ࡱ> !<> !"#$%&'()*+,-./0123456789:; Bbjbj KXڑyLL"""###D###q$<&#.05F6(G6G69j BE\$# GM9"o9" G G""G6G6fff G"G6#G6f Gff`m#@.G6 j2#bp\n0z=cc=.=#.@ G Gf G G G G Gf G G G G G G G= G G G G G G G G GL U!:  EUROPEAN HUNTINGTONS DISEASE NETWORK PHYSIOTHERAPY GUIDANCE NOTES July 2008 Draft for consultation at EHDN Plenary meeting, Lisbon These guidance notes have been written on behalf of the EHDN Physiotherapy Working Group by Charmaine Meek, Lori Quinn, Helen Dawes, Ruth Sands and Monica Busse Aims of the guidance notes The aims of the Physiotherapy for People with Huntingtons disease (HD) guidance notes are: To provide, where possible, a scientific evidence-based document to inform the optimal, individualised physiotherapeutic management of people with HD To provide a written framework for the physiotherapeutic management of people with HD, allowing international uniformity of care To highlight the scientific evidence for physiotherapy practice for people with HD, evaluating the effectiveness of intervention strategies presented in the literature to allow practitioners to make an informed decision regarding patient care To highlight areas within practice that lack a scientific evidence base to inform future research Professional target group These guidance notes have been written to provide information for all physiotherapists that come into contact with people with HD. Due to the complexity of the disease, it is beneficial to have some training in this area before treating people with HD to ensure optimal patient management. As HD is a rare condition, physiotherapists may not have the opportunity to build up experience and expertise; this document may therefore provide a starting point for those new to working with the condition. This document will also be useful for health care practitioners and physicians who require an overview of the physiotherapists role within HD to ensure referral occurs in an appropriate and timely manner. Production of these guidance notes These guidance notes have been created through a combination of available scientific evidence and expert consensus. To uncover the relevant evidence, a systematic approach to gathering literature was employed. This involved setting inclusion/ exclusion criteria, utilising search terms, combining keywords and analysing abstracts to produce relevant articles (see Appendix 1 for literature review strategy and article summaries). The available scientific evidence has been summarised, where relevant, throughout the guidance notes. Due to the paucity of scientific evidence, recommendations were also formulated based on expert consensus from within the European Huntingtons Disease Network (EHDN) physiotherapy guidelines development working group (namely the aforementioned authors of this document). Following completion of the initial draft document, the guidance notes were disseminated to all members of the EHDN physiotherapy-working group. Amendments were made to the document according to the overall consensus of members comments. Table of Contents TOC \o "1-3" \h \z \u   HYPERLINK \l "_Toc205037646" Table of Contents  PAGEREF _Toc205037646 \h 4  HYPERLINK \l "_Toc205037647" 1. OVERVIEW  PAGEREF _Toc205037647 \h 6  HYPERLINK \l "_Toc205037648" 1.1 Pathophysiology of HD  PAGEREF _Toc205037648 \h 6  HYPERLINK \l "_Toc205037649" 1.2 Epidemiology  PAGEREF _Toc205037649 \h 6  HYPERLINK \l "_Toc205037650" 1.3 Natural course  PAGEREF _Toc205037650 \h 6  HYPERLINK \l "_Toc205037651" 1.4 Drug Management  PAGEREF _Toc205037651 \h 9  HYPERLINK \l "_Toc205037652" 2. ROLE OF THE PHYSIOTHERAPIST AND THE POTENTIAL BENEFITS OF PHYSIOTHERAPY  PAGEREF _Toc205037652 \h 11  HYPERLINK \l "_Toc205037653" 2.1 The role of the physiotherapist and the potential benefits of physiotherapy  PAGEREF _Toc205037653 \h 11  HYPERLINK \l "_Toc205037654" 3. PHYSIOTHERAPY EVALUATION  PAGEREF _Toc205037654 \h 12  HYPERLINK \l "_Toc205037655" 3.1 Overview  PAGEREF _Toc205037655 \h 12  HYPERLINK \l "_Toc205037656" 3.2 A Framework for conducting Physiotherapy Evaluations in HD  PAGEREF _Toc205037656 \h 14  HYPERLINK \l "_Toc205037657" 3.3.1 Reason for Referral  PAGEREF _Toc205037657 \h 14  HYPERLINK \l "_Toc205037658" 3.3.2 Social History and Participation Restrictions  PAGEREF _Toc205037658 \h 14  HYPERLINK \l "_Toc205037659" 3.3.3 Limitations in Functional Activities  PAGEREF _Toc205037659 \h 15  HYPERLINK \l "_Toc205037660" 3.3.4 Impairments in body structure and function  PAGEREF _Toc205037660 \h 16  HYPERLINK \l "_Toc205037661" 3.3 Goal setting  PAGEREF _Toc205037661 \h 21  HYPERLINK \l "_Toc205037662" 3.4 Plan of Care  PAGEREF _Toc205037662 \h 22  HYPERLINK \l "_Toc205037663" 3.5 The Physiotherapy Assessment  PAGEREF _Toc205037663 \h 22  HYPERLINK \l "_Toc205037664" 4. PHYSIOTHERAPY MANAGEMENT/TREATMENT  PAGEREF _Toc205037664 \h 23  HYPERLINK \l "_Toc205037665" 4.1 A framework for physiotherapy management of people with HD  PAGEREF _Toc205037665 \h 23  HYPERLINK \l "_Toc205037666" 4.2 Early referral to physiotherapy  PAGEREF _Toc205037666 \h 23  HYPERLINK \l "_Toc205037667" 4.3 Specific problems and potential treatment strategies  PAGEREF _Toc205037667 \h 25  HYPERLINK \l "_Toc205037668" 4.4 Procedural interventions  PAGEREF _Toc205037668 \h 25  HYPERLINK \l "_Toc205037669" 4.4.1 Balance, co-ordination and core stability training.  PAGEREF _Toc205037669 \h 25  HYPERLINK \l "_Toc205037670" 4.4.2 Functional and task-specific training  PAGEREF _Toc205037670 \h 27  HYPERLINK \l "_Toc205037671" 4.4.3 Gait Training  PAGEREF _Toc205037671 \h 28  HYPERLINK \l "_Toc205037672" 4.4.4 Sensory cueing  PAGEREF _Toc205037672 \h 28  HYPERLINK \l "_Toc205037673" 4.4.5 Adaptive equipment  PAGEREF _Toc205037673 \h 28  HYPERLINK \l "_Toc205037674" 4.4.6 Protective techniques  PAGEREF _Toc205037674 \h 29  HYPERLINK \l "_Toc205037675" 4.4.7 Airway Clearance Techniques  PAGEREF _Toc205037675 \h 29  HYPERLINK \l "_Toc205037676" 4.4.8 Other Procedural Interventions  PAGEREF _Toc205037676 \h 30  HYPERLINK \l "_Toc205037677" 4.5 Exercise for people with HD  PAGEREF _Toc205037677 \h 30  HYPERLINK \l "_Toc205037678" 5. OUTCOMES  PAGEREF _Toc205037678 \h 33  HYPERLINK \l "_Toc205037679" 5.1 Overview  PAGEREF _Toc205037679 \h 33  HYPERLINK \l "_Toc205037680" 5.2 Choosing outcome measures  PAGEREF _Toc205037680 \h 33  HYPERLINK \l "_Toc205037681" 5.3 Relevant Outcome Measures  PAGEREF _Toc205037681 \h 34  HYPERLINK \l "_Toc205037682" 5.3.1 Limitations in Participation  PAGEREF _Toc205037682 \h 35  HYPERLINK \l "_Toc205037683" 5.3.2 Limitations in Functional Activities  PAGEREF _Toc205037683 \h 35  HYPERLINK \l "_Toc205037684" 5.3.3Measures of Impairments  PAGEREF _Toc205037684 \h 38  HYPERLINK \l "_Toc205037685" Appendix One: Review of available literature relative to physiotherapy in HD  PAGEREF _Toc205037685 \h 39  HYPERLINK \l "_Toc205037686" Appendix Two: Outcome Measures  PAGEREF _Toc205037686 \h 66  HYPERLINK \l "_Toc205037687" Appendix Three: Assistive devices and seating considerations for persons with HD  PAGEREF _Toc205037687 \h 86  HYPERLINK \l "_Toc205037688" Appendix Four: Application of exercise prescription principles: a case report  PAGEREF _Toc205037688 \h 93  HYPERLINK \l "_Toc205037689" Appendix Five: Suggestions for general physical conditioning activities  PAGEREF _Toc205037689 \h 97  HYPERLINK \l "_Toc205037690" Appendix Six: Frequently asked questions  PAGEREF _Toc205037690 \h 101  HYPERLINK \l "_Toc205037691" References  PAGEREF _Toc205037691 \h 104  1. OVERVIEW 1.1 Pathophysiology of HD HD is a hereditary neurodegenerative condition, characterised by autosomal dominance (1, 2). This means that the offspring of an affected parent have a 50% chance of inheriting the condition. The gene for HD, known as IT-15 or huntingtin, is located on chromosome four (3). In HD the gene expands due to an increased number of CAG repeats (36 repeats or more) (1). This leads to an abnormal coding for the protein huntingtin, a protein required for normal brain function. The mutated huntingtin contains an excess amount of glutamine units, resulting in cell dysfunction and eventually cell death within the brain. The neuronal cell loss within HD occurs primarily within the caudate nucleus and putamen of the basal ganglia; an area known to play an integral role in motor function. Degeneration is also noted within the cortex and thalamus (1). These changes result in the triad of motor, cognitive and psychiatric symptoms displayed in HD. 1.2 Epidemiology A review of the epidemiology of HD has revealed an overall prevalence within Europe of between 4-8 per 100,000 (4). The average age of onset has been reported as 40.87 years and the average age of diagnosis as 44.4 years (5). Symptomatic onset is most likely to occur between 30-60 years of age (5, 6). However, it is recognised that people may become symptomatic anywhere between 1-80 years of age (7), with studies reporting between 7-10% of cases occurring before the third decade of life (5, 8) (juvenile HD), and between 10-37% of cases occurring after 59 years of age (5) (late onset). Disease prevalence appears to be slightly higher in women than in men (5, 6). There are approximately 4.7 new cases of HD per million every year (6). The mean duration of the disease is 17 years from diagnosis to death, although this may vary greatly from 2 to 40 years (8). 1.3 Natural course HD is divided into four approximate stages. Pre-manifest A person who has a positive genetic test for the HD gene, but has not yet developed any clinical signs of HD (such as involuntary movements) is considered to be pre-manifest. Clinical diagnosis is defined currently by the presence of motor signs; however other symptoms may occur prior to the development of motor signs. The prodrome is an early non-specific symptom (or set of symptoms) indicating the start of a disease before specific symptoms occur. In HD, the prodromal phase can be considered to be indicative of some neuronal dysfunction, although not indicative of cell death. The onset of these symptoms is insidious with no single presenting sign or symptom (9), and is often dependent on the sensitivity of the testing for evaluation of the symptoms. Cognitive deterioration occurs slowly and it may become apparent during complex thinking tasks (3). Personality and emotional changes may also be evident through uncharacteristic aggression, irritability and depression (10, 11). There is increasing support for early intervention where an impact may be made on biological processes and hence the natural history of the condition. Figure 1: The pre-manifest and prodromal stage in Huntingtons disease   Early stage Movement disorders include minor involuntary movements, reduced coordination, and slight changes in muscle tone (increased) (9). Within the early stages, people remain relatively functional and independent, often retaining their ability to work and drive (3). Middle stage During the middle stages of HD, involuntary movements such as chorea increase, dystonic postures might be present and voluntary motor tasks may become increasingly difficult (9). People may have increased difficulties with balance and may experience frequent loss of balance and falls. Weight loss can occur due to impaired swallowing function (3, 9). Cognitive tasks become more difficult through a reduced ability to sequence and organise information (3). People may no longer be able to work or drive and often will need assistance when performing some activities of daily living (ADL) (3). Late stage In the advanced stages motor symptoms continue to progress, severely limiting mobility. Choreic and dystonic movement may further increase (see Figure 2), but involuntary movements are often overshadowed by Parkinsonian symptoms (3, 9). Swallowing function can deteriorate further and people will continue to lose weight. Impaired speech results in difficulties communicating, and cognitive and psychiatric deterioration may continue, but it is thought that patients retain some comprehension (3). At this stage most people will require assistance in all aspects of daily living, relying fully on nursing care (3). Despite the severity of the neurological disorder, the primary cause of death in HD is pneumonia and cardiovascular disease (12). Figure 2: Changes in chorea and voluntary movement with disease progression   1.4 Drug Management Medication may be used symptomatically to address behavioural or movement symptoms associated with HD. Typical medications utilised are summarised in Table 1 below. They can generally be grouped into three main classes, namely anti-choreic, anti-psychotic and anti-depressants. This table is provided for information only and dosages are purposely not provided; it is beyond the scope of physiotherapy practice to be involved with drug management. Any issues relating to drug management should be under the advice of the neurologist or clinician responsible for the medical management of that patient. Table 1: Main drug classes, examples and potential side effects Class of Drug (3, 13)Example MedicationsPotential side effectsAntichoreic main action Neuroleptics and atypical anti-psychotics Haloperidoldrowsiness, apathy, extra-pyramidal symptoms, dystonia, akathisia (restlessness), hypotension, dizziness, headache, imsomnia constipation, dry mouth, weight gain, tardive diskinesiaFluphenazine Risperidone Olanzapine Benzodiazepines Clonazepam; Diazepam; Temazepamsedation, ataxia, apathy, withdrawal seizures, fatigueDopamine Depleting Agent Tetrabenazine hypotension, drowsiness, depression, gastro-intestinal disturbance, extra-pyramidal symptomsAntipsychotic main actionOlanzapine drowsiness, apathy, akathisia (restlessness), hypotensionHaloperidol drowsiness, apathy, extra-pyramidal symptoms, dystonia, akathisia, hypotension, constipation, dry mouth, weight gain, tardive diskinesiaRisperidone Sleep disturbance, agitation, anxiety, restlessness, headacheFluphenazine sedation, extra-pyramidal symptoms, dystonia, akathisia, hypotension, constipation, dry mouth, weight gainAntidepressant main action Selective Serotonin Reuptake Ihibitors Fluoxetine; Sertraline; Paroxetine insomnia, diarrhoea, gastro-intestinal upset, restlessness, weight loss, dry mouth, anxiety, headacheTricyclics Nortriptyline, Amatryptiline dry mouth, blurred vision, constipation, hypotension, tachycardia, sedation, nausea 2. ROLE OF THE PHYSIOTHERAPIST AND THE POTENTIAL BENEFITS OF PHYSIOTHERAPY 2.1 The role of the physiotherapist and the potential benefits of physiotherapy Physiotherapy is recognized as a health care profession, which utilizes physical approaches to promote, maintain and restore physical, psychological and social well-being (14). The physiotherapist aims to promote quality of life and independence by encouraging activity and providing support within functional tasks (15). Physiotherapy is also focused on safety and interventions may be aimed at the prevention of falls (15). The beneficial role of physiotherapy within basal ganglia disorders has been previously illustrated within Parkinsons disease (PD), with two recent systematic reviews reporting that physiotherapy can improve multiple factors including physical functioning, health-related quality of life (HR-QoL), strength, balance and gait (16, 17). The literature in support of physiotherapy for people with HD is less clear. Two systematic reviews have noted that there is a small amount of evidence supporting physiotherapy within HD, but this is somewhat overshadowed by poor methodological rigour, small sample sizes, unclear selection criteria resulting in potential heterogeneity in participant groups, and a lack of follow-up (18, 19). More supportive evidence is continually becoming available. For example, a before-after trial with a sample size of 40 found an intensive rehabilitation programme of 6 sessions per week, held over 3 weeks demonstrated an improvement in motor function over the two year period (20). Furthermore, physiotherapy for people with HD is supported by positive findings from environmental enrichment studies in mice. Mice with HD, placed within an environment providing physical, mental and social stimulation, have a slower disease progression, and maintain motor function for longer (21, 22). Based on these studies and the biological rationale, there is a place for physiotherapy within the management of people with HD. In-depth efficacy studies are still required. In the interim, these guidance notes, which provide a written framework for the physiotherapeutic management of people with HD, hope to provide international uniformity of care that allows practitioners to make an informed decision regarding patient care. 3. PHYSIOTHERAPY EVALUATION 3.1 Overview The important components of a physiotherapy evaluation for people with HD include descriptive evaluations (namely describing the nature of problems at the level of participation, function and body structures), and discriminative evaluations (i.e distinguishing normal from abnormal function). The later is particularly important for people in pre-symptomatic stages. Evaluative assessment is also important in terms of providing baseline measurements for future comparisons (see Section 5: Outcome Measures for a discussion of relevant evaluative measures) The EHDN Physiotherapy Working Group recommends using the International Classification of Functioning, Disability and Health (ICF) (23) to structure a patient assessment (see Figure 3). We provide an Evaluation Framework (described below) for conducting evaluations for patients with HD following the ICF framework. This framework describes aspects of a persons health and health-related well-being in terms of Participation Restrictions, Limitations in Functional Activities, and Impairments in Body Structure and Function (24). It supports the description of function and disability under two headings, namely Activities and Participation - This section allows description of the tasks (activities) and/ or life situations (participation) the person wishes to be involved in, and the impact the impaired body function/ structure is having on these aspects. Body function and structure This allows description of body structures, or functions of said body structure, which are showing impairment. Figure 3: International classification of Functioning, Disability and Health (ICF)  The ICF further takes into consideration the contextual factors (both environmental and personal factors), which also impact on and shape a persons life, and notes how these feed into the body function/ structure, activities and participation sections. The ICF can be utilised as a model for a clinical subjective and physical examination to ensure a holistic assessment takes place. For additional reading on physiotherapy assessment procedures, please see Susan Edwards (2002) Neurological Physiotherapy: A Problem-solving Approach, 2nd edition Elsevier, Darcy Ann Umphred (2007) Neurological Rehabilitation, 5th Edition Mosby or Susan B. O'Sullivan, Thomas J. Schmitz (1994) Physical Rehabilitation: Assessment and Treatment F.A Davis 3.2 A Framework for conducting Physiotherapy Evaluations in HD The evaluation framework for people with HD following the ICF model is adapted by work from Quinn & Gordon (2003) (24). It is structured to include those areas that we recommend evaluating in most people with HD, and what should be documented in an evaluation report. We have also provided specific guidance for evaluation procedures not commonly used (e.g. evaluation of dystonia). 