Osteogenesis Imperfecta Flashcards
What is Osteogenesis Imperfecta?
- Inherited disorder of connective tissue
- “Brittle Bones Disease” or “Fragilitas Ossium”
Osteogenesis Imperfecta Prognosis
- Depends on severity of disease which ranges from mild-severe
Osteogenesis Imperfecta
More deets:
Comprises a # of distinct syndromes w/ great variability in its manifestations
Osteogenesis Imperfecta Pathophys.
- Defect in collagen synthesis
- → abnormality in processing Type 1 collagen
- Osteoblasts normal BUT collagen fails to mature
Impairments of OI
3 that lead to recurrent fx’s
Lax jts
Weak mm’s
Diffuse OP
Impairments of OI
- 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*
2 Main Classifications of OI
- Looser Class→ (2 types)
- Sillence Class→ (4 types)
Main type of OI: Looser
Looser has ___ types
2
*remember this: Looser has 2 O’s, so therefore Looser has 2 types, or just loser spelled w/ 2 O’s
Main types of OI: Sillence
Sillence has ___ types
4
Looser System (2 types bc 2 O’s)
2 types in Looser Class.
-
OI Congenita
- Most severe
- MANY Fx’s @ birth (congenita think congenital (birth)
-
OI Tarda
- Mild (bc opp of congenita)
- Fx’s after birth (think Tarda like Tardy, LATE, so AFTER birth)
-
2 sub-cats:
- OI Tarda Gravis
- OI Tarda Levis
OI Tarda Sub-Categories
Gravis vs Levis
-
OIT Gravis
- bowing of LEs
- amb. w/ orthotics
- short stature
-
OIT Levis
- LEAST disabling in Loose Class.
- amb prognosis EXCELLENT
- approach avg. ht.
Sillence OI has ____
4 types
Sillence and Danks Class.
Based on 4 genetic types of OI:
4 genetic types:
Type 1-Type 4
Sillence (4 types) easy to remember bc its just called….
Type 1-Type 4
Sillence and Danks OI Classification
All types listed out first then broken down
-
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
Sillence and Danks Class.
Type I
Gen. osteoporosis and bone fragility, jt hypERlax, hearing loss, gen. short stature
Sillence and Danks Class.
Type II: MOST SEVERE
MOST SEVERE
Not compatible w/ life; stillborn or die soon after delivery
Sillence and Danks Class.
Type III
Rare, but severe
Moderate deform present from birth and cont’s to deform long bones, skull, spine
VERY short stature**
Sillence and Danks Class.
Type IV:
Also rare, mild
Typ. good prognosis for ambulation
Bone Deforms of OI
see pics
Medical Mgmt OI
- 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
Fractures in OI→ The Vicious Cylce
- 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*
Fx’s in OI:
Best methods:
-
Best method for fx→ Stabilization of long bones via internal fixation w/ intramedullary rods
- Prevent further weakening→ EARLY WB w/ orthotics initiated ASAP
Fx’s in OI
Spinal Deformities?
50% cases
- Do NOT respond to bracing
- Sx for severe curves
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***
OI Differential Dx
Leukemia, Idiopathic Juvenile Osteoporosis, Achondroplasia
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!!!
PROM CONTRAINDICATED IN OI POPULATION!!!
!!!!!!!!!!!!!!
Good prognosis for ambulation in Infancy w/ OI
Sitting by 10mos **** KNOW FOR TEST!!!!
PT Infancy Exam: OI
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
PT Infancy Examination: OI
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.)
PT Rx in Infancy for OI
Goals:
-
Goal @ this stage→ MINIMIZE:
- Fx’s, strength defs/weakness, deformities from jt laxity
PT Rx in Infancy of OI
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
PT Rx in Infancy
**Parent Education for ____ and ______
***ON TEST KNOW IT!!!!
Handling and positioning
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
Physical Therapy Rx in Infancy
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******
No percussion in CPT w/ OI!!!!
*************
PT Rx in Infancy
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
PT Rx in Infancy
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
Pull→Sit from hands in Infancy OI
CONTRAINDICATED!!!
Pool Therapy for infants w/ OI
start when?
early as 6mos***
PT Rx in Infancy OI
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
PT Exam Preschool Age OI
Essential @ this stage?
Eval of modes of mobility and adapted equipment***
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***
Pain→ Preschool→ Wong Baker Faces Scale
Pain→Preschool→ Wong Baker
PT Rx in Preschool Age and OI
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
PT Rx in Preschool Age OI
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*
PT Rx for Preschool Age OI
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
PT RX in Preschool Age OI
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
Decd Fx rate in OI when?
~Puberty***
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
Spinal deformities of OI increase in this stage
School Age and Adolescence
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***
IND in Mobility crucial @ this stage:
School Age and Adolescence
PT RX School Age and Ado.
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
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
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
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****
