Huntington's Disease: Case Study

Abstract and Purpose

This case study was developed by Physiotherapy students (PT1) at Queen's University with the intention of increasing our knowledge of Huntington's Disease and neurological conditions as part of our PT858: Neuromotor Function II.

The purpose of this case study is to demonstrate an example of physiotherapy management for an individual in the early intermediate stage of Huntington’s Disease (HD), approximately 4 years post diagnosis. This case study illustrated a patient who presented with motor, emotional and cognitive impairments as a result of HD. Patient specific problems were noted and associated short and long term goals were developed to manage current symptoms as well as mitigate disease progression. Treatment for the patient included functional strengthening, aerobic endurance, and education. Referrals for other healthcare professionals such as clinical psychologist, occupational therapist, and speech language pathologist were noted in order to help manage the multi-faceted presentation of his disease beyond the scope of physical therapy. The study will help students gain a comprehensive understanding of typical clinical presentations, physiotherapy assessments, interventions, interdisciplinary management, and other relevant factors related to the disease.

Introduction to Huntington's Disease

Pathophysiology

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Clinical Presentation

Huntington's typically presents a...

- include symptoms

Subjective Examination

Patient Profile

Barry Johnson is a 38 year old male that has been diagnosed with Huntington’s Disease (HD).

History of Present Illness (HPI)

He was initially diagnosed 2 years ago following the onset of concerning symptoms including mood swings, social withdrawal, apathy, difficulty concentrating, memory lapses, general clumsiness. After meeting with his family doctor, Barry was referred to the neurologist which confirmed the diagnosis of HD. Mr. Johnson is currently in the early-intermediate stages of his disease, demonstrating difficulty with various motor activities including walking, trouble holding onto things, and other fine motor tasks. Barry is generally a happy person, but has been dealing with depressive episodes since the onset of his disease, as well as increased irritability and agitation. He also notes feeling a little more cloudy in his mind and forgetful of certain details regarding responsibilities at work and at home, which leads to him taking more time on what used to be simple tasks.

Past Medical History (PMHx)

n/a

Medications (Rx)

Mr. Johnson was prescribed 25 mg per day of Valium (Diazepam) by his doctor following the onset and increase in depressive symptoms as well as some initiation of chorea and dystonia. However, the combination of impaired gait, increasing chorea and emotional/cognitive dysfunction may indicate his medications need to be adjusted.

Health Habits (HH)

Mr. Johnson does not smoke cigarettes, occasional scotch on the weekend, or use recreational drugs.

Family History (FHx)

No previous family history of cancer, CVD, or any genetic disease.

Social History (SHx)

Mr. Johnson has been working in his family landscaping business for the last 10 years. While his job is largely focused on the management side of the business, he did engage in active gardening somewhat often to which he has been having more difficulty with as the disease has progressed. He currently employs other colleagues to do more of the hands-on work and has transitioned towards a more passive role in the head office. At home, Barry has been experiencing trouble with doing ADLs independently which includes: self cleansing, house chores, and navigating his 2 story home. He lives at home with his wife, Candice, and daughter, Anita in their two story home. He noted that he and his wife have been arguing more than they used to in their marriage. Aside from his semi-active landscaping job, Mr. Johnson used to be an avid soccer player, and regularly joined his friends on the weekends to play in a men's recreational league. While he is no longer playing, he tries to engage in some form of activity on 2 of his evenings during the week after work, which consists usually of walks outside without a gait aid with his daughter alongside. Additionally, Barry volunteered with the local minor soccer association as a house league coach 3 nights a week, but the progression of HD and functional and restrictions, alongside his increased self-consciousness of his condition, have reduced his ability to be involved all together.

Past Functional History (FnHx)

Prior to his diagnosis and onset of symptoms, Barry was a fully independent and active person. He was extremely active and hands-on in his work, doing chores in his home, as well participating in recreational activities on a weekly basis. He was fully independent in all ADLs and aspects of mobility. Up until initial consultation, Barry has not been using a gait aid to ambulate, however has experienced a number of trips and minor falls while at home and at work.

