Osteogenesis Imperfecta CAT Flashcards
What is osteogenesis imperfecta (OI)?
- Rare congenital disorder of collagen synthesis
- Affects all connective tissue in the body
- Reduces production of collagen 20-50%
Etiology of OI
- Autosomal dominant or autosomal recessive trait
- 25% of OI is from spontaneous mutation of the genes
Types of OI
- Type 1
- Type 2
- Type 3
- Type 4
Type I OI
- child has near normal growth
- Frequency of fractures usually ceasing after puberty
- Mild/mod fragility, most times w/o deformity
Clinical presentation w/ type I OI
- Blue sclera
- Easy bruising
- Triangular face
- Possible hearing loss
Type II OI
-Most severe form
- Child dies in utero or by early childhood
- Significant fragility of connective tissue
- Experiences multiple fractures
- extreme deformity
- Soft skull
Type III OI
- Significant growth retardation
- Progressive deformities
- Ongoing fractures
- Severe osteoporosis
- Triangular face
- Blue sclera
- Significant limitations w/ functional mobility
Type IV OI
- Mild/mod fragility (greater than type I)
- Osteoporosis
- Bowing of long bones
- Barrel shape of rib cage
- Possible hearing loss, brittle teeth
- Near normal sclera
- Near normal life expectancy
Imaging/labs for OI
- Skin biopsy to examin collagen
- X-rays and bone scans to examine deformities and old fractures
- Bone densitometry for bone mass
Additional findings w/ OI
- Delayed developmental milestones b/c of immobilizations, hypermobility/laxity, and poorly developed muscles
What might ambulation look like for type I OI?
Most will become community ambulators
What might ambulation look like for type IV OI?
- About half are household ambulators
- 1/4 are community ambulators
What might ambulation look like for type III OI?
1/4 become household ambulators
Medical management for OI
- The goal is to control symptoms
- Optimize independence w/ mobility, bone mass, strength
- Prevent fractures and deformities
Pharmacological management for OI
- Bisphosphonate druge to increase bone density
- DO NOT GIVE STEROIDS, can compromise connective tissue
PT focus for newborns
Parent handling, recognition of fractures, positioning, and activities that facilitate safe movement
General PT goals for managing OI
Developmental activities, strengthening, positioning, WB, use of mobility aids
What form of exercise is a good alternative for patients w/ OI?
Swimming
