Emotional issues, fatigue, and difficulties in thinking represent common symptomatic themes in patients with Huntington disease (HD), according to a study published in Neurology.

Patients with manifest HD and prodromal HD (n=20), as well as caregivers of patients with HD (n=20) were included in this international cross-sectional survey study. Researchers conducted qualitative interviews that asked participants about symptoms of HD that had the greatest impact on their lives. Patterns in responses were recorded to identify relevant symptoms across the population. A cross-sectional study was also performed with 156 patients with HD and 233 caregivers. In this study, the researchers examined both the prevalence and importance of 216 symptoms and 15 symptomatic themes in the disease.

Symptomatic themes in this study were defined as concepts that represented a group of like symptoms. In study participants with HD, the most prevalent symptomatic themes included emotional issues (83.0%), fatigue (82.5%), and difficulty thinking (77.0%). As assessed by the average life impact scores, the symptomatic themes associated with the highest relative importance to patients with and caregivers of HD included difficulty thinking (1.91), impaired sleep or daytime sleepiness (1.90), and emotional issues (1.81).

Conversely, the researchers observed a lower prevalence of symptomatic themes in patients who were employed, had High Total Functional Capacity scores, and had prodromal HD. Patients with HD had relatively high rates of emotional issues (71.2%) and fatigue (69.5%), despite these patients having no clinical features of HD.


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Patients with manifest HD and caregivers of patients with HD did not participate in the survey as matched pairs, which represents a potential limitation of the study. Another limitation of the study was the self-reported nature of the Total Functional Capacity score and the lack of external validation by a clinician.

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The researchers concluded that the knowledge gained of these symptoms is “relevant for those in the process of developing experimental therapeutics for those with HD and for those who wish to better explore the symptomatic burden of this population.”

Disclosure: Several study authors declared affiliations with the pharmaceutical industry. Please see the original reference for a full list of authors’ disclosures.

Reference

Glidden AM, Luebbe EA, Elson MJ, et al. Patient-reported impact of symptoms in Huntington disease: PRISM-HD [published online March 19, 2020]. Neurology. doi: 10.1212/WNL.0000000000008906

This article originally appeared on Neurology Advisor