Abstract
Spina bifida refers to a wide range of neural tube defects (NTDs) affecting the spine and spinal cord. These defects result from the maldevelopment of the neuropore and the adjacent mesodermal and ectodermal structures during embryogenesis. Spina bifida can be classified as either open or closed type according to the presence or absence of exposed neural tissue. These are called spina bifida aperta and spina bifida occulta, respectively. Spina bifida aperta is caused by the failure of primary neurulation resulting in exposed neural tissue or meninges with or without cerebrospinal fluid leakage. It includes two main types: myelomeningocele and meningocele. Myelomeningocele is the severest form in which the spinal cord and the meninges protrude from an opening in the spine. Meningocele is a less severe form in which only the meninges and non-functional nerves protrude into a sac.
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References
Fidas A, MacDonald HL, Elton RA et al (1987) Prevalence and patterns of spina bifida occulta in 2707 normal adults. Clin Radiol 38:537–542
Boone D, Parsons D, Lachmann SM et al (1985) Spina bifida occulta: lesion or anomaly? Clin Radiol 36:159–161
Nikkila A, Rydhstrom H, Kallen B (2006) The incidence of spina bifida in Sweden 1973–2003: the effect of prenatal diagnosis. Eur J Pub Health 16:660–662
Bower C, Raymond M, Lumley J et al (1993) Trends in neural tube defects 1980–1989. Med J Aus 158:152–154
Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980–1986. EUROCAT Working Group (1991) J Epidemiol Comm Health 45:52–58
Prevalence of neural tube defectsin 16 regions of Europe, 1980–1983. The EUROCAT Working Group (1987) Int J Epidemiol 16:246–251
Frey L, Hauser WA (2003) Epidemiology of neural tube defects. Epilepsia 44:4–13
Canfield MA, Annegers JF, Brender JD et al (1996) Hispanic origin and neural tube defects in Houston/ Harris County, Texas. II. Risk factors. Am J Epidemiol 143:12–24
Elwood JH (1973) Epidemics of anencephalus and spina bifida in Ireland since 1900. Int J Epidemiol 2:171–175
Janerich DT (1973) Epidemic waves in the prevalence of anencephaly and spina bifida in New York State. Teratology 8:253–256
Rosano A, Smithells D, Cacciani L et al (1999) Time trends in neural tube defects prevalence in relation to preventive strategies: an international study. J Epidemiol Comm Health 53:630–635
Papp C, Adam Z, Toth-Pal E et al (1997) Risk of recurrence of craniospinal anomalies. J Matern Fetal Med 6:53–57
Elwood JM, Little J, Elwood JH (1992) Epidemiology and control of neural tube defects. Oxford University Press
Schwahn B, Rozen R (2001) Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences. Am J Pharmacogenomics 1:189–201
van der Put NM, Steegers-Theunissen RP, Frosst P et al (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070–1071
van der Linden IJ, Afman LA, Heil SG et al (2006) Genetic variation in genes of folate metabolism and neural-tube defect risk. Proc Nutr Soc 65:204–215
Chatkupt S, Chatkupt S, Johnson WG (1993) Waardenburg syndrome and myelomeningocele in a family. J Med Gen 30:83–84
Hol FA, Geurds MP, Chatkupt S et al (1996) PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida. J Med Gen 33:655–660
Melvin EC, George TM, Worley G et al (2000) Genetic studies in neural tube defects. NTD Collaborative Group. Pediatr Neurosurg 32:1–9
van Straaten HW, Copp AJ (2001) Curly tail: a 50-year history of the mouse spina bifida model. Anat Embryol 203:225–237
Harris MJ, Juriloff DM (2007) Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res 79:187–210
Prevention of neural tube defects: results of the Medical Research Council Vitamin Study (1991) MRC Vitamin Study Research Group. Lancet 338:131–137
Roe DA (1978) Lucy Wills (1888–1964). A biographical sketch. J Nutr 108:1379–1383
Thiersch JB (1952) Therapeutic abortions with a folic acid antagonist, 4-aminopteroylglutamic acid (4-amino PGA) administered by the oral route. Am J Obstet Gynecol 63:1298–1304
