Read Full Text: Ataxia telangiectasia: A review (Free to access)
Journal: Orphanet Journal of Rare Diseases
Year Published: 2016
Ranked 9th on our 2015-2020 list of the 100 most influential OT-related articles
I was reaching the end of this week’s (relatively massive) article, when my eyes suddenly flooded with tears.
That’s because I encountered something we had not yet seen in the OT Potential Club: strength-based recommendations.
In the article, the Johns Hopkins-based authors eloquently and thoroughly reviewed what we know (and don’t know) about ataxia telangiectasia. And, they did so in a way that kept their actual patients (including their challenges and strengths) at the forefront of our minds as readers.
Here’s to more scholarly writing like this article.
What is ataxia telangiectasia?
Ataxia telangiectasia (A-T) is a rare, inherited disorder. It is characterized by impaired coordination (ataxia) and telangiectasia (the widening of tiny blood vessels), along with a constellation of additional symptoms.
Progressive difficulty with coordination is typically identified in this population before age 5.
Life expectancy for those with A-T is approximately 25 years of age.
It is estimated that occurs in as many as 1 in 40,000. This would mean that, statistically, my home state of Nebraska might see as many as 48 people with this condition.
What causes ataxia telangiectasia?
A gene mutation leads to the body having difficulty making a protein called “ATM.” This protein helps recognize and repair damaged DNA. Without ATM, the body’s cells become more unstable. This is the general gist of its cause—but the full mechanism of how ataxia telangiectasia manifests is not fully known.
What we do know is since the dysfunction occurs at a cellular level, systems throughout the body can be impacted. However, the cerebellar region is especially impacted.
What clinical manifestations should we help manage/watch for?
Neurological impairments typically appear during the toddler stage, and continue to progress until the child is about 15 years old, at which point, they tend to plateau.
But, even as the overt neurological symptoms start to level off, other symptoms can worsen. Specifically, an impaired immune system and increased risk of cancer can ultimately contribute to the shortened life expectancy in patients with A-T.
Here are other common signs and symptoms that may impact your therapy:
Neurological impairments*:
- Chorea
- Athetosis
- Dystonia
- Myoclonic jerks
- Tremors
- Bradykinesia
*These neurological deficits often lead children with A-T to require wheelchairs during the second decade of life.
Visual impairments:
- Oculomotor apraxia
- Nystagmus
- Hypometric saccades
- Strabismus
- VOR abnormalities
Potential difficulties with feeding/swallowing:
- Dysphagia
- Aspiration
- Involuntary movements impacting self-feeding
Cognition**
- Intellectual functioning
- Nonverbal memory
- Verbal abstract reasoning and calculation
- Executive function
- Perceptual timing
** Certain cognitive deficits appear relatively early in patients with A-T; they can become more profound over time.
Orthopedic manifestations
- Acquired deformity of the feet
What does the article recommend for management of ataxia telangiectasia?
There is no cure for A-T. Recommended management is supportive and should address the patients’ specific symptoms.
Because the symptomatology is so diverse, many practitioners can be involved in the care of patients with A-T.
Occupational therapy is mentioned as a treatment option for neurological considerations. Here are the recommendations that seemed especially related to OT (and the entire rehab team):
- PT, OT, and SLP may help patients with A-T maintain function
- Exercise may also help maintain function, but should not be used to the point of fatigue
- Primary goals for feeding and swallowing are safe, adequate, and enjoyable mealtimes
- A chest physiotherapy vest (and chest physiotherapy, in general) can help clear the airway to prevent infections
- Early treatment of foot deformities may slow their progression
Recommendations for the school day (many of them are strengths-based)
The article states that while school presents a challenge for these children because of their neurologic impairments, most kids with A-T are very socially aware and and socially skilled. For this reason, they typically benefit from sustained peer relationships developed at school.
Specific recommendations/strengths relevant to OT include:
- Children with A-T tend to be excellent problem solvers. Their involvement in how to best perform tasks should be encouraged.
- Visual impairments can make reading difficult. However, most kids with A-T fully understand the meaning and nuances of text that is read to them. Hearing is often normal throughout life, so books on tape may be useful.
- Early use of word completion software should be encouraged.
- Allow rest time, shortened days, reduced class schedule, reduced homework, and modified tests as necessary. However, kids with A-T—like all children—need to have goals so they can experience the satisfaction of making progress.
- Expressive language has been noted as a strength in A-T, even in the later stages of the disease.
- For everyone, long-term peer relationships can be one of the most rewarding parts of life; for those with A-T, establishing these connections in school years can be helpful.
Takeaways for OT practitioners
(These are my personal takeaways, and were not mentioned in the article.)
There are SO MANY disease-specific resources out there—and we need to be using them.
As I’ve been reading the research this year, I’m truly stunned by how disease-specific resources and recommendations continue to improve, year after year.
This is our second week in a row of looking at an in-depth review of a rare disease.
While I believe that our focus on function will continue to be our bread and butter, we OT professionals cannot afford to ignore disease-specific recommendations and considerations.
Exercise. Exercise. Exercise.
I won’t spend much time on this because it feels like it comes up every week. But, as we help our clients form healthy routines and habits, exercise should probably be a consideration—especially if you are working with a patient with a chronic condition.
A little strengths-based language goes a long way.
This article was very detailed about the common impairments caused by A-T. The technical information about the disease far outweighed the amount of information about the strengths of individuals with A-T. But, just a few sentences about these folks’ strengths made a huge difference in how I received the information from this article.
This was a great reminder that we should be including information on our patients’ strengths. This is not just so we can paint a more holistic picture for the readers of our documentation (which is important!), but also to help shape our own mindsets to not be so impairment-focused.
Listen to my takeaways in podcast form:
Find other platforms for listening to the OT Potential Podcast here.
## (Possibly) Earn CEUs/PDUs for reading this articleMany of you can receive continuing education credits for reading this article. Here’s a form to help you do it, along with information to help you understand who qualifies.
And, here’s the full APA citation you many need:
Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M.A. et al. Ataxia telangiectasia: a review. Orphanet J Rare Dis 11, 159 (2016). Ataxia telangiectasia: a review | Orphanet Journal of Rare Diseases | Full Text
