Spina bifida

Spina bifida
Illustration of a child with spina bifida
SpecialtyPediatrics, neurosurgery, rehabilitation medicine
SymptomsHairy patch, dimple, dark spot, swelling on the lower back[1]
ComplicationsPoor ability to walk, problems with bladder or bowel control, hydrocephalus, tethered spinal cord, latex allergy[2]
CausesGenetic and environmental factors[3]
Risk factorsLack of folate during pregnancy, certain antiseizure medications, obesity, poorly controlled diabetes[3][4]
Diagnostic methodAmniocentesis, medical imaging[5]
PreventionFolate supplementation[3]
Frequency15% (occulta), 0.1–5 per 1000 births (others)[7][8]

Spina bifida /ˌspaɪnə ˈbɪfɪdə/[9] (Latin for 'split spine'; SB[10]) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy.[1] There are three main types: spina bifida occulta, meningocele and myelomeningocele.[1] Meningocele and myelomeningocele may be grouped as spina bifida cystica.[11] The most common location is the lower back, but in rare cases it may be in the middle back or neck.[12]

Occulta has no or only mild signs, which may include a hairy patch, dimple, dark spot or swelling on the back at the site of the gap in the spine.[5][1] Meningocele typically causes mild problems, with a sac of fluid present at the gap in the spine.[1] Myelomeningocele, also known as open spina bifida, is the most severe form.[2] Problems associated with this form include poor ability to walk, impaired bladder or bowel control, accumulation of fluid in the brain (hydrocephalus), a tethered spinal cord and latex allergy.[2] Learning problems are relatively uncommon.[2]

Spina bifida is believed to be due to a combination of genetic and environmental factors.[3] After having one child with the condition, or if one of the parents has the condition, there is a 4% chance that the next child will also be affected.[4] Not having enough folate (vitamin B9) in the diet before and during pregnancy also plays a significant role.[3] Other risk factors include certain antiseizure medications, obesity and poorly controlled diabetes.[4] Diagnosis may occur either before or after a child is born.[5] Before birth, if a blood test or amniocentesis finds a high level of alpha-fetoprotein (AFP), there is a higher risk of spina bifida.[5] Ultrasound examination may also detect the problem. Medical imaging can confirm the diagnosis after birth.[5] Spina bifida is a type of neural tube defect related to but distinct from other types such as anencephaly and encephalocele.[13]

Most cases of spina bifida can be prevented if the mother gets enough folate before and during pregnancy.[3] Adding folic acid to flour has been found to be effective for most women.[14] Open spina bifida can be surgically closed before or after birth.[6] A shunt may be needed in those with hydrocephalus, and a tethered spinal cord may be surgically repaired.[6] Devices to help with movement such as crutches or wheelchairs may be useful.[6] Urinary catheterization may also be needed.[6]

Rates of other types of spina bifida vary significantly by country, from 0.1 to 5 per 1,000 births.[15] On average, in developed countries, including the United States, it occurs in about 0.4 per 1,000 births.[7][4][16] In India, it affects about 1.9 per 1,000 births.[17] Europeans are at higher risk compared to Africans.[18]

  1. ^ a b c d e "Spina Bifida: Condition Information". 2012-11-30. Archived from the original on 2015-05-18.
  2. ^ a b c d "Are there disorders or conditions associated with spina bifida?". 2012-11-30. Archived from the original on 18 May 2015. Retrieved 8 May 2015.
  3. ^ a b c d e f "What causes spina bifida?". 2012-11-30. Archived from the original on 18 May 2015. Retrieved 8 May 2015.
  4. ^ a b c d "How many people are affected by or at risk for spina bifida?". 2012-11-30. Archived from the original on 18 May 2015. Retrieved 8 May 2015.
  5. ^ a b c d e "How do health care providers diagnose spina bifida?". 2012-11-30. Archived from the original on 18 May 2015. Retrieved 8 May 2015.
  6. ^ a b c d e "What are the treatments for spina bifida & related conditions?". 2012-11-30. Archived from the original on 18 May 2015. Retrieved 8 May 2015.
  7. ^ a b Kondo, A; Kamihira, O; Ozawa, H (January 2009). "Neural tube defects: prevalence, etiology and prevention". International Journal of Urology. 16 (1): 49–57. doi:10.1111/j.1442-2042.2008.02163.x. PMID 19120526.
  8. ^ "Spina Bifida Fact Sheet | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. 9 May 2017. Retrieved 30 March 2018.
  9. ^ Oxford Learner's Dictionary.
  10. ^ "Spina Bifida Information Page". www.ninds.nih.gov. National Institute of Neurological Disorders and Stroke. Retrieved 16 March 2021.
  11. ^ Ferri, Fred F. (2016). Ferri's Clinical Advisor 2017: 5 Books in 1. Elsevier Health Sciences. p. 1188.e2. ISBN 9780323448383.
  12. ^ Deming, Laura (2011). Pediatric life care planning and case management (2nd ed.). Boca Raton, FL: CRC Press. p. 392. ISBN 9781439803585.
  13. ^ "Neural Tube Defects (NTDs): Overview". 2012-11-30. Archived from the original on 9 May 2015. Retrieved 8 May 2015.
  14. ^ Castillo-Lancellotti, C; Tur, JA; Uauy, R (May 2013). "Impact of folic acid fortification of flour on neural tube defects: a systematic review". Public Health Nutrition. 16 (5): 901–11. doi:10.1017/s1368980012003576. PMID 22850218.
  15. ^ M. Memet Ö̈zek (2008). Spina bifida : management and outcome. Milan: Springer. p. 58. ISBN 9788847006508.
  16. ^ Canfield, MA; Honein, MA; Yuskiv, N; Xing, J; Mai, CT; Collins, JS; Devine, O; Petrini, J; Ramadhani, TA; Hobbs, CA; Kirby, RS (November 2006). "National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999–2001". Birth Defects Research. Part A, Clinical and Molecular Teratology. 76 (11): 747–56. doi:10.1002/bdra.20294. PMID 17051527.
  17. ^ Bhide, P; Sagoo, GS; Moorthie, S; Burton, H; Kar, A (July 2013). "Systematic review of birth prevalence of neural tube defects in India". Birth Defects Research. Part A, Clinical and Molecular Teratology. 97 (7): 437–43. doi:10.1002/bdra.23153. PMID 23873811.
  18. ^ Puri, Prem (2011). Newborn surgery (3 ed.). London: Hodder Arnold. p. 811. ISBN 9781444149494.

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