Perceptions of the Impact of Chorea on Health-related Quality of Life in Huntington disease (HD): A Qualitative Analysis of Individuals Across the HD Spectrum, Family Members, and Clinicians

Abstract

Background:

Chorea, a hallmark symptom of Huntington’s disease (HD), is characterized by jerky involuntary movements affecting the whole body that can interfere with daily functioning and impact health-related quality of life (HRQOL).

Objective:

To characterize chorea’s impact on everyday functioning and HRQOL and identify patterns of perception and experiences of chorea among patients, caregivers, and providers.

Methods:

Data from focus groups of individuals with manifest HD (n=8 early-stage HD; n=16 late-stage HD), individuals at-risk or prodromal HD (n=16), family HD caregivers (n=17), and HD clinicians (n=25). Focus group recordings were transcribed verbatim and analyzed via constant comparison to identify meaningful and salient themes of living with chorea.

Results:

Global themes of chorea’s impact identified included: watching for chorea, experiences of stigma, and constraints on independence and relationships. Themes distinct to specific respondent groups included: Vigilance (at- risk, prodromal); adaptation to chorea (early-stage); loss of autonomy and social life (late-stage); monitoring engagement (family caregivers) and safety (clinical providers).

Conclusions:

Living with chorea significantly constrains daily functioning, interactions, and HRQOL across the HD disease spectrum. Addressing these impacts via appropriate management of chorea can potentially enhance functioning, HRQOL, and overall satisfaction for persons with HD and their families.

Introduction

Huntington disease (HD) is an autosomal dominant neurodegenerative disease that is characterized by motor, cognitive and behavioral deficits. Given the insidious and progressive nature of HD symptoms and associated functional impairments, it is not surprising that this progressive decline and associated symptoms can have a profound impact on health-related quality of life (HRQOL; i.e., mental, social, and physical well-being¹).^2–19 For example, chorea, the hallmark symptom of HD, can have a profound impact on both physical l (e.g., injuries and falls^20,21) and social well-being (e.g., chorea is often stigmatizing as they are commonly mistaken for drunkenness²²).

Despite its association with HRQOL, and the fact that chorea is the only HD symptom that is readily treatable with FDA-approved treatments^23–35 (i.e., tetrabenazine^{31–33,36–46} and deutetrabenazine^23,24,35), a substantial number of individuals with HD neglect to get treatment for their chorea. While non-treatment may be due, in part, to side effects (especially for tetrabenazine),^{21,31,36,38,47,48} it is equally plausible that the treatment of chorea may be overlooked because other symptoms are considered more distressing.³⁴ Other probable causes for oversight of addressing chorea specifically include disconnects between chorea and associated functional limitations³⁵ or conflicting perceptions about chorea (for persons with HD, their family members, doctors and other clinical providers).³⁶ Additionally, poor communication between persons with HD⁴⁹ and caregivers or clinical providers,⁵⁰ as well as avoidance or denial of symptoms⁵¹ may preclude the treatment of chorea in these individuals. Thus, this paper focused on elucidating the relationships between chorea and HRQOL and on examining patient, family member, and provider perspectives of these relationships.

Specifically, while previous research has examined and ranked content frequencies of a priori categories of HRQOL in HD³⁶, this paper uses traditional qualitative methods on focus group data of HD patients, caregivers, and clinicians, to present salient themes regarding chorea specifically in their experiences of living with HD. Focus groups offer a validated and well-established method for eliciting rich discussion of issues. It is often the case that discussion of the focal phenomenon is stimulated and expanded by group input, thereby evoking data that might otherwise remain unspoken or obscured. Moreover, focus groups promote access and participation among a relatively large number of participants, thus optimizing time and other resources. For this study, the focus group format provided a shared forum for persons at various stages of HD to openly describe their lived experience of HD generally, and chorea specifically. Thus, the purpose of the proposed analysis was to better understand how individuals at-risk for HD (those with a parent with HD, but no positive gene test themselves), those with prodromal HD (those with a positive gene test, but no clinical diagnosis of HD), individuals with HD (early- or late-stage), informal (i.e., family) identify and characterize specifically living with HD symptoms, such as chorea, impacts their functioning and HRQOL. Additionally, caregivers, and professional clinical providers were asked to discuss chorea and its impacts on their family members or patients.

