References

http://en.wikipedia.org/wiki/Spina_bifida
http://www.emedicinehealth.com/spina_bifida/article_em.htm
http://www.cdc.gov/ncbddd/spinabifida/facts.html
http://www.spinabifida.net/
http://www.medicinenet.com/spina_bifida_and_anencephaly/article.htm
http://www.americanpregnancy.org/birthdefects/spinabifida.html
http://www.emedicinehealth.com/spina_bifida/page10_em.htm
http://www.nurse-ocha.com/2009/02/spina-bifida.html

Nursing Intervention

• Assess the sac and measure the lesion

• Assess neurological system

• Assess and monitor for increasing ICP

• Measure head circumferences

• Protect the sac, cover with a sterile, moist (normal saline), nonadherent dressing and change the dressing every 2-4 hours

• Place patient in prone position and head to one side

• Use antiseptic technique

• Assess and monitor the sac for redness, clear or purulent drainage, abrasions, irritation, and signs of infection

• Assess for hip and joint deformities

• Administer medication: antibiotics, anticholinergics, and laxatives as prescribed

Prevention

The only known way to prevent spina bifida and other neural tube defects is for the mother to have adequate folic acid levels before and during early pregnancy. This does not work in all cases, but studies have shown that as many as 70% of cases of severe spina bifida could be prevented by adequate folic acid intake. 

Folic acid is essential for life.

• The need for folic acid increases during periods of rapid growth, such as development of a fetus in the womb.

• Many breakfast cereals and grain products in the United States are now fortified with folic acid.

• Besides fortified foods, other good sources of folic acid include dark green leafy vegetables (for example, broccoli, spinach, dark green lettuce), egg yolks, beans, whole grains, orange juice, and citrus fruits.

• The average diet in the United States does not include the recommended level of folic acid.

It is very important that folic acid levels be adequate from the very beginning of pregnancy, before a woman even knows that she is pregnant. The critical need for folic acid is in the first 4 weeks of pregnancy. Waiting until she knows she is pregnant to start increasing folic acid intake is not good enough. All women who are able to become pregnant should take a folic acid supplement, even if they are not planning to become pregnant. (Half of all pregnancies in the United States are not planned.) The folic acid may be taken alone or as part of a daily multivitamin.

• Women who do not plan to become pregnant in the near future should take 400 micrograms (mcg) per day. This strength of folic acid is available over the counter without a prescription.

• Women who plan to become pregnant in the near future and have spina bifida themselves, have had a child with spina bifida, or have had a previous pregnancy affected by spina bifida or another neural tube defect should take 10 times this dose (4000 mcg, or 4 milligrams [mg]) for 1-3 months before becoming pregnant. This higher dose is available only by prescription.

• Women should not try to get 4000 mcg of folic acid by taking 10 multivitamins every day. The extra amounts of other vitamins could harm the woman and her fetus.

Studies have suggested that cesarean delivery before labor begins can reduce the severity of paralysis in many babies with spina bifida. Couples who have a prenatal diagnosis of spina bifida for their baby may wish to consider a planned cesarean delivery. 

Treatment

There is no known cure for nerve damage caused by spina bifida because the nerve tissue cannot be replaced or repaired. To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. The spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen or chest wall. However, if spina bifida is detected during pregnancy, thenopen or minimally-invasive fetal surgery can be performed.

Treatment for the variety of effects of may include surgery, medication, and physiotherapy.

Many individuals with Spina bifida will require assistive devices such as braces, crutches, and/or wheelchairs.

Ongoing therapy, medical care, and/or surgical treatments may be necessary to prevent and manage complications throughout the individual's life.

Surgery to close the newborn's spinal opening is generally performed within 24 hours after birth to minimize the risk of infection and to preserve existing function in the spinal cord.

In childhood

Most individuals with myelomeningocele will need periodic evaluations by a variety of specialists:

• Orthopedists monitor growth and development of bones, muscles, and joints.

