Osteogenesis Imperfecta

What is osteogenesis imperfecta?

an inherited disorder impacting the connective tissue resulting in fragile bones

What are primary characteristics s/s of OI?

joint laxity, muscle weakness, osteoporosis (high risk of fractures), bowing of long bones, increased risk of scoliosis and kyphosis

What are the two types of OI?

Congenita and tarda type

Which is the more severe type of OI with a poorer prognosis?

congenita

How is OI diagnosed?

genetic testing, DEXA scan (BMD)

What are examples of medical management for OI?

bisphosphonates, vitamin D, bone marrow transplants, whole body vibration

How do bisphosphonates work?

improve bone density by decreasing osteoclast activity

How does vitamin D work?

increase calcium absorption

How do bone marrow transplants help manage OI?

produce more osteoblasts

How should ROM be assessed in this pt population?

passive stretching is contraindicated** AROM and observation of functional movement ONLY

What is proper facilitation for pull to sit?

support child by shoulders, with active movement into flexion

What is proper facilitation for trunk control on therapy ball?

position hands on pelvis and trunk

What is proper facilitation for active movement?

allow for active, spontaneous movement in SL, supine and supported sitting with the child actively reaching for toys

Which is more at risk of fractures in preschool aged children with OI UE or LE?

LE

Is it okay to implement resistance/ strength training in OI?

YES, progressive overload to build muscle and bone strength, prevent fractures, and promote independence