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What is Osteogenesis imperfecta?
"brittle bone" disease. it is a rare congenital disorder of collagen synthesis. Autosomal dominant inheritance (one abnormal gene). 25% are spontaneous mutations. Affected people have a 50% change of passing the disorder on. More than 150 mutations have been identified with OI. Often mistaken as abused children.
Incidence of OI?
Estimated 30,000 to 50,000 people in the US. Depending on the source. 1 in 20,000 or 1 in 10,000. Affects all races and ethnic groups. Equal gender.
Diagnosis of OI?
- By observation of clinical manifestations
- Skin biopsy
- Bone scans (DEXA)
- X-rays (including the skull)
Describe type one OI
Most common and mildest form, collagen production is 50% reduced, remaining production is normal. Mild to moderate fragility without bone deformity. Most fracture occur before puberty. Associated with blue sclerae, triangular face, hearing lass (beginning in 20-30s), easy bruising.
Describe type two OI
MOST severe and typically perinatal lethal. Death in infancy or early childhood. Extremely fragile connective tissue. Multiple in utero fractures. Intrauterine growth retardation. Severe bone deformity. Soft and large cranium. bones crumple and bow.
Describe type three OI
Moderately severe. progressive deformity, scoliosis, triangular face, large skull, severe osteoporosis, severe fragility of bone (in utero fratures), blue, purple or grey sclerae, extremely short in stature, usually wheelchair bound by teen years.
Describe type four OI
Variable, usually mild - nearly normal lifespan. Mild to moderate fragility. Mild to moderate osteoporosis. Bowing of long bones, barrel-shaped rib cage. Bones fracture easily before puberty, light or normal sclerae, short stature, joint hyper mobility.
Medical manifestations of OI?
- Cardiovascular complication
- Orthopedic (scoliosis, kyphosis)
- metabolic defects
there is no cure for OI at this time.
Orthopedic Medical management of OI?
Treat fractures - Casting and surgery (internal fixation with intramedullary rods)
Pharmaceutical Medical management of OI?
- biosphosphonates - reduce normal bone turnover (pamidronate and alendronate)
- vitamin D - helps obsorb calcium
- calcium supplements
- ALONG WITH WBV and bone marrow transplants
General clinical features of OI?
- shortened stature secondary to abnormal epiphyseal plates, deformitiy after fracture, steoporosis, vertebral collapse.
- thin skin
- jt hypermobility
- pectus deformity
- deformed teeth
- muscle atrophy
- gross motor delays
ROM PT management of OI patients?
PROM and rotational forces are contraindicated, in most cases. use PROM when the child is older, in straight planes only, and using gental myofacial release techniques.
ROM: encourage the child to use full ROM without force.
Handling PT management of OI patients?
educate parents on proper handling techniques, lift buttocks with diaper changes, don't lift child under arms or hands.
positioning PT management of OI patients?
neutral alignment of head, trunk and LE. In severe cases prone is avoided.
strengthening PT management of OI patients?
- Avoid placing weights near the jt lines
- avoid long lever arms
- emphasize hip extension, hip abduction, trunk extension and abdominal
standing PT management of OI patients?
Is important and should be implemented around 10-14 months of age.
DMEs for OI?
bath chair, stander, manual/power wheelchair, consult with OT regarding personal hygiene and adl devices, hoyer lifts.
- bathroom: automated censored faucets, toilets and soap dispensers. Shower head. short toilet/lower sinks
- lower light swtiched
- lever door handles
- widen doorways
Prognosis of patients with type I OI?
most ambulate either community or household and 50% without a device.
Prognosis of patients with type III OI?
About 50% require power mobility, 27% are household ambulators
Prognosis of patients with type IV OI?
ABout 26% are community ambulators, 57% are household ambulators
What is the best predictor of ambulation status in patients with OI?
the type and ability to independently sit at 9-10 months of age