3.3.1 Reason for Referral In this section, the therapist obtains information pertaining the patients diagnosis and medical history. This should include when the patient was diagnosed with HD, and should outline the reason that physiotherapy services are being sought at this time. This section also includes current medications and can include family history. Specific components can include: Patient information and demographics Current condition: concerns that led the patient to seek services of physiotherapist; current and prior therapeutic interventions; current stage of HD and age of onset Past medical history: prior hospitalizations, surgeries and pre-existing medical and other health-related conditions; family history Medications: identify and report any medications taken for HD symptoms as well as for other medical conditions NB: In multi-disciplinary specialty HD clinics, it may be unnecessary to document all of this information, if it has previously been documented by other members of the management team and if the information is readily accessible to the physiotherapist. 3.3.2 Social History and Participation Restrictions The background history allows the physiotherapist to gain subjective information on the patients presenting problem(s) and places this information in the context of their past medical history and current condition. It also documents how their presenting problem(s) may affect their ability to live independently and within society, allowing the practitioner to address the patient holistically. This section of the assessment provides the opportunity to build a therapeutic, collaborative relationship, enabling the patient to voice their expectations of physiotherapy, whilst the physiotherapist ensures realistic goals are set based on these expectations. It must be noted that the patients caregiver(s) should be involved within this part of the assessment, particularly if the patient has difficulties communicating through cognitive or physical impairment. This section can specifically include: Home environment (living environment and community characteristics): family and living situation; family and caregiver resources; devices and equipment (e.g. assistive, adaptive, orthotic). Employment/work (current work situation and requirements of position) Health status (prior functional status in self care and home management): including Activities of Daily Living (ADLs) and Instrumental Activities of Daily Living (IADLs). Community, leisure and social activity participation General health perception/quality of life Physical function (e.g. mobility, sleep patterns, restricted bed days) Psychological function (e.g. memory, reasoning ability, depression, anxiety) Behavioural health risks (e.g. smoking, drug abuse) Level of physical fitness 3.3.3 Limitations in Functional Activities For each functional activity, therapists should evaluate and document the level of assistance or caregiver burden needed to complete the task, and also determine the patients skill level (e.g. time to complete task, consistency of task performance, etc). This section can include any of the following subheadings or skills, as appropriate: Self-care and home management (including activities of daily living [bed mobility; dressing; self care; toileting; bathing; eating; cooking, preparing meals and instrumental activities of daily living) Assistive and adaptive devices Environmental, Home, and Work (Job/School) barriers Listing of specific skills assessed (e.g. ambulation, sitting ability, standing ability, sit to stand, wheelchair skills, stair climbing, feeding, bed mobility). Therapists should evaluate and document the functional performance of skills that are pertinent to the person with HDs independence. 3.3.4 Impairments in body structure and function A systems review should include neuromuscular, musculoskeletal (posture, range of motion, pain and muscle strength) and cardio-respiratory and cardio-vascular evaluation with documentation of any associated impact upon functional abilities. 3.3.4.1 Neuromuscular Evaluation Evaluating neuromuscular impairments is important in people with HD in order to help therapists understand what factors are contributing to a patients functional problems. However, it should be noted that not all impairments directly relate to presenting functional limitations. For example, while most people with HD have chorea, it is typically not the primary impairment contributing to difficulties with ambulation. Bradykinesia and balance impairments may be better predictors of ambulation difficulties and falls (25). Dystonia is defined as abnormal, sustained posturing of any part of the body. A therapist can observe dystonia when a patient is sitting or standing (26) and in movements such as shoulder elevation, foot inversion and supination and trunk extension. Chorea is defined as involuntary, writhing movement. In the early stages of HD, it is typically seen in the fingers, hands and face muscles. As the disease progresses, it can be seen throughout the body, including in all four extremities and the trunk. The severity of chorea (maximal chorea) can be rating on the UHDRS Motor Rating Scale (score 0-4) where 0 is absent; 1 is slight/intermittent; 2 mild/common or moderate/intermittent; 3 is moderate/common and 4 is marked/prolonged. Balance problems typically occur in the early-mid stages of the disease, which interfere with their ability to walk and maintain an upright position. Balance can be assessed by measuring proactive (e.g. reaching ability) and reactive balance (e.g. response to external perturbations). Scales such as the Berg Balance Scale or the Tinetti Balance Assessment are useful in quantifying the degree of balance impairment and providing some insight into the nature of the balance impairments. Common conditions under which patients demonstrate balance problems include (18, 27) decreased base of support; tandem standing and walking; dual tasks; eyes closed and response to external perturbations (i.e. retropulsion pull test). Vision: People with HD often have visual impairments; in particular they have difficulty with saccadic eye movements and with smooth pursuit. This can frequently be seen in the early stages of the disease. Visual impairments can have a significant impact on balance and walking ability, and thus therapists should have an understanding of the nature of a patients problems. It may be useful for therapists to obtain this information from the UHDRS Motor section, which assesses both saccades and smooth pursuit in horizontal and vertical directions. Bradykinesia is defined as slowness of movement. Even though people with HD appear to be in constant movement, their underlying volitional movements during task performance has been found to be slower than healthy controls for reaching (28) (Quinn et al., 2003) and ambulation (29, 30). Bradykinesia can typically be evaluated by measuring time to complete a task (movement time). Akinesia is defined as delayed initiation of movement, and in research studies is typically measured by reaction time. In the clinic setting, it is often difficult to quantitatively evaluate akinesia, but delays in onset of movement for various tasks can be noted. 3.3.4.2 Musculoskeletal evaluation Consideration of posture, range of motion, muscle strength and pain and the impact on function needs to be undertaken. Posture and range of motion: Standard assessment of posture and range of motion should be performed for all patients with HD, both in sitting and standing positions. Of particular importance is the impact upon function and positioning during the performance of activities of daily living. Furthermore the impact on assistive devices should be considered. Strength: Individuals with HD have been found to have lower limb muscular weakness compared to age matched controls (31). Strength can be clinically measured by manual muscle testing or by functional observation of strength during task performance (e.g. stair climbing or evidence of gait deviation during walking). Pain: People with HD can experience pain, particularly in the later stage of the disease. The source of this pain can be unknown; however dystonia or mucle imbalances can often cause musculoskeletal pain. Excessive chorea can cause pain if people injure themselves by hitting their arm or leg into an object or hard surface. Some people may have pain unrelated to HD, such as a previous low back condition. When possible, therapists should ask people to rate their pain on a scale of 0-10 (0 being no pain; 10 being excruciating pain), and to describe the location and type of pain they are experiencing. 3.3.4.3 Cardio-respiratory and cardio-vascular evaluation Regular monitoring of respiratory function in people with Huntingtons disease may be necessary. Lung function tests may highlight obstructive or restrictive disorders of the respiratory system. Measurement of vital capacity in supine and upright positions can identify weakness of the diaphragm (32). Forced expiratory Volume in 1 second (FEV1), Forced Vital Capacity (FVC), FEV1/FVC ratio, Peak Expiratory Flow Rate (PEFR) should also be considered using standardised spirometry techniques (33). Dyspnoea can be assessed using Medical Research Council (MRC) dyspnoea scale for grading the degree of a patient's breathlessness. If a patient has a current respiratory problem, a specific respiratory assessment should be undertaken including Dyspnoea using a modified Borg scale, which may be more sensitive to change over the period of the episode than the MRC Scale. Effectiveness of cough and whether the patient able to clear secretions independently as well as problems with swallowing should also be considered. Breathing pattern, lung sounds (auscultation) and exercise capacity as well as tolerance (see Section 4.5) should be assessed objectively. Functional ability should also be assessed and in particular whether there have been any changes in what the patient can do functionally. Medical Research Council Dyspnoea Scale  for grading the degree of a patient's breathlessness Not troubled by breathlessness except on strenuous exercise Short of breath when hurrying or walking up a slight hill Walks slower than contemporaries on the level because of breathlessness, or has to stop for breath when walking at own pace Stops for breath after about 100 m or after a few minutes on the level Too breathless to leave the house, or breathless when dressing or undressing Note that dyspnoea is not a common symptom in people with neurological disease, but may be useful to monitor. Modified Borg Dyspnoea Scale Patient Instructions for Borg Dyspnoea Scale This is a scale that asks you to rate the difficulty of your breathing. It starts at number 0 where your breathing is causing you no difficulty at all and progresses through to number 10 where your breathing difficulty is maximal. How much difficulty is your breathing causing you right now? 0 Nothing at all 0.5 Very, very slight (just noticeable) 1 Very slight 2 Slight 3 Moderate 4 Somewhat severe 5 Severe 6 7 Very severe 8 9 Very, very severe (almost maximal) 10 Maximal 3.3 Goal setting The physiotherapy goals should be functional in nature, and should address specific functional problems or participation restrictions that are amenable to physiotherapy intervention. Goals should be focused on specific outcomes that are agreed upon by patient and therapist, and should be measurable and testable. Even though Huntingtons disease (HD) is a degenerative disease, it is still possible for physiotherapists to set goals such that functional performance will improve. For example, a patient may come to see a physiotherapist because they are falling or having difficulty walking. A therapist could write a goal that the patient will improve their speed of walking, or will walk with a certain assistive device, or will not experience falls in a 2-month period. Alternatively, another patient who is in the advanced stages of the disease may have difficulty maintaining an upright sitting position for eating and watching television. In this situation, a goal could be that the patient will maintain upright sitting for 20 minutes during eating while in adaptive seating system. The goals should be functional and participation-based, and typically should not be impairment-focused. Goals to decrease chorea or dystonia are not realistic for physiotherapy. Furthermore, amelioration of any particular impairment in HD may not translate into functional improvements, and therefore therapists should focus on functional gains while attempting to ascertain the influence various impairments have on functional limitations. 3.4 Plan of Care Developing and documenting a Plan of Care for a patient with HD should include the following: Coordination/communication - The therapist should describe all coordination or communication that needs to take place with other professionals, caregivers, or family members so that the physiotherapy plan can be implemented. This can also include referrals to other professionals. Patient-related instruction - This should include any instructions given to the patient or their caregiver, and any planned home program and patient/caregiver education. Procedural interventions This section should describe the specific physiotherapy procedures that will be conducted (e.g., gait training, balance training, ROM exercises, etc). 3.5 The Physiotherapy Assessment Assessment is the process of analyzing the result from the physiotherapy examination. In the assessment section of an evaluation report, the therapist writes a summary paragraph that includes the following: Summary statement of the patient and the diagnosis Statement describing patients functional limitations, key impairments contributing to those limitations and disabilities or potential disabilities that will result from those limitations Statement summarizing the patients potential to benefit from physiotherapy and the reasons why physiotherapy treatment is or is not indicated. 4. PHYSIOTHERAPY MANAGEMENT/TREATMENT 4.1 A framework for physiotherapy management of people with HD In terms of a general strategy for physiotherapy interventions, it is important to consider people at all stages of the disease, including those who are gene positive but not displaying motor symptoms. It is further suggested that physiotherapy management of people with HD should be modified according to individual problems and to the stage of the disease. The framework presented in Figure 4 provides an outline for intervention according to the stage of the condition and potential impairments (34). 4.2 Early referral to physiotherapy It is recommended that referral occur early in the disease (or even in the pre-manifest stage), a view supported by physiotherapists practising within HD (34), and within other basal ganglia disorders such as PD (35). Current intervention focuses on symptomatic management, however there is increasing support for early intervention where an impact may be made on biological processes with the potential to influence on the natural history of the condition (see Figure 1). In addition, early referral to physiotherapy for people with HD may be beneficial to people in a number of ways. It enables practitioners to ascertain a baseline for the patient, supports the establishment of a therapeutic relationship between the patient, practitioner and caregivers, and ensures early intervention in an attempt to maintain patient mobility and function for as long as possible (34). Figure 4: Conceptual Framework for Physiotherapy Intervention (34)  4.3 Specific problems and potential treatment strategies The main goals of physiotherapy intervention will generally change over time; procedural interventions will initially be preventative, and gradually may become restorative (see Figure 4). Towards the end stage, physiotherapy interventions will be compensatory and will aim to limit the impact of deterioration and prevent associated complications. When determining potential treatment strategies, it is important to firstly identify what the problem is and what the potential causes of the problem may be. For example, balance problems could be contributed to by involuntary movements or oculomotor problems, but also may be secondary to inactivity and the disease process. Accurate assessment is therefore essential to the development of any treatment programme. Impairment-based diagnoses that may impact on function include: dystonia; bradykinesia; excessive chorea or ballismus; pain; impaired respiratory function and fatigue. It will be important to manage the secondary effects of such impairments. For example, for patients with chorea, protective equipment can be provided, and for patients with dystonia, loss of range of motion and muscle imbalance should be prevented. Functional problems that may occur include: impaired fine motor skills and manual dexterity, impaired sitting posture and sitting ability, impaired mobility, transfers and gait; impaired balance/ and risk of falls and reduced cardiovascular and general physical fitness. 4.4 Procedural interventions 4.4.1 Balance, co-ordination and core stability training. Interventions for retraining balance in individuals with HD depend on the underlying neural, motor and sensory impairments that contribute to postural instability and balance problems. Postural control impairments are closely tied to gait abnormalities, thus interventions for gait problems may indirectly or directly affect balance. In general, balance interventions should focus on: (1) restoring underlying impairments whenever possible; (2) preventing secondary impairments that may affect postural instability; (3) facilitating task-specific sensory and motor strategies necessary for meeting postural control demands; and, (4) practicing the maintenance of postural control in a variety of tasks and environments. In general, balance-training activities should be task specific (36). Progressed from a wide to narrower base of support, from static to dynamic activities, from a low to high centre of gravity, and increasing the degrees of freedom that must be controlled can be considered; however the key principle is that the balance demand of a specific task should be assessed and addressed. When restoration is not possible, compensatory interventions may be necessary to address sensory, visual, vestibular and motor impairments, in order to promote balance safety (34). A careful examination of the home, work and community environments in which the patient must function should be conducted and modifications made accordingly; in addition, prescription of assistive devices, home adaptive equipment or modifications may be required. Balance training and strengthening of the postural muscles (core stability) to enhance postural stability should begin in the early stage of the disease and should take place in the environment where the individual's problems are most apparent. General flexibility and strengthening programmes may also be required in line with impairments documented. People should be taught to deliberately prepare in advance for forthcoming threats to balance, or to focus their attention on maintaining balance before a task in which equilibrium is challenged is initiated. It is thought this strategy allows people to use frontal cortical systems to regulate stability, rather than rely upon the impaired basal ganglia mechanisms (37). Training the patient to step in response to perturbations, with an emphasis on speed and accuracy of the stepping strategy, is also recommended. Balance training may be enhanced through the use of auditory and visual cuing. To address the patients inability to attend to more than one task at a time, interventions could include instructing the patient to attend to one task at a time (38). People at high risk of falls should be taught to break down complex activities into simple tasks and to focus their attention on performing each task separately; alternatively, having people with HD practice doing two activities at the same time under various practice and context conditions may be a beneficial component to balance training (38). Fatigue may also contribute to falls risk; strategies should be provided for the person with HD to help them identify when fatigue and the associated influence on performance of functional activities could increase their risk of falls (25, 39). As the disease progresses, compensatory strategies such as using sensory cues or attentional strategies, can be implemented. Assistive devices (walker with wheels is preferred) and safety equipment, such as a helmet or elbow and knee protectors, may be recommended. Because cognitive impairments also increase in number and severity as the disease progresses, additional compensatory strategies, such as providing cues with goal directed feedback, teaching skills using one step commands, providing treatment in a quiet, non-distracting environment should also be incorporated into treatment. Practice should take place through repetition, allowing sufficient time for the person with HD to understand what is required of them and with key points continually being reinforced (40). 