Peadiatric Developmental Disorder Flashcards
Down Syndrome Background
Cause:
the third copy of chromosome 21
Hallmark feature:
Ligament laxity:
-Transverse ligament–>atlantoaxial instability and spinal cord impingement
Sign of atlantoaxial instability:
-Neck pain, cervical ROM change
-Neuro signs:
*coordination/balance problems
*sensory change
*bladder change
*UMNL sign (spasticity, hyperreflexia, clonus)
Down Syndrome Presentation+Rx
Presentation:
* Hypotonia
* Hypermobile
*Physical growth delays
*Intellectual challenges
*Flattened facial profile with tongue too large for mouth
PT treatment:
-Bracing–>joint protection
-Promote muscle activation
Cerebral Palsy Background
-Non-progressive lesion
-before age of 2
Cause:
-prenatal, perinatal or postnatal condition –>anoxia, hemorrhage or brain damage
most common: Periventricular leukomalacia
–>hypoxia in premature baby
–> Damage to white matter
Classified by area of deficit:
*Monoplegia
*Diplegia: both lower limbs affected (upper extremities usually not as extensive as legs)
*Triplegia: three limbs affected
*Quadriplegia: all 4 limbs affected
* Hemiplegia
Types of cerebral palsy
- Spastic:
Cause: lesions to motor cortex or projections from motor cortex
Presentation:
-Spasticity
-Increase muscle tone
-Decrease ROM & contracture
-Movement: limited to synergies (primitive movement pattern)
-Trouble with start/stop movement
**walk with scissors gait pattern–>high tone adductors
- Ataxic
Cause: cerebellar damage
Presentation:
- Coordination problems.
- Abnormal rate, range, force, duration of movements.
- Difficulty with rapid movement, gait, fine motor and balance.
- Athetoid
Cause: damage to basal ganglia
Presentation:
- Uncontrolled writhing movements of extremities and peri-oral muscles.
- Fluctuating muscle tone (both hyper and hypotonia).
- Slow, twisting, wide amplitude movements.
- Lack of co-contraction of muscles leads to postural instability.
- Changing of mouth positions.
- Dystonic
Cause: damage to basal ganglia
Presentation:
* Long sustained involuntary movements and postures (whole-body movements).
* Tend to lock joints at end range.
* Mid-range control is difficult.
* Usually Full ROM
- Hypotonic:
Presentation:
- Lack of muscle tone
- weakness
CP Medical management
-Baclofen pump
-Dorsal rhizotomy
-Botox
-Serial casting
-Tendon release
-Osteotomy.
CP Physiotherapy treatment
General Rx approach
- Play activities
- Social integration
- Involve family–>make therapy enjoyable
- use equine therapy/aqua therapy
- use adaptive aid–>promote independence
Educate parents
-set reasonable goals and expectation
-support home exercise programs
-let the child perform a task!!
Improve mobility:
-Teach functional movement
-Core strengthening
-Gait aid
CP Bracing
Commonly used braces:
- Ankle foot orthoses
- Knee ankle foot orthoses
- Supra-malleolar orthoses
- Hand splints
- Spinal braces
Functions of AFO
Stance phase–>stable BOS
Swing phase–>prevent drop foot
At night–>prevent contractures
Function of spinal braces
-slow progression of spinal deformity
-delay surgery
-aid sitting balance
CP Hip subluxation
Cause:
Spasticity of adductor longus and iliopsoas
Non-ambulatory–>more at risk
**First indication: Can’t abduct >45
Treatment:
o Seating (pummel between legs)
o Adductor stretching
o Medications to manage adductor spasticity:
▪Botox
▪ Baclofen pump
o Surgery (tendon release, osteotomy
CP outcome measure
Gross Motor Function Measure (GMFM):
Change in functional movement over time
Gross Motor Function Classification System (GMFCS):
5 level classification system:
I=best, more independent, high-functioning
V=worst
Spina Bifida background
- Neural tube defect –> vertebral and/or spinal cord malformation
Types:
1. Spina bifida occulta:
- no spinal cord involved
- may be indicated by hair tuft
- Spina bifida cystica:
- visible or open lesion:
* Meningocele:
cyst includes CSF, cord intact
* Myelomeningocele: cyst includes CSF and herniated cord tissue,
cord damage
Risks:
-decreased maternal folic acid
-infection
-exposure to teratogens (alcohol)
Spina Bifida Presentation
LMNL feature:
* Flaccid paralysis
* Muscle wasting
* Muscle weakness
* Decreased/absent reflexes
* Bowel and bladder incontinence
* Decrease/absent sensation
Others:
* Hydrocephalus
* Meningitis
* Talipes equinovarus (club foot)
–>Esp: L4-5 level
Secondary features:
* Skin breakdown/ulcers due to lack of sensation
* Osteoporosis
* Delayed development if unable to explore the environment
Hydrocephalus in Spina Bifida
Definition:
- abnormal accumulation of CSF within the brain
Risk factor:
-after surgical closure of Myelomeningocele
Presentation:
- change in sleep patterns
- change in appetite and weight
- irritability
Management–> CSF shunt
S/S of a blocked shunt:
-Vomiting, fever, irritable
-head enlargement, bulging eye
life threatening–>A&E
Talipes equinovarus
Presentation:
- Mid+Forefoot: adducted+inwardly rotated
- Hindfoot: varus+plantarflexed
- Affected foot–>shorter
Cause:
-idiopathic
-associated with other conditions: Spina Bifida+Arthrogryposis
Management:
-first line: serial casting
-bracing
-surgery
Functional Outcome of Spina Bifida
T12: Mostly WC
L1:
-therapeutic ambulation with reciprocating gait orthotic (RGO)+gait aid
-WC for distance
L2/3:
- KAFO (L2) or AFO (L3) + gait aid
- WC for distance
L4:
- AFO+gait aid–>potential for community
- may need WC in adulthood
L5/S1:
- AFO+may need aids
- community ambulation
S2-4: Ambulation without aid
Duchenne muscular dystrophy feature
- Mutation of a single gene on the X chromosome–>can’t produce dystrophin protein
Dystrophin
- for structural integrity to muscle
–>muscle cells replaced by fat and connective tissue–>progressive muscle wasting
**CK level=high
**diagnosed by 5, death ard 20
