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Pediatrics: Final Exam - Arthrogryposis Multiplex Congenita (AMC), Osteogenesis Imperfecta (OI), Muscular dystrophy (MD), and Spinal Muscular Atrophy (SMA)

Terms in this set (50)

What is AMC?
Non-progressive

Neuromuscular syndrome present at birth
AMC is characterized by?
1. Severe joint contractures -> in 2 or more body areas

2. Muscle weakness

3. Fibrosis
What is basic pathophysiological mechanism for AMC?
Multiple joint contractures - due to lack of fetal movement
Activity limitations?
mobility and self-care skills
Type 1 AMC: clinical manifestations?
1. Flexed and dislocated hips
2. Extended knees
3. Clubfeet
4. IR shoulders
5. flexed elbows
6. Flexed and ulnarly deviated wrists
7. Legs are jacknifed
Type 2 AMC: Clinical manifestations?
1. Abductued and ER hips
2. flexed knees
3. clubfeet
4. IR shouldres
5. Extended elbows
6. Flexed and ulnarly deviated wrists
7. "Froglike" legs
8. UE: waiters tip position (IR shoulder & extended elbow)
Common in both types of AMC?
Clubfeet
Flexed and ulnar dev. wrists
IR shoulders
What is meant that Ortho treatment should be timed for optimal benefits from the child?
Clubfood with minimally invasive surgical techniques (Ponseti method)
- Start approximately a month after child is born

Surgically reduce dislocated hips performed during first year of life

Timed so that the childs growth patterns are taken into consideration
What interventions are used during infancy?
Improve alignment

Reduce joint contractors
- stretching
- serial casting
- foot abduction braces
- positioning

Developmental skills
- ADL skills
- alternatives for mobility
- age-appropriate activities
What regimen in recommended for stretching?
Taught to parents and caregivers at initial eval

3-5 sets/day with 3-5 reps held for 20-30 seconds

Stretching is daily lifelong commitment

Most critical in first 2 years of life

Watch for skin breakdown and intolerance to various positions
What role do splints play?
Maintains a comfortable position of stretch without causing skin breakdown and intolerance

Adjusted for growth every 4-6 weeks during infancy

Splint in opposite direction of contracture

Family education is important!
What are intervention strategies for Preschool age?
Solving basic ADL challenges is key

Independent mobility, feeding, toileting
What are intervention strategies for School age and adolescents?
Daily ADLs

Assistive technology - helpful for those with limited hand function for school work on computers

continue splinting and stretching

Can help plan his or her schedule daily for adherence

Speed and safety in indep. mobility

Importance of standing and walking skills for max indep. in bathroom cannot be overstressed!!!
What is OI?
Inherited disorder of connective tissue
What are the impairments of OI?
Lax joints
weak mm
diffuse osteoporosis
deafness
hernias
easy bruising
excessive sweating
Problems overprotection causes?
- Social isolation
- Difficulty interacting w/peer
- Adjusting to regular school
- Achieves indep. for vocational goals
- Average or above average intelligence
What is the range of severity for OI?
Prognosis:
- Very mild --> Severe

Disability:
- Mild with no deformities ->extremely severe
- death may occur at birth or shortly after
What is OI Congenital (OIC)?
Most sever and disabling
Numerous fx's at birth
Dwarfism
Bowing or long bone deform
blue sclerae
Poor prognosis

High mortality rate due to intracranial hemorrhage at birth or recurring resp. tract infections
What is OIT Type II?
Least disabling

Fx's not assoc. with bowing of bones

Most approach average height

Excellent prognosis for amb.
OI/OIT vs. Sillence classification system
Autosomal recessive

Numeric classification system based on:
- clinical presentaion
- radiologic criteria
- mode of inheritance

OIC and OIT have clinical usefulness - but do not reflect scope of OI from genetic or pathogenetic standpoint
What is OI pathophysiology?
Defect in collagen synthesis results from abnormality in processing pro collagen to type 1 collagen

Collagen fibers fail to mature
What vicious cycle occurs with fracture in OI? what about internal fixation for fx?
More susceptible to Re-fracture

Limb deformities from bowing of long bones also possible

Internal fixation is the MOST successful means of fx stabilization
- prevents additional fx
Is PROM used in infants with OI?
NO!!!

