Spina Bifida Explanation

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Spina Bifida is a situation that results from poor improvement or closing of the neural tube of the spinal cord in child, resulting to a vary of birth defects. The term borrows from Latin phrases ‘Spina’ and ‘bifida’ which mean ‘the spine’ and ‘split’ or ‘open’ respectively. There are three main kinds of this health condition specifically Spina Bifida Occulta, Myelomeningocele, and Meningocele, which differ with the defect severity and location. The word Occulta ability invisible and describes the mildest form of Spina bifida that is usually asymptomatic. In most cases, Spina Bifida Occulta is seen during imaging tests meant for other purposes.

Myelomeningocele, on the other hand, is the most severe type of the disease in which the birth defect usually occurs at the lower back. Meningocele is not very serious and is mainly associated with minimal to negligible nerve damage. It may however lead to minor disabilities on the patient. In this type of Spina bifida, a sac of fluid pushes through the split or opening defect on the back of the infant. The spinal cord, however, does not push in the sac as it does with Myelomeningocele (VanMeter, 2014). A study by Flores et al revealed that approximately three hundred thousand newly born babies, with reference to the available data, worldwide suffer from the Neural Tube Defect (NTD) (Flores, Velloezi, Valencia, & Sniezek, 2014). This paper will discuss the etiology, pathology, clinical presentations, diagnostic tests and treatment options of Spina bifida.

Etiology

The actual cause of Spina bifida is not known (Acton, 2012). However, the health condition is largely linked to nutritional, genetic and environmental factors (Martin & Kessler, 2015). The probability of a Spina bifida birth increases with low levels of folic acid intake by the mother before and during pregnancy. The mechanism under which folic acid reduces the chances of the disease remains uncertain. The vitamin is however known to enhance tissue formation and the development of cells. Food fortification with folic acid has been proven to reduce Spina bifida cases in the United States by seven hundred and sixty seven, which is approximately half of the total yearly cases (Grosse et al., 2016). Other risk factors that increase the chances of the Neural Tube defect include diabetes, obesity, epilepsy and the bipolar disorder valproic acid and carbamazepine treatment. Some genetic conditions such as the Down’s and the Edward’s Syndromes are also linked to some Spina bifida cases. Similarly, a family history of the disease is also associated with an elevated risk of new births with the defect. A woman who has previously had a baby with the condition has the chances of getting other children with the same illness increased from 1 in 1,500 to approximately 1 out of 25 (NHS, 2015).

Pathology

Spina bifida occurs as a result of a faulty spinal cord development of an embryo. This Congenial anomaly is experienced before the twenty eighth gestation day when the neural tube’s caudal end fails to close. A cleft in the vertebral column therefore develops, leading to an exposure of either the meninges only or both the meninges and the spinal cord (Martin & Kessler, 2015). The condition is referred to as the open spinal dysraphism when the neural tissue is exposed. Spinal Bifida occult is however mild and not accompanied by epithelial defect. One or two of the spine’s vertebrae are slightly separated and the neural tissue is therefore not seen. This type of the neural tube defect may be asymptomatic because the spinal nerves are not involved (Acton, 2012). When the meninges push through the vertebrae separation, a rare type of Spina bifida known as Meningocele results. Myelomeningocele is the most severe form of Spina bifida and occurs when the opening in the spinal canal involves several vertebrae. This leads to the protrusion of both the spinal cord and its protective membrane, forming a visible sac on the back of the baby, full of nerves and tissues (Martin & Kessler, 2015).

Symptoms

Spina bifida Occulta is usually not associated with any physical symptoms. However, sometimes a small dimple or a birthmark may be seen on the back of the baby, directly above the spine. A lump of fat collection, or a small section with an abnormal tuft of hair may be seen. On the other hand, a sac protruding on the spine is usually visible for Meningocele and Myelomeningocele types (VanMeter, 2014). Weakness of the lower limbs and sometimes paralysis may be observed, which leads to mobility problems. Deformation and dislocation of joints, fractures, and loss of shape of some bones such as the curvature of the spine may result. The patient is also likely to have an abnormal eye movement, and bladder and bowel control difficulties (NHS, 2015). Neurological problems such as hydrocephalus are also common due to the displacement of the back portion of the brain resulting from the nerves and tissue protrusion on the middle or lower back. The patient may therefore be unable to be attentive for long and have difficulties in organization, planning, problem solving, and in the performance of routine activities such as reading and lacing up of shoes. Poor feeding, irritability, vomiting and drowsiness among other clinical presentations of hydrocephalus may be experienced (NHS, 2015).

