Congenital disorders

Congenital disorders are conditions in which an individual develops in utero, during birth, or shortly after birth. The reasons for development of congenital disorders can be 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

Cerebral palsy (CP) is a group of disorders causing deficits in movement and coordination. CP can be caused by abnormal development or damage to the brain. The timeline for damage can occur prior to birth, during birth, or shortly after birth. Damage can be from intracranial hemorrhage, lack of oxygen to the brain, abnormal development of the brain, or damage to the white matter in the brain.

The risk of development of CP increases with multiple births, exposure to toxic substances, infections by mother and/or infant, low birth weight, seizures, complicated birth/labor, jaundice, or breech birth (feet first during birth).

Common issues for those with cerebral palsy can be 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; ipsilateral arm and leg
      • Side of dysfunctions is typically shorter and thinner, scoliosis may be present, intellect is normal
    • Spastic diplegia
      • Hypertonia is located primarily in the lower extremities
      • Hyperreflexia can be present, scissoring of gait, intellect is normal
    • Spastic quadraplegia
      • Hypertonia is located throughout the entire body
      • 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, 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 wide base 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, breathing difficulties, intellect remains intact
• Ataxic cerebral palsy
  • Characterized by poor coordination, balance impairments, and impairments in depth perception
  • Individuals may demonstrate wide base of support, dysmetria, difficulty with precision of movements
• Mixed types
  • Characterized by mixed muscles of hypertonia and hypotonia with varied symptoms presentation

Classifications of cerebral palsy

• Level I: walk without restrictions; limitation in more advanced gross motor skills
• Level II: walker without assistive devices; limitations walking outdoors and in the community
• Level III: walk with assistive mobility devices; limitations walking outdoors and in the community
• Level IV: walking household with assistive device and with limitations; children are transported or using power or manual wheelchair outdoors in the community
• Level V: self-mobility is severely limited- walking likely not occurring; total assist with ADLs and wheelchair mobility

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 in 90 degrees in sitting
  • Prescription of orthoses
  • Optimizing functional motor skills
• Treatment of visual-motor and perceptual disorders
  • Aids to assist with visual processing aids to connect 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 mediation
  • 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 served to aid in decreasing spasticity and improve overall function
  • Z-plasty
    • Release of muscle or tendons to release contractures

Down syndrome

Down syndrome is the result of a chromosomal abnormality on chromosome 21. Chromosome 21 which would normally only have a pair of DNA has three strands of DNA causing Down Syndrome.

Characteristics of Down’s syndrome include:

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

Physical therapy interventions for Down’s 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’s syndrome

• Avoidance of diving, tumbling, headstands, and contact sports due increased risk for hyperflexion injuries due to atlanto-axial instability

Duchenne muscular dystrophy

Duchenne muscular dystrophy is a progressive disease process in which the protein dystrophin is not produced thus causing an increased breakdown of muscle tissue over time. Most often affects boys and has a life expectancy of early 20s.

Common symptoms of Duchenne muscular dystrophy

• Progressive muscle weakness
• Pseudohypertrophic muscles appear hypertrophied but 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 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

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Gower’s sign

https://upload.wikimedia.org/wikipedia/commons/8/8f/Gowers%27s_sign.png

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; lose ability ambulation 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 all 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 current level of mobility
• Provide durable medical equipment as appropriate
• Parent and patient education

Medical management for Duchenne muscular dystrophy

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

Spinal muscular atrophy (SMA)

Spinal muscular atrophy is a group of congenital disorders in which the motor neurons within the spinal cord demonstrate dysfunction. The motor unit dysfunction is caused by mutations in genes that do not allow for natural survival of the motor unit.

Common symptoms associated with SMA are: muscle contractures, muscle weakness, scoliosis, difficulty with functional mobility, difficulty swallowing, and impairments in respiration system. Symptoms are progressive throughout the lifespan of an individual.

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 first 6 months of life; muscles weakness specifically impacting feeding, crawling, and sitting
• Type 2 (intermediate)
  • Presentation between 6-18 months of life; progressive muscle weakness in hips, legs, and trunk
• Type 3 (Juvenile)
  • Presentation between 18 months -18 years; muscle weakness in 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 the SMA and can include progression to meet developmental milestones, improvements of range of motion, improvements of balance, improvements of posture, strengthening muscles, and initiation of energy conservation strategies.

Congenital cardiac conditions

Congenital cardiac conditions are birth defects that impact the normal development of the cardiac system. Congenital cardiac anomalies can be classified into two (2) general categories- cyanotic and acyanotic.

Cynanotic cardiac disease

Cyanotic cardiac anomalies cause impairment in which there is not a sufficient amount of oxygen within the blood pumped throughout the entire body. Babies born with cyanotic cardiac impairment that is obviously present at birth. The infant will have blue discoloration of their skin, breathlessness, chest pain, palpitations, and fainting.

