Development of the Huntington Disease Work Function Scale

Brossman, Bradley G.; Williams, Janet K.; Downing, Nancy R.; Mills, James A.; Paulsen, Jane S.

doi:10.1097/jom.0b013e31825f30ab

Cited by 8 publications

(5 citation statements)

References 48 publications

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“…The SAL network (Seeley et al, 2009), with its rich connections between the anterior insular and limbic system, may be reflective of this observation. Such network abnormalities in prodromal HD may also be associated with deficits in proprioception or awareness of bodily perceptions as well as the inability of persons with prodromal HD to select the most relevant or important aspect of work or social demands (Brossman et al, 2012). Additional studies can determine whether network abnormalities of the putamen and insula may be relevant for those prodromal individuals with apathy that impacts quality of life (Uddin, 2015).…”

Section: Discussionmentioning

confidence: 99%

Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

et al. 2018

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Huntington's disease (HD) is an inherited brain disorder characterized by progressive motor, cognitive, and behavioral dysfunctions. It is caused by abnormally large trinucleotide cytosine-adenine-guanine (CAG) repeat expansions on exon 1 of the Huntingtin gene. CAG repeat length (CAG-RL) inversely correlates with an earlier age of onset. Region-based studies have shown that HD gene mutation carrier (HDgmc) individuals (CAG-RL ≥36) present functional connectivity alterations in subcortical (SC) and default mode networks. In this analysis, we expand on previous HD studies by investigating associations between CAG-RL and connectivity in the whole brain, as well as between CAG-dependent connectivity and motor and cognitive performances. We used group-independent component analysis on resting-state functional magnetic resonance imaging scans of 261 individuals (183 HDgmc and 78 healthy controls) from the PREDICT-HD study, to obtain whole-brain resting state networks (RSNs). Regression analysis was applied within and between RSNs connectivity (functional network connectivity [FNC]) to identify CAG-RL associations. Connectivity within the putamen RSN is negatively correlated with CAG-RL. The FNC between putamen and insula decreases with increasing CAG-RL, and also shows significant associations with motor and cognitive measures. The FNC between calcarine and middle frontal gyri increased with CAG-RL. In contrast, FNC in other visual (VIS) networks declined with increasing CAG-RL. In addition to observed effects in SC areas known to be related to HD, our study identifies a strong presence of alterations in VIS regions less commonly observed in previous reports and provides a step forward in understanding FNC dysfunction in HDgmc.

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Section: Discussionmentioning

confidence: 99%

Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

et al. 2018

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“…Thus, clear changes should be present in the functional scales of the UHDRS, such as the TFC and Functional Assessment, which can be clearly attributed to HD and not some other condition, for the diagnosis of manifest HD. Other assessments may become available in the future, but will have to undergo further development and testing. Symptomatic and disease‐modifying therapy are appropriate in this stage.…”

Section: Proposal For Diagnostic Criteria and Categories Based On Natmentioning

confidence: 99%

Diagnostic criteria for Huntington's disease based on natural history

2014

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Huntington's disease (HD) is currently diagnosed based on the presence of motor signs indicating 99% "diagnostic confidence" for HD. Recent advances in the understanding of HD natural history and neurobiology indicate that disease-related brain changes begin at least 12 to 15 years before the formal diagnosis based on motor onset. Furthermore, subtle motor dysfunction, cognitive changes, and behavioral alterations are often seen before diagnosis made according to the current criteria. As disease-modifying treatments are developed, likely beginning therapy early will be desirable. We therefore suggest that expanded diagnostic criteria for HD should be adapted to better reflect the natural history of the disease, to enable the conduct of clinical trials in premanifest subjects targeting prevention of neurodegeneration, and to facilitate earlier symptomatic treatment. We propose a new set of criteria for HD diagnostic categories in the International Classification of Diseases that reflect our current understanding of HD natural history and pathogenesis. Based on defined criteria, for example, the Diagnostic Confidence Level and the Total Functional Capacity scales of the Unified Huntington's Disease Rating Scale, HD should be divided in the categories "genetically confirmed" with the subcategories "presymptomatic," "prodromal," and "manifest" and "not genetically confirmed" subdivided into "clinically at risk," "clinically prodromal," and "clinically manifest."

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“…The inclusion of the estimated time to onset (based on the CAG-Age Product score) would also be informative. A selfreport work function measure specific for persons with preHD has been created-the HD Work Function measure 40 -which distinguishes differences in work function between people with preHD and comparison participants, but so far has not been used widely in the field and is not included in the Enroll-HD protocol. This could be cross validated with the WPAI-SHP in future studies.…”

Section: Discussionmentioning

confidence: 99%

Predictors of Workplace Disability in a Premanifest Huntington’s Disease Cohort

Goh

You

Perin

et al. 2018

JNP

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Huntington's disease (HD) is an inherited neurodegenerative disease involving motor, cognitive, and psychiatric/behavioral impairments that will eventually affect work role functioning. Few objective data exist regarding predictors of workplace disability in HD. The authors explored the predictors of work impairment and disability in a cross-sectional cohort of 656 employed, premanifest HD (preHD) individuals. In this cohort-the majority of whom were female, urban-dwelling, married/partnered, and working full-time, with minimal cognitive impairment, good function, minimal motor abnormality, and no indication of significant mental health issues-the number of participants who reported that they had missed work due to HD was low (2.4%). However, 12% of the study sample reported experiencing impairment while working due to preHD, 12.2% reported work-related activity impairment due to preHD, and 12.7% reported impairment in their overall work ability. Higher numbers of CAG repeats on the mutant allele and having more motor symptoms were associated with significantly higher odds of experiencing workplace impairment. Importantly, several modifiable factors were also found to predict workplace disability. Specifically, higher levels of anxiety symptoms were associated with significantly higher odds of experiencing workplace impairment. Good mental and physical health served as protective factors, where good physical health was associated with 6% lower odds of experiencing impairment or missing work time and good mental health was associated with of 10%-12% lower. The results provide important new knowledge for the development of future targeted intervention trials to support preHD individuals in maintaining their work roles as long as possible.

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Development of the Huntington Disease Work Function Scale

Cited by 8 publications

References 48 publications

Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

Whole-Brain Connectivity in a Large Study of Huntington's Disease Gene Mutation Carriers and Healthy Controls

Diagnostic criteria for Huntington's disease based on natural history

Predictors of Workplace Disability in a Premanifest Huntington’s Disease Cohort

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