4.4.2 Functional and task-specific training Functional training is a critical component of any intervention plan for people with HD. Functional training consists of assisting people with HD with strategies to directly improve their ability to perform daily functional tasks, such as dressing, bathing, climbing stairs, etc. Functional training also includes device and equipment use and injury prevention or reduction (27, 34, 40). Task-specific training is particularly appropriate for people with movement disorders (37), because motor disturbances are typically context-dependent, and are typically seen in complex, well-learned tasks such as walking and reaching. Motor learning research suggests that task-specific practice is essential for permanent improvements in functional abilities (41, 42). A task-based model of intervention is designed to enhance skill learning, and is particularly important for people with degenerative neurological diseases. A task-based model involves first the determination of the task to be learned and setting an appropriate goal for skill attainment (42, 43). This will typically involve re-learning a previously learned skill, such as walking, but while using adaptive equipment. A persons level of skill performance and ability to learn a new skill (either explicitly or implicitly) should be considered in designing an appropriate task-based intervention, which involves structuring practice sessions to maximize learning, structuring the environment, and providing augmented information before, during and after task performance. 4.4.3 Gait Training Gait training may be a primary mode of intervention. The primary goals related to physiotherapy for people with HD are often to improve their walking ability (speed, coordination, balance), or to simply continue walking for as long as possible. The focus of gait training should be on identifying those aspects of gait that are functionally limiting (44), and then designing an intervention plan that is aimed at ameliorating or compensating for the gait impairments. The influence of the practice environment on learning and carry over, and the interaction between the patient and the environment directly affects the movement that emerges (45). Structuring practice of walking within an environment that is realistic to the patients current life situation is likely to yield the best results. 4.4.4 Sensory cueing Sensory cueing involves the use of augmented sensory information, typically in the form of external visual, auditory or manual cueing, to improve performance in a task. Sensory cueing has been most commonly used for people with PD as a means to facilitate movement and overcome episodes of freezing and akinesia, typically during gait. A major aim for therapeutic intervention in HD is for therapists to teach people with HD how to effectively bypass damaged basal ganglia structures, and use frontal neural pathways to control movement (37). This involves accessing the motor system by the patient responding to a visual or auditory input (which occurs through frontal pathways), rather than self-initiating movement (which occurs through the basal ganglia-cortical pathway). There is some controversy as to whether individuals with HD can benefit from rhythmic auditory cues to improve gait characteristics (46, 47). Synchronizing gait to rhythmic cues from a metronome (but not music) has been shown to assist the modulation of gait speed in people with HD (47), however under dual task conditions metronome cues may be less helpful due to attentional deficits in people with HD (38, 46). 4.4.5 Adaptive equipment (see APPENDIX 3) It is critical that the physiotherapist considers the nature of the disease process when considering devices and adaptive equipment. As functional status may be constantly changing, evaluation needs to incorporate both immediate and longer term needs. It is important for the therapist to consider equipment that is adaptable to a patients changing condition. A rollator walker with swivel castors would be the device of choice for individuals requiring walking aids. Walking sticks tend to be more hazardous. Specialised seating needs should be considered; this may include increased seat back height and depth, tilt and appropriate foot support. Hard surfaces and edges of assistive devices and wheelchairs should be protected with padding where necessary. Choosing the right kind of adaptive equipment is a collaborative process. Balancing independence and safety requires special consideration for each persons individual needs (40). Use of certain devices and equipment, such as those described above, may provide the necessary support to maximize a persons functional abilities. 4.4.6 Protective techniques Protective techniques are often used for people with Huntingtons disease, who have an increased risk of bruising and fractures due to involuntary choreic movements. People with HD benefit from protective padding on the elbow, forearms knees and shins to minimize injury. In order to maximize a patients ambulatory independence, a therapist may recommend use of a helmet and other body padding as a patient with HD advances in the disease process. A helmet may prevent serious head injury in case of a fall, and therefore allows a patient who might otherwise be considered unsafe the opportunity to continue to ambulate independently. Restraint should be kept to a minimum; uncontrolled movements should be minimised as much as possible by considering posture and positional changes. 4.4.7 Airway Clearance Techniques Respiratory problems may develop in any disease stage, but are more likely to occur in the late-middle and late stages of the disease as mobility becomes more limited. Respiratory interventions, such as deep breathing exercises, body positioning to optimize ventilation-perfusion, modified postural drainage, and airway clearance techniques may be required for specific respiratory problems. Caregivers may be taught assisted coughing techniques and a suction machine should be made available for those people with HD who have difficulty clearing secretions. Educating caregivers regarding the signs of aspiration is also important. 4.4.8 Other Procedural Interventions Manual therapy, electrotherapeutic modalities and physical agents as well as mechanical modalities are not discussed in these guidelines. These interventions are not commonly utilized in people with Central Nervous System Disorders, although in certain cases their use may be indicated, there is no evidence to support their use in people with HD. 4.5 Exercise for people with HD Any person with HD who is considering participation in an exercise programme should have a fitness profile developed that considers their medical presentation. The goals for such a programme should focus addressing specific current limitations in functional abilities These factors will drive the exact mode of prescribed exercises, specifically frequency, duration, intensity and mode of exercise. Frequency and duration will depend on the overall cardiovascular fitness of the individual and any associated undesirable effects. Some people with HD will find that shorter duration of exercise more frequently throughout the week to be less fatiguing, for example. Mode of exercise depends on the ability of the patient, although in terms of the exercise profile, a functional activity exercise mode is the optimal approach. This focuses on training the specific skills that the person with HD wants to improve i.e. hand exercises, sit to stand exercises or walking exercise Mode-specific training will drive task-specific changes. Balance and functional skills can be trained during strengthening or endurance activities in a gym by using free weights or pulleys whereby body stability has to be trained to achieve the exercise performance. Limitations of the condition may necessitate the use of specific or adapted equipment. Adaptations will have to be made that consider their medical and social situation as well as personal preference relating to exercise. Adherence is likely to be better if the person with HD and their carer are involved in the choice of exercise mode and the exercise profile that is developed. In terms of the dose of exercise, the components of exercise that need to be trained (muscle endurance, strength, speed power, cardiovascular and flexibility) should be considered. The muscles and joints that are needed to do the movement need to be specifically targeted, and the length of time should be related to the requirements of the functional activity. For example, if a therapist is training a patient for walking to the shops, then it is important train for the appropriate walking time (endurance) as well as considering speed in terms of requirements in the community for walking and crossing roads. A warm-up and cool-down should be incorporated into all programmes and as in other populations, careful baseline testing should be carried out prior to prescription. See Appendix 4 for an example of a case study applying the above principles in a person with HD. The minimal dose and dose response to exercise are as yet not known in HD. Current recommendations are to utilise the American College of Sports Medicine guidelines for exercise prescription. It is however essential to review the response and employ careful monitoring throughout as safety and efficacy trials have not been conducted. Vital signs, symptoms of exertion, such as dyspnoea, excessive fatigue, pallor, and dizziness, and signs and symptoms specific to HD (e.g. increase in chorea) should be monitored and documented, at rest and during and after exercise. The Borg Rating of Perceived Exertion (RPE) Scale (48) can be used to objectively record perceived exertion. American College of Sports Medicine (49) guidelines for exercise prescription: Healthy individuals should exercise 3 times a week For cardiovascular health 30 minutes at each session is required. It is generally considered safe to do 2 x 10 repetition maximum sets for the muscle groups you wish to train. Intensity of training should be in the aerobic training zone of 50-80% age predicted maximal heart rate and for strength reps 60% of 1 repetition maximum for 10-15 reps. It is apparent that exercise prescription for people with HD may have similarities with what is known in other neurological conditions. However HD is a progressive disease and this requires skilful progression of exercises within the limitations of that individual. This may mean at times increasing the exercise and at times reducing the absolute amount of activity or the absolute load that is lifted or the treadmill or bike speed or resistance, whilst maintaining the relative intensity of the exercise as well as the duration and frequency. In some cases, the mode of delivery may be completely changed where impairments such as cognitive behavioural issues or motor issues prevent the current mode of deliver and in this cases novel approaches such as using computer simulated activities (e.g., Nintendo Wii Sports) should be considered. Exercise prescription is an individual with HD is further complicated by motivation. Adherence is a challenging issue but it is generally considered advantageous to do something which is more than doing nothing. It is important to consider long-term delivery issues. This may mean altering the setting of intervention i.e. in a gym or clinic or home-based. Furthermore the structure of the intervention i.e. group based vs. individual should be considered. The issues of support for the carers and the importance of involving the caregiver/ family in exercise should to be highlighted. The impact of any cognitive impairment and fatigue on the timing of an intervention during the day and the content of the intervention i.e. amount of physical activity/ advice/ education given should also be considered. All individuals will need careful familiarisation with all protocols and equipment that in order to ensure safety, careful instruction of safe exercise may be required. Links with other health care professionals should be maintained at all times. The physiotherapist should have knowledge of their scope of practice and recognise when to refer to other disciplines. 5. OUTCOMES 5.1 Overview A physical therapy outcome measure is a test or scale that accurately measures a particular patient attribute and has the ability to be influence by physical therapy intervention (Mayo, 1994). Thus, physical therapy outcome measures must be sensitive to demonstrate change in a given domain. This is challenging for patients with degenerative diseases, such as HD, because simply having no change or deterioration in function may be a desirable goal. However, the use of standardized outcome measures for people with HD can be useful, and therapists should try to utilize one or more of these measures in an attempt to quantify changes in patients level of participation, functional abilities or impairments as a result of physiotherapy intervention. It is through the consistent use of such measures that therapists can begin to justify and support the benefits of physiotherapy for patients with HD. 5.2 Choosing outcome measures There are a wide range of choices of outcome measures in physiotherapy; however none that are specifically designed for patients with HD. For more detailed information on using outcome measures, readers are referred to: Fawcett AL (2007) Principles of assessment and outcome measurement for Occupational therapists and Physiotherapists. John Wiley & Sons: West Sussex, England. When choosing an outcome measure, there are several important considerations. First, therapists should determine what aspect they are attempting to measure. It may be useful to consider measurement tools based on the ICF model (Participation, Activity, Impairments in body structures and function). Are you and your patient concerned primarily with walking ability or speed? Or rather are you both more concerned with participation in terms of functioning at work, or lessening caregiver burden? You should also choose measures that have been found to have good reliability and are valid. To date, very little research has been done to validate the use of outcomes measures in patient with HD. Therefore, therapists can only utilize research from other disorders (e.g. Parkinsons disease), to aide them in choosing appropriate tests. Definitions for commonly used terminology related to outcome measures are provided below. In the next section, we provide a list of potential outcome measures that can be utilized for patients with HD. Reliability - how uniformly the test can be repeated when administered on more than one occasion (test-retest) or by more than one rater (inter-rater). Reliability of a test is typically measured by Intraclass Correlation Coefficients (ICC). Validity - the extent to which the test measures what it is designed to measure Responsiveness - the ability of a test or measure to capture change over time. Is the measure sensitive to the subtle changes patients make? Minimal detectable change (MDC) the amount of change that must occur in a score to show that the change is not just due to measurement error. It is typically calculated using the standard error of measurement (SEM). The SEM represents how much a variable can vary within the subject, and is the standard deviation of the scores of a single person who is tested multiple times. To date, there are no known values for MDC for patients with HD. A recent study in patients with Parkinsons disease (PD) has provided MDC values for the following tests (50). While this information is not directly applicable to patients with HD, it can be used as a guideline for therapists until further research is done. 5.3 Relevant Outcome Measures The following are a list of tests and measures that are recommended as potential outcome measures to be used by physiotherapists for patients with HD. We have categorized these tests and measures based on ICF level: Participation, Functional abilities and Impairments (in body structure and function). When available, we have provided reliability (test-retest) and minimal detectable change for healthy adults and for patients with PD. 5.3.1 Limitations in Participation Measures of participation limitations can include evaluation of the following: caregiver burden, ability to make needs known, and ability to care for self. The Short Form-36 (51) The SF-36 is a patient questionnaire that measures quality of life and level of participation. It is comprised of 36 questions that address 8 subscales. The SF-36 can not be reprinted, but can be found on the EHDN website (if you are an EHDN member;  HYPERLINK "http://www.euro-hd.net" www.euro-hd.net Registry>Documents>CRF Forms) Reliability - ICC >.80 (except for social functioning subscale which was .71; in patients with PD)(50) Minimal Detectable Change 19%-45% (in patients with PD) (50) 5.3.2 Limitations in Functional Activities Six-minute walk test (52) This test requires a patient to walk around the perimeter of a set circuit for a total 6 minutes. Assistive devices can be used. Patients are timed, and the distance walked in 6 minutes is recorded. A patients pulse can be taken before and after completion of the walk. Reliability ICC =.96 (in patients with PD) (50) Minimal detectable change - 82 m (in patients with PD) (50) 10 m walk (53) A 14m walking area is marked, with 2 metres on either side allowed for starting and stopping of walking (acceleration and deceleration). Patients are asked to walk the length of the area at a comfortable