Background

The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients’ ambulation and education level (where available).

Methods

Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records.

Results

A total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays (n = 36, 41.86%), followed by equal numbers of Chinese and Indians (n = 24, 27.91%). The highest number of diagnoses reported was myelomeningocele type-spina bifida (n = 39, 45.35%). The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types (n = 23, 26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% (n = 32) and 1.16% (n = 1), respectively. In terms of mobility, 32.84% (n = 22/67) of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age (n = 22/61) received formal education ranging from preschool to secondary school.

Conclusion

The prevalence of spina bifida in UMMC is as according to international statistics which is in the range of 0.5–10 per 1,000 live births. Majority of the reported cases were males, Malays, full term babies, and of the myelomeningocele phenotype located at the lumbar region.

1. 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
2. Greene, N. D., & Copp, A. J. (2009). Development of the vertebrate central nervous system: Formation of the neural tube. Prenatal Diagnosis, 29(4), 303–311. https://doi.org/10.1002/pd.2206
3. Copp, A. J., & Greene, N. D. E. (2013). Neural tube defects: Disorders of neurulation and related embryonic processes. Wiley Interdisciplinary Reviews: Developmental Biology, 2(2), 213–227. https://doi.org/10.1002/wdev.71
4. Copp, A. J., Adzick, N. S., Chitty, L. S., Fletcher, J. M., Holmbeck, G. N., & Shaw, G. M. (2015). Spina bifida. Nature Reviews Disease Primers, 1, Article 15007. https://doi.org/10.1038/nrdp.2015.7
5. Dane, B., Dane, C., Aksoy, F., Cetin, A., & Yayla, M. (2007). Jarcho-Levin syndrome presenting as neural tube defect: Report of four cases and pitfalls of diagnosis. Fetal Diagnosis and Therapy, 22(6), 416–419. https://doi.org/10.1159/000106345
6. Gebbia, M., Ferrero, G. B., Pilia, G., Bassi, M. T., Aylsworth, A., Penman-Splitt, M., et al. (1997). X-linked situs abnormalities result from mutations in ZIC3. Nature Genetics, 17(3), 305–308. https://doi.org/10.1038/ng1197-305
7. Palacios, J., Gamallo, C., Garcia, M., & Rodriguez, J. I. (1993). Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anomaly. American Journal of Medical Genetics, 46(6), 641–646. https://doi.org/10.1002/ajmg.1320460608
8. Gutierrez-Angulo, M., Lazalde, B., Vasquez, A. I., Leal, C., Corral, E., & Rivera, H. (2002). del(X)(p22.1)/r(X)(p22.1q28) dynamic mosaicism in a Turner syndrome patient. Annales de Génétique, 45(1), 17–20. https://doi.org/10.1016/S0003-3995(02)01109-7
9. Mohd-Zin, S. W., Marwan, A. I., Abou Chaar, M. K., Ahmad-Annuar, A., & Abdul-Aziz, N. M. (2017). Spina bifida: Pathogenesis, mechanisms, and genes in mice and humans. Scientifica, 2017, Article 5364827. https://doi.org/10.1155/2017/5364827
10. Copp, A. J., Greene, N. D., & Murdoch, J. N. (2003). The genetic basis of mammalian neurulation. Nature Reviews Genetics, 4(10), 784–793. https://doi.org/10.1038/nrg1181
11. Sadler, T. W. (2012). Langman’s medical embryology (12th ed.). Wolters Kluwer Health/Lippincott Williams & Wilkins.
12. Botto, L. D., Moore, C. A., Khoury, M. J., & Erickson, J. D. (1999). Neural-tube defects. The New England Journal of Medicine, 341(20), 1509–1519. https://doi.org/10.1056/NEJM199911113412006
13. Jin, L., Zhang, L., Li, Z., Liu, J. M., Ye, R., & Ren, A. (2013). Placental concentrations of mercury, lead, cadmium, and arsenic and the risk of neural tube defects in a Chinese population. Reproductive Toxicology, 35, 25–31. https://doi.org/10.1016/j.reprotox.2012.10.015
