Quality of Life in Huntington's Disease: A Comparative Study Investigating the Impact for those with Pre-Manifest and Early Manifest Disease, and their Partners

Read, Joy; Jones, Rebecca; Owen, Gail; Leavitt, Blair R.; Coleman, Allison; Roos, Raymund A.C.; Dumas, Eve M.; Dürr, Alexandra; Justo, Damián; Say, Miranda J.; Stout, Julie C.; Tabrizi, Sarah J.; Craufurd, David; Investigators, Track-Hd

doi:10.3233/jhd-130051

Cited by 46 publications

(67 citation statements)

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“…The TFC was the only factor significantly associated with HRQoL. This finding is in line with previous studies [12, 39, 40]. One possible explanation may be that improving HRQoL through the use of ATC requires more than access to devices.…”

Section: Discussionsupporting

confidence: 91%

“…Cognitive impairment in HD can have a detrimental effect on health-related quality of life (HRQoL) through affecting ability to work and partake in leisure activities, interpersonal relationships, and ability to maintain self-care [10–13]. Two studies on HD have identified impaired cognitive function as the strongest negative determinants of HRQoL [12, 14]…”

Section: Introductionmentioning

confidence: 99%

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Assistive Technology for Cognition and Health-related Quality of Life in Huntington’s Disease

Walsem

Howe

Frich

et al. 2016

JHD

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Background: Assistive technology for cognition (ATC) can be defined as external devices aimed at supporting cognitive function. Studies in neurological populations suggest that use of ATC is a promising strategy to ameliorate negative effects of cognitive impairment and improve Health-related Quality of Life (HRQoL). There is a lack of studies on the effects of ATC in HD.Objective: This study aimed to describe the use of ATC in patients with HD, and to investigate the association between ATC and HRQoL.Methods: A cross-sectional population-based study, including eighty-four patients with a clinical HD diagnosis (stages I–V). Socio-demographic and clinical data were collected, including information regarding various aspects of ATC use and an evaluation of cognitive impairment was performed. The Unified Huntington’s Disease Rating Scale (UHDRS) Total Functional Capacity scale (TFC) and the EQ-5D Visual Analogue Scale were used to evaluate functional ability and HRQoL. Descriptive analyses were conducted to describe ATC use and regression analyses to investigate associations between ATC and HRQoL.Results: Thirty-seven percent of the patients had ATC, and ATC was used most frequently in stages I-III. Information about ATC, needs evaluation and training was provided to 44%, 32.1% and 20.2% respectively. The regression analysis showed a significant association between TFC and HRQoL (β value = –0.564, p = 0.001), but there was no association between ATC and HRQoL.Conclusions: One-third of all patients used ATC, mainly those with mild to moderate cognitive impairment (stage I –III). No association between ATC and HRQoL was found. More research is needed to investigate effects of ATC in HD.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Assistive Technology for Cognition and Health-related Quality of Life in Huntington’s Disease

Walsem

Howe

Frich

et al. 2016

JHD

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“…There is currently no cure or way to stop the progression of HD. Thus, patient care focuses on the management of symptoms and improvement of the quality of life 10, 11, 12, 13. The HD mutation is an obvious target for therapeutic intervention based on gene silencing or genome editing, because it is at the top of all pathological cascades.…”

Section: Introductionmentioning

confidence: 99%

Preclinical Evaluation of a Lentiviral Vector for Huntingtin Silencing

Cambon

Zimmer²,

Martineau

et al. 2017

Molecular Therapy - Methods & Clinical Development

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Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder resulting from a polyglutamine expansion in the huntingtin (HTT) protein. There is currently no cure for this disease, but recent studies suggest that RNAi to downregulate the expression of both normal and mutant HTT is a promising therapeutic approach. We previously developed a small hairpin RNA (shRNA), vectorized in an HIV-1-derived lentiviral vector (LV), that reduced pathology in an HD rodent model. Here, we modified this vector for preclinical development by using a tat-independent third-generation LV (pCCL) backbone and removing the original reporter genes. We demonstrate that this novel vector efficiently downregulated HTT expression in vitro in striatal neurons derived from induced pluripotent stem cells (iPSCs) of HD patients. It reduced two major pathological HD hallmarks while triggering a minimal inflammatory response, up to 6 weeks after injection, when administered by stereotaxic surgery in the striatum of an in vivo rodent HD model. Further assessment of this shRNA vector in vitro showed proper processing by the endogenous silencing machinery, and we analyzed gene expression changes to identify potential off-targets. These preclinical data suggest that this new shRNA vector fulfills primary biosafety and efficiency requirements for further development in the clinic as a cure for HD.

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“…The Apathy Scale (AS) [20] is the only self-rated measure dedicated exclusively to apathy that has been used in HD to date. Other self-rated scales such as the Frontal Systems Behaviour Scale (FrSBe) have been used which contain a separate subscale on apathy [21] but cover the issue in less detail. The AS requires the patient's companion to rate the extent of apathetic symptoms experienced by the patient.…”

Section: Introductionmentioning

confidence: 99%

Rating Apathy in Huntington's Disease: Patients and Companions Agree

Mason

Barker

2015

Journal of Huntington's Disease

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Background: Apathy is a common feature of Huntington's disease (HD), even from early disease. However, patients are believed to lack insight into their own apathy and therefore clinicians and/or companions are relied upon to estimate the extent of a patient's apathy. In addition, the evolution of apathy over time in HD has not been unequivocally established. Objectives: The purpose of this study was to determine whether HD patient's self-rated apathy scores were consistent with the scores given by companions who were also asked to rate the patients apathy. Furthermore, the clinical correlates of apathy and its stability over time were examined for both self-rated and companion-rated scores. Methods: Apathy was measured in a large cross-sectional population of HD patients ranging from early to late stage disease (n = 106) using the Apathy Evaluation Scale; a subgroup of whom were followed longitudinally (n = 62) on average 18.7 (1.2 SD) months later. Comparisons were made between self-rated and companion-rated apathy and the relationship between apathy and motor, cognitive and functional performance was explored. Results: Analysis of the cross-sectional data revealed that self-rated and companion-rated apathy were highly correlated, establishing the validity of using self-rated instead of, or in combination with, companion-rated assessments of apathy in future studies. Both self-rated and companion-rated scores had a relationship with motor and functional impairment, but had a complex relationship with cognition. The results of the longitudinal comparison revealed that apathy did not change over time in this cohort. Conclusions: Apathy can be equally well assessed by either patients or companions and does not change significantly over an 18 month period. These findings have implications in the design of studies looking at treating this important aspect of HD.

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Quality of Life in Huntington's Disease: A Comparative Study Investigating the Impact for those with Pre-Manifest and Early Manifest Disease, and their Partners

Cited by 46 publications

References 0 publications

Assistive Technology for Cognition and Health-related Quality of Life in Huntington’s Disease

Assistive Technology for Cognition and Health-related Quality of Life in Huntington’s Disease

Preclinical Evaluation of a Lentiviral Vector for Huntingtin Silencing

Rating Apathy in Huntington's Disease: Patients and Companions Agree

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