Best Practice Guidelines for Physiotherapy in Huntington's Disease

Monica Busse

Co-lead facilitator

EHDN Physiotherapy Working Group

Senior Lecturer Cardiff University

Outline

1. evidence in support of physiotherapy practice?

2. about developing guidelines for practice

3. EHDN physiotherapy guidance

4. diagnostic classifications

5. commentary: walking aids and falls management; links with multi-disciplinary team

Authors/time Study design Sample details Intervention/method Key findingsQuinn et al 2002 single case study 49 year old male at mid

stage. 

Performing exercises from an exercise video which focused on balance, coordination and muscle strength, supported by carer at home for 5 times a week for 14 weeks.

Improvement observed in all of the following outcome measures: SF36, MFE, BBS scores, gait speed, UHDRS motor score. 

Imbriglio and Peacock 1992

expert opinion NA NA Physical therapy exercises are essential to slow down progression of symptoms and maintain independence and quality of life.

Sheaf 1990[ single case study a single case of advanced stage HD; data about the subject is not provided.

Gentle exercises in water supervised by a physiotherapist for unknown period.

No objective outcome measures were reported. Chorea subjectively noted to be reduced.

Peacock 1987[ case series 10 subjects with manifest HD; sample characteristics were not provided.

12 weekly sessions of relaxation training, flexibility, coordination, balance, strength and breathing control exercises/ details of exercise content, duration, intensity and adherence was not provided.

All subjects improved on tests of flexibility, coordination, breath volume and breath control/outcome measures were not clearly defined.

Lavers 1981 case series 6 subjects with manifest HD of a long term care psychiatric ward.

Group intervention programme/ once a week for 12- month period of a combination of mat exercises, ball games and walking programme.

No objective results were reported.

Binswanger 1980 case series 5 subjects with manifest HD; sample characteristics were not provided.

Individualized home based exercise programme supported by a physiotherapist performed twice a week for 4 weeks/ content of the exercises, intensity and duration were not provided.

Improvement in balance and mobility status and alertness; outcome measures were not clearly defined.

Authors/time Study design Sample details Intervention/method Key findingsKhalil et al 2010 [abstract]; manuscript under review

Randomised controlled trial

25 subjects with manifest HD; intervention (n= 12)/ control (n=11).

Home based exercise DVD [flexibility, endurance, balance] with support; 3x week/ 8 weeks; 1 home visit, weekly telephone calls

Significant improvements in a range of clinical outcomes including mUHDRS after intervention.

Kloos et al 2010 [abstract]

Randomised controlled trial

20 subjects with manifest HD; intervention (n= 12)/ control (n=8).

Video game (Dance Dance Revolution (DDR )) for 45 min 2×/week for6 weeks in subjects’ homes with the help of a researcher.

Significant improvements in the four-square step test after intervention.  

Ekwall et al 2010 [abstract]

Individual- case control study

12 subjects with early to mid stage HD.

Outpatient exercise programme focused on transitions and balance training; 2 times a week for 6 weeks.

Significant improvements in the BBS.

Zinzi 2007 Individual- case control study

40 subjects with early to mid stage who had acceptable cognitive ability and had no severe psychiatric disease.

Combination of occupational therapy, speech therapy, cognitive rehabilitation, respiratory exercises and physiotherapy exercises for three weeks of admission period repeated 3 times a year.

Each 3 week period resulted in significant improvement in the Tinitti and the PPT scales.No carry over effect of improvement to next admission but no motor decline over 2 years.

What did physiotherapists say about their practice?

