Living and Coping with Spinocerebellar Ataxia: Palliative Care Approach

Abstract

The discussion about the palliative care approach in spinocerebellar ataxia (SCA) has become extremely relevant. Mainly after considering that most progressive ataxias are incurable, there are few published studies on their palliative and end-of-life care. Although many patients with degenerative neurological diseases have a normal life expectancy, some forms of SCA (e.g., type 1, 2, 3, and 17) can progress rapidly, with a shorter life span. This chapter will discuss current guidelines and recommendations that have been drawn from the broader field of progressive neurological conditions. In addition, we also review aspects of strategic end-of-life care management, the involvement of the multidisciplinary team and the contribution of allied health professionals are essential for excellent patient support care in a palliative approach. More studies on your supportive care and end-of-life care to manage this serious illness to improve quality of life and reduce suffering, addressing complex medical symptoms, psychosocial issues, general well-being, and planning strategies for better living and coping are needed.

1. Introduction

“We cannot avoid suffering but we can choose how to cope with it, find meaning in it, and move forward with renewed purpose.” (Viktor E Frank)

“Our most cruel failure in how we treat the sick and the elderly is the failure to recognize that they have priorities beyond just being safe and living longer; that the chance to shape one’s history is essential to sustaining the meaning of life; that we can reshape our institutions, our culture and our conversations in ways that transform the possibilities of the last chapters of everyone’s life.” (Atul Gawande)

Spinocerebellar ataxia (SCA) is a term that refers to a group of inherited autosomal dominant ataxias characterized by degenerative changes in the part of the brain related to movement control (cerebellum) and in the spinal cord, its connections with progressive decline in functional capacity [1, 2, 3].

The significant improvement in the classification and correlation of the clinical profile of the different forms of cerebellar ataxias is due to genetic advances in medical diagnosis. Although several subtypes of SCAs have been identified, phenotypically, cerebellar ataxia is a common feature of each type with individual differences regarding mutations in many different genes and the involvement of the cerebellum and its connections [3, 4, 5, 6, 7, 8, 9, 10].

On the other hand, despite these advances in genetics, modifying therapies targeting specific genes or stem cells, there is no current definitive treatment able to stop the progression of most cases as in most degenerative neurological diseases. Strategic management of SCA to improve quality of life and reduce suffering, addressing complex medical symptoms, psychosocial issues, general well-being, and planning requires a broad and dedicated multidisciplinary involving palliative care approach. For patients with more complex needs help from a palliative care specialist team may be necessary [11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24].

In this chapter, it would be reviewed the main clinical aspects, the perspectives of therapeutic management, directed symptomatic management, support, and multidisciplinary team including the current guidelines regarding patients living and coping with SCA.

2. Recognition and key clinical aspects

Genetically and phenotypically, several subtypes of SCAs have been identified. Cerebellar ataxia is a feature of each type; other distinguishing features may suggest a specific type. However, more than ⅔ of patients with SCA have mutations at known loci that can be identified through genetic testing. In addition, among patients with apparently idiopathic sporadic cerebellar ataxia (no family history), an SCA mutation (types 1, 2, 3, 6, 7, 8, or 12; most often SCA-6) or Friedreich’s ataxia can be identified in approximately ¼ of patients [1, 2, 3, 4, 10, 25].

In most subtypes of SCAs (SCA 1, 2, 3, 6, 7, and 17) a genetic abnormality will be identified related to the expansion of CAG repeats in the region that encodes the polyglutamine tracts in protein products, like what is observed in Huntington’s disease. Wild-type chromosomes with a stable CAG repeat have 6–34 repeat units; more than 36 repeats result in an unstable, expanded, disease-causing allele.

Clinically disorders associated with CAG repeat expansion share several relevant medical condition features [6, 7]:

1. Middle age beginning with progressive ataxia, neuronal dysfunction, and eventual neuronal loss over the next 10–20 years.

2. The greater the number of CAG repeats in expanded alleles, the earlier the age of onset and the more severe the disease.

3. Repeats show somatic and germinal instability. Then, successive generations of affected families experience the anticipation, a phenomenon characterized by earlier onset and a progressively worse phenotype in subsequent generations.

4. Only a certain subset of neurons is vulnerable to dysfunction, although the relevant protein is widely expressed throughout the brain and other tissues.

5. Cerebellar atrophy is the most reported finding. Brainstem atrophy is variable, being more characteristic of SCA types 1, 2, and 7.