Methods

A total of sixteen focus groups were conducted with individuals with HD, family caregivers, and HD clinicians. Six group were comprised of clinically diagnosed persons with symptoms across the HD spectrum (n=24). Five groups included participants (n=16) who are at-risk (i.e., have a parent with HD diagnosis but have not been tested themselves) or prodromal for HD (i.e., had a positive gene test, but no current clinical symptoms). Groups were held at various locations across New Jersey and New York (nursing homes with specialized treatment centers for HD and a rehabilitation hospital), as well as in conjunction with an academic HD Center of Excellence in Iowa. An additional three groups included non-clinical HD caregivers (n = 17) and two groups included HD clinicians with at least three years of experience working with HD (n=25). All participants were 18 years old or older, able to read and understand English, and had the ability to provide informed consent. Data collection was done in accordance with the local institutional review board and participants were required to provide written informed consent prior to the engagement in study activities.

Additional detail with regard to this study protocol are provided elsewhere.¹¹ Briefly, focus group data were collected to examine the concept of HRQOL among persons with HD, as well as family caregivers and clinical providers with this intention of providing the framework for a new patient-reported outcome measurement system of HRQOL that was specific to persons with HD.^52–56 This study followed established standards for new measurement development⁵⁷ and employed an established qualitative analysis approach that employs frequency analysis to qualitative focus group data from patients across the disease spectrum.⁵⁸ Specifically, focus group methodology was selected: 1) due to concordance with established measurement development standards;⁵⁸ 2) for its participatory action emphasis;^59,60 and 3) due to the efficiency of this data collection approach.⁶¹

On average four individuals with HD participated in each 90-minute focus group (range =2 to 6 individuals per group); group sizes were selected to be consistent with other measurement development focus group studies in other clinical populations.^62–64 Groups were moderated by one PhD-level clinical psychologist (NEC) and co-moderated by master’s level medical student; the primary facilitator had clinical expertise in HD and measurement development but was not a part of the clinical provider team for any of the study participants. In addition, a member of the study team was present at each session to observe and take notes. Focus group sessions began with broad, open-ended questions, which allowed participants to express what the term “HRQOL” meant to them, and to discuss what they perceived to be the most important aspects of their HRQOL. All focus groups were ~90 minutes in duration. Focus group discussions were recorded, transcribed verbatim, and de-identified.

Data Coding and Analysis.

Focus group transcriptions were analyzed using QSR International’s NVivo 11.⁶⁵ A thematic content analysis was conducted.^38–42 Open coding was used to identify concepts using a grounded theory approach.^66–68 Initially, each of the transcripts was reviewed by at least two different individuals (CWS and AA) who independently identified different concepts and remained blinded to the results until after an initial review of each of the transcripts was completed. These coders then met to discuss themes and reconcile discrepancies between themes and observations. Following these initial ratings, two additional raters were introduced. These coders were also blinded to the initial results to ensure that there was consensus about the overall face validity of the thematic structure. Again, the coders met to discuss themes and reconcile discrepancies between categories and themes. Once agreement was achieved, supporting quotes from each transcript were selected to demonstrate each theme.

Next, a matrix analysis^69,70 was conducted to facilitate the examination of how each participant type (symptomatic HD, at-risk/prodromal HD, non-clinical caregiver, and HD clinicians) intersected with each code. Dyads of coders examined the matrix analysis for each theme, with the following goals: 1) explore higher-order meta-themes that describe how codes relate to each other, 2) synthesize the overarching concept for each code, 3) describe commonalities and differences between each group’s experiences, and 4) identify exemplary quotes to illustrate the conclusions of the matrix analysis. A researchers’ journal or “audit” was maintained to document the data analysis process.^70,71

Themes salient across all participating groups are represented as “global” findings, while the distinct chorea experiences of the various subgroups are presented as respondent-specific findings. Multiple exemplar quotes reflecting participants’ experiences are provided to illustrate each theme in participants’ own words. These quotes allow for a fuller appreciation and understanding of the overarching and stage or role specific experiences of living with chorea. Pseudonyms and identification codes depict representation across and within groups.