14. De Marco, P., Merello, E., Calevo, M. G., Mascelli, S., Pastorino, D., Crocetti, L., et al. (2011). Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: An Italian case-control study. Child’s Nervous System, 27(7), 1073–1081. https://doi.org/10.1007/s00381-010-1372-y
15. Norman, S. M., Odibo, A. O., Longman, R. E., Roehl, K. A., Macones, G. A., & Cahill, A. G. (2012). Neural tube defects and associated low birth weight. American Journal of Perinatology, 29(6), 473–476. https://doi.org/10.1055/s-0032-1304830
16. Salbaum, J. M., & Kappen, C. (2010). Neural tube defect genes and maternal diabetes during pregnancy. Birth Defects Research Part A: Clinical and Molecular Teratology, 88(8), 601–611. https://doi.org/10.1002/bdra.20680
17. Dahlui, M., Wan, N. C., & Koon, T. S. (2012). Cost analysis of UMMC services: Estimating the unit cost for outpatient and inpatient services. BMC Health Services Research, 12(Suppl. 1), O1. https://doi.org/10.1186/1472-6963-12-S1-O1
18. Ministry of Health Malaysia. (2013). List of government hospitals. http://www.moh.gov.my/english.php/database_stores/store_view/3
19. Ho, M. K. (2016). Current population estimates, Malaysia, 2014–2016. Department of Statistics Malaysia.
20. Howards, P. P., Johnson, C. Y., Honein, M. A., Flanders, W. D., & National Birth Defects Prevention Study. (2015). Adjusting for bias due to incomplete case ascertainment in case-control studies of birth defects. American Journal of Epidemiology, 181(8), 595–607. https://doi.org/10.1093/aje/kwu323
21. Kahn, L., Mbabuike, N., Valle-Giler, E. P., Garces, J., Moore, R. C., Hilaire, H. S., et al. (2014). Fetal surgery: The Ochsner experience with in utero spina bifida repair. Ochsner Journal, 14(1), 112–118.
22. Boo, N. Y., Cheah, I. G., Thong, M. K., & Malaysian National Neonatal Registry. (2013). Neural tube defects in Malaysia: Data from the Malaysian National Neonatal Registry. Journal of Tropical Pediatrics, 59(5), 338–342. https://doi.org/10.1093/tropej/fmt026
23. Thong, M. K., Ho, J. J., & Khatijah, N. N. (2005). A population-based study of birth defects in Malaysia. Annals of Human Biology, 32(2), 180–187. https://doi.org/10.1080/03014460500075332
24. Dolk, H., Loane, M., & Garne, E. (2010). The prevalence of congenital anomalies in Europe. Advances in Experimental Medicine and Biology, 686, 349–364. https://doi.org/10.1007/978-90-481-9485-8_20
25. Lawrenson, R., Wyndaele, J. J., Vlachonikolis, I., Farmer, C., & Glickman, S. (2000). A UK general practice database study of prevalence and mortality of people with neural tube defects. Clinical Rehabilitation, 14(6), 627–630. https://doi.org/10.1191/0269215500cr371oa
26. Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R., et al. (2010). Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Research Part A: Clinical and Molecular Teratology, 88(12), 1008–1016. https://doi.org/10.1002/bdra.20735
27. Zaganjor, I., Sekkarie, A., Tsang, B. L., Williams, J., Razzaghi, H., Mulinare, J., et al. (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
28. Adzick, N. S. (2013). Fetal surgery for spina bifida: Past, present, future. Seminars in Pediatric Surgery, 22(1), 10–17. https://doi.org/10.1053/j.sempedsurg.2012.10.003
29. Mitchell, L. E. (2008). Spina bifida research resource: Study design and participant characteristics. Birth Defects Research Part A: Clinical and Molecular Teratology, 82(10), 684–691. https://doi.org/10.1002/bdra.20465
30. Trudell, A. S., & Odibo, A. O. (2014). Diagnosis of spina bifida on ultrasound: Always termination? Best Practice & Research Clinical Obstetrics & Gynaecology, 28(3), 367–377. https://doi.org/10.1016/j.bpobgyn.2013.10.006
