Cerebral Palsy (CP)

Cerebral Palsy (CP)

• CP encompasses permanent movement and posture disorders that limit activity.
• Disturbances in the developing fetal or infant brain cause CP.
• CP can affect sensation, perception, communication, cognition, and behavior.
• CP is the most common permanent physical disability in childhood
• 41% of children with CP develop epilepsy.

Etiology of CP

• Etiology includes intrauterine hypoxia or asphyxia.
• Preexisting prenatal brain abnormalities like genetic factors, clotting disorders, or malformation is an etiology.
• Intrapartum asphyxia is an etiology.
• Maternal exposure or trauma serve as etiologies.
• Preterm or postterm birth (after 42 weeks) can be etiologies.
• No identifiable cause is found in 80% of cases.
• Post-birth trauma, including falls, MVA, or infection (meningitis), can cause CP.

Diagnosis of CP

• Diagnosis includes careful assessment in early infancy, especially for those with known risk factors.
• Diagnosis includes the use of assessment tools in the first 2 years of life.
• Neurologic examination is part of diagnosis.
• Neuroimaging (CT & MRI) is part of diagnosis.
• Metabolic and genetic testing is part of diagnosis
• Early signs of CP include delayed development and persistent primitive reflexes
  • Tonic Neck Reflex (“Fencing Reflex")
  • Moro reflex (startle reflex)
  • These reflexes are usually gone by 4 months

Early signs of CP continued

• Poor head control after age 3 months
• Stiff or rigid limbs
• Arching back; pushing away
• Floppy tone
• Unable to sit without support at age 8 months
• Clenched fists after age 3 months
• Excessive irritability
• No smiling by age 3 months
• Feeding difficulties such as:
  • Persistent tongue thrusting
  • Frequent gagging or choking with feedings due to lack of muscle coordination to chew and swallow

Interventions for CP

• Interventions include surgical options.
• Braces and supportive devices provide intervention.
• Medications (intermittent or via pump) are used for intervention
• Antispasmodics like Botox reduce spasticity but can cause pain or weakness at the injection site.
• Analgesia is part of interventions.
• Antiepileptics are used for intervention:
  • Phenytoin can cause gum hyperplasia
  • Regular dental visits and hygiene are important
  • Avoid sugary drinks

CP management

• CP requires family education and support.
• School and social supports are important.
• CP requires dental care and physical therapy.
• Children with CP will require well-child care:
  • Management of Bowel and urinary issues
  • Management of airway; risk of aspiration if airway cannot be cleared (provide suctioning)
  • Ensuring immunizations against preventable infections
  • Higher risk for skin integrity issues
  • Finding alternative ways to communicate
  • Frequent rest periods
  • Possible NG tube feedings
  • Safety precautions, like helmets

Neural Tube Defects (NTDs)

• NTDs involve the failed closure of the neural tube, either along the entire length or a portion of it.
• Incidence affects more girls than boys.
• NTDs occur three times more often in Caucasians and Hispanics than in African Americans.
• NTDs are one of the most common birth defects in the United States.

Prenatal Management of NTDs

• Management includes treatment and prevention through supplementation with folic acid (0.4 mg/day):
  • All women of child-bearing age who may get pregnant should be taking folic acid.
  • Women with a family history should take 10x the dose (4 mg/day).
• In 1998, the FDA fortified cereal grains with folic acid.
• Begin preconception.
• Antenatal assessment

Antenatal Diagnosis of NTDs

• Antenatal diagnosis involves testing:
  • Elevated alpha-fetoprotein (AFP) in amniotic fluid
  • Uterine ultrasound
  • Genetic counseling
• We test to know if we want to terminate pregnancy between 22-24 weeks
  • Also to know if a C section is needed to prevents sac from bursting

Types of NTDs

• Anencephaly
• Spina bifida Occulta
• Myelomeningocele

Anencephaly

• Anencephaly involves the absence of cerebral hemispheres.
• Brainstem function may be intact in anencephaly.
• Anencephaly is incompatible with life:
  • Few hours to a few days of life
  • Death occurs from respiratory failure
• A child with anencephaly might be blind, deaf but conscious.