walking speed. Patients can only participate in this test if they are unable to ambulate without physical assistance, however assistive devices can be used. The total time to complete 10m, as well as the number of steps taken during those 10m is recorded. Average gait speed (distance/time) and cadence (step/min) can then be calculated. This test should be repeated twice and the average score for both tests documented. Reliability ICC = .87 (54) Minimal detectable change not reported The Timed Up & Go (TUG) Test (55) For this test, patients stand up from a chair, walk 3 meters, turn around, and return to the chair. The test is timed. Patients should not participate in this test if they are unable to ambulate without physical assistance, but assistive devices can be used. This test is repeated twice and the average score for both tests documented. Reliability ICC .85 (in patients with PD) (50) Minimal detectable change 11 sec (50) Physical Performance Test (PPT) (56) The PPT is a compilation of items mimicking basic and complex ADL tasks and is scored by timing the completion of a task. This time then is related to a categorical score of 0 to 4, in which 4 represents people in the fastest 20% at completing the task, 1 represents those in the slowest 20%, and 0 represents those who cannot complete the task. The maximum score on the 9-item PPT is 36. Subjects perform a series of 9 standardized tasks, which are timed. The tasks include writing a sentence, simulated eating, turning 360 degrees, putting on and removing a jacket, lifting a book and putting it on a shelf, picking up a penny from the floor, a 50-foot walk test, and climbing stairs (scored as two items: time for climbing one flight of stairs and counting the number of flights of stairs the subject is able to ascend). Reliability and minimal detectable change do not appear to be reported. Rivermead Mobility Index (57) The RMI is a simple and short outcome measure, consisting of 14 questions and 1 observation. Its items cover a wide range of activities, from turning over in bed to running. The items are scored either unable or able (01) and added to produce a total score (015). A higher score reflects better mobility. Reliability - .96 (in patients post stroke) (58, 59) Minimal detectable change - 2 points (in patients post stroke) (60) Barthel Index (13) The Barthel Index is a 10-category rating scale that evaluates the level of assistance needed by a patient to perform the following tasks: feeding, bathing, grooming, dressing, bowels, bladder, toilet use, transfer, mobility and stairs. Reliability ICC >.8 (in patients post stroke)(61) Minimal detectable change 1.85 (in patients post stroke)(62) Activities of Balance Confidence Scale (63) The ABC is a questionnaire designed to measure a person confidence in performing a variety of tasks without losing balance or becoming unstable. The underlying construct being measured is based on self-efficacy theory (64). Reliability = ICC = .94 (in patients with PD) (50) Minimal detectable change 13% (in patients with PD) (50) UHDRS Functional Status (65) The UHDRS is a rating system used to quantify the severity of HD. It was developed as a clinical rating scale to assess four domains of clinical performance and capacity in individuals with HD: motor function, cognitive function, behavioural abnormalities, and functional capacity. These scores can be calculated by summing the various questions of each section. The functional capacity domain is a self-report measure of performance in various ADLs and IADLs. Research on the validity of the UHDRS indicates that it may be useful for tracking changes in the clinical features of HD over time, and appears to be appropriate for repeated administration during clinical studies. The Functional Status sections may not have sufficient specificity or sensitivity for changes related to physical therapy interventions, but this has not yet been systematically evaluated. Number of falls Number of falls (66, 67) can be documented to asking patients to prospectively keep a diary documenting any falls or slips in a given time period. 5.3.3 Measures of Impairments UHDRS motor (65) The UHDRS is a rating system used to quantify the severity of Huntington's Disease. It was developed as a clinical rating scale to assess four domains of clinical performance and capacity in individuals with HD: motor function, cognitive function, behavioral abnormalities, and functional capacity. These scores can be calculated by summing the various questions of each section. In the motor function domain, some sections (such as chorea and dystonia) require grading each extremity, face, bucco-oral-lingual, and trunk separately. Research on the validity of the UHDRS indicates that it may be useful for tracking changes in the clinical features of HD over time, and appears to be appropriate for repeated administration during clinical studies. The motor section may not have sufficient specificity or sensitivity for changes related to physical therapy interventions, but this has not yet been systematically evaluated. Berg Balance scale (68) This scale entails 14 sub-tests of various activities related to balance control. Sub-tests include static postures (e.g. sitting, standing), transitions (e.g. sitting to standing, transferring between chairs), and challenging positions (e.g. standing with eyes closed). Quality of performance is scored on a five-point scale. Minimal detectable change 5 pts (Parkinsons Disease) (50) Tinetti Balance and Gait (69) The Tinetti Gait and Balance Instrument was initially designed to determine an elderly persons risk of falling. It takes about 8-10 minutes to complete. It is a 2-part evaluation that measures performance on various balance tasks and provides a quantitative ranking of various gait deviations. Reliability ICC>.80 (70) Dynamic Gait Index (36) The Dynamic Gait Index was designed to evaluate a persons ability to modify gait in response to changing task demands. It is indicated for use with ambulatory patients with balance impairments. Reliability ICC = .96 (in patients with chronic stroke) (71) Appendix One: Review of available literature relative to physiotherapy in HD Databases searched: Ovid MEDLINE(R) 1950 to July Week 5 2008 EMBASE 1980 to 2008 Week 19, 9th July 2008 EBSCO CINAHL 1981 to 9th July 2008 PEDro 1929 to 9th July 2008 Search Strategy: Articles published in English; Therapy in human HD subjects only; Subjects to be of 18 years of age + with a confirmed diagnosis of HD Search terms included: Title: Huntingtons disease, Chorea, Huntington, Huntington Chorea Exp. Physical therapy modalities, physical therapy .mp., physiotherapy .mp., exp. Rehabilitation/ rehabilitation .mp., exp occupational therapy/ occupational therapy .mp. Physical activity .mp., exp exercise therapy/ exercise therapy .mp., exp. Activities of daily living/ activities of daily living .mp., physical mobility .mp., exp muscle stretching exercises/ stretching .mp., exp respiratory therapy/ respiratory therapy .mp., flexibility .mp., exp range of motion/ range of movement .mp., exp upper extremity/ upper limb .mp., reaching .mp., reach .mp., grasping .mp., grasp .mp., reach to grasp .mp., exp posture/ posture .mp., balance .mp., exp accidental falls,/ falls .mp., exp equipment and supplies/ equipment .mp., seating .mp., positioning .mp., transfers .mp., exp functional status/ functional status .mp., exp gait/ gait .mp. Reviews Bilney B, Morris ME, Denisenko S. Physiotherapy for people with movement disorders arising from basal ganglia dysfunction. New Zealand Journal of Physiotherapy. 2003; 31(2):94-100. Bilney B, Morris ME, Perry A. Effectiveness of physiotherapy, occupational therapy, and speech pathology for people with Huntington's disease: a systematic review. Neurorehabilitation & Neural Repair. 2003 Mar; 17(1):12-24. Busse ME, Rosser AE. Can directed activity improve mobility in Huntington's disease? Brain Research Bulletin. 2007 Apr 30; 72(2-3):172- 4. General Physiotherapy Binswanger C. Physical therapy in Huntington disease. Archives of Physical Medicine & Rehabilitation. 1980 Mar; 61(3):148. Imbriglio S, Peacock IW. Huntington's disease at mid-stage. Clinical Management. 1992; 12(5):62-72. Lavers A. An Account of a Weekly Activity Group with Huntington's Chorea People on a Long-stay Ward. Occupational Therapy. 1981; 44:387-92. Peacock IW. A physical therapy program for Huntington's disease people. Clinical Management in Physical Therapy. 1987 1987 Jan-Feb; 7(1):22. Quinn L, Rao A. Physical therapy for people with Huntington disease: current perspectives and case report. Neurology Report. 2002; 26(3):145-53. Sheaff F. Hydrotherapy in Huntington's disease. Nursing Times. 1990 Jan 24-30;86(4):46-9. Zinzi P, Salmaso D, De Grandis R, Graziani G, Maceroni S, Bentivoglio A, et al. Effects of an intensive rehabilitation programme on people with Huntington's disease: a pilot study. Clinical Rehabilitation. 2007 Jul; 21(7):603-13. Busse M, Khalil H, Quinn L, Rosser A. Physical Therapy Intervention for People with Huntington Disease. Phys. Ther. 2008; 88 (7) 820-831 Gait Specific Churchyard AJ, Morris ME, Georgiou N, Chiu E, Cooper R, Iansek R. Gait dysfunction in Huntington's disease: parkinsonism and a disorder of timing. Implications for movement rehabilitation. Advances in Neurology. 2001; 87:375-85. Delval A, Krystkowiak P, Blatt JL, Labyt E, Bourriez JL, Dujardin K, et al. Role of hypokinesia and bradykinesia in gait disturbances in Huntington's disease: a biomechanical study. J Neurol 2006; 253:73-80. Delval A, Krystkowiak P, Blatt JL, Labyt E, Bourriez JL, Dujardin K, et al. A biomechanical study of gait initiation in Huntington's disease. Gait & Posture. 2007 Feb; 25(2):279-88. Delval A, Krystkowiak P, Delliaux M, Dujardin K, Blatt J, Deste A et al. Role of attentional resources on gait performance in Huntington's disease. Movement Disorders. 2008;23 (5) 684-689. Delval A; Krystkowiak P; Delliaux M; Blatt JL; Derambure P; Deste A; Defebvre L. Effect of external cueing on gait in Huntington's disease Movement Disorders. Early View Thaut MH, Miltner R, Lange HW, Hurt CP, Hoemberg V. Velocity modulation and rhythmic synchronization of gait in Huntington's disease. Movement Disorders. 1999 Sep; 14(5):808-19. Grimbergen Y; Knol M; Bloem B; Kremer B; Roos R; Munneke M. Falls and gait disturbances in Huntington's disease. Movement Disorders. 2008; 23(7):970-976 Rao A; Muratori L; Louis E; Moskowitz C; Marder K. Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease. Movement Disorders. 2008; 23 (8): 1100-1107 Upper Limb Specific Curra A, Agostino R, Galizia P, Fittipaldi F, Manfredi M, Berardelli A. Sub-movement cueing and motor sequence execution in people with Huntington's disease. Clinical Neurophysiology. 2000 Jul; 111(7):1184-90. Quinn L, Reilmann R, Marder K, Gordon AM. Altered movement trajectories and force control during object transport in Huntington's disease. Movement Disorders. 2001 May; 16(3):469-80. Multi-sensory Stimulation Leng TR, Woodward MJ, Stokes MJ, Swan AV, Wareing L, Baker R. Effects of multisensory stimulation in people with Huntington's disease: a randomized controlled pilot study. Clinical Rehabilitation. 2003; 17(1):30-41. Additional Relevant Studies (not summarised) Fecteau GW, Boyne J. Behavioural relaxation training with Huntington's disease people: a pilot study. Psychological Reports. 1987 Aug; 61(1):151-7. Power PW. Family intervention in rehabilitation of patient with Huntington disease. Archives of Physical Medicine & Rehabilitation. 1982 Sep; 63(9):441-2. Summary of Studies (up to 09/07/2008) Abbreviations used in tables: AbbreviationMeaningHDHuntingtons disease groupCControl/ comparison groupMMaleFFemale!Increased/ improved!Decreased/ decline Binswanger C. Physical therapy in Huntington disease. Archives of Physical Medicine & Rehabilitation. 1980; 61(3):148. Design SettingParticipant InterventionOutcome MeasuresResultsBefore-after observational Pilot study Home-based N=5 ? Confirmed diagnosis of HD 1 hour x 2 per week 4 weeks duration Delivered by a physiotherapist, individually tailored programmes to carry out self-supervised also. Components of intervention not specified but thought to include: -Neurophysiologic techniques -Range of motion exercises -Strengthening exercises -Gait rehabilitation -Breathing control Not clearly defined States standard physiotherapy tests of physical and functional capacity . Participant s alertness and ability/ willingness to participate in activities subjectively observed.! Alertness ! Ability/ willingness to engage in activities ! Balance leading to safer ambulation Lavers A. An Account of a Weekly Activity Group with Huntington's Chorea Patients on a Long-stay Ward. Occupational Therapy. 1981; 44:387-92. Design SettingParticipant InterventionOutcome MeasuresResultsReflective report/ non experimental/ expert opinion Long-stay inpatient psychiatric wardN= 6 Confirmed diagnosis of HD Multidisciplinary 1x per week 12-month duration. Physiotherapy intervention included: - Assisted walking -Mobility training - Mat exercises including prone lying, bridging, kneeling, crawling, long sitting, standing -Chair exercises including hand games, coordination and stretching activities -Weighted cuffs for upper limb coordination and assisted walking -Splinting -Positioning -Use of supportive devices Not clearly defined/ none reported Physiotherapy specific aims: - Maintain mobility, balance and coordination - Prevent contractures - Increase social interaction - Reduce passive behaviour  No objective results - Week to week variability noted. - Despite the input, physical deliberation did occur - The group provided an aspect of maintenance therapy within advanced stage HD  Peacock IW. A physical therapy program for Huntington's disease patients. Clinical Management in Physical Therapy. 1987; 7(1):22. Design SettingParticipant InterventionOutcome MeasuresResultsBefore-after observational study Therapy centre for weekly sessions Home-based exercise for self-supervised interventionN=10 Early to mid-stage HD Community dwelling 1 x per week 12 weeks duration + 3 booster sessions held monthly Total session duration: 2hrs Exercise duration: 45 mins Therapist led intervention: Relaxation followed by exercise Exercise individualised addressing maintenance of: -Functional ability -Flexibility -Coordination -Balance -Breathing control -Strength. Participants also given a list of exercises to carry out at home self-supervised/ family-supervised. Set, validated outcome measures not included. 10 tests including: -Range of motion/ flexibility -Strength Co-ordinated and reciprocal movement -Standing, one foot and kneeling balance -Breathing volume and control All participants improved on 7+/10 functional tests All participants: -!Flexibility -! Elements of coordination -! Breathing control and volume 9 participants: -! Standing balance -! Strength  Sheaff F. Hydrotherapy in Huntington's disease. Nursing Times. 1990; 86(4):46-9. Design SettingParticipant InterventionOutcome MeasuresResultsSingle case study Non experimental In patient wardN=1 50 year old male Advanced stage HD -An emaciated frame - Difficulties feeding - Dysarthria - Incontinence -Difficulties walking - Chorea + 1x per week Duration not stated Physiotherapist supervised hydrotherapy sessions with gentle exercise Not clearly defined -Effect on chorea -Participants adherence -Participants view on intervention -Ability to exercise in the water-!Chorea within water, and immediately following therapy - Participant able to gently exercise within the water -Good adherence  only one session missed due to illness. -Participant appeared to enjoy sessions  Quinn L, Rao A. Physical therapy for patients with Huntington disease: current perspectives and case report. Neurology Report. 2002; 26(3):145-53. Design SettingParticipant InterventionOutcome MeasuresResultsSingle case study Observational Home-based N=1 49 year old male Diagnosed with HD 17 years ago Previous referrals to physiotherapy for functional decline and falls (sometimes leading to injury) Participant on stable medication 5 x per week 14 weeks (only 12 weeks of therapy) 35 mins per session -Video based exercise designed to reduce impairment and promote balance, coordination and flexibility (unable to obtain content from online journal) -Physiotherapist instructed stretches, one leg balance, and tandem walking, and upper limb ball exercises. Encouraged use of walking stick and foot orthotics-SF-36 -Number of falls -Modified falls scale -Berg Balance Scale -Self paced/ fast paced gait speed -UHDRS Motor section -Physical examinations of posture, range of movement, strength  ! Level of disability (SF-36) !Number of falls !Walking speed Improvement in: -Falls efficacy scale -Berg balance scale (+9 points) -UHDRS Motor (dystonia, chorea and bradykinesia) Patient subjectively reported enjoying the intervention and a wish to continue.  Quinn L, Rao A. Physical therapy for patients with Huntington disease: current perspectives and case report. Neurology Report. 2002; 26(3):145-53. Components of the video exercise program for individuals with HD (35 minutes total time)Exercise typeSpecific exercisesWarm up Each exercise performed 10 times deep breathing neck flexion, extension/ rotation arm circles forward and backward squatting reaching up to sky, alternating arms reaching to each side, crossing arms across body reach to floor, keeping knees slightly bentLeg exercises (standing) Each exercise performed 10-15 times knee lifts both legs* kicks to front both legs* squats * walk forwards and back walk to side (side step) jump in place *Arm exercises (standing) Each exercise performed 10-15 times both armsusing 2 lb. weights, or heavy cans overhead press large arm circles biceps curls theraband exercises horizontal abduction shoulder flexion/extensionFloor exercises stretching and strengthening hamstring stretch (hold 30 seconds x 3 each leg) inner thigh stretch (hold 30 seconds x 3) sit ups (20 times) straight leg raises (15 each leg) prone press ups (10 times) push ups (15 times) cat camelCool downRepeat warm up  * Participants are instructed to hold onto chair for support if needed Zinzi P, Salmaso D, De Grandis R, Graziani G, Maceroni S, Bentivoglio A, et al. Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study. Clinical Rehabilitation. 