Clin Genet 2011: 80: 235239Printed in Singapore. All rights reserved

2011 John Wiley & Sons A/SCLINICAL GENETICS

doi: 10.1111/j.1399-0004.2011.01748.x

Social and Behavioural Research in Clinical GeneticsSection Editor:Aad Tibben, email: a.Tibben@lumc.nl

Impact of Huntingtons across the entiredisease spectrum: the phases and stagesof disease from the patient perspective

Ho AK, Hocaoglu MB for the European Huntingtons Disease NetworkQuality of Life Working Group. Impact of Huntington disease across theentire disease spectrum: the phases and stages of disease from the patientperspective.Clin Genet 2011: 80: 235239. John Wiley & Sons A/S, 2011

Although Huntingtons disease (HD) is a neurodegenerativedisease characterized by motor, cognitive and behavioural disturbances,there has been little empirical data examining what patients aremost concerned about throughout the different stages of disease, which canspan many years. Semi-structured face-to-face interviews were individuallyconducted with 31 people living with different stages of Huntingtons,from pre-clinical gene carriers to advanced stage. We examinedhow often participants raised issues and concerns regarding the impactof Huntingtons on everyday life. The Physical/functional theme hardlyfeatured pre-clinically, but was strongly present from Stage 1, rose steadilyand peaked at Stage 5. There were no significant changes between stagesfor the Emotional, Social, and Self themes that all featured across allstages, indicating that these issues were not raised more frequently over thecourse of the disease. Likewise, the more rarely mentioned Financial andLegal themes also remained similar across stages. However, the Cognitivetheme only featured between Stages 1 and 4, and hardly at all pre-clinicallyand at Stage 5. These findings provide insight into patients importantand unique perspective and have implications for the managementand development of interventions across the spectrum of HD stages.

Conflict of interest

The authors have reported no conflicts of interest.Re-use of this article is permitted in accordance with the Terms andConditions set out at http://wileyonlinelibrary.com/onlineopen#OnlineOpen_Terms

AK Ho and MB Hocaoglu forthe European HuntingtonsDisease Network Quality of LifeWorking Group

School of Psychology and ClinicalLanguage Sciences, University ofReading, Reading, UK

See Appendix.

Key words: emotional well-being functional ability Huntingtons disease physical quality of life social

Corresponding author: Dr Aileen K. Ho,School of Psychology and ClinicalLanguage Sciences, University ofReading, Earley Gate, RG6 6ALReading, UK.Tel.: +44 118 378 8523;fax: +44 118 378 6715;e-mail: aileenkho@netscape.net

Received 2 May 2011, revised andaccepted for publication 4 July 2011

Huntingtons disease (HD) is a hereditary auto-somal dominant neurodegenerative disease forwhich direct mutation predictive testing has beenavailable since 1993. Although the motor, cog-nitive and behavioural disturbances associatedwith HD have been well documented in theliterature, there is little empirical data examining

how this translates into what patients themselvesare concerned about throughout the long courseof disease. The profound impact on patientsphysical and also psychosocial well-being (1, 2)has been showed through data from generic qualityof life questionnaires. While these generic mea-sures are useful, they also arbitrarily constrain the

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information provided, and hence limit our knowl-edge of patients experience of living with thiscomplex disease. Interview studies which allowpatients to freely describe the impact of diseaseplay an important role in providing a meaning-ful understanding of patients perspective on theirown well-being. The accumulating body of qual-itative interview research in HD has focussed onspecific topics or specific patient subgroups (3, 4).Information on the everyday impact of HD andpatient experiences at different stages of HD isscarce. This study seeks to investigate how HDaffects the experience of everyday life in order tounderstand what types of issues are at the forefrontof patients minds, and how the profile of concernsmay evolve throughout the full trajectory of illnessfrom pre-clinical to end-stage HD.

Methods

Participants

Eighty individuals from pre-clinical status(Pre-HD) to late-stage HD were invited to partici-pate; 31 people volunteered within the time frameof the study and provided consented to partici-pate. Pre-HD individuals were HD mutation carri-ers identified by the predictive test who reportedthat they have not yet been given a diagnosis ofmanifest HD. The entire clinical disease spectrumwas represented, and operationalized according toself-reported Shoulson and Fahn (5) severity stag-ing, ranging from Stage 1 (i.e. able to function athome and work) to Stage 5 (i.e. require full-timecaring and nursing). All participants were fromthe UK and comprised Pre-HD (3), Stage 1 (5),Stage 2 (5), Stage 3 (3), Stage 4 (9) and Stage 5(6) individuals; 67.7% were females, 32.3% males,61.3% were aged between 30 and 59 years, and38.7% between 60 and 89 years.

Data collection and analysis

Semi-structured interviews were conducted at par-ticipants homes and lasted approximately 60 min.Interview questions were standardized using open-ended questions, followed by probes. These probesaddressed areas indicated by the health-relatedquality of life concept as defined by emotionalwell-being, spirituality, sexuality, social function-ing, family life, occupational functioning, commu-nication, eating, functional ability, physical status,treatment satisfaction, self-esteem, body image,future orientation, global ratings of health andlife satisfaction (6). Pictorial topic cards were alsoused to facilitate the interview process and sup-port communication with Stage 5 participants since

this has been shown to be useful in previousresearch (7). Interviews were recorded, transcribedverbatim, and classified according to themes thatemerged, i.e. (i) Physical/functional, (ii) Cogni-tion, (iii) Emotion, (iv) Social, (v) Self, (vi) Legaland (vii) Financial. Detailed qualitative analysis ofinterview narratives was beyond the scope of thisbrief report.