• Neurosurgeons perform surgeries at birth and manage complications associated with tethered cord and hydrocephalus.

• Neurologists treat and evaluate nervous system issues, such as seizure disorders.

• Urologists to address kidney, bladder, and bowel dysfunction - many will need to manage their urinary systems with a program of catheterization. Bowel management programs aimed at improving elimination are also designed.

• Ophthalmologists evaluate and treat complications of the eyes.

• Orthotists design and customize various types of assistive technology, including braces, crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the level of the spina bifida defect, the more severe the paralysis, but paralysis does not always occur. Thus, those with low levels may need only short leg braces, whereas those with higher levels do best with a wheelchair, and some may be able to walk unaided.

• Physical therapists, occupational therapists, psychologists, and speech/language pathologists aid in rehabilitative therapies and increase independent living skills.

• Physiatrists coordinate the rehabilitation efforts of the different therapists and to prescribe specific therapies, adaptive equipment, or medications to encourage as high of a functional performance within their community as possible.

Transition to Adulthood

Although many children's hospitals feature integrated multidisciplinary teams to      coordinate healthcare of youth with spina bifida, the transition to adult healthcare can be difficult because the above healthcare professionals operate independently of each other, requiring separate appointments and communicate among each other much less frequently. Healthcare professionals working with adults may also be less knowledgeable about spina bifida because it is considered a childhood chronic health condition. Due to the potential difficulties of the transition, adolescents with spina bifida and their families are encouraged to begin to prepare for the transition around ages 14–16, although this may vary depending on the adolescent's cognitive and physical abilities and available family support. The transition itself should be gradual and flexible. The adolescent's multidisciplinary treatment team may aid in the process by preparing comprehensive, up-to-date documents detailing the adolescent's medical care, including information about medications, surgery, therapies, and recommendations. A transition plan and aid in identifying adult healthcare professionals are also helpful to include in the transition process.

Further complicating the transition process is the tendency for youths with spina bifida to be delayed in the development of autonomy, with boys particularly at risk for slower development of independence. An increased dependence on others (in particular family members) may interfere with the adolescent's self-management of health-related tasks, such as catheterization, bowel management, and taking medications. As part of the transition process, it is beneficial to begin discussions at an early age about educational and vocational goals, independent living, and community involvement. 

Diagnosis

Spina bifida can be diagnosed during pregnancy or after the baby is born. Spina bifida occulta might not be diagnosed until late childhood or adulthood, or might never be diagnosed.

During Pregnancy:

During pregnancy there are screening tests (prenatal tests) to check for spina bifida and other birth defects. Talk with your doctor about any questions or concerns you have about this prenatal testing.

AFP – AFP stands for alpha-fetoprotein (sounds like: al-fa–fee-toe-pro-teen), a protein the unborn baby produces. This is a simple blood test that measures how much AFP has passed into the mother’s bloodstream from the baby. A high level of AFP might mean that the baby has spina bifida. An AFP test might be part of a test called the “triple screen” that looks for neural tube defects and other issues.

Ultrasound – An ultrasound is a type of picture of the baby. In some cases, the doctor can see if the baby has spina bifida or find other reasons that there might be a high level of AFP. Frequently, spina bifida can be seen with this test.

Amniocentesis (sounds like: am-knee-oh-sin-te-sus; hear how “amniocentesis” sounds) – For this test, the doctor takes a small sample of the amniotic fluid surrounding the baby in the womb. Higher than average levels of AFP in the fluid might mean that the baby has spina bifida.

After the Baby Is Born:

In some cases, spina bifida might not be diagnosed until after the baby is born.

Sometimes there is a hairy patch of skin or dimple on the baby’s back that is first seen after the baby is born. A doctor can use an image scan, such as an, X-ray, MRI, or CT, to get a clearer view of the baby’s spine and the bones in the back.

