Stigma and irritability among individuals diagnosed with, or at genetic risk of, Huntington’s disease

Literature review

Many individuals with Huntington’s disease (HD) have reported experiences of stigmatisation, yet the extant literature is currently theoretically and methodologically underdeveloped. This scoping review therefore examined the methodological approaches, theoretical conceptualisations of stigma used, and areas of underrepresentation reported. The review identified 3273 studies, of which 32 met inclusion criteria. Selected articles represented qualitative (n = 19; 59% of included studies), quantitative (n = 7; 22%) and mixed-methods (n = 6; 19%) designs. Almost half did not provide theoretical definitions of stigma, and a lack of discussion around conceptualisations of stigma applied to people affected by HD was highlighted. Findings suggested a limited theoretical grounding of stigma in primary research exploring people affected by HD. Limitations and directions for future research were discussed.

Empirical Research Study

Irritability has widely been understood as a neuropsychiatric symptom of Huntington’s disease (HD), however, this construct and its causes have been contested. To improve our understanding of how people living with HD perceive and experience irritability, semi-structured interviews were conducted with 12 gene-positive participants (with or without a diagnosis of HD), analysed via reflexive thematic analysis. Three themes were generated: “Navigating the complex multifactorial causes of irritability”; “The tyranny of irritability”; and “Ongoing efforts to resist irritability”. Findings were discussed in relation to attribution theory, suggesting a biopsychosocial formulation of causal mechanisms. Future research was recommended, including co-design approaches to develop meaningful interventions which scaffold the individual’s capacity to resist negative impacts of irritability.