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Spina Bifida

What is spina bifida?

Spina bifida, is a neural tube birth defect in which there is abnormal development of the back bones, spinal cord, surrounding nerves and the fluid-filled sac that surrounds the spinal cord. This neurological condition can cause a portion of the spinal cord and the surrounding structures to develop outside, instead of inside, the body. The defect can occur anywhere along the spine, with 85 percent of the defects occurring in the lower back and the remainder in the upper back and neck. Although the original defect can be repaired by a CHOC neurosurgeon, the nerve damage that is caused by the defect will remain. Generally, the higher up towards the child’s head the original defect occurs, the more severe the effects.

Spina bifida is an incurable, condition that affects the neuromuscular and neuroskeletal systems of the body. Children with spina bifida often require lifelong medical care as the condition’s effects can change throughout their lifetime.

At CHOC, our treatment focuses on preventing and minimizing complications and conditions common with a diagnosis of spina bifida and helping children live as normal of a life as possible.

What are the types of spina bifida?

The types of spina bifida include the following:

Spina bifida occulta is a mild form of spina bifida in which the spinal cord and the surrounding structures remain inside the baby, but the back bones in the lower back area fail to form normally. There may be a hairy patch, dimple, or birthmark over the area of the defect. Other times, there may be no abnormalities in the area.
In spina bifida occulta (as well as in other forms), there may be an associated tethering of the spinal cord, called tethered cord. In a tethered cord the lower end of the spinal cord stays attached to the base of the spine, rather than riding freely within the spinal canal.
The tethered cord may not be diagnosed at birth and frequently causes no symptoms, although symptoms can develop later on in life. If may be required to release the tethered spinal cord or to repair orthopedic defects.
Meningocele is a moderate form of spina bifida in which a fluid-filled sac is visible outside of the back area. The sac does not contain the spinal cord or nerves. Most children with meningocele have normal function in their legs, although some will have partial paralysis as well as urinary and/or bowel dysfunction. In meningocele, the spinal cord is frequently tethered. Almost all children with meningocele will require surgery to repair the sac and release the tethering.
Lipomeningocele is a variation of meningocele spina bifida in which a fatty mass (lipoma) is attached (tethered) to the spine and pulls on it. The tethering can be fixed with surgery. Children with lipomeningocele may experience nerve damage. They may also have urinary and bowel problems.
Myelomeningocele is a severe form of spina bifida in which the spinal cord and nerves develop outside of the body and are contained in a fluid-filled sac that is visible outside of the back area. These babies typically have weakness and loss of sensation below the defect. Problems with bowel and bladder function are also common. A majority of babies with myelomeningocele will also have hydrocephalus, a condition that causes the fluid inside the head to build up, causing pressure inside of the head to increase and the skull bones to expand to a larger than normal size.

What causes spina bifida?

Spina bifida is a type of neural tube defect. Neural tube defects, including spina bifida (open spine) and anencephaly (open skull), are seen in seven out of 10,000 live births in the United States.

During pregnancy, the human brain and spine begin as a flat plate of cells, which rolls into a tube, called the neural tube. If all or part of the neural tube fails to close, leaving an opening, this is known as an open neural tube defect (or ONTD). This opening may be left exposed (80 percent of the time), or covered with bone or skin (20 percent of the time).

Anencephaly and spina bifida are the most common types of ONTD. Spina bifida occurs when the neural tube fails to close somewhere along the spine.

In over 95 percent of cases, an ONTD occurs without a prior family history of these defects. ONTDs result from a combination of genes inherited from both parents, coupled with environmental factors. For this reason, ONTDs are considered multifactorial traits, meaning “many factors,” both genetic and environmental, contribute to their occurrence.

Some of the environmental factors that may contribute to ONTDs include obesity, uncontrolled diabetes in the mother, lack of folic acid in mother’s diet during pregnancy and certain prescription medications. According to the Centers for Disease Control and Prevention (CDC), the occurrence rate of ONTDs can vary from state to state and from country to country.

