Congenital 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.

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

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

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

• Age 3-5: weakness, tripping, Gower’s sign is present
• Age 9-11: gait deviations leading to high energy expenditure occur, unable to ascend/descend stairs; poor endurance; bracing may be required for ambulation; loss of ability to ambulate occurs
• Age 12-14: use of manual wheelchair, increased weight gain, contracture of lower extremity joints
• Age 15-17: increased respiratory compromise, total dependence for ADLs and mobility
• Young adulthood: death in early 20s due to respiratory compromise

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 gene mutations that prevent the normal survival of the motor unit.

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 electrical velocity testing.

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, secondary to elevated serum amniotic alpha-fetoprotein in utero. This elevation is due to a deficiency in folic acid.

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

Developmental dysplasia of the hip (DDH)

Definitions

Developmental dysplasia of the hip (DDH)

A congenital condition in which the hip joint develops abnormally, resulting in an acetabulum too shallow to properly fit the femoral head. The abnormal fit allows for recurrent dislocation, leading to an inability to appropriately meet developmental milestones.

Factors that contribute to the development of DDH include first pregnancy, breech birth, swaddling too tightly with the legs extended, and increased infant size. Diagnosis of DDH includes physical examination, x-ray, and ultrasound.

Common symptoms

• Leg length discrepancy (affected leg is shorter than the unaffected)
• Increased folds in the skin of the thigh/buttocks of the affected extremity
• Increased popping noted when moving the affected leg
  • Ortolani test
    • Flexion and abduction to 90 degrees produces an audible clunk or pop
  • Barlow test
    • Flexion and adduction to 90 degrees produces an audible clunk or pop

Physical therapy interventions for DDH

• Education provided to the family for the appropriate positioning of the infant to reduce hip dislocation occurrence
• Gentle range of motion activities that do cause dislocation
• Wearing of Pavlik harness
  • The Pavlik harness is a soft splint used to allow for consistent contact between the acetabulum and the femoral head
    • Positioned in abduction of legs, hip flexion, and knee flexion through a series of straps to keep the infant in this position
  • Used for infants 6 months or younger, with a goal of 24-hour wear for the first 6 weeks, progressing to nighttime-only wear for the following 6 weeks
    • The parents must learn how to care for the baby fully during the period of continuous wear
    • Change from wearing 24 hours a day to only at night is determined by an orthopedic physician via x-ray and ultrasound
    • Developmental delay may occur in an infant due to constant positioning, as mentioned above, with decreased ability to move out of position

Clubfoot (talipes equinovarus)

Definitions

Clubfoot (talipes equinovarus)

A congenital disorder in which the foot is turned down and inward due to a shortened Achilles tendon. Etiology is unknown, but it may be related to imbalanced development of the tendons and muscles of the foot during pregnancy, or to spina bifida.

Diagnosis is confirmed via physical examination and X-ray imaging.

Phases of intervention

• Phase 1: serial casting
  • Clubfoot is stretched/manipulated to improve the range of motion, and then a hard cast is set in place over the affected extremity
    • The hard cast is removed, and stretching occurs again, with a new cast put in place with the new range of motion that has been achieved
    • The goal is to wear the hard cast until normal alignment is achieved — can take 4-10 weeks to achieve normal alignment

• Phase 2: bracing
  • Once serial casting is complete (normal alignment is achieved), bracing is put in place to aid in maintaining the normal alignment of the foot
    • The timeframe for bracing can vary depending on the severity of the original clubfoot deformity

Surgical intervention may be necessary depending on the severity of the deformity and the inability to change Achilles tendon length through conservative measures.

Physical therapy interventions for clubfoot

Physical therapy is important in performing serial casting, recommending appropriate bracing options, and intervening if any developmental delays have occurred due to clubfoot and/or clubfoot interventions.

Osteogenesis imperfecta

Definitions

Osteogenesis imperfecta

A group of genetic disorders that impacts an individual’s ability to produce strong, healthy bones (decreased osteoblast activity), increasing the risk of bone fractures with minimal impact.

Symptoms of osteogenesis imperfecta

• Short stature
• Joint laxity
• Frequent fractures
• Bone deformities
• Muscle weakness
• Hearing loss
• Dental problems

There are varying degrees of severity of osteogenesis imperfecta, ranging from mild symptoms that persist throughout life to severe symptoms in which the newborn dies within weeks of birth.

Physical therapy interventions for osteogenesis imperfecta

Education is provided to parents on swaddling techniques, positioning, handling, and fall-prevention strategies as the child progresses through developmental milestones.

Arthrogryposis multiplex congenita (AMC)

Definitions

Arthrogryposis multiplex congenita (AMC)

A rare, non-progressive congenital condition characterized by multiple joint contractures found in at least two different body areas, present at birth and resulting from limited fetal movement in the womb.

The condition is not a single disease but a clinical finding that may have several underlying causes, primarily involving the neuromuscular system.

The primary cause of AMC is decreased fetal movement (fetal akinesia). Normal fetal movement is essential for joint and muscle development — when a fetus does not move adequately in utero, the joints do not develop normally, and soft tissues such as muscles and tendons can become contracted.

Clinical presentation

• Multiple joint contractures at birth (e.g., clubfoot, extended knees, flexed wrists)
• Muscle hypoplasia or replacement of muscle tissue with fibrous or fatty tissue
• Thin, atrophic limbs
• No progressive neurological decline
• Normal cognitive function in most cases

Common postural patterns

• Shoulders: internal rotation and adduction
• Elbows: extended or flexed, depending on the subtype
• Wrists: flexed and ulnarly deviated
• Hands: clenched with thumb-in-palm deformity
• Hips: abducted and externally rotated or dislocated
• Knees: hyperextended or flexed
• Feet: clubfoot (equinovarus) deformities

Medical and physical therapy management

Physical therapy interventions

• Passive range of motion (PROM): initiated early to maintain or improve joint flexibility
• Stretching: daily stretching programs to prevent worsening
• Positioning: using splints or orthoses to maintain joint alignment
• Serial casting: for correcting severe deformities gradually
• Strengthening exercises: focused on available muscle groups
• Mobility training: use of assistive devices (walkers, wheelchairs, KAFOs)
• Gait training (if lower extremities involved)

Orthotic management

• AFOs or KAFOs for ambulation
• Hand splints to improve function
• Spinal orthoses if scoliosis develops

Surgical interventions

• Tendon transfers
• Joint release
• Clubfoot correction (e.g., Ponseti method or surgical release)
• Hip or knee reconstructions in severe deformities