Originally published online May 8, 2008 - Cardiff …orca.cf.ac.uk/9102/1/PHYS THER-2008-Busse-820-31.pdfdoi: 10.2522/ptj.20070346 Originally published online May 8, 2008 PHYS THER.€2008;

doi: 10.2522/ptj.20070346Originally published online May 8, 2008

2008; 88:820-831.PHYS THER. RosserMonica E Busse, Hanan Khalil, Lori Quinn and Anne EHuntington DiseasePhysical Therapy Intervention for People With

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Physical Therapy Intervention forPeople With Huntington DiseaseMonica E Busse, Hanan Khalil, Lori Quinn, Anne E Rosser

Background and Purpose. The clinical symptoms of Huntington disease (HD)include progressive movement disorders, cognitive deficits, and behavioral changes,all of which affect an individual’s ability to participate in activities of daily living. Todate, very few quantitative or qualitative studies have been conducted to guidephysical therapists working with people with HD. The objective of this study was tocharacterize current physical therapist practice for people with HD, thus informingthe development of standardized clinical care and future research studies.

Subjects and Methods. Consultation with physical therapists working withpeople with HD was undertaken in the form of mailed questionnaires (n�49) andsemistructured interviews (n�8). The development of the interview schedule wasaided by consideration of the data obtained from the questionnaires. Themes iden-tified from the interviews were considered in light of published literature andquestionnaire responses.

Results. The main issues that emerged from the interviews were classified into 3subthemes: (1) there is insufficient use of routine physical therapy–related outcomemeasures at different stages of HD, (2) there is underutilization of physical therapyservices in managing HD (particularly in the early stages), and (3) the management offalls and mobility deficit progression is a key treatment aim for people with HD.

Discussion and Conclusion. A conceptual framework for physical therapyintervention in HD was developed on the basis of the themes that emerged from thedata in this study. Such a framework has utility for complex, progressive conditionssuch as HD and may facilitate clinical decision making and standardization of practiceand affect the development of future physical therapy trials.

ME Busse, PhD, is Lecturer, De-partment of Physiotherapy,School of Health Care Studies,Cardiff University, Ty Dewi Sant,Heath Park, Cardiff CF14 4XN,Wales, United Kingdom. Addressall correspondence to Dr Busse at:[email protected].

H Khalil, MSc, is Lecturer, Facultyof Applied Medical Sciences, Jor-dan University of Science andTechnology, Irbid, Jordan.

L Quinn, PT, EdD, is Honorary Re-search Fellow, Department ofPhysiotherapy, School of HealthCare Studies, Cardiff University,and Senior Lecturer, Program inPhysical Therapy, School of PublicHealth, New York Medical Col-lege, Valhalla, NY.

AE Rosser, PhD, is Professor ofClinical Neuroscience, Depart-ments of Neurology and MedicalGenetics, School of Medicine,Cardiff University, and Brain Re-pair Group, School of Biosciences,Cardiff University.

[Busse ME, Khalil H, Quinn L,Rosser AE. Physical therapy inter-vention for people with Hunting-ton disease. Phys Ther. 2008;88:820–831.]

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Huntington disease (HD) is aninherited, neurodegenerativecondition resulting in clinical

symptoms of progressive movementdisorders, cognitive deficits, and be-havioral changes that may affect anindividual’s ability to participate inactivities of daily living, work, andcommunity. The current manage-ment of HD is focused on symptomsbecause there is no curative treat-ment.1 Physical therapy may play arole in assisting people with HD tomaintain their independence in ac-tivities of daily living by addressingboth impairments and limitations infunctional activities.

Despite the potential for physicaltherapy to assist people with HD,evidence suggests that people withHD are not always routinely referredfor physical therapy, particularly inthe early stages.2–4 This lack of refer-ral may be attributable to the limitedscientific support for the effective-ness of physical therapy interven-tions in HD.5 Although animal mod-els and small-scale studies of physicaltherapy in humans have led to thebelief that directed physical activity,environmental enrichment, andtraining may be beneficial, clinicaljudgment, experience, and trial anderror remain the major mechanismsthrough which interventions arejustified.2,6–11

A recent study12 investigated thebenefits of participation of patientswith early- and middle-stage HD inan inpatient rehabilitation program.The treatment program includedrespiratory exercises and speechtherapy, physical therapy, and occu-pational therapy. Patients were ad-mitted for 3-week periods of inten-sive treatment that were repeated 3times per year for 2 years. Data fromthe first year indicated that 25 of theinitial 40 patients who started thestudy completed the 3 admissionsduring that year; only 11 patientscompleted all of the 6 admissions in

the 2 years. Each 3-week period oftreatment resulted in highly signifi-cant (P�.001) improvements in mo-tor performance, as measured by thePhysical Performance Test (PPT). Nomotor decline, as measured by thePPT, was detected over 2 years(n�11). These findings give some in-dication that intensive rehabilitationpositively influences motor and func-tional performance in patients withearly- and middle-stage HD. The com-ponents of the provided rehabilita-tion that resulted in change couldnot be clearly determined.

