Spina Bifida: Uncovering the pathophysiology, and the importance of physical activity, for the most prevalent and disabling birth defect - By Jennifer Gardner & Christine Stopka

The United States of America houses approximately 295,734,134 people on its home soil. Of this number, there are approximately more than 54 million people who claim to be disabled (7). This is a huge portion of the population, and all age groups and races are being affected. Of the rest of the population, many people are in the dark concerning individuals with disabilities. Unless someone has a close personal friend or family member who has a disability, then most people are actually anxious around anyone with a disability or disorder. As such, the dictionary says that a disability is a physical or mental impairment that interferes with, or prevents, normal achievement in a particular area (4). Areas being affected, or disrupted in this case, involve home life, school life, and social life of the individual. Disabilities range from neurological disorders, to orthopedic disorders, to psychological disorders, to learning disorders.

Specifically we are going to take a look at neurological disorders, and in particular spina bifida. Spina Bifida is the most frequently occurring permanently disabling birth defect. Spina Bifida affects approximately 40% of Americans, and occurs in one out of every thousand births. More children have spina bifida than have muscular dystrophy, multiple sclerosis, and cystic fibrosis combined (6). Although the numbers of individuals being affected by spina bifida has decreased in the past few years with the increase in medical technology and education on prevention, there is still a huge concern about the number of individuals still being diagnosed each year. We are going to take a look at what this disability is, who it affects, what are the causes, what are the implications, what can be done to prevent it, and exercise and therapy recommendations for people with spina bifida.

Spina Bifida is a neural tube defect that is associated with the infant's spine not closing properly within the first month of pregnancy. Spina Bifida is the most common in a group of birth defects called neural tube defects (NTDs). The neural tube is the embryonic structure that develops into the spinal cord and brain. The term spina bifida literally means cleft spine. It is a disorder that involves areas of incomplete brain, and spinal cord development. In several cases, the spinal cord protrudes through the back and may be covered by a thin layer of skin or a membrane. Surgery to close the open area of the infant's back is generally performed within 24 hours of the birth to prevent further infection, and to protect the existing spinal cord. It occurs during the first 28 days after conception. Here, in the embryo, there is a tiny ribbon like tissue that folds to form the spinal column (5). It is during this process that when the process does not finish completely, a person, or infant, is left with a deformity of the spinal column. In general, there are three types of spina bifida; Spina Bifida Occulta, Meningocele, and Myelomeningocele. Spina Bifida Occulta is the mildest form, and is when one or more vertebrae are malformed, and covered by a layer of skin.

It is estimated that of those having spina bifida, approximately 5% to 10% have Spina Bifida Occulta (1). Typically there seems to be no damage to the spinal cord. In fact, many only become aware that they have Spina Bifida Occulta when they get a back x-ray for an unrelated problem. However, approximately 1 in a 1000 can have related problems. With these individuals, the split in their spine may be larger, or there may be more than one vertebrae involved. Visible signs associated with this are a mole, a birth mark, or a tuft of hair in the affected area. Associated difficulties include things like foot deformity, weakness or reduced sensation in the legs, change in hand form, bladder infections, and bowel problems (3). These problems arise due to the spinal cord tethering itself to the backbone, and symptoms generally become most prevalent during adolescence when a rapid growth spurt is endured, and the nerves of the spinal column are stretched.

Magnetic resonance imaging, or MRIs, are the best way to identify clearly where and what the problem is. After identifying the affected area, people who have progressive or worsening symptoms are advised to have surgery to fix the infraction. The surgery is used to reduce the tension on the spine. Due to the fact that surgery is taking place on and around the spinal column risk is associated, but only about 2% to 5% of the time does the surgery fail. The main purpose of this surgery is to stop further deterioration of the legs and bladder function.

The second type of Spina Bifida is Meningocele. Here, the meninges, or protective fluid around the spinal column is pushed out through an opening in the vertebrae into a sac called the "meningocele." The meningocele can range in size. In this case, the spinal cord remains intact, and with surgery to remove the sac there can be little to no damage done to the nerve pathways, and normal development can take place (3). This form of Spina Bifida is the rarest form.