Current Functional Status (FnSt)

Barry has experienced a number of instances of instability in recent memory, including stumbling at work and at home. His motor function has been impaired as his chorea has become more pronounced at this stage of his disease progression, which has exacerbated his depression, making him feel more self conscious at work and in his personal life. Barry is not fully independent with mobility and ADLs at this point, and can not engage in his work and recreation as he used to. Barry definitely feels more fatigued with longer periods of activity than he used to.

Current Interventions

Barry is planning on attending physical therapy to manage his symptoms and improve his quality of life. He will also be attending counseling and support groups to help him cope with the emotional and psychological effects of the disease.

Goals

Mr. Johnson would like to sustain and or improve independence in his ADLs and balance during ambulation, as well as generally more as ease and comfort with the manifestation of the disease. Barry does not feel fully comfortable emotionally in social settings, and would like to learn to control his disease and learn compensatory strategies so that he can engage in social settings as much as possible.

Objective Examination

Observation

On observation, Mr Johnson appears to be sitting with an upright posture, consciously aware of the setting he is in. He does appear to have slight fidgets as if he is uncomfortable with the static sitting on the plinth. He has no noticeable atrophy of the the U/E and L/E

Muscle Strength Testing

MMTs for the U/E and L/E were tested in order to assess possibly strength deficits that might be resulting in Mr. Johnson’s impaired gripping ability as well as trouble with ambulation.  Mr. Johnson displayed weakness/reduced grip strength bilaterally (3/5), as well as slightly decreased strength in the knee flexors and extensors (4/5). All other muscle groups were strong. These results allow for an intervention program to be designed to address specific deficits in strength as well as sustain others to prevent decline with disease progression.

Balance

As addressed during intake, Barry deals with instability during ambulation. The Berg Balance Test was performed by the patient, as it has been shown to be valid and reliable in assessing this portion of deficit in people with HD. Barry achieved a score of 32 on the test, indicating an increased risk for falls with HD.

Gait

A general gait assessment was done with Mr. Johnson following his subjective examination. Gait was observed as the patient was walking into the consultation to try and see natural deficiencies, if any. Barry was most definitely unstable walking in and was not confident in walking through this new environment swiftly. As a result, the Timed Up and Go (TUG) test was performed, so that this motion again that was observed when getting up from the waiting room and coming to the plinth could be clinically documented. The TUG test has been well validated for improving physical functioning in people with manifest HD which is why it was used. The test involved standing up from the chair, walking 3 m, turning around, and then returning to the chair. The test is done two times and the score is averaged. Barry completed the test in 14 secs, which indicated his risk for increased falls with HD. In addition, the 10m walk test was performed to test the patients speed which seemed to be limited when entering the consultation. Patient had a 0.81 m/s speed, which was indicative of lower speeds for his age group and increased falls risk.

Cognition/Emotional/Mental State

Due to Mr. Johnson’s expression of some of the emotional and mental challenges that he experiences as a result of his disease, it was determined that it would be appropriate to use the SF-36 questionnaire to measure quality of life and level of participation. It was a quick form which was helpful to save time for other portions of the consultation, but had large validity and reliability for HD which is why it was used. Barry scored a 47 on the test, indicating he is on the lower side of disability.  

Hypertension

One comorbidity that was screened in Mr. Johnson was for the presence of hypertension. Hypertension has been shown to be a modifiable cardiovascular risk factor that plays a role in the disease severity and progression in HD. It has been shown that patients with hypertension have worse cognitive function, higher depression scores, and more advanced motor progression over time. It also appears as though taking antihypertensive medication has less motor, cognitive, and functional impairment compared to those patients with untreated hypertension.

Outcome Measures

The Berg Balance Scale

The Berg Balance Scale (BBS) is a 14-item list used to determine an individual’s level of balance through several different balance tasks. Each item is scored on a five-point scale of 0 to 4, with 0 being the lowest level of balance and 4 being the highest level (Max score of 56 overall). Items of the BBS involve tasks in sitting and standing for static, transitional, and challenging dynamic positions. In a study by Quinn et al. (2013), the BBS and several other outcome measures were tested for reliability and minimal detectable change (MDC) for evaluating physical functioning in individuals across all stages of HD. Test-retest reliability of the BBS was found to be suitable (>0.90) for individuals across manifested stages of HD. Furthermore, the BBS had a low MDC indicating a sensitive test. From having both high test-retest reliability and a low MDC, it can be inferred that the BBS is a valid and reliable test for measuring physical function levels in individuals with HD. This outcome measure specifically targets the ICF category of Body Structure and Function (Impairments), and will help to inform on the patients balance deficits.