2007; 21(7):603-13. Design SettingParticipant InterventionOutcome MeasuresResultsBefore-after Pilot study Inpatient rehabilitation centreN=40 M=17 & F=23 -Confirmed diagnosis of HD -Early to mid stage -Absence of severe psychiatric disease -Acceptable cognitive ability -All symptomatic 6x per week 3 weeks x3 per year for 2 years Per week: 8hrs per day= 5 days 4hrs per day = 1 day Individualised treatment programmes Exercise performed both individually and in groups Multidisciplinary led Physiotherapy Intervention included: -Respiratory intervention to ! breathing efficiency and coughing -Facial exercise -Whole body exercises in lying standing and sitting for: -Gait -Balance -Transfer training -Strengthening -Flexibility -Coordination -Postural training Common gym equipment used i.e. treadmill, bike, wall bars, balance board, step, free weightsAt baseline for each admission: -Zung depression scale -Mini mental status examination (MMSE) -Barthel Index (ADL) Baseline and post-admission: -Tinetti scale (balance) - Physical Performance Test (PPT)  No significant change in Zung, MMSE, Barthel Index at each admission over the two years no cognitive or functional decline Motor performance showed significant improvement from baseline at end of admission for each admission Mean Tinetti score !: +4.7 Mean PPT score !: +5.21 No carry over effect of improvement to next admission Tinetti and PPT scores (Motor function) maintained at baseline level over the two years  no motor decline Note: only N= 11/ 40 completed all 6 admissions  Busse M, Khalil H, Quinn L, Rosser A. Physical Therapy Intervention for People with Huntington Disease. Phys. Ther. 2008; 88 (7) 820-831 Design SettingParticipant InterventionOutcome MeasuresResultsQualitative design UK widePhysiotherapists working with HD peopleInterviews (n=8); questionnaires (n=49) N/A; thematic analysis of interview and questionnaire data Main issues that emerged from the data were classified into three sub-themes: (1) There is insufficient use of routine physical therapy-related outcome measures at different stages of HD; (2) There is under-utilization of physical therapy services in managing people with HD (particularly in the early stages) and (3) Management of falls and mobility-deficit progression is a key treatment aim for people with HD.  Thaut MH, Miltner R, Lange HW, Hurt CP, Hoemberg V. Velocity modulation and rhythmic synchronization of gait in Huntington's disease. Movement Disorders. 1999; 14(5):808-19. Design SettingParticipant InterventionOutcome MeasuresResultsBefore-after Observational study Laboratory basedN=27 (M=13 & F=14) Confirmed diagnosis of HD Mean age: 47 + 10.7 yrs Mean disease duration: 7.3+3.3yrs Shoulson-Fahn scores: Mean chorea: 1.37+0.61 Mean disability: 1.28+0.68 19 participants medicated 20m gait analysed Uncued (self-paced): 4 gait trials 1) Normal speed pre-test baseline 2) Slower than baseline 3) Faster than baseline 4) Normal speed 1st post-test Cued: Rhythmic Auditory Stimulation (RAS) 1) RAS metronome at 10% slower than baseline 2) RAS metronome at 10-20% faster than baseline 3) RAS music faster than baseline 4) Normal speed 2nd post-testGait velocity Cadence Stride length Swing symmetry Cadence asynchrony to RAS Baseline: All parameters abnormal e.g. ! velocity, stride length, and cadence compared to aged matched healthy comparison Uncued: Slow N=25/27 able to ! velocity by 25.5%. Gait symmetry ! Fast N=19/27 able to ! velocity by 24.3%. Gait symmetry ! Cued: Slow N=21/27 able to ! velocity by 20%. Gait symmetry stable Fast N=23/27 able to ! velocity by 26%. Gait symmetry ! Music N=17/27 able to ! velocity slightly by 9.3% - difficulties modulating velocity Synchronisation Participants were able to synchronise to RAS, especially music Main finding: Participants able to modulate velocity with and without cue present. However, whilst gait remained unchanged between baseline and 1st post-test, velocity significantly improved between baseline and 2nd post-test  TRAINING EFFECT WITH CUE Ability to ! gait velocity with / without cue ! with disease severity Churchyard AJ, Morris ME, Georgiou N, Chiu E, Cooper R, Iansek R. Gait dysfunction in Huntington's disease: parkinsonism and a disorder of timing. Implications for movement rehabilitation. Advances in Neurology. 2001; 87:375-85. Design SettingParticipant InterventionOutcome MeasuresResultsBefore-after observational study Laboratory basedHD group (HD) N=20 Confirmed diagnosed of HD Comparison group (C): N=16 Age matched healthy 5 x 10 m walking trials for each condition Self-paced walking: 1) Preferred 2) Slow 3) Fast Externally triggered: Auditory cue (metronome) Attentional distraction (dual tasking): Walking whilst counting backwards -UHDRS -Cognitive, oral and mood measures (not discussed here) -Gait velocity (m/min) -Stride length (m) -Cadence (steps/ min) -Duration of double support phase UHDRS motor score correlated with severity of hypokinesia Preferred gait (compared to comparison group): ! velocity ! stride length ! cadence Velocity, stride length, cadence !variability ++ Slow and fast walking (internal cue) (compared to comparison group) HD group could modify velocity and stride length but still ! velocity ! stride length Velocity, stride length, cadence !variability ++ External cue (Metronome) Difference between groups in velocity and cadence ! but not  normalised Cadence modulated by metronome but not  normalised Velocity, stride length, cadence !variability ++ Distraction (Dual tasking) HD group further ! velocity and cadence++  Delval A, Krystkowiak P, Blatt JL, Labyt E, Bourriez JL, Dujardin K, et al. Role of hypokinesia and bradykinesia in gait disturbances in Huntington's disease: a biomechanical study. J Neurol 2006; 253:73-80. Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedHD Group (HD): N=15 Confirmed diagnosis of HD(early stage) Comparison group (C): N=15 Age and gender matched No neurological deficits Hypokinesia was studied in terms of both spatial (decrease in stride length) and angular gait parameters (decrease in joint ankle range), whereas hyperkinesia was characterized by an increase in joint ankle range. Bradykinesia (defined by a decrease in gait velocity) was also assessed in terms of temporal parameters (cadence, stride time) Multiple outcome measures used including kinematics, spatiotemporal and joint angles ! velocity and cadence ! stride time (i. e. bradykinesia) for HD no clear ! in stride length angle analysis revealed the coexistence of hyperkinesia and hypokinesia in HD Delval A, Krystkowiak P, Blatt JL, Labyt E, Bourriez JL, Dujardin K, et al. A biomechanical study of gait initiation in Huntington's disease. Gait & Posture. 2007; 25(2):279-88. Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedHD Group (HD): N=15 Confirmed diagnosis of mild to moderate HD Mean age: 47+11.2 yrs Mean time since onset: 5.8+3.6 years Mean Total Functional Capacity (TFC): 10.9+1.6 Motor UHDRS: 28.7+22 Medication not altered during study Comparison group (C): N=15 Age and gender matched No neurological deficits Gait initiation on a force platform + 4 to 5 following steps 1) Externally triggered Auditory cue (beep) to signify gait initiation once participant ready. 2) Self triggered Participant began when ready at fastest speed possible 3-5 trials for each condition Multiple outcome measures used including kinematics, spatiotemporal and joint angles Selection of outcome measures: Centre of pressure (COP) trajectories First step speed (m/s) First step length (m) First step duration (s) Second step speed (m/s) Second step length (m) Second step duration (s) Anticipatory postural adjustments (APA) duration of heel off for starting leg 1st and 2nd step speed and length ! and step duration ! for HD compared to C for both conditions External cue reduced between group differences improving 1st and 2nd step speed and duration for HD External cue minimised between group differences for COP trajectories, reducing deterioration in movement preparation HD APA= C group APA when external cue was present  Delval A, Krystkowiak P, Delliaux M, Dujardin K, Blatt J, Deste A et al. Role of attentional resources on gait performance in Huntington's disease. Movement Disorders. 2008;23 (5) 684-689. Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedHD Group (HD): N=15 People had to be able to walk unaided for at least 10 m without stopping or falling. People had also to be able to perform the cognitive tasks. Mean age: 43.9+ 9.8 Mean time since onset: 4.9 +3.2 years Mean Total Functional Capacity (TFC): 9+ 2.5 Motor UHDRS: 42+ 17.1 Medication not altered during study Comparison group (C): N=15 Age and gender matched No neurological deficits Kinematic spatial, temporal, and angular gait measurements were automatically recorded by means of a video motion system. Subjects walked a distance of 10 m 1) Self-Selected Walking Speed or Free Gait 2) Motor Dual Task (Tray With Four Glasses). 3 ) Cognitive Dual Task: Backward Count 10 gait cycles were taken into account for each subject (five right leg cycles and five left leg cycles) for each condition. Stride length (m), velocity (m/s)] and temporal kinematic gait parameters [cadence (steps/min), velocity (m/s), ratio of single limb support time to double limb support time]. Kinematic angle data [sagittal plane excursions hip, knee, and ankle angles] Dual-task performance resulted in a greater reduction in walking speed, stride length, and cadence in people with HD than in healthy control subjects. A cognitive dual task resulted in a worsening of all spatiotemporal kinematic parameters (in contrast with the motor dual task), suggesting that a cognitive-motor dual task may generate more interference than a dual-motor task  Delval A; Krystkowiak P; Delliaux M; Blatt JL; Derambure P; Deste A; Defebvre L. Effect of external cueing on gait in Huntington's disease. Movement Disorders. Early View Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedFifteen HD people; age 43.9 9.8; matched healthy controlsFree Gait (FG), Metronome 120% (M120) Gait + Motor Task (Carrying a Tray with Four Glasses), Gait + Motor Task, Metronome at 100%, Gait + Motor Task, Metronome at 120% Gait + Cognitive Task: Counting Backwards, Gait + Cognitive Task with Metronome at 100%, Gait + Cognitive Task with Metronome at 120% Kinematic spatial, temporal, and angular gait measurements (VICON system) 1) the effect of a metronome on free gait: lower cadence, stride length, and gait speed in HD people than in controls 2) effect of a metronome on gait plus a motor task and cognitive task: higher gait speed and cadence (but not greater stride length) in controls compared to HD people No statistically significant positive impact of a metronome on gait parameters in HD people performing dual tasks, although trend towards an improvement  Grimbergen Y; Knol M; Bloem B; Kremer B; Roos R; Munneke M. Falls and gait disturbances in Huntington's disease. Movement Disorders. 2008; 23(7):970-976 Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory based45 early to mid-stage HD people; 27 healthy age-matched controls. Falls; UHDRS scores; Quantitative measures of balance (using angular velocity sensors) Gait (using a pressure-sensitive walkway: GaitRite) Twenty-seven people (60%) reported two or more falls in the previous year; Fallers showed significantly higher scores for chorea, bradykinesia and aggression, as well as lower cognitive scores. HD people had a decreased gait velocity and decreased stride length compared to controls and in fallers these were all significantly greater compared to HD non-fallers.  Rao A; Muratori L; Louis E; Moskowitz C; Marder K. Spectrum of gait impairments in presymptomatic and symptomatic Huntington's Disease. Movement Disorders. 2008; 23 (8): 1100-1107 Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedPresymptomatic mutation carriers (PMC) (n =15), symptomatic HD subjects (SHD) (n = 30) and healthy controls (n = 20) Preferred walking speedGait (using a pressure-sensitive walkway: GaitRite); UHDRS Decrease in gait velocity with increasing disease severity; gait impairments were correlated with predicted years to onset in PMC and demonstrated high sensitivity and specificity in distinguishing between controls and mutation carriers  Curra A, Agostino R, Galizia P, Fittipaldi F, Manfredi M, Berardelli A. Sub-movement cueing and motor sequence execution in people with Huntington's disease. Clinical Neurophysiology. 2000 Jul; 111(7):1184-90. Design SettingParticipant InterventionOutcome MeasuresResultsObservational study Laboratory basedHD group: N=7 (M=4& F=3) Mean age: 55.9+9.1yrs Mean disease duration: 4.5+2.1yrs Comparison group (C): N=7 (M=5&F=2) Mean age: 55.5+9.1yrs Free zigzag arm movement joining targets on screen Blocks of 10 trials each, random order Self initiated sequence Move when ready as fast as possible Externally triggered sequence visual cue: Targets change colour consecutively move when change colour Sub movement time (SMT)- movement time between targets Total Movement Time (TMT) time to complete sequence Movement amplitude (MA) Externally triggered only: Reaction time (RT) Self initiated only: Duration of pauses SMT: HD slower than C regardless of condition Both HD and C slower during externally triggered condition than self initiated condition TMT: HD slower than C regardless of condition Both HD and C slower during externally triggered condition than self initiated condition Note: SMT and MT differed less between cued/ self initiated conditions for HD than C. This indicates that the HD group had more difficulties with self-initiated, internally cued movement? RT: HD showed longer RT than C Duration of pauses: No significant differences between groups or conditions HD group still able to sequence movement Quinn L, Reilmann R, Marder K, Gordon AM. Altered movement trajectories and force control during object transport in Huntington's disease. Movement Disorders. 2001 May; 16(3):469-80. Design SettingParticipant InterventionOutcome MeasuresResultsObservational Study Laboratory BasedHD group: N=12 Confirmed diagnosis of HD Mean age 55yrs -Minimal upper limb rigidity -High cognitive ability Comparison group (C): N=12 Age matched In a seated position with a table in front, participants: 1) Reached forward 10cm 2) Grasped and lifted the experimental object with a precision grip 3) Transported it 25cm forward 4) Placed it down on a marker on the table. Task performed at preferred speed Experimental object weight modified: 200g, 400g, 800g 5 practice trials for each weight 5 test trials for each weight -Contact time (thumb and finger contact with object) Preload phase (transition from reach-to-grasp to grasp-to-lift) Loading phase (increase of grip and load force) Transport time (movement from start to finish position) Peak transport velocity Unloading phase (replacement of object and release of one finger) Release phase (release of two fingers) Transport grip force Hand pathContact time: ! in HD compared to C ! with object weight for HD Preload phase: !in HD compared to C regardless of object weight Loading phase: No significant difference between groups or object weight conditions Transport time: !in HD compared to C ! in HD group with ! object weight Peak velocity: Similar for both HD and C group Grip force: ! for HD compared to C group regardless of object weight conditions Grip force variability: Significantly !in HD group within and between trials. Variability ! at maximum object weight 800g Hand Path: Straight in C group, curvilinear in HD group. This did not effect the accuracy of final object position For HD group ! object weight improved linearity of path Unload and release phase: HD group comparable to C group.Leng TR, Woodward MJ, Stokes MJ, Swan AV, Wareing L, Baker R. Effects of multisensory stimulation in people with Huntington's disease: a randomized controlled pilot study. Clinical Rehabilitation. 2003; 17(1):30-41. Design SettingParticipant InterventionOutcome MeasuresResultsRandomised Controlled Trial Pilot study Inpatient residential unitIntervention group (MSE) N=6 Control group (C) N=6 All with a confirmed diagnosis of HD 5yrs+ All advanced (stage V) disease requiring total care 2x per week 4 weeks 30min per session Participants treated individually Multi-sensory stimulation (MSE): Intervention Equipment used: 1) Visual: projector, fibre optic sprays, bubble tubes, kaleidoscope 2) Tactile: vibrating cushion, balls, fabrics, handheld massager, water balloon 3) Auditory: relaxation music 4) Olfactory: Aromatherapy Relaxation: Control: Listened to music Therapist read 12 weeks: 4 week baseline, intervention, and follow up Sustained effects: 2wk intervals -Rehabilitation evaluation scale (REHAB) -Behaviour and mood disturbance scale (BMD) Immediate effects: Before, during and immediately after sessions -Interact (behaviour assessment) Measured 3 days per wk: -Heart Rate (HR) - Blood pressure (BP) -Respiratory rate (RR) -St Hans rating scale (involuntary movement) (SHRS) N=2 withdrawn due to medical complications Sustained effects (therapeutic effect) No significant changes for REHAB, BMD, SHRS, BP, HR and RR during baseline, intervention or follow up for either group. Immediate effect (leisure) Interact: MSE group showed significant improved in mood and stimulation compared to control group. This effect was cumulative over sessions No change from before, to during and after sessions for either group in SHRS, BP, HR and RR Summary: MSE= useful leisure activity, providing management resource for complex neuro-disability  EXPERT OPINION: Study Summary Imbriglio S, Peacock IW. Huntington's disease at mid-stage. Clinical Management. 1992; 12 (5):62-72. Physiotherapy is beneficial in Huntingtons disease (HD), improving/ stabilising motor ability, preventing contractures, and adapting the environment to maintain independence and safety. A physiotherapy evaluation should include: range of motion, muscle strength, leg length, trunk mobility, standing and sitting balance, posture, sensation, cardiopulmonary status, pain, transfers, gait, the need for special equipment, the need for special tests. Exercise and rehabilitation should start early in the disease, before many people feel they need it. As People with HD will be aware of the degenerative nature of their condition and may doubt the need for rehabilitation, support from the physiotherapist is required: explanation/ persuasion of the benefits of physiotherapy, provision of drop-in sessions, and support with remembering to attend sessions. The structure of the intervention is patient dependant some will prefer group work to individualised sessions. Small group sessions provide therapy along with support and social interaction, yet still allow the patient to be individually managed Interventions should focus on: coordination skills, ambulation skills, relaxation skills, and sensory awareness. Therapy sessions can be recreational as well as therapeutic involving balls games etc. Focus on what participants can do and maintaining current levels of function. Decisions should be made collaboratively between the therapist and participant. A key role of the physiotherapist in HD is the assessment of safety during physical functioning. Another key role is communication, support and collaboration with the family members. Appendix Two: Outcome Measures 6-Minute Walk Test Description: The 6-Minute Walk test is a measure of endurance. Equipment: stopwatch, rolling tape measure, track/loop walkway Instructions: Monitor vital signs before and after each test if indicated. Assure patient safety throughout the test. Give the same verbal instructions each time. When I say go, I want you to walk around this [track]. Keep walking until I say stop or until you are too tired to go any further. If you need to rest, you can stop until you feel ready to go again. I am interested in measuring how far you can walk. You can begin when I say go. Time the subject for 6 minutes, then say stop. Measure the distance walked. Also document distance walked at 1 and 3 minutes. Stop testing based on the following criteria: 1. c/o angina symptoms (chest pain or tightness) 2. Any of the following symptoms: a. Light-headedness b. Confusion c. Ataxia, staggering unsteadiness d. Pallor e. Cyanosis f. Nausea g. Marked dyspnea h. Unusual fatigue i. Signs of peripheral circulatory insufficiency j. Claudication or other significant pain k. Facial expressions signifying distress 3. Abnormal cardiac responses a. Systolic blood pressure drops > 10 mmHg b. Systolic blood pressure rises < 250 mmHg c. Diastolic blood pressure rises to > 120 mmHg d. Heart rate drops more than 15 beats per minute (given the subject was walking the last minutes of the test versus resting) Notify physician if test is terminated for any of the above reasons 10 metre Walk Test A 14m walking area will be marked, with 2 m on either side allowed for starting and stopping of walking (acceleration and deceleration). Subjects will be asked to walk the length of the area at a comfortable walking speed. Subjects will be excluded from participating in this test if they are unable to ambulate without physical assistance. Assistive devices can be used. The total time to complete 10m, as well as the number of steps taken during those 10m will be recorded. Average gait speed (distance/time) and cadence (step/min) will then be calculated. This test will be repeated twice and the average score for both tests will be documented. Timed Up and Go Directions: The timed Up and Go test measures, in seconds, the time taken by an individual to stand up from a standard arm chair (approximate seat height of 46 cm, arm height 65 cm), walk a distance of 3 meters (approximately 10 feet), turn, walk back to the chair, and sit down. The subject wears their regular footwear and uses their customary walking aid (none, cane, walker). No physical assistance is given. They start with their back against the chair, their arms resting on the armrests, and their walking aid at hand. They are instructed that, on the word go they are to get up and walk at a comfortable and safe pace to a line on the floor 3 meters away, turn, return to the chair and sit down again. The subject walks through the test once before being timed in order to become familiar with the test. Either a stopwatch or a wristwatch with a second hand can be used to time the trial. Instructions to the patient: When I say go I want you to stand up and walk to the line, turn and then walk back to the chair and sit down again. Walk at your normal pace. Variations: You may have the patient walk at a fast pace to see how quickly they can ambulate. Also you could have them turn to the left and to the right to test any differences. Physical Performance Test Testing Protocol: Administer the test as outlined below. Subjects are given up to two chances to complete each item. Assistive devices are permitted for tasks 6 8. 