Achievable NPTE-PTA

4. Pediatrics

4.2. Congenital disorders

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Congenital neuromuscular and neural tube disorders

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Definitions

Congenital disorders: Conditions that develop in an individual in utero, during birth, or shortly after birth, due to gene mutations, deoxygenation to the brain or heart, infections, or micronutrient deficiencies.

The contents of this chapter will cover common congenital disorders.

Cerebral palsy

Definitions

Cerebral palsy (CP): A group of disorders causing deficits in movement and coordination, caused by abnormal development or damage to the brain.

Damage can occur before, during, or shortly after birth, and may result from intracranial hemorrhage, lack of oxygen to the brain, abnormal brain development, or damage to the brain’s white matter.

The risk of developing CP increases with multiple births, exposure to toxic substances, maternal or infant infections, low birth weight, seizures, complicated birth or labor, jaundice, or breech birth (feet-first delivery).

Common comorbidities among individuals with cerebral palsy include intellectual disabilities, visual impairments, speech and language deficits, seizures, hearing impairments, and various orthopedic conditions.

Types of cerebral palsy

Spastic cerebral palsy (hypertonic cerebral palsy)
- Type of cerebral palsy in which the individual exhibits hypertonia, causing stiff and jerky movements
  - Spastic hemiplegia
    - Hypertonia is located on one side of the body - the ipsilateral arm and leg
    - The affected side is typically shorter and thinner, scoliosis may be present, and intellect is normal
  - Spastic diplegia
    - Hypertonia is located primarily in the lower extremities
    - Hyperreflexia can be present, along with scissoring of gait; intellect is normal
  - Spastic quadriplegia
    - Hypertonia is located throughout the entire body
    - The most severe type of spastic cerebral palsy, due to widespread damage to the entire brain
    - Individuals with this type of CP rarely walk, demonstrate difficulty speaking, and can have some intellectual difficulty
Hypotonic cerebral palsy
- Characterized by low tone and floppiness of extremities and axial skeleton
- Individuals may demonstrate poor muscle tone, excessive range of motion, increased weight gain, impaired speech due to poor oral motor control, and a wide base of support with gait
Dyskinetic cerebral palsy (athetoid cerebral palsy)
- Characterized by slow and uncontrollable writhing or jerky movements of the hands, feet, arms, and legs
- Individuals may demonstrate postural deficits, hearing problems, and breathing difficulties; intellect remains intact
Ataxic cerebral palsy
- Characterized by poor coordination, balance impairments, and impairments in depth perception
- Individuals may demonstrate a wide base of support, dysmetria, and difficulty with precision of movement
Mixed types
- Characterized by a mix of hypertonia and hypotonia with varied symptom presentation

Classifications of cerebral palsy (Gross Motor Function Classification System, GMFCS)

Level I: Walks independently without limitations. Climbs stairs without using a railing and can run and jump, although speed, balance, and coordination may be limited.
Level II: Walks independently but uses a railing for stairs. May have difficulty with long distances, uneven ground, or crowded spaces and has limited ability to run or jump.
Level III: Walks using a hand-held mobility device, such as crutches or a walker. Typically, self-propels a wheelchair for longer distances.
Level IV: Has limited self-mobility and usually relies on a wheelchair or powered mobility for most movement. May stand or take a few steps using a supportive walker.
Level V: Has severe limitations in mobility and posture, with difficulty controlling head, trunk, arm, and leg movements. Depends on others for transfers and mobility and is typically transported in a wheelchair

Illustration of the five GMFCS levels, showing increasing mobility limitations and use of assistive devices. — Gross Motor Function Classification System (GMFCS)

Physical therapy interventions for cerebral palsy

Positioning is key to promote improvements in mobility, ADL participation, gait and balance improvements, and interaction with the environment
- Symmetrical posture
- Alignment of trunk, pelvis, and extremities
- Head in midline
- Hips and knees positioned at 90 degrees while sitting
- Prescription of orthoses
- Optimizing functional motor skills
Treatment of visual-motor and perceptual disorders
- Aids to assist with visual processing, aiding in connecting the visual system to the brain
Treatment of orthopedic conditions such as
- Scoliosis
- Joint contractures
- Kyphosis
- Clubfoot
- Hip or shoulder dislocation

Medical management for cerebral palsy

Anti-seizure medication
Spasticity medication
- Botox injections for local hypertonic muscles
- Baclofen taken orally or by implantation for multiple areas of hypertonia
Surgical interventions
- Dorsal rhizotomy
  - Dorsal nerve roots are severed to aid in decreasing spasticity and improving overall function
- Z-plasty
  - Release of muscle or tendons to release contractures

Down syndrome

Definitions

Down syndrome: A condition resulting from a chromosomal abnormality on chromosome 21 - instead of the usual pair, three copies of chromosome 21 are present (trisomy 21).