• SOURCE: Quinn, L., Khalil, H., Dawes, H., Fritz, N. E., Kegelmeyer, D., Kloos, A. D., Gillard, J. W., & Busse, M. (2013). Reliability and minimal detectable change of physical performance measures in individuals with pre-manifest and manifest Huntington disease. Physical Therapy, 93(7), 942–956. https://doi.org/10.2522/ptj.20130032

Huntington's Disease Activities of Daily Living (HD-ADL) Scale

The Huntington's Disease Activities of Daily Living (HD-ADL) scale is a 17-item informant-completed instrument for rating adaptive functioning in Huntington's disease (HD) patients. Principal components factor analysis of the HD-ADL revealed four factors (General Functioning, Domestic Activities, Home Upkeep, and Family Relationships). The HD-ADL scores correlate with Shoulson and Fahn's total functional capacity (TFC) index (r = -0.89). The HD-ADL scale is a reliable and valid instrument for assessing adaptive function in HD patients. This scale is utilized by the informant who is familiar with the patient's level of functioning. The tool allows the clinician to obtain an indication of the severity of the patient's functional disability, as well as monitor therapeutic interventions. This outcome measure specifically targets the ICF category of Activity (Limitations), and will help to inform on the patients ability to perform ADLs and self hygiene.

• SOURCE: 1. Bylsma FW;Rothlind J;Hall MR;Folstein SE;Brandt J; Assessment of adaptive functioning in Huntington’s disease [Internet]. U.S. National Library of Medicine; [cited 2023 May 11]. Available from: https://pubmed.ncbi.nlm.nih.gov/8474487/

Short Form 36 (SF-36) Scale

SF-36: This patient questionnaire measures quality of life and level of participation. The 36 questions are grouped into 8 sub-scales (physical functioning, role limitations due to physical problems, bodily pain, general health perceptions, vitality, social functioning, role limitations due to emotional problems, and mental health) (Physiotherapy Outcome Measures in Huntington Disease). The SF-36 tool is an excellent measure for assessing QoL and participation for those with HD because of the far reaching inventory looking at many of the facets of life that are affected by the disease. As well, it has a robust construct validity and test-retest reliability which makes it highly useful for monitoring effects of disease throughout its course (https://pubmed.ncbi.nlm.nih.gov/15389986/). From a realistic standpoint, the SF-36 is a brief and quick measure to administer and, therefore, easier for patients at various stages of HD to fill out. This outcome measure specifically targets the ICF category of Participation (Restrictions), and will help to inform on the patients health related quality of life.

Problem List and Associated Short (STG) and Long Term (LTG) Goals

1) Body Structure and Function:

Problem List

• Cognitive deficits
• Psychosocial issues
• Chorea
• Pain
• Balance deficits
• Fine motor deficits

Goals

Mr. Johnson demonstrated balance deficits during the assessment, which can explain his initial reporting of difficulties with walking as well as general clumsiness. This is not unexpected for a patient diagnosed with Huntington’s disease, as progressive worsening of balance is a common sign associated with this condition (Cruickshank et al., 2018). Mr. Johnson received a score of 32 on the BBS which indicates an increased risk of falls (Busse, 2009).

• STG #1: By 6 weeks, Mr. Johnson will demonstrate an increase on his BBS scores equivalent to the minimal detectable change (MDC = 5) for individuals with middle-stage Huntington’s disease (Quinn et al., 2013).
• LTG #1: By 12 weeks, Mr. Johnson will achieve a score greater than 40 on the BBS which is above the threshold that identifies fall risk for individuals with Huntington’s disease (Khalil et al., 2013).

