Spina Bifida

Spina bifida is a condition present at birth where the spine and spinal cord don’t develop properly, leaving a gap in the bones of the spine. While it can range from very mild to severe, understanding the condition and available treatments can help families navigate the challenges and support those affected to live full lives.

Table of contents

• What is spina bifida?
• Types of spina bifida
• Causes and risk factors
• Signs and symptoms
• Diagnosis
• Treatment and management
• Possible complications
• Living with spina bifida
• Prevention

What is spina bifida?

Spina bifida is a condition that affects the spine and is usually present at birth. It is a type of neural tube defect, which means there is a problem with how the brain and spinal cord develop during early pregnancy.^[1][2]

The neural tube is a structure in a developing embryo that eventually becomes the baby’s brain and spinal cord and the tissues that surround them. Typically, the neural tube forms early in pregnancy and closes by the 28th day after conception. In babies with spina bifida, a portion of the neural tube doesn’t close all the way. This means that the backbone that protects the spinal cord doesn’t form and close properly, leaving a section of the spinal cord and spinal nerves exposed through an opening in the back.^[1][2]

Spina bifida can happen anywhere along the spine if the neural tube does not close completely. When this happens, it often results in damage to the spinal cord and nerves. The most common location is the lower back, but in rare cases it may be in the middle back or neck.^[2][10]

In the United States, spina bifida occurs in about 1 in every 2,875 babies born each year. This makes it one of the most common birth defects affecting the central nervous system. Around 1,500 babies are born with spina bifida in the U.S. each year, with an estimated 166,000 individuals living with the condition.^[2][3][7]

Types of spina bifida

There are three main types of spina bifida, which differ in how serious they are and what problems they might cause.^[1][2]

Spina bifida occulta

Spina bifida occulta is the mildest and most common form. The name “occulta” means “hidden” because a layer of skin covers the small gap in the spine, making it hard to see. This type happens when one or more of the bones of the spine, called vertebrae, do not form correctly. There is only a small separation or gap in the vertebrae, with no opening or sac on the back.^[1][2]

Many people who have spina bifida occulta don’t know they have it because there are usually no symptoms and the spinal cord and nerves are typically normal. About 15 percent of healthy people have this form. It may be discovered during an imaging test such as an X-ray performed for an unrelated reason.^[1][2]

Meningocele

Meningocele is a rare form of spina bifida. In this type, the protective covering around the spinal cord (called the meninges) pushes out through an opening in the spine, forming a sac filled with fluid on the baby’s back. However, the spinal cord itself is not in this sac. In most cases, the spinal cord and nerves are normal or not severely affected, so there is usually little or no nerve damage.^[1][2]

Children with meningocele may have only mild symptoms or some difficulties. The fluid-filled sac is often covered by skin and may require surgery to repair.^[2][4]

Myelomeningocele

Myelomeningocele is the most serious and most common type of spina bifida. It accounts for about 75 percent of all spina bifida cases. When people talk about spina bifida, they are most often referring to myelomeningocele.^[2][9]

In this form, part of the spinal cord and surrounding nerves push through the open bones in the spine and stick out from the baby’s back. A sac containing spinal cord and nerves forms on the back, and this sac is exposed to the amniotic fluid (the fluid surrounding the baby during pregnancy). In some cases, the sac is covered with skin, but in other cases, tissue and nerves may be exposed.^[1][3]

Continuous exposure of the fragile developing spinal cord to amniotic fluid over the course of pregnancy is thought to result in progressive nerve damage. This type of spina bifida causes moderate to severe disabilities, such as problems with leg movement, loss of feeling below the opening in the spine, and loss of bowel and bladder control.^[1][2][3]

Causes and risk factors

The exact cause of spina bifida is not fully understood. Scientists believe that a complex mix of both genetic and environmental factors act together to cause the condition. About 95 percent of babies with spina bifida are born to parents with no family history of the condition.^[7][9][10]

However, certain factors can increase the risk of having a baby with spina bifida. These risk factors include:^[1][2][4]

• Not getting enough folic acid (vitamin B9) in the diet before and during pregnancy
• Having already had a child with a neural tube defect or having spina bifida yourself
• Taking certain medications during pregnancy, such as some antiseizure medications like valproic acid
• Having diabetes that is not well controlled
• Being obese
• Having a high fever or overheating during early pregnancy

