HSS spring achondroplasia & OI

  1. skeletal dysplasia, abasic def
    abnormalities in size & shape of limbs, trunk, skull ... seen w disproportional short stature
  2. skeletal dysplasia, seen how often?
    1/25,000 births
  3. most common skeletal dysplasia
  4. when can you diagnose achondroplasia?
    prenatal ultrasound
  5. how do you get achondroplasia?
    autosomal dominant, though it's rare to have a second child with it
  6. how does someone with achondroplasia look?
    • long bones in arms and legs are short
    • frontal bossing
    • mild face hypoplasia
    • head seems large, forehead is prominant
    • long bones are wide 2/2 flaring of metaphysis
    • diminised elbow extension
    • normal trunk lenght
    • av ht - 4 ft
  7. who has trident hands (space btwn 3rd & 4th fingers?)
  8. achondroplasia - affects skull and vert how?
    • narrow foramen magnum
    • short vert bodies
    • large IV disc heights
    • narrowed spinal canal
    • loose C1-2 jt
  9. neuro signs of achondroplasia
    • brisk reflexes
    • asymmetric reflexes
    • ankle clonus
    • hypotonia
    • early hand preference
  10. 3 health concerns for pts w achondroplasia
    • obesity
    • otitis media
    • abnormal skull structure w crowding of teeth

    (less common - T-L kyphosis, upper resp obstruction, hydrocephalus)
  11. who is achondroplasia likely to affect knees?
    genu varum
  12. 4 ways achondroplasia will appear in the spine
    • narrowing of foramen mangum
    • spinal stenosis
    • thoracolumbar kyphosis
    • lumbar lordosis
  13. 3 elements of dev delays in kids w achondroplasia
    • slow motor mvmnt & low muscle tone (hypotonia) -- walk at 2-3 y/o
    • ligament laxity
    • large head w disproportionate trunk & limbs
  14. cognition in kids w achondroplasia
    normal, tho speech may be rough at first bc of "tongue thrust"
  15. PT tx for achondroplasia in a nutshell
    kid needs control and strength and flexibility. Everywhere. Head control to gait training, it's all good. Vestibular input to working on sensory integration of various textures, can't go wrong.
  16. activities for kids w achondroplasia?
    • avoid high impact activities
    • go fro low risk -- swim, golf, ping-pong, bwoling, walking, biking
  17. why does a kid w achondroplasia need to work on wt bearing?
    • osteogenesis
    • key for bone healing and strengthening
  18. osteogenesis imperfecta is a genetic disorder of ___
    type 1 collagen -- this collagen is a triple helix, and in OI one strand isn't up to snuff
  19. incidence of osteogenesis imperfecta
    6-7/100,000 world wide
  20. typical characteristics of OI
    • osteopenia / fragile bones... multiple fractures
    • progressesive skeletal deformities (bowing)
    • ligament laxity
    • muscle weakness, esp abd & ext
    • blue sclera
    • short
    • hearing loss
    • brittle teeth
  21. 5 diffy diags for osteogenesis imperfecta
    • achondroplasia
    • menkes kinky-hair syndrome
    • rickets (lack of vit D/malnutrition)
    • osteopetrosis (failure of osteoclasts to resorb bone)
    • child abuse
  22. 4 trad types of osteogenesis imperfecta in order from mild to worst
    • type I: mildest, may go undiagnosed
    • type IV: btwn 1 and 3
    • type III: very severe
    • type II: lethal at birth
  23. cycle of OI
    fracture <-->increased risk of fractures <--> muscle weakness<-->decreased bone mass (osteopenia)<--> imobilization<--fracture
  24. bisphophonates
    • mes for osteogenesis imperfecta and for osteoporosis
    • imporves bone quality by increasing cortical thicness, bone ht, bone size in vert bodies, bone mineral density
  25. surgical management for osteogenesis imperfecta
    fassier-duval growing rod (implanted?)
  26. pamidronate
    med to strengthen bones in osteogenesis imperfecta
  27. osteotomy w intramedullary rodding
    • a surgical tx for osteogenesis imperfecta
    • kid must be able to walk, and must sit by age 2
    • rods go into bone for stability, fight bowing deformity, promote proper alignment
  28. PT eval specific to OI
    • PMH/PSH: get the type and number of fractures, bone density, radiographs
    • bisphosphonates: frequency & # of tx
    • developmental milestones
    • social/school info
    • assistive technology/bracing
  29. kids w osteogenesis imperfecta get tight where?
    • pecs
    • ilipsoas
    • hammies
    • gastroc
  30. kids w osteogenesis imperfecta need strengthening where?
    • hip abd and extensors
    • trunk/core strengthening
    • scap musculature
    • ankle PF/DF
  31. resp activity for kids w osteogenesis imperfecta?
    • yoga
    • diaphragmatic & lateral costal breathing
  32. PROM w osteogenesis imperfecta
    Don't. They're delicate, so don't pull or push. Likewise, limit distal resistance and torsional forces. Do MMT carefully, mildly.
  33. lordosis & rib cage in kids w osteogenesis imperfecta
    • increased lumbar lordosis
    • elevated rib cage
  34. outcome measures (tests) for activity for kids w osteogenesis imperfecta
    • Gross Motor Function Measure (GMFM)
    • Gillette Functional Assessment Questionnaire (FAQ) -- for parents to fill out
    • Functional Motor Scale (FMS)
    • Pediatric Disability Index (PEDI)
    •  (can't use Peabody bc you already know the kid is delayed)
  35. outcome measures for participation for kids w osteogenesis imperfecta
    • Children's assessment of participation and enjoyment (CAPE)
    • Pediatric disability index (PEDI)
  36. diff btwn PT for osteogenesis imperfecta stages I and IV vs mod to severe
    • I and IV: kind of usual stuff, though milder, low impact, but still balance, strenght, endurance, work on symmetry
    • more severe: a heap more gentle, and working on ADL (transfers...) simpler activities, self-care
  37. when might a kid w type III osteogenesis imperfecta start walking?
    2 yrs ... everything seems to come for them but a year or 2 late
  38. scoliosis in osteogenesis imperfecta pop - when to do fusion?
    if >60 degrees or interfering w cardiopulm
  39. wt bearing after IM rodding for osteogenesis imperfecta?
    • NWB for 6-8 weeks
    • start w gentle AAROM and aquatic strenghtening
    • progress to sitting wt shifts
    • monitor fatigue
    • overcome fear of wt bearing
  40. wt bearing progression
    • start w LE disociation, seated wt shifting, tibia wt bearing
    • the stand w walker
    • then gait/stance, pushing objects
    • then gait, stepping, improved clearance over obstacles
  41. main PT goal for osteogenesis imperfecta
    safte wt bearing for bone dev and mobility
  42. strategies for getting safe wt bearing and mobility for osteogenesis imperfecta kids
    • braces for protected wt bearing
    • supported static standing --> cruising --> RW gait
    • hip flexor and heel cord stretches
    • hip ext/abd & trunk strenghtening
    • quad strenght for sit <--> stand and gait

    beware though of trend - kid gets stronger, more confident --> riskier behavior --> new fractures
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HSS spring achondroplasia & OI
HSS spring achondroplasia & OI