osteogenesis imperfecta

what kind of condition is OI?

autosomal dominant mutation of COL1A1 and COL1A2
can also be inherited as recessive or X-linked disorder

how is OI diagnosed?

reviewing the patient's family and medical history, conducting a physical exam, and ordering x-rays and bone density tests. genetic blood tests can also confirm the diagnosis and identify the specific type of OI by detecting mutations in the relevant genes

what are signs and symptoms?

Bone fragility and osteopenia → fractures
Short stature
Joint hypermobility
Gray or blue scleral hue
Dental abnormalities
Hearing loss
Muscle weakness
Cardiovascular manifestations
Pulmonary complications

what is the mildest form of OI?

type I

what are associated dental issues?

dentinogenesis imperfecta, cause brittle, discolored teeth and malocclusion, with more severe problems in type III OI

what are associated cardiovascular and pulmonary issues?

aortic dilation and valve problems
lung abnormalities and breathing difficulties sleep apnea

how can OI be tested for?

physical exam
x-rays (show weak or deformed bones)
bone density test
genetic testing (COL1A1 and COL1A2)
collagen testing
bone biopsy

what is the goal and focus of PT?

goal: maintain function as long as possible
focus: Strength and aerobic training to allow the children to move against gravity.

what is involved with medical management?

fracture care: casts/splints for fracture bones, help align bones properly for healing
physical therapy
bracing: especially in LE for support, decrease pain, and keep joints aligned
surgical procedures: bone deformity corrections: scoliosis and basilar invagination, rodding, hearing loss
medication

what medication is commonly used for OI? what is it useful for?

Bisphosphonates
useful for slowing bone loss and educe vertebral compression/ long bone fracture

what is a con associated with fracture care?

bones can weaken if held in the same place for an extended period

what are indications for PT?

pt education for safe positioning to minimize fractures and injuries
exercises to increase or maintain muscle performance and mobility/flexibility
gait training to reduce risk of fractures and injuries
post fracture rehabilitation
pre and post operative rehabilitation
recommendations for splinting and bracing to decrease risk of fractures
recommendations for assistive devices to increase participation

what are types of PT interventions?

Gait training
Positioning/posture
Splinting or bracing
ADs
Education
Balance
Strength
mobility/flexibility
Safe movement patterns
Weight bearing
Swimming/pool therapy**
Preventive care

what is primarily targeted with strengthening?

extensor musculature in LE, some arms to be able to lift themselves up

what are contraindications to treatment?

avoid high impact activities, fast change of movements, over pushing intensity, joint mob/manipulations, overstretching, unsupported weight bearing activities, and overloading exercises
gentle exercises, supported and controlled strengthening activities, bone health/fx prevention, and safe and controlled movements

what are contraindications to evaluation?

PAIN should never be overlooked with this population as it could relate to a fx
CONSULT WITH OI SPECIALIST → encourage caregiver/family participation and education
forceful MMTs should not be main concern with this population
focus on ROM as hypermobility is expected and FALL RISK
always monitor vitals/fatigue/integument/pain throughout session

OI can commonly be mistaken as _______

child abuse