Busse, M. E., Wiles, C. M., & Rosser, A. E. (2009). Mobility and falls in people with Huntington's disease. Journal of neurology, neurosurgery, and psychiatry, 80(1), 88–90. https://doi.org/10.1136/jnnp.2008.147793

Cruickshank, T. M., Reyes, A. P., Penailillo, L. E., Pulverenti, T., Bartlett, D. M., Zaenker, P., Blazevich, A. J., Newton, R. U., Thompson, J. A., Lo, J., & Ziman, M. R. (2018). Effects of multidisciplinary therapy on physical function in Huntington's disease. Acta neurologica Scandinavica, 138(6), 500–507. https://doi.org/10.1111/ane.13002

Khalil, H., Quinn, L., van Deursen, R., Dawes, H., Playle, R., Rosser, A., & Busse, M. (2013). What effect does a structured home-based exercise programme have on people with Huntington’s disease? A randomized, controlled pilot study. Clinical Rehabilitation, 27(7), 646–658. https://doi.org/10.1177/0269215512473762

Quinn, L., Khalil, H., Dawes, H., Fritz, N. E., Kegelmeyer, D., Kloos, A. D., Gillard, J. W., & Busse, M. (2013). Reliability and minimal detectable change of physical performance measures in individuals with pre-manifest and manifest Huntington disease. Physical Therapy, 93(7), 942–956. https://doi.org/10.2522/ptj.20130032

2) Activity Limitations:

Problem List

• Walking/mobility deficits → chorea causing involuntary and jerky movements
• Difficulty eating and drinking
• Preparing and cooking food
• Using the bathroom (toileting)
• Speaking
• Dressing

Goals

One of Mr. Johnson’s most problematic tasks is independently toileting, which he has been struggling with as the disease progresses. Specifically with symptoms such as chorea, dystonia and fine motor deficits, Barry has required assistance with performing many activities of daily living. One of the aspects of independently toileting that Barry struggles with is moving from standing to sitting, and vice versa. While performing the sit to stand movement, lack of postural control produces difficulty in performing the task in individuals with HD (Panzera et al., 2010).

STG #1: By 6 weeks, Mr Jonhson will demonstrate an increased score of at least 2.3 seconds (MCID) on the Five Times Sit to Stand Test.

LTG #1: By 12 weeks, Mr. Johnson will be able to conduct all of the movements necessary to independently perform toileting in his home environment, as measured by a score of at least 6 on the toileting portion of the Functional Independence Measure (FIM).

As Mr. Johnson has progressed from early to mid-stage HD, his postural balance and stability, as well as coordination has decreased. The main structural impairments like chorea and dystonia have also worsened. This has resulted in Mr. Johnson recently experiencing a couple of falls and the need for the prescription of a gait aid. Mr. Johnson has been presenting with reduced gait speed, step length, cadence, and difficulty with turning (Bilney & Pearce, 2013). Provision of gait aids can be difficult with HD patients, due to chorea, fine motor issues, dystonia and attentional issues (Bilney & Pearce, 2013). Due to these difficulties with ambulation, Mr. Johnson is being prescribed a 4-wheeled walker (4WW) to improve gait speed and reduce falls risk (Kloos et al., 2012).

STG #1: By 2 months, Mr Johnson will demonstrate increased gait speed while ambulating with a 4WW using the 10 Metre Walk Test. The patient will achieve a gait speed of 1.27 m/s, which would be a MCD based on the initial recorded gait speed (Moore et al., 2018).

STG #2: By 3 months, Mr. Johnson will be able to safely ambulate 300m using a 4WW within 6 minutes as measured by the 6 Minute Walk Test.

LTG #1: By 6 months, Mr. Johnson will be able to maintain the use of a 4WW with no reported falls and ability to ambulate safely within the community. Patient will report falls and perception of falls risk using the Fall Risk Assessment Tool.

Moore, J. L., Potter, K., Blankshain, K., Kaplan, S. L., O'Dwyer, L. C., & Sullivan, J. E. (2018). A core set of outcome measures for adults with neurologic conditions undergoing rehabilitation: a clinical practice guideline. Journal of Neurologic Physical Therapy, 42(3), 174.

