Spina Bifida
Original Editors -Ally O'Bryan & Stephanie Smith from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
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."[1]
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." [2]
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." [2]
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.[2]
Prevalence[edit | edit source]
In the United States, spina bifida is less than 1 in 1,000 births. [2]
According to the CDC in 2002, there were approximately 24,860 children and adolescents living with spina bifida in the United States. [3]
The prevalence is higher among non-hispanic white children than non-hispanic black children, as well as more prevalent in females versus males. [3]
Characteristics/Clinical Presentation[edit | edit source]
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).[4]
Spina Bifida Meningocele presents with:
- Saclike cyst that protrudes outside the spine [4]
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:
It is accompanied by:
- 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[4]
Associated Co-morbidities[edit | edit source]
Medications[edit | edit source]
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 [5]
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
Before Birth
- Alpha-fetoprotein blood test when 16-18 weeks pregnant [5] [6]
- Ultra-sound of the spine [5] [6]
- Maternal amneocentesis- amniotic fluid taken during pregnancy
After Birth
- X-ray, MRI, CT scan [6]
- Meningocele and myelomeningocele are visible on physical exam [5] [7]
- Meningocele: protruding sac is transilluminated
- Myelomeningocele: no light shines through the protruding sac
Etiology/Causes[edit | edit source]
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. [7]
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. [8] [6]
Mother’s nutrition:
- Folic acid- less than 400 µg of folic acid per day [5] [9] [10]
- Increase of: Vitamin A, valproic acid, solvents, lead herbicides, glycol ether, clomiphene, carbamazepine, aminopterin, alcohol [7]
Genetic:
- 3%-8% reoccurrence rate for parents who already conceived a child affecetd with spina bifida [7]
- Incidence rate increases 20x's if the parents already have a child affected with a neural tube defect [10]
- In comparison to African-Americans, Caucasians more commonly have it, and Hispanics have a higher incidence rate than non-Hispanics [10]
Environmental Factors:
- Radiation and viruses may have an impact on developing fetus [6]
Systemic Involvement[edit | edit source]
Occulta and Meningocele: no neurological dysfunction typically present [7]
Myelomeningocele: permanent neurological and musculoskeletal deficits present [7]
- Neurological: muscle weakness, bowel and bladder problems, seizures, paralysis [5] [8]
- Musculoskeletal: hip dislocation, syringomyelgia, scoliosis, foot and ankle deformities [6]
Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
[edit | edit source]
- 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)[edit | edit source]
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References[edit | edit source]
see adding references tutorial.
- ↑ Cite error: Invalid
<ref>tag; no text was provided for refs namedneuro - ↑ 2.0 2.1 2.2 2.3 Burke R, Liptak Gregory. Providing a Primary Care Medical Home for Children and Youth with Spina Bifida. American Academy of Pediatrics. 2011; 128:1645-1657
- ↑ 3.0 3.1 Shin M, Besser LM, Siffel C, Kucik JE, Shaw GM, Lu C, Correa A, and the Congenital Anamoly Multistate Prevalence and Collaborative. Prevalence of Spina Bifida Among Children and Adolescents in 10 Regions in the United States. Pediatrics. 2010
- ↑ 4.0 4.1 4.2 Cite error: Invalid
<ref>tag; no text was provided for refs namedpath - ↑ 5.0 5.1 5.2 5.3 5.4 5.5 KidsHealth from Nemours. Spina Bifida. http://kidshealth.org/parent/system/ill/spina_bifida.html (accessed 30 March 2012).
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 PubMed Health. Myelomeningocele. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002525/ (accessed 30 March 2012).
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 Goodman C, Fuller K. Pathology: Implications for Physical Therapy. 3rd edition. St. Louis: Saunders,2009
- ↑ 8.0 8.1 Mayo Clinic. Spina Bifida. http://www.mayoclinic.com/health/spina-bifida/DS00417 (accessed 31 March 2012).
- ↑ Lundy-Ekman L. Neuroscience: Fundamentals for Rehabilitation. 3rd edition. St. Louis: Saunders, 2007.
- ↑ 10.0 10.1 10.2 Spina Bifida Association. Spina Bifida. http://www.spinabifidaassociation.org/site/c.liKWL7PLLrF/b.2642323/k.8E10/Spina_Bifida.htm (accessed 30 March 2012).