6. Neurodegeneration of the tegmental pontine reticular nucleus has been reported in patients with SCA types 1, 2, and 3; this nucleus plays a role in the performance of smooth horizontal searching eye movements and the accuracy of the horizontal saccade.

3. Perspectives of medical palliative care management

The nihilistic view of the treatment of SCA, as it happens for long past years with many other neurodegenerative diseases, is no longer justified. In addition to rehabilitation therapies, there are specific complications to be looked for and treated. These interventions can significantly alleviate the problems of progressive ataxia and prevent potentially fatal complications. An enthusiastic, motivational, and well-informed medical approach in addition to follow-up by a multidisciplinary team can provide valuable support to a patient with SCA. When a patient approaches the end-of-life, specialized palliative care services should be involved to help to meet their specific needs as will be described in this chapter [20, 21, 22, 23, 24, 26, 27, 28, 29, 30, 31, 32, 33].

4. Symptomatic management

A patient living with SCA, the care team services should be involved to help to meet their specific symptomatic needs. A variety of potential symptoms will need to be managed as treatment “strategies” are often derived from other neurological conditions with similar symptoms and work equally well.

The approach to treating spasticity and bladder symptoms, for example, is the same as for people with other neurological diseases [22, 23]. The assessment and management of these complications is best done by involving therapy specialists, and the work of the multidisciplinary team can improve patient care. Speech and language therapy are essential along the patient’s journey, from monitoring the swallowing function in the initial stages and providing useful tips on how to avoid complications, to planning feeding by percutaneous gastrostomy [24].

The impact of cerebellar disease on cognition is not widely known, but it can have a significant impact on morbidity. These “remote” effects of cerebellar dysfunction can include frontal subcortical impairments affecting personality, behavior, and judgment.

Mental health complications (anxiety, depression) can exacerbate people’s sense of isolation nowadays with Covid-19 pandemic and fear of the future. These symptoms often accompany sleep disturbances and fatigue but are barely recognized [26].

Management of cardiac complications is especially important in Friedreich’s ataxia; it can be applied to SCA and patients need regular electrocardiographic checks and echocardiograms to detect the development of cardiomyopathy. Echocardiography may show concentric left ventricular hypertrophy (possibly in more than half of cases, especially early-onset ones).

As the disease progresses, hypertrophy regresses, resulting in a thin, dilated left ventricle. Cardiac enzymes may be asymptomatically elevated (in the absence of arrhythmia or acute coronary syndrome) and may help to have baseline values for future comparison. It is essential to involve an experienced cardiologist with knowledge in the treatment of neuromuscular disorders, initially to advise on medications to treat cardiomyopathy and heart failure, and later to manage arrhythmias and other complications related [27, 28].

5. Multidisciplinary team work

The multidisciplinary team is clearly important in evaluating and managing patients with SCA. Patients with SCA should be offered several times a year’s reviews, ideally by a specialized team including a neurologist, advanced palliative care, nurse, and when it would be necessary, other members as social workers, psychiatrists, therapists, physiatrists.

Speech and linguistic therapy (for both communication and feeding), occupational therapy, and physiotherapy can each make important contributions at different stages of the patient’s life. Patients require regular review to identify any new symptoms that may need treatment, and for patients to take advantage of advances in diagnosis and any newly available treatments [20, 21, 22, 23, 24].

These multidisciplinary interventions can significantly alleviate the problems of progressive ataxia and prevent potentially fatal complications. An enthusiastic and well-informed medical approach in addition to follow-up by a multidisciplinary team can provide valuable support to an SCA’s patient.

In addition, those with no established cause for their ataxia can undergo a thorough and repeated review of the clinical features and investigation results, which sometimes leads to a clearer diagnosis. Patients and their families should be encouraged to contact patient support groups. When a family first receives the diagnosis of progressive ataxia, patients are usually not heard of the condition or come across other people with it. Support from patient organizations can, therefore, be particularly important at this stage. The possibility of meeting others in the same situation, receiving emotional support and information, and the opportunity to learn about research developments can all help [30, 33].

6. Supportive care

Given that most cases of SCA are difficult to manage, can progress rapidly and have a shortened life. Studies on their palliation and end-of-life care are needed. Most of the recommendations in guidelines at present are drawn from the broader field of other progressive neurological conditions. The supportive care comes alongside your current medical and neurology team to give an extra layer of support not only for patients but also for family [29, 30, 31, 32].

