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Free «Spina Bifida» Essay Sample

1.0 Introduction

Myelodysplasia or what is commonly referred to as spina bifida is a neurological condition, in which normal development and functioning of the back bones along the spinal cord, nerves around the spinal cord, and fluid-filled sac. Zipitis and Paschalides (2003) define it as “a developmental defect due to a failure of fusion of the neural tube around the 28th day of gestation” (p. 101). The condition makes some parts of the spinal cord and the adjacent body parts to develop out of position in the body. The problem can occur at any part along the spine. Children born with Spina bifida would not experience the problem of the condition immediately but when the bones along the spine fail to link up normally. The condition makes the skin around the spinal cord to appear different and a significantly advanced case may interfere with walking and make activities during the day difficult to carry out. This anatomical paper takes a deep analysis on spina bifida as a neurological condition with regard to causes, symptoms, diagnosis, treatment, and its prevention and management initiatives.      

2.0 Background Information

Spina bifida cases are mostly prevalent in Europe compared to Asian and African countries. It mainly affects females and is recurrent among infants. The condition used to be more prevalent in the 1960s than the cases are today. The percentage reduction has moved from a massive 80% in the 1960s to the current 0.62% for every 1000 individuals (Zipitis and Paschalides 2003). On the other hand, Meuli et al. (1995) note that out of every 2000 children one has spina bifida across the world. The reduction of more than 20% of the cases today has been possible due to the aggressive prenatal and discerning termination of pregnancy. In recent times, a number of researches have been dedicated to the effectiveness of folic acid use in the management of neural tube defects, (NTDs). Despite the low number of cases of spina bifida, there is still a reason to address the problem affecting faced by children with the condition and as such, the affected group and their care giver should be made to understand the problem more comprehensively. Zipitis and Paschalides (2003) note the acceptance of the condition for care givers as “caring for a child with spins bifida is associated with the increased psychological morbidity for those who care” (p. 102).

Consequently, across the globe, 400,000 fetuses are in one way or another affected by NTD due to the varying types of NTDs. The second commonest form of NTD is spina bifida that according to Wingate et al. (2004), could involve shutting of the spinal cord, link to the brain, or layer protecting fetal spine. It is not normal that all the spina bifida cases will be found through α-fetoprotein, (AFP) screening and amniocentesis. Due to this deficiency in screening, it is important to use sonography in the identification of the neurological condition.   

3.0 Types of Spina Bifida

As mentioned above, spina bifida is a type of NTD, in which spine holds the dorsal vertebral fail to link up. This results in protrusion of both the spinal cord and the meninges. Lumbar or sacral or both regions are the most important widespread cases of spina bifida. The general categories of spina bifida are spina bifida cystica and spina bifida acculta. Spina bifida occulta is also referred to as a mild case of spina bifida.

Illustration of Spina bifida occulta; Source: (Wingate et al., 2004, p. 229)

Spina bifida problem can affect an individual either mildly or severely. The mild spina bifida is more widespread and does not have adverse effects that need critical medical attention. In addition, a mild case of spina bifida is difficult to detect unless a person accidentally goes for X-ray because of other reasons. On the other hand, the severe spina bifida cases are not common and are characterized by fluid licks along with the spinal cord and the fluid pushes up the skin. These symptoms are inherent in severe spina bifida and are mostly known as meningocele. The other type of severe case is known as myelomeningocele that affects the nervous system around the spine. The nerves get harmed and as a result, cause walking problem, impaired coordination, and difficulty in bladder or bowel control. 

4.0 Causes of Spina Bifida

Study by Rosa (1991) revealed that 4 children born to 1490 women who were administered with anticonvulsant agents when pregnant had spinal bifida. The table below gives a summary of the 4 cases;

4.1 Table of Infants with Spina Bifida Born to Women Taking Antiepileptic Agents during Pregnancy

Drug

No. of Spina Bifida Cases/no. of Pregnant Women on Drugs

Barbiturates

3/1058

1/1018

Phenytoin

1/469

0/444

Carbamazepine

3/107

2/99

Primidone

1/62

0/50

Valproic Acid

1/47

0/39

TOTAL

4/1490

-           

Source: Rosa (1991, p. 675)

One of the main highlights of the results above indicates that out of every 107 pregnant women who took carbamazepine, 3 children had spina bifida. Intake of phenytoin, barbiturates, and primidone has no direct relationship with cases of spina bifida but the drugs do not mystify the spontaneity in maternal exposure to carbamazepine.     