The design and implementation ofrandomized controlled trials for peo-ple with HD are limited by a lack ofknowledge of the specific content ofinterventions. Obtaining knowledgeabout the content of programs cur-rently being implemented is an im-portant step in providing therapistswith the information to develop morestandardized methods of interventionand to initiate further research thatcan determine the benefits of specificphysical therapy interventions in acontrolled manner.

The purpose of this study was toidentify the specific components ofphysical therapy practice for peoplewith HD. Specific research questionswere: (1) What is the nature of phys-ical therapist practice? and (2) Whatare the influential limiting factors rel-evant to the provision of physicaltherapy for people with HD? Be-cause this study was focused on de-veloping an understanding of physi-cal therapist practice relative to HD,a qualitative methodology was con-sidered appropriate. Qualitative re-search most typically involves the de-velopment of concepts that mayemerge into theory13 and, therefore,was the approach of choice in thisstudy.

MethodStudy Design and ApproachIn order to describe the nature ofphysical therapy practice, consulta-tion in the form of semistructuredtelephone interviews with physicaltherapists based in specialized HDcenters was undertaken. A prelimi-nary questionnaire study was alsoconducted. This questionnaire datacontributed to the development ofthe interview questions and furtherfacilitated triangulation during thelater stages of the study. From theinterviews, in-depth information wasgathered from participants relatingto their experiences in the assess-ment and treatment of people withHD. Ultimately, the data were usedto develop guidelines and a theoret-ical framework for physical therapypractice specifically relevant to peo-ple with HD.

The semistructured telephone inter-view, which was the primarymethod of data collection in thisstudy, allowed exploration of the is-sues of interest with the use of open-ended questions without the con-straint of predetermined categoriesof analysis.14 In accordance with thismethod, a “grounded theory” ap-proach was used to influence datagathering and analysis.15 This hasbeen described as an approach that“starts from the ground and worksup in an inductive fashion to makesense of what people say about theirexperiences, and then to convertthose statements into theoreticalpropositions.”15(p102)

Study ProceduresPreliminary questionnaires. Physi-cal therapists with a special interestin neurology (n�200) were selectedrandomly from the United KingdomAssociation of Chartered Physiother-apists Interested in Neurology re-search database to receive a mailedquestionnaire. Stamped, self-addressedenvelopes were provided for thereturn of the completed question-

Physical Therapy in Huntington Disease

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naires. The questionnaire comprised3 sections. The first section collectedrespondents’ demographic detailsrelevant to their treatment of peoplewith HD. The second section con-sidered referral for physical therapyand the treatments provided. Open-ended questions were used to obtainqualitative information about issuessuch as falls and the effects of be-havior and dementia on physicaltherapy treatments. The third sec-tion included questions about guide-lines for care and outcome measuresroutinely used in the treatment ofpeople with HD.

Semistructured interviews. In or-der for the interviews to yield suffi-cient amounts of descriptive data, weused a purposive sampling strategy14

that involved recruiting physical ther-apists from a broad geographical areaand with a range of experiences to beinterviewed. Participants were special-ist physical therapists who had expe-rience working with people with HD.Table 1 provides a detailed descriptionof the participants.

There are no established rules to aidin sample size determination in qual-itative research.16 The decision as towhen sufficient participants had beeninterviewed was related to the point atwhich no new themes emerged; that

is, when theoretical saturation wasachieved.13 Eight participants were re-cruited for this study, and the initialanalysis of transcribed data indicatedthat the saturation point had beenachieved. Interviewing was discon-tinued at this stage, and further anal-ysis of the conducted interviewsconfirmed that recurrent themes ap-peared to be emerging in all of theinterviews.

The participants were recruited viaadvertisement on the Chartered So-ciety of Physiotherapy discussionboard. All of the telephone inter-views were conducted by one re-searcher and audio recorded. Fieldnotes were made by an additionalresearcher, who also was presentduring all of the interviews. Specialattention was given within the inter-view process to reframing, repeti-tion, and expansion of the questionsas required, thus enhancing the cred-ibility of the information that wasobtained. The interviewer used apreplanned schedule (Appendix) thatserved as a checklist for the questionscovered during the course of each in-terview and as a guide toward thetopic areas for discussion, thereby fa-cilitating a consistent and systematicmethod of data collection. The devel-opment of the interview schedule wasaided by consideration of the data ob-

tained from the preliminary question-naires. The schedule aimed to cover 3basic topic areas during each inter-view: (1) assessment and treatmentplanning according to the stage of thecondition; (2) the effects of specificissues, such as behavior and dementiaproblems, on the management of HD;and (3) departmental policies with re-spect to people with HD and, specifi-cally, with respect to the potential fordeveloping care guidelines.