Palliative care is for anyone living with a serious illness at any stage and can be offered at any facility wherever the patient is at the hospital, clinic outpatients, and at home [30]. To provide support to physical and psychological symptoms, social issues, community groups, talking about end-of-life worries, other issues (for example, copying distress) and spiritual concerns. Compared to usual care, it provides relief from suffering, works in quality of life, plans for decline, advances care planning, focuses on patient and family, and requires a consistent team approach and strategy. The members of neuro-palliative care are doctors who are going to review the history and physical examination, establishing goals of care, symptoms management and education, about disease and prognosis discussion which is very difficult related to SCA due to lack of key markers then normally is done about the point of care of each individual case.

The nursing team is going to make the medication review, identification of medical durable power of attorney, discussion of advanced care planning at the appropriate time besides for screening caregiver distress. The chaplain is going to address spiritual/existential concerns, exploring social and family issues, identifying, and discussing grief and screening for caregiver distress. The social worker is going to advice on financial and insurance issues. Providing resources for home health care, and logistical aspects of transition care.

7. Planning care and final remarks

As stated in our book and described in several chapters, the symptoms of ACS are much more than ataxia or movement disorders and include variability in cognitive complaints, mood disorders, fatigue, vision problems, problems eating, swallowing, neuropathy, cramps, muscle, heart, intestinal, and urinary problems among many others.

The psychiatrist Viktor Frankl identified three main sources for meaning in care and life [31]:

• At work, doing something significant.

• In love, caring for another person. The salvation of man is through love and in love.

In a position of utter desolation, when a man cannot express himself in positive action, when his only achievement may consist in enduring his sufferings in the right way—an honorable way—in such a position man can, through loving contemplation of the image he carries of his beloved, achieve fulfillment.

Love goes very far beyond the physical person of the beloved. It finds its deepest meaning in his spiritual being, his inner self.

• In courage during difficult times. Suffering itself is meaningless, but our response to it gives it meaning.

Then understating an individual’s value goals of care allows clinical to align the care with what is the most important to the patients with SCA and their families. Mainly addressing the value goals of care, for example, doing exploration about what was life before SCA? and other several important matters, asking questions about the quality of life and hoping to realize what is most important for the patient. Patients with intractable and/or distressing physical symptoms may benefit from referral for a specialist palliative care, which might also help those with complex social, psychological, or spiritual needs and plan of care.

The time for planning end-of-life care is when the clinician answers ‘No’ to the ‘surprise question’—‘Would you be surprised if this patient died in the next 12 months?’—as well there being generic and specific (for ataxia) indicators that the patients have reached the terminal phase of their illness. Management in this phase should be geared toward enabling a ‘good death’: being treated as an individual, with dignity and respect, without pain or other distressing symptoms, in familiar surroundings, and the company of close friends and family.

The plan of care will be a negotiation of goals of care and realistic medical options for management. Besides that, the unique psychosocial stressors such as changing roles in a relationship, loss of autonomy, financial strain, communication difficulties, social isolation (especially during Covid-19 pandemic), cosmetic effects, a social stigma that will require referral to an attorney, psychotherapy, support groups, ataxia specific programming in rehabilitation centers.

The spiritual distress includes grief, guilt, fear of cognitive decline, existential crisis, and death anxiety and needs to be addressed the caregiver distress as well as high levels of burden and depression. Establishing an advance care plan to ensure that patient wishes are known and planning the future associated with improvement of patient satisfaction, lower hospital admission rates, decreases significantly the psychological comorbidities and suffering for the family.

Having a diagnosis of SCA is very important to identify a care team to strategize how to bring back meaning to life, getting extra support at home, and community resources. Also, despite care holistic symptom management, long-term relationship with the care team, and establishing a plan for future advanced care planning [30, 32, 33].

In conclusion, the palliative care approach in patients living and coping with SCA should benefit the patient’s life in many aspects, such as better quality of life, improved symptom burden, better life of patient and family, greater satisfaction with care, higher rates and quality of the advance plan of future and no adverse effects. In addition to that, further studies are needed as clinical priorities included to develop and implement models to integrate palliative care into neurology and to develop and implement informative quality measures to evaluate and compare palliative approaches in SCA through validated trials.

Conflict of interest

The authors declare no conflict of interest or disclosures.