Spina Bifida

Signs and Symptoms

Symptoms of spina bifida depend on the type of the disease and how severely the spinal cord and surrounding nerves are affected.

Spina bifida occulta is the mildest form of the disease. It occurs when one or more vertebrae are malformed. However, the spinal cord and its covering are undamaged and the condition typically does not cause disability or symptoms. About 5 percent to 10 percent of the population may have spina bifida occulta, but are unaware of it. In many cases, the only visible symptoms babies have are an abnormal tuft of hair, birthmark or dimple at the defect.

Spina bifida meningocele is a more severe form of the disease. It occurs when the meninges—the membranes that cover and protect the spinal cord—protrude from the spinal opening and form a fluid-filled sac visible on a babys back, which may be covered by a thin layer of skin. Babies may have few or no symptoms, while others may experience complications, such as partial paralysis and urinary and bowel dysfunction.

Spina bifida myelomeningocele is the most severe form of the disease. It occurs when the meninges and the spinal cord are exposed through the opening in the spine. Babies born with this condition may develop a variety of health problems, including partial or complete paralysis below the spinal cord, urinary and bowel dysfunction, hydrocephalus or excessive fluid in the brain and mental retardation, as well as impaired educational, social and psychological development.

Women who are pregnant with a fetus affected with spina bifida don't experience symptoms. However, there are several tests available to pregnant women that detect spina bifida before a baby is born.

Diagnosis

Prenatal Testing

The following prenatal tests are available to pregnant women to detect spina bifida before their babies are born.

This simple blood test is performed between the 15th and 20th weeks of pregnancy. It measures the levels of alpha-fetoprotein (AFP), a protein released by the baby's liver and found in the mothers blood, as well as human chorionic gonadotropin (hCG), a hormone produced during pregnancy, and estriol, another hormone produced in significant amounts during pregnancy. Abnormal results of the AFP test may indicate a spinal cord defect, such as spina bifida. It may also indicate fetal brain defects, multiple fetuses, a miscalculated due date or Down syndrome.

Typically, AFP screening is performed by a womans obstetrician. If test results are high, the test may be repeated to confirm. If test results still indicate a potential risk for spina bifida or other birth defects, patients may be referred to the UCSF Prenatal Diagnosis Center for follow-up testing.

Ultrasound—This harmless, non-invasive test uses high-frequency sound waves to create images of the fetus. It may detect a spinal cord defect caused by spina bifida or discover other reasons for high levels of alpha-fetoprotein (AFP).

Amniocentesis—This test is performed between the 15th and 20th weeks of pregnancy. The test may be recommended to women who have high levels of alpha-fetoprotein (AFP) that could not be explained by an ultrasound. During the procedure, a small sample of the amniotic fluid surrounding the fetus is obtained. Higher than average levels of AFP in the fluid may indicate spina bifida or other birth defects.

If spina bifida is mild, it may not be detected until after a baby is born. Imagining tests such as magnetic resonance imagining (MRI) or computed tomography (CT) scan may be used to detect any abnormalities in the babys spine or vertebrae.

If hydrocephalus—a condition in which excessive fluid accumulates in the brain—is suspected, a CT scan and/or Ultrasound of the babys brain may be conducted.

Treatment

Currently, there is no cure for spina bifida, but there are a number of treatments available to help manage the disease and prevent complications.

Initial goals of treatment include reducing neurological damage to your child, minimizing complications such as infections and helping your family learn about and cope with the disorder.

Treatment may include ongoing surgery, medications, physical therapy and behavioral therapy, and depends on the type and severity of the defect, the childs age and overall health as well as their personal preferences.

Children with the mildest form of the disease, spina bifida occulta, usually do not require treatment. Children with spina bifida meningocele can typically be treated without surgery. However, these children may develop complications, such as bladder problems and hydrocephalus that occurs when excess fluid collects in the brains ventricles. If untreated, it may cause motor or movement disorders or mental retardation. Fluid can be drained from the brain through a surgical procedure that uses a special tube called a shunt. The shunt runs under the skin into the abdomen and the fluid passes into the child's body without harm.

Myelomeningocele, the most severe form of spina bifida, generally requires surgery to correct the spinal defect and prevent infections, as well as further injury or trauma to the exposed spinal cord and nerves. Pediatric surgeons at UCSF Children's Hospital are involved in a five-year clinical trial, sponsored by the National Institutes of Health (NIH), to study surgery before birth as well as surgery after birth to determine the best treatment for spina bifida. For more information about this study, visit this Web site. The study is slated to continue through 2008.

The majority of babies with myelomeningocele also develop hydrocephalus, which requires treatment. Children with this form of spina bifida may also develop a progressive tethering of the spinal cord, in which the spinal cord and vertebrae do not stretch and grow normally as the child grows. This may cause loss of muscle function to the legs, bowel and bladder. Surgery on the spinal cord may be performed to help restore function. Children with bladder function problems are treated by a urologist, who may suggest catheterization, involving a small tube inserted into the bladder to help drain urine.

Many children with spina bifida experience partial or complete paralysis and require devices such as braces, crutches or wheelchairs. These children work with specialists in orthopedics and physical therapy to learn special muscle strengthening exercises. Some children may also need surgery on the hips, legs and feet.

Many children with spina bifida develop an allergy to latex, or natural rubber, which may be caused by early exposure during surgeries and medical procedures. If your child is affected by this allergy, avoid exposing them to latex products, such as baby bottle nipples, pacifiers and balloons. There are latex-free options for many products.