Responses to open-ended questionswere analyzed with a thematic ap-proach. Closed questions werecoded and then entered into and an-alyzed descriptively with the Statisti-cal Package for the Social Sciences(version 14).*

Interview Data AnalysisThe interviews were transcribed infull into text. This process of fulltranscription helped to strengthenthe trustworthiness of the data byavoiding selective recording of theinformation.14 Ensuring the truthvalue of the study, the accuracy ofthe transcripts was confirmed byboth the interviewer and the inde-pendent researcher as well as byconsultation with the participants

* SPSS Inc, 233 S Wacker Dr, Chicago, IL60606.

Table 1.Participant Experience in Working With People With Huntington Disease (HD)

Participant Place of Current Work Specific Experience With HD

1 Neurological rehabilitation unit Average of 1 or 2 adults with HD per year over the last 10 y.

2 Specialized HD unit Many adults with HD and mainly psychiatric problems. Average of 15–20people per year over the last 4 y in a private setting.

3 Specialized HD unit Average of 11–15 people per year over the last 18 y in an HD day therapyunit and community outreach service.

4 General hospital One case of juvenile HD.

5 Specialized HD unit Average of 10 people per year over the last 5 y (adults and older people withHD in an HD day therapy unit).

6 General hospital Average of 1 or 2 people per year over the last 18 y.

7 Mental health team One case of adult HD; referral for anxiety.

8 Community physical disability team Average of 15–20 people per year.




who were interviewed.17 Copies ofthe transcripts were sent, along withself-addressed, stamped return enve-lopes, to the interviewed partici-pants, inviting them to comment onwhether the transcripts fully repre-sented their ideas or not. Finalthemes also were sent to the partic-ipants for comment.

A qualitative data analysis package(QSR Nvivo, version 2.0.163†) wasused to aid in the analysis process forthe interview data. All codes were

saved within the NVivo database asnodes. As a result of highlighting ar-eas that were unclear and perform-ing further coding and refinement,the initial nodes were reordered, du-plicated, or merged. Following iden-tification of the themes, labeling andlayering of connections betweenideas and concepts were performedwith the modeling option in NVivo.Final themes were agreed on bythe research team and were sent tothe participants for checking. Thethemes were further cross-checkedand triangulated with the prelimi-nary questionnaire data as well aswith information obtained from a

critical review of available literature.This process allowed us to confirmthe content and the results obtainedfrom the interviews.18

ResultsPreliminary QuestionnairesOf 200 questionnaires sent, 118(59%) were returned and included inthe analysis. Of the 118 respondents,49 had treated an individual with HDduring the course of their career. Allof these 49 respondents had ob-tained their training in the UnitedKingdom. The respondents had anaverage of 15.3 years of experience(range�2.5–40). Therapists rangedin position from staff physical thera-pist to senior therapist/clinical spe-cialist. Therapists practiced in arange of environments, includinghospitals, outpatient settings, andspecialized long-term-care HD units.The majority of the therapists treated1 or 2 patients per annum (46.2%and 38.5% of total questionnaire re-sponses, respectively). The thera-pists most frequently saw patients inthe middle and late stages of the dis-ease (47.3% of the respondents forboth). Only 5.3% of the respondentssaw patients in the early stage.

Table 2 shows a summary of thequestionnaire results related to refer-ral for physical therapy and evalua-tion procedures. Table 3 summarizesthe respondents’ answers abouttypes of interventions that they usedfor people at different stages of HD.In the early to middle stages, therapistsgenerally implemented a problem-oriented approach and focused onfunctional activity training; in the latestages, therapists began focusing moreon respiratory therapy.

Semistructured InterviewsAll 8 recruited participants had ob-tained their undergraduate trainingin the United Kingdom. All were se-nior physical therapists with variedwork experience in the field of neu-rological rehabilitation (Tab. 1).

† QSR International Pty Ltd, 225-R ConcordAve, Cambridge, MA 02138.

Table 2.Summary of Questionnaire Results Relating to Referrals and Evaluation Procedures

Question Response Valid Percentage ofRespondents GivingThat Response (n�49)

Most common no. of peopletreated per year?

0 5.1

1 46.2

2 38.5

�5 10.2

First referral? Presymptomatic 0.0

Early stage 8.9

Middle stage 53.3

Late stage 37.8

Most frequent referralreason?

Mobility, balance, falls 57.1

Deteriorating function 20.0

Assessment only 8.5

Advice and support 5.7

Moving and handling 2.9

Respiratory 2.9

Seating 2.6

Are falls an issue? Yes 95.3

Is behavior a limitation? Yes 58.5

Is motivation a limitation? Yes 56.4

Is dementia a limitation? Yes 74.3

Is a physical therapyguideline available?

No 95.4

What outcome measuresshould be used in treatingpeople with Huntingtondisease?