A common cyanotic cardiac condition is tetralogy of fallout. Tetralogy of fallot is caused by a combination of ventricular septal defect, pulmonary stenosis, or right ventricular hypertrophy.

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Cyanotic heart defects

https://upload.wikimedia.org/wikipedia/commons/7/73/VSD_image.jpg

Acyanotic cardiac disease

Acyanotic cardiac anomalies are a group of conditions in which there lies an efficient amount of oxygen in the blood but the pumping mechanism of the heart is altered. The symptoms of acyanotic cardiac diseases may not be as present at birth but will lead to hypertension, pulmonary hypertension, and eventual heart failure.

Common acyanotic cardiac conditions are ventral septal defect and patent ductus arteriosis. These conditions may be caused by holes in various areas of the heart causing backflow or inefficient blood flow.

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Acyanotic heart condition

https://upload.wikimedia.org/wikipedia/commons/thumb/4/46/Patent_ductus_arteriosus.svg/1920px-Patent_ductus_arteriosus.svg.png

Physical therapy interventions and congenital cardiac conditions

Interventions are based on presenting symptoms. Typically, due to complex surgeries necessary to correct the congenital heart condition, the infant may present with developmental delay and require intervention to aid in meeting milestones.

Spina bifida

Spina bifida is 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 deficiency in folic acid.

Common symptoms associated with spina bifida are:

• Flaccid or spastic paralysis
• Bladder incontinence
• Musculoskeletal deformities (scoliosis, hip dysplasia, hip dislocation, club foot, hip/knee contracture)
• Hydrocephalus, alone with Type I or II Arnold Chari malformation

Definitions

Hydrocephalus

Increased in cerebrospinal fluid in the ventricle of the brain; the increased fluid accumulation in the ventricles causes increased pressure to other structures within the brain

Arnold chari malformation

Structural defect in which the cerebellum pushes down into the spinal canal; often associated with hydrocephalus

Three (3) types of spina bifida:

• Spina bifida occulta
  • No spinal cord involvements
  • 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 skin
  • Cerebrospinal fluid may leak
  • Associated diagnoses: club foot, hip dysplasia,hydrocephalus
  • Moderate disability
• Spina bidia myelmeningocele
  • Spinal cord involvement
  • Protrudes through the skin
  • Severe disability will result
    • Paralysis usually occurs

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https://www.cdc.gov/spina-bifida/about/

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 hip (DDH)

Congenital condition in which the hip joint develops abnormally resulting in the acetabulum being too shallow to properly fit the femoral head. The abnormal fit allows for consistent dislocation leading to inability to appropriately meet developmental milestones. Factors that contribute to the development of DDH are first pregnancy, breach birth, swaddling too tight with legs extended, and increased infant size. Diagnosis of developmental dysplasia of the hip is physical examination, x-ray, and ultrasound.

Common symptoms are:

• Leg length discrepancy (affected leg is shorter than unaffected)
• Increased folds in skin of thigh/buttocks of affected extremity
• Increased popping noted when moving affected leg
  • Ortalani test
    • Movement in flexion and abduction to 90 degrees causes an audible clunk or pop when attempting to perform
  • Barlow test
    • Movement in flexion and adduction to 90 degrees causes an audible clunk or pop when attempting to perform

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Physical therapy interventions and DDH

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

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Club foot

Club foot in a congenital disorder in which the foot is turned down and inward due to shortened achilles tendon. Etiology is unknown but it could be due to imbalance development of tendon muscles in foot during pregnancy or related to spina bifida. The diagnosis is confirmed via physical therapy examination and x-ray imaging.

Phases of intervention are as follows:

• Phase 1: serial casting
  • Club foot is stretched/manipulated to improve range of motion and then a hard cast is set in place over affected extremity
    • The hard cast is removed and stretching occurs again with a new cast put in place with 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

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

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

Physical therapy interventions

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

Osteogenesis imperfecta

Osteogenesis imperfect is a group of genetic disorders that impacts an individual’s ability to produce strong, healthy bones (decreased osteoblast activity). Osteogenesis imperfecta can increase the risk for 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 which range from mild symptoms that will persist throughout life to severe symptoms in which the newborn dies within weeks of birth.

Physical therapy interventions and osteogenesis imperfecta

Education is performed with parents on swaddling techniques, positioning, handling, and fall prevention techniques as progression through developmental milestones.

Arthrogryposis multiplex congenita (AMC)

Arthrogryposis multiplex congenita (AMC) is a rare, non-progressive congenital condition characterized by multiple joint contractures found in at least two different body areas. These joint deformities are present at birth and result 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), which is essential for normal joint and muscle development. When a fetus does not move adequately in utero, the joints do not develop normally and soft tissues like 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 contracture 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