Results

Sample

A total of 40 individuals participated in this study, including those who were at-risk for or had prodromal or manifest HD (n = 24 individuals with manifest HD and n =16 individuals that were at-risk for or had prodromal HD), as well as n=17 non-clinical HD caregivers and n = 25 and HD clinicians. One person (with early-HD) was excluded based on compromised cognition. Table 1 provides descriptive data for the different HD groups. With regard to non-clinical caregivers, 53% were spouses of an individual with HD, 23% were children, 12% were siblings, and there was one close friend and one parent of someone with HD. The HD clinical providers included physicians (24%), nurses (16%), certified nursing assistants (16%), psychologists or neuropsychologists (8%), social workers (8%), physical therapists (8%), recreational therapists (8%), speech therapists (8%), and one dietician.

Table 1:

Demographic data for Huntington disease participants

Variable	At-Risk/Prodromal (n=15)	Early-HD (n=8)	Late-HD (n=16)	Full HD sample (N=39)
Age(Years)
M (SD)	39.13 (12.17)	49.63 (8.72)	50.19 (12.90)	44.68 (12.06)
Sex
Female	93.33	62.5	43.75	61.5
Ethnicity
Hispanic or Latino	0	0	12.5	5.1
Race (%)
Caucasian	100	100	81.25	90
African American	0	0	6.25	5
Asian	0	0	6.25	2.5
Other	0	0	6.25	2.5
Education Completed
Less than High School			6.25	2.56
High School/GED			18.75	7.69
Some College	40	50	12.5	30.77
Associate’s/Professional degree	13.33	1.25	6.25	10.26
Bachelor’s degree	20	3.75	43.75	33.33
Master’s degree	20	0	12.5	12.82
Doctorate	6.67	0	0	2.56
Marital Status
Married/Cohabitating	80	75	43.75	64.10
Single	6.67	25	6.25	10.26
Divorced	13.33	0	50	25.64
Employment Status
Part-time	33.33	12.5	0	15.38
Full-time	66.67	0	0	25.64
Unemployed	0	87.5	100	58.97
Time Since Onset (months)
M (SD)	N/A	48.75 (27.30)	86.73 (76.75)	73.52 (65.79)*

Note. Entries in the table represent percentage of participants unless otherwise specified;

^*= calculated for the combined manifest HD sample (early- and late-stage only).

Global Themes: Living with Chorea

Chorea is a hallmark feature of HD, and several themes regarding living with chorea emerged across all focus groups, thus highlighting the primacy and impact of chorea on all affected by this disease. These themes reflected participants’ lived experiences of: a) maintaining watchfulness for onset and progression of chorea; b) stigma of chorea; and c) the constraining effects of chorea on personal independence and relationships. Each theme is represented via illustrative quotes of participants from across the focus groups and the disease spectrum.

Watching for chorea.

Participants across the groups described a preoccupation and attuned observation for any signs of onset and/or progression of chorea. Given the hereditability of HD, participants often acknowledged that their experience of watchfulness was shaped by family experiences and history of HD. Thus, they shared their experiences of observing others, which then translated into self-observation and/or an anticipation of symptoms. For example, Bette, one at-risk woman, described her watchfulness of any symptoms in herself, given how “weird (it had been) to watch (chorea) moving in” in her mother’s case of HD (3_Female 1). For Anne, a prodromal participant, described her watchfulness for any sign of chorea as a kind of ongoing self assessment:

I’m dropping things… I’m like, “is this ok? Is this a symptom of HD? My hands hurt, my handwriting seems to have changed. All these things could be symptoms – but they could not be. They could be just anything. (4_Female 3).

Similarly, Bob, who was in the early-stage HD at the time of the focus groups, described his own watchfulness. As he put it, “I’m noticing movements, you know, anything that can’t be chalked up to a normal twitch. I mean, I know it’s not (normal)” (7_Male 2). And for Ed, a man in late-stage HD, chorea was awaited and its onset was expected, “I kind of figured it was coming. It wasn’t a shock” (10_Male 3). Caregivers also reflected on their watchfulness for even subtle signs of chorea in their family member. They also noted how their anticipation and observation for chorea was prompted by the particular attunement that comes with a familial hereditary disease. Mark, another caregiver noted, “the gait, twitches…Some things we don’t really even notice unless you know that someone else (in the family) had it” (12_Male 2).

Stigma of chorea.