Passive stretching is contraindicated in most cases
What handling recommendations are given for infant with OI?
Important that forces not be put across long bones

Positions that safely challenge head control
What dressing recommendations for infants with OI?
Use loose clothing
What are diapering recommendations for infants with OI?
Never be lifted by ankles for changing diaper

Need more stabilization and support during a change
What are bathing recommendations for OI?
Done in a padded, preferable plastic basin
what happens if child w/OI walks without adequate support?
Further bending of long bones due to abnormal stress on weak structure

Lack of normal WBing stress due to not walking -- leads to honeycomb pattern of osteoporosis in long bones
What active exercise are recommended for preschool years for child with OI?
Increase mm strength
- hip extensors and abductors

Straddle a roll and come to stand with PT support at pelvis - increase WBing

Gym activities;
- scooter board
- riding tricycles
- playground games
- overhead reaching
- basketball and racket sports

Aquatic exercise is great!
What type of strengthening and endurance programs recommended in school-age and adolescents with OI?
Core strengthening and ability to sit-scoot is key for non ambulatory population

Trunk strength for transfer assist and self-care

PRE using weight, aquatic activity, adaptive sports, computer-assisted physical activity

Adaptive sports
- swimming, challenger baseball, cycling, boating, etc
Typical age of diagnosis of Muscular dystrophy (DMD)?
around 5 years of age

symptoms can be seen as early as 2.5 years old

Age 10 - typical loss of ambulatory ability

Longevity is variable depending on rate of disease progression
Primary impairment of DMD for 4-5 years old?
Muscle weakness - progressive

Enlarged posterior calf - fatty connective tissue

No limit to ROM

Normal lordotic standing posture is increased

Muscle atrophy

Mild scapular winging

Scoliosis before or during adolescents
What progression of disability occurs in early school age years? Gower's sign?
Clumsiness, falling, inability to keep up with peers

Waddling type gait (increased trunks sway)

Neither running/jumping attained.

Toe walking initially -- results in lordosis and forward shift of COM

contracture of posterior calf musculature

Restrictive pattern of pulmonary impairment and progressive decline in max vital capacity
What is gower's sign?
Using arms to push on the thighs to attain standing

Usually present after one or repeated trials of assuming a standing position from sitting on the floor
Why do you use a dynamometer for MD?
Use with MMT to provide reliable info on progression of muscle weakness in key mm groups

More accurate measure
Recommendations for eval for respiratory function?
Obtained through measurement of respiratory rate and chest wall excursion (using tape measure) - note childs ability to cough and clear secretions

Portable spirometer for direct measure of expiratory capacity
What is the controversy regarding exercise in children with MD?
Overexertion and immobilization are DETRIMENTAL

Graded Resistive Exercise - Reported to have a range of results from good to limited to adverse
When should exercise be prescribed for MD population?
Submaximal exercise program should be prescribed EARLY for beneficial effects --- offered to families who have a specific desire to include it
What are the key muscle groups for early exercise?
Abs
Hip extensor
Abductor
Knee extensor
Key muscles to include in an initial ROM program? Why would you include these two muscles - what deviations occurred?
Gastro-soleus
TFL

**Contractors of these two corresponds to gait deviations of toe-walking and an increased BOS
What is the pathology of SMA?
Abnormality of large anterior horn cells in SC

# of cells are reduced, progressive degeneration of remaining cells correlated with LOF
What are the impairments of SMA?
Contracture formation
Spinal deformity
Limited mobility
Osteopenia
Fractures
Hypotonia

Feeding/swallowing affected
What can cause death with SMA?
Respiratory compromise
PT intervention for SMA/
Nutritional support
Posture management
Seating
Contracture
Pain mgmt
Therapy for ADLs
What is unaffected with SMA?
Intelligence
What is the primary impairment for SMA?
Muscle weakness secondary to progressive loss of anterior horn cell in SC
What is type 1 of SMA? prognosis? occurs in infancy? impairments?
Most severe and common

Poorest prognosis

Infancy - decreased fetal mvmt in utero

Impairments:
- Hypotonia
- Symmetrical flaccid paralysis
- Respiratory. complications
- No head control
- weakness in proximal mm of neck, trunk, pelvic, and shoulder girdles
What are goals for type 1 SMA?
Maintaining function
Family education
Adaptations for play

Pt. will tolerate sidelying for 10 min to play with toy. Parents able to feed child 100% of the time.
What is Type 2 SMA - chronic childhood SMA?
Correlates with age and when they first experience symptoms

Older child - less severe and slower progression

Significant weakness within first year

Progressive Loss of strength and pulmonary function is consistently reported

Sitting posture is an area of concern

Respiratory capacity significantly reduced

Contractures
What is Type 3 SMA - Juvenile onset?
Most functional type

Ambulatory status

Respiratory infections - normal life span

Least severe - later onset

Proximal weakness -> distal

Functional impairments:
- Waddling gait - more pronounced with running
- difficulty rising from floor, climbing stairs, and keeping up with peers during play
- difficulty lifting overhead and manual labor vocational activities
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