1. Ask the subject, when given the command to go to write the sentence whales live in the blue ocean. Time from the word go until the pen is lifted from the page at the end of the sentence. All words must be included and legible. Period need not be included for task to be considered completed. 2. Five kidney beans are placed in a bowl, 5 inches from the edge of the desk in front of the patient. An empty coffee can is placed on the table at the patients non-dominant side. A teaspoon is place in the patients dominant hand. Ask the subject on the command go to pick up the beans, one at a time and place each in the coffee can. Time from the command go until the last bean is heard hitting the bottom of the can. 3. Place a Physicians Desk Reference or other heavy book on a table in front of the patient. Ask the patient, when given the command go to place the book on a shelf above shoulder level. Time from the command go to the time the book is resting on the shelf. 4. If the subject has a jacket cardigan sweater, ask them to remove it. If not, give the subject a lab coat. Ask the subject, on the command go to put the coat on completely such that it is straight on their shoulders and then remove the garment completely. Time from the command go until the garment has been complexly removed. 5. Place a penny approximately1 foot from the patients foot on the dominant side. Ask the patient, on the command go to pick up the penny from the floor and stand up. Time from the command go until the subject is standing erect with a penny in hand. 6. With subject in a corridor or in and open room, ask the subject to turn 360 degrees. Evaluate using the scale on PPT scoring sheet. 7. Bring subject to start on a 50 foot walk test course (25 feet out and 25 feet back) and ask the subject, on the command go to walk to the 25-foot mark and back. Time from the command go until the starting line is crossed on the way back. 8. Bring subject to foot of stairs (nine to 12 steps) and ask subject, on the command go to begin climbing stairs until they feel tired and wishes to stop. Before beginning this task, alert the subject to the possibility of developing chest pain or shortness of breath and inform the subject to tell you if any of these symptoms occur. Escort the subject up the stairs. Time from the command go until the subjects first foot reaches the top of the first flight of stairs. Record the number of flights (maximum is four) completed (up and down is one flight). Scoring Sheet   Time Scoring Score1. Write a sentence. (Whales live in the blue ocean.)Secondsd" 10 sec = 4 10.5-15 sec = 3 15.5  20 sec = 2 >20 sec = 1 unable = 02. Simulated eatingSecondsd" 10 sec = 4 10.5-15 sec = 3 15.5  20 sec = 2 >20 sec = 1 unable = 03.Lift a book and put it on a shelf Book PDR 1988: 5.5 lbs Bed height 59 cm Shelf height 118 cm All sitting with feet on floorSecondsd" 2 sec = 4 2.5- 4 sec = 3 4.5  6 sec = 2 > 6 sec = 1 unable = 04.Put on and remove a jacket Standing Use of bathrobe; button down shirt; hospital gown.Secondsd" 10 sec = 4 10.5-15 sec = 3 15.5  20 sec = 2 >20 sec = 1 unable = 05.Pick up a penny from floor.Secondsd" 2 sec = 4 2.5- 4 sec = 3 4.5  6 sec = 2 > 6 sec = 1 unable = 06.Turn 360 degreesDiscontinuous steps = 0 Continuous steps = 2Unsteady (grabs, staggers) = 0 Steady = 27.50-foot walk test. Starting sitting for instructions.Secondsd" 15 sec = 4 15.5- 20 sec = 3 20.5  25 sec = 2 >25 sec = 1 unable = 08.Climb one flight of stairs (+)Secondsd" 5 sec = 4 5.5- 10 sec = 3 10.5  15 sec = 2 >15 sec = 1 unable = 09.Climb stairs (+)Number of flights of stairs up and down (maximum 4)TOTAL SCORE (maximum 36 for nine-item, 28 for seven-item) (*Round time measurements to nearest 0.5 seconds.) (+ omit for 7 item test)  9-item score Rivermead Mobility Index 1. Do you turn over from your back to your side without help? 2. From lying in bed, are you able to get up to sit on the edge of the bed on your own? 3. Could you sit on the edge of the bed without holding on for 10 seconds? 4. Can you (using hands and an aid if necessary) stand up from a chair in less than 15 seconds, and stand there for 15 seconds 5. Observe patient standing for 10 seconds without any aid 6. Are you able to move from bed to chair and back without any help? 7. Can you walk 10 metres with an aid if necessary but with no standby help? 8. Can you manage a flight of steps alone, without help? 9. Do you walk around outside alone, on pavements? 10. Can you walk 10 metres inside with no calliper, splint or aid and no standby help? 11. If you drop something on the floor, can you manage to walk 5 metres to pick it up and walk back? 12. Can you walk over uneven ground (grass, gravel, dirt, snow or ice) without help? 13. Can you get in and out of a shower/ bath unsupervised, and wash yourself? 14. Are you able to climb up and down four steps with no rail but using an aid if necessary? 15. Could you run 10 metres in 4 seconds without limping? (A fast walk is acceptable.) TOTAL Score 0 = No 1 = Yes COPYRIGHT: RIVERMEAD REHABILITATION CENTRE, ABINGDON ROAD, OXFORD OXI 4XD. Barthel Index Activity Score FEEDING 0 = unable 5 = needs help cutting, spreading butter, etc., or requires modified diet 10 = independent BATHING 0 = dependent 5 = independent (or in shower) GROOMING 0 = needs to help with personal care 5 = independent face/hair/teeth/shaving (implements provided) DRESSING 0 = dependent 5 = needs help but can do about half unaided 10 = independent (including buttons, zips, laces, etc.) BOWELS 0 = incontinent (or needs to be given enemas) 5 = occasional accident 10 = continent BLADDER 0 = incontinent, or catheterized and unable to manage alone 5 = occasional accident 10 = continent TOILET USE 0 = dependent 5 = needs some help, but can do something alone 10 = independent (on and off, dressing, wiping) TRANSFERS (BED TO CHAIR AND BACK) 0 = unable, no sitting balance 5 = major help (one or two people, physical), can sit 10 = minor help (verbal or physical) 15 = independent MOBILITY (ON LEVEL SURFACES) 0 = immobile or < 50 yards 5 = wheelchair independent, including corners, > 50 yards 10 = walks with help of one person (verbal or physical) > 50 yards 15 = independent (but may use any aid; for example, stick) > 50 yards STAIRS 0 = unable 5 = needs help (verbal, physical, carrying aid) 10 = independent TOTAL (0100): The Barthel ADL Index: Guidelines 1. The index should be used as a record of what a patient does, not as a record of what a patient could do. 2. The main aim is to establish degree of independence from any help, physical or verbal, however minor and for whatever reason. 3. The need for supervision renders the patient not independent. 4. A patient's performance should be established using the best available evidence. Asking the patient, friends/relatives and nurses are the usual sources, but direct observation and common sense are also important. However direct testing is not needed. 5. Usually the patient's performance over the preceding 24-48 hours is important, but occasionally longer periods will be relevant. 6. Middle categories imply that the patient supplies over 50 per cent of the effort. 7. Use of aids to be independent is allowed. References Mahoney FI, Barthel D. Functional evaluation: the Barthel Index. Maryland State Medical Journal 1965;14:56-61. Used with permission. Loewen SC, Anderson BA. Predictors of stroke outcome using objective measurement scales. Stroke. 1990; 21:78-81. Gresham GE, Phillips TF, Labi ML. ADL status in stroke: relative merits of three standard indexes. Arch Phys Med Rehabil. 1980; 61:355-358. Collin C, Wade DT, Davies S, Horne V. The Barthel ADL Index: a reliability study. Int Disability Study.1988; 10:61-63. Copyright Information The Maryland State Medical Society holds the copyright for the Barthel Index. It may be used freely for non-commercial purposes with the following citation: Mahoney FI, Barthel D. Functional evaluation: the Barthel Index. Maryland State Med Journal 1965; 14:56-61. Used with permission. Permission is required to modify the Barthel Index or to use it for commercial purposes. The Activities of Balance Confidence Scale (ABC) Instructions to Participants: For each of the following, please indicate your level of confidence in doing the activity without losing your balance or becoming unsteady from choosing one of the percentage points on the scale form 0% to 100%. If you do not currently do the activity in question, try and imagine how confident you would be if you had to do the activity. If you normally use a walking aid to do the activity or hold onto someone, rate your confidence as it you were using these supports. If you have any questions about answering any of these items, please ask the administrator. For each of the following activities, please indicate your level of self confidence by choosing a corresponding number from the following rating scale: 0% 10 20 30 40 50 60 70 80 90 100% no confidence completely confident How confident are you that you will not lose your balance or become unsteady when you 1. walk around the house? ____% 2. walk up or down stairs? ____% 3. bend over and pick up a slipper from the front of a closet floor ____% 4. reach for a small can off a shelf at eye level? ____% 5. stand on your tiptoes and reach for something above your head? ____% 6. stand on a chair and reach for something? ____% 7. sweep the floor? ____% 8. walk outside the house to a car parked in the driveway? ____% 9. get into or out of a car? ____% 10. walk across a parking lot to the mall? ____% 11. walk up or down a ramp? ____% 12. walk in a crowded mall where people rapidly walk past you? ____% 13. are bumped into by people as you walk through the mall?____% 14. step onto or off an escalator while you are holding onto a railing? ____% 15. step onto or off an escalator while holding onto parcels such that you cannot hold onto the railing? ____% 16. walk outside on icy sidewalks? ____% *Powell, LE & Myers AM. The Activities-specific Balance Confidence (ABC) Scale. J Gerontol Med Sci 1995; 50(1): M28-34 Berg Balance Scale Description: 14-item scale designed to measure balance of the older adult in a clinical setting. Equipment needed: Ruler 2 standard chairs (one with arm rests, one without) Footstool or step Stopwatch or wristwatch 15 ft walkway Completion: Time: 15-20 minutes Scoring: A five-point ordinal scale, ranging from 0-4. 0 indicates the lowest level of function and 4 the highest level of function. Total Score = 28 Interpretation: 41-56 = low fall risk; 21-40 = medium fall risk; 0 20 = high fall risk; < 36 fall risk close to 100% ITEM DESCRIPTION SCORE (0-4) 1. Sitting to standing 2. Standing unsupported 3. Sitting unsupported 4. Standing to sitting 5. Transfers 6. Standing with eyes closed 7. Standing with feet together 8. Reaching forward with outstretched arm 9. Retrieving object from floor 10. Turning to look behind 11. Turning 360 degrees 12. Placing alternate foot on stool 13. Standing with one foot in front 14. Standing on one foot Total ________ GENERAL INSTRUCTIONS Please document each task and/or give instructions as written. When scoring, please record the lowest response category that applies for each item. In most items, the subject is asked to maintain a given position for a specific time. Progressively more points are deducted if the time or distance requirements are note met, if the subjects performance warrants supervision, or if the subject touches an external support or receives assistance from the examiner. Subject should understand that they must maintain their balance while attempting the tasks. The choices of which leg to stand on or how far to reach are left to the subject. Poor judgment will adversely influence the performance and the scoring. Equipment required for testing is a stopwatch or watch with a second hand, and a ruler or other indicator of 2, 5, and 10 inches. Chairs used during testing should be a reasonable height. Either a step or a stool of average step height may be used for item # 12. Berg Balance Scale Scoring 1. SITTING TO STANDING INSTRUCTIONS: Please stand up. Try not to use your hand for support. ( ) 4 able to stand without using hands and stabilize independently ( ) 3 able to stand independently using hands ( ) 2 able to stand using hands after several tries ( ) 1 needs minimal aid to stand or stabilize ( ) 0 needs moderate or maximal assist to stand 2. STANDING UNSUPPORTED INSTRUCTIONS: Please stand for two minutes without holding on. ( ) 4 able to stand safely for 2 minutes ( ) 3 able to stand 2 minutes with supervision ( ) 2 able to stand 30 seconds unsupported ( ) 1 needs several tries to stand 30 seconds unsupported ( ) 0 unable to stand 30 seconds unsupported If a subject is able to stand 2 minutes unsupported, score full points for sitting unsupported. Proceed to item #4. 3. SITTING WITH BACK UNSUPPORTED BUT FEET SUPPORTED ON FLOOR OR ON A STOOL INSTRUCTIONS: Please sit with arms folded for 2 minutes. ( ) 4 able to sit safely and securely for 2 minutes ( ) 3 able to sit 2 minutes under supervision ( ) 2 able to able to sit 30 seconds ( ) 1 able to sit 10 seconds ( ) 0 unable to sit without support 10 seconds 4. STANDING TO SITTING INSTRUCTIONS: Please sit down. ( ) 4 sits safely with minimal use of hands ( ) 3 controls descent by using hands ( ) 2 uses back of legs against chair to control descent ( ) 1 sits independently but has uncontrolled descent ( ) 0 needs assist to sit 5. TRANSFERS INSTRUCTIONS: Arrange chair(s) for pivot transfer. Ask subject to transfer one way toward a seat with armrests and one way toward a seat without armrests. You may use two chairs (one with and one without armrests) or a bed and a chair. ( ) 4 able to transfer safely with minor use of hands ( ) 3 able to transfer safely definite need of hands ( ) 2 able to transfer with verbal cuing and/or supervision ( ) 1 needs one person to assist ( ) 0 needs two people to assist or supervise to be safe 6. STANDING UNSUPPORTED WITH EYES CLOSED INSTRUCTIONS: Please close your eyes and stand still for 10 seconds. ( ) 4 able to stand 10 seconds safely ( ) 3 able to stand 10 seconds with supervision ( ) 2 able to stand 3 seconds ( ) 1 unable to keep eyes closed 3 seconds but stays safely ( ) 0 needs help to keep from falling 7. STANDING UNSUPPORTED WITH FEET TOGETHER INSTRUCTIONS: Place your feet together and stand without holding on. ( ) 4 able to place feet together independently and stand 1 minute safely ( ) 3 able to place feet together independently and stand 1 minute with supervision ( ) 2 able to place feet together independently but unable to hold for 30 seconds ( ) 1 needs help to attain position but able to stand 15 seconds feet together ( ) 0 needs help to attain position and unable to hold for 15 seconds Berg Balance Scale continued.. 