Diagnosis

The diagnosis of any form of Spina bifida can be done during pregnancy or after the birth of the child. The Occulta type of the condition is not easy to diagnose. For expectant women, prenatal tests are usually done during pregnancy for an early detection of possible birth defects. Alpha-fetoprotein (AFP) test is done to determine the amount of AFP that has moved into the blood stream of the mother from the baby. A high level of the protein transfer may be an indication of Spina Bifida in the unborn (NHS, 2015). An ultrasound imaging is also a common prenatal diagnosis technique that is capable of showing the Neural Tube defect (VanMeter, 2014).

Amniocentesis test involves the sampling of a small amount of the amniotic fluid for AFP and acetylcholinstearase level determination (Martin & Kessler, 2015). When Spina bifida is undetected until birth, a close examination of the baby may reveal the physical manifestations of the health condition such as the dimple or hairy patch on the back of the infant among other clinical presentations discussed above. Imaging techniques including a computerized tomography (CT) scan, an X-ray, or a magnetic resonance imaging (MRI) may also be used to clearly display the spine of the baby (NHS, 2015).

Treatment

The main and standard treatment for Spina bifida is surgery of the baby after birth, which may not be necessary for the Occulta type. During the operation, a neurosurgeon puts back the meninges in their correct place and closes the vertebral opening. Installation of a shunt in the brain ventricles may be done to aid in hydrocephalus control (Kjær, 2016). The surgery should be done within the first forty-eight hours of birth to prevent further nerve damage and possible infection. Continuous care on the patient is maintained especially in cases on Myelomeningocele in which a variety of complications usually occur. For instance, a tethered spinal cord may result from the initial surgery and the severity of the condition can be minimized through more surgical operations.

Physiotherapy is necessary in most cases to improve the mobility of the patient by strengthening leg muscles (NHS, 2015). Intrauterine prenatal surgery can be done to decrease the severity of Spina bifida. The need for a shunts and lower limb paralysis are minimized. However, this method of treatment poses a risk to the mother and also increases the chances of premature delivery. Sometimes, and more often, the baby with Spina bifida is in a breech position in the womb, thereby requiring a cesarean delivery (NHS, 2015).

Conclusion

Spina bifida is a condition that occurs when there is a faulty closure of the neural tube of the spinal cord, common in babies. The defect is usually classified into three; Myelomeningocele, Meningocele and Spina bifida Occulta, with Myelomeningocele as the most severe form of the illness. The main cause of Spina bifida remains unknown, although low levels of folic acid before and during a pregnancy increases the chances of the neural tube defect developing on an embryo. A number of imaging tests and amniocentesis are used in the diagnosis of the disease while surgery is the standard treatment procedure used to correct the condition. This paper has discussed the etiology, pathology, symptoms, diagnosis and the treatment of the disease.

References

Acton, Q. A. (2012). Spina Bifida: New Insights for the Healthcare Professional 2012 Edition. Georgia: Scholarly Editions.

Flores, A. L., Velloezi, C., Valencia, D., & Sniezek, J. (2014). Global Burden of Neural Tube Defects, Risk Factors, and Prevention. Indian Journal of Community Health, 26(1), 3-5.

Grosse, S. D., Berry, R. J., Tilford, J. M., Kucik, J. E., & Waitzman, N. J. (2016). Retrospective Assessment of Cost Savings From Prevention : Folic Acid Fortification and Spina Bifida in the U.S. American Journal of Preventive Medicine, 50(5), S74-S80.

Kjær, I. (2016). Etiology-Based Dental and Craniofacial Diagnostics. West Sussex: John Wiley & Sons.

Martin, S. T., & Kessler, M. (2015). Neurologic Interventions for Physical Therapy (Third ed.). Philadelphia: Elsevier.

NHS. (2015, 2 26). Spina Bifida- Causes. Retrieved from National Heath Services- UK: http://www.nhs.uk/Conditions/Spina-bifida/Pages/Causes.aspx

VanMeter, K. C. (2014). Gould's Pathophysiology for the Health Professions (Fifth ed.). Missouri: Elsevier Saunders.

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