Our Disease. Our Symptoms.

New research points toward the need for multi-dimensional clinical assessment practices of ataxia.

May 1, 2024

Clinical assessment of finger touching

The day before my first solo wheelchair air travel trip I had a chance to have my semi-annual check up with my neurologist. This was also the first time I showed up to the movement disorder clinic at the hospital where he practices in my wheelchair. If you want to make an impression with your doctor about your progression, just show up using a different mobility device.

As we both engaged in the clinical reassessment of my condition I noticed that different medical practitioners conduct the assessment activities differently. This got me thinking about how accurate are these assessments. Being a social scientist myself I have concluded that while the protocols for the different assessment tools for ataxia were developed from statistical observational data, the actual assessment of patients in the clinic is very subjective and narrowly focused. This could easily lead the examining physician to focus on one symptomatic area, such as balance and coordination, and place less weight or value on ocular issues for example.

My blood pressure was always taken in three positions when it was thought I had MSA-C: lying down, sitting up, standing up. Sometimes there was a minute between these readings and sometimes, no time. And it is always taken when I arrive in the examination room. For MSA, the blood pressure typically shows a drop of 10 to 20 points from position to position for 75% of patients. Mine goes the other way and was the most compelling reason to change my diagnosis. That along with the fact that I wasn’t degenerating rapidly. However, I have noticed that when I move from being on all fours to a standing position, my head swirls. Is this a blood pressure thing or a vestibular thing? That movement I just described was never a part of the clinically determined protocol, but it is a recurring lifestyle movement that I make weekly and the outcome of that movement affects my safety and lived experience.

Researchers Potashman, Mize, Beiner, Pierce, Coric, and Schmahman (2022) were curious about the relationship between the clinical assessments cerebellar ataxia patients receive and patient-reported symptom assessment and outcomes. Their study included a significant number of subjects including 147 patients, 80 family/caregivers, and 17 focus group members. For rare disease social science research, this is a substantial number making this study’s finding worthy of notice by medical practitioners and patients.

Primary clinically designated components

The initial finding from this study provided the affirmation of the primary components clinically designated and described in the various ataxia assessment protocols and the lived experiences of people. What people described as occurring to themselves could be categorized into the clinical assessment categories, but also provided a richness of qualitative descriptions of those categories and assessments. For example, as Ataxians progressed in the degenerative nature of their balance, people described it as having greater difficulty standing and giving a person a hug. The clinician assessment might simply have been the assessment of how long can the patient stand, which is rather abstract to the patient.

A profound finding, and one that impacts medical professionals, is that patient symptoms when mapped to multiple assessment concepts provided clinicians with greater insight into treatment. For example, patients reported having difficulty with driving. Through multiple-concept mapping, researchers were able to identify that this lifestyle symptom could be associated with ocular-motor impairment (Hakim’s Razor approach would lead to this assumption). However, patients also reported the issue to be related to upper limb function (steering and managing dash controls), lower limb functioning (pedal coordination and strength), or balance (getting in and out of the car or loading the car).

Similarly, when a patient reports ataxia is impacting their housekeeping or home repairs, the related concepts may include tremors, movement control, and coordination, walking and gait issues, or oculi-motor issues. In a conversation with their doctor, the patient may report that they are exhausted from simple housekeeping chores and found that carrying a bucket of water was no longer easy without a lot of spilling.

Through the conversation, the doctor might determine that the only clinical assessment category affected is gait and walking. However, with more probing, they may also find that bending to pick up the bucket causes the patient to go off balance and fall into walls or objects. With this information, the medical practitioner is in a better position to discuss lifestyle adaptations, which would be more meaningful than stating the obvious — ‘your balance is deteriorating and we can’t do anything about that.’

These findings have the potential to enrich patient-clinician conversations focusing on developing meaningful and personalized treatment goals. Given that there are so few medical-based treatments (drugs, surgery, etc.) that can be done for ataxia, proactive support interventions and lifestyle adaptations are the core treatments.

Potashman et.al offered a strong suggestion to medical practitioners arising from their research. They caution their colleagues of the “inadvisability of singling out any one COA (Clinical Outcome Assessment) item to represent to totality of the patient experience” (p. 1).

Finally, through their extensive interviewing process of data gathering, Potashman et.al were able to create a “hypothetical disease continuum for cerebellar ataxia.” Establishing a natural history for ataxia is extremely difficult due to the high number of variations of the disease. However, using three common characteristics of ataxia as a starting point and the stories of their patient subjects, they framed a progression-based continuum we Ataxians can relate to (see below).

Hypothetical Ataxia Disease Continuum - adapted from Potashman et.al (Cerebellum: 2022)

Keeping in mind their advice to clinicians regarding the development of meaningful and personalized treatment goals, I have posited positions along the continuum as natural opportunities to intervene with lifestyle-supportive measures (Top Row). I believe that it is far better to be proactive and reduce risk rather than being reactive as a response to a risk gone bad. As a patient-practitioner team, our goal should be zero falls rather than the counting and reporting of falls.

At every consult, my doctor asks me, “Have I fallen and how many times.” I was waiting for this question this visit and told him that I have a new criteria protocol for fall assessment because a ‘yes-no’ and number tells us very little except that I have fallen. Instead, I told him my new metric criteria: Tipple, Topple, Tumble. This describes my daily quality of life and we can determine the level of mobility intervention I would need. (See Table.)

My experientially based fall assessment criteria. (Please credit appropriately.)

Looking back on my visit with my doctor, I think I should have spoken up more about discussing my wheelchair needs and use as well as my increased reliance on the handrails in my shower. I suspect that may have been more telling about my progression than me attempting eight tandem steps in a line. Advocacy is up to us. Living with ataxia as an Ataxian means living into it, too.

Reference: Potashman, M. H., Mize, M. L., Beiner, M. W., Pierce, S., Coric, V., & Schmahmann, J. D. (2023). Ataxia Rating Scales Reflect Patient Experience: an Examination of the Relationship Between Clinician Assessments of Cerebellar Ataxia and Patient-Reported Outcomes. Cerebellum (London, England), 22(6), 1257–1273. https://doi.org/10.1007/s12311-022-01494-1