The stigma associated with chorea was also evident as a shared and prominent theme among participants. While members of the at-risk group described concerns over the potential for stigma regarding the disease, caregivers and those with more advanced HD described experiencing stigma due to their chorea. For example, a member of the at-risk focus group, Lisa, shared her fears of being confronted with stigma due to chorea:

It’s just the idea that you don’t want people feeling sorry for you. You don’t want people ostracizing you because of it…feeling fearful of maybe losing a job or that kind of thing. (2_Female 1).

Similarly, a prodromal participant, Debbie, named her fear of stigma explicitly. As she put it, “I don’t wanna be judged…I feel it’s a personal, like I do sometimes feel there is a stigma” (5_Female 3). This sentiment was echoed by another prodromal participant, Eve, who also described her fear of stigma and negative notice. As Eve shared, “I used to worry…I’d say ‘do I look okay? Am I moving?’ I’m concerned about the movements because they upset people” (4_Female 2).

Participants with manifest HD describe their experiences of stigma regarding chorea. Gina, a woman in mid-stage HD shared, “I even forget I have (chorea), until I start and half the time people just assume I’m drunk” (7_Female 1). Dave, a late-stage participant, shared his experience of similarly stigmatizing misinterpretations of his chorea:

They always thought that I was drinking… Eleven years of pee tests, every cop, every person in the town that I came from thought I was a drunk. You know how that ended? Me becoming a drunk (9_Male 3).

Caregivers and clinicians also noted the effect of stigma of chorea. Much like Dave’s experience noted above, Amy described how her sister encountered the stigma of chorea within a medical setting:

My sister was in an emergency room. The aide asked her ‘Are you drunk? Because we’ll have to help you undress if you’re drunk.’ I was just behind her… My sister said, ‘Could you believe they asked me if I was drunk?’ When she said ‘no, I have HD,’ (the aide) did not help (13_Female 1).

The discussions of stigma, and how HD symptoms, notably chorea, aroused suspicion and stigma in others, were especially poignant, and illuminated how sense of self and HRQOL can be shaped and affected by a world that does not understand the meanings and effects of HD.

Chorea constraining independence and social life.

Participants across all focus groups described the constraining impacts of chorea. Specifically, participants described the various ways the physical effects of chorea challenged and constrained their personal autonomy. For example, Donna, an early-stage participant, explained how chorea was limiting her life:

I lost my [driver’s] license this Autumn. (Before) I could just pop in my car and it would be ok, but now I have to depend on people, where I’m not used to that. It’s been tough. (7_Female 1)

Moreover, constraints associated with chorea constrained social and intimate relationships for persons with HD, according to focus group participants across the disease spectrum. For example, Gary, an at-risk participant described how HD and chorea limited his chances at intimate relationships:

I would talk about the illness, and people can’t handle it. I’ve had a relationship that ended because people can’t, you know, couldn’t deal with it (2_Male 1).

Similarly, Cindy, an early stage participant, described barriers to maintaining relationships. As she put it, “it’s hard to find someone who wants to put up with all the movements, falls, and the way you talk” (8_Female 1). Another early stage member, Ben, echoed these concerns:

I don’t have a real relationship right now because it (chorea) looks worse than it is. People think you’re in chronic pain or suffering the whole time. They’re not used to those type of movements (8_Male 1).

Family caregivers described how providing support and oversight of their family members’ daily activities due to onset of chorea served to constrain their relative’s autonomy. Mary described this shift when she offered, “it’s getting to a point [he] can’t be alone” (13_Female 6). Another caregiver, Liz, echoed this dynamic when she shared how her brother required more help to manage his daily tasks. As she recalled, “he made me come up and sit there with him to hand him (his) tools, because he kept dropping them” (14_Female 5).

Caregivers and professional providers also described the influence of chorea on limiting social interactions for persons with HD. As explained by one caregiver, “even if there are a lot of activities here, they don’t want to be a part of it”, while a provider noted, “they can’t get out a response fast enough to keep up a normal conversation, so people kind of cut them out of that, and they end up kind of hanging back and just not participating” (16_Female 5). Robin, a provider, identified the effect of chorea on interpersonal interaction. As she had observed, “we see a lot of patients who become very isolated, you know, and sort of burn bridges with everybody around them” (16_Female 4).

Taken together, these global themes provide special insight into the personal, familial, and social impacts and consequences of chorea. While the physical effects of chorea are most familiar, the findings suggest that the interpersonal effects may be equally potent and impactful.