None 44.4

Rating scales and timed tests 35.6

Rating scales only 11.1

Timed tests only 6.7

Goal setting 2.2




The questions used for the semi-structured interviews are shown inthe Appendix. The main issues thatemerged from the interviews wereclassified into 3 subthemes: (1) thereis insufficient use of routine physicaltherapy-related outcome measures atdifferent disease stages, (2) there isunderutilization of physical therapyservices in managing HD (particu-larly in the early stages), and (3) themanagement of falls and mobilitydeficit progression is a key treatmentaim for people with HD. The identi-fication of these 3 subthemes led tothe development of an overridingmaster theme: The management ofHD must be modified according toan individual’s problems and to thestage of disease (Fig. 1).

Subtheme 1: Insufficient use ofphysical therapy–related out-come measures that address HD-specific problems. Functional as-sessments were considered the mostappropriate method of evaluation.

Participants reported using generalmobility assessments that were partof the assessment procedures at theirhospital or facility. These includedobservational items, such as move-ment from a sitting position to astanding position, sitting and stand-ing balance, bed mobility, walking,and use of stairs. The participantswere in agreement that functionalassessments yielded the most infor-mation for them to make appropriateclinical decisions. Participant 6 said:

I think that much more important re-ally is to know what they can do. Forexample, if they can get to the toilet,get up or down stairs, make them-selves a meal, etc, that is much moreimportant than them being able towalk 10 m outside.

However, participants did express adesire for more functionally relevant,validated outcome measures. Al-though several participants realizedthe potential for standardized testsfor the purposes of obtaining infor-

mation about an individual’s currentfunctional status (eg, 10-m walk test)and highlighting the nature of anyimpairments (eg, Berg Balance Scale,Timed “Up & Go” Test [TUG]), noneof the therapists was currently usingany tools as outcome measures toassess the effectiveness of specificphysical therapy interventions. Par-ticipants agreed that it would be fea-sible to use the types of measuresthat are used for people with otherneurological conditions. Data fromthe questionnaires revealed that 57%of the respondents who did reportusing outcome measures routinelyused a combination of rating scalesand timed tests (such as the BergBalance Scale, the TUG, and the 10-mwalk test).

However, it was suggested that al-though these measures might beused as baseline measures, theymight not be good indicators for pre-dicting the probability of the risk offalls in people with HD. Participant 2said:

I sometimes use the Berg BalanceScale, but it is far from the ideal whenyou’ve got patients who got 25, 26 onBerg Balance Scale and are prettymuch largely independently mobilewith the occasional fall. Most peoplewith other conditions and suchscores would not be able to walk andhave recurrent falls. So, from thatpoint of view, it is not a good indica-tor except as a baseline to see howthey are getting on.

None of the interviewed participantsreported access to scores on the Uni-fied Huntington’s Disease RatingScale (UHDRS), even though the testwas designed specifically for HD andincludes a Motor Assessment and aFunctional Assessment. The UHDRSis an observer-rated and clinic-basedoutcome measure that may not re-flect what people are actually able todo in their own environments. Par-ticipant 6 said:

Table 3.Types of Interventions Most Frequently Used by Therapists for People at DifferentStages of Huntington Disease (HD)a

Intervention Valid Percentage of Respondents Using That Intervention for HD atFollowing Stage (n�49):

Presymptomatic Early Middle Late

No treatment 86.7 62.2 26.7 33.3

Balance, mobility,and preventionof falls

2.2 2.2

Core stability 2.2 2.2

Provision ofequipment andposturalsupport

2.2

Physicalconditioning

2.3

Problem-orientedapproach andfunctionalactivities

6.7 33.3 55.5 15.6

Respiratorytherapy

2.2 4.5 13.3 44.4

Patient education 2.3

a No entry in a cell indicates no response to that particular intervention for that stage.




It is so difficult, because there are somany outcome measures out there. Ideal a lot with multiple sclerosis (MS),and there is not one that suits every-body, and I really get upset becausethe clinic uses the EDSS [ExpandedDisability Status Scale], which is sim-ilar to the UHDRS for HD; I found thatdoes not mean anything. I mean thereare a lot of variables. Time of day,place of assessment, people are ner-vous, and it does not necessarily re-late to what the patient can do athome.

In summary, there was agreementthat functional assessments providedthe most information for therapiststo make appropriate clinical deci-sions and to guide their interven-tions. Although therapists recognized

the need for using outcome measures,they were unsure of which tools weremost appropriate to use.

Subtheme 2: Underutilization ofphysical therapy services in man-aging HD. A second subthemethat emerged from the interviewswas that physical therapy serviceswere underutilized for people withHD, particularly in the early stages.The main issues discussed were pol-icies for the referral of people withHD for physical therapy services, thenumber of people referred per year,and the stages at which referral oc-curred. The responses regarding thenumber of people referred for phys-ical therapy services differed accord-ing to the areas in which the peoplewere referred. Interviewed partici-pants working in nonspecialist areassuch as general hospitals (partici-

pants 4 and 6) treated 1 or 2 peopleper year. In contrast, participantsworking in specialist areas such asspecialized HD units (participants 2,3, and 5) reported treating largernumbers of people (10–20) per year.Most of the interviewed participantsreported that referrals occurred inthe middle to late stages of the dis-ease, although there was agreementthat physical therapy would be mostbeneficial in the early stages.