The challenge is the determination of whether drug administration and its associates with the defect either lies in the agent itself or whether it depends on the prevailing circumstances, under which the drug is being administered. This is due to the existing contrast between danger linked with susceptibility to either valproic acid or carbamazepine. According to Rosa (1991), “there was only a borderline risk of spina bifida after the exposure to in utero to antiepileptic agents other than valproic acid or carbamazepine (6 cases among 4489 exposures, relative risk 2.0; 95% confidence limits, 0.7 and 5.5)” (p. 676). Available information of child spina bifida shows that epileptic mothers and the administration of antiepileptic drugs are not concurrent with the risk of children born to mothers without medical history of epilepsy. According to REF, “Maternal genetic effects occur when a genetically mediated maternal phenotype influences the phenotype of offspring,” (p. 1222). The only exception is when that agent is the carbamazepine or valproic acid.

The analysis of available literature on group of females taking carbamazepine when pregnant is consistent with the case reports from cohort of Medicaid beneficiaries who are exposed to carbamazepine in utero are associated with spina bifida. Therefore, “Exposure to carbamezipine in utero without concurrent exposure to valprioc acid carries a 1 percent risk of spina bifida,” (Rosa 1991, p. 676).    

On the other hand, low activity of 5,10-methylene tetrahydrofolate reductase, (MTHFR) that is an important enzyme for folate-reliant homocysteine metabolism has an association with significantly high levels of plasma homocysteine levels. The enzyme leads to the reduction of 5,10-methylene tetrahydrofolate to form methyltetrahydrofolate, which according to Van der Put et al. (1996)  is “a cosubstrate for the methylation of homocysteine to methionine” (p. 692). This research is an extension to their previous work, in which they verified that 677C→T mutation in MTHFR gene has a risk exposure to spina bifida in infants. This result was concurrent with other researches as 677C→T mutation leads to reorganization of the folates. In the study, it was found out that homozygosity in 677C→T mutation leads to significant high plasma levels if compared to heterozygous persons with (17.1±11.5 µmol/1) in homozygous and (13.2±3.1 µmol/1) respectively while for a wild-type individual, the level is (13.4±3.4 µmol/1).

The table below shows the summary of results for family with spina bifida infants and the relationship between MTHFR, enzyme activity, and the levels of homocystiene. In the experiment, mean specific standard deviation (±SD) in MTHFR are in nmol CH2O mg protein, + sign shows the presence of 677C→T mutation, mean specific (±SD) values of homosteine are in µmol/1, and the -/-(62), +/-(42), and +/+ (6) were genotype numbers.

Genotype

-/-

+/-

+/+

MTHFR Activity

      Controls

      Mothers

      Fathers

      Children

 

22.2±6.2

22.8±5.4

22.2±7.0

21.5±6.6

 

15.9±4.2a

13.8±5.5a

15.3±4.5a

14.6±5.7a

 

7.5±1.9a

6.7±2.4a

5.7±2.8a

6.3±3.2a

Homocysteine

      Controls

      Mothers

      Fathers

      Children

 

11.9±3.0

12.4±2.9

14.5±3.8

13.6±3.2

 

12.6±3.6

12.9±3.2

13.7±2.1

13.1±3.8

 

18.4±10.0b

17.4±14.1b

22.7±11.1b

11.8±2.6b

Where;

a P<0.001 (Analysis of Variance); Significance difference among the 3 genotypes 

b P<0.001 (Analysis of Variance); Significance difference +/+ in relations to +/- and -/-

Source: Van der Put et al. (1996, p. 693)

Although the administration of periconceptional folate decreases the occurrence and recurrence of neural tube defect, (NTD) among infants to by about 72%, by combining the number of occurrences in mothers and spina bifida infants show that 677C→T mutation would only account for a maximum of 27.4%. This figure is with respect to the protective effect of folate. In addition, there could be other defects in genes observed in folate, and as Van der Put et al. (1996) observes, “defective genes present in the folate, vitamin B12, and/or homocystiene metabolism causes an increased risk of a SB offspring,” (p. 694).