After having one child with the condition, or if one of the parents has the condition, there is about a 4 percent chance that the next child will also be affected. The risk increases to 10 percent for a third child.^[9][10]

Hispanic women have the highest rate of having a child with spina bifida compared with non-Hispanic white and non-Hispanic Black women in the United States.^[2]

Signs and symptoms

The symptoms of spina bifida are different from person to person, depending on the type and severity of the condition. Symptoms depend on where on the spine the opening is located, how big it is, and whether the spinal cord and nerves are involved.^[1][5]

People with spina bifida occulta may have no symptoms at all, or they might have only a small sign on their back such as a hairy patch, dimple, dark spot, or small swelling on the lower back at the site of the gap in the spine.^[1][10]

Those with meningocele typically have mild problems. There is a sac of fluid present at the gap in the spine, but there is usually little nerve damage.^[1][10]

Myelomeningocele causes the most serious symptoms. These may include:^[4][6]

• Weakness or total paralysis of the legs
• Back pain
• Bowel and bladder problems, including loss of control
• Loss of skin sensation in the legs and around the bottom, meaning the child cannot feel hot or cold, which can lead to accidental injuries
• Leg weakness
• Loss of feeling or sensation

Many babies with myelomeningocele also have or develop hydrocephalus, which is a build-up of fluid on the brain. About 70 to 90 percent of children born with myelomeningocele have this condition. Hydrocephalus can cause the spaces in the brain to become too large and the head to swell, which can further damage the brain if not treated.^[2][6]

Most people with spina bifida have normal intelligence, but some may have learning difficulties with motor skills, memory, or problem solving.^[4][6]

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.^[2]

During pregnancy

During pregnancy, there are screening tests, known as prenatal tests, to check for spina bifida and other birth defects. These tests include blood tests and ultrasound examinations.^[1][2][11]

A blood test called the maternal serum alpha-fetoprotein (MSAFP) test measures a protein produced by the baby. It is typical for a small amount of this protein to cross the placenta and enter the pregnant parent’s bloodstream. However, high levels may suggest that the baby has a neural tube defect such as spina bifida. The MSAFP test might be part of a test called the “quad screen.”^[2][11]

An ultrasound exam is the most accurate way to diagnose spina bifida in a baby before delivery. Frequently, spina bifida can be seen with an ultrasound, which creates a picture of the baby using sound waves. Ultrasound is typically done between 18 and 21 weeks of pregnancy.^[1][6][11]

After the baby is born

In some cases, spina bifida might not be diagnosed until after the baby is born. Sometimes there is a visible sign on the back such as a hairy patch of skin, a dimple, or an opening with a sac. Once the baby is born, a number of tests may be carried out to find out how serious the condition is and help decide which treatments are needed.^[2][6]

Tests may include monitoring the child’s head growth and performing brain scans using ultrasound, CT scan, or MRI scan to check for hydrocephalus. Ultrasound scans of the bladder and kidneys may check whether the baby stores urine normally. An assessment of the baby’s movements can check for paralysis.^[6]

Treatment and management

There is no cure for spina bifida, but treatments are available to help manage symptoms and prevent complications. When necessary, early treatment for spina bifida involves surgery. However, surgery doesn’t always completely restore lost function.^[1][5]

Surgery to repair the spine

In babies with spina bifida, surgery is usually needed to repair the opening in the spine. For babies with myelomeningocele, surgery is typically performed within 24 to 48 hours of birth. During surgery, the surgeon will put the spinal cord and any exposed tissues or nerves back into the correct place. The gap in the spine is then closed and the hole sealed with muscle and skin.^[6][13]

Although this surgery will repair the defect, unfortunately it cannot reverse any nerve damage that has already occurred.^[6]

Sometimes, when a baby has myelomeningocele, doctors will perform surgery to close the spine before birth. This is a major procedure for both the mother and the baby and may not be available in all locations. This surgery has been proven to prevent further damage and improve outcomes.^[3][15]

Treating hydrocephalus

Surgery is usually needed if a child has hydrocephalus. The surgeon will put in a thin tube called a shunt to drain away excess fluid from the brain to another part of the body, usually the belly. The shunt will usually need to remain in place for the rest of the child’s life. Further surgery may be needed if the shunt becomes blocked or infected, or if the child grows out of the shunt and needs a larger one.^[13][15]

