Spina Bifida

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Original Editors -Ally O'Bryan & Stephanie Smith from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description

Spina Bifida in general is defined as "a neural tube defect (NTD) that results when the inferior neuropore does not close.  Developing vertebrae do not close around an incomplete neural tube, resulting in a bony defect at the distal end of the tube." 

Spina Bifida Occulta is described as a "benign closed NTD posterior vertebral defect only without a meningeal sac; location: lumbar-sacral spine; usually asymptomatic but can be associated with occult spina dyraphism; usually no associated defects."

Meningocele is described as a "closed NTD without extrusion of spinal cord elements into a meningeal sac; location: cervical, thoracic, lumbar, and/or sacral spine; motor deficits are less likelt that with myelomeningocele; structural brain anomalies and Chiari II malformation are less likely." 

Myelomeningocele is described as an "open NTD posterior vertebral defect and extrusion of spinal cord elements into a meningeal sac; location: cervical, thoracic, lumbar, and/or sacral spine, leads to paraplegia and insensitivity below the lesion and neurogenic bowel and bladder; associated defects included structural brain anamolies.

Prevalence

In the United States, spina bifida is less than 1 in 1,000 births.

According to the CDC in 2002, there were approximately 24,860 children and adolescents living with spina bifida in the United States.

The prevalence is higher among non-hispanic white children than non-hispanic black children, as well as more prevalent in females versus males.

Characteristics/Clinical Presentation

Spina Bifida Occulta presents with:

• depression or dimple in the lower back
• a small patch of dark hair
• soft fatty deposits
• port-wine nevi (deep red-purple macular lesions). 

Spina Bifida Meningocele presents with:

• Saclike cyst that protrudes outside the spine 

Spina Bifida Occulta and Meningocele usually do not present with neurological deficits; however bowel and bladder incontinence may be present depending on the level of the lesion.

Spine Bifida Myelomeningocele produces more severe impairments:

• 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 Chiari malformation
• trunk hypotonia
• delayed automatic postural reactions 

Associated Co-morbidities

• Osteopenia or Osteopeorosis: due to the decreased level of activities of many of these individuals this will ultimately cause a decrease in bone density that will put them at risk for fractures
• Obesity: due to decreased activity and sedentary lifestyle

Complications:

• Tethered Cord Syndome: the spinal cord becomes fixated and begins to stretch which can cause further neurological deterioration 
• Urinary Tract Infection: often in individuals who have bowel and bladder incontinence will experience recurrent urinary tract infections 
• Decubitis Ulcer: these occur due to the altered sensation an individual may experience from the neurological defecit 

Medications

No specific medications are prescribed for the treatment of Spina Bifida.  Depending on the location of the protruding sac, the individual may require the use of an assistive device to aid in walking- such as braces, walker, crutches, or even a wheelchair

Diagnostic Tests/Lab Tests/Lab Values

Before Birth

• Alpha-fetoprotein blood test when 16-18 weeks pregnant  
• Ultra-sound of the spine  
• Maternal amneocentesis- amniotic fluid taken during pregnancy

After Birth

• X-ray, MRI, CT scan
• Meningocele and myelomeningocele are visible on physical exam   
• Meningocele: protruding sac is transilluminated
• Myelomeningocele: no light shines through the protruding sac
  
  

Etiology/Causes

Pathology:

• Neural groove develops to form the neural tube around day 20 after conception. In normal development the upper end is supposed to close at day 25 and the lower end is supposed to close at day 27. Three opportunities could cause abnormal closure of the neural tube. If the hyaluronic acid matrix or actin microfilaments have abnormalities early on the neural tube will not close. If an overgrowth occurs over the caudal end the neural tube will not close, but this occurs later in development. The last chance occurs when the glycoproteins that typically hold the cells together during closure fail to adhere the tube together the tube will not properly close.
  

There is no exact reason known for the cause of Spina Bifida, but there are a variety of environmental and gentic factors that may be potential risk factors.

