Spina Bifida FAQ

What is spina bifida?

Spina bifida is a neural tube defect where the backbone and spinal canal do not close properly. There are three forms of this disorder recognized: occulta, meningocele and myelomeningocele. The first, occulta, is the mildest form. This form involves undeveloped vertebrae arches somewhere along the spine. Quite often, the patient may not know it is there. In some cases, the patient can begin showing subtle, but progressive, neurological deterioration. However, in most cases, it may cause no symptoms at all.

With the meningocele from of the disorder, the meninges come out between the developed vertebrae into a sac that protrudes from the back. In most cases, the patient does not have long-term health conditions. Myelomeningocele happens when an unformed part of a vertebra allows the spinal cord to protrude through the opening. The only protection the spinal cord has is a sac of fluid. In many cases, the spinal cord has not fully developed at that opening. It can lead to some level of paralysis or loss of feeling.

What are the causes of spina bifida?

The basic cause of spina bifida is the incomplete closure of the neural tube during the first month of gestation. Science and research has not fully identified the cause for this incomplete closure. One significant cause, however, is a low level of folic acid in the pregnant woman. This vitamin plays a significant role in the development and maintenance of the brain and spinal cord. There may also be a genetic component since women with one child with a neural tube defect have a higher risk of having other children with a similar defect.

What are the risk factors for spina bifida?

All women are at risk of having a child with spina bifida or another neural tube defect. However, there are certain factors that can increase that risk. Women who have had a previous pregnancy involving a neural tube defect can have additional pregnancies with this disorder. Hispanic women are at higher risk of having a child with a neural tube defect than white women. White women are at higher risk than black women are.

Women who have insulin-dependent diabetes or who are obese have a higher risk of having a child with this birth defect. Taking certain anti-seizure medications can increase the chances of a neural tube defect. There is also a link to lower socio-economic women having a higher chance.

What are the symptoms & signs of spina bifida?

The symptoms and signs will vary with the type of spina bifida. Many with the occulta form do not know they have the condition. The patient might have a slight indentation at the point where the vertebra has not fully formed. Symptoms of neurological problems may show up later in life. With the meningocele form, the signs are usually a bit more obvious. The meninges that protrude beyond the spinal column are usually in a sac that protrudes off the layer of skin in the back. With the myelomeningocele form, a sac usually forms where the spinal cord protrudes through the incompletely formed vertebra. Infants with spina bifida can have hydrocephalus or a fluid buildup in the brain.

What are the diagnosis & tests for spina bifida?

To test for spina bifida, the doctor will request an alpha-fetoprotein test. This test shows if the mother has an elevated level of this protein. After the earliest stage of pregnancy, the level of this protein begins to decline. However, in pregnancies with neural tube defects, the levels of this protein can be abnormally high. The test for this protein is only an indicator, not a definitive diagnosis. To make a further diagnosis, the doctor may request an ultrasound or amniocentesis.

What are the treatment options for spina bifida?

For babies with meningocele or myelomeningocele, a common treatment is to close the opening in the spinal column using surgery. This often happens within hours or days of birth. If the child is also dealing with hydrocephalus, the doctor may put a shunt into the brain at that time. Studies are currently underway to see if surgery in the womb is an effective treatment. Early indicators are that the babies have fewer complications after birth, but the surgery is quite risky to both mother and baby.

Treatment will continue throughout life for many people with spina bifida. For those dealing with paralysis, therapy usually starts soon after birth to prepare the baby for walking with braces later. This also includes helping the child gain control over the bladder and bowel. Surgery may be necessary later in life due to the spinal cord tangling in the scar tissue of the closure.

What are the prognosis and expectations for spina bifida?

The prognosis and expectations vary widely with spina bifida, depending on the exact type of the disorder the child has. With the mildest form, occulta, there may be no signs of the disorder until adulthood. However, in some cases, diagnosis comes accidently with x-rays or exams done for other medical conditions. Some with occulta spina bifida may have some subtle problems that become progressively worse over time. For those with the meningocele form, problems can form, but are usually minor.

With the myelomeningocele from of spina bifida, the problems are usually worse. Many children experience paralysis and loss of sensation in areas below where the spinal cord protrudes. Most children undergo surgery to close the opening in the spine. The length of life is not affected, but the damage to the spine is not reversible. With the likely paralysis, many patients use a wheelchair for mobility. Later in life, some may develop orthopedic issues such as joint tightness, foot deformities, and scoliosis.

What are the complications of spina bifida?

Some of the complications can begin at birth. The condition can lead to a traumatic delivery. This can potentially lead to decreased oxygen to the brain and potentially cerebral palsy. Many have continuing issues with hydrocephalus, or a buildup of fluid on the brain. Other common complications include meningitis, loss of bowel and bladder control, frequent infections along the urinary tract, and permanent paralysis or loss of sensation in the lower extremities.

When should you call your health care provider regarding spina bifida?

As soon as you know your child may have spina bifida, it is important to contact a qualified doctor. If you have had a previous pregnancy with a neural tube defect, it is important to speak with a doctor before getting pregnant again. With occulta spina bifida, you may not know you have it until later in life. Upon diagnosis, it is important to contact specialists to make sure there are no problems later in life.

What can you do to prevent spina bifida?

Science shows that women who take at least 400 micrograms of folic acid can reduce the potential of having a child with a neural tube defect by up to 70%. For women who have had a child with a neural tube defect before, the suggested dosage is up to 4000 micrograms. Since there is a higher risk for women who are obese or who are dependent on insulin, losing weight or reducing dependence on insulin is both ways to prevent this disorder.

References:

Spina Bifida Association
http://www.spinabifidaassociation.org

Medline Plus – US National Library of Medicine
http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm

Mayo Clinic
http://www.mayoclinic.com/health/spina-bifida/DS00417

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