Participant 1 was particularly con-cerned about the lack of early inter-vention and indicated that becauseearly-stage referral was achievablefor people with Parkinson disease, italso should be available for thosewith HD. This participant indicatedthat the benefits of early-stage inter-vention would include helping thetherapist to establish a baseline, es-tablishing a relationship with the pa-tient and the caregivers at an earlystage, and assisting the patient inmaintaining mobility and functionalindependence for as long as possi-ble. This participant said:

We do not see them early enough. Wedo not see them as soon as diagnosedin the same way as we see MS pa-tients, very close to diagnosis. It usedto be a problem with Parkinson dis-ease, we used to see them at the verylate stages, but we see them nowmuch, much earlier, so with HD, if wesee people earlier, then we can havebaselines and establish relationshipswith people and their carers from thatearly stage, and then give them adviceon activities to maintain mobility.

Other factors related to people withHD themselves were considered toinfluence the initial referral for phys-ical therapy services. Participant 3,working in a day therapy unit and acommunity outreach service, com-mented that people in the presymp-tomatic stage rarely were seen in theclinic and instead were seen in thecommunity setting. Participant 3 feltstrongly that fear of the future may

Figure 1.Representation of the 3 subthemes and the master theme for Huntington disease (HD).




act as a barrier to coming to a clinic,where they may see what the futurewould be like, saying:

A lot of patients that start as outreachare perhaps the children of patientswho are actually coming into the unit.They may be presymptomatic, andthey do not want to come to the unit,where they may see what the futureholds.

Participant 6 added that a patient’srefusal to confront or acknowledgethe problem might be another fac-tor, saying:

I would say that I have not seen pre-symptomatic. I’ve seen 2 or 3 patientsat the early diagnosis side of it, justafter they’ve being diagnosed. Most ofthose who were diagnosed ignore itunless the families were keen on ourinvolvement.

Thus, the problem of early-stage re-ferral may be multifaceted. Althoughmost of the interviewed participantsreceived referrals in the middle tolate stages of the disease, the moreexperienced therapists felt stronglythat they did not see people withHD early enough. They agreed thatphysical therapy would be most ben-eficial in the early stages of thecondition.

Subtheme 3: Management of fallsand mobility deficit progressionin HD is a key treatment aim. Allparticipants identified falls and riskof falls as some of the primary prob-lems that need to be addressed inpeople with HD. The progressivenature of the disease results in al-terations in mobility that place peo-ple in a high-risk category for fallsand injuries. Accordingly, preventionof falls was suggested as an impor-tant element in a physical therapyprogram implemented for peoplewith HD.

Facilitation of the development ofcoping strategies was one of themethods recommended for reducing

the risk of falls in people with HD.Despite the fact that people with HDin the late stages look unsafe anduncontrolled when they move, manyof the participants believed that gaitshould not be corrected or changed.It may be preferable to allow peopleto develop their own coping strate-gies. Participant 1 said:

I have not felt that I could intervenein such a way to make a significantchange in their gait, and I have beenafraid that by trying to do something,that could actually interfere with theway that these individuals have devel-oped their gait. I have not tried tomodify the gait but to modify the en-vironment and the carer.

The fact that safety and mobility maybecome severely compromised inthe late stages of the disease wascommented on by participant 1,who said:

I think for anybody observing some-one at the late stage of HD with mul-tiple choreic movements occurringduring the day, it is frightening towatch, it just looks very dangerousand very uncontrolled even thoughthe person can actually move frompoint A to B safely; it does look veryunsafe and then we need to introducethat to the home environment wherethere are a lot more things to gowrong, to trip over.

With regard to what is believed to besafe performance of an activity (suchas ambulation), participants believedthat there were frequent disagree-ments between family members orcaregivers and people with HD.Therapists working with peoplewith HD should acknowledge andaccept the need of these people forfunctional independence. It seemsthat this is part of living with thedisease, although it may mean an in-creased risk of injuries from falls. Par-ticipant 3 said:

We had one patient, a very youngman . . . and had great difficulties

with him when he wanted to mobi-lize. The unit staff were really veryconcerned because he was falling somuch when he got out of his chair,and they were rushing to prevent himgetting up, which he found frustrat-ing. In the end, we agreed on a com-promise, where he would be allowedto mobilize freely and the staff wouldnot get too close . . . that was the wayhe was less likely to fall.