Other treatments and supportive care

A person with spina bifida will be checked and treated by doctors who specialize in different parts of the body. These specialists might include an orthopedist (who works with muscles and bones), a urologist (who checks the kidneys and bladder), and a neurosurgeon (who checks the brain and spine).^[15][18]

People with spina bifida often cannot control when they go to the bathroom. They also can develop urinary tract infections. It is important to develop a plan for going to the bathroom that works and is as simple as possible. Healthcare providers can help develop a plan for each person. A tube called a catheter may be inserted in the bladder to help drain urine. In some cases, extra fiber can be added to the diet to keep bowel movements regular. Surgery also might be recommended.^[13][15]

Physiotherapy is an important way of helping someone with spina bifida to become as independent as possible. The main aim is to help with movement, prevent deformity, and stop the leg muscles from weakening further. This may involve daily exercises to help maintain strength in the leg muscles, as well as wearing special splints to support the legs.^[13]

Occupational therapy can help people find ways to carry out everyday activities and become more independent. An occupational therapist can help find practical solutions to problems such as getting dressed, for example by providing equipment such as handrails to make activities easier.^[13]

People who are unable to use their legs may need a wheelchair. Electric wheelchairs are available, but using a manual wheelchair can help maintain good upper body strength. Leg braces, splints, and other walking aids can be used by people who have weak leg muscles.^[13][18]

Possible complications

Complications are more common with the more severe types of spina bifida and may include:^[4][15]

• Difficulty walking or total paralysis of the legs
• Hydrocephalus (build-up of fluid in the brain)
• Learning disabilities affecting motor skills, memory, or problem solving
• Scoliosis (curvature of the spine)
• Tethered spinal cord, where the spinal cord is abnormally attached to the surrounding tissue and cannot move freely, which can stretch and damage the spinal cord as a child grows
• Skin problems, as children and adults with spina bifida may have limited feeling in some areas of their body, leaving them unable to feel cuts, bruises, sores, and dry skin
• Latex allergy, as many people with spina bifida can develop sensitivity to products that contain latex or natural rubber, possibly due to frequent exposure during medical procedures

Adults who have spina bifida may face different problems than children, including faster declining aging processes (loss of muscle strength and flexibility, less physical stamina, decrease in sensory abilities), constipation or abdominal pain, bone and joint issues (osteoporosis, early onset of arthritis, progressive back pain), and high blood pressure.^[4]

This condition may affect emotional health as children get older. Living with a chronic condition can be tough to manage day in and day out. They may find comfort in speaking with a mental health professional or joining a support group.^[4]

Living with spina bifida

Thanks to medical advances, children born with spina bifida are now living well into adulthood. With the right treatment and support, many children with spina bifida survive well into adulthood. It can be a challenging condition to live with, but many adults with spina bifida are able to lead independent and fulfilling lives.^[6]

Every person affected by spina bifida experiences their own journey. No two people experience life with spina bifida in the same way. Each person with spina bifida has different abilities and health challenges. The severity of the condition depends on factors such as the size of the opening, the location on the spine, and the type of spina bifida.^[5][7]

People affected by spina bifida get around in different ways. They might walk without any aids or assistance, walk with braces, crutches or walkers, or use a wheelchair. Regular activity is important, particularly for people with conditions that affect movement.^[18]

Many children with spina bifida do well in school. Most people with spina bifida have normal intelligence. However, some can experience difficulties, especially children with shunts used to treat hydrocephalus. Some may have issues with learning, particularly with executive functioning, even though they may show strengths in verbal skills, vocabulary, and word reading.^[6][18]

Every person needs a primary care provider, such as a pediatrician or general family doctor. The provider will check that the person is healthy, developing normally, and receiving immunizations against diseases and infections. In addition to seeing a primary healthcare provider, a person with spina bifida will be checked and treated as needed by doctors who specialize in different parts of the body.^[15][18]

Prevention

Most cases of spina bifida can be prevented if the mother gets enough folic acid before and during pregnancy. Research has shown that if all women who could possibly become pregnant were to take a multivitamin with folic acid, the risk of neural tube defects like spina bifida could be reduced by up to 70 percent.^[6][10]

Folic acid is a B-vitamin that helps build healthy cells. Since spina bifida occurs early in pregnancy, often before a woman knows she is pregnant, it is important that women of child-bearing age take folic acid every day. Adding folic acid to flour has been found to be an effective way to increase the amount of folic acid in people’s diets and reduce the number of cases.^[10]