4.5 - Pediatric DDx

Question 1

Top pediatric diagnoses to know:

Torticollis
CP
Down Syndrome
Spina bifida
Spinal muscular atrophy

Question 2

Torticollis

Describe this condition
How is it named?
Clinical Presentation
Risk Factors

Answer 2

Torticollis - tight or shortened SCM

L torticollis = L SCM involved

Clinical Presentation:
- Ipsilateral sidebend, contralateral rotation
- Limited AROM of contralateral SCM (“weak”)
- Tight band or nodule involved SCM
- Delayed or asymmetrical gross motor milestones

Risk Factors:
- Head position, crowding in utero
- Breech position
- Hip dysplasia
- GERD
- Cranial deformity

Question 3

Why can a cranial deformity develop w/ torticollis?

Answer 3

Flattening of skull due to always lying on that side of the head

Question 4

Describe the following infant head shapes

Plagiocephaly
Brachycephaly
Scaphocephaly

Answer 4

Plagiocephaly - “flat spot”
Brachycephaly - “short head”
Scaphocephaly - “long head”

Question 5

What do we want to make sure to rule out in an infant w/ torticollis?

Answer 5

Trochlear nerve palsy

Question 6

What is CP?

Answer 6

A group of neuromuscular disorders that are NON-progressive and develop during infancy / fetal development

Question 7

Describe the different types of CP

Which is most common?

Answer 7

Spastic - muscles are stiff & tight. Spasticity present. Arises from motor cortex damage

Ataxic - shaky, uncoordinated movements. Balance affected. Arises from cerebellum damage

Dyskinetic - involuntary movements. Arises from basal ganglia damage

Mixed types

Question 8

Describe the different classification levels of CP (based on the GMFCS)

Answer 8

Level 1:
- “Community ambulator”
- Can climb stairs w/o use of railing
- Can perform gross motor skills - running, jumping - but speed, balance, and coordination are limited

Level 2:
- “Household ambulator”
- Walk in most settings
- Climb stairs w/ railing
- Difficulty w/ longer distances & uneven terrain, inclines, crowded areas
- Minimal ability to perform gross motor skills - running, jumping

Level 3:
- “Household ambulator w/ AD; community w/ w/c”
- Mobility device in indoor settings
- W/c for long distances

Level 4:
- “Power w/c; assistance w/ transfers”
- Powered mobility in most settings
- May walk for short distances w/ physical assistance or body support walker

Level 5:
- Child transported in a manual w/c in all settings
- Limited ability to maintain antigravity head and trunk postures

Question 9

Describe common gait deviations for CP

Answer 9

• Internal femoral torsion (antetorsion) –> decreased ER ROM, increased IR ROM
• Tibial torsion (external > internal) - compensation secondary to femoral intorsion
• Pes valgus
• Croughed postured
• Abnormal PF-knee extension couple (i.e., limited ankle DF?)
• Limited swing-phase knee motion (“stiff leg”)
• Hip abd weakness (“trendelenburg gait”)
• Gastroc-soleus weakness (excessive DF, increased knee flexion)

Question 10

Trisomy 21

What is this?
Describe the clinical presentation
Potential complications
Prognosis
Gross motor skills

Answer 10

Down syndrome

Clinical Presentation:
- HYPOTONIA
- HYPERMOBILITY
- LIGAMENTOUS LAXITY - atlantoaxial instability
- Cognitive impairments
- Delayed language development
- Physical characteristics - flat nasal bridge, small mouth, big tongue

Potential complications:
- Atlantoaxial instability
- Decreased bone mineral density
- Congenital heart defects
- Obesity
- pain

Prognosis:
Majority will acquire all gross motor skills, but will be delayed (typically about double the expected timeframe)
- 0-18 months - floor mobility & sitting skills
- 18-36 mos - standing & walking
- 3-6 years - running & jumping

Question 11

Spina Bifida

Describe the pathophysiology
Describe the clinical presentation

Answer 11

Spina bifida
- Incomplete closure of the vertebral body –> allows protrusion of spinal cord, meninges, or CSF

Pathophysiology:
- Spina bifida occulta - incomplete closure w/o any protrusion; often goes unnoticed
- Spina bifid meningocele - only involves meninges & CSF
- Spina bifida myelomeningocele - CSF, meninges, & spinal cord

Clinical Presentation:
- LMN pathology
- LE paralysis
- Sensory impairments
- HYDROCEPHALUS
- Bowel & bladder impairments

MSK impairments - deformities & joint contractures
- Scoliosis
- Club foot
- Hip dislocation
- Crouch posture

Question 12

Describe the expected impairments & functional mobility with different vertebral levels of spina bifida

L1-2 or higher
L3
L4-5
Sacral

Answer 12

L1-2 or higher
Impairments:
- LE paralysis
- Unopposed hip flexion and adduction forces
- Excess anterior pelvic tilt & lumbar extension
Mobility:
- Wheelchair
- Reciprocating gait w/ HKAFO, but often cessation of ambulation by school age

L3
Impairments:
- LE paralysis
Mobility:
- Forearm crutches
- Household ambulation

L4-5
Impairments
- Poor to fair glute med strength
- No hip ext or glute max activation
- DF > PF
- Absent lateral hamstring –> internal tibial torsion
Mobility:
- Household or community ambulators
- Walker or crutches
- W/c for longer distances
- AFO

Sacral
Impairments:
- Some hip extension & lateral hamstring activation
- Gastroc weakness
- Crouched gait
Mobility:
- Community ambulation
- Solid AFO
- Uncompensated trendelenburg

GLUTE MAX is biggest predictor of community ambulation!

Question 13

SMA

What is it?
Pathophysiology
Clinical Presentation
Describe the types of SMA

Answer 13

A nerve disease that effects motor nerves of the spinal cord

Pathophysiology:
- Autosomal recessive
- Genetic mutation –> deficiency of SMN protein –> death of motor neurons in the spinal cord (anterior horn cells)
- W/o signals from brain –> muscles can’t contract –> mm weaken atrophy

Clinical Presentation:
- Classified based on age at which symptoms first occur & expected prognosis
- Sx range in severity
- Hypotonia
- Worsening mm weakness (Proximal > distal; LE > UE)
- Absent reflexes
- Swallowing & breathing difficulties

Type 1:
- Onset 0-6 months
- Prognosis: die before 2 years
- Sx: reduced muscle tone, absent reflexes, swallowing & feeding difficulty

Type 2:
- Onset 6-18 mos
- Prognosis: Life expectancy - adolescence or young adulthood
- Sx: Unable to stand / walk w/o support; respiratory difficulties; can stand w/ KAFOs

Type 3:
- Onset 18 mos or older
- Prognosis: Normal lifespan w/ regular physical rehab
- Sx: Walk independently; difficulty w/ running, stairs; scoliosis

Type 4:
- Onset in adulthood (after 21 yrs)
- Prognosis: Normal lifespan (w/ little physical training)
- Sx: mild to moderate leg weakness