On the other hand, research by Wilson et al. (1999) studied 122M (66A→G) polymorphism for new clone methionine synthase reductase MTRR gene. In the study, homogygous genotype in conjunction with the low levels of vitamin B12 aggravates the likelihood of giving birth to a NTD infant. This is an indication that this polymorphism is the foremost report that links cobalamin deficiency to NTDs. Consequently, Wilson et al. (1999) write that” our study also suggests that two mutant genotypes—the new polymorphism in MTRR and the previously described polymorphism in MTHFR—may confer a greater risk that either genotype alone,” (p. 322). Given the fact that there is a high frequency of MTRR and MTHFR polymorphisms in a given populace, it is important for women considering pregnancy to have a balanced and required the level of folate and cobalamin.     

5.0 Symptoms and Complications Related to Spina Bifida

5.1 Reduced mobility and physical activities; when the defect happens to be along the spine near the head a child may be paralyzed and only left with the option of using a wheelchair. When the defects appear in lower spine regions, a child may have more mobility and avoid the use of walkers, crutches, or wheelchair.

5.2 Difficulty is using the washroom; this difficulty is also referred to as incontinence. A child may develop urinary tract infections too. 

5.3 Skin appearance; the condition can make a child’s skin to develop sore spots, swell ups, and burn-like appearances on ankles, foot, and regions around the hip. These symptoms may be difficult to observe because it might be hard to feel all parts of the body. 

5.4 Allergy; children with spina bifida are allergic to natural rubber also known as latex. Due to this allergy, an affected child should not come in contact with or use rubber products. This can be achieved by letting the child put on a bracelet alerting other people of the allergy.    

Abnormal form of the brain and upper part of the spinal cord of the affected child develops hydrocephalus or in other terms, fluid on brain. Hydrocephalus has related symptoms like difficulty in swallowing that can cause choking, hoarseness, irregular breathing during sleep or withholding of breathe, inability to learn effectively, seizure disorders, and strabismus. Strabismus is also known as crossed-eyes.    

6.0 Diagnosis

6.2 Blood test

It is recommended that any pregnant woman for the first time be given blood test during the 15th – 20th week of pregnancy. This should be done to a woman who has never had a kid with open neural tube defect, (ONTD) or has no such history. The recommended test is the measure of the AFP along with other biochemical indicators available in the pregnant woman’s bloodstream. This will show if the pregnancy is susceptible to high risks of ONTD. AFT is a protein synthesized by fetus when it is crossing to the mother’s blood from the placenta. Therefore, when a fetus has ONTD, the mother’s blood will have increased the levels of AFP.   

6.2 Sonography/Prenatal Ultrasound

 
 
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This is a diagnostic technique that uses imaging at high frequencies of sound waves, which are conveyed through computer monitor system to show figures of blood vessels, body tissues and organs. Sonography uses ultrasounds to show if the internal body parts are functioning well as expected; hence, making it possible to monitor the functioning of the fetus.

6.3 Amniocentesis

This diagnostic procedure involves the insertion of a long and thin tube through a pregnant women’s abdomen until it reaches the amniotic sac. The tube is then sued to withdraw samples of the amniotic fluid that is taken for examination. The amniotic fluid is used to investigate the absence or presence of NTDs. This kind of test cannot be used in the diagnosis in mild cases of spina bifida as the method only picks small defects.    

7.0 Treatment

There is no specific cure for spina bifida, because the nerve tissue that is damaged is irreplaceable. However, treatment of spina bifida may depend on individual case and the severity of disorder. Although in children mild form of spina bifida does not require treatment but surgery may be necessary as they grow up.

7.1 Treatment of Myelomenigocele

The principal priority of treatment intervention of spina bifida is to prevent the infection from spreading through the exposed nerves and tissues. This goes a long way in protecting the exposed nerves and structures from an additional trauma.  

7.2 Treating spina bifida through Surgery

Surgery is necessary for children born with spina bifida. Carrying out early surgery in children has better results and corrects the exposure of spinal nerve.

