Healthcare and medicine related topics Clinical medicine topic

1. Osteogenesis imperfecta

2. Osteogenesis imperfecta(OI) /fragilitas
ossium/brittle bones
• Osteogenesis imperfecta is an inherited disorder of connective tissue .
Salient impairements:
Lax joints
Weak muscles
Diffuse osteoporosis( results in recurrent fracture)

3. Types of OI
OI congenita
OI Tarda
Tarda gravis
Tarda levis
OI CSSIFICATION BASED ON ????
Clinical and descriptive characteristics i.e
Fracture healing and spinal deformities
Classification of OI

4. Osteogenesis imperfect congenita(OIC)
• The most sever and disabling form.
• Have poor prognosis with a high mortality rate.by intracranial hemorrhage at birth or
recurrent respiratory tract infection at infancy
• Characterizedby
• Numerous fractures at birth
• Dwarfism
• Bowing &deformity of long bones.
• Blue scalre(80%)
• Dentinogenesis imperfecta(80%)

5. Osteogenesis imperfecta trada(OIT)
(milder form of OI)
• Fractures occur after birth has been subclassified
Degree of bowing
of extremities
Number of
fractures
The degree of bowing also indicates the potential need
for surgical intervention

6. Types of OIT
TYPE 1
• Dentinogenesis imperfecta
• Short strature
• Bowing of lower extremities
• Upper extremity are not bowed
• Can ambulate but need orthosis for lower
extremity
• Surgery indicated for long bones deformity
Type 2
• Least disabling form of OI
• Fractures occur at 1st year
• No bowing of lower extremity
• Childern approach average hight &
have excellent prognosis for
ambulation

7. pathophysiology
• There is defect in collagen synthesis
• Or an abnormality in processing procollagen to type 1 collagen, apparently
causing the bones to be brittle.
• This defect effects the formation of both enchondral and intramembranous
bone.
• The collagen fibers fail to mature beyond the reticular fiber stage.
• Studies shows, osteoblast has normal and increased activity but fails to
produce and organize the collagen .
• Gene defect: caused by novel mutation of gene and passed to the offspring.
• Mildly affected parent can give birth to severely affected child.

9. Medical management
the management is conservative/symptomatic
• Treatment for respiratory tract infection
For inherited OI gene therapy, include cell
replacement of the mutant gene,bone marrow
transplant,mutant allele suppression.
For fractures; Orthopedic management for fractures.
medication & dietary supplements for recurrent
fractures e.g bisphosphates.
Immobilization: splinting, thermoplastic material,
orthosis, hip Spica.
Most successful is fracture stabilization in long bones is
internal fixation by rods.

10. Examination,evaluation and intervention
• INFANCY
• Serious impairments : rib fracture(pulomary status) & skull fracture(nural staus)
• Moderate to severe: parent has anxiety about holding the infant for fear of fracturing.
Children with severe OI have reduced mobility are unable to achieve age appropriate ADL or
play in normal peer environment.
• These children have special needs regarding handling, positioning, and playing.
• Cure and treatment :At this stage, minimizing fractures,futhur muscle weakness and laxity
is paramount.
physical therapy, home programe,parental education

11. Main features for evaluation
• Large head, with soft membranous skull, short & deformed limbs.
• Broad forehead and fatiocranial disproportions(triangular shape).
• Radiographically:fractures present by birth,
• Bones are short & wide, with thin cortices,
• Diaphysis wide metaphysis
• Crepitation can be palpated
• Pain assessment tool ; FLACC (face,leg,activity,cry,consolability)
• Asses caregiver’s handling positioning,dressing,diapering,bathing are assessed.
• Asses active ROM &FROM
• Assessing Muscle strength is done through observation, no use of formal muscle testing is
required
• They have delayed milestones achievement. but have well cognition

13. Physical therapy intervention
• Positioning to reduce risk of fractures and reduce joint malaligment &
deformities.

15. Preschool period
• Bone fragility, joint laxity,& reduced muscle strength continue to be present, but now accompanied by
secondary impairments of disuse atrophy & osteoporosis from fracture immobilization.
• This limits mobility and restrict participation in play & socialization.
• Micro fractures from Repeated trauma at epiphyseal plate, resulting in arrested growth and leg length
discrepancy.
• If child walk without adequate support may lead to bowing of weak bones.

16. Cure and positioning
• Protected weight bearing and self mobility for enhanced independence.
• Proper positioning , handling& transferring are still important.
• Child must have adequate upright control to begin bearing weight,at very last weight
bearing in standing position.
• The management principal used is to stress the lower limb and support the
weakened structures through compression of musculature around the bone. By
orthosis

17. Exercises to increase muscle strength of the weakened muscles
• Hip extensors and abducted muscles are weak.
Racket for upper body strength &basketball to
maximize trunk extension
Aquatic program for strengthening muscles
through resistance by water, cardiovascular
fitness &bear weight in protected
environment.
Deep breathing for respiratory fitness

19. Thank you…!