3) Participation Restrictions:

Problem List

• Reduced ability to aid family in ADLs
• Symptoms of depression and anxiety due to decreased participation in daily activities resulting in social isolation/withdrawal
• Physical and psychosocial restrictions to volunteering
• Increasing caregiver burden on family as disease progresses

Goals

As Mr. Johnson is within the early-intermediate stage of HD, his functional deficits are not restricting him from completing his day-to-day tasks with his family’s landscaping company, and have restricted his limits to completing hands-on work. Additionally, he has begun to have issues with ADLs, resulting in anxiety/depression and overall withdrawal from ADLs in general. One of the participation restrictions that weighs on him most heavily would be his self-implicated reduction in volunteering with his local soccer association as a coach for minor soccer league teams, as he feels his physical symptoms and increased self-consciousness of presentation of HD will hinder his ability to be involved with coaching at all

STG #3: Within 12 weeks, improve SF-36 score by the MCID through implementation of group exercise intervention

LTG #3: Within 6 months, return to 50% of his volunteering/coach capacity with the soccer club (prior to onset of physical and psychosocial HD symptoms), up to 3 days/week

Clinical Impression (Diagnosis and Prognosis)

Mr. Johnson is a 38-year-old male, who was diagnosed with an intermediate stage of Huntington’s Disease 4 years ago following the onset of concerning symptoms such as cognition, focus, and general motor clumsiness, which led to his referral for physiotherapy by his primary physician. Mr. Johnson presents with increased error/clumsiness/difficulty during continuous tasks such as walking, and trouble with discrete tasks with fine-motor skills such as gripping and holding things. As well, Mr. Johnson demonstrates signs of chorea and decreased coordination, which is apparent in his job as a gardener, and now manager.  Mr. Johnson is likely experiencing these deficits in cognition and motor function as a result of atrophy to the striatum, leading to hyperkinesia. Mr. Johnson has been limited in his ability to do tasks required for work as well as general quality of life and self care. While he is not completely independent, Mr. Johnson is likely to progress on a declining curve of function with his HD diagnosis. Due to the nature of his disease, Mr. Johnson will be closely monitored as falls risks, weakness, emotional volatility, cognitive decline are all possible disease outcomes that can affect the patient. Mr. Johnson deals with emotional trauma associated with his diagnosis and chorea, which is a negative factor for his prognosis. However, aside from his diagnosis, Mr. Johnson is an otherwise healthy male with relevant comorbidities, which is a large positive prognostic factor for his ability to mitigate the progression of the disease and engage in prehabilitation/physiotherapy. While Mr. Johnson will not be cured from HD, he is most definitely an eligible candidate for PT, which will help reduce the impact of the disease by ensuring strength, tone, balance, functional mobility, and ability to perform ADLs in a compensatory manner are mastered. Mr. Johnson will be fitted for a 4 wheeled walker to assist with his imbalance and risk of falls. Mr. Johnson will continue with out-patient rehab on a regular basis until further notice and change in condition and or abilities.

Treatment Plan for Identified Goal

Type	Exercises	Frequency	Intensity	Time	Progression	Target of Intervention
Aerobic (within community gym environment)	Stationary cycle	1x/ week	65% of age-predicted max HR or RPE of 4-6	20 minutes	Increase by 5 minutes as comfortable (reduced RPE) up to 30 minutes
Anaerobic (within a community gym environment)	Leg press, leg extension, lateral pull down, hamstring curl, calf raises	1x/ week	60% of 1-RM for each exercise	1 sets, 10 reps,	Increase to at least 2 sets, 8-12 reps, 2 minute rest between sets
Walking Program (from home)	Gait training regiment with walker	1x/ week	4 on RPE	10 minutes	Increase by 5-minute increments as comfortable (reduced RPE)	Increased gait speed, ambulatory distance
Balance (from home)	Stand with feet together Tandem stance Forward lunges Side lunges	3x/week	Low to moderate	Stand with feet together Eyes open for 30s, eyes closed 30s. Tandem stance Complete for 30s Single leg stance 15 seconds or until balance is lost Forward lunges 8 repetitions with both legs, 3 sets Side lunges 8 repetitions, 3 sets, both legs
Upper and Lower Extremity ROM

Assistive Technology to Treatment Plan

Innovative technology mediated tools can be practically implemented alongside an intervention plan to complement and even enhance the approach. This may yield apparent and potentially significant results. In a 38 year old patient, Barry Johnson, a diagnosis of HD has been provided. He presents with difficulty with various motor tasks, bilateral chorea, decreased coordination, difficulty ambulating, and gripping and holding. These symptoms directly impact Barry’s quality of life, as he often feels self-conscious, and would therefore like to manage his symptoms via physiotherapy. Technology-mediated tools can be implemented in a variety of different ways, which can complement and enhance intervention approaches for individuals with a neurodegenerative disease such as Barry (Brose, 2010).

