Osteogenesis Imperfecta (OI) (final)

What is Osteogenesis Imperfecta (OI) often referred to as?

And it is characterized by what 3 things?

• it is an inherited disorder of what tissue, or what else?

  • what type of collagen is missing and how does this affect the bones in 2 ways?

• Several what has been identified for OI?

- aka brittle bones disease,

characterized by lax joints, weak muscles, diffuse osteoporosis

- inherited disorder of connective tissue, or novel mutation

• type I collagen missing —> bones are weak and fragile

- several causative factors have been identified

1978 Sillence and Danks classified how many genetic types of OI?

• it has expanded to how many?

• Which types affects COL1A1 and COL1A2?

  • encode for which type of collagen?

• Which types do not have type I collagen defect?

classified 4 genetic types

• expanded to over 20 types

• I-IV affect COL1A1 and COL1A2

  • type I collagen

• V-XXI do not have type I collagen defect

In type I OI, whats the range of bone fragility? how many fractures?

• how much bone malformation?

• when do most fractures occur?

• what is the birth height/weight?

• are the muscles strong/weak?

• Mild to moderate bone fragility with few to several fractures

• Little or no bone malformation

• Most fractures occur before puberty

• Normal birth height/weight

• Muscle weakness

In type 1 OI:

• joint laxity or hypomobility?

• what feet position?

• dislocations and what?

• what is life expectancy?

• associated w/ what color sclera, shape of face, and type of hearing loss?

• Joint laxity

• Flat feet

• Dislocations and sprains

• Average life expectancy

• Associated with blue sclera, triangle face, and conductive hearing loss

How severe is Type II OI?

How much bone fragility?

Not compatible with what?

How much do not survive and by when?

- most severe form

• extreme bone fragility

- not compatible with life

- 80% do not survive past 1 week

Is OI Type III often autosomal dominant or recessive inheritance?

How bad is the presentation?

Progressive deformity of what 3 bones? = ?

What else?

- often autosomal dominant, rarely recessive

- severe presentation

- long bones, skull, and spine = short stature

- dentinogenesis imperfecta 45%

In OI type 3:

How does type III affect teeth?

What about hearing loss?

How bad/good is the kyphoscoliosis?

• what may it result in what?

- dentinogenesis imperfecta 45%

- hearing loss common

- kyphoscoliosis - severe

• may result in respiratory compromise

How much bone fragility in OI Type IV?

• which deformity?

Is there dentinogenesis imperfecta?

What about hearing loss?

Prognosis for ambulation?

- Mild to moderate bone fragility

• Long bone deformity

- Dentinogenesis imperfecta - common

- Variable hearing loss

- Prognosis for ambulation is excellent

What is the order from mild to severe of the 4 types of OI?

1 - 4 - 3 - 2

For diagnosis of OI, what type manifestations do you look for?

What type of biopsy for those w/ what deficits?

ID ___ defect or mutation present

X-rays and bone scans show evidence of multiple old ___ and skeletal ___

• of the bone, where are fractures usually? Not where?

• clinical manifestations

• skin biopsy for those w/ collagen deficits

• ID collagen defect of mutation present

• evidence of multiple old fractures and skeletal deformities

  • fractures usually in the shaft of the bone, not epiphysis

Exam:

What are the 3 things you should assess? Which test name?

What 2 techniques? Give 3 examples

How do you assess ROM? And not what?

• pain assessment is important: FLACC

• assessment of caregiving handling and positioning techniques

  • diapering, dressing, bathing

• assess AROM and functional ranges

  • not PROM

Exam:

do you check for strength? What’s the correct way on checking it?

muscle strength through observation and palpation of muscles

Exam:

how do you assess for gross motor development? What 2 tests?

What is a good predictor of future walking ability?

• PDMS-2, Bayley

• sitting by 10 months = good predictor of future walking ability 

Exam:

what are 3 functional tests you can do?

gait speed, timed walk tests, TUG

What are 2 other tests you can do? What 3 things do they look at?

• PEDI or PEDI-CAT

  • function in ADLs, mobility, social/cognitive 

What’s contraindicated ?

Never use what 2 things?

• pull to sit is contraindicated

never use baby walker or jumping seats aka sling sit, which puts pressure on baby’s legs

Study the document!!!