Characteristics of Down syndrome

Small ears and a protruding tongue
Microcephaly with flattened occiput
Short stature
Hypotonia and hypermobility
Congenital heart defects
Speech deficits
Developmental delays
Vertebral instability at the atlanto-axial joint (C1-C2)
Intellectual disabilities

Physical therapy interventions for Down syndrome

Promote gross motor development
Increase motor control and postural awareness
Improve oral-motor development
Durable medical equipment recommendations as appropriate
Patient and family education

Special considerations with Down syndrome

Avoidance of diving, tumbling, headstands, and contact sports, due to an increased risk of hyperflexion injury from atlanto-axial instability

PTA role: Data collection and communication - not changing the plan of care - are within the PTA’s scope. If a session reveals new neurological signs (neck pain, numbness, weakness, or changes in coordination) that suggest atlanto-axial instability, or a decline in respiratory tolerance during a session with a child who has Duchenne muscular dystrophy or spinal muscular atrophy, stop the activity and report the finding to the supervising PT.

Duchenne muscular dystrophy

Definitions

Duchenne muscular dystrophy: A progressive disease process in which the protein dystrophin is not produced, causing an increased breakdown of muscle tissue over time. It most often affects boys and carries a life expectancy into the early 20s.

Common symptoms of Duchenne muscular dystrophy

Progressive muscle weakness
Pseudohypertrophic muscles appear hypertrophied, but the muscle has been replaced by fat and connective tissue in calves, deltoids, quadriceps, and tongue
Contracture
Cardiac myopathy
Gower’s sign
- The child pushes up from the floor with their hands, walking their hands up their legs to stand - this is due to weak hip and knee extensors; typically begins at ages 4-7
Waddling gait
Increased risk of falls

Progression of Duchenne muscular dystrophy

Early childhood (age 3-5): weakness, tripping, and Gower’s sign appear
Later childhood (age 9-14): loss of ambulation as gait deviations, poor endurance, and lower extremity contractures progress; use of a manual wheelchair begins
Adolescence and beyond (age 15+): increased respiratory compromise and total dependence for ADLs and mobility, with death typically occurring in early adulthood due to respiratory failure

Physical therapy interventions for Duchenne muscular dystrophy

Maintain range of motion
Assess mobility and attempt to maintain the current level of mobility
Provide durable medical equipment as appropriate
Parent and patient education

Medical management for Duchenne muscular dystrophy

Treatment of symptoms as appropriate
Use of medications such as steroids or antibiotics, as needed
Treatment of orthopedic conditions through injections or surgery

Spinal muscular atrophy (SMA)

Definitions

Spinal muscular atrophy (SMA): A group of congenital disorders in which the motor neurons within the spinal cord are dysfunctional, caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to loss of anterior horn cell motor neurons.

Common symptoms associated with SMA include muscle contractures, muscle weakness, scoliosis, difficulty with functional mobility, difficulty swallowing, and respiratory impairment. Symptoms are progressive throughout the individual’s lifespan.

Diagnosis is confirmed via physical examination, genetic testing, and electromyography (EMG) or nerve conduction studies.

Five types of SMA

Type 0 (zero)
- Presents at birth; muscle atrophy and severe muscle weakness present; leads to life-threatening respiratory compromise
Type 1 (infantile)
- Presentation within the first 6 months of life; muscle weakness specifically impacting feeding, crawling, and sitting
Type 2 (intermediate)
- Presentation between 6-18 months of life; progressive muscle weakness in the hips, legs, and trunk
Type 3 (juvenile)
- Presentation between 18 months and 18 years of age; muscle weakness in the back, legs, and feet
Type 4 (adult)
- Presentation after 18 years of age; mild symptoms that present later in life

Physical therapy interventions for SMA

Physical therapy interventions are based upon the level of impairment associated with SMA and can include progression to meet developmental milestones, improvements in range of motion, improvements in balance, improvements in posture, strengthening muscles, and initiation of energy conservation strategies.

Spina bifida

Definitions

Spina bifida: A neural tube defect resulting in vertebral and/or spinal cord malformation. The cause is multifactorial, with maternal folic acid deficiency as a major modifiable risk factor. Elevated maternal serum and amniotic alpha-fetoprotein is a screening marker of an open neural tube defect in utero - it is not the cause of the defect.

Common symptoms associated with spina bifida

Flaccid or spastic paralysis
Bladder incontinence
Musculoskeletal deformities (scoliosis, hip dysplasia, hip dislocation, clubfoot, hip/knee contracture)
Hydrocephalus, along with Type I or II Arnold-Chiari malformation

Definitions

Hydrocephalus: Increased cerebrospinal fluid in the ventricles of the brain; the fluid accumulation causes increased pressure on other brain structures.
Arnold-Chiari malformation: A structural defect in which the cerebellum pushes down into the spinal canal; often associated with hydrocephalus.