On the basis of the data from theinterviews, walking aids for safer mo-bility can be prescribed for peoplewith HD. However, their use shouldbe individually assessed and treatedwith caution. It seemed that mosttherapists believed that walking aidssuch as walkers and canes weremore of a hindrance. Chorea canmean that a walking aid becomesmore of a hazard for people withHD. In addition, some people withHD have difficulty with persistentmotor activity and are thereforelikely to let go of the aid while usingit. With regard to cognition-relatedissues, some people may have diffi-culties navigating the environmentwith the aid, an issue that may in-crease the risk of falls. These aspectsrelating to the use of walking aids forpeople with HD were commentedon by participants 1, 6, and 8. Partic-ipant 1 said:

We will provide walking aids as theyneed them. We tend to find that theyare resistant to using walking aids,and sometimes it is difficult. I thinkwith choreic movement that wouldcause them more trouble. They cantrip over them or harm themselves.

Participant 8 summarized:

Sometimes providing walking aidsseems to make them worse, espe-cially if they get festinate in their gait,it seems to hinder them. If they arefalling and use side steps or step tosave, then the aids get in the way. It ismore trial and error with walking aidsas to what they receive, when andhow effective they are.




Participant 6 agreed with these 2participants and said:

From an aids point of view, I think itis very difficult, because I do not thinkwe have ever been successful supply-ing anybody with a walking aid be-cause of the arm movement. Some-times if you can get them toconcentrate long enough, they can doit, but of course towards the end, theirconcentration is poor. I mean there areso many cognitive problems as well.

Participants believed that teachingpeople to develop compensatorystrategies would be most effective inaiding in the prevention of falls.These strategies included developingcoping mechanisms, modifying theenvironment, modifying caregiverbehavior, and providing aids in cer-tain situations.

Master theme. The 3 subthemesall related to a master theme thatemerged from our analysis: Physicaltherapy management of HD must bemodified according to an individual’sproblems and to the stage of the dis-ease. To illustrate this master theme,we extended a framework (Fig. 2)originally developed by Dal Bello-Haas19 for people with neurodegen-erative diseases. When the interviewresponses from main questions 1 and3 (Appendix) are applied, this frame-work relates specifically to peoplewith HD and is supported by state-ments made by the participants.

The respondents identified func-tional deterioration as being corre-lated with increases in the numberand severity of motor impairments,as indicated by participant 8, whosaid:

At the early stage . . . more balanceand flexibility problems, coordina-tion, and sometimes loss of musclestrength. Mild to moderate [mid-stage] usually includes problems withwalking and falls and sometimes pos-ture problems and provision of equip-ment. Severe [late stage] tends to be

more maintaining range of move-ment, posture, and flexibility.

Therapists reported that at differentstages of the disease, different prob-lems emerged. Problems with behav-ior, cognition, and motivation werereported to be some of the main is-sues throughout the disease stages.As the motor disorders progress,cognitive impairments may interfere

with the learning of new skills. How-ever, some simple strategies can beimplemented by family members orcaregivers and by therapists to com-pensate for this situation. Participant8 commented on one patient:

We did try to involve him and usecueing references. We tried to keepinstructions quite simple and straight.We gave him pictures of exercises to

Figure 2.Conceptual framework for physical therapy intervention in Huntington disease. Mod-ified and reprinted with permission of Lippincott Williams & Wilkins from: Dal Bello-Haas VD. A framework for rehabilitation of neurodegenerative diseases: planning careand maximizing quality of life. Neurol Rep. 2002;26:115–129.




do, and we did not change the pro-gram. We kept on repeating it in thehope that he would learn that andinvolved his wife quite heavily withthat as well to try to reinforce thepattern of what we’re trying to gethim to learn.

Motivation also was considered tohave an impact on the physical ther-apy program, with an individual’sfeelings of helplessness, depression,and lack of understanding of theneed for physical therapy being themain reasons identified for nonad-herence. Some strategies for encour-aging an individual’s participation ina rehabilitation program and con-tinuing home exercises were men-tioned by participant 5, who said:

Family members have a big role really,and it is largely that. If a patient goeshome, they won’t do the exercisesunless somebody is there trying tomotivate and encourage them to dothem. We get family and carers onboard and use diaries that they tickwhen they have done exercises. Thathelps. . . .

The uncontrolled behavior of peoplewith HD was also considered to havea potential impact on the physicaltherapy treatment. Participant 2, whohad extensive experience workingwith people with HD and psychiatricproblems, suggested strategies to man-age uncontrolled behavior. Participant2 said:

We have patients with behavioralproblems that can have a massive im-pact on physiotherapy. Clearly, wehave quite a lot of experience withdealing with very difficult, aggressivepatients, so I normally manage that. Itry strategies to find ways around andget them involved and doing some-thing. If they are physically aggres-sive, then I will just try to gently holdthe patient and try to facilitate themthrough and just do a lot of positivepraise. . . . If they continue to be veryaggressive and resistant, then I try an-other day.

The noticeable shift in the manage-ment strategy from preventive in theearly stages to supportive in the latestages was mentioned by participant2, who said:

In terms of physiotherapy, I thinkthey should be more involved beforethey become symptomatic to workon things like core stability and theother things that they could benefitfrom in the long term. Right the waythrough, it is spending more time onthinking down the line, maintainingtheir posture, prevent muscle short-ening and when to keep them stand-ing and weight bearing, making sureposture is good at the meal time toprevent aspiration and then to makesure they are weight bearing evenlywhen they are sitting down or lying toprevent any pressure sores or thesesorts of things.