Group-Specific Themes of Living with Chorea

Extending beyond the global themes of living with chorea evident across all respondent groups, it is important to consider the distinct themes that emerged within each specific respondent group (i.e., at-risk/prodromal, early-HD, late-HD, caregivers, and providers). These themes are presented below.

At-risk and prodromal HD: Vigilance.

Beyond the more generalized global theme of watchfulness, individuals in the at-risk and prodromal HD groups expressed a particular vigilance regarding when and if HD and chorea would occur. Vigilance is defined as the action or state of keeping careful watch for possible danger. Thus, while it was still unclear whether or not they will face HD, members of this group experience a distinct sense of underlying yet omnipresent alertness to any potential warning sign. As Lisa, an at risk participant, put it:

There is that constant in the back of your head…It’s all the little things, you know, you’re always suspecting. You tripped, but is that onset? Is it related to HD or was there something on the floor I didn’t notice? (2_Female 1).

Other at-risk participants noted a similar cautious alertness regarding HD and chorea. Karen, one of the at risk group members felt the need for vigilance when she explained, “(HD) goes on and on for years and it’s constantly changing. Which makes it hard, ‘cause you’re constantly having to adjust to it. It’s a moving target” (1_Female 1). Marsha, a prodromal participant, described her need for vigilance even at a pre-symtomatic stage:

You no longer have a sense of just goin’ through life where a trip (stumble) is a trip, a bad day is a bad day. It’s a possibility that this is the end…. I’m fine right now. I really feel very positive and lucky, but when I start to show, check with me then (5_Female 1).

This theme illustrates that well before onset, the risk and potential role of chorea and HD exerts a clear and potentially defining role on how these participants perceived themselves and their potential engagement in other domains of life.

Early-stage HD: Active adaptation to chorea.

The most salient theme emerging from discussions among early-HD participants was their intentional need to accept and adapt to the increasing demands of chorea and HD. Naturally, such active adaptation included physical modifications. For example, Sally, a woman with early stage HD, described her efforts to adapt this way:

My Dad and uncles all had HD so I knew my chance was pretty strong… Now, I have problems walking…So, I take it easy going down the stairs, always cautious to hold the railing… so, its things that I do differently because, you know, I notice a lot of things that are changing (6_Female 1).

Similarly, other participants described an array of adaptive strategies to cope with the onset of chorea, including their need to plan better, allotting extra time to manage daily activities, exercise, and volunteering. As Ben, an early HD participant, explained, “You’ve gotta have obsessive-compulsive techniques to get anything done” (8_Male 1). Bob described his approach when he shared, “I always refer to that episode of M*A*S*H* when the surgeon said, ‘I do one thing at a time, I do it well, and then I move on’” (7_Male 2). Elaine, along with other early-stage participants, asserted that regular exercise offered a meaningful way to adapt to and manage chorea:

I started going to the gym, and that had a very big impact in terms of my balance and some other things…it made a big difference (6_Female 2).

Participation in charity work, especially for HD research organizations, was a meaningful adaptive strategy evident among members of the early stage groups. For example, Brian mentioned his involvement stating, “I’m trying to get more involved early so that, you know, I can take advantage of the research and the help that’s out there (7_Male 1). Similarly, Cindy found volunteering a valuable way to recognize the HD experience. Volunteering also allowed her to view her own early disease stage from a broader perspective. Cindy shared her experience:

I deliver Christmas gifts every year to the HD patients up at the local geriatric center, and that gives me a positive aspect, seeing other people who are a lot worse than me in the nursing home (8_Female 1).

This theme captures how persons with early stage HD take active steps to adapt to the onset of disease and manage the progression of their symptoms. The process of adaptation, as expressed by the early stage members, was not only physical, but clearly included intentional attitudinal and behavioral commitments reflecting larger personal values and communal interests.

Late-stage HD: Diminished autonomy.

