Case 18: Osteogenesis Imperfecta (exam 2 - kaylee) Flashcards
What is Osteogenesis Imperfecta?
An inherited disorder caused by an autosomal dominant gene mutation that affects type I collagen production.
(Type I collagen makes up connective tissue in bones, ligaments, tendons, skin, dentin, cornea, and lungs)
What are some characteristics of OI?
- fragile bones that fracture easily
- bone deformities
- joint laxity
- weak muscles
- hearing loss
- easy bruising
- excessive sweating
- short stature
- scoliosis
- fatigue
Is cognition affected by OI?
NO
OI Type I
produces normal collagen but have a deficiency in the amount that is produced
OI Type II, III, IV
these types have altered collagen formation that creates a deficient bone matrix
what causes fragile bones susceptible to fractures in OI?
low bone mineral density (BMD)
does OI affect the rate of bone healing?
NO
Which type of OI is typically fatal in the neonatal period?
Type II
What is the standard treatment of long bone deformity?
- placement of rod through intramedullary cavity of bone
- rod stabilizes and aligns bone allowing weightbearing and reduces fracture reoccurence
What class of drugs are used to treat OI because they inactivate osteoclasts and decrease bone absorption?
Bisphosphonates
What are goals of using bisphosphonates?
- used to increase BMD
- dec pain
- dec fracture incidence (not supported by research that it decreases fx incidence)
- reduce bone deformity
- improve growth
- mobility
What is used to measure bone mineral density?
DEXA (gold standard)
precautions to take during physical therapy
- no passive twisting, rotating or forceful ROM in extremities or trunk d/t high fx risk
- pain, weakness, fatigue
- close guarding during weightbearing activities (risk of fall/injury)
- monitor skin if using AFOS
complications interfering with physical therapy
- pain may limit activity tolerance
- anxiety regarding potential fractures
- UE deformities may increase difficulty in using walker
The most appropriate progression from ambulating with a walker to ambulating without an assistive device for the child with OI would be:
A. transitioning child to axillary crutches
B. having the child practice taking a few steps at a time with light hand-held assist in a controlled environment
C. ensuring that the child can first walk community distances with the walker
D. check that the child has at least 4/5 quadriceps strength as tested with MMT
B. having the child practice taking a few steps at a time with light hand-held assist in a controlled environment
- axillary crutches and MMT should both be avoided for patients with OI
A physical therapist is creating a HEP for a child with OI who has just begun weightbearing on land following a rodding revision surgery. Which is NOT appropriate
A. sit-to-stand transfers from an elevated surface, using a walker for support
B. standing quad sets using a walker for support
C. short arc quads
D. single leg squats holding a walker for support
D. single leg squats holding a walker for support
When would it be appropriate to utilize a partial-weightbearing gait therapy device as a therapy intervention for a child with OI who has recently begun weightbearing after a rodding surgery?
A. As an alternative to weightbearing in the pool since a partial weightbearing gait therapy device can also provide unweighting of the LEs
B. While ambulating on land instead of using a walker
C. A child with OI should never be placed in a partial- weightbearing gait therapy device
D. To increase standing tolerance prior to ambulating on land
C. A child with OI should never be placed in a partial- weightbearing gait therapy device
- the harness used must be pulled snug to the torso and could cause a fracture to the child’s ribs or pelvis
What type of orthoses might be used for a child with OI?
Clamshell AFO
- worn on lower leg and foot that provides circumferential support with anterior and posterior shell components
What pain rating scale should be used with children with OI?
Wong-Baker Faces Pain Rating Scale
Progression for weightbearing
- weightbearing in pool
- shallow water in pool
- weight bearing on land in parallel bars or using walker
- walker should be used for min of 6 weeks