Spina Bifida

• Spina Bifida is a failure of the osseous spine to close.
• Two types of Spina Bifida:
  • Spina bifida occulta
    • Not visible externally
  • Spina bifida cystica
    • Visible defect
    • Saclike protrusion
• Spina Bifida Occulta typically occurs in lumbosacral region L5 to S1

Manifestations of Spina Bifida Occulta

• Skin indicators (absent, singly, or in combination):
  • Sacral dimple
  • Sacral angioma or port wine nevus
  • Sacral tufts of dark hair
  • Sacral lipoma
• Tethered cord is a type of spina Bifida
  • Abnormal adhesion to a bony or fixed structure which puts traction on the cord
  • May not be obvious in early infancy
  • Can cause altered gait
  • Can cause Bowel and bladder problems
  • Can cause Foot deformities

Spina Bifida Cystica

• Visible defect with external saclike protrusion
• Two types:
  • Meningocele
    • Sac contains meninges and spinal fluid but no neural elements
    • No neurologic deficits
  • Myelomeningocele
    • Neural tube fails to close, maybe be a long the spinal column
    • Lumbar and lumbosacral areas are the most common
    • May be diagnosed prentally or at birth
    • Sac contains meninges, spinal fluid, and nerves
    • Varying and serious degrees of neurologic deficit
    • Myelomeningocele is interchangeable with the term spina bifida
    • May be a fine membrane
    • Prone to leakage of cerebrospinal fluid (CSF); easily ruptured
    • May be covered with dura, meninges, or skin

Initial Management of Myelomeningocele

• Requires a multidisciplinary team approach and intensive nursing care.
• Prevent sac from breaking!
• Keep sac covered: -Use saline-soaked dressing to cover it to prevent drying. - Wet/change dressing every couple of hours.
• Keep child on a prone position

Management of Myelomeningocele continued

• Don't put blankets on the child, but put them under warmer.
• Monitor for urinary incontinence
• Monitor for issues with bowel incontinence and may need cath at home.
• Prevent infection
• Assess neurologic and associated anomalies like DDH, clubfoot, genitourinary deformity
• Early closure in 12 to 72 hours after birth to prevent stretching of other nerve roots and further damage
• Promote family bonding

Ongoing Management and Issues

• Postoperative care and follow-up
• Orthopedic considerations
• Genitourinary function
• Bowel function and control
• Family support and education:
  • Plan for home care routine
  • Prevent complications
  • Assess for latex allergy due to a high risk
  • Spina bifida patients are at high risk for latex allergy due repeated exposure to latex products from multiple surgeries and repeated urinary catheterizations

Goals Related to Latex Allergy

• Reduce exposure to latex for spina bifida patients who are at risk of developing the allergy
• Remain alert for development of the allergy -Create a latex-safe environment for allergic individuals

Muscular Dystrophies

• Largest group of muscular diseases in children
• All have a genetic origin with gradual degeneration of the muscle fibers, progressive weakness and wasting of the skeletal muscles
• All have increasing disability and deformity with loss of strength

Duchenne Muscular Dystrophy (DMD)

• DMD is also known as pseudohypertrophic muscular dystrophy
• Most severe and most common of the muscular dystrophies in childhood
• X-linked inheritance pattern; one third (30%) are new mutations
• Positive family history in 60% of new cases
• Incidence is 1 in 3500 male births
• Appropriate developmental milestones early in life or subtle delays
• Typically Onset between age 3 and 7 years
• Progressive muscle weakness, wasting, and contractures
• Calf muscles hypertrophy in most patients
• Progressive generalized weakness in adolescence
• Death from respiratory or cardiac failure

Clinical Manifestations of DMD

• Waddling gait, frequent falls, exhibits Gower sign.
• Lordosis
• Enlarged muscles, especially in the thighs and upper arms
• Profound muscular atrophy in later stages
• Mental deficiency is common

Diagnostic Evaluation of DMD

• Prenatal testing if positive family history
• Suspected based on clinical appearance
• Blood: Polymerase chain reaction (PCR) for the dystrophin gene mutation
• Confirmation by EMG, muscle biopsy, and serum enzyme measurement
• Serum CPK and AST levels are high in the first 2 years of life, before onset of weakness

Therapeutic Management of DMD

• No effective treatment has been established
• Primary goal is to maintain function in unaffected muscles as long as possible
• Keep the child as active as possible
• Range of motion, bracing, performance of activities of daily living, surgical release of contractures as needed assist child.
• Genetic counseling for the family
• Promote mobility and independence
• Promote growth and development
• Prevent complications and isolation
• Support the child and family as the disease progresses
  • Help clarify the roles of multiple health care professionals
  • Help cope with a chronic, progressive, incapacitating disease
  • Help design a program that will afford maximal independence
  • Help deal constructively with the limitations the disease imposes on daily lives