Mother’s nutrition:

• Folic acid- less than 400 µg of folic acid per day  
  
• Increase of: Vitamin A, valproic acid, solvents, lead herbicides, glycol ether, clomiphene, carbamazepine, aminopterin, alcohol

Genetic:

• 3%-8% reoccurrence rate for parents who already conceived a child affecetd with spina bifida
• Incidence rate increases 20x's if the parents already have a child affected with a neural tube defect
• In comparison to African-Americans, Caucasians more commonly have it, and Hispanics have a higher incidence rate than non-Hispanics

Environmental Factors:

• Radiation and viruses may have an impact on developing fetus
  

Systemic Involvement

Occulta and Meningocele: no neurological dysfunction typically present

Myelomeningocele: permanent neurological and musculoskeletal deficits present

• Neurological: muscle weakness, bowel and bladder problems, seizures, paralysis  
• Musculoskeletal: hip dislocation, syringomyelgia, scoliosis, foot and ankle deformities 
  

Medical Management (current best evidence)

The management of spina bifida varies depending on the degree the individual is affected with the disease.

Spina Bifida Occulta:

• There is generally no medical treatment required

Spina Bifida Meningocele:

• Surgery is often performed early after birth, but severity of defecits after surgery depends on if there is neural tissue in the sac.  Further treatment is similar to the management listed below for myelomeningocele
  

Spina Bifida Myelomeningocele:

• Generally surgery follows within the first few days of life to close the spinal cord defect. It is crucial during this time period prior to surgery to protect the nerves that are exposed in the protruding sac. It is also important to prevent infection and additional trauma to the exposed tissues. There are a few places that will perform fetal surgery, or surgery that is performed in utero in hopes to prevent for neurological loss they may undergo if they wait until birth
  
• Surgeries after the initial surgery after birth may be required to manage other problems in the feet hips or spine. The individuals with hydrocephalus will also require subsequent surgeries due to the shunt needing to be replaced
  
• Depending on the level of malformation will influence the individual’s ability to ambulate. Often times assistive devices are required to aid the individual around the community
  
• Due to the bowel and bladder problems that are often caused by the neural tube defect, a bowel and bladder program may be necessary. This may include catherterization or a strict bowel and bladder regimen to remain regular
  

WRITE MORE ON MOMS TRIAL- http://fetus.ucsfmedicalcenter.org/spina_bifida/moms_trial.asp

Physical Therapy Management (current best evidence)

Different factors can affect an individual with myelomeningocele’s ability to ambulate. The most prominent factor found between other socioeconomic and therapeutic factors was the location of the malformation. Individuals who had a higher lesion in the thoracic and upper lumbar spine were more likely to be in wheelchairs in comparison to lower lumbar and sacral malformations. Another important factor on an individual's walking ability is the use of assistive devices, whether it is a brace, crutches or a walker. In order to promote walking capacity an assistive device may be necessary

Alternative/Holistic Management (current best evidence)

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Differential Diagnosis

• Spine segmental dysgenesis: A sporadic disorder characterised by congenital acute-angle kyphosis or kyphoscoliosis that is localised to a spinal segment, usually in the thoracolumbar or upper lumbar spine.
• Caudal regression syndrome (sacral agenesis): A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine.
• Multiple Vertebral Segmentation Disorder: Autosomal recessive disorder characterised by short trunk dwarfism, multiple segmentation anomalies of the vertebral column, and costal anomalies.
• VACTERL (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-oesophageal fistula and/or oesophageal atresia, renal agenesis, and dysplasia and limb defects): A non-random association of multiple mid-line congenital anomalies including vertebral, anal, and cardiac defects; tracheo-oesophageal fistula; renal anomalies; and limb anomalies. 

Case Reports/ Case Studies

Behavioral Treatment of Ambulatory Function in a Child with Myelomeningocele: A Case Report [view in Physical Therapy Journal 1984;64:1536-1539]

Behavior Therapy in a Gait- Training Program for a Child with Myelomeningocele: A Case Report [view in Physical Therapy Journal 1981;61:1284-1287]

Resources

• Spina Bifida Association: www.spinabifidaassociation.org
  
• National Institute of Neurological Disorders and Stroke: disorders/spina_bifida/spina_bifida.htm
• Spina Bifida Resource Network: www.thesbrn.org/
• March of Dimes: www.marchofdimes.com/

Recent Related Research (from Pubmed)

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References

see adding references tutorial.