Laurence KM, James N, Miller MH et al (1981) Doubleblind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. Br Med J (Clin Res Ed) 282:1509–1511
Smithells RW, Sheppard S, Schorah CJ (1976) Vitamin deficiencies and neural tube defects. Arch Dis Child 51:944–950
Smithells RW, Nevin NC, Seller MJ et al (1983) Further experience of vitamin supplementation for prevention of neural tube defect recurrences. Lancet 1:1027–1031
Pitkin RM (2007) Folate and neural tube defects. Am J Clin Nutr 85:285S–288S
Czeizel AE, Dudas I, Fritz G et al (1992) The effect of periconceptional multivitamin-mineral supplementation on vertigo, nausea and vomiting in the first trimester of pregnancy. Arch Gynecol Obstet 251:181–185
Shaw GM, Velie EM, Schaffer D (1996) Risk of neural tube defect-affected pregnancies among obese women. JAMA 275:1093–1096
Chambers CD, Johnson KA, Dick LM et al (1998) Maternal fever and birth outcome: a prospective study. Teratology 58:251–257
McNulty H, Cuskelly GJ, Ward M (2000) Response of red blood cell folate to intervention: implications for folate recommendations for the prevention of neural tube defects. Am J Clin Nutr 71:1308S–1311S
Botto LD, Lisi A, Bower C et al (2006) Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment. Birth Defects Res 76:693–705
Bower C, Stanley FJ (2004) Case for mandatory fortification of food with folate in Australia, for the prevention of neural tube defects. Birth Defects Res 70:842–843
Lawrence M (2006) Evaluation of the implementation of the folate-neural tube defect health claim and its impact on the availability of folate-fortified food in Australia. Aust N Z J Public Health 30:363–368
Dietrich M, Brown CJ, Block G et al (2005) The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States. J Am Coll Nutr 24:266–274
De Wals P, Tairou F, Van Allen MI et al (2007) Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med 357:135–142
Spina bifidaand anencephaly before and after folic acid mandate—United States, 1995–1996 and 1999–2000 (2004) MMWR 53:362–365
Ray JG, Meier C, Vermeulen MJ et al (2002) Association of neural tube defects and folic acid food fortification in Canada. Lancet 360:2047–2048
Hertrampf E, Cortes F (2004) Folic acid fortification of wheat flour: Chile. Nutr Rev 62:S44–48; discussion S49
Bower C, de Klerk N, Hickling S et al (2006) Assessment of the potential effect of incremental increases in folic acid intake on neural tube defects in Australia and New Zealand. Aust N Z J Public Health 30:369–374
Ward M, McNulty H, Pentieva K et al (2000) Fluctuations in dietary methionine intake do not alter plasma homocysteine concentration in healthy men. J Nutr 130:2653–2657
Taylor MJ, Carney SM, Goodwin GM et al (2004) Folate for depressive disorders: systematic review and meta-analysis of randomized controlled trials. J Psychopharmacol (Oxford, England) 18:251–256
Durga J, van Boxtel MP, Schouten EG et al (2007) Effect of 3-year folic acid supplementation on cognitive function in older adults in the FACIT trial: a randomised, double blind, controlled trial. Lancet 369:208–216
FSANZ: FoodStandards Australia and New Zealand Report 23 May 2007. http://www.foodstandards.gov.au/_srcfiles/P295%20Folate%20Fortification%20FFR %20+%20Attach%201%20FINAL.pdf.
Mills JL, Von Kohorn I, Conley MR et al (2003) Low vitamin B-12 concentrations in patients without anemia: the effect of folic acid fortification of grain. Am J Clin Nutr 77:1474–1477
Flood VM, Smith WT, Webb KL et al (2006) Prevalence of low serum folate and vitamin B12 in an older Australian population. Aust N Z J Public Health 30:38–41
Van Guelpen B, Hultdin J, Johansson I et al (2006) Low folate levels may protect against colorectal cancer. Gut 55:1461–1466
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Josan, V., Morokoff, A., Maixner, W.J. (2008). Epidemiology and Aetiological Factors. In: The Spina Bifida. Springer, Milano. https://doi.org/10.1007/978-88-470-0651-5_4
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DOI: https://doi.org/10.1007/978-88-470-0651-5_4
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