General Neurology
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May. 23, 2024
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Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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Spina bifida is a birth disorder that involves the incomplete development of the spine. In the first month of pregnancy, a special set of cells forms the “neural tube;” the top of the tube becomes the brain, and the remainder becomes the spinal cord and structures around it. In spina bifida, the neural tube doesn’t close completely and some of the bones of the spine do not close in the back. This can result in an opening anywhere along the spine and may cause damage to the spinal cord and nerves.
The term "neural tube defect" describes a group of conditions, including spina bifida, that usually occur very early in pregnancy when the neural tube does not form as expected.
Often, abnormalities of the brain accompany abnormalities of the spine because the neural tube closes first in the middle and then closure proceeds both upward and downward, meaning that if something happens that prevents formation of the spine, it may also prevent formation of the part of the brain that is forming (closing) at the same time.
An infant born with spinal bifida may have nerve damage below the affected area of the spinal cord. Some will have learning disabilities or intellectual disabilities. There is no cure but most people with spina bifida lead long lives. People with spina bifida have different abilities and medical issues.
Types of spina bifida. There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and myelomeningocele. The symptoms of spina bifida vary from person to person, depending on the type and level of involvement. Most cases are mild and do not require special treatment. The more serious cases involve nerve damage.
Complications of spina bifida may include:
Other complications seen in people with myelomeningocele and neural tube defects as they age may include:
Who is more likely to get spina bifida?
Each year approximately 1,400 babies born in the U.S. have spina bifida, according to the U.S. Centers for Disease Control and Prevention (CDC). The exact cause of spina bifida is unknown but scientists suspect genetic, nutritional, and environmental factors all play a role in its development.
How is spina bifida diagnosed and treated?
Diagnosing spina bifida. In most cases, spina bifida is diagnosed before birth (prenatal). However, some mild cases may go unnoticed until after birth (postnatal). Very mild forms of spinal bifida are found when doing tests for other conditions or may never be detected.
Prenatal Diagnosis
The most common screening methods to look for spina bifida during pregnancy are maternal serum alpha fetoprotein (MSAFP) screening and fetal ultrasound. A doctor can also perform an amniocentesis test.
Postnatal Diagnosis
Closed neural tube defects are often spotted at birth due to an abnormal fatty mass, tuft or clump of hair, or a small dimple or birthmark on the skin at the site of the spinal malformation. Spina bifida occulta is usually found when x-rays are done for another reason.
In rare cases, myelomeningocele and meningocele are not diagnosed during routine prenatal tests. The baby will be diagnosed when it is born with a bubble on its back. Babies with myelomeningocele and closed neural tube defects may have muscle weakness in their feet, hips, and legs that result in joint deformities first noticed at birth. Mild cases of spina bifida (occulta and closed neural tube defects) that are not diagnosed during prenatal testing may be detected postnatally using ultrasound or X-ray imaging to look at the spine.
Doctors may use magnetic resonance imaging (MRI) or a computed tomography (CT) scan to get a clearer view of the spinal cord and vertebrae. To evaluate for hydrocephalus, the doctor will request a head ultrasound, CT, or MRI to look for extra cerebrospinal fluid inside the brain.
Treating Spina Bifida. Treatment depends on the type of spina bifida. Myelomeningocele and meningocele require surgery to close the bubble shortly after birth to prevent infection such as meningitis. Most people with myelomeningocele have hydrocephalus and most of them will need a shunt placed as an infant. Children with a closed neural tube defect may need surgery to prevent further complications such as weakness and bowel and bladder function. Generally, people with spina bifida occulta will not need any treatment.
Prenatal Surgery
Prenatal surgery involves opening the mother's abdomen and uterus (or womb) and sewing the abnormal opening over the developing baby's spinal cord so that it is closed. This can protect the baby's spinal cord from ongoing damage in the uterus.
The Management of Myelomeningocele Study (MOMS) showed that prenatal surgery to close the defect in the spinal cord improved outcomes compared to children who had postnatal surgery for spina bifida. Prenatal surgery reduced the need to drain fluid from the brain, improved mobility, and increased the chances that a child will be able to walk independently early on. This study was funded by the National Institutes of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Surgery does not restore lost neurological function but may prevent additional damage during the rest of the pregnancy. Prenatal surgery poses some risk to the fetus as well as to the mother.
Postnatal Surgery
In treating myelomeningocele and meningocele, a child who has not had prenatal surgery will have surgery within the first few days of life to close the defect and minimize the risk of infection or further trauma to the exposed nerves and spinal cord.
Tethered cord syndrome can be treated with surgery to help prevent further neurological deterioration.
Treatments for Complications
Some children with myelomeningocele and closed neural tube defects will need surgery to improve the alignment of their feet, legs, or spine. Children with myelomeningocele usually have hydrocephalus and may require surgery to help drain fluid in the brain, such as the placement of a shunt or ETV. Multiple surgeries may be required to replace the shunt, which may become clogged, infected, or disconnected.
Some individuals with myelomeningocele or closed neural tube defects require assistive devices for mobility such as:
Children with myelomeningocele usually have some degree of delayed mobility, so they are referred to physical therapists early on to maximize their strength and function.
Treatment for bladder and bowel dysfunction typically begins soon after birth. Children with myelomeningocele and some closed neural tube defects have damage to the lowest spinal nerves which control typical bowel and bladder function. Kidneys are monitored closely so that medications or surgeries can be performed to prevent renal failure. Close follow-up with a spina bifida specialty clinic is recommended to develop a safe bowel and bladder program.
Folic Acid—Folic acid (folate) is an important vitamin for the development of a healthy fetus. Although taking this vitamin cannot guarantee having a healthy baby, it can help. Studies show that women of childbearing age who add folic acid to their diets can significantly reduce the risk of having a child with a neural tube defect. Doctors recommended that all women of childbearing age take a daily vitamin supplement with 400 micrograms of folic acid before and during early pregnancy.
Females who already have a child with spina bifida, who have spina bifida themselves, or who have already had a pregnancy affected by any neural tube defect are at greater risk of having another child with a neural tube defect. They should take a higher prescription dose of folic acid before and early in pregnancy.
Foods that are high in folic acid include:
Many foods—such as some breakfast cereals, enriched breads, flours, pastas, rice, and other grain products—are now fortified with folic acid. Many multivitamins contain the recommended dosage of folic acid as well.
What are the latest updates on spina bifida?
The National Institute of Neurological Disorders and Stroke (NINDS), one of the National Institutes of Health (NIH), is a primary federal supporter of research on brain and nervous system disorders. In addition to NINDS, other NIH Institutes support research on spina bifida and neural tube defects.
Genetic studies. In one study supported by NINDS, scientists are looking at the hereditary basis of neural tube defects and hope to find the genetic factors that make some children more likely to have a neural tube defect. These researchers are also studying gene expression during the process of normal neural tube closure, which will provide information on the human nervous system during development.
In addition, NINDS-supported scientists are working to identify, characterize, and evaluate genes involved in neural tube defects. The goal is to understand the genetics of neural tube closure and to develop information that will lead to improved clinical care, treatment, and genetic counseling.
Other scientists are studying genetic risk factors for spina bifida, especially those that reduce the effectiveness of folic acid in preventing spina bifida. This study will shed light on how folic acid prevents spina bifida and may lead to improved forms of folate supplements.
Developmental studies. NINDS supports and conducts a wide range of basic research studies to understand how the brain and nervous system develop. These studies contribute to a greater understanding of neural tube defects such as spina bifida and offer hope for new ways to treat and potentially prevent these disorders as well as other birth defects.
Surgery. Results of the Management of Myelomeningocele Study (MOMS) showed significant benefit to the developing baby. Because fetal surgery has shown promise, NINDS-funded researchers are also developing new methods, such as stem cell patches and tissue engineering, to add to the prenatal repair of spinal defects.
More research efforts. More information about research on spina bifida can be found using NIH RePORTER, a searchable database of current and past research projects supported by NIH and other federal agencies. RePORTER also includes links to publications and resources from these projects.
How can I or my loved one help improve care for people with spina bifida?
Consider participating in a clinical trial so clinicians and scientists can learn more about spina bifida. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with spina bifida at Clinicaltrials.gov, a database of current and past clinical studies.
Where can I find more information about spina bifida?
Information may be available from the following organizations:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Phone: 800-370-2943 or 888-320-6942
March of Dimes
Phone: 914-997-4488 or 888-663-4637
Spina Bifida Association
Phone: 202-944-3285 or 800-621-3141
Content source: https://www.ninds.nih.gov/health-information/disorders/spina-bifida Accessed July 17, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.
MedLink®, LLC
3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122
Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125