8. REACHING FORWARD WITH OUTSTRETCHED ARM WHILE STANDING INSTRUCTIONS: Lift arm to 90 degrees. Stretch out your fingers and reach forward as far as you can. (Examiner places a ruler at the end of fingertips when arm is at 90 degrees. Fingers should not touch the ruler while reaching forward. The recorded measure is the distance forward that the fingers reach while the subject is in the most forward lean position. When possible, ask subject to use both arms when reaching to avoid rotation of the trunk.) ( ) 4 can reach forward confidently 25 cm (10 inches) ( ) 3 can reach forward 12 cm (5 inches) ( ) 2 can reach forward 5 cm (2 inches) ( ) 1 reaches forward but needs supervision ( ) 0 loses balance while trying/requires external support 9. PICK UP OBJECT FROM THE FLOOR FROM A STANDING POSITION INSTRUCTIONS: Pick up the shoe/slipper, which is place in front of your feet. ( ) 4 able to pick up slipper safely and easily ( ) 3 able to pick up slipper but needs supervision ( ) 2 unable to pick up but reaches 2-5 cm(1-2 inches) from slipper and keeps balance independently ( ) 1 unable to pick up and needs supervision while trying ( ) 0 unable to try/needs assist to keep from losing balance or falling 10. TURNING TO LOOK BEHIND OVER LEFT AND RIGHT SHOULDERS WHILE STANDING INSTRUCTIONS: Turn to look directly behind you over toward the left shoulder. Repeat to the right. Examiner may pick an object to look at directly behind the subject to encourage a better twist turn. ( ) 4 looks behind from both sides and weight shifts well ( ) 3 looks behind one side only other side shows less weight shift ( ) 2 turns sideways only but maintains balance ( ) 1 needs supervision when turning ( ) 0 needs assist to keep from losing balance or falling 11. TURN 360 DEGREES INSTRUCTIONS: Turn completely around in a full circle. Pause. Then turn a full circle in the other direction. ( ) 4 able to turn 360 degrees safely in 4 seconds or less ( ) 3 able to turn 360 degrees safely one side only 4 seconds or less ( ) 2 able to turn 360 degrees safely but slowly ( ) 1 needs close supervision or verbal cuing ( ) 0 needs assistance while turning 12. PLACE ALTERNATE FOOT ON STEP OR STOOL WHILE STANDING UNSUPPORTED INSTRUCTIONS: Place each foot alternately on the step/stool. Continue until each foot has touch the step/stool four times. ( ) 4 able to stand independently and safely and complete 8 steps in 20 seconds ( ) 3 able to stand independently and complete 8 steps in > 20 seconds ( ) 2 able to complete 4 steps without aid with supervision ( ) 1 able to complete > 2 steps needs minimal assist ( ) 0 needs assistance to keep from falling/ unable to try 13. STANDING UNSUPPORTED ONE FOOT IN FRONT INSTRUCTIONS: (DEMONSTRATE TO SUBJECT) Place one foot directly in front of the other. If you feel that you cannot place your foot directly in front, try to step far enough ahead that the heel of your forward foot is ahead of the toes of the other foot. (To score 3 points, the length of the step should exceed the length of the other foot and the width of the stance should approximate the subjects normal stride width.) ( ) 4 able to place foot tandem independently and hold 30 seconds ( ) 3 able to foot ahead independently and hold 30 seconds ( ) 2 able to take small step independently and hold 30 seconds ( ) 1 needs help to step but can hold 15 seconds ( ) 0 loses balance while stepping or standing 14. STANDING ON ONE LEG INSTRUCTIONS: Stand on one leg as long as you can without holding on. ( ) 4 able to lift leg independently and hold > 10 seconds ( ) 3 able to lift leg independently and hold 5-10 seconds ( ) 2 able to lift leg independently and hold e" 3 seconds ( ) 1 tries to lift leg unable to hold 3 seconds but remains standing independently. ( ) 0 unable to try of needs assist to prevent fall TOTAL SCORE (Maximum = 56) Tinetti Performance Oriented Mobility Assessment (POMA)* Description: The Tinetti assessment tool is an easily administered task-oriented test that measures an older adults gait and balance abilities. Equipment needed: Hard armless chair Stopwatch or wristwatch 15 ft walkway Completion Time: 10-15 minutes Scoring: A three-point ordinal scale, ranging from 0-2 where 0 indicates the highest level of impairment and 2 the individuals independence. Total Balance Score = 16 Total Gait Score = 12 Total Test Score = 28 Interpretation: 25-28 = low fall risk 19-24 = medium fall risk < 19 = high fall risk * Tinetti ME. Performance-oriented assessment of mobility problems in elderly patients. JAGS 1986; 34: 119-126. (Scoring description: PT Bulletin Feb. 10, 1993) Tinetti Performance Oriented Mobility Assessment (POMA) Balance Tests Initial instructions: Subject is seated in hard, armless chair. The following manoeuvres are tested. 1. Sitting Balance Leans or slides in chair =0 Steady, safe =1 2. Arises Unable without help =0 Able, uses arms to help =1 Able without using arms =2 3. Attempts to Arise Unable without help =0 Able, requires > 1 attempt =1 Able to rise, 1 attempt =2 4. Immediate Standing Balance (first 5 seconds) Unsteady (swaggers, moves feet, trunk sway) =0 Steady but uses walker or other support =1 Steady without walker or other support =2 5. Standing Balance Unsteady =0 Steady but wide stance( medial heals > 4 inches apart) and uses cane or other support =1 Narrow stance without support =2 6. Nudged (subject at maximum position with feet as close together as possible, examiner pushes lightly on subjects sternum with palm of hand 3 times) Begins to fall =0 Staggers, grabs, catches self =1 Steady =2 7. Eyes Closed (at maximum position of item 6) Unsteady =0 Steady =1 8. Turing 360 Degrees Discontinuous steps =0 Continuous steps =1 Unsteady (grabs, staggers) =0 Steady =1 9. Sitting Down Unsafe (misjudged distance, falls into chair) =0 Uses arms or not a smooth motion =1 Safe, smooth motion =2 BALANCE SCORE: /16 Gait Tests Initial Instructions: Subject stands with examiner, walks down hallway or across room, first at usual pace, then back at rapid, but safe pace (using usual walking aids) 10. Initiation of Gait (immediately after told to go Any hesitancy or multiple attempts to start =0 No hesitancy =1 11. Step Length and Height Right swing foot Does not pass left stance foot with step =0 Passes left stance foot =1 Right foot does not clear floor completely With step =0 Right foot completely clears floor =1 Left swing foot Does not pass right stance foot with step =0 Passes right stance foot =1 Left foot does not clear floor completely With step =0 Left foot completely clears floor =1 12. Step Symmetry Right and left step length not equal (estimate) =0 Right and left step length appear equal =1 13. Step Continuity Stopping or discontinuity between steps =0 Steps appear continuous =1 14. Path (estimated in relation to floor tiles, 12-inch diameter; observe excursion of 1 foot over about 10 ft. of the course) Marked deviation =0 Mild/moderate deviation (uses walking aid) =1 Straight without walking aid =2 15. Trunk Marked sway or uses walking aid =0 No sway but flexion of knees or back or Spreads arms out while walking =1 No sway, no flexion, no use of arms, and no Use of walking aid =2 16. Walking Stance Heels apart =0 Heels almost touching while walking =1 GAIT SCORE = /12 TOTAL SCORE (Gait + Balance ) = /28 {< 19 high fall risk, 19-24 medium fall risk, 25-28 low fall risk} Tinetti Performance Oriented Mobility Assessment (POMA)DateDateDateDateBalance Tests: Subject is seated on hard, armless chairSITTING BALANCE Leans or slides in chair =0, Steady, safe =1ARISES Unable without help =0; Able, uses arms =1, Able without using arms = 2ATTEMPTS TO RISE: Unable w/o help=0; Able, requires > 1 attempt =1; Able in 1 attempt =2IMMEDIATE STANDING BALANCE (first 5 seconds) Unsteady (sway/stagger/feet move)=0; Steady, w/ support =1;Steady w/o support =2STANDING BALANCE Unsteady =0; Steady, stance > 4 inch BOS & requires support =1; Narrow stance, w/o support =2STERNAL NUDGE (feet close together) Begins to fall =0; Staggers, grabs, catches self =1; Steady =2EYES CLOSED (feet close together) Unsteady =0; Steady =1TURNING 360 DEGREES Discontinuous steps =0; Continuous steps =1 TURNING 360 DEGREES Unsteady (staggers, grabs) =0;Steady =1SITTING DOWN Unsafe (misjudges distance, falls) =0;Uses arms, or not a smooth motion =1; Safe, smooth motion =2BALANCE SCORE TOTAL  /16 /16 /16 /16GAIT INITATION (immediate after told go) Any hesitancy, multiple attempts to start =0; No hesitancy =1STEP LENGTH R swing foot passes L stance leg =1; L swing foot passes R =1FOOT CLEARANCE R foot completely clears floor =1; L foot completely clears floor =1STEP SYMMETRY R and L step length unequal =0; R and L step length equal=1STEP CONTINUITY Stop/discontinuity between steps =0; Steps appear continuous =1PATH (excursion) Marked deviation =0; Mild/moderate deviation or use of aid =1; Straight without device=2TRUNK Marked sway or uses device =0; No sway but knee or trunk flexion or spread arms while walking =1; None of the above deviations=2BASE OF SUPPORT Heels apart =0; Heels close while walking =1GAIT SCORE TOTAL  /12 /12 /12 /12ASSISTIVE DEVICETOTAL SCORE (BALANCE + GAIT) FALL RISK (minimal >23, Mod. 19-23, High < 19) /28 /28 /28 /28Therapist initials Dynamic Gait Index Description: Developed to assess the likelihood of falling in older adults. Designed to test eight facets of gait. Equipment needed: Box (Shoebox), Cones (2), Stairs, 20 walkway, 15 wide Completion: Time 15 minutes Scoring: A four-point ordinal scale, ranging from 0-3. 0 indicates the lowest level of function and 3 the highest level of function. Total Score = 24 Interpretation: < 19/24 = predictive of falls in the elderly > 22/24 = safe ambulators 1. Gait level surface Instructions: Walk at your normal speed from here to the next mark (20) Grading: Mark the lowest category that applies. (3) Normal: Walks 20, no assistive devices, good sped, no evidence for imbalance, normal gait pattern (2) Mild Impairment: Walks 20, uses assistive devices, slower speed, mild gait deviations. (1) Moderate Impairment: Walks 20, slow speed, abnormal gait pattern, evidence for imbalance. (0) Severe Impairment: Cannot walk 20 without assistance, severe gait deviations or imbalance. 2. Change in gait speed Instructions: Begin walking at your normal pace (for 5), when I tell you go, walk as fast as you can (for 5). When I tell you slow, walk as slowly as you can (for 5). Grading: Mark the lowest category that applies. (3) Normal: Able to smoothly change walking speed without loss of balance or gait deviation. Shows a significant difference in walking speeds between normal, fast and slow speeds. (2) Mild Impairment: Is able to change speed but demonstrates mild gait deviations, or not gait deviations but unable to achieve a significant change in velocity, or uses an assistive device. (1) Moderate Impairment: Makes only minor adjustments to walking speed, or accomplishes a change in speed with significant gait deviations, or changes speed but has significant gait deviations, or changes speed but loses balance but is able to recover and continue walking. (0) Severe Impairment: Cannot change speeds, or loses balance and has to reach for wall or be caught. 3. Gait with horizontal head turns Instructions: Begin walking at your normal pace. When I tell you to look right, keep walking straight, but turn your head to the right. Keep looking to the right until I tell you, look left, then keep walking straight and turn your head to the left. Keep your head to the left until I tell you look straight, then keep walking straight, but return your head to the center. Grading: Mark the lowest category that applies. (3) Normal: Performs head turns smoothly with no change in gait. (2) Mild Impairment: Performs head turns smoothly with slight change in gait velocity, i.e., minor disruption to smooth gait path or uses walking aid. (1) Moderate Impairment: Performs head turns with moderate change in gait velocity, slows down, staggers but recovers, can continue to walk. (0) Severe Impairment: Performs task with severe disruption of gait, i.e., staggers outside 15 path, loses balance, stops, reaches for wall. 4. Gait with vertical head turns Instructions: Begin walking at your normal pace. When I tell you to look up, keep walking straight, but tip your head up. Keep looking up until I tell you, look down, then keep walking straight and tip your head down. Keep your head down until I tell you look straight, then keep walking straight, but return your head to the center. Grading: Mark the lowest category that applies. (3) Normal: Performs head turns smoothly with no change in gait. (2) Mild Impairment: Performs head turns smoothly with slight change in gait velocity, i.e., minor disruption to smooth gait path or uses walking aid. (1) Moderate Impairment: Performs head turns with moderate change in gait velocity, slows down, staggers but recovers, can continue to walk. (0) Severe Impairment: Performs task with severe disruption of gait, i.e., staggers outside 15 path, loses balance, stops, reaches for wall. 5. Gait and pivot turn Instructions: Begin walking at your normal pace. When I tell you, turn and stop, turn as quickly as you can to face the opposite direction and stop. Grading: Mark the lowest category that applies. (3) Normal: Pivot turns safely within 3 seconds and stops quickly with no loss of balance. (2) Mild Impairment: Pivot turns safely in > 3 seconds and stops with no loss of balance. (1) Moderate Impairment: Turns slowly, requires verbal cueing, requires several small steps to catch balance following turn and stop. (0) Severe Impairment: Cannot turn safely, requires assistance to turn and stop. 6. Step over obstacle Instructions: Begin walking at your normal speed. When you come to the shoebox, step over it, not around it, and keep walking. Grading: Mark the lowest category that applies. (3) Normal: Is able to step over the box without changing gait speed, no evidence of imbalance. (2) Mild Impairment: Is able to step over box, but must slow down and adjust steps to clear box safely. (1) Moderate Impairment: Is able to step over box but must stop, then step over. May require verbal cueing. (0) Severe Impairment: Cannot perform without assistance. 7. Step around obstacles Instructions: Begin walking at normal speed. When you come to the first cone (about 6 away), walk around the right side of it. When you come to the second cone (6 past first cone), walk around it to the left. Grading: Mark the lowest category that applies. (3) Normal: Is able to walk around cones safely without changing gait speed; no evidence of imbalance. (2) Mild Impairment: Is able to step around both cones, but must slow down and adjust steps to clear cones. (1) Moderate Impairment: Is able to clear cones but must significantly slow, speed to accomplish task, or requires verbal cueing. (0) Severe Impairment: Unable to clear cones, walks into one or both cones, or requires physical assistance. 8. Steps Instructions: Walk up these stairs as you would at home, i.e., using the railing if necessary. At the top, turn around and walk down. Grading: Mark the lowest category that applies. (3) Normal: Alternating feet, no rail. (2) Mild Impairment: Alternating feet, must use rail. (1) Moderate Impairment: Two feet to a stair, must use rail. (0) Severe Impairment: Cannot do safely. TOTAL SCORE: ___ / 24 Reference: Herdman SJ. Vestibular Rehabilitation. 2nd ed. Philadelphia, PA: F.A.Davis Co; 2000. Shumway-Cook A, Woollacott M. Motor Control Theory and Applications, Williams and Wilkins Baltimore, 1995: 323-324 Appendix Three: Assistive devices and seating considerations for persons with HD Assistive devices for persons with HD People with HD often have problems with walking and balance. This can result from subtle changes in coordination, involuntary movements and the presence of dystonia (awkward posturing of the body). These changes could lead to problems in walking long distances, or increase the number of falls or accidents, which can lead to fractures or other bodily injuries. However, there are a variety of assistive devices available to assist people with HD in these areas. The following page contain pictures of some assistive devices (canes and walkers) that can be helpful to prevent falls and increase the amount of time and distance for walking, while allowing a person with HD to maintain as much independence as possible. When walking becomes difficult for people with HD, a wheelchair may be prescribed. Wheelchairs can be beneficial for daily use or for long distance mobility. People with HD can also choose to use the wheelchair for part of the day (start out the day by walking and then using the wheelchair as the day progress or when fatigue sets in). Common gait impairments SYMBOL 183 \f "Symbol" \s 10 \h Wide base of support SYMBOL 183 \f "Symbol" \s 10 \h Uneven step/stride lengths SYMBOL 183 \f "Symbol" \s 10 \h Dystonia (posturing) of upper extremities and trunk SYMBOL 183 \f "Symbol" \s 10 \h Non-reciprocal arm movements SYMBOL 183 \f "Symbol" \s 10 \h Increased time spend in double limb support SYMBOL 183 \f "Symbol" \s 10 \h Impaired reaction to externally or internally produced perturbations SYMBOL 183 \f "Symbol" \s 10 \h Difficulty ambulating in open environments Techniques/equipment to improve safety with ambulation SYMBOL 183 \f "Symbol" \s 10 \h Rolling walker (weighted or non-weighted) SYMBOL 183 \f "Symbol" \s 10 \h Straight cane SYMBOL 183 \f "Symbol" \s 10 \h Helmet SYMBOL 183 \f "Symbol" \s 10 \h Create a limited, safe area to allow ambulation SYMBOL 183 \f "Symbol" \s 10 \h Provide physical assistance: hand holding; support though hips; use of gait belt  Table A3.1: Walking aids for consideration Canes: Function: to widen base of support and improve balance but do not provide much stability. Types of Canes (shown left to right): standard cane, standard adjustable cane, offset cane, small base quad cane, large base quad cane. Canes may be difficult for patients who have chorea to use. In some cases, adding a small amount of weight to the bottom of the cane may be beneficial. If the cane is hollow, the rubber padding can be removed and weight such as sand or a bag of coins can be added into the shaft of the cane. Indication: Best in early stages of disease when balance impairments are minimal. Walkers: Function: to improve balance, provide greater stability, and help to maintain natural walking pattern Disadvantages are that they can be cumbersome, cannot be used safely on stairs, and can be difficult or awkward to manoeuvre through some areas Modification to standard designs: 4-wheeled walkers with folding mechanism, hand brakes, seats with back rest, and basket (to carry personal items). Weight can also be added to basket to increase resistance if patient is having difficulty controlling steering. Wearing the proper shoes is important because shoes can make a dramatic impact on what an individual is able to do. They provide a foundation for posture. This foundation should be stable and should provide support because it affects balance and walking ability. There are certain features to look for in a shoe that can help to maintain balance and decrease the risk of falling. Because shoes wear down very easily, it is important to buy new shoes every 6 months. The following is a list of what to look for when choosing footwear to promote function safely: Recommendations for choosing dress/casual shoes: Firm heel Forefoot should be bendable Velcro or elastic shoelaces for ease of application Wide heel base for increased stability 1 heel height No thick soles No thick toe grips (tick toe grips and soles can catch and lead to falls) Recommendations for choosing trainer type shoes: High tops recommended for ankle support Sneakers should be leather for support of heel and ankle Velcro or elastic shoelaces for ease of application Wide heel base for increased stability No thick soles No thick toe grips (thick toe grips and soles can catch and lead to falls)  Seating Considerations for Persons with HD Although many people with HD can walk independently or with some assistance, most have at least some difficulty with sitting comfortably. Most people have difficulty sitting in a chair with inadequate back and side support. Many people with HD tend to slide down in their chairs, and often maintain bearing weight through their lumbo-sacral spine as opposed to through the ischial tuberosities and buttocks. Additionally, people with choreic movements are prone to injuries if their chair is not properly padded. Persons with HD, particularly in the middle and later stages, spend a majority of their day sitting. It is important to maintain an upright position for feeding and drinking to minimize risk of aspiration. Proper positioning will also enable people with HD to better interact with their environment. The following suggestions should be considered when determining the optimal seating for a person with HD at any stage: 1. Minimal use of restraints 2. Allow enough room for person to move around freely and without injury 3. Protect from hard surfaces and sharp edges with proper padding 4. Maximize ease of transfers 5. Provide for independent mobility if appropriate 6. Solid, sturdy foot support 7. Appropriate height for use at table or with lap tray Progression from independent ambulation to use of a wheelchair can be very traumatic for the HD person. This is a sign of their continued functional decline and lack of control over their life. Recommending a wheelchair as a primary means of mobility should be approached cautiously by the therapist. This decision should be reached with the