A technology mediated tool could be the use of assistive robotics. In the case of Barry Johnson, it is clear that he has difficulties with motor tasks and movement, as do most patients with HD. Assistive robotics may allow individuals, like Barry, to be physically and socially active, aiding them to perform activities independently and improve their quality of life (Uriel-Martinez, 2021). As previously mentioned, Mr. Johnson has difficulty ambulating and shows signs of chorea, making it difficult for fine-motor movements as well as gripping and holding. As a result, his ADL’s are highly impacted, including his job as a landscaper. Assistive robotics can provide support when performing these daily activities that might otherwise be too difficult. This may help him with tasks such as cooking, cleaning, dressing etc (Uriel-Martinez, 2021). These robotics can be specifically designed for the needs of a certain individual, which is often a challenging component of this form of assistive technology. Specifically, robotic arms and grippers might be helpful in Mr. Johnson’s case. Another specific example of an assistive device that would be beneficial in Mr.Johnson’s case would be an exoskeleton. These devices have been shown to improve mobility and independence in those with neurodegenerative disorders, and may mitigate the negative health effects of a sedentary lifestyle. Various other uses of an exoskeleton include, encouraging physical activity, early rehabilitation, and supporting daily living tasks in home and community settings (Rodríguez-Fernández et al., 2021). For this reason, as the disease progresses into the more severe and later stages, we believe that Barry would greatly benefit from the use of an exoskeleton.  

A variety of challenges may arise when incorporating this technology-mediated tool in clinical practice. As one would assume there may be some difficulties implementing an assistive robotic device in practice. First, it is important to consider the issue of cost and healthcare workload when dealing with these devices (Hung, 2019). These technologies may be expensive, which may limit access to these devices in a clinical setting. Several studies have highlighted that the maintenance, cleaning and repair of exoskeletons can lead to additional costs. It is also important to consider time consumption and the training aspect of these assistive devices. The knowledge and proficiency of healthcare staff in utilizing and facilitating the use of the exoskeleton can be critical, adding to the workload and staff, ultimately increasing healthcare costs (Hung, 2019). Some ways to mitigate this challenge could be to research funding opportunities. Options such as research grant programs, government agencies, and private foundations may help with the barrier of cost. Insurance coverage, non-profit organizations, buying used devices, are all options to mitigate this barrier to assistive robotic devices. To mitigate healthcare workload, it is vital to develop clear and concise training materials to avoid unnecessary time wasted. Efficient and effective training to patients and healthcare staff is extremely important. Another potential method would be the training of a core group of specialists who can provide ongoing training to help reduce time and resources required to train users.

Another challenge with the implementation of assistive technology and robotics is the device adaptability to the user. Adaptivity refers to the ability of devices to adjust to variations in their surroundings, such as user behavior, circumstances, personal choices, or external factors. These devices require contextual information alongside a model of the user to ensure the correct adaption process. This is often viewed as a machine learning problem (Uriel-Martinez, 2021). Therefore, it might be difficult for wearable assistive robots to deal with the level of changes that might be expected in outdoor environments and may not accurately capture the complexities or diversity of many use cases. There are ways to mitigate these problems; namely hybrid solutions. Hybrid solutions utilize initial knowledge to form templates or detect initial activities, while any recently detected activities are saved for subsequent labeling, which may involve the user's active involvement (Uriel-Martinez, 2021). Although there are various barriers with the incorporation of assistive robotic devices in practice, it is possible to mitigate these barriers if the problem is approached correctly.

Martinez-Hernandez, U., Metcalfe, B., Assaf, T., Jabban, L., Male, J., & Zhang, D. (2021). Wearable assistive robotics: A perspective on current challenges and future trends. Sensors, 21(20), 6751.

Brose, S. W., Weber, D. J., Salatin, B. A., Grindle, G. G., Wang, H., Vazquez, J. J., & Cooper, R. A. (2010). The role of assistive robotics in the lives of persons with disability. American Journal of Physical Medicine & Rehabilitation, 89(6), 509-521.

