Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan

Anencephaly

  • Erin D. BiglerEmail author
  • Jo Ann Petrie
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_1509

Synonyms

Amnion rupture; Brain stem; Congenital defects; Exencephaly; Forebrain; Lack of neural tube closure; Magnetic resonance imaging; MRI; Neural tube defects; NTD

Definition

Using “an” in front of an anatomical descriptor signifies absence. Cephalic is Greek for head with encephalon specifically referring to the brain. Therefore, the term anencephaly is used to denote a congenital defect in the development of the head, including the meninges, the cranium, and the scalp and, in particular, abnormal brain growth, with an almost completely diminished prosencephalon (telencephalon + diencephalon) or forebrain and only rudimentary development of the brain stem.

Categorization

Anencephaly neural tube defects (NTD) result from the failure of closure of the headend of the neural tube in early fetal/embryolic development (first 3–4 weeks); including lack of formation of the brain, skull, and scalp (Greene and Copp 2014; Puvirajesinghe and Borg 2015; Yamaguchi and Miura 2013). Loss of the...

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References and Readings

  1. Ashwal, S. (2005). Recovery of consciousness and life expectancy of children in a vegetative state. Neuropsychological Rehabilitation, 15(3–4), 190–197.PubMedCrossRefPubMedCentralGoogle Scholar
  2. Batavia, A. I. (2002). Disability versus futility in rationing health care services: Defining medical futility based on permanent unconsciousness – PVS, coma, and anencephaly. Behavioral Sciences & the Law, 20(3), 219–233.  https://doi.org/10.1002/bsl.483.CrossRefGoogle Scholar
  3. Calvo, E. B., & Biglieri, A. (2008). Impact of folic acid fortification on women’s nutritional status and on the prevalence of neural tube defects. Archives of Argentina Pediatrics, 106(6), 492–498.  https://doi.org/10.1590/S0325-00752008000600004. S0325-00752008000600004 [pii].CrossRefGoogle Scholar
  4. Calzolari, F., Gambi, B., Garani, G., & Tamisari, L. (2004). Anencephaly: MRI findings and pathogenetic theories. Pediatric Radiology, 34(12), 1012–1016.  https://doi.org/10.1007/s00247-004-1259-8.PubMedCrossRefPubMedCentralGoogle Scholar
  5. Castillo-Lancellotti, C., Tur, J. A., & Uauy, R. (2013). Impact of folic acid fortification of flour on neural tube defects: A systematic review. Public Health Nutrition, 16(5), 901–911. 10.1017/S1368980012003576.CrossRefPubMedPubMedCentralGoogle Scholar
  6. Centers for Disease Control and Prevention (CDC). (2015). Facts about anencephaly. Retrieved from http://www.cdc.gov/ncbddd/birthdefects/anencephaly.html
  7. Cohen, M. M., Jr. (2002). Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives. American Journal of Medical Genetics, 115(4), 245–268.  https://doi.org/10.1002/ajmg.10982.CrossRefPubMedPubMedCentralGoogle Scholar
  8. Cook, R. J., Erdman, J. N., Hevia, M., & Dickens, B. M. (2008). Prenatal management of anencephaly. International Journal of Obstetrics & Gynaecology, 102(3), 304–308.  https://doi.org/10.1016/j.ijgo.2008.05.002. S0020-7292(08)00210-5 [pii].CrossRefGoogle Scholar
  9. Cornel, M. C., & Erickson, J. D. (1997). Comparison of national policies on periconceptional use of folic acid to prevent spina bifida and anencephaly (SBA). Teratology, 55(2), 134–137. https://doi.org/10.1002/(SICI)1096-9926(199702)55:2<134::AID-TERA3>3.0.CO;2-3.CrossRefPubMedPubMedCentralGoogle Scholar
