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]
TreatmentSurgery[6]
Frequency15% (occulta), 0.1–5 per 1000 births (others)[7][8]

Spina bifida (SB; /ˌspaɪnə ˈbɪfɪdə/,[9] Latin for 'split spine')[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, a tethered spinal cord and latex allergy.[2] Some experts believe such an allergy can be caused by frequent exposure to latex, which is common for people with spina bifida who have shunts and have had many surgeries. 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. PMC 10271422. 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.