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Osteogenesis Imperfecta Flashcards

1
Q

What is Osteogenesis Imperfecta?

A
  • Inherited disorder of connective tissue
  • “Brittle Bones Disease” or “Fragilitas Ossium”
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2
Q

Osteogenesis Imperfecta Prognosis

A
  • Depends on severity of disease which ranges from mild-severe
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3
Q

Osteogenesis Imperfecta

More deets:

A

Comprises a # of distinct syndromes w/ great variability in its manifestations

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4
Q

Osteogenesis Imperfecta Pathophys.

A
  • Defect in collagen synthesis
    • → abnormality in processing Type 1 collagen
  • Osteoblasts normal BUT collagen fails to mature
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5
Q

Impairments of OI

3 that lead to recurrent fx’s

A

Lax jts

Weak mm’s

Diffuse OP

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6
Q

Impairments of OI

A
  • Lax jts, Weak mm’s, Diffuse OP→ Recurrent fx’s
  • Additional:
    • Blue sclera (eyes), Dentinogenesis imperfecta, deafness, hernias, bruising, hyperhyrdosis (excess sweating), facial deforms (triangle head)
  • Cognition→ usually @ or above avg*
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7
Q

2 Main Classifications of OI

A
  1. Looser Class→ (2 types)
  2. Sillence Class→ (4 types)
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8
Q

Main type of OI: Looser

Looser has ___ types

A

2

*remember this: Looser has 2 O’s, so therefore Looser has 2 types, or just loser spelled w/ 2 O’s

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9
Q

Main types of OI: Sillence

Sillence has ___ types

A

4

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10
Q

Looser System (2 types bc 2 O’s)

2 types in Looser Class.

A
  1. OI Congenita
    1. Most severe
    2. MANY Fx’s @ birth (congenita think congenital (birth)
  2. OI Tarda
    1. Mild (bc opp of congenita)
    2. Fx’s after birth (think Tarda like Tardy, LATE, so AFTER birth)
    3. 2 sub-cats:
      1. OI Tarda Gravis
      2. OI Tarda Levis
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11
Q

OI Tarda Sub-Categories

Gravis vs Levis

A
  • OIT Gravis
    • bowing of LEs
    • amb. w/ orthotics
    • short stature
  • OIT Levis
    • LEAST disabling in Loose Class.
    • amb prognosis EXCELLENT
    • approach avg. ht.
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12
Q

Sillence OI has ____

A

4 types

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13
Q

Sillence and Danks Class.

Based on 4 genetic types of OI:

A

4 genetic types:

Type 1-Type 4

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14
Q

Sillence (4 types) easy to remember bc its just called….

A

Type 1-Type 4

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15
Q

Sillence and Danks OI Classification

All types listed out first then broken down

A
  • Type I→
    • GENERALIZED osteoporosis and bone fragility, jt. hypERlax, hearing loss, gen. short stature
  • Type II→ MOST SEVERE***
    • NOT compatible w/ life; stillborn or die soon after delivery
  • Type III→ RARE, but severe
    • Mod. deformity present from birth and cont’s to deform long bones, skull, spine
    • VERY short stature
  • Type IV→ Rare, more mild
    • Typ GOOD prognosis for ambulation
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16
Q

Sillence and Danks Class.

Type I

A

Gen. osteoporosis and bone fragility, jt hypERlax, hearing loss, gen. short stature

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17
Q

Sillence and Danks Class.

Type II: MOST SEVERE

A

MOST SEVERE

Not compatible w/ life; stillborn or die soon after delivery

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18
Q

Sillence and Danks Class.

Type III

A

Rare, but severe

Moderate deform present from birth and cont’s to deform long bones, skull, spine

VERY short stature**

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19
Q

Sillence and Danks Class.

Type IV:

A

Also rare, mild

Typ. good prognosis for ambulation

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20
Q

Bone Deforms of OI

A

see pics

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21
Q

Medical Mgmt OI

A
  • NO meds to strengthen bone tissue*
  • Tx w/ ortho procedures→ alignment/dec deformity, Resp. care for severe cases
  • MgO2, fluoride, Ca+ supps→ dec Fx (limtd success)
  • Biphosphonates (hormones) w/ menopausal women
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22
Q

Fractures in OI→ The Vicious Cylce

A
  • Once fx occurs→ bone more susceptible to re-fx
    • Already weakened structure predisposes child → limb deforms from bowing of long bones, asymm growth, jt contractures
  • Immobilization to assist setting bone in align.==> Disuse OP; but reqd for healing**
    • → further puts bone @ higher risk for fx*
  • Goal→ LIMIT immob. of extremities as much as possible*
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23
Q

Fx’s in OI:

Best methods:

A
  • Best method for fx→ Stabilization of long bones via internal fixation w/ intramedullary rods
    • Prevent further weakening→ EARLY WB w/ orthotics initiated ASAP
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24
Q

Fx’s in OI

Spinal Deformities?