Sometimes spina bifida is not diagnosed until after the baby is born because the mother did not receive prenatal care or an ultrasound did not show clear pictures of the affected part of the spine.

Pathophysiology

Spina bifida is caused by the failure of the neural tube to close during the first month of embryonic development (often before the mother knows she is pregnant).

Under normal circumstances, the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization.^[40] However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body temperature from fever or external sources such as hot tubs and electric blankets may increase the chances of delivery of a baby with a spina bifida.

Extensive evidence from mouse strains with spina bifida indicates that there is sometimes a genetic basis for the condition. Human spina bifida, like other human diseases, such as cancer,hypertension and atherosclerosis (coronary artery disease), likely results from the interaction of multiple genes and environmental factors.

Research has shown the lack of folic acid (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease the severity of these defects when they occur. It is unknown how or why folic acid has this effect.

Spina bifida does not follow direct patterns of heredity like muscular dystrophy or haemophilia. Studies show a woman having had one child with a neural tube defect such as spina bifida has about a 3% risk of having another child with a neural tube defect. This risk can be reduced to about 1% if the woman takes high doses (4 mg/day) of folic acid before and during pregnancy. For the general population, low-dose folic acid supplements are advised (0.4 mg/day).

Mode of Transmission

Spina bifida is not usually a transmitted disease. If the mother hasn't enough folic acid in her diet, it can develop the baby to have a spina bifida.

Occurrence of Spina Bifida

In the United States, there are 65 million women of childbearing age and each one is potentially at risk of having a pregnancy affected by Spina Bifida. Birth defects can happen in any family and in fact, 95 percent of neural tube defects (NTDs) occur in women with no personal or family history of NTDs.

Etiology of Spina Bifida

The exact cause of spina bifida is still unknown. Something goes wrong in the first 2 months after conception but experts often don't know why. It's been shown that women who have low levels of folic acid (a B vitamin) are more likely to give birth to children with neural tube defects. The assumption is that when the genes of the fetus give the order to construct the spine, the necessary chemical building blocks are missing.

There's almost certainly no single spina bifida gene, and it can occur in any pregnancy, yet some people are predisposed to it. Women with a family history of neural tube defects are at increased risk of giving birth to a baby with such a defect. Couples who already have a child with spina bifida have a slightly higher risk of having another baby with neural tube defects.

Still, most cases of spina bifida occur in families with no history of the condition.

Other risk factors for having a child with spina bifida include obesity and uncontrolled diabetes.

Signs and symptoms of Spina Bifida

Physical complications

Physical signs of spina bifida may include:

• Leg weakness and paralysis
• Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)
• Bladder and bowel control problems, including incontinence, urinary tract infections, and poor renal function
• Pressure sores and skin irritations
• Abnormal eye movement

68% of children with spina bifida have an allergy to latex, ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. The most common approach to avoid developing an allergy is to avoid contact with latex-containing products such as examination gloves, condoms, catheters, and many of the products used by dentists.

The spinal cord lesion or the scarring due to surgery may result in a tethered spinal cord. In some individuals, this causes significant traction and stress on the spinal cord and can lead to a worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or bladder function.

Neurological complications

Many individuals with spina bifida have an associated abnormality of the cerebellum, called the Arnold Chiari II malformation. In affected individuals, the back portion of the brain is displaced from the back of the skull down into the upper neck. In about 90% of the people with myelomeningocele, hydrocephalus also occurs because the displaced cerebellum interferes with the normal flow ofcerebrospinal fluid, causing an excess of the fluid to accumulate. In fact, the cerebellum also tends to be smaller in individuals with spina bifida, especially for those with higher lesion levels.

The corpus callosum is abnormally developed in 70-90% of individuals with spina bifida myelomeningocele; this impacts the communication processes between the left and right brain hemispheres. Further, white matter tracts connecting posterior brain regions with anterior regions appear less organized. White matter tracts between frontal regions have also been found to be impaired.