ONTDs are seen five times more often in females than males. Once a child with an ONTD has been born in the family, the chance for an ONTD to occur again is increased to 4 percent. It is important to understand that the type of neural tube defect can differ the second time. For example, one baby could be born with anencephaly, while a second baby could have spina bifida (not anencephaly).

What are the symptoms of spina bifida?

The following are the most common symptoms of spina bifida. However, each baby may experience symptoms differently. Symptoms may include:

Abnormal appearance of the baby’s back, varying from a small, hairy patch or a dimple or birthmark, to a sac-like protrusion that is found along the back bone area.
Bowel and bladder problems, including urinary retention, constipation and incontinence.
Loss of feeling below the area of the lesion, especially in babies born with a meningocele or myelomeningocele.
Inability to move the lower legs (paralysis).

The children may also have other problems related to spina bifida that include the following:

Hydrocephalus (increased fluid and pressure in the head area that occurs in about 80 to 90 percent of cases).
Heart problems.
Orthopedic (bone) problems.
Lower than normal intelligence level (although 80 percent of children have normal intelligence).

The symptoms of spina bifida may resemble other conditions or medical problems. Always consult your baby’s physician for a diagnosis.

How is spina bifida diagnosed?

Diagnostic tests can be performed during pregnancy to test whether a fetus has spina bifida. The tests include the following:

Blood tests
The American College of Obstetrics and Gynecology (ACOG) recommends that a blood test be offered between 15 to 20 weeks to all women who are pregnant who have not previously had a child with an open neural tube defect (ONTD) and who do not have a family history of ONTD. This blood test measures alpha-fetoprotein (AFP) levels and other biochemical markers in the mother’s blood to determine whether her pregnancy is at increased risk for an ONTD. AFP is a protein normally produced by the fetus that crosses the placenta into the mother’s blood. Generally, if a fetus has an ONTD, the alpha-fetoprotein level in the mother’s blood will be increased. Although this test does not tell for certain whether a fetus has an ONTD, it will determine which pregnancies are at greater risk, so that additional testing may be performed.
Prenatal ultrasound
Ultrasound is a diagnostic imaging technique that uses high-frequency sound waves and a computer to create images of blood vessels, tissues and organs. Ultrasounds are used to view internal organs as they function and to assess blood flow through various vessels. Prenatal ultrasound may be able to detect an ONTD and to examine other organs and body systems of the fetus.
Amniocentesis
This procedure involves inserting a long, thin needle through the mother’s abdomen into the amniotic sac to withdraw a small sample of the amniotic fluid for examination. The fluid is then tested to determine the presence of alpha-fetoprotein, which occurs with an open neural tube defect. Small or closed defects may not be picked up by this test.

After birth, the signs and symptoms of spina bifida vary widely, depending on the form of the condition and its severity in the individual child. For example, at birth:

Babies with spina bifida occulta may have no obvious signs or symptoms—just a small, hairy patch, dimple or birthmark.
Babies with meningocele have a sac-like protrusion that is found along the back bone area.
Babies with myelomeningocele have an exposure of the nerves and spinal cord.

In severe spina bifida, symptoms related to nerve damage in the lower spine include:

Loss of sensation and movement in the legs and feet (paralysis)
Poor bladder control (incontinence)
Urinary retention
Poor bowel control (constipation and incontinence)

How is spina bifida treated?

The primary goal of managing spina bifida is to prevent infection and to preserve the spinal cord and nerves that are exposed outside of the body. Specific management of spina bifida will be determined by the baby’s physician based on:

The baby’s gestational age, overall health and medical history.
The extent and type of spina bifida
The baby’s tolerance for specific medications, procedures or therapies.
Expectations for the course of spina bifida.
The family’s opinion or preference.