It is clear from the results presentedthat each of the participants feltstrongly that, at the different stagesof HD, therapists needed differentmanagement strategies, assessments,and goals. Although preventive strat-egies should be implemented in theearly stages of the disease, with theaim of delaying a further deteriora-tion in an individual’s condition, cur-rent management is mostly support-ive in the late stages of the condition.Late-stage management aims to re-duce the impact of complications.

DiscussionPhysical therapy may play a role infacilitating independence in activi-ties of daily living for people withHD. However, evidence for the effi-cacy of physical therapy treatment inpeople with HD is almost nonexist-ent, with little systematic researchaimed at developing strategies formanaging the mobility deficitspresent in this condition. Currently,for physical therapists working withpeople with HD, there is little docu-mented information to guide theirintervention strategies. The results ofthe present study have provided aframework that may help to better

direct physical therapists in the pro-vision of services for people with HDand to facilitate the development ofefficacy studies for people with HD.

Three subthemes and one mastertheme emerged from the interviews.The first subtheme involved physi-cal therapy assessment proceduresfor people with HD. The UHDRSwas not reported as being used, al-though it has a high degree of valid-ity and reliability for motor scores,meaning that it can be used for track-ing HD clinical features over time.20

Functional assessments were con-sidered the most appropriate meth-ods of evaluation. Measures such asthe Berg Balance Scale and the TUG,which are used for people with otherconditions, were recommended forpeople with HD. There is a need todevelop appropriate outcome mea-sures that are sensitive to physicaltherapy-related changes and that con-sider both impairments and associ-ated functional limitations for peoplewith HD.

The impact of cognition may be alimitation with any of the suggestedoutcome measures. Although theTUG has been recommended as ascreening tool for identifying olderpeople who are at risk for falling,21

poor performance on the TUG maybe attributed to cognitive impair-ments. For this particular test (asfor most functional tests that aretimed), an understanding of the in-structions and interactions amongthe patient, the assessor, and the en-vironmental setting are required.22

Given the deterioration of cerebralintegration and processing of sen-sory (visual, vestibular, and proprio-ceptive) information in the presenceof cognitive impairments,23 mobilityfunctions such as walking can benegatively influenced. It has beenfound that slower gait speed, de-ceased step length, and increasedstep-to-step variability are more com-mon in people with cognitive impair-




ments than in older adults who arehealthy.24,25

For the second subtheme, thepresent study demonstrated the un-derutilization of physical therapy ser-vices in managing HD, particularly inthe early stages of the condition. Re-ferrals for physical therapy servicesseem to be occurring in the middleand late stages, with insufficient re-ferrals occurring in the presymptom-atic and early stages.

Despite the underutilization of phys-ical therapy services in the earlystages of the disease, the presentstudy highlighted the benefits ofintervention soon after diagnosis. Aphysical therapy program imple-mented in the early stages and di-rected toward improving impair-ments such as reduced flexibility,coordination, balance, and musclestrength (force-generating capacity)has the potential to reduce diseasemanifestations and improve an indi-vidual’s quality of life.2 The impor-tance of providing physical therapyin the early stages of the disease hasa solid scientific foundation and the-oretical support in recent mousemodel studies.8,9,26,27 These studiessuggested that environmental stimu-lation in the early stages delayed thedegenerative loss of cerebral volumein mice. This remarkable effect ofenvironmental enrichment in delay-ing the onset of the disease in af-fected mice inferred a positive im-pact of physical therapy programs inhumans.

In the third subtheme, falls wereconsidered a major issue, particu-larly toward the late stages of thedisease. Although the incidence offalls in HD has not been empiricallydetermined, there is some evidencethat falls do occur in people withHD. In a gait study of people withHD, it was reported that 11 of 13people had a history of 2 or morefalls.28 This finding is in agreement

with data from our questionnaires, inthat 95.3% of the respondents con-sidered their patients with HD to beat risk for falling, with balance andloss of coordination as the main con-tributing factors. Interestingly, fallsprevention programs did not seem tobe routinely used by therapistsresponding to the questionnaire.Although falls are considered to beone of the major physical therapy–related issues associated withHD,1,7,29–31 the reasons for falls oc-curring in people with HD are un-clear. Falling in HD is a multifactorialissue, with impaired postural stabil-ity, dystonic postures, and gait dis-turbances considered contributingfactors.32 Falls and a loss of indepen-dent ambulation33 are often factorsthat precipitate admission to nursinghomes.

