale. Convergent validity, discriminant validity, classification accuracy, and anosognosia effect was determined for each psychiatric symptom rating scale. Results: Anosognosia was identified in one-third of patients, and these patients underrated the severity of depression and anxiety when completing self-report instruments. Anosognosia did not clearly influence self-reported anger, but this result may have been confounded by the sub-optimal discriminant validity of anger rating scales. Conclusion: Anosognosia undermines reliability of self-reported depression and anxiety in HD. Self-report rating scales for depression and anxiety may have a role in screening, but results must be corroborated by provider and caregiver input when anosognosia is present. HD clinical trials utilizing patient-reported outcomes as study endpoints should routinely evaluate participants for anosognosia.

scholarly journals Is There a Relation Between Caregiver Burden and Cognitive Dysfunction in Huntington’s Disease?

2020 ◽  
Author(s):  
M. M. Schumacher-Kuiper ◽  
A. M. van Loon ◽  
C. F. W. Peeters ◽  
M. R. Ekkel ◽  
C. M. P. M. Hertogh ◽  
...  
Keyword(s):  
Network Analysis ◽  
Huntington's Disease ◽  
Cognitive Functioning ◽  
Huntington’S Disease ◽  
Caregiver Burden ◽  
Neuropsychiatric Symptoms ◽  
Repeat Length ◽  
Cag Repeat ◽  
Cross Sectional ◽  
Indirect Relationship

Abstract Caring for a family member with Huntington’s disease (HD) can be seriously burdensome. Cognitive and neuropsychiatric symptoms that are part of HD can impact the quality of life of caregivers. Therefore, we investigated the relationship between caregiver burden, cognitive impairment and patient characteristics. A retrospective cross-sectional study was performed on 33 adult HD-outpatient-caregiver dyads. We assessed caregiver burden and cognitive functioning of the included patient on the same day with the MCSI and MoCA respectively. For statistical analysis, we performed a network analysis and used descriptive statistics to describe our study sample. Caregivers scored on average 13.5 out of 26 points on the MCSI. The scores on the MoCA of the HD patients varied from 9 to 30 and was on average 22. Our network analysis demonstrated an indirect relationship between cognitive functioning and caregiver burden, in which CAG repeat length and the time since HD has been diagnosed are the primary mediators. We found a negative association between CAG repeat length and cognitive functioning. Furthermore, a relationship was found between higher caregiver burden and psychotropic drug use. We observed an indirect relationship between cognitive functioning and caregiver burden using network analysis. This analysis produces comprehensible results with the variables of interest. This study sheds new light on the components that make up caregiver burden in HD.

scholarly journals Long-Term Efficacy and Safety of Deutetrabenazine for Chorea in Huntington’s Disease: Results From the ARC-HD Open-label Study

CNS Spectrums ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 164-165
Author(s):  
Samuel Frank ◽  
Claudia M. Testa ◽  
David Stamler ◽  
Elise Kayson ◽  
David Oakes ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Study Drug ◽  
Motor Dysfunction ◽  
Open Label ◽  
Entire Treatment Period ◽  
End Of Treatment ◽  
Pharmaceutical Industries