Hung, L., Liu, C., Woldum, E., Au-Yeung, A., Berndt, A., Wallsworth, C., ... & Chaudhury, H. (2019). The benefits of and barriers to using a social robot PARO in care settings: a scoping review. BMC geriatrics, 19, 1-10.

Rodríguez-Fernández, A., Lobo-Prat, J., & Font-Llagunes, J. M. (2021). Systematic review on wearable lower-limb exoskeletons for gait training in neuromuscular impairments. Journal of neuroengineering and rehabilitation, 18(1), 1-21.

Interdisciplinary Care Team: Management and Referrals

Clinical Psychologist

It is recommended that Mr. Johnson is referred to a clinical psychologist, as he is exhibiting symptoms that strongly align with the expertise of this healthcare profession. Mr. Johnson has been experiencing depression, irritability, and agitation since the onset of his diagnosis of HD, as well as increased marital issues and forgetfulness. These issues fall objectively within the scope of practice of clinical psychologists, and their expertise would be valuable in helping Mr. Johnson manage his symptoms and improve his overall quality of life. A clinical psychologist may provide many services to Barry, including psychological assessments, psychotherapy, and cognitive-behavioral interventions. They can also provide support and guidance to Mr. Johnson’s family members and caregivers, who may be struggling with the challenges of the disease.

Referral to clinical psychologist:

I strongly recommend that Mr. Johnson attend your services due to his symptoms of depression, irritability, agitation, forgetfulness, and marital issues. It should be noted that Mr. Johnson was prescribed 25 mg of Valium (Diazepam) per day following the onset of HD and increase in depressive symptoms as well as some initiation of chorea and dystonia. Reassessment of Mr. Johnson’s diagnosis of depression and other surrounding medical issues are indicated. It is also asked that you consider Mr. Johnson’s family members and caregivers, who may also be struggling with the challenge of the disease. It is my recommendation that Mr. Johnson is referred to a clinical psychologist who has experience working with individuals with HD, and can help coordinate care between the various healthcare providers involved in his treatment.      

Occupational Therapist

It is recommended that Mr. Johnson is referred to an occupational therapist. It is noted that Mr. Johnson often feels cloudy in thought, sometimes even forgetful when caring for responsibilities. These signs are indicative of cognitive testing, which can be performed by an occupational therapist. An occupational therapist can also work with Mr. Johnson to develop strategies and adaptations that will allow him to continue to participate in daily activities despite his HD symptoms. The therapist can provide access to homecare services, potentially visiting Mr. Johnson’s home to assess his accessibility. They can provide services and ensure that this is a comfortable environment for him.  They can also provide training and education to Mr. Johnson’s family members and caregivers on how to best support him in his daily activities. By addressing these aspects of Mr. Johnson’s condition, he can hopefully improve his overall quality of life.  

Speech Language Pathologist

It is recommended that Mr. Johnson is referred to a Speech- Language Pathologist (SLP). Mr. Johnson’s reported cognitive symptoms such as feeling cloudy in thought and forgetfulness may indicate possible language and communication difficulties. Moreover, persons with HD may have affected speech, language, and communication abilities. This neurodegenerative disorder will, at some point, change an individual’s ability to speak clearly, understand language, and communicate effectively. An SLP can conduct a comprehensive evaluation of Mr. Johnson’s language, communication, and cognitive abilities to determine if there are any underlying deficits that may be impacting his ability to communicate effectively. Additionally, an SLP can provide therapy to address any identified deficits and help Mr. Johnson improve his overall communication and cognitive function.

Rosenblatt, A., Ranen, N. G., Nance, M. A., & Paulsen, J. S. (1999). A Physician’s Guide to the Management of Huntington’s Disease. Huntington’s Disease Society of America, New York.

Veenhuizen, R. B., Kootstra, B., Vink, W., Posthumus, J., Van Bekkum, P., Zijlstra, M., & Dokter, J. (2011). Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation. Orphanet journal of rare diseases, 6, 1-6.

Vota, S., & Byrne, M. (2017). Social work implementation into an outpatient neurology clinic: utilization and patient outcomes (P3. 037).

Quinn, L., & Busse, M. (2012). Physiotherapy clinical guidelines for Huntington’s disease. Neurodegenerative Disease Management, 2(1), 21-31.

Discussion

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