• people are not referred early on in disease process

• insufficient information available to guide practice

• more systematic studies of physiotherapy required

• validation of appropriate objective outcomes

Busse ME, Khalil H, Quinn L , Rosser AE (2008) Physical Therapy Intervention for Patients with Huntington’s disease. Physical Therapy

88 (7) 820-831

European Huntington's Disease Network Physiotherapy Working Group

Forum for collaboration and sharing of good practice, conducting research & developing guidelines for physiotherapy

Network of 35 clinically and research active physiotherapists from Italy, Germany, Austria, Sweden, Finland, Switzerland, Portugal, Netherlands, UK and USA

First meeting Spring 2008, further meetings February 2009, September 2010, June 2011; regular phone conferences

2 main projects: outcome measures and developing guidance for physiotherapy

EHDN Outcome Measures Project

• 80 subjects – pre-manifest, manifest; testing twice, 1 week apart, on various outcome measures: 6 minute walk, 10 m walk, Tinetti, Berg, PPT, Barthel

• 6 centres – Ohio (completed), Cardiff (completed), Oxford (in progress), Manchester (in progress), Birmingham (in progress), London (await Registry 3 approvals), Southhampton (in progress),Lisbon, Ohio

• 38 subjects enrolled and completed data collection• reliability and minimal detectable change of relevant

outcome measures for physiotherapy

Manifest HDVariable ICC SEM MDC

6MW 1min distance 0.951 4.459372 12.360756MW 3min distance 0.938 14.81968 41.078076MW 6min distance 0.952 27.77362 76.9845510m walk 0.942 0.852056 2.3617810m walk steps 0.898 1.216963 3.373251TUG 0.984 0.659545 1.828166PPT 0.977 1.378405 3.820743Berg Balance Scale 0.963 1.480203 4.102913Tinetti Balance 0.981 0.584808 1.621004Tinetti Gait 0.966 0.514782 1.426902Tinetti 0.983 0.77201 2.1399044Square step test 0.88 3.223818 8.935967Rhomberg total 0.876 13.8176 38.30043

How will this study change clinical practice?

1. how do people with HD differ in various measures across the stages of the disease?

2. which outcome measures should be used?• reliable and valid• minimum detectable change…what is a

meaningful improvement?

3. facilitate audit

4. inform research trials• physiotherapy• pharmacological

Aims of the Guidance Document

1. inform optimal management

2. facilitate international uniformity of care

3.summarise available literature

4.highlight areas within practice that lack a scientific evidence base

5. inform future research

Dissemination and Evaluation

• freely available online at EHDN website• 2000 copies distributed to all EHDN

REGISTRY sites; posted to Physiotherapy Schools at all UK universities; disseminated at conferences & on request

• positive feedback from recipients; needed “quick reference version”

EHDN Physiotherapy Framework

Stage of Condition

Classification of function

Main problems

Main goal

Management strategy

Pre-Symptomatic

Pathology

No signs & symptoms

Delay the onset of mobility restriction

Preventative

Early to Early Middle

Impairments

BalanceWeakness of stabilizing musclesDystoniaDecreased range of motionChoreic movements

Maintain function

Restorative

Late Middle to Late

Activity limitations & participation

FallsMobility problemsPostural changesPainRespiratory Problems

Limit impact of complications

Supportive

More about physical impairments in HD

• exercise capacity and performance• planning and sequencing of tasks (including

bradykinesia)• mobility, balance and falls risk• secondary adaptive changes and deconditioning• abnormal posturing [seating and bed

positioning; manual handling]• respiratory dysfunction• palliative Care

Physiotherapy management in HD

• physiotherapy role develops in response to the clinical need

over the prolonged course of the illness; it is important for

physiotherapists to consider the cost implications of their

services throughout a life-long disease; • therapists should act in an advisory capacity to patients from

an early stage, and provide more intensive intervention

when a change in functional status warrants this;• interventions will initially be preventative, and gradually

become restorative and supportive

Physiotherapy management in HD

• palliative care services have an important role in helping people with HD and their families to prepare for the later stages of HD;

• early intervention is important to aid the clinical reasoning process and a collaborative partnership along the spectrum of the disease

