Metacognitive insight into cognitive performance in pre and early-stage Huntington's disease

ABSTRACT Objectives Insight is an important predictor of quality of life in Huntington's disease and other neurodegenerative conditions. However, estimating insight with traditional methods such as questionnaires is challenging and subject to limitations. This study experimentally quantified metacognitive insight into cognitive performance in Huntington's disease gene-carriers. Methods We dissociated perceptual decision-making performance and metacognitive insight into performance in healthy controls (n=29), premanifest (n=19) and early-manifest (n=10) Huntington's disease gene-carriers. Insight was operationalised as the degree to which a participant's confidence in their performance was informative of their actual performance (metacognitive efficiency) and estimated using a computational model (HMeta-d). Results We found that pre and early-manifest Huntington's disease gene-carriers were impaired in making perceptual decisions compared to controls. Gene-carriers required more evidence in favour of the correct choice to achieve similar performance and perceptual impairments were increased in those with manifest disease. Surprisingly, despite marked perceptual impairments, Huntington's disease gene-carriers retained metacognitive insight into their perceptual performance. This was the case after controlling for confounding variables and regardless of disease stage. Conclusion We report for the first time a dissociation between impaired cognition and intact metacognition (trial-by-trial insight) in the early-stages of a neurodegenerative disease. This unexpected finding contrasts with the prevailing assumption that cognitive deficits are associated with impaired insight. Future studies should investigate how intact metacognitive insight could be used by some early Huntington's disease gene-carriers to positively impact their quality of life. Key words: Huntington's disease, decision-making, cognition, insight, metacognition

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Management of Traumatic Ulcerations of Lips in a Case of Huntington’s Disease: A Novel Application of Essix Retainer

The Journal of Indian Orthodontic Society ◽

10.1177/03015742211023469 ◽

2021 ◽

pp. 030157422110234

Author(s):

Mohamed Iqbal J

Keyword(s):

Quality Of Life ◽

Characteristic Feature ◽

Neurodegenerative Disease ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Complete Resolution ◽

Psychiatric Symptoms

Huntington’s disease is a progressive neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Dystonia of muscles is a characteristic feature of this condition. A case of Huntington’s disease, with orofacial dystonia, leading to severe uncontrolled biting of the lips, was referred by the Department of Neurology. Deep traumatic ulcerations were found in both upper and lower lips. A simple Essix retainer was fabricated and inserted, which acted as a barrier for the teeth from injuring the lips. The ulcers showed complete resolution in 3 to 4 weeks. The vacuum-formed retainers resulted in a good fit and resisted removal by the uncontrolled contortions of the orofacial muscles. The Essix retainer can be effectively used in improving the quality of life of patients, with Huntington’s disease, having such dystonia-related injuries to lips.

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Psychometric Properties and Validation of the Polish Version of the 12-Item World Health Organization Disability Assessment Schedule 2.0 in Patients with Huntington’s Disease

Journal of Clinical Medicine ◽

10.3390/jcm10051053 ◽

2021 ◽

Vol 10 (5) ◽

pp. 1053

Author(s):

Agnieszka Ćwirlej-Sozańska ◽

Bernard Sozański ◽

Mateusz Kupczyk ◽

Justyna Leszczak ◽

Andrzej Kwolek ◽

...

Keyword(s):

Quality Of Life ◽

Huntington's Disease ◽

Psychometric Properties ◽

Huntington’S Disease ◽

Scale Score ◽

World Health ◽

Disability Assessment ◽

Whodas 2.0 ◽

Score Reliability

Background: Huntington’s disease is a progressive neurodegenerative disorder that usually manifests in adulthood and is inherited in an autosomal dominant manner. The main aim of the study was to assess the psychometric properties of the 12-item WHO Disability Assessment Schedule (WHODAS) 2.0 in studying the level of disability in people with Huntington’s disease. Method: This is a cross-sectional study that covered 128 people with Huntington’s disease living in Poland. We examined scale score reliability, internal consistency, convergent validity, and known-group validity. The disability and quality of life of people with Huntington’s disease were also assessed. Results: The scale score reliability of the entire tool for the research group was high. The Cronbach’s α test result for the whole scale was 0.97. Cronbach’s α for individual domains ranged from 0.95 to 0.79. Time consistency for the overall result was 0.99 and for particular domains ranged from 0.91 to 0.99, which confirmed that the scale was consistent over time. All of the 12-item WHODAS 2.0 domains negatively correlated with all of the Huntington Quality of Life Instrument (H-QoL-I) domains. All correlation coefficients were statistically significant at the level of p < 0.001. The results obtained in the linear regression model showed that with each subsequent point of decrease in BMI the level of disability increases by an average of 0.83 points on the 12-item WHODAS 2.0 scale. With each subsequent year of the disease, the level of disability increases by an average of 1.39 points. Conclusions: This is the first study assessing disability by means of the WHODAS 2.0 in the HD patient population in Poland, and it is also one of the few studies evaluating the validity of the WHODAS 2.0 scale in assessing the disability of people with HD in accordance with the recommendations of DSM-5 (R). We have confirmed that the 12-item WHODAS 2.0 is an effective tool for assessing disability and changes in functioning among people with Huntington’s disease.

