Week 4.5 Osteogenesis Imperfecta

Question 1

what is OI

Answer 1

an inherited disorder of the connective tissue

Question 2

what are common impairments and characteristics of OI

Answer 2

• diffuse osteoporosis and recurrent fractures,
• weak muscles
• lax joints
• blue sclera
• dentinogenesis imperfecta
• deafness
• excessive sweating

Question 3

how many types of OI are there

Answer 3

at least 11

Question 4

types 1-4 are mostly autosomal…
defect in?
bone fragility?

Answer 4

• autosomal dominant,
• have a defect in the Type I collagen structure,
• leads to mild to sever bone fragility

Question 5

types 5-11 are autosomal…
defect in?
bone fragility?

Answer 5

• autosomal recessive
• no type I defect, but inability to translate collagen to bone
• moderate to severe bone fragility

Question 6

difference between type 1 and 2

Answer 6

1 can ambulate with out an AD, 2 is usually stillborn

Question 7

before you evaluate a patient with OI…

Answer 7

• talk to the medical team
• know what type
• know the prognosis
• know how treatment and interventions are effected
• patient and family education

Question 8

what are some pieces of medical management for OI

Answer 8

• genetic counseling
• biphosphonate class of drugs (inhibits osteoclasts and reduces bone turnover)
• adequate vitamin D (to help uptake Ca)
• casting vs. intramedullary rod fixation for fractures
• immobilize vs mobility with the risk of osteoporosis and fracture

Question 9

what are some PT considerations for OI (5)

Answer 9

• family education (positioning, handling, bathing, diapering, carrying)
• avoid traction (puling on the kids arms) and dangling.
• consider modifications to enviro (car seat, bath tub)
• weight bear with caution (because we don’t want to fracture bone)

Question 10

other PT considerations

Answer 10

• balance the strengthening with protection
• focus on skills and ADLs
• promote social interaction
• mobility aids as needed
• energy conservation
• adaptive PE