• potential for use of diagnostic classification systems

Decision making for physiotherapists in HD

• patient centred approach• mechanism for clinical decision making =

identifying main problems; developing plan of care

• functional assessment and task analysis• main causes of functional difficulty• physiotherapy diagnosis: cluster of signs and

symptoms with linked appropriate intervention strategies

Sahrmann 2006

Participation

Activities

Impairments

Health Condition

Physiotherapy Assessment

Diagnostic category/Treatment based

classification

George & Delitto 2005; Fritz et al 2007; Scheets et al 2007

Diagnostic classifications

1. readily accessible and translatable synopsis of patient management strategies for clinicians unfamiliar with the disease

2. different management based on stages of disease but also according to specific patient problems; use categories to provide detailed outline of suggested rehabilitation treatment strategies

3. facilitate audit• environment (infrastructures; services) • process (patient experiences; what evaluations; timing;

goal setting; interventions; documentation)• outcomes

Developing Diagnostic Classifications

1. Generate hypothesis – tentative diagnosis

2. Use deduction to determine specific signs or symptoms that should be present

3. Therapists in clinical settings use diagnostic categories to evaluate patients, provide feedback to refine categories

4. Based on these signs and symptoms in each diagnostic category, specific treatment protocols are developed based on theory and evidenced practice

5. Test out effectiveness of intervention strategies (single cases to randomised studies)

Classification Description Stages

Exercise Capacity and Performance

Absence of motor impairment; potential for cognitive and/or behavioural issues

Presymptomatic/early

Planning and sequencing of tasks

(including bradykinesia)

Difficulty and slowness in performing functional activities (dressing, bathing, ADLs, sit to stand, etc). Presence of apraxia or impaired motor planning; slowness of movement and/or altered force generation capacity

Early-mid

Mobility, Balance and Falls Risk

Ambulatory for community and/or household distances; balance, strength or fatigue resulting in falls or high risk for falls

Early-mid

Secondary adaptive changes and de-

conditioning

Musculoskeletal and/or respiratory changes resulting in decreased participation in daily activities

Early-mid

Abnormal posturing [seating and bed

positioning; manual handling]

Inappropriate alignment due to adaptive changes, involuntary movement, inability to facilitate or coordinate movement

Mid-late

Respiratory dysfunction

Impaired respiratory function and capacity; limited endurance; impaired airway clearance; risk for infection

Mid-late

Palliative Care People who are in advanced stages of disease; unable to ambulate; dependent for most ADLs; difficulty maintaining upright sitting position; range of motion and pulmonary issues

Late

A. Exercise Capacity and Performance

Description: Absence of motor impairment or specific limitations in functional activities; potential for cognitive and/or behavioural issues Stage: Pre-manifest/early

Signs and Symptoms SymptomsParticipation: possible quality of life changes

Activities: no problemsImpairments: Potential for: early gait changes, poor endurance or fitness; mild chorea; cognitive and/or behavioural issues; poor endurance and limited physical activity; lack of motivation and/or apathy; anxiety and/or depression; sleep disturbance which may exacerbate the above impairments

AimsHealth education and advice including general health promotion strategies, referral for exercise on a prescriptive plan, and agenda setting to optimise exercise performance. Patient & family education on the importance of early intervention in HD. In animal models of HD, early enrichment of the environment (i.e., exercise) was shown to delay symptom onset and severity. Increased physical activity in HD mice was critical for successful outcomes of disease modifying treatments such as cell transplants, reconnection of grafted tissue and dopamine innervations.

TreatmentsBaseline testing for fitness level should be completed prior to exercise prescription. Consider education on fatigue and the timing of intervention/exercises during the day as well as careful instruction on safety during exercise.

Identify barriers and facilitators to initiate and maintain an exercise programme. Techniques such as behavioural motivation can be used to help patient identify barriers and facilitators and explore strategies to manage them. Involvement of a caregiver/friend/spouse can make the programme more successful.

Gym based exercises can be of benefit to physically-able individuals, as well as people with long term neurologic conditions such as Parkinson’s Disease. Small case reports in HD indicate that if properly supported, people with HD can enjoy the health benefits of physical activity. Interestingly, there is underutilization of PT services in early-stage HD.Exercise in early stage HD should include:

·Individualized goal setting and home exercise programme prescription for optimization of services in a life-long disease process.