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Validation of the first quality-of-life measurement for patients with Huntington’s disease

International Clinical Psychopharmacology ◽

10.1097/yic.0b013e3283534fa9 ◽

2012 ◽

Vol 27 (4) ◽

pp. 208-214 ◽

Cited By ~ 11

Author(s):

Emilie Clay ◽

Annunziata De Nicola ◽

Julie Dorey ◽

Ferdinando Squitieri ◽

Samuel Aballéa ◽

...

Keyword(s):

Quality Of Life ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Life Measurement ◽

Quality Of Life Measurement

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Co-Design of Social Impact Domains with the Huntington’s Disease Community

Disabilities ◽

10.3390/disabilities1020010 ◽

2021 ◽

Vol 1 (2) ◽

pp. 116-131

Author(s):

Natasha Layton ◽

Natasha Brusco ◽

Tammy Gardner ◽

Libby Callaway

Keyword(s):

Quality Of Life ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Design Process ◽

Social Life ◽

Social Inclusion ◽

Social Impact ◽

Service Providers ◽

The Social

Background: For people living with or affected by Huntington’s Disease (HD) to experience a good quality of life, tailored support is required to meet physical, cognitive-behavioral, psychological, and social support needs. Substantial service and knowledge gaps regarding HD exist across support providers and service systems. Measuring unmet needs and what quality of life looks like is a fundamental step required to determine the social impact of service investment and provision. The objectives of this study were to validate and map a draft set of HD Social Impact Domains (HD-SID) against existing national and international outcome frameworks; and evaluate and finalize the HD-SID set using a co-design approach with people with lived experience of, and expertise in, HD. Methods: This research used a qualitative co-design process, with 39 participants across four stakeholder groups (people who were HD gene-positive, gene-negative family members, academics, peak organizations, and service providers) to: (i) map and verify the social life areas impacted by HD; (ii) undertake a rigorous three-phased, qualitative process to critically evaluate the draft HD-SID; and (iii) seek feedback on and endorsement of the HD-SID through this co-design process, with a final set of HD-SID identified. Results: Endorsed HD-SID comprised risks and safety (including housing stability, and economic sustainability) and social inclusion (including health and symptom management, physical wellbeing, emotional wellbeing, and building resilient relationships). Conclusions: Effective measurement of the impacts and outcomes for people with HD is informed by both extant measures and an understanding of the specific population needs. This qualitative co-design research demonstrates that HD-SID resonate with the HD community.

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Health-related quality of life in Huntington's disease: A comparison of two generic instruments, SF-36 and SIP

Movement Disorders ◽

10.1002/mds.20208 ◽

2004 ◽

Vol 19 (11) ◽

pp. 1341-1348 ◽

Cited By ~ 35

Author(s):

Aileen K. Ho ◽

Anna O.G. Robbins ◽

Stephen J. Walters ◽

Stephen Kaptoge ◽

Barbara J. Sahakian ◽

...

Keyword(s):

Quality Of Life ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Health Related Quality ◽

Sf 36 ◽

Related Quality ◽

Health Related

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Loss of extra-striatal phosphodiesterase 10A expression in early premanifest Huntington's disease gene carriers

Journal of the Neurological Sciences ◽

10.1016/j.jns.2016.07.033 ◽

2016 ◽

Vol 368 ◽

pp. 243-248 ◽

Cited By ~ 20

Author(s):

Heather Wilson ◽

Flavia Niccolini ◽

Salman Haider ◽

Tiago Reis Marques ◽

Gennaro Pagano ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Disease Gene ◽

Gene Carriers ◽

Phosphodiesterase 10A

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Therapeutic management of movement disorders present in Huntington’s Disease: a literature review

10.5327/1516-3180.430 ◽

2021 ◽

Author(s):

Camila Angelo Vidal de Figueiredo ◽

Kaline dos Santos Kishishita Castro ◽

Sílvia Raimunda Costa Leite

Keyword(s):

Quality Of Life ◽

Literature Review ◽

Adverse Effects ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Psychiatric Symptoms ◽

Therapeutic Management ◽

Abnormal Gait ◽

Botulinum Toxin Injections

Background: Huntington’s Disease (HD) is a hereditary neurodegenerative genetic disease with motor, cognitive and behavioral repercussions that interferes in several areas of the patients’ lives. Therefore, to increase the quality of life for patients the therapeutic management of symptoms is necessary. Objective: to elucidate the main forms of treatment that reduces motor disorders present in HD. Methods: an integrative literature review was conducted using scientific articles published between 2016-2020 about this topic found in Pubmed and Google Scholar databases. Results: the chorea treatment in HD can be done using Tetrabenazine, deutetrabenazine or antipsychotics. During a study by the Huntington Study Group (HSG), tetrabenazine proved its efficacy, however, due to several adverse effects, its use was reduced. Thus, deutetrabenazine was created, which consists in a tetrabenazine deuterated version, with a longer half- life and less adverse effects. Studies by the HSG found that besides reducing chorea, it also improves motor function in general in patients. Antipsychotics are used when the patient has behavioral and psychiatric symptoms that prevent him from using the other drugs. The dystonia treatment involves physiotherapy and botulinum toxin injections, which are also used in the bruxism therapy, along with mouth protectors. Abnormal gait and balance problems can be reduced with psychomotor rehabilitation, physiotherapy, and using a walker. Conclusion: the control of HD motor symptoms is an important way to increase patients’ quality of life. Therefore, more studies are necessary to expand the effective therapeutic options.

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