The experience of a sample of individuals in the United Kingdom living in the pre‐manifest stage of Huntington’s disease: An interpretative phenomenological analysis

Abstract

Huntington's disease (HD) is a progressive neurodegenerative condition which is caused by an expanded CAG (cytosine-adenineguanine) trinucleotide repeat in the gene encoding the huntingtin protein. HD is inherited in an autosomal dominant pattern, meaning a child of a parent with the HD gene expansion has a 50% chance of inheriting the disease. The age of onset differs across individuals, but signs of the condition and clinical diagnosis typically occur around age 30-50 years old (Carlozzi et al., 2016). The expansion number of the CAG repeat shows a very strong negative correlation with age at onset of motor signs, with a larger expansion number leading to earlier onset (Lee et al., 2012), but this is still hugely variable from person to person. Individuals testing positive for the HD gene expansion will almost certainly develop symptoms. Predictive genetic testing has allowed individuals who are at risk of HD (because a family member has been identified as having the HD gene expansion) to find out whether they will develop the disease, prior to showing motor symptoms. If they test positive, they are described as having 'pre-manifest' or 'pre-symptomatic' HD. Although the predictive test has allowed researchers to study the natural course of the disease and provide opportunities for early intervention, there are significant ethical issues regarding the potentially life-changing consequences which living with the test result entails (Lilani, 2005).By offering the predictive test, health services have an ethical and moral responsibility to understand the impact of genetic testing and to support individuals with the long-term consequences (Andersson et al., 2016).

More than Just a Brain Disorder: A Five-Point Manifesto for Psychological Care for People with Huntington’s Disease

“…However, the results of a predictive test only allow confirmation of whether an individual carries the gene expansion and will therefore develop the disease; it does not pinpoint when onset will occur. This understandably turns the experience of predictive genetic testing into a further psychologically challenging aspect of the condition [14][15][16], with a number of reports showing that a positive test result can be associated with negative views about the future characterised by reduced social engagement, decreased long-term life planning, excessive hypervigilance or 'symptom watching', and increased suicidal ideation [17,18]. In turn, this may also explain the very low test uptake figures among at-risk individuals available in the literature (e.g., usually lower than 20% [19,20]).…”

Using a Clinical Formulation to Understand Psychological Distress in People Affected by Huntington’s Disease: A Descriptive, Evidence-Based Model

“…The model is divided into past, present and future (indicated to the left of the diagram)—an approach supported by prior research showing that the passing of time is central to adjustment among people who live with HD [ 39 ]. These temporal components seek to recognise the impact of past experiences and future anticipations on pwHD, and how these might guide us to understand a particular presentation or behaviour occurring in the present.…”

“…These temporal components seek to recognise the impact of past experiences and future anticipations on pwHD, and how these might guide us to understand a particular presentation or behaviour occurring in the present. While past and present experiences are usual features of clinical formulations, our model proposes that future-oriented cognitions and emotions are also crucial in understanding the experience of pwHD [ 39 , 40 ], given the nature of the neurodegenerative process and also the potential of future generations being affected.…”

“…Many worries of individuals are understandable, such as concerns about genetic discrimination, financial worries, concerns regarding future loss of function and impact on family members. In fact, many of these concerns are understandably shared within members of HD families (those with and without the gene expansion) [ 33 , 34 , 39 , 83 , 84 ].…”

Mental health symptoms among those affected by Huntington's disease: A cross‐sectional study

“…For example, both groups typically experience disrupted family dynamics, loss of relatives to HD, and changes to expectations about family roles and the future (Berrios et al., 2002 ; Brouwer‐DudokdeWit et al., 2002 ; Yu et al., 2019 ). There may also be fears about passing on HD to children, worries about care needs, disability and death in the future, and hypervigilance to potential signs of HD progression (Mahmood et al., 2022 ; Tibben et al., 1997 ; Wieringa et al., 2021 ). “Genotype‐negative” individuals who were genetically at risk but have tested negative may also continue to experience distress and intrusive thoughts relating to HD (Tibben et al., 1997 ).…”