A cesarean delivery is often performed to decrease the risk of damage to the spinal cord that may occur during a vaginal delivery. Babies born with a meningocele or a myelomeningocele usually require care in the neonatal intensive care unit (NICU) for evaluation and for surgery to close the defect. Surgery can help manage the problems, but it cannot restore muscle function or sensation to a normal state. Surgical interventions may be needed for the following:

Repair and closure of the lesion
Treatment of hydrocephalus
Repair of tethered cord
Revision of shunts
Orthopedic problems
Bowel and bladder problems

Not all babies will require surgical repair of spina bifida. Non-surgical management of spina bifida may include:

Rehabilitation
Positioning aids (used to help the child sit, lie, or stand)
Braces and splints (used to prevent deformity, promote support or protection)
Medical Management

Living with Spina Bifida

Spina bifida is an incurable, life-long condition. At CHOC, we work with patients and their families to prevent or minimize each patient’s deformities and maximize the child’s capabilities at home and in the community.

With excellent treatment and care, children with spina bifida can become active, productive people with normal or near-normal life spans. A great deal of each child’s potential for physical functioning—including standing and walking—depends on his or her neurological status. There are many ways children can lead an independent, productive lives with the complications of spina bifida. Some children with spina bifida may have a lower intelligence, have difficulty or be unable to walk, have compromised or lack of function of their bladder and bowels.

As children with spina bifida grow, certain problems associated with spina bifida can cause a deterioration of their ability to function. CHOC Spina Bifida team will work closely to monitor for such problems and work to prevent them. Our team will surgically address deterioration that can be caused by:

Hydrocephalous: A condition in which increased fluid and pressure occurs in the brain. This condition takes place occurs in about 75 percent of cases of myelomeningocele and requires surgery to restore normal fluid circulation or to place a permanent shunt to help drain fluid from the brain
Syringomyelia: A fluid-filled sac within the spinal cord that can cause spasticity (to have spasms, which are involuntary muscle movements), loss of muscle mass (atrophy) or scoliosis.
Tethered cord: A condition in which the spinal cord attaches to scar tissue at spina bifida repair site. This condition can worsen paralysis, as well as bowel and bladder function. It can also lead to curvature of the spine (scoliosis) and back pain.

Medically and/or psychologically the following issues will be followed, which can also contribute to a deterioration of your child’s ability to function:

Chiari II malformation: A displacement of the brain into the upper spinal column. This condition may cause pressure on the brain stem and can result in vocal cord weakness, swallowing disturbances, arm weakness and/or involuntary movements (spasms) in the child’s legs.
Orthopedic (bone) problems: These can include scoliosis, kyphosis, hip dislocation, joint deformities, clubfeet, contracted muscles and weaker than normal bones.
Obesity: Children with weight problems can lead to further decreased mobility, skin breakdown, loss of muscle tone, diabetes, heart disease, stroke, sleep apnea and inability to perform certain necessary surgeries.
Psychological problems: These problems can include depression, anxiety, low self-esteem, difficulties with others.
Learning problems: Learning problems can include difficulties with organization, problem solving and focus, as well as low IQ.
Latex allergy: Children with spina bifida are at a higher risk for latex allergy. Families should pay close attention to latex avoidance in the hospital and at home.
Precocious puberty: Children with spina bifida and hydrocephalus—especially girls—are likely to begin sexual changes early.
Urinary tract disorders: Children with spina bifida often have problems with their bowel and bladder function. Learn more about urology concerns for children with spina bifida.
Heart problems
Vision problems

It’s important for families to work with their child’s team to help spot any new symptoms or and loss of their ability to function. Throughout the child’s life, periodic surgery, medical care and therapy may be necessary to prevent functional deterioration and manage their complications.

Pediatric Urology and Spina Bifida

Children with spina bifida receive treatment for urological conditions. The CHOC Urology Center’s team of specialists focus on the bowel and bladder functions of spina bifida patients, as well as the safety of their urinary tract (kidneys, ureters, bladder and urethra) using ultrasounds, VCUGs and video urodynamics. The most common diagnoses in spina bifida patients include hydronephrosis, urinary tract infections and vesicoureteral reflux. They may also have difficulty or be unable to void independently due to nerve damage that causes malfunctioning bladders and bowels and possible retention. This is called neurogenic bladder and bowel.