·A focus on task-specific functional activities incorporated into the exercise programme. ·A warm-up and cool-down.·Careful monitoring of vital signs, dyspnoea, fatigue, pallor, dizziness and specific HD-related signs at rest, during and after exerciseFrequency, intensity, duration and mode are dependent on the baseline fitness level of the individual; however, focus should be on the ACSM goal of exercise for both aerobic and strength training. [19]Aerobic exercise:

Frequency: 3 to 5 times a week; Intensity: 65% to 85% of the maximal heart rate; 55% to 65% of maximal heart rate for de-conditioned individuals; Duration: at least 30 minutes of continuous or intermittent training per day (minimum of 10-minute bouts accumulated throughout the day); Mode: any activity that the individual enjoys that uses large muscle groups which can be maintained continuously and is rhythmic and aerobic in nature (e.g. walking, jogging, swimming, and biking).

Nutrition: assessment and management of caloric intake, dietary needs and changes to diet when exercising. Psychology: assessment and management of behavioural issues. Occupational Therapy: assessment and management of ADL-related deficits.

Interdisciplinary

Outcome Measures: PAR-Q: The Physical Activity Readiness Questionnaire (PAR-Q) can be utilised as an initial screening method to determine any contraindications to exercise. If any reason to doubt safety in participating in exercise, the physiotherapist should refer persons to their general practioners (GPs) for a full assessment . IPAQ: International Physical Activity Questionnaire: is a useful questionnaire for obtaining information about weekly activity levels at home, work and leisure. It is reliable and valid in 18-65 year old healthy adults as an epidemiological measure. It is not valid as a measure of change or to assess the effects of an intervention . Activity Monitor: if available, a useful measure of physical decline in HD as hypokinesia is related to functional capacity in HD. May also be used to show change in activity over time.

Outcome Measures

C. Mobility, Balance and Falls Risk

Description: Ambulatory for community and/or household distances; balance, strength or fatigue resulting in falls or high risk for falls

Signs and Symptoms SymptomsParticipation: Fear of falling: unwillingness to

participate in home, work, and community activities Activities: Difficulty walking in certain environments or while doing secondary task ; turning and changing directions ; getting in and out of chairs and beds Impairments: Bradykinesia ; Dystonia – affecting trunk (lateral shift; extension), ankles/feet (inversion); chorea*/ rigidity ; muscle weakness or impaired force production; impaired motor control (i.e., force modulation deficits causing sudden exaggerated movement changes; impaired eccentric motor control); gait impairments (decreased speed; stride length; stride width, increased variability in gait parameters); cognitive and behavioural deficits; deficits in spatial perception; visual disturbances; fatigue.

.

TreatmentsImpairment focussed exercises: strengthening; general conditioning; endurance; range of motion activity to counteract effects of dystonia; coordination exercises; teach strategies to help people with HD identify when fatigue would increase their risk of falls; Balance training to practice the maintenance of postural control in a variety of tasks and environments; practice of activities that require automatic responses (e.g., throwing ball) to elicit postural responses and train faster movements [ progress activities from wide to narrow BOS, static to dynamic activities, low to high COG, increasing degrees of freedom] Task-specific practice of functional activities such as transfers, reaching high and low, stair climbing, etc. To train balance control during activities of daily living; task specific training to address walking tasks, ideally in specific environments (e.g. outdoor; obstacles and changing speeds/ directions); external cueing: lines on floor to promote step initiation, bigger steps, faster speed and symmetry, consider verbal cues (metronome) Teach strategies as to how to get up from floor if they fall; safety awareness and adaptation of environment (reduce clutter, slippery surfaces, loose rugs, poor lighting, sharp or breakable objects), furnitureProvision of assistive devices (4 wheeled walker with brakes) when appropriate; family/carer education for guarding and/or assistance during ambulation; wheelchair prescription (long distance mobility. Adaptive devices/equipment: footwear: shoe/orthotic evaluation (shoes with ankle support such as high top tennis shoes or boots; heel wedge and/or lateral wedge for ankle dystonia in inversion/eversion direction; ankle foot orthosis for ankle dystonia in dorsiflexion/plantarflexion direction; custom made shoe inlay for individuals with clawing of toes during walking)Protective equipment – helmets, elbow/knee pads to be worn by person with HD at risk for fallsCompensatory strategies (cognitive impairments and inability to dual task); focus attention on maintaining balance before doing a task that challenges their balance ; practice two activities at same time under various practice and context conditions in early stages; break down complex tasks into simpler tasks and where necessary attend to one task at a time in middle to late stages