Cortex abnormalities may also be present. For example, frontal regions of the brain tend to be thicker than expected, while posterior and parietal regions are thinner. Thinner sections of the brain are also associated with increased cortical folding. Neurons within the cortex may also be displaced.

Executive function

Several studies have demonstrated difficulties with executive functions in youth with spina bifida, with greater deficits observed in youth with shunted hydrocephalus. Unlike typically developing children, youths with spina bifida do not tend to improve in their executive functioning as they grow older. Specific areas of difficulty in some individuals include planning, organizing, initiating, and working memory. Problem-solving, abstraction, and visual planning may also be impaired. Further, children with spina bifida may have poor cognitive flexibility. Although executive functions are often attributed to the frontal lobes of the brain, individuals with spina bifida have intact frontal lobes; therefore, other areas of the brain may be implicated.

Individuals with spina bifida, especially those with shunted hydrocephalus, often have attention problems. Children with spina bifida and shunted hydrocephalus have higher rates of ADHD than typically developing children (31% vs. 17%). Deficits have been observed for selective attention and focused attention, although poor motor speed may contribute to poor scores on tests of attention. Attention deficits may be evident at a very early age, as infants with spina bifida lag behind their peers in orienting to faces.

Academic skills

Individuals with spina bifida may struggle academically, especially in the subjects of mathematics and reading. In one study, 60% of children with spina bifida were diagnosed with a learning disability. In addition to brain abnormalities directly related to various academic skills, achievement is likely affected by impaired attentional control and executive functioning. Children with spina bifida may perform well in elementary school, but begin to struggle as academic demands increase.

Children with spina bifida are more likely than their typically developing peers to have dyscalculia. Individuals with spina bifida have demonstrated stable difficulties with arithmetic accuracy and speed, mathematical problem-solving, and general use and understanding of numbers in everyday life. Mathematics difficulties may be directly related to the thinning of the parietal lobes(regions implicated in mathematical functioning) and indirectly associated with deformities of the cerebellum and midbrain that affect other functions involved in mathematical skills. Further, higher numbers of shunt revisions are associated with poorer mathematics abilities. Working memory and inhibitory control deficiencies have been implicated for math difficulties, although visual-spatial difficulties are not likely involved. Early intervention to address mathematics difficulties and associated executive functions is crucial.

Individuals with spina bifida tend to have better reading skills than mathematics skills. Children and adults with spina bifida have stronger abilities in reading accuracy than in reading comprehension. Comprehension may be especially impaired for text that requires an abstract synthesis of information rather than a more literal understanding. Individuals with spina bifida may have difficulty with writing due to deficits in fine motor control and working memory.

Social complications

Compared to typically developing children, youths with spina bifida may have fewer friends and spend less time with peers. They may be more socially immature and more passive in social situations. These children have also reported feeling less close to their friends and feel they do not receive as much emotional support from their friendships. Many social difficulties tend to be stable, lasting into adulthood. Youth encountering the most social difficulties tend to have lower executive functioning and shunted hydrocephalus. However, not all studies have found social difficulties in these youth compared with their typically developing peers. 

Spina Bifida Overview

The human nervous system develops from a small, specialized plate of cells (the neural plate) along the back of an embryo. Early in fetal development, the edges of this plate begin to curl up toward each other, creating the neural tube -- a narrow sheath that closes to form the brain and spinal cord of the embryo. As development progresses, the top of the tube becomes the brain and the remainder becomes the spinal cord. This process is usually complete by the 28th day of pregnancy. But if problems occur during this process, the result can be brain disorders called neural tube defects, including spina bifida.

What is Spina Bifida?

Spina bifida (Latin: "split spine") is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly, a condition in which the portion of the neural tube that will become the cerebrum does not close, and encephalocele, which results when other parts of the brain remain unfused.

Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord. Intrauterine surgery for spina bifida has also been performed, and the safety and efficacy of this procedure are currently being investigated. The incidence of spina bifida can be decreased by up to 70% when the mother takes daily folic acid supplements prior to conception. This was a study done on mothers who already have a child with spina bifida.

Spina bifida progresses from a cleft, or splitlike opening, in the back part of the backbones (the spinal vertebrae). In more severe cases, it involves the spinal cord. Spina bifida is the most common of a group of birth defects known as neuraltube defects, which affect the central nervous system (brain and spinal cord).

Spina bifida begins in the womb, when the tissues that fold to form the neural tube do not close or do not stay closed completely. This causes an opening in the vertebrae, which surround and protect the spinal cord. This occurs just a few weeks (21 to 28 days) after conception—usually before the woman knows that she is pregnant.

The three most common types of spina bifida are: 

• Spina bifida occulta: “Occulta” means hidden, and the defect is not visible. Spina bifida occulta is rarely linked with complications or symptoms. Spina bifida occulta is usually discovered accidentally when the person has an x-ray or MRI for some other reason. The prevalence of occulta is not known, but it is probably the most common type of spina bifida. Estimates of prevalence from 5% to as high as 40% have been proposed.
• Meningocele: The membrane that surrounds the spinal cord may enlarge, creating a lump or “<cyst.” This is often invisible through the skin and causes no problems. If the spinal canal is cleft, or “bifid,” the cyst may expand and come to the surface. In such cases, since the cyst does not enclose the spinal cord, the cord is not exposed. The cyst varies in size, but it can almost always be removed surgically if necessary, leaving no permanent disability. This is an uncommon type of spina bifida.
• Spina bifida cystica (myelomeningocele): This is the most complex and severe form of spina bifida. Spina bifida cystica usually involves neurologicalproblems that can be very serious or even fatal. A section of the spinal cord and the nerves that stem from the cord are exposed and visible on the outside of the body. Or, if there is a cyst, it encloses part of the cord and the nerves. This condition, which was documented 4000 years ago, accounts for 94% of cases of true spina bifida.

The term “spina bifida” often is used interchangeably with myelomeningocele, since this is the type of spina bifida that causes the vast majority of disability. Fortunately, surgery is an effective treatment in most people with spina bifida. Most infants with an open spine or myelomeningocele undergo surgery within the first 48 hours of life to close the defect. Antibiotics are given to prevent infection of the exposed spinal cord and nerves until these structures can be protected by surgery.
  
Before antibiotics were available, most children born with myelomeningocele died soon after birth. Those who survived were severely disabled. With modern treatment, almost all children with myelomeningocele survive and most are able to live productive lives with some degree of independence. Even with these treatments, however, most have some degree of permanent leg paralysis and often difficulties with bowel and bladder function. The extent of paralysis depends on which part of the spinal cord is involved. The higher the defect on the body, the more severe the paralysis. About 80% of myelomeningoceles occur in the lumbar(lower back) and sacral (tailbone) regions of the spine. 

Spina bifida is one of the most common severe birth defects, historically occurring in 1 live birth per 1000 in the United States. The rates of spina bifida are higher in Hispanics and whites of European descent than in Ashkenazi Jews, Asians, and African Americans. Rates are also higher among mothers with certain health problems, such as diabetes or seizure disorders (taking certain anticonvulsants), and significantly higher among couples in which at least one has spina bifida, and among couples who have already had a child with spina bifida. 

The outlook for spina bifida has improved remarkably in the last decade. Not only have advanced surgical techniques improved quality of life for people born with spina bifida, but evolving approaches to early diagnosis have even opened the possibility of corrective surgery while still in the womb. Furthermore, studies completed in the 1990s showed that as many as 70% of cases of neural tube defects could be prevented by adequate intake of folic acid immediately before and in early pregnancy. A rigorous program of public education and fortification of popular foods with folic acid in the United States has decreased the rate of neural tube defects by about 20% in just a few years.