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Topics in Peds > Osteogenesis Imperfecta > Flashcards

Osteogenesis Imperfecta Flashcards

1
Q

What is osteogenesis imperfecta?

A

 Genetic disorder – several subtypes
 Usually autosomal dominant (Types I-IV)
 Can be autosomal recessive (Types VII, VIII – identified in 2006)
 Other types non-specific genetics. Can be spontaneous mutation

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2
Q

osteogenesis imperfecta is what kind of disease?

A

 Connective tissue disease
 Impaired Type I collagen synthesis (skeleton, organ systems)
 1:10,000-20,000 individuals
 No racial, ethnic patterns of inheritance
 Equal boys and girls

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3
Q

summary of histological bone abnormalities

A
  • bone has a smaller than normal external size (bone thickness) because of sluggish periostea bone formation
  • trebeculae are reduced in number and are abnormally thin
  • although individual osteoblasts produce less bone than norma, the overall bone formation rate in the trebecular compartment is amplified
  • increase does not lead to a net gain in trabecular bone bc bone resorption is also enhanced
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4
Q

OI Wynne-Davis Sillence Types

A

 Type I: Mild form, AD
 Type II: Most severe, lethal, AD
 Type III: Most severe compatible with life, AD
 Type IV: Heterogeneous, AD &AR. Source of new types

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5
Q

Sillence Type I

A
  • autosomal dominant
  • blue sclerae
  • mild shortening
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6
Q

OI Lethal - Sillence Type II

A
  • uncommon
  • autosomal dominant
  • intrauterine or infantile death
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7
Q

Type III

A
  • Autosomal Dominant
  • Blue to white sclera
  • sibling involvement
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8
Q

OI Sporadic - Type IV

A
  • Common
  • Autosomal Dominant
  • Blue to white sclera
  • Intermediate severity
  • stature moderate to severe shortening
  • Many different subtypes
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9
Q

mechanism of spinal deformity in OI

A

inability to withstand compressive load

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10
Q

spinal deformity in OI

A
  • inability to withstand compressive loads
  • Vertebral Fractures/ compression fractures bc of decreased BMD
  • Ligamentous Laxity
  • Loss of Mechanical Stability
  • Earlier onset
  • Poor response to corrective
  • Braces or surgery
  • Progression independent of growth
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11
Q

Incidence in Scoliosis by type

A
  • I: 39%
  • II: 0%
  • III: 68%
  • IV: 54%
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12
Q

hypertrophic callus

A

kids develop fever, increased leukocytes
- common post op treatment to address callus formation

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13
Q

signs and symptoms

A
  • fractures
  • skeletal abnormalities
  • muscle weakness
  • ligamentous laxity: can be hypo or hyper mobile
  • dentition: poor growth formation of teeth, structurally weak, discoloration
  • hearing: bones in our ears
  • sclera: collagen here too so we see that gray/blue tint
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14
Q

What is the hallmark sign?

A

bowing of long bones

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15
Q

Rarely have…

A

COG problems

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16
Q

fractures

A
  • can have tons as they are developing
  • rate of fractures decrease with puberty
  • healing time is equal to normal people
  • callous formation is abnormal
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17
Q

OI fracture assessment and statistical model

A
  • to find how much we can stress/load these kids to help them but not cause fractures
  • clinical assessments + Nonotek to assess cortical/trabecular bone properties + motion analysis + muscle loads + finite element analysis
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18
Q

How is spinal deformity different than other scoliosis?

A
  • earlier onset
  • poor response to corrective braces/surgery
  • progression independent to growth
  • spondylolisthesis happens too
19
Q

Basilar Invagination

A
  • kids have larger heads and shorter trunks so foramen magnum is bigger
  • this plus ligamentous laxity can cause cerebellum type herniation
  • something to watch for if they start to show UMN signs
20
Q

more distal weakness

A
  • especially PF
21
Q

weakness effect on gait

A
  • more time in double limb support
  • gait speed is reduced
  • more time in stance phase than swing phase
  • tend to have an overall more “cautious” gait pattern prioritizing stability over mobility
  • more lig laxity = more knee hypertext during midstance
  • decrease in overall PF during pushoff
  • lack of ability to generate power @ ankle
22
Q