Interdisciplinary Participation: Short Form-36 Activities: 10m walk ; TUG; 6MWT; ABC Falls Confidence scale; Berg Balance ; Tinetti Mobility Test; Dynamic Gait Index; Functional reach test; Assessments of different devices and equipment used during functional activities including the safety during use, alignment, fit, and the patient’s ability to care for the devices or equipment Impairments: gait spatial and temporal measures; falls history; UHDRS motor section

Outcome Measures

Improve mobility status (increase independence; increase speed; increase distance walked); reduce risk of falls or actual falls; maintain independent mobility including transfers and walking for as long as possible; manage fear of falling which in itself may cause inactivity

nursing, OT, neuropsychologist, neurologist, social work

Aims

Adaptive Equipment

Walking aids: 4 wheeled walker with front swivel castors produces the most efficient, consistent, and safe gait pattern in individuals with HD both on a straight path and during turns

Kegelmeyer & Kloos (in press)

AFOs/ specialised footwear improves gait measures in HD Bunnig et al (pilot study)

EHDN falls policy

• loss of independent ambulation and extended bed rest can have significant emotional & physical effects [respiratory functioning, muscle atrophy & weakness & depression]; highly associated with nursing home admission

• in one residential facility (72 patients) with HD, 823 falls recorded in one-year

• average number of falls per person per year was 3.0; but there were 3 multiple fallers, falling up to 5 times per day

• in this institution, a policy of not limiting mobility in the presence of risk of falls had been implemented: only 4 of these falls resulted in fractures (0.5% injury rate)

EHDN falls policy

• incidence of falls/ high risk for falls should not be the sole criteria for limiting a person's ambulatory status

• patient-carer team should consider the potential benefits & risks associated with limiting independent ambulation i.e. secondary effects of non-ambulation

• risk should be managed and strategies implemented to reduce the risk

• maintain independent mobility and prevent injury: • environmental modification (hip protectors, resilient flooring, removal of

sharp edges etc.) • footwear• evaluation and interventions to promote the safe performance of daily

activities• behavior management

Multi-disciplinary team working

• diagnostic classifications give a structure to aid working between professions

• assist in appropriate profession specific referrals by physiotherapists

• similarly members of the MDT may identify specific problems as shown in the 7 classifications developed by EHDN PWG and request relevant physiotherapy input

• crucially, the classification systems are in place but their effectiveness in guiding decision making is as yet untested (evaluations underway, contributions welcome)

AcknowledgmentsEuropean Huntington’s Disease Network (EHDN)EHDN Physiotherapy Working Group membersDr Lori Quinn: co-lead facilitator Physiotherapy WGProfessor Anne Rosser: Cardiff HD clinic Kathy Price; Catherine Clenaghan; Matt Caffyn; Cardiff HD clinicDeb Kegelmeyer & Anne Kloos: Ohio State University, USAKaren Bunnig & Jessie van der Bent: Topaz Overduin, NetherlandsHanan Khalil: Move to Exercise ProgrammeUna Jones: Respiratory Function in HDKaty DeBono: COMMET-HDProfessor Helen Dawes: Oxford Brookes University