Spina bifida is a condition where the bones in the vertebral column do not fully cover the spinal cord, leaving it exposed. Symptoms range from mild to severe, and it can affect physical and intellectual development.

Spina bifida is a congenital problem, which means it is present before birth. It results from the incomplete closing of the embryonic neural tube. It is a neural tube defect.

There are four main types of spina bifida:

  • myelomeningocele
  • spina bifida occulta
  • closed neural tube defects
  • meningocele

Myelomeningocele is the most severe type. In spina bifida occulta, symptoms may be barely noticeable. Surgery and other treatment options can improve the quality of life for a person with severe symptoms.

This article will look at the symptoms, causes, and treatment for the most serious type, myelomeningocele.

During the first month after conception, the embryo develops a tissue structure known as the neural tube.

This structure gradually develops into bones, nerves, and tissue. These eventually form the nervous system, the spinal column, and the spine, a ridge of bone that protects and surrounds the nerves.

In spina bifida, the neural tube and spinal column do not develop properly. The spine does not close fully, and the spinal column remains exposed along several vertebrae.

A sac forms on the fetus’ back as the membranes and spinal cord push out. The sac may be covered with meninges, or membranes.

Out of 4 million babies born in the United States each year, spina bifida affects 1,500–2,000.

The four main types of spina bifida are:

Occulta

This is the mildest form and may produce no neurological signs or symptoms. There may be a small birthmark, dimple or tuft of hair on the skin where the spinal defect is. The person may never know they have spina bifida unless a test for another condition reveals it by chance.

Closed neural tube defects

Various defects may be present in the spinal cord’s fat, bone, or meninges. Often, there are no symptoms, but some people may have partial paralysis and bowel and urinary incontinence.

Meningocele

The spinal cord develops normally, but the meninges (the protective membranes that surround it) push through the opening in the vertebrae. Surgery can remove the membranes, usually with little or no damage to nerve pathways.

Myelomeningocele

This is the most severe form. The spinal cord is exposed, causing partial or complete paralysis of the body below the opening. The following section explains the symptoms in more detail.

An infant who is born with spina bifida may have or develop:

  • weakness or paralysis in the legs
  • urinary incontinence
  • bowel incontinence
  • a lack of sensation in the skin
  • a build up of cerebrospinal fluid (CSF), leading to hydrocephalus, and possibly brain damage

The nervous system will also be more prone to infections, some of which can be life-threatening.

CSF is a watery fluid that flows through the cavities inside the brain and also around the surface of the brain and the spinal cord. If there is too much CSF, this can lead to hydrocephalus, pressure on the brain, and ultimately brain damage.

If the opening in the vertebrae occurs at the top of the spine, there is a higher chance of complete paralysis in the legs and other problems with movement elsewhere in the body. If the openings are in the middle or the base of the spine, symptoms tend to be less severe.

Symptoms of myelomeningocele

Myelomeningocele is the most severe form of spina bifida. If hydrocephalus is present, it increases the chance of learning problems. A range of symptoms can occur.

Cognitive symptoms

Awareness, thinking, learning, judging and knowing are known as cognition. Problems in the neural tube can affect brain development. If the brain’s cortex, and especially the frontal part, does not develop properly, cognitive problems can arise.

Type 2 Arnold-Chiari malformation

This is an abnormal brain development involving a part of the brain known as the cerebellum. This may cause hydrocephalus. It can affect language processing and physical coordination.

Learning difficulties

Many people with spina bifida have normal intelligence, but some have difficulty with:

  • learning
  • focusing
  • solving problems
  • reading
  • understanding spoken language
  • making plans
  • grasping abstract concepts

Coordination

There may be problems with visual and physical coordination. Doing up buttons or shoelaces can be difficult.

Paralysis

Most people with this condition have some degree of paralysis in their legs.

Leg braces or a walking stick can help a person with partial paralysis to be mobile. However, a person with total paralysis will need a wheelchair.

Without exercise, the lower limbs can become weak, leading to dislocated joints and misshapen bones.