AbstractBackgroundChorea is a prominent motor dysfunction in Huntington’s disease (HD). Deutetrabenazine, a vesicular monoamine transporter 2 (VMAT2) inhibitor, is FDA-approved for the treatment of chorea in HD. In the pivotal, 12-week First-HD trial, deutetrabenazine treatment reduced the Unified Huntington’s Disease Rating Scale (UHDRS) total maximal chorea (TMC) score versus placebo. ARC-HD, an open-label extension study, evaluated long-term safety and efficacy of deutetrabenazine dosed in a response-driven manner for treatment of HD chorea.MethodsPatients who completed First-HD (Rollover) and patients who converted overnight from a stable dose of tetrabenazine (Switch) were included. Safety was assessed over the entire treatment period; exposure-adjusted incidence rates (EAIRs; adverse events [AEs] per person-year) were calculated. A stable, post-titration time point of 8 weeks was chosen for efficacy analyses.ResultsOf 119 patients enrolled (Rollover, n=82; Switch, n=37), 100 (84%) completed ≥1 year of treatment (mean [SD] follow-up, 119 [48] weeks). End of study EAIRs for patients in the Rollover and Switch cohorts, respectively, were: any AE, 2.6 and 4.3; serious AEs, 0.13 and 0.14; AEs leading to dose suspension, 0.05 and 0.04. Overall, 68% and 73% of patients in Rollover and Switch, respectively, experienced a study drug–related AE. Most common AEs possibly related to study drug were somnolence (17% Rollover; 27% Switch), depression (23%; 19%), anxiety (9%; 11%), insomnia (10%; 8%), and akathisia (9%; 14%). Rates of AEs of interest include suicidality (9%; 3%) and parkinsonism (6%; 11%). In both cohorts, mean UHDRS TMC score and total motor score (TMS) decreased from baseline to Week 8; mean (SD) change in TMC score (units) was –4.4 (3.1) and –2.1 (3.3) and change in TMS was –7.1 (7.3) and –2.4 (8.7) in Rollover and Switch, respectively. While receiving stable dosing from Week 8 to 132 (or end of treatment), patients showed minimal change in TMC score (0.9 [5.0]), but TMS increased compared to Week 8 (9.0 [11.3]). Upon drug withdrawal, there were no remarkable AEs and TMC scores increased 4.4 (3.7) units compared to end of treatment.ConclusionsThe type and severity of AEs observed in long-term deutetrabenazine exposure are consistent with the previous study. Efficacy in reducing chorea persisted over time. There was no unexpected worsening of HD or chorea associated with HD upon deutetrabenazine withdrawal.FundingTeva Pharmaceutical Industries Ltd., Petach Tikva, Israel

scholarly journals Objectively characterizing Huntington’s disease using a novel upper limb dexterity test

2021 ◽  
Author(s):  
Samuel Woodgate ◽  
Philippa Morgan-Jones ◽  
Susanne Clinch ◽  
Cheney Drew ◽  
Rebecca Playle ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Severity ◽  
Convergent Validity ◽  
Rating Scale ◽  
Objective Assessment ◽  
Prognostic Index ◽  
Transfer Task ◽  
Clinical Expertise ◽  
Clinical Scores

Abstract Background The Clinch Token Transfer Test (C3t) is a bi-manual coin transfer task that incorporates cognitive tasks to add complexity. This study explored the concurrent and convergent validity of the C3t as a simple, objective assessment of impairment that is reflective of disease severity in Huntington’s, that is not reliant on clinical expertise for administration. Methods One-hundred-and-five participants presenting with pre-manifest (n = 16) or manifest (TFC-Stage-1 n = 39; TFC-Stage-2 n = 43; TFC-Stage-3 n = 7) Huntington’s disease completed the Unified Huntington’s Disease Rating Scale and the C3t at baseline. Of these, thirty-three were followed up after 12 months. Regression was used to estimate baseline individual and composite clinical scores (including cognitive, motor, and functional ability) using baseline C3t scores. Correlations between C3t and clinical scores were assessed using Spearman’s R and visually inspected in relation to disease severity using scatterplots. Effect size over 12 months provided an indication of longitudinal behaviour of the C3t in relation to clinical measures. Results Baseline C3t scores predicted baseline clinical scores to within 9–13% accuracy, being associated with individual and composite clinical scores. Changes in C3t scores over 12 months were small ($$\Omega$$ Ω ≤ 0.15) and mirrored the change in clinical scores. Conclusion The C3t demonstrates promise as a simple, easy to administer, objective outcome measure capable of predicting impairment that is reflective of Huntington’s disease severity and offers a viable solution to support remote clinical monitoring. It may also offer utility as a screening tool for recruitment to clinical trials given preliminary indications of association with the prognostic index normed for Huntington’s disease.

Age of Onset of Huntington's Disease in Carriers of Reduced Penetrance Alleles

2021 ◽  
Author(s):  
Erin I. McDonnell ◽  
Yuanjia Wang ◽  
Jill Goldman ◽  
Karen Marder
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Age Of Onset ◽  
Reduced Penetrance
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