A

50% cases

  • Do NOT respond to bracing
    • Sx for severe curves
25
Dx/Prognosis OI
* Mild-Mod OI→ may not be dx'd @ birth but **after fx occur from barely any trauma** * ex. broken humerus getting pulled out of car seat * **Collagen studies, DEXA, XRay→ R/O other dx's** * **Prognosis→** depends on **type** * **All pts w/ OI→** Fx rate _diminishes_ **near or after puberty\*\*\***
26
OI Differential Dx
Leukemia, Idiopathic Juvenile Osteoporosis, Achondroplasia
27
PT Infancy Examination of OI
* **Be aware→** medical hx: understand fx hx and immob. tech's * **Pain→** FLACC * **Caregivers handling tech's→** feeding, transfers, diapering, play * **ROM:** * Goni can be used\* (size approp.) * AROM/Functional ROM * Ex. to what extent hands to mouth * **PROM is _CONTRAINDICATED_ in this pop!!!**
28
PROM _CONTRAINDICATED_ IN OI POPULATION!!!
!!!!!!!!!!!!!!
29
Good prognosis for **ambulation in Infancy w/ OI**
**Sitting** by **10mos** \*\*\*\* KNOW FOR TEST!!!!
30
PT Infancy Exam: OI ## Footnote **continued: Strength, Gross motor**
* **Strength→** observe **mvmt/motor skills→ NO MMT!!!** * **Gross motor abilities→** Delays often * **\*\*_Sitting_ by 10mos==\> Good prognosis for amb.!!! (on test)** * Assess approp. of DME w/ child * car seats, high chairs, strollers
31
PT Infancy Examination: OI ## Footnote **Standardized Assessments for this pop.**
PDMS-2, PEDI, Bayley Scales of Infant Dev. II, Brief Assessment of Motor Function (**quick descriptive for gross, fine, and oral motor perform.)**
32
PT Rx in Infancy for OI ## Footnote **Goals:**
* **Goal @ this stage→ MINIMIZE:** * Fx's, strength defs/weakness, deformities from jt laxity
33
PT Rx in Infancy of OI ## Footnote **NICU\***
for more severe cases fx's in utero/or from birth * **Skull and/or vertebral fx=\>** Neuro damage * **Rib Fx's=\>** resp/cardiac involvement * **Decd parent bonding time=\>** incd parent anxiety
34
PT Rx in Infancy \*\***Parent Education for ____ and \_\_\_\_\_\_** **\*\*\*ON TEST KNOW IT!!!!**
Handling and positioning
35
PT Rx in Infancy OI
* **Parent Education** for **handling** and **positioning\*\*\* (on test!!!)** * forces NOT placed across **long bones** * Head/neck fully supported w/ UEs and LEs draped over support arm * Pillow to pad infant during carrying * Loose clothing and front/side velcro closures to ease dressing * **Overdressing** should be **AVOIDED→** reduce overheat/sweating * **Bathing→** padded/plastic basin w/ adeq. head support
36
Physical Therapy Rx in Infancy ## Footnote **More guidelines** **Diapers, Carriers/Car seats, OT imps:**
* **Diaper changes→** * rolling tech, **NEVER lift by ankles\*\*\*** * **Carrier/Car seats→** customized for child w/ adeq pad/support * may pad strap system→ snug fit w/out stress on bone * **custom orthotic type inserts→** prevent dangling of LEs while riding * **Remain _rear-facing_ as long as possible\*\*\*** * **Work w/ OT for modifications** * **_NO percussion w/ CPT_\*\*\*\*\*\***
37
No percussion in CPT w/ OI!!!!
\*\*\*\*\*\*\*\*\*\*\*\*\*
38
PT Rx in Infancy ## Footnote **Positioning, S/L, Prone, Supine**
* **Positioning→** change freq, **should not restrict active/spontaneous mvmts** * **S/L→** support w/ towel rolls behind back and thru LEs/arms * **Prone→** If tolerable, over short roll/wedge under chest * allows _safe strengthening of UEs_ via **gentle WB** * **Supine→** support @ arms/LEs w/ towel rolls * **Hips-Neutral rotation** * **Knees→ supported underneath w/ towel roll**
39
PT Rx in Infancy ## Footnote **PT and family, Developmental Activities**
* PT assists family in ID'ing safe/approp toys and play pos's * **Dev. Activities _encouraged!_→ Rolling, Sitting** * **Rolling→** Infants UE placed alongside head * **Supported sitting→** seat inserts/corner chairs * **Once adeq. head control→** short sitting obtained, AVOID rotation forces across LEs
40
Pull→Sit from hands in Infancy OI
**CONTRAINDICATED!!!**
41
Pool Therapy for infants w/ OI ## Footnote **start when?**
early as 6mos\*\*\*
42
PT Rx in Infancy OI ## Footnote **Facilitation and other forms of Tx**
* **Hand placement** during **facilitation/positioning=\> CRITICAL\*** * \*\*Pull→ Sit from hands=\> **_CONTRAINDICATED_!!** * Support **behind shoulders** as child actively sits * **Ball work→** PTs hands @ proximal pelvis vs @ legs/feets * **Walkers, jumpers, exercausers==\> CAUTION** * Pool Therapy→ **6mos\*\*\*** * Splint fabrications post-fx