Most children with spina bifida begin clean intermittent catheterization (CIC) shortly after birth to assist them in emptying their bladder completely. CIC relieves urinary retention and keeps the bladder and the kidneys at a low pressure thus reducing the chances of damage to the urinary tract. It is common for children to begin taking medication directly after birth to help relax the bladder muscle. Most children with spina bifida within the clinic will remain on CIC and medication treatment while being seen in our clinic. Some children will additionally need to keep a catheter in their bladder overnight. These catheters have a small balloon on them to allow the bladder to remain in the bladder, they are called foley catheters.

Children who have recurrent urinary tract infections may be placed on behavioral modifications, prophylactic antibiotics or gentamicin washes for their bladders.

Some children will require surgeries during their childhood to help relieve complications that arise. Some of the more common urological surgeries completed in children with spina bifida are:

Bladder augment: A surgery using a portion of the intestines (occasionally other tissues may be used instead) to enlarge the size of a bladder. Following bladder augments a child and their family will be instructed on how to irrigate their augment to reduce their changes of urinary tract infections and reduce the amount of mucous produced. Learn more about irrigating the bladder.
Vesicostomy: A surgery to create an opening in the abdomen from the bladder that allows urine to freely drain.
Mitrofanoff: A surgery to create a catherizable channel in the abdomen to allow for catheterization of the bladder to empty urine.
ACE/ MACE: A surgery to create a continent outlet for a catheter or enema insertion to allow for evacuation of stool from the large intestines.

Important Instructions for Spina Bifida Care

Parents and guardians of children with spina bifida may be asked to perform a number of different procedures to assist their children with their urinary tract needs. Click here for the forms and instructions that may be helpful for families.

Parents and guardians of children with spina bifida may be asked to perform a number of different procedures to assist their children with their urinary tract needs. Below are forms and instructions that may be helpful for families.

Spina Bifida Prevention and Future Pregnancies

Because the neural tube closes 28 to 32 days after conception and before many women are aware they are pregnant, normal development of the brain and spinal cord may be affected during these first three to eight weeks of pregnancy by the following:

Genetic problems
Exposure to hazardous chemicals/substances
Lack of proper vitamins and nutrients in the diet, especially folic acid
Infection
Prescription drug and alcohol consumption

Although there are many factors related to the development of spina bifida, research has found that folic acid (vitamin B-9), a nutrient found in some green, leafy vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals, can help reduce the risk of neural tube defects. For this reason, the American College of Medical Genetics (ACMG) and the Centers for Disease Control and Prevention (CDC) recommend that all women of childbearing age take a multivitamin containing folic acid. If a couple has had a previous child with an open neural tube defects (ONTD), a larger amount of folic acid is recommended and can be prescribed by the woman’s physician or healthcare provider. This allows the woman to take it for one to two months prior to conception, and throughout the first trimester of pregnancy, to reduce the risk of another child with ONTD. Current research is focused on looking at how genes control the formation of the neural tube. Understanding this will assist in the prevention of neural tube defects.

Additional risk factors include:

Maternal age: Spina bifida is more commonly seen in teenage mothers.
History of miscarriage.
Birth order: First-born infants are at higher risk.
Socioeconomic status: Children born into lower socioeconomic families are at higher risk for developing spina bifida. It is thought that a poor diet, lacking essential vitamins and minerals, may be a contributing factor.

In recent years, pioneer surgeons have developed an experimental technique for performing surgery prenatally to correct this condition before birth. The surgery, used in a research setting and performed between weeks 19 and 25 of pregnancy, was first supported by the March of Dimes. Currently, the National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH), is conducting a clinical trial to determine whether carrying out the procedure prenatally leads to an overall improvement for these children – with acceptable risks.

Future pregnancies

Parents who have given birth to a child with spina bifida or other ONTD may have genetic counseling recommended by their physician to discuss the risk of recurrence in a future pregnancy, as well as vitamin therapy (a prescription for folic acid) that can decrease the recurrence risk for ONTD. Supplemental folic acid, a B vitamin, if taken one to two months prior to conception and throughout the first trimester of pregnancy, has been found to decrease the reoccurrence of ONTDs for couples who have had a previous child with an ONTD.