Read Full Text: Intravenous Bisphosphonate Therapy of Young Children with Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years (Free to access!)
Journal: Journal of Bone and Mineral Research (2018 Impact Factor is 5.7)
Year Published: 2015
Ranked 24th on our 2014-2019 list of the 50 most influential articles
Article overview for OTs
This study looks at bisphosphonate therapy as a mainstay treatment of osteogenesis imperfecta (OI). However, as we see with almost all complex diagnoses, multidisciplinary care is indicated—which is why we find mention of occupational therapy and our role in treatment.
The article provides a good big-picture overview of OI and treatment, and it also helps paint a picture of why occupational therapy is so beneficial at this point for these children. After all, pharmacological treatments for OI have definitely progressed, but there is still much room for improvement.
In this article, children with OI who received bisphosphonate therapy demonstrated overall improvements in bone density and vertebral reshaping. However, the rate of long-bone fractures remained high (the prevention of which is one of the primary goals of treatment)— and the majority of patients still developed scoliosis.
Important review of our current understanding of osteogenesis imperfecta (OI)
OI is a heritable disorder which is typically caused by a genetic mutation that impacts type-1 collagen production. This type of collagen is the most abundant protein in bone, skin, and other connective tissues that provide structure and strength to the body.
So, while OI is also known as “brittle bone disease,” it is important to remember that multiple systems, notably connective tissues, are often affected.
The severity of OI varies widely. Here are the types listed by the article, though I believe there are up to eight forms.
- OI Type 1: Represents the least-severe end of the spectrum
- OI Type 2: Represents the most-severe end of the spectrum, and children do not survive infancy
- OI Type 3: Represents the most severe type of OI in survivors
- OI Type 4: Represents intermediate severity between Type 3 and 1
Bisphosphonates work by slowing the activity of the cells that break down bone (osteoclasts). This allows the cells that build bone (osteoblasts) more time to work and reduce the imbalance.
More details about the study
The study population was composed of young patients who visited The Shriners Hospital in Canada.
37 children were identified who met the following criteria:
- Intravenous bisphosphonate treatment was started before age five
- Age was 14 years or older at time of last follow-up
- Bisphosphonates had been given for at least six years
- Absence of treatment with oral bisphosphonates
Measures from a chart review were compared with 37 children who matched for age, gender, and OI type—but who had not received bisphosphonate prior to the assessment.
The children who received bisphosphonate therapy did show significantly better bone density scores, on average. They were also, on average, 10 cm taller than those who had not received treatment.
However, these children still sustained an average of six femur fractures and five tibia fractures during the time they were tracked by the study. (This rate of fractures is still considered high.)
Other fractures were not tracked, and this is because such fractures aren’t usually documented with the same precision as long bones of the lower extremity (LE). It’s also important to note that these numbers were not compared to pre-treatment fracture rates. Nor, from what I can tell, were they compared with the control cohort.
Children who had bisphosphonate treatment sustained fewer vertebral compression fractures than those who did not receive the treatment. In fact, at baseline for the treatment group, 35% of vertebra were affected by compression fractures—and this dropped to 6% at the final evaluation.
Unfortunately, even though the vertebral bones had more integrity, the rate of scoliosis was still high, indicating that the scoliosis associated with OI might be influenced by soft-tissue abnormalities.
How OT was involved
A multidisciplinary approach was utilized for the patients. So, in addition to the infusions, many of them also received surgical interventions (such as spinal fusions and rodding surgery).
All patients followed underwent physiotherapy and occupational therapy evaluation and intervention. The article states that this treatment included:
- Exercises
- Provision of special devices for ambulation, mobility, positioning, and ADLs.
The article states that the level of ambulation was determined by a physiotherapist or occupational therapist utilizing the Bleck Scale. (I had difficulty finding info on this assessment!)
Takeaways for OT
(These are my personal takeaways, and were not mentioned in the article.)
These patients should be on our caseload.
In the absence of a cure or treatment that prevents fractures, patients with OI should be on your caseload—especially if they have never seen an OT before.
The fact that all of the children at Shriners received occupational therapy is important, as Shriners is one of the premier hospital systems for children.
As UpToDate says, occupational therapists can address the impairments in activities of daily living (ADLs) secondary to upper or lower limb deformity. We can also help brainstorm and plan for safe participation in meaningful activities. Safe exercise is especially important for these patients.
Multidisciplinary care works best.
We’ve said this plenty of times in the Club, but it bears repeating: a team approach is necessary for complex cases.
OTs should continually be honing their skills as team players, which is part of the goal of this Club. We want to always be looking at cases from different perspectives.
Change is hard, but it is needed.
Bisphosphonates are the mainstay of treatment for OI and, from what I can tell, the evidence for their ability to prevent a certain percentage of fractures might have already improved, even since this study was published in 2015.
That being said, there continues to be room for much-needed improvements in OI treatments.
In my opinion, as we consider changes that are coming to our healthcare systems, we can get wrapped up in worrying about things like reimbursements and changes to our daily routine.
However, we also need to look toward the future with optimism, and think of the positive changes that the future might hold for patients like these. And we can remain hopeful that, among the many medical advancements we will see in the next few decades, there will likely be improved treatments for OI.
And in the meantime, let’s continue to work to provide the best care possible.
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