The most debilitating form of the disability is Myelomeningocele. This accounts for nearly 75% of all infants born with Spina Bifida. Here, an actual portion of the spinal cord, as well as its protective coverings (the meninges) seep out into the sac through the back. Sometimes it is covered with skin and sometimes it has exposed tissues or nerves (1). The term Myelomeningocele and Spina Bifida are often interchanged when referring in general to the disability, but never should be used together because they refer to two very separate problems. Myelomeningocele is the most severe form, and infants born with this are at an extremely high risk for infection until the back is closed surgically. Until the time of surgery antibiotics may or may not be effective (5). In this situation an infant born with Myelomeningocele will have some leg paralysis, as well as a lack of control of their bladder and bowel movements. However, the degree of paralysis is largely dependent upon which spinal nerves are involved. As a rule, the higher the protrusion is on the back, the higher the degree of paralysis.

Approximately 80% of Spina Bifida cysts are located on the lower back region; otherwise know as the lumbar or sacral parts of the spinal column. Myelomeningocele is often accompanied by numerous changes in the cerebrospinal fluid circulation to and from the brain. This can lead to increased pressure on an infant's brain, and lead to a serious condition called Hydrocephalus. Accompanying this, with most cases, is generally a downward displacement of the brainstem and cerebellum. When this happens, often times additional surgeries are needed in order to release this pressure, and many times a shunt is put in to control the amount of cerebrospinal fluid at any given time. In 95% of cases involving a Myelomeningocele, Hydrocephalus accompanies it. Additional complications of a Myelomeningocele include; growth failure, precocious puberty, immature psychological development, increased risk of infections from shunts and renal impairments, clubfeet, scoliosis, bladder overflow and increased susceptibility to infection from stagnation (5).

Spina Bifida is a disability that infants are born with. While numerous scientists believe that there are genetic and environmental factors that may act together to cause this neurological disorder, roughly 95% of babies born with spina bifida have parents with no family history of this disorder (5). Although it seems as though spina bifida may follow certain families, there is no particular pattern that the disease follows. Spina Bifida can occur as part of other birth defects, but when this happens inheritance patterns differ from those of just Spina Bifida. There is however a correlation in mothers who have Spina Bifida, and the probability of them having a child with Spina Bifida. Though it has not yet outwardly been associated with genetic inheritance, it has been noted that mothers who lack appropriate amounts of folic acid in their diets often have higher association to Spina Bifida(1). Many studies show that if mothers took enough vitamin B and folic acid prior to conception, and throughout the first month of pregnancy, then nearly 70% of all neural tube defects would be eliminated, including spina bifida(5).

The process of identifying your child with spina bifida can be determined as early as 12 to 14 weeks after conception. This is done by checking the levels of alpha-fetoprotein. After the doctor performs this test, if prevalence for neural tube defects is present, then two more tests will be done. The first of those tests is a test called amniocentesis. In doing this test, the doctor will insert a needle into the abdomen of the mother, and draw out some amniotic fluid where all levels of amniotic fluid are measured. The second of these tests is ultrasound. This test uses sound waves to produce images of the baby inside the womb, and the doctor will look at the development of the child's spinal column. Concluding these tests, after the baby is born, a set physical exams are performed as well as CT scans to check the infant out.

As Americans are well aware, obesity is a problem that affects the entire nation. Most Americans do not get enough exercise. The same is true for those people with Spina Bifida. Obesity is something that can highly effect the quality of life for individuals with Spina Bifida. Young children who have Spina Bifida generally grow at the same rate as their non-disabled peers, and it is therefore just as important to keep these individuals active. Facts show that after the age of six approximately 50% of children with Spina Bifida are overweight, and into adulthood over 50% are over weight (2). The tendency to be overweight is higher in individuals with hydrocephalus. Naturally obesity further limits what these individuals can do, decreasing their energy, their mobility, and making it harder for them to keep up with their peers in social and work related situations. As a result, daily tasks that manifest independence become increasingly harder, and the standard of life and emotional upkeep are worsened. Prevention of obesity is the only sure fire method of maintaining optimal health. Basic healthy eating strategies are learned in the household, so it should be taken into account that children grow at a fast rate, but adults grow at a much slower rate. Therefore, parents and family members need to make sure to model good eating strategies at a young age.

Maintaining nutritional values is only one piece of the puzzle when it comes to higher standard of living for individuals with Spina Bifida. It is a fact that these individuals generally have a lower lean muscle mass to begin with, and breaking down fatty cells takes increasingly longer. It is important for children with Spina Bifida to enjoy exercise. Physical activity has so many benefits, but two main benefits include; burning calories and decreasing hunger. As a parent of a child with spina bifida, there are many things that you can do for your child. Many of these activities can be started when your child is very young. For example, when the child is very young, you can prop him or her up on his/her stomach with toys in front of him/her to encourage your child's use of the arms by reaching for toys. Another thing that parents can do for their young and less independent children with Spina Bifida is to move the child's joints through their full range of motion. By doing this, you are helping to maintain the health of the joints, and improve musculature around the joints.

There are many special considerations for children with Spina Bifida. These children have poor eye/hand coordination and spatial awareness, and it is important to stimulate all senses that the child has (hearing, seeing, touching, smelling, tasting, and moving). To help define space for these children activities that are good include; somersaulting, rolling, and turning. Another thing to work on with a child with Spina Bifida is eyes and hands working together. Activities to work on this include; threading beads onto string, playing with building blocks or legos, and playing catch with a ball (age appropriate). On top of these activities, any arts and crafts time is good for children with disabilities to work on their fine motor skills. This can include, coloring, painting, cutting, or working with clay. By the time that these children are older, most activities that any other child enjoys can be adapted for a child with Spina Bifida. Taking into account these children's mobility impairments, things such as horseback riding, swimming, tennis, basketball, and track are all activities that can be enjoyed by individuals with Spina Bifida.

In the Gainesville, Florida area alone, there are therapy programs that involve horseback riding, instructional swimming lessons and adapted water games in the spring and summer, and a wheelchair basketball night at the local community college. Increasing physical fitness and involvement will leave the child feeling better about themselves as well as healthier and happier. Not only is physical fitness good for these children, but it is important also to implement stretching into the child's everyday life. Stretching is a good activity for the child, and it is something that, as the child gets older, he/she can do it on their own. A good stretching activity to teach these kids is proprioceptive neuromuscular facilitation (PNF) stretching. This stretching uses muscle contraction and relaxation in opposition to attain a heightened form of flexibility. An example of this would be using the child who has myelomeningocele, and is in a wheelchair, to then use his/her wheelchair to be the resistive force in stretching upper body muscles (shoulders, neck, forearms, upper back). This will help in maintaining the best degree of motion in the joints, as well as benefit the individual strength-wise.

Today the prominence of Spina Bifida and other neurological disorders is no longer growing. Due to many advances in medical technology and advances in genetic fields, doctors are able to find the problem earlier and do more to help the baby through pregnancy, as well as directly after birth. With the high numbers surrounding Spina Bifida and other neurological disorders already existing, it is important for all soon-to-be mothers to plan their births, and make sure that they maintain their own health to avoid these types of problems. One thing that doctors emphasize is the intake of folic acid. Without proper consideration, most Americans do not get their daily values of it. A lack of folid acid has been proven to be a link to this disorder, and should be a strong factor in consideration upon birth expectancy. Because not all factors can be explained my modern medicine yet, all neurological disorders can be avoided. Due to the fact that this is a problem, it is important that if your child is born with spina bifida, or any other disorder, that you as a parent are a large advocate for the success and growth of your child. Things that are included in this category are nutrition, exercise, proper schooling, doctor visits, and any other therapy that your child may need to lead a good life, and feel good about themself. Every child should be fed properly, and excess sugar is something that is a problem in an increasingly fat society. With that said, it is important that you teach your child the benefits of a good diet as well as the importance of taking vitamins.

On top of this, exercise is something that all Americans should be participating in daily, or at least three times a week. The same is true for an individual with a disorder. The disorder does not prevent you from getting any other type of disease; in fact almost in every case it ups your risk. That being said, with a prevalence of obesity, heart disease, and diabetes rising in America, it should be a special health concern of individuals with a disability. When it comes down to it, as with any disability or disorder there are high risks, and research is being done everyday to find a cure. Research claims that one day scientists and doctors will help children inside the womb, so that when they are born, their problem no longer exists and they can live a normal happy childhood life.

REFERENCES

• Henry, Judy, RN, BSN. Treating Myelomeningocele. Pediatric Endocrinology Nursing
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• Spina Bifida Association of America. Facts about spina bifida. Washington,
  DC: Author. (Available online at: www.sbaa.org/html/sbaa_facts.html)
• Stopka, Christine PhD, Todorovich, John R. PhD. Applied Special Physical Education
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• www.dictionary.com. 10/07/2005
• http://www.marchofdimes.com/professionals/681_1224.asp. 11/12/2005
• http://www.nichcy.org/pubs/factshe/fs12txt.htm. 11/10/2005
• http://quickfacts.census.gov/qfd/states/00000.html. 11/10/2005

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