consent of the patient, the family and the interdisciplinary team, including psychologist. Allow the person with HD to make their own choices to the extent that their safety and the safety of others are maintained. Table A3.2 Seating related problems and possible solutions for persons with HD PROBLEMPOSSIBLE SOLUTIONSSliding down in chairWedge the seat to decrease hip angle (thigh-trunk segment)Poor postural stabilityUse tilt-in space chair; use seat with non-slip material such as cloth; use non-stick material on vinyl upholstery to prevent sliding; provide adequate foot support; use thick, padded harness/belt around pelvis to secure position; use a lap tray or table to provide upper body supportBruises on arms/legsUse a chair with the least amount of chrome or metal exposed; use thick padding to cover any exposed metal or hard surfaces on the chair; wrap the leg rests with padding; choose a chair which is not too confining and allows room for movementsFalls/leans to the sidesProvide padded lateral supports at head and trunk; provide padded lateral supports through hips and thighs; recline back supportUnable to tolerate upright chair; falls out of standard chairsUse a maximally adjustable, reclinable chair; Change positions frequently (e.g., 10 minutes upright, 10 minutes fully reclined); use pillows, padding to provide extra support/protection; consider use of bean bag chair, hammock, or padded floor bed Table A3.3: Wheelchairs and seating systems for consideration Standard Wheelchairs: The standard wheelchair (self propelling or transit) can be modified with a seat cushion to promote better sitting posture or padding for the armrests and footrests to prevent bruising. For proper support during extended seating a lumbar roll may be beneficial. Modifications to standard wheelchairs: Padding for the armrests to prevent bruisingModifications to standard wheelchairs: Padding for the footrests to prevent bruisingReclining Wheelchair: tilt in space Static seating systems: Tilt-in-space to provide a pivoting system for a reclined, resting position whilst maintaining posture and pelvic stability  Appendix Four: Application of exercise prescription principles: a case report Supervised exercise is well tolerated in an individual with moderate Huntingtons disease: a case report HD is a degenerative disease of the basal ganglia with a major impact on mobility, cognition and behaviour over 15-20 years. People with HD have been shown to be weaker (31), walk less and fall more (72) than an age-matched control group. Evidence from exercise studies in animals (73), healthy people (74) as well as individuals with other neurological conditions (75) suggest that exercise interventions have potential to offer health, social, cognitive and coordination benefits for individuals with HD. To date, there is no reporting of the progression and effect of controlled exercise prescription for people with HD, although exercise is usually considered to be one component of multi-disciplinary rehabilitation for people with HD (20). Adverse effects, namely exercise-induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance have however been reported in one semi-professional athlete at risk for HD when training for a marathon (76). In this single case, excessive training is suggested to have resulted in myopathy in HD before the appearance of other neurological symptoms. Investigation of the exercise response in this condition is therefore indicated. We examined the feasibility and effect of delivering aerobic and anaerobic exercise in an individual with this complex condition. A 39 year old female, weight (74 kg); height (157 cm), with genetically confirmed mid-stage HD, completed a 7 week long supervised exercise programme. She demonstrated minimal chorea and no marked behavioral or cognitive impairment, was living in her own home but requiring moderate assistance with activities of daily living. Informed consent was obtained. Outcome assessment was conducted by an independent physiotherapist at baseline and after 8 weeks. Balance and functional mobility (Berg balance scale (BBS) and Timed Up and Go (TUG)) (77), maximum voluntary contraction of the knee extensor and flexor muscle groups (Powertrak Hand-held dynamometer; JTech Medical Utah, USA) self reported falls in the previous 30 days and Physical Activity (International Physical Activity Questionnaire-Long Form (IPAQ-LF) was assessed. The exercise intervention consisted of aerobic and anaerobic training delivered in a community gym twice a week for seven weeks. Aerobic training was performed with the participant seated in a recumbent cycle (LifeFitness 95 Ri, Illinois, USA). The participant was instructed to cycle so that heart rate (HR) was maintained within an aerobic training zone (55-85 percentage age predicted maximal heart rate % APMHR) (78). Once 20 minutes continuous exercise duration was attained, duration was gradually increased up to 40 minutes. Resistance was manipulated to maintain HR within an aerobic zone. Rating of perceived exertion (RPE, CR10 scale) and HR were recorded (79). Anaerobic strength training was performed at an initial resistance so that 10 repetitions could be performed. Repetitions were progressed, until 2 full sets of 10 could be performed at a given resistance with a 2 minute rest between sets. Resistance was then increased with a resultant decrease in repetitions and the protocol progression then repeated. Leg extension was performed on a seated leg press (LifeFitness). Sit to stand exercises were performed from a standard chair. Functional core stability was trained during anaerobic upperlimb training with exercises [double arm pull-down, a double arm lateral raise, single arm rotation (both sides)] initially performed seated but progressed to standing after 5 sessions using a Dual Cable Crossover resistance machine (LifeFitness). Work done per session is reported by multiplying the weight resistance by the number of completed sets. The resistance for sit to stand was calculated from body weight. The participant attended all sessions with no adverse symptoms reported or noted. Valid initial assessment of fitness was not possible due to an inability to attain independent cycling cadence for an adequate duration. RPE rating was variable and at variance with that expected for a given HR (79). Low aerobic exercise intensity was achieved; %APHRM (mean SD, 64 4%). Increasing the duration of aerobic sessions beyond 20 minutes continuous cycling was challenging (mean SD, 33 8 mins). Maximal achievable pedaling cadence progressed from 55 to 101rpm (mean SD 73 20rpm). Anaerobic exercises were steadily progressed for all muscle groups. Change in volume of work done (kg) from the second session to the final session was as follows: leg press 2075kg, sit to stand 740kg, trapesius 62.5kg, latissimus dorsi 62.5 kg, transversus lumborum 62.5kg. Change in balance, strength and mobility over the seven weeks are reported in Table 1. Table 1 Functional outcomes MeasureAssessment1Assessment2Timed up and go (sec) 17.913.2Berg Balance Scale 18/5644/56Knee extensor strength R (N)123160Knee extensor strength L (N)147151Knee flexor strength R (N)114121Knee flexor strength L (N)9899Reported falls (number in previous 30 days)30Participation in physical activity/week (mins) (IPAQ-LF)3961952Time sitting/week (mins) (IPAQ-LF)3360900 We have demonstrated that it is feasible to deliver a supervised progressive training programme that includes both aerobic and anaerobic components in an individual with HD. Aerobic training intensities were achieved throughout, but increasing training duration beyond 20 minutes duration was challenging. RPE was not a valid intensity measure and its use requires further examination in people with HD. In this single case, improvements in strength, balance, self reported physical activity and self reported falls occurrence and no adverse side effects were observed. Our findings are encouraging and support further investigation into therapeutic exercise interventions for people with HD. Appendix Five: Suggestions for general physical conditioning activities The following are some exercises that can be done to improve general conditioning and physical fitness. Ideally, cardiovascular exercises should be done for at least 20 minutes a day, 3 a week. It is important to maintain and potentially increase caloric intake after starting any form of exercise. The person with HD should discuss any exercise programme with theor doctor before starting out. Walking is a good way to promote cardiovascular health. It is easy to do and can be done anywhere. Some places that are good to walk are on a track, around the block, or around the mall. Start with the person with HD walking for 10 minutes a day 3 times a week, slowly at first, and gradually progressing by increasing walking speed/ pace. Walking pace should be comfortable (Use the rate of perceived exertion scale (RPE) shown below to help determine intensity level of exercise). Eventually, walking should be fast enough to build up a sweat but slow enough to not be out of breath (if walking with a companion, the person should be able to carry on a conversation with him or her). After completion of the walk, the person with HD should walk slowly for at least 1 or 2 minutes to cool down and not stop abruptly. Once the person with HD is comfortable walking for 10 minutes a day, they can try to increase the time to 15 minutes and finally to 20 minutes. They should be advised that if they feel short of breath or cannot breathe, to stop immediately, rest and see their doctor. Using an exercise bike is another good way to improve cardiovascular health. If the person with HD does not have a bike at home, they could consider using one at a local gym. Once again, the goal is to reach 20 minutes of biking 3 times a week. Start out by doing 10 minutes of biking and then gradually increase the amount of time to 20 minutes. As with walking, starting off slowly, and gradually pick up the pace, whilst choosing a comfortable resistance is essential. Borg RPE Scale 67 Very, very light8 9 Very light10 11 Fairly light1213 Somewhat hard1415 Hard1617 Very hard18 19 Very, very hard20  The scale starts at a low end of 6 and ends at a high end of 20. If exercising at a level around 6, this is very, very lightly. Similarly, if exercising at level 20, this is very, very hard. Ideally, the person with HD should be exercising at a level that is somewhere in the middle or at a level that is somewhat hard (around 13). Exercising in the pool is also a good way to achieve cardiovascular training, as well as improve coordination and balance. To start with, the person with HD might want to try some exercises in the pool; for example standing in the water and kicking legs, one at a time, out to the sides. This can also be done with the arms. If able, the person with HD can swim a few laps around the pool. If they have difficulty swimming, they could try using a kick board, which supports the upper body. If your local gym has any organized pool classes, such as Aqua-aerobics, or programs offered for people with disabilities, the person with HD might consider enrolling in them but be sure to enquire about the exact nature of the exercises and whether they are appropriate for people with HD. Appendix Six: Frequently asked questions Q - Can someone with HD manage with a walking aid or electric wheelchair? A This is very dependent on the individual; cognitively people with HD struggle with divided attention and do not have the co-ordination or concentration to use a walking aid. Physically people can struggle with walking aids if their chorea is severe meaning that they cant place the stick or frame and tend to pick them up instead. Walking sticks: In the early stages of the disease some people like to use a walking stick, this provides support and can also to highlight the fact that they have a disability and are not drunk. If people are struggling with the placement of the walking stick weights in the bottom can be useful. Walking frames: Those who do use a frame tend to do better with a frame with wheels as this is easier to co-ordinate than a standard frame. Some people find they can manage these when they are on a flat surface but cant cope with steps up to the pavement etc. Very few people manage an electric wheelchair or scooter due to the need for divided attention. Those who do use one tend to need constant supervision and a large and clear area. Q. My client is falling from their chair when they are trying to get up for a cigarette, we cant constantly supervise what can we do? A These issues often arise in the mid stages of HD where someone is still mobile but falling, they are focusing on the thing they want (here the cigarette) and are often unaware of the risks. These cases require good behavioural management and routine e.g. agreeing on half hourly cigarettes when there can be a carer there to supervise. This would also be a good time to discuss protective clothing with your client such as knee / elbow pads and helmets. Q My client is kicking out due to spasms in her legs when she is using the shower chair. A This could be behavioural rather than physical, that is the person kicking out as it is their only way of communicating the fact that they dont like the situation they are in? Consider: Talking to your client to see if you can establish whether they are unhappy in the shower (if communication is difficult consider involving the Speech and Language Therapist). Looking into how the person is being showered, often people are happier with one carer rather than another and it is worth considering what they are doing differently. People with HD dont like surprises and need regular re-assurance. Try and get into a good routine where you are prepared for the shower before starting and guide the person with whats happening next, how long you have got left etc Q My client has severe chorea; he is getting trapped and hurting himself on the cotsides A People with severe chorea may find themselves in all sorts of positions in the bed and can get trapped in standard cotsides. Specialist equipment can help e.g. inflatable cotsides that surround the bed and link to a sheet under the mattress meaning that the person cant get trapped. Medications are available for chorea but the side effects should always be considered this requires discussion with the neurologist. Q My client can no longer stand and transfer but is going into spasm when using this hoist, how can we transfer him safely? A- First it is important to make sure that the hoist is being used properly, anti-spasm slings are available and some manufacturers will make bespoke slings considering your clients needs. Carers often find that ceiling hoists are more appropriate for people with HD as they are fixed. References 1. Quarrell O. Huntington's Disease: the facts. Oxford: Oxford University Press; 1999. 2. Quarrell O, Cook B. Huntington's Disease. Physical Management in Neurological Rehabilitation. 2nd ed. London: Elsevier Mosby; 2004. 3. Rosenblatt A, Ranen N, Nance M, Paulsen J. A Physicians Guide to The Management Of Huntington's Disease. 2nd ed. New York: Huntington's Disease Society of America; 2000. 4. PS H. The epidemiology of Huntington's disease. Human Genetics 1992; 89(4):365-76. 5. Morrison P, Johnston W, Nevin N. The epidemiology of Huntington's disease in Northern Ireland. 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Training specificity, graft development and graft-mediated functional recovery in a rodent model of Huntington's disease. Nature Reviews 2005; 132(3):543-52. 42. Berhman AL, Cauraugh JH, Light KE. Practice as an intervention to improve speeded motor performance and motor learning in Parkinsons disease. 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MMMM~~ $Ifgd#!xkd%$$Ifl0c% t0d&644 lafMMMMMMMM N N9Nm>zeT</jvhh#!CJU^JaJmH sH hh#!CJ^JaJmH sH )jhh#!CJU^JaJmH sH jh#!0J!U h-)h#!jh-)h#!0J!Uh#!CJaJh">h#!5CJ\aJh">h#!CJaJ hY'Xh#!!jhY'Xh#!0J!CJUaJh#!hH1h#!CJUhsgh#!CJmHsH h#!CJhi<h#!CJmHsH]3 z X"$$%&&h''()**V+,,I--.gd#!ogical Sciences 2000; 174:127-36. 43. Gentile A. Skill acquisition: Action, movement, and neuromotor processes. In: Carr JS, R, editor. Movement science: Foundations for physical therapy in rehabilitation. 2nd ed. Gaithersburg, MD: Aspen; 2000. 44. Rao A, Muratori L, Louis E, Moskowitz C, Marder K. Spectrum of gait impairments in presymptomatic and symptomatic Huntington's disease. Mov Disord 2008; 23(8):1100-7. 45. Bassile C, Bock C. Gait training. In: Oatis RC, editor. Gait analysis: theory and application. St. Louis: Mosby; 1995. 46. Delval A, Krystkowiak P, Delliaux M, Blatt J, Derambure P, Deste A, et al. Effect of external cueing on gait in Huntington's disease. Mov Disord 2008; 23(10):1446-1452. 47. 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Kosinski C, Schlangen C, Gellerich FN, Gizatullina Z, Deschauer M, Schiefer J, Young AB, Landwehrmeyer GB, Toyka KV, Sellhaus B, Lindenberg KS. Myopathy as a first symptom of Huntington's disease in a Marathon runner. Mov Disord 2007; 22(11):1637-40. 77. Wade DT. Measurement in Neurological Rehabilitation. Oxford: Oxford University Press; 1992. 78. ACSM, editor. ACSM's Guidelines for exercise testing and prescription. 6th ed. ed. Philadelphia: Lippincott Williams & Wilkins; 2002. 79. Dawes H, Scott, O.M., Roach, N.K., Wade D. Exertional symptoms and exercise capacity in individuals with brain injury. Disabil. Rehabil. 2007.  Reproduced with permission from Dr Sarah Tabrizi PhD FRCP Reader in Neurology and Neurogenetics and Honorary Consultant Neurologist National Hospital for Neurology and Neurosurgery, Queen Square, London  Reproduced from Folstein SE. Huntingtons Disease: A disorder of families. Baltimore, MD: The Johns Hopkins University Press; 1989.   HYPERLINK "http://www.nice.org.uk/usingguidance/commissioningguides/pulmonaryrehabilitationserviceforpatientswithcopd/specifyingapulmonaryrehabilitationserviceforpatientswithcopd/mrcdyspnoeascale/mrc_dyspnoea_scale.jsp" http://www.nice.org.uk/usingguidance/commissioningguides/pulmonaryrehabilitationserviceforpatientswithcopd/specifyingapulmonaryrehabilitationserviceforpatientswithcopd/mrcdyspnoeascale/mrc_dyspnoea_scale.jsp   HYPERLINK "http://www.pulmonaryrehab.com.au/pdfs/resourcesPatient%20Assessment_BorgScale.doc" http://www.pulmonaryrehab.com.au/pdfs/resourcesPatient%20Assessment_BorgScale.doc  Reproduced with permission from ME Busse1 H Dawes2,5, A Meaney2 and AE Rosser 3;4 1 Cardiff University, School of Health Care Studies, Department of Physiotherapy, Ty Dewi Sant, Heath Park, CF14 4XN 2 Movement Science Group, School of Life Sciences, Oxford Brookes University 3 Department of Neurology, School of Medicine, Cardiff University Heath Park, Cardiff CF14 4XN 4 Brain Repair Group, School of Biosciences, Cardiff University, Museum Avenue, Cardiff CF15 8DQ 5 Department of Clinical Neurology, University of Oxford      SHAPE \* MERGEFORMAT  EHDN Physiotherapy Working Group PAGE  PAGE 63 PAGE 81 1 heel height .H//01=225334566\77y899:;;5<6<7<8<== "gd#! 0^`0gd#!gd#!m>n>=?>???@?A?B??????????@@@@!@"@*@-@7@8@G@J@BB BӸwncWcWcWcWcShE-hAdh#!CJH*aJhAdh#!CJaJhXGh#!CJhh#!CJaJ h#!^Jhh#!0JCJ^JaJ'j+hh#!CJU^JaJhh#!CJ^JaJ!jhh#!CJU^JaJjh#!0J!Uh#!$hh#!0JCJ^JaJmH sH )jhh#!CJU^JaJmH sH =????K@@ AlAABBB B B BBBBBBB2BSBTBUBVB$a$gd#!$a$xxgd#!gd#!dhgd#!  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