31. Alfirevic, Z. (2005). Failure to diagnose a fetal anomaly on a routine ultrasound scan at 20 weeks. Ultrasound in Obstetrics & Gynecology, 26(7), 797–798. https://doi.org/10.1002/uog.2631
32. Rashed, H., Awaluddin, S. M., Ahmad, N. A., Supar, N. H. M., Lani, Z. M., Aziz, F., et al. (2016). Advanced maternal age and adverse pregnancy outcomes in Muar, Johor. Sains Malaysiana, 45(10), 1537–1542.
33. Kaur, J., & Singh, H. (2011). Maternal health in Malaysia: A review. WebmedCentral Public Health, 2(12), Article WMC002599. https://doi.org/10.9754/journal.wmc.2011.002599
34. De Marco, P. (2012). Advances in genetics of non syndromic neural tube defects. In D. K. L. Narasimhan (Ed.), Neural tube defects: Role of folate, prevention strategies and genetics (pp. 141–154). InTech.
35. Division of Family Health Development. (2013). Perinatal care manual (3rd ed.). Ministry of Health Malaysia.
36. Mahadevan, B., & Bhat, B. V. (2005). Neural tube defects in Pondicherry. Indian Journal of Pediatrics, 72(7), 557–559. https://doi.org/10.1007/BF02724177
37. Centers for Disease Control and Prevention. (2009). What is PedNSS/PNSS? Division of Nutrition, Physical Activity and Obesity, National Center for Chronic Disease Prevention and Health Promotion. http://www.cdc.gov/pednss/what_is/pednss_health_indicators.htm
38. Brook, F. A., Estibeiro, J. P., & Copp, A. J. (1994). Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation. Journal of Medical Genetics, 31(5), 383–387. https://doi.org/10.1136/jmg.31.5.383
39. Seller, M. J. (1987). Neural-tube defects and sex-ratios. American Journal of Medical Genetics, 26(3), 699–707. https://doi.org/10.1002/ajmg.1320260325
40. Mazumdar, M., Ibne Hasan, M. O., Hamid, R., Valeri, L., Paul, L., Selhub, J., et al. (2015). Arsenic is associated with reduced effect of folic acid in myelomeningocele prevention: A case control study in Bangladesh. Environmental Health, 14, 34. https://doi.org/10.1186/s12940-015-0020-0
41. Sokal, R., Tata, L. J., & Fleming, K. M. (2014). Sex prevalence of major congenital anomalies in the United Kingdom: A national population-based study and international comparison meta-analysis. Birth Defects Research Part A: Clinical and Molecular Teratology, 100(2), 79–91. https://doi.org/10.1002/bdra.23218
42. Ong, L. C., Lim, Y. N., & Sofiah, A. (2002). Malaysian children with spina bifida: Relationship between functional outcome and level of lesion. Singapore Medical Journal, 43(1), 12–17.
43. Khoo, T. B., Kassim, A. B., Omar, M. A., Hasnan, N., Amin, R. M., Omar, Z., et al. (2009). Prevalence and impact of physical disability on Malaysian school-aged children: A population-based survey. Disability and Rehabilitation, 31(21), 1753–1761. https://doi.org/10.1080/09638280902751964
44. Calhoun, C. L., Schottler, J., & Vogel, L. C. (2013). Recommendations for mobility in children with spinal cord injury. Topics in Spinal Cord Injury Rehabilitation, 19(2), 142–151. https://doi.org/10.1310/sci1902-142
45. de Jong, T., Chrzan, R., Klijn, A. J., & Dik, P. (2008). Treatment of the neurogenic bladder in spina bifida. Pediatric Nephrology, 23(6), 889–896. https://doi.org/10.1007/s00467-008-0780-7
46. Campbell, J. B., Moore, K. N., Voaklander, D. C., & Mix, L. W. (2004). Complications associated with clean intermittent catheterization in children with spina bifida. Journal of Urology, 171(6 Pt 1), 2420–2422. https://doi.org/10.1097/01.ju.0000125200.13430.8a
47. Fletcher, J. M., & Brei, T. J. (2010). Introduction: Spina bifida: A multidisciplinary perspective. Developmental Disabilities Research Reviews, 16(1), 1–5. https://doi.org/10.1002/ddrr.101