The master theme that evolved fromthe analysis of the interviews wasoverriding and connected the 3 sub-themes: Physical therapy manage-ment in people with HD, both eval-uation and intervention, must beadaptable to the individual and to thestage of the disease. This theme hasimplications for future physical ther-apy trials for HD, stratifying peopleaccording to the stages of the con-dition and then evaluating the ef-fectiveness of various managementapproaches at these stages. Cleardefinitions of specific interventionsand consensus as to best practicein physical therapy are essential toproviding the required evidence tojustify physical therapy interven-tions34,35 and are even more essentialin complex, changing conditionssuch as HD. Furthermore, a clear un-derstanding of the cognitive, motiva-tional, and behavioral issues that mayaffect treatment at different stages ofthe disease is required. Developingappropriate physical therapy inter-vention programs for HD is likely tobe complex,5 but a clear understand-ing of the components of the inter-ventions, factors that influence re-

sponses to treatment, and potentialmechanisms that may influence out-comes is essential before the initia-tion of large-scale trials.36

ConclusionThe results of this study lend supportto the suggestion that physical ther-apist management should be modi-fied according to the different stagesof the condition. The study was lim-ited in that it was conducted only inthe United Kingdom with a relativelysmall purposive sample. Despite thelimitations, there are implications forfuture physical therapy trials for HD,stratifying people according to thestages of the condition and then eval-uating the effectiveness of variousmanagement approaches at thesestages. Rather than relying on clinicaljudgment for treatment options, ther-apists may use the information gath-ered in this study to help them makebetter decisions based on consensusrecommendations from people work-ing in the field and justified by thecurrently available evidence. The in-formation gathered in this study alsomay facilitate the development of stan-dards of care and the design of futurephysical therapy trials.

All authors provided concept/idea/researchdesign and writing. Dr Busse and Mr Khalilprovided data collection and project man-agement. Dr Busse, Mr Khalil, and Dr Quinnprovided data analysis. Dr Busse providedfacilities/equipment. Dr Busse and Dr Rosserprovided institutional liaisons. Dr Busse, DrQuinn, and Dr Rosser provided consultation(including review of manuscript before sub-mission). The authors thank the participantsof this study, who gave so freely of theirtime.

Ethical approval was obtained for all aspectsof this study, and all research was under-taken in accordance with the Research Gov-ernance Framework of Cardiff University. Allsubjects signed informed consent state-ments prior to participation in the study.

The interview component of the study waspresented at the World Congress on Hun-tington’s Disease; September 9–11, 2007;Dresden, Germany.




This article was submitted November 19,2007, and was accepted March 6, 2008.

DOI: 10.2522/ptj.20070346

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Appendix.Interview Schedule

Greeting:

Thank you for agreeing to this interview. We want to explore your experiences of assessment and treating people withHuntington disease, which we will refer to as HD. The interview will last approximately 30 to 45 minutes, and it will be audiorecorded using a dictaphone. Written notes will be taken during the interview by an additional researcher. After the interview,the recording will be transcribed. The transcript will be sent to you to see if it represents your ideas.

We have sent you an information sheet and consent form. Have you read the documentation, and do you agree to participate andconsent to the audio recording?

Are you happy to continue?

Introductory Questions:1. Can you describe your physical therapy training?

FOLLOW-UP:—How long ago did you qualify as a physical therapist?—What was your qualification?—From where did you get your qualification?

2. Can you tell me about your past and current work experience?FOLLOW-UP:

—Experience in HD, including any postgraduate training.3. How many patients with HD do you treat per year?4. Referring to the stages of HD as pre (presymptomatic), early (mild impairment), mid (mild to moderate impairment), and late

(severe impairment, dependent for all care), at what stage of the condition usually are the patients that you treat?5. How are they usually referred into your service?

FOLLOW-UP:—What is the most frequent source of referral?—What are the most frequent reasons for referral?

Main Questions:1. According to the stage of the condition, what are the main problems that patients with HD have?2. How do you usually assess these problems?

FOLLOW-UP:—What outcome measures do you routinely use when treating patients with HD?

3. About your treatment plan. What treatments would you normally provide when dealing with patients with HD?FOLLOW-UP:

—How could this differ according to the stage of the condition?—When is the best time to address the problems?—What is the average frequency of treatment according to the stage of the condition?—What is your strategy to reduce the risk of falls?—What is your provision for the use of walking aids and assistive devices?—What support or advice is given to the family as a part of the treatment plan?

4. Do you consider behavioral problems with HD to affect your treatment?FOLLOW-UP:

—Could you explain how and why?5. Do you consider dementia in patients with HD to affect your treatment?

FOLLOW-UP:—Could you explain how and why?

6. What affects or limits your proposed treatment?7. Does your department have a care pathway for dealing with HD?

FOLLOW-UP:—If yes, could you please explain it?—If no, what is your opinion about using a standardized care pathway set up for dealing with HD?—What are the most important components?—How would it be structured?




doi: 10.2522/ptj.20070346Originally published online May 8, 2008

2008; 88:820-831.PHYS THER. RosserMonica E Busse, Hanan Khalil, Lori Quinn and Anne EHuntington DiseasePhysical Therapy Intervention for People With

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