Spina Bifida

What is spina bifida?

Spina bifida is one of the most commonly occurring inborn disorders (birth defects) in the United States. It’s caused by the incomplete development of the fetus' spine during the first month of pregnancy. (The term spina bifida means “split spine.”) Spina bifida is usually apparent at birth.

Spina bifida happens during the first 28 days of pregnancy, often before a woman knows she’s pregnant. The condition is a type of neural tube defect (NTD).

This sounds scary and some types of spina bifida are very serious. But it’s important to know that the condition varies widely in degree. Most cases are so mild they have no symptoms and don’t even need treatment (this occurs with spina bifida occulta, or “hidden spina bifida”).

However, infants born with a more serious type of this disorder have open lesions on their spine where there’s significant damage to nerves and the spinal cord. The opening can be repaired through surgery, but the nerve damage isn’t resolved and that causes permanent disability. Spina bifida can occur anywhere along the backbone, but is most often found in the small of the back or further down.

What are the types of spina bifida?

There are three main types of spina bifida:

• Spina bifida occulta.
• Meningocele.
• Myelomeningocele.

Spina bifida occulta

Spina bifida occulta is the mildest and most common form of this disorder. It usually only involves a minimal portion of the spine; it usually shows no symptoms, and it does not require treatment. When an infant is born with spina bifida occulta, the skin covers the deformity of the spinal bone.

Spina bifida occulta literally means "a hidden spot on the spine," and for many people with this type of spina bifida, the spot remains hidden. In some people, though, the skin overlying the bony defect will show subtle changes, such as a dimple, red or purple coloring or a tuft of hair. It has been estimated that about 10% to 20% of the U.S. population has spina bifida occulta -- and most don’t even know they have it.

Rarely, spina bifida occulta will cause problems when a child grows to adolescence. By this time in the child's life, the spinal cord has become fastened to the backbone. When the growth spurt of adolescence begins, the nerves of the spinal cord become stretched. The result can be difficulties such as weakness and numbness in the legs, bladder infections and incontinence (lack of bladder and bowel control). The more the spinal cord is stretched, the worse the symptoms become. Surgery to relieve these symptoms by reducing the tension on the spinal cord is simple and often successful.

Meningocele

In this least common type of spina bifida, the meninges (membrane surrounding the spinal cord) protrude through the opening causing a lump or sac on the back. More severe than spina bifida occulta, meningocele can nevertheless be repaired through surgery with little or no nerve damage resulting. The surgery is performed at any time during infancy. With meningoceles, the spinal cord has developed normally and is undamaged. The child has no neurological problems.

Myelomeningocele

Myelomeningocele is the most severe form of spina bifida, occurring nearly once for every 1,000 live births. For infants born with a myelomeningocele, the spinal cord does not form properly and a portion of the undeveloped cord protrudes through the back. A sac containing cerebrospinal fluid and blood vessels surrounds the protruding cord, which is usually not covered by skin so that the nerves and tissues are exposed.

Between 70% and 90% of infants born with myelomeningocele also experience hydrocephalus due to a defect at the base of the skull (Chiari malformation). Hydrocephalus is an excess buildup of spinal fluid on the brain that will cause brain damage, seizures or blindness if it is left untreated. To avoid this, plastic shunts must be surgically inserted beneath the skin to drain off excess fluid into the abdominal cavity.

Infants born with myelomeningocele often have paralysis or weakness below the level of the spinal lesion. This affects the lower limbs along with problems with bladder and bowel function. In extreme cases, the trunk and upper extremities are involved.

Spina Bifida in Adults

Adults who have spina bifida face different problems than do children, including:

• Normal aging process including loss of muscle strength and flexibility, less physical stamina, and a decrease in sensory abilities tend to decline faster or more sever for adults with SB.
• Spinal cord tethering, where the spinal cord becomes attached to surrounding tissue that causes symptoms of skin sores, rapidly progressing scoliosis, loss of sensation, pain (especially in the lower extremities or testicles), and urinary tract infections or leakage.
• Changes in bowel patterns including constipation or abdominal pain.
• Orthopedic issues such as osteoporosis, early on-set of arthritis, and progressive back pain.
• Loss of skin sensation as well as poor circulation, inability to sweat, bruising, and slow wound healing.
• Latex allergy
• High blood pressure
• Obstructive and central sleep apnea that can lead to long-term damage to the heart.
• Adults with spina bifida tend to have high rates of obesity.
• Women with spina bifida are able to get pregnant, but their condition can make pregnancy more complex.

What causes spina bifida?

The exact cause of the occurrence of spina bifida isn’t clear. A combination of genetics and environmental factors is thought to be the main cause.

Can spina bifida be diagnosed during pregnancy?

Yes. Spina bifida can usually be detected in the fetus, but not always. These tests include:

• A blood test: Taken during the 16th to 18th week of pregnancy, this screening tests the amount of AFP (alpha-fetoprotein) in the blood. The amount is higher in about 75% to 80% in women who carry a fetus with spina bifida.
• An ultrasound (sonogram): Problems with the fetus’s spine may be spotted through imaging.
• Amniocentesis: Fluid from the uterus is removed through a tube to test for protein levels.

How is spina bifida treated?

Because it involves nerve damage, more serious types of spina bifida cannot be cured. Children with more severe cases of spina bifida need to learn mobility skills and need training to learn to manage their bowel and bladder functions. Some may require catheterization to permit the passage of urine. These children also require multiple surgeries as they grow up and will need assistive devices such as braces, crutches and wheelchairs throughout their lives.

Surgery, physiotherapy and medication are used to treat some of the effects of spina bifida and may be needed throughout a patient's life to prevent and manage certain complications. Children with spina bifida, especially those who experienced hydrocephalus, sometimes have learning problems. These learning disorders generally involve difficulty with:

• Paying attention.
• Expressing or understanding language.
• Organizing.
• Sequencing.
• Comprehending math and reading.

Can spina bifida be prevented before and during pregnancy?

Even though there is no known cause, experts believe spina bifida can be avoided with some simple measures to follow:

• Folic acid, a water-soluble B vitamin often found in leafy green vegetables, plays an important role in the prevention of spina bifida. During childbearing years, women should take a vitamin with 400 mcg (0.4 mg) folic acid every day. Some studies suggest that if women take this dosage of folic acid the incidence of spina bifida could be reduced by up to 75%.
• Tell your healthcare provider if you are taking any prescription and over-the-counter drugs, herbal and dietary supplements and vitamins.
• Treat any fevers immediately with store brand acetaminophen or its brand name Tylenol®.
• Avoid using hot tubs or saunas that overheat your body.
• If you have diabetes or obesity, be sure to do your best to manage these conditions while you’re pregnant.

What is the outlook for people with spina bifida?

Types of spina bifida range from mild to severe. Some people may not feel any effects at all, while others may be limited in movement and learning development. It all depends on the individual case and the medical situation that was present at birth.

There is help available for all children affected by spina bifida and with the right care, most can lead active lives.

Where can I find more information about spina bifida?

Like many other conditions, education about spina bifida and local support groups can be the greatest tools for managing the disorder and preventing further complications. These organizations will give you additional information on spina bifida:

• Spina Bifida Association of America
• Easter Seals
• March of Dimes National Office