What is Osteogenesis Imperfecta (OI)?

  • A genetic disorder mainly affecting bones
  • People with this condition have bones that break easily, often from mild trauma or with no apparent cause
  • Multiple fractures are common
  • Prevalence: estimated at 1 in 10,000 new births
Types of OI:
  • type 1 (mild)
  • type 2 (lethal)
  • type 3 (severe with progressive deformity)
  • type 4 (moderately severe)
Clinical Manifestations:
  • bone fragility
  • short stature
  • long bone deformities
  • bone pain
  • low muscle mass
  • hypermobility
  • blue sclera (in some)

Case:
  • Term baby
  • Presenting swelling over Rt thigh and decrease movement at 2 hrs of life in postnatal ward.
  • Later found multiple fractures

Medical treatment:

Fracture

  • Consult ortho
  • Pavlik harness jacket
  • Splintage
  • Repeated Xray to monitor healing

Nutrition

  • Vit D help our bodies to absorb calcium for good bone health
  • Vit D deficiency (D1 40; normal value: 51-250)
  • Given polyvisol on D11; Cholecalciferol (4000IU vit D) on D21
  • Latest vit D level: 135

Given Bisphosphonate IVI on D60

  • increase bone mass
  • reduce bone pain
  • decrease frequency of fractures
  • improve vertebral size and shape
  • Side effects:
    • fever, malaise, bone and back pain, nausea & vomiting
    • Hypocalcemia: Muscle twitch, jitteriness, poor feed, irritability, tremors, seizures.

Nursing Management

Goals:

  1. Prevent all negative consequences associated with OI
  2. Aid development of baby with multidisciplinary team
  3. Involve family in baby's care and facilitate discharge

Physical Assessment

  • Fracture is a common occurrence in a patent with OI and symptoms can be detected in a physical exam
  • Access patient with head to toe exam
  • Check perfusion and movement of bilateral limbs
  • Check any abnormal crying which is associated with pain
  • Identify fracture early and prevent any complication as early as possible

Safe Handling

  • Never pull, push or twist a limb
  • Avoid passive rotation of the arms, legs, head or trunk
  • Lift the baby with the widest base possible
  • Lift by placing one hand under buttocks and legs and the other under shoulder, necks and heads
  • Do not lift the baby under armpits which can cause rib fracture
  • Be aware of the patient's arms and legs at all time to avoid any awkward position

Positioning

Aims

  • Prevent fractures
  • Prevent Misalignment of joints & Deformities
  • Use towel rolls and padding to build soft border in beds

Prevent Basilar impression

  • Deformation of occipital cervical junction leading to pressure on brainstem and cranial nerve
    • Avoid upright position until baby has enough head control
    • Delay upright sitting until baby has sufficient neck and back extensor strength

Prevent plagiocephaly

  • Use concave skull gel pad
  • Encourage alternative side head turn

Use blanket rolls to avoid any frog leg position

Change position frequently & do not restrict spontaneous movement

Changing Napkin

  • Do not lift the baby by pulling legs or ankles
  • Lift the baby by supporting the buttock with one hand and place the napkin by another hand
  • Roll the baby from side to side is another option

Bathing

  • Use supported sponge bath
  • Place a folded towels on the bottom of the tub

Dressing

  • Do not pull or twist any limbs
  • Choose clothing that open wide
  • Choose 1-2 size larger clothes

Feeding

  • Watch the extremities to avoid abnormal positioning
  • Feed slightly inclined on a pillow if necessary
  • Gentle burping and rubbing baby's back can be done
  • Normal burping can lead to ribs fracture

Aid Development of baby with PT & OT

Physiotherapy

  • Help developing gross motor skills e.g. tummy time, reaching and sitting
  • Physical exercises to promote gross motor development

Occupational therapy

  • Advise and offer adaptive equipment and "homemade" solutions to everyday challenges e.g. car transportation, splintage for IV access/ blood take

Family-centered Care

Psychological Support

  • Refer MSW, psy and clincal psy
  • Joint meeting held for parents with pediatricians, orthopedists, geneticist to let parents understand baby's progress
  • Introduce buddy and support group

Empower the parents to care

  • Promote parents' competencies in caring baby
  • Educate parents about the positioning strategies
  • Teach parents the s/s of fractures and splinting strategies until they seek medical support
Last but not least
  • Be gentle, gentle and gentle
  • Help the baby and parents to live with OI supported by the multidisciplinary team


Brief Resolved Unexplained Event (BRUE) 

Brief Resolved Unexplained Event (BRUE) is the new term and has replaced Apparent life threatening event (ALTE)
  • It is a description rather than diagnosis