Although discussion was more limited among the late-stage focus group members, a shared theme of chorea and diminished autonomy in daily life emerged among these participants. In contrast to those at earlier stages of HD, late-stage participants described successive losses of driving, employment, travel, as well as their need to be assisted with activities of daily living. Penny described how she now needed help, “getting dressed especially, to make sure your clothes are on the right way (10_Female 1). Many late stage members described loss of driving, even accidents, due to chorea. Another member, Joe, offered, “I stopped (driving) because my legs kept shaking … I couldn’t control the gas pedal” (11_Male 2). Generally, members of the late stage groups described how their lives were now smaller and more dependent due to chorea. Dave expressed a general frustration over limitations caused by chorea:

I used to have a life before this…I don’t even want to be here (nursing home), but I have to be here because my parents are worried that I may break a hip. I can’t go back to work…I’d rather be outside, walking around town, going to work and stuff (9_Male 3).

The shared sense of loss and frustration with their lost autonomy due to chorea was palpable. Highlighting this aspect of their experience contributes to our understanding how daily life is impacted by chorea by persons with late stage HD.

Caregivers: Monitoring to support continued engagement.

Family HD caregivers detailed the variety of changes in their relatives due to chorea, including difficulties with balance, gait, movements, and weight loss. Caregivers specifically described how they observed and monitored their relative’s chorea in order to support continued physical and social engagement. At the same time, caregivers sought to underplay, or at least normalize, this aspect of their caregiving role. As one caregiver, Scott, shared:

You try to keep them in the loop as long as they can physically, you know… Try to keep things as normal as possible. When they can’t stand on their own, or what have you, you have to make adjustments (12_Male 2).

Similarly, other caregivers emphasized how helping their family member to continue activity, including exercise and physical therapy, was a part of regular life. For example, Steve asserted, “it’s important to keep moving… if you don’t use it, you lose it! That’s no different from any of us” (12_Male1). Other caregivers highlighted the goal to monitor and support their relative’s social interaction. Sue described efforts in this regard:

Socially, give them their new environment and a new world again, and if they are a sociable person, if there were involved before, they will find a way (13_Female 1).

Overall, caregivers saw that the impacts of chorea required their role of monitoring to ensure their relatives’ active engagement. This was seen as a crucial feature of their care role, and one that persisted across the entire disease trajectory.

Professional providers: Managing safety.

Finally, discussion among clinical providers centered on issues of safety due to chorea in HD patients. Collectively, providers voiced concerns around falling, noting how patients’ difficulties navigating stairways and even getting out of chairs often resulted in patient falls. For example, Ted, one of the clinical providers, emphasized what goes into managing safety concerns associated with chorea:

Each individual resident is different. You will see one walking down the hall fine despite the unstable gait, but then you’ll see another with arms flailing in the air just to keep their balance, and sometimes it is safer because that is how they are keeping their balance. (15_Male 5)

Another provider, Wendy, a physical therapist, echoed these concerns when she elaborated on the unique challenge to provide safety for persons with HD chorea:

People are still ambulatory, but you want to guard them so that they can walk down the hallway safely, and all the guarding techniques that you learned with other neuro patients actually worked against me (with chorea) because I wanted to be close and hold on and give them more balance and really I was making it harder for them and for me. (15_Female 7)

At the same time, other providers, reflected on challenges to supporting safety among persons with chorea. For example, Daniel, an HD provider, expressed how providers can feel thwarted in their attempts to support or guarantee safety:

Anything that requires balance, they should not be doing...Earlier, you tell them ‘you shouldn’t be, you know, climbing up ladders working on your roof’, and things like that. Now if they do it, they fall, eventually (16_Male 1).

Given the physical and other challenges presented by chorea, and the role of clinicians in HD care, that providers see safety as a primary focus seems natural and appropriate.

Discussion

Chorea is one of the hallmark features of HD, but may be overlooked in and of itself. Thus, focusing on the lived experiences of chorea specifically, and from across the full disease spectrum, contributes to a more nuanced understanding of the global and specific impacts of chorea on daily life and HRQOL. Specifically, global findings presented in this paper illustrated shared experiences of chorea for individuals with HD, caregivers, and care providers. There was notable concordance with respect to anticipation of and watchfulness for chorea and disease progression, chorea’s stigma, and negative impacts of chorea on independence and interpersonal relationships. As HD diagnosis is historically based on the onset of clinically significant motor symptoms, it was not surprising to hear both family members and clinical care providers reference chorea as the benchmark by which they assess onset of HD and/or track disease progression.⁷² In addition, reported concerns about the perceived stigma associated with choreiform movements corroborate existing qualitative^11,14,73 and quantitative studies⁷⁴ that support this relationship in HD. Furthermore, the participants’ reports of chorea and its associated functional declines corroborate the extant literature supporting this premise.^75–81

