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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?
Neuromuscular syndrome present at birth
AMC is characterized by?
1. Severe joint contractures -> in 2 or more body areas
2. Muscle weakness
What is basic pathophysiological mechanism for AMC?
Multiple joint contractures - due to lack of fetal movement
mobility and self-care skills
Type 1 AMC: clinical manifestations?
1. Flexed and dislocated hips
2. Extended knees
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
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?
Flexed and ulnar dev. wrists
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?
Reduce joint contractors
- serial casting
- foot abduction braces
- 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?
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?
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?
- Very mild --> Severe
- 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
Bowing or long bone deform
High mortality rate due to intracranial hemorrhage at birth or recurring resp. tract infections
What is OIT Type II?
Fx's not assoc. with bowing of bones
Most approach average height
Excellent prognosis for amb.
OI/OIT vs. Sillence classification system
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
successful means of fx stabilization
- prevents additional fx
Is PROM used in infants with OI?
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
- 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
- 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
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?
Key muscles to include in an initial ROM program? Why would you include these two muscles - what deviations occurred?
**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?
What can cause death with SMA?
PT intervention for SMA/
Therapy for ADLs
What is unaffected with SMA?
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
Infancy - decreased fetal mvmt in utero
- 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?
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
What is Type 3 SMA - Juvenile onset?
Most functional type
Respiratory infections - normal life span
Least severe - later onset
Proximal weakness -> distal
- 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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