- What Is/Types
- How to Prevent
- Life Expectancy
- Support Group
What Is Spina Bifida?
Spina bifida (“cleft spine”) is a birth defect affecting the spinal column. