Title

Characterising social cognition and its predictors in individuals with premanifest Huntington’s disease

Author Identifiers

Kate Turner
ORCID: 0000-0001-7712-8983

Date of Award

2021

Degree Type

Thesis

Degree Name

Master of Medical Science by Research

School

School of Medical & Health Sciences

First Advisor

Dr Travis Cruickshank

Second Advisor

Dr Danielle Bartlett

Third Advisor

Dr Clare Eddy

Abstract

Huntington’s disease (HD) is a rare neurodegenerative disease that is characterised by motor, cognitive, and neuropsychiatric disorders. This condition affects 5-8 per 100, 000 people, and the average life expectancy from onset is between 15 to 25 years. Huntington’s disease is caused by an expanded cytosine-adenine-guanine (CAG) repeat sequence in the huntingtin gene. The expanded sequence causes widespread molecular and cellular abnormalities and ensuing neuropathological and clinical changes. In particular there is increasing evidence of social cognitive dysfunction in HD, which is now recognised as a component of cognition according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Deficits have been reported in individuals with HD across four social cognitive domains: theory of mind, social perception, empathy and social behaviour. Social cognitive impairment may cause difficulty in maintaining social relationships, work performance and increased occurrences of socially inappropriate behaviour due to lack of ability to correctly interpret information. To date, no studies have assessed social cognition in its entirety according to the DSM-5, but rather have assessed one or two social cognitive domains. Additionally, social cognition has only been assessed at a group-level as opposed to an individual level and intra-individual variability (dispersion) has not been evaluated. Assessment at the group-level may not provide an accurate depiction of the prevalence and severity of social cognitive impairments and may account for discrepancies in findings of studies. This highlights the importance of assessing social cognitive impairments within and between individuals across the four domains. Furthermore, limited research has investigated the clinical predictors (e.g. mood and sleep) of social cognitive impairments in premanifest HD, which may also explain the discrepancies in findings. This study therefore aims to 1) investigate a novel method for characterising the social cognitive profile of individuals with premanifest HD, 2) evaluate the intra-individual variability (dispersion) between social cognitive domains in individuals with premanifest HD compared to healthy controls and 3) evaluate the clinical predictors of social cognitive function in premanifest HD. The findings from this research may assist in providing more thorough understanding of social cognitive impairment in individuals with premanifest HD. With this, the development of targeted treatment interventions may be established to address specific areas of deficits not just for the premanifest HD cohort, but also to identify and manage individual-specific impairments.

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