Foot pressure analysis

A
  • COP should change throughout stance
  • severe valgus –> 70% of stance is spent loading the mid foot instead of a progressive hindfoot–> midfoot –> forefoot
  • more contact pressure @ midfoot + more collapse of plantar aponeurosis + medial longitudinal arch
  • load the midfoot more medially too/valgus loading
23
Q

Medial mangement

A
  • nutrition
  • meds: most not great, pamidronate biphosphates may decrease bone resorption + increase BMD
  • ANY interventions have to maximize opportunity to increase BMD so bones can withstand more stresses before failure
  • Bracing
  • Surgery
24
Q

Bracing

A
  • useful to provide support and correct alignment –> bowing of long bones and decrease pain
  • we want to improve ADLs and time spent upright to promote WB
  • but putting brace on causes immobilization so that can decrease bone density
  • balance is hard
25
Q

surgery

A
  • intermedullary rods = stabilize fracture –> want better alignment so then WE can put them in WBing to load the bones with less fear of fracture
26
Q

fracture –>

A

immobilization –> osteoporosis –> fracture
bad bad bad

27
Q

3 rehab issues

A
  • decreased CV fitness
  • msk deformity and fragility
  • functional limitations –> depends on type
28
Q

decreased CV fitness

A
  • change in thorax –> vertebral fx –> short thorax –> ribs horizontal so cant get thorax to expand to get air in
  • kyphotic/scoliotic
  • thoracic stiffness
  • vascular changes –> decrease BP (probs bc vessels are lax)
  • inactivity
29
Q

muscular deformity and fragility

A
  • fractures and poor healing
  • limb length deficiency
  • ROM –> in type one: decreases over time; in type 3 &4: more severe limitations + doesnt progress
30
Q

functional limitations: Type I

A
  • PEDI increases over time; similar to typically developing
31
Q

functional limitations: Type III and IV

A
  • functional abilities DO improve
  • need for parental assistance decreases
  • dont get tot typically developing but we can help a lot w/ teen and compensatory strategies to get them more independent
  • very smart
32
Q

Pt management – sites for PT delivery

A
  • everywhere –> we have capacity to maximize participation in lots of areas
  • in clinic: manage orthotics; acute rehab post op or injury
  • EI and school: dont really need special ed; functional training, gait training, exercise
33
Q

Focus for PT intervention

A
  • participation
  • improve function
  • improve ROM to improve alignment
  • improve mm strength in trunk and extremities to improve alignment
34
Q

things you need to be more aware of in babies with OI

A
  • high fracture risk
  • parent training
  • handeling
  • positioning
  • normal development may be delayed bc of weakness and skeletal abnormalities
35
Q

handling babies with OI

A
  • want to support extremities when carrying
  • do not lift by feet!! change diapers with log rolling technique
  • avoid pushing, pulling, twisting extremities
36
Q

positioning for babies with OI

A
  • goal is to support extremities
  • add padding/shock absorption to surfaces
37
Q

signs and symptoms of fractures in babies with OI

A
  • crying
  • hypersensitive to touch
  • unwilling to move extremity
  • palpation to redness/heat/discoloration
38
Q

special issues in toddlers and preschool

A
  • focusing on independent mobility
  • gait training just gotta think of safety considerations
  • promote WBing to stimulate bone growth (standing programs)
39
Q

special issues in children

A
  • fracture rate may decrease as approaching puberty
  • post IM rod surgery –> watch for signs of rod slipping
  • this is the time kids get a lot of corrective surgeries
40
Q

signs of rod slipping

A
  • change in limb orientation
  • change in length of limb
  • bruising
  • bump at end of bone
41
Q

special issues in teens

A
  • weight control –> more weight = harder to move and participate in activity
  • change in body proportions = changes in ADL performant and effort of movement
  • working on functional independence and aerobic exercise
42
Q

lifespan considerations

A
  • moms with OI
  • pregnancy changes, birthing, motherhood, probs gonna need C section
  • adult ortho, PF training
43
Q
A

Topics in Peds (15 decks)

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