43
PT Exam Preschool Age OI ## Footnote **_Essential_ @ this stage?**
Eval of **modes of mobility and adapted equipment\*\*\***
44
PT Exam Preschool Age OI
* In add. to infancy info→ **eval of modes of mobility/adapted equip. ESSENTIAL @ this stage\*\*\*** * **Standardized Assess's:** * PDMS-2 * PEDI * Brief Assessment of Motor Function (BAMF) * **Pain→ Wong Baker Faces Scale\*\*\***
45
Pain→ Preschool→ Wong Baker Faces Scale
**P**ain→**P**reschool→ **Wong Baker**
46
PT Rx in Preschool Age and OI ## Footnote **Disuse atrophy and OP**
Disuse atrophy and OP @ this stage\*\*\* * Structural changes impact participation * **Dev. motor skills lag due to fx's** * **Goal of PT @ this stage→** _Protected WB and Self-mobility_→ Independence * **Handling/position STILL important→** but now child can become active participant in care
47
PT Rx in Preschool Age OI ## Footnote **Equipment mods, WB, Orthotics**
* **Equipment mods:** * IMPORTANT!→ esp car seats as they outgrow infant carriers * **Protected WB→** W/ bracing, typ **not done outside orthotics** due to tendency for bowing long bones * can be customized * **Orthotics→** * HKAFOs may **dec bowing** w/ **decd incidence of fx's** * Air splints to support standing→ **caution overheating\***
48
PT Rx for Preschool Age OI ## Footnote **Exercise!**
* **Active Exercise:** * Bolster straddling sit to stand (exactly how it sounds, straddle bolster and bring butt to it and stand→ GREAT IDEA!) * **Lt weights w/ incremental inc's** * **\*\*\***Watch _torque_ on lg joints\*\*\* (on test!!!!) * Gym activities→ * scooters, adapted trike, Simon says/RLGL, overhead reaching (toss w/ lt. ball) * **Cannot amb→** scooter/power mobility addressed to allow ability to part. w/ peers
49
PT RX in Preschool Age OI ## Footnote **Aquatic progam**
STILL APPROPRIATE!!! * **Aids resp. health** * **Warm pool limit→** 20-30mins\*\*\* * \*poor thermoreg. * Stand in water→ lower lvl pts w/ orthotics in water * **Good idea to utilize splints in water if recent fx**
50
Decd Fx rate in OI when?
~Puberty\*\*\*
51
School Age and Adolescence OI
* **Reduced mobility and IND w/ ADLs:** * Decd social part, social stigma, decd confidence, social iso., decd adjust. to school * Overprotective parents * Encourage **positive attitude and participation!** * **\*Spinal deforms increase→** tx w/ _spinal fusion_ * DECd fx rate=\> ~puberty
52
Spinal deformities of OI increase in this stage
School Age and Adolescence
53
WHY does **Fx Rate DEC?**
* Hormones, improved IND w/ prevention, improved coord/body aware., incd bone strength, amb. w/out bracing less risky @ this age * **Previously used WC→** MAY be able to achieve household amb w/ supports\*\*\*
54
IND in **_Mobility_ crucial @ this stage:**
School Age and Adolescence
55
PT RX School Age and Ado. ## Footnote **Continue addressing…**
* Endurance, strength, ROM * **Functional mobility\*** * IND in _mobility_ CRUCIAL @ this stage\*\*\* * Some gain IND to amb in home→ **community amb _not feasible_ for most @ this stage 2\*** * short stature, incd energy expend, reduced strength/mm power
56
PT Rx School Age and Ado.
* Strength+Endurance programs w/ **child's goals in mind** * progressive resistance acts, wts, adapted sports * adapted PE gym class * emphasize **fitness+overall well-being\*** * **Encourage to share chore-load @ home** * self-confidence/worth, improve fam relations
57
PT Implications **Transition to Adulthood OI**
* Needs continue 2\* onset of: * **incd pain, contd OP, worsening spinal deforms,** changing _mobility needs_ as move from edu. setting→ career
58
OI Conclusions:
* OI =\> sig. deformity and disability * PT→ positive impact children w/ OI and families * **Strength, environ. adapts, parent/caregiver edu=\> _CRUCIAL_** * EARLY PT intervention=\> helps **prevent deforms** * Bc these children are @ or above lvl for cog→ **overall focus of tx across all ages→** * **Maximize IND, social interact, edu.** so that they may develop into functional adults who can part. normally in day to day life\*\*\*\*

Pediatrics (27 decks)

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