Three types of spina bifida

Spina bifida occulta
- No spinal cord involvement
- Depression or dimple in the lower back
- A small patch of dark hair
- Soft fatty deposits
- Port-wine nevi (deep red-purple macular lesions)
- Minimal disability, if any
Spina bifida meningocele
- No spinal cord involvement
- Meninges protrude through the skin
- Cerebrospinal fluid may leak
- Associated diagnoses: clubfoot, hip dysplasia, hydrocephalus
- Moderate disability
Spina bifida myelomeningocele
- Spinal cord involvement
- Protrudes through the skin
- Severe disability will result
  - Paralysis usually occurs

Physical therapy and spina bifida interventions

Joint ROM
Axial and trunk strengthening and engagement
Positioning and handling (specifically for infants)
Mobility and balance

Congenital disorders overview

Develop in utero, during birth, or shortly after
Causes: gene mutations, oxygen deprivation, infections, micronutrient deficiencies

Cerebral palsy (CP)

Movement/coordination disorders from abnormal brain development or damage
Risk factors: multiple births, toxin exposure, infections, low birth weight, seizures, complicated birth, jaundice, breech birth
Comorbidities: intellectual disability, visual/hearing impairment, speech deficits, seizures, orthopedic issues

Types of CP

Spastic (hypertonic): hemiplegia (one side), diplegia (lower extremities, scissoring gait), quadriplegia (whole body, most severe)
Hypotonic: low tone, floppy, wide-based gait, poor oral motor control
Dyskinetic (athetoid): slow writhing/jerky movements; intellect intact
Ataxic: poor coordination/balance, dysmetria, wide base of support
Mixed: combination of hyper/hypotonia

GMFCS classification

Level I: independent walking, no limitations
Level II: walks independently, needs railing for stairs
Level III: walks with hand-held device (crutches/walker)
Level IV: limited self-mobility, relies on wheelchair
Level V: severe limitations, dependent for transfers/mobility

CP interventions

Positioning: symmetrical posture, midline head, 90° hip/knee alignment, orthoses
Address visual-motor/perceptual disorders
Treat orthopedic complications (scoliosis, contractures, clubfoot, dislocations)
Medical: anti-seizure meds, Botox/baclofen for spasticity, dorsal rhizotomy, Z-plasty surgery

Down syndrome

Trisomy 21 (three copies of chromosome 21)
Features: small ears, protruding tongue, microcephaly, short stature, hypotonia/hypermobility, heart defects, developmental/speech delays, intellectual disability
Key risk: atlanto-axial instability (C1-C2) — avoid diving, tumbling, headstands, contact sports
PT focus: gross motor development, postural control, oral-motor skills, DME, family education
PTA role: report new neuro signs (neck pain, numbness, weakness) — don’t alter POC

Duchenne muscular dystrophy

X-linked, dystrophin protein absent, progressive muscle breakdown; mainly affects boys; life expectancy early 20s
Signs: pseudohypertrophic calves/deltoids/quads, Gower’s sign (ages 4-7), waddling gait, cardiac myopathy, falls
Progression: early childhood weakness → loss of ambulation (9-14) → respiratory failure/death in adulthood (15+)
PT: maintain ROM/mobility, DME, family education
Medical: steroids, antibiotics, orthopedic surgery/injections

Spinal muscular atrophy (SMA)

SMN1 gene mutation → anterior horn cell motor neuron loss
Symptoms: contractures, weakness, scoliosis, swallowing/respiratory difficulty (progressive)
Diagnosis: physical exam, genetic testing, EMG/nerve conduction studies
Types: 0 (birth, severe), 1 (infantile, <6mo), 2 (intermediate, 6-18mo), 3 (juvenile, 18mo-18yr), 4 (adult, mild)
PT: developmental milestones, ROM, balance, posture, strengthening, energy conservation

Spina bifida

Neural tube defect; maternal folic acid deficiency = major modifiable risk factor
Elevated maternal serum/amniotic alpha-fetoprotein = screening marker (not cause)
Symptoms: paralysis (flaccid/spastic), bladder incontinence, musculoskeletal deformities, hydrocephalus, Arnold-Chiari malformation
Types: occulta (no cord involvement, dimple/hair patch, minimal disability), meningocele (meninges protrude, moderate disability), myelomeningocele (spinal cord involvement, severe disability/paralysis)
PT: joint ROM, trunk strengthening, infant positioning/handling, mobility and balance training

Next | 4.2.2 Congenital musculoskeletal disorders

Congenital neuromuscular and neural tube disorders

Definitions

Congenital disorders: Conditions that develop in an individual in utero, during birth, or shortly after birth, due to gene mutations, deoxygenation to the brain or heart, infections, or micronutrient deficiencies.

The contents of this chapter will cover common congenital disorders.

Cerebral palsy

Definitions

Cerebral palsy (CP): A group of disorders causing deficits in movement and coordination, caused by abnormal development or damage to the brain.

Damage can occur before, during, or shortly after birth, and may result from intracranial hemorrhage, lack of oxygen to the brain, abnormal brain development, or damage to the brain’s white matter.