Greaves, Caroline Victoria; (2024) Improving Wellbeing in At-Risk Frontotemporal Dementia. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, with around 30% of patients having a strong family history. The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), and microtubule-associated protein tau (MAPT) genes. Many people live with genetic risk of FTD for much of their lives, which comes with numerous uncertainties (e.g., their mutation status, the age at symptom onset and the phenotype they might develop) which make it difficult to plan for the future. Caring for symptomatic loved ones, worry about children and for some, the need for assisted fertility, pose additional challenges and contribute to an emotionally overwhelming experience. Despite this, little research has been done into this experience, resulting in a lack of psychological support available. This thesis aims to further understand the lived experience of being at-risk of fFTD, to develop tailored psychological support for those at-risk, and outline recommendations for genetic testing in FTD. This thesis begins by describing the psychological problems associated with living at-risk, including depression, anxiety and need for psychosocial support. This is built upon using qualitative data to characterise the at-risk lived experience, experience of predictive testing and support needs. This data is then used in the application of the MRC complex intervention development framework, to design an ACT-based psychological intervention using a person-centred approach. Qualitative data surrounding predictive testing experience and a Delphi methodology are used to develop expert and patient perspective recommendations for genetic testing in FTD. Finally, a novel exploratory study investigates the presence of broad autism traits and schizotypy in presymptomatic FTD, and their association with severity. This work provides evidence of increased depression and anxiety in fFTD, and an elevated need for psychosocial support, as well as characterisation of the lived at-risk experience. The development of a tailored psychological intervention and FTD specific genetic testing protocol provides the basis for improved support and predictive testing experience for those at-risk. This will become increasingly relevant as disease modifying therapy trials progress.

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