In addition to the concordant themes heard across the different respondents, there were also several respondent stage/role specific themes (at-risk/prodromal HD, early HD, late-HD, caregivers, providers) that provided additional insights with regard how the specific or most salient impacts that chorea has on HRQOL may shift over the course of the disease process. For example, those that were either at-risk for or with prodromal HD described the explicit concern and watchfulness they experienced with respect to if and when onset of HD and chorea would occur. This finding aligns with the extensive literature regarding the constant monitoring of behavior as a potential indicator of disease onset among those that are either at-risk for or with prodromal HD.^82,83 With regard to early-stage HD, descriptions of chorea focused on the need to recognize, accept and actively adapt to (i.e. cope with) the increasing demands of chorea and HD. This finding is consistent with broader models of disease progression and coping⁶¹ but has not received sufficient attention in the extant HD literature. For study participants with late-stage HD, who are often excluded from research of this kind, the descriptions of loss in their autonomy and social participation due to chorea supports documentation relating chorea to functional declines in HD^75–81 and further highlights the negative impact that chorea can have on day-to-day functioning on individuals with this disease.

Including reports from family caregivers along with those of individuals at risk-for or with HD, findings highlighted additional unique thematic content with regard to chorea and its impact on HRQOL in HD. For example, among caregivers, chorea was typically described in the context of tracking/monitoring disease progression and trying to foster prolonged functioning by keeping their care-recipients physically active – and socially engaged. Such monitoring echoes prior research noting the importance of supporting physical activity engagement in individuals with HD in maximizing overall quality living.^84–89 Finally, among healthcare providers, the dominant theme focused on the safety needs associated with advancing chorea. This focus in consistent with literature relating chorea to injury (including falls) ^{20,21,90–93} .

From a meta-theme perspective, these findings serve to highlight and illustrate the interrelated and consequential ways in which chorea reshapes perceptions, activities, interactions, and quality of daily life. Participants described an array of challenges with taken for granted daily and life events, such as driving, socializing, pursuing one’s career, or entering intimate partnerships. In response, persons with HD and those who care for them express a heightened awareness and attunement with respect to self, others, and their environments. This attunement was expressed in efforts to monitor and sustain daily life and again in strategies required to maintain safety, when needed. At the same time, themes captured a noteworthy perseverance in the form of active adaptation to the effects of chorea. Such adaptation reflects a palpable resolve to maintain the autonomy and engagement of HD patients as much as possible.

Illuminating specific personal and social challenges of chorea, along with the actual ways in which persons with HD adapt to these challenges, should be more widely disseminated among those who serve and interact with HD familiars (i.e., counselors and health practitioners) as well as the general public. Increased awareness of the generalized and specific impacts of chorea can catalyze and inform the design and development of evidence-based behavioral, therapeutic, and medicinal intervention strategies for persons with HD and their family caregivers. Ideally, the advent of accessible and effective interventions will mobilize and leverage the innate resourcefulness of these families to better serve and sustain persons with HD chorea and their families.

While this study elucidates the lived experiences of chorea and its impacts on functioning and HRQOL across the HD disease spectrum, it is also important to acknowledge several study limitations. First, broader generalizability of these reported findings is limited by the lack of overall representation of the sample. More research focusing on racial and ethnic minorities with HD is needed to capture potential variations in lived experiences of chorea and ensure generalizability of findings to these groups. Furthermore, the focus groups were relatively small, consisting of a convenience sample. In addition, this was a secondary analysis of data that were collected to examine HRQOL more broadly. Therefore, the themes related to chorea may not fully capture all of the issues and concerns experienced by individuals with HD and/or their care providers.

In sum, findings from this study serve to focus attention on the significant impact that chorea has on individuals’ emotional, interpersonal, and professional functioning and HRQOL across the full HD disease spectrum. It is clearly time to prioritize the treatment of chorea, and address the concerns - and integrate the adaptive strategies - described by patients themselves. Those in HD research and practice have the potential to improve day-to-day functioning for individuals with HD regardless of HD stage. Ultimately, better symptom management of chorea should help improve the overall HRQOL with the goal of prolonging healthy and productive lives of these individuals.