Alistair M Glidden1, Elizabeth A Luebbe1, Molly J Elson1, Steven B Goldenthal1, Christopher W Snyder1, Christine E Zizzi1, E Ray Dorsey1, Chad R Heatwole2. 1. From the Center for Health + Technology (A.M.G., C.W.S., C.E.Z., E.R.D., C.R.H.) and Department of Neurology (E.A.L., E.R.D., C.R.H.), University of Rochester Medical Center, NY; Emory School of Medicine (M.J.E.), Emory University, Atlanta, GA; and University of Michigan Medical School (S.B.G.), University of Michigan, Ann Arbor. 2. From the Center for Health + Technology (A.M.G., C.W.S., C.E.Z., E.R.D., C.R.H.) and Department of Neurology (E.A.L., E.R.D., C.R.H.), University of Rochester Medical Center, NY; Emory School of Medicine (M.J.E.), Emory University, Atlanta, GA; and University of Michigan Medical School (S.B.G.), University of Michigan, Ann Arbor. chad_heatwole@urmc.rochester.edu.
Abstract
OBJECTIVE: To determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden. METHODS: We performed 40 qualitative interviews (n = 20 with HD, n = 20 caregivers) and analyzed 2,082 quotes regarding the symptomatic burden of HD. We subsequently performed a cross-sectional study with 389 participants (n = 156 with HD [60 of whom were prodromal], n = 233 caregivers) to assess the prevalence and relative importance (scale 0-4) of 216 symptoms and 15 symptomatic themes in HD. Cross-correlation analysis was performed based on sex, disease duration, age, number of CAG repeats, disease burden, Total Functional Capacity score, employment status, disease status, and ambulatory status. RESULTS: The symptomatic themes with the highest prevalence in HD were emotional issues (83.0%), fatigue (82.5%), and difficulty thinking (77.0%). The symptomatic themes with the highest relative importance to participants were difficulty thinking (1.91), impaired sleep or daytime sleepiness (1.90), and emotional issues (1.81). High Total Functional Capacity scores, being employed, and having prodromal HD were associated with a lower prevalence of symptomatic themes. Despite reporting no clinical features of the disease, prodromal individuals demonstrated high rates of emotional issues (71.2%) and fatigue (69.5%). There was concordance between the prevalence of symptoms reported by manifest individuals and caregivers. CONCLUSIONS: Many symptomatic themes affect the lives of those with HD. These themes have a variable level of importance to the HD population and are identified both by those with HD and by their caregivers.
OBJECTIVE: To determine the frequency and relative importance of symptoms experienced by adults with Huntington disease (HD) and to identify factors associated with a higher disease burden. METHODS: We performed 40 qualitative interviews (n = 20 with HD, n = 20 caregivers) and analyzed 2,082 quotes regarding the symptomatic burden of HD. We subsequently performed a cross-sectional study with 389 participants (n = 156 with HD [60 of whom were prodromal], n = 233 caregivers) to assess the prevalence and relative importance (scale 0-4) of 216 symptoms and 15 symptomatic themes in HD. Cross-correlation analysis was performed based on sex, disease duration, age, number of CAG repeats, disease burden, Total Functional Capacity score, employment status, disease status, and ambulatory status. RESULTS: The symptomatic themes with the highest prevalence in HD were emotional issues (83.0%), fatigue (82.5%), and difficulty thinking (77.0%). The symptomatic themes with the highest relative importance to participants were difficulty thinking (1.91), impaired sleep or daytime sleepiness (1.90), and emotional issues (1.81). High Total Functional Capacity scores, being employed, and having prodromal HD were associated with a lower prevalence of symptomatic themes. Despite reporting no clinical features of the disease, prodromal individuals demonstrated high rates of emotional issues (71.2%) and fatigue (69.5%). There was concordance between the prevalence of symptoms reported by manifest individuals and caregivers. CONCLUSIONS: Many symptomatic themes affect the lives of those with HD. These themes have a variable level of importance to the HD population and are identified both by those with HD and by their caregivers.
Authors: Virginija Danylaité Karrenbauer; Robert A Harris; Jinming Han; Violeta Chitu; E Richard Stanley; Zbigniew K Wszolek Journal: Cell Mol Life Sci Date: 2022-04-02 Impact factor: 9.207