Meningitis

There is a higher risk of meningitis among people with spina bifida. This can be life-threatening.

Other problems

Bowel and urinary incontinence are common problems. Skin problems, gastrointestinal problems, latex allergies, and depression may also develop.

Skin damage can occur if the person lacks sensation in the legs. They may injure or burn themselves without realizing.

Treatment depends on the type of spina bifida, how severely it affects a person, and so on.

Surgical options

Surgery is possible in some cases.

Surgery to repair the spine

A surgeon can do this within 2 days of birth. They replace the spinal cord and any exposed tissues or nerves back into the newborn’s body, then close the gap in the vertebrae and seal the spinal cord with muscle and skin.

If bone development problems occur later, such as scoliosis or dislocated joints, further corrective surgery may be necessary. A back brace can help correct scoliosis.

Prenatal surgery

The surgeon opens the uterus and repairs the spinal cord of the fetus, usually during week 19 to 25 of pregnancy. This may reduce the risk of spina bifida worsening after delivery.

Cesarian-section birth

If spina bifida is present in the fetus, delivery will probably be by cesarean section, as there will be less risk to the exposed nerves.

Hydrocephalus

Surgery can treat a buildup of cerebrospinal fluid in the brain. The surgeon implants a thin tube, or shunt, in the baby’s brain. The shunt drains away excess fluid, usually to the abdomen. A permanent shunt is usually necessary.

The child may need further surgery if the shunt becomes blocked or infected. A surgeon may install a larger one as the child grows.

Physical and occupational therapy

Physical therapy

This is vital, as it increases the person’s chance of becoming independent and prevents the lower limb muscles from weakening. Special leg braces may help keep the muscles strong.

Assistive technologies

A person with total paralysis of the legs will need a wheelchair. Electric wheelchairs are convenient, but manual ones help maintain upper-body strength and general fitness.

Computers and specialised software may help those with learning difficulties.

Occupational therapy

This can help a child perform everyday activities more effectively, such as getting dressed. It can encourage self-esteem and independence.

Treatment for urinary incontinence

A urologist will carry out an assessment and recommend appropriate treatment.

Clean intermittent catheterization (CIC)

This is a technique to empty the bladder at regular intervals. The child or a parent or carer learns to place the catheter through the urethra and into the bladder to empty it.

Anticholinergics

Doctors often prescribe these drugs for adults with urinary incontinence, but they may prescribe it for a child with spina bifida. The drugs increase the amount of urine the bladder can hold and reduce the number of times the child has to pee.

Botox injection

Some people have a hyper-reflexic bladder, where the bladder contracts in an unusual way. The doctor may recommend a Botox injection to paralyze the muscles. If it works, treatment will be repeated every 6 months.

Artificial urinary sphincter (AUS)

A surgeon can implant a device with a silicone cuff, surrounded by a liquid, a pump, and a balloon. The device is attached to the urethra and the balloon is placed in the abdomen. The pump is placed under the skin of the scrotum in males and under the skin of the labia in females.

When the child needs to urinate, they press the pump. This temporarily empties the fluid from the cuff into the balloon, releasing the pressure on the cuff and opening the urethra, allowing urine to be released. It may not be suitable for younger boys who have not yet reached puberty.

Mitrofanoff procedure

The surgeon removes the appendix and creates a small channel, the Mitrofanoff channel, which ends at an opening, or stoma, just below the belly button.

The child can place a catheter into the stoma to release urine and empty the bladder.

Long-term use of antibiotics may be necessary to prevent urinary tract and kidney infections.

Treatment for bowel incontinence

A special diet and some toilet training techniques can help. Other treatment options include surgery.

Diet

A healthy, balanced diet with plenty of fiber can help prevent constipation, but too much fiber can cause diarrhea. A food diary will help keep a record of suitable foods.

Anal plugs

These are made of foam and inserted into the anus to prevent soiling. When the plug gets wet, it expands, blocking any feces and liquid from passing. Anal plugs work for about 12 hours. They can be removed by pulling an attached string.