In this study, the number of times each par-ticipant mentioned specific instances where HDhad a negative impact on their lives was classifiedaccording to the seven themes. For each partici-pant, the frequency with which they raised issuesrelating to each theme in interview was summedaccording to theme and then divided by the totalnumber of reports across all themes to be expressedas a percentage frequency for each specific theme.In order for meaningful comparisons to be madeacross different disease stages, the percentage fre-quency of reporting each theme was then averagedacross the number of participants in each stage ofdisease. Therefore, Fig. 1 shows the average per-centage frequency of participants raising of eachtheme for each disease stage.

Results and discussion

As shown in Fig. 1, most of the issues raised bypre-HD participants fell into the Social theme (i.e.family relationships in the context of HD, dissatis-faction with Huntingtons services, lack of support(family, friends, health professionals, and commu-nity), and others perceived attitude to HD andlack of awareness regarding Huntingtons), fol-lowed by the Emotional theme (i.e. anxiety regard-ing the impact of Huntingtons on the family andalso themselves in terms of emerging HD signsand symptoms). Some of these latter concerns res-onated with the Self theme (i.e. acceptance of HD,self-confidence, independence, and especially ful-filling personal wishes). Legal issues were raisedless frequently than other themes, but seemed tofeature strongly in pre-HD relative to other stages,as the implications of the disease led to mak-ing appropriate arrangements up front, particularlyregarding insurance. Physical/functional and Cog-nitive issues hardly featured at all in pre-HD.

In Stage 1, Physical activities and functionalability (i.e. difficulty in sleeping well, swallow-ing food and drink, and experiencing twitchesand jerks), Cognitive issues (e.g. difficulty in con-centrating, organizing, deciding, slower in gettingthings done, and particularly difficulty in remem-bering everyday information), Emotional issues(low mood, low motivation, and particularly anxi-ety about the emergence of signs and symptoms

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Impact of Huntingtons disease

0

10

20

30

40

50

Pre -HD Stage 1 Stage 2 Stage 3 Stage 4 Stage 5

Aver

age

Fre

quen

cy (%

)

Physical/Functional

Cognition

Emotion

Social

Self

Finance

Legal

Fig. 1. Average frequency (%) for each theme according to Huntingtons disease stage.

associated with HD) were frequently reported.Social (complicated family relationships in thecontext of HD, lack of support and awareness ofHD from those around them, as well as concernsregarding going out to socialize) and Self (fulfillingpersonal wishes and changes in self-confidence)themes also appeared.

For Stage 2 participants, Physical/functional(i.e. swallowing food and drink, sleeping well,driving performance, maintaining a stable bodyweight, changes with balance, walking, clarity ofspeech pronunciation, and writing ability), Emo-tional (i.e. low mood, low motivation, anxietyabout signs and symptoms associated with HD,losing patience, mood swings, and worries regard-ing the impact of Huntingtons on the family),Cognition (i.e. difficulty in remembering everydayinformation, organizing daily activities, changes inspoken language expression, ability to learn newthings and multitasking), Social (complicated fam-ily relationships in the context of HD, going outfor social occasions, maintaining sexual relation-ships, others attitude to HD and lack of aware-ness regarding Huntingtons, and dissatisfactionwith Huntingtons services) and Self (i.e. fulfill-ing personal wishes, changes in self-confidence,embarrassment and being self-conscious) themesfeatured. The Financial theme (mainly issues sur-rounding change or loss of employment) occurredless frequently, and occurred even less in subse-quent stages.

In Stages 3 and 4, the Physical/functionaltheme (i.e. sleeping well, swallowing, tiredness,

speech pronunciation, walking, stair climbing andhandling objects, driving, balance, chorea, slow-ness, dressing, washing and slowness, and alsoincontinence in the latter stage) was more dom-inant than other themes of Cognition (i.e. concen-trating, remembering everyday information, slowto get things done, making decisions, spoken lan-guage expression, learning new things and timeorientation), Emotion (i.e. anxiety over HD signsand symptoms, low motivation, for the latter stagelow mood and mood swings, and anxiety regardingthe impact of Huntingtons on the family), Social(key issues at Stage 3 were regarding going out forsocial occasions, others attitude to HD and lackof awareness regarding Huntingtons, and main-taining sexual relationships; and at Stage 4, inef-fective communication, others attitude to HD andlack of awareness regarding Huntingtons, familyrelationships in the context of HD, lack of sup-port from family, friends, and health professionals,going out to socialize occasions and maintainingsexual relationships), and Self (i.e. reduced con-fidence, independence, fulfilling personal wishes,feeling embarrassed or self-conscious, and for thelatter stage the acceptance of HD in ones life).

The dominance of the Physical/functional theme(i.e. key issues were ambulation, and swallowing;also raised was feeling tired and sleeping well,issues regarding maintaining body weight, clar-ity of speech, movement control, and writing anddressing) was clear in Stage 5, while the Cogni-tive theme hardly featured. Low mood was themost frequently raised Emotional aspect in Stage

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5, with only a few individuals mentioning lowmotivation, feeling angry and worrying about HDsymptoms. The key Social issue for most Stage 5participants was the lack of support from family,friends and health professionals. Like other stages,the Self theme was represented mainly by issueswith self-confidence, self-consciousness, and per-sonal wishes.

Using KruskalWallis nonparametric one-wayanova, the effect of stage was examined for eachtheme. The occurrence of Emotion, Social, Self,Finance and Legal themes were not significantlydifferent between groups, however the Physi-cal/functional (H(5) = 12.70, p < 0.05) and cog-nitive (H(5) = 11.40, p < 0.05) themes showedsignificant differences. Post hoc analyses showedthat for the Physical/functional theme, there wasa significant difference between pre-HD and Stage1 (U = 0.00, p < 0.05), but not for consecutivegroups at subsequent stages, and only a trendbetween Stage 1 and Stage 5 (U = 5.00, p