8.0 Prevention and Management

The main objective of developing a management program for spina bifida is to prevent infection of spinal cord and avoid exposure of nerves out of the body. Management of the condition is advised by physicians based on the nature and level of severity as indicated below;

  • A child’s gestational age, state of health, and the medical history of patient 
  • The type and severity of spina bifida
  • Infants’ tolerance level to the specified medications, therapies, and medical/clinical procedures

One of the methods than can be used to reduce the chances of a child from getting spina bifida is performing cesarean delivery to a mother. This helps as the risks of damage of the spinal cord due to newborn passage through virginal delivery is prevented. Infants born with either myelomeningocele or meningocele need critical monitoring in Infant Intensive Care Unit, (IICU) to necessitate the evaluation and surgical procedures to close the defects. Surgical procedures only help in reducing the problems to manageable levels but cannot restore proper functioning of the muscles. Surgeries can only help in unique cases to repair close lesions, to treat hydrocepahalus, orthopaedic problems, and bowel and bladder complications.

Surgery applies in orthopaedic problems because the problem is characterized by back curvatures, dislocated joint at the hip, contracted muscles, and foot anomalies. These may weaken the bones and as such, make a spina bifida infant to be vulnerable to bone breakage. On the other hand, bowel and bladder problems can be corrected through the surgery to develop ability to eliminate wastes or to restore a non-functional bladder does not secrete at all.

Not all cases of spina bifida in infants can be corrected through surgery. In this regard, there are non-surgical management procedures that can help babies with spina bifida. They are:

  • Positioning helps; to assist a child in standing, sitting, or lying
  • Rehabilitation
  • Medications
  • Braces and splits; help in the prevention of deformity and in promoting support              

Severe cases of spina bifida in infants affect both the affected child and the care giver. Medical literature highlights the significant physical and psychological conditions faced by children and their care givers; hence, the need for a holistic understanding of the whole situation. This is critical because it is a pointer towards the identification of the most effective intervention plans to address and increase the support initiatives and reduced level of psychological morbidity. A potential program to effectively management procedures for children with spina bifida would be developed as suggested below;

Volunteer Organizations

1.      Spinal Bifida Association

  • Give information on a spina bifida condition
  1. SERIS Organization;
  • Visit affected families to train them on play and exercise
  • Offer grants for family vacations

Education Sector

1.      Educational Psychologists

  • Assess the needs of special education school based on the condition

2.      Teachers

  • Provide special educational needs of the affected

Health Sector

1.      Doctors

  • GP to help integrate services for an acute problem
  • Community pediatrician to ensure that all the services are provided
  • Hospital pediatrician for care during birth and general management
  • Pediatric endocrinologist to handle potential precocious puberty
  • Neurosurgeons to review back lesion and monitor VP-shunt
  • Pediatric nephrologists to check any depreciating renal function
  • Ophthalmologists and audiologists too have roles to play

2.      Nurses

  • Wound nurses to help in reviewing back lesion on a regular basis
  • School nurse to monitor situations at school e.g. for an epileptic child
  • Health visitor to monitor child’s state after living hospital till 5 years
  • Speech therapist to enhance communication of the child
  • Physiotherapist for physical exercise 

Social Service

1.      Social worker

2.      Government benefits like tax credit, allowance for the physically challenged one, and mobility allowance in means of commuting used by an affected child 

9.0 Conclusion

The problem of spina bifida affects infants from the early stage of development. From the discussion above, it has been ascertained that the condition is regional as Asian and African countries are less susceptible. With a considerable reduction of the prevalence level of spina bifida from 1960s to just below 1% currently, the condition is manageable. Folic acid has been the main component that has significantly reduced the levels. Severe cases of spina bifida cause irreversible physical disability that lowers the activeness of the affected. In addition, other effects of spina bifida can lead to mental impairment that interferes with a child’s education. These problems need resolution programs to manage. The management of spina bifida and its effect of the affected and care givers cause mental distract. Therefore, management program must involve diverse groups of people from the care centers, the government through the policy interventions, the society to manage the problem at home, and at education facilities.

Awareness on the existence of spina bifida should be improved to help people to identify even the mild cases of spina bifida that can aggravate and cause more harm. Through the constant research and exploration, there can only be a hope that the prevalence level of spina bifida will further reduce and potentially be eliminated in the human life.

   

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