Enema

If other techniques do not work, the person may benefit from an enema. These clean out the bowel for 2–3 days.

Surgery for bowel incontinence

If none of these treatments are effective, the doctor may recommend surgery.

Antegrade continence enema (ACE)

The surgeon uses the appendix to create a channel between the bowel and the abdomen. This channel ends at an opening, or stoma, in the surface of the abdomen.

If a person inserts catheter into the stoma, liquids can pass through the catheter, into the stoma and into the bowel to flush out its contents through the anus.

Colostomy or ileostomy

A colostomy involves diverting a section of the colon so that it connects to a stoma, which is attached to a pouch. The pouch collects stools.

If the diversion is at the end of the small intestine, the procedure is called an ileostomy.

A child with spina bifida may need help from a number of specialists, including a pediatrician, a neurosurgeon, a urologist, and an orthopedist.

A routine ultrasound scan detects most cases of spina bifida during pregnancy. Various prenatal tests are also available, but they are not 100% accurate.

Maternal serum alpha-fetoprotein (MSAFP) test

This is a blood test that assesses for alpha-fetoprotein (AFP), a protein that the fetus produces.

AFP does not usually enter the mother’s bloodstream. If it does, it usually means the fetus has abnormally high levels and probably a neural tube defect. This could indicate anencephaly, an incomplete skull and underdeveloped brain, or spina bifida.

Sometimes, AFP levels are normal but the fetus has spina bifida. In other cases, AFP levels are high but the fetus is healthy.

If AFP levels are high, the doctor will order another blood test. If they are still high, the doctor will recommend further tests to identify the reason.

AFP levels may also be high if:

  • there is more than one fetus
  • there has been a miscalculation of gestational age

Other tests

Other tests during pregnancy are the triple screen or quadruple (quad) screen. These test for three or four substances in the blood.

If the ultrasound scan is normal but AFP levels are high, the doctor may recommend amniocentesis. A sample of fluid is removed from the amniotic sac and tested for AFP levels. If the fetus has a neural tube defect, there will be will high levels of AFP in the amniotic fluid that surrounds them.

Scientists do not know precisely what causes spina bifida. It is most likely due to a combination of inherited (genetic), environmental, and nutritional factors.

Folic acid

Spina bifida appears to be more likely if the mother does not have enough folic acid during the pregnancy.

Since the introduction of folic acid recommendations in the U.S. in 1992, the number of births involving neural tube defects has fallen.

Plant proteins, iron, magnesium, and niacin

A low intake of these nutrients before conception may increase the risk of neural tube defects significantly.

Family history

If an infant is born with spina bifida, there is a higher chance that a future sibling will have the same condition.

Medications

Drugs such as valproate, used to treat epilepsy or bipolar disorder, have been associated with a higher risk of babies being born with congenital defects, such as spina bifida.

Diabetes

A female with diabetes is more likely to have a baby with spina bifida than one who does not.

Obesity

A woman whose body mass index (BMI) is 30 or above has a higher risk of having a baby with spina bifida.

Since the cause of spina bifida is unknown, it is difficult to prevent it, but folic acid and tests during pregnancy can help.

Folic acid

During their reproductive years, females should consume 400 micrograms (mcg) a day of folic acid.

Sources include:

  • dark green, leafy vegetables
  • egg yolks
  • some fruits
  • fortified cereal products

Females who are pregnant or trying to become pregnant should take a 400 mcg folic acid supplement daily.

If a female who has spina bifida or who has a child with the condition, a doctor may recommend taking extra folic acid before conceiving again.

Tests

Undergoing tests for neural tube defects and other problems during pregnancy can also reduce the risk and enable people to take early action.

In the past, spina bifida was considered life-threatening, but most people born with it now survive well into adulthood. A considerable number live independently.

Most children with spina bifida have normal intelligence, can walk, and attend a mainstream school, but some need extra support.

For those who need more information about spina bifida, the National Institute of Neurological Disorders and Stroke (NINDS) provide a list of useful organizations for contact for information, support, and research programs.