  10. Creasy, R. K., Resnik, R., Iams, J. D., Lockwood, C. J., Moore, T. R., & Greene, M. F. (Eds.). (2014). Creasy and Resnik’s maternal-fetal medicine: Principles and practice (7th ed.). Philidelphia: Elsevier Saunders.Google Scholar
  11. Detrait, E. R., George, T. M., Etchevers, H. C., Gilbert, J. R., Vekemans, M., & Speer, M. C. (2005). Human neural tube defects: Developmental biology, epidemiology, and genetics. Neurotoxicology and Teratology, 27(3), 515–524.  https://doi.org/10.1016/j.ntt.2004.12.007. S0892-0362(04)00156-4 [pii].CrossRefPubMedPubMedCentralGoogle Scholar
  12. Flores, A. L., Vellozzi, C., Valencia, D., & Sniezek, J. (2014). Global burden of neural tube defects, risk factors, and prevention. Indian Journal of Community Health, 26(Suppl 1), 3–5.PubMedPubMedCentralGoogle Scholar
  13. Greene, N. D., & Copp, A. J. (2014). Neural tube defects. Annual Review of Neuroscience, 37, 221–242.  https://doi.org/10.1146/annurev-neuro-062012-170354.CrossRefPubMedPubMedCentralGoogle Scholar
  14. Herrmann, W., & Obeid, R. (2011). The mandatory fortification of staple foods with folic acid: A current controversy in Germany. Deutsches Arzteblatt International, 108(15), 249–254.  https://doi.org/10.3238/arztebl.2011.0249.CrossRefPubMedPubMedCentralGoogle Scholar
  15. James, W. H. (1980). The sex ratios of anencephalics born to anencephalic-prone women. Developmental Medicine and Child Neurology, 22, 618–622.PubMedCrossRefPubMedCentralGoogle Scholar
  16. Kandel, E. R., Schwartz, J. H., Jessell, T. M., Siegelbaum, S. A., & Hudspeth, A. J. (Eds.). (2013). Principles of neural science. New York: The McGraw-Hill Companies.Google Scholar
  17. Kolb, B., & Whishaw, I. Q. (2008). Fundamentals of human neuropsychology (6th ed.). New York: Worth Publishers.Google Scholar
  18. Kondo, A., Kamihira, O., & Ozawa, H. (2009). Neural tube defects: Prevalence, etiology and prevention. International Journal of Urology, 16(1), 49–57.  https://doi.org/10.1111/j.1442-2042.2008.02163.x.CrossRefPubMedPubMedCentralGoogle Scholar
  19. Lezack, M. D., Howieson, D. B., Bigler, E. D., & Tranel, D. (2012). Neuropsychological assessment (5th ed.). New York: Oxford University Press.Google Scholar
  20. Mitchell, L. E. (2005). Epidemiology of neural tube defects. American Journal of Medical Genetics. Part C. Seminars in Medical Genetics, 135C(1), 88–94.  https://doi.org/10.1002/ajmg.c.30057.CrossRefGoogle Scholar
  21. MRC Vitamin Study Research Group. (1991). Prevention of neural tube defects: Results of the Medical Research Council vitamin study. Lancet, 338(8760), 131–137.CrossRefGoogle Scholar
  22. National Institute of Neurological Disorders and Stroke. (2015). NINDS Anencephaly Information Page. National institutes of health: Reducing the burden of neurological disease. Retrieved from http://www.ninds.nih.gov/disorders/anencephaly/anencephaly.htm
  23. National Institutes of Health (NIH): Office of Dietary Supplements. (2016). Health information: Folate, dietary supplement fact sheet: Strengthening knowledge and understanding of dietary supplements. Retrieved from https://ods.od.nih.gov/factsheets/Folate-HealthProfessional/#h2
  24. Nzila, A., Okombo, J., & Hyde, J. (2016). Malaria in the era of food fortification with folic acid. Food and Nutrition Bulletin, 1–11.  https://doi.org/10.1177/0379572116634511.PubMedCrossRefPubMedCentralGoogle Scholar
  25. Obeidi, N., Russell, N., Higgins, J. R., & O’Donoghue, K. (2010). The natural history of anencephaly. Prenatal Diagnosis, 30, 357–360.  https://doi.org/10.1002/pd.2490.CrossRefPubMedPubMedCentralGoogle Scholar
  26. Payne, S. K., & Taylor, R. M. (1997). The persistent vegetative state and anencephaly: Problematic paradigms for discussing futility and rationing. Seminars in Neurology, 17(3), 257–263.PubMedCrossRefPubMedCentralGoogle Scholar
  27. Puvirajesinghe, T. M., & Borg, J. P. (2015). Neural tube defects: From a proteomic standpoint. Metabolites, 5(1), 164–183.  https://doi.org/10.3390/metabo5010164.CrossRefPubMedPubMedCentralGoogle Scholar
  28. Rampersaud, G. C., Sokolow, A., Gruspe, A., Colee, J. C., & Kauwell, G. P. (2016). Folate/folic acid knowledge, intake, and self-efficacy of college-age women: Impact of text messaging and availability of a folic acid-containing supplement. Journal of American College Health.  https://doi.org/10.1080/07448481.2016.1179196.PubMedCrossRefPubMedCentralGoogle Scholar
  29. Sharif, A., & Zhou, Y. (2016). Fetal MRI characteristics of exencephaly: A case report and literature review. Case Reports in Radiology, 2016, 9801267.  https://doi.org/10.1155/2016/9801267.CrossRefPubMedPubMedCentralGoogle Scholar
  30. Strickland, K. C., Krupenko, N. I., & Krupenko, S. A. (2013). Molecular mechanisms underlying the potentially adverse effects of folate. Clinical Chemistry and Laboratory Medicine, 51(3), 607–616.  https://doi.org/10.1515/cclm-2012-0561.CrossRefPubMedPubMedCentralGoogle Scholar
  31. Wang, H., De Steur, H., Chen, G., Zhang, X., Pei, L., Gellynck, X., & Zheng, X. (2016). Effectiveness of folic acid fortified flour for prevention of neural tubed in a high risk region. Nutrients, 8(3).  https://doi.org/10.3390/nu8030152.PubMedPubMedCentralCrossRefGoogle Scholar
  32. Wolff, T., Witkop, C. T., Miller, T., & Syed, S. B. (2009). Folic acid supplementation for the prevention of neural tube defects: An update of the evidence for the U.S. preventive services task force. Annals of Internal Medicine, 150(9), 632–639. https://doi.org/150/9/632 [pii].Google Scholar
  33. Yamaguchi, Y., & Miura, M. (2013). How to form and close the brain: Insight into the mechanism of cranial neural tube closure in mammals. Cellular and Molecular Life Sciences, 70(17), 3171–3186.  https://doi.org/10.1007/s00018-012-1227-7.CrossRefPubMedPubMedCentralGoogle Scholar
  34. Yila, T. A., Araki, A., Sasaki, S., Miyashita, C., Itoh, K., Ikeno, T., et al. (2016). Predictors of folate status among pregnant Japanese women: The Hokkaido study on environment and Children’s health, 2002–2012. British Journal of Nutrition, 1–9.  https://doi.org/10.1017/S0007114516001628.PubMedCrossRefPubMedCentralGoogle Scholar
  35. Zaganjor, I., Sekkarie, A., Tsang, B. L., Williams, J., Razzaghi, H., Mulinare, J., ⋯ & Rosenthal, J. (2016). Describing the prevalence of neural tube defects worldwide: A systematic literature review. PloS One, 11(4), e0151586.  https://doi.org/10.1371/journal.pone.0151586.PubMedPubMedCentralCrossRefGoogle Scholar
  36. Zhang, R., Wu, K., Zhan, C., Liu, X., & Gong, Z. (2016). Folic acid supplementation reduces the mutagenicity and genotoxicity caused by benzo(a)pyrene. Journal of Nutritional Science and Vitaminology (Tokyo), 62(1), 26–31.  https://doi.org/10.3177/jnsv.62.26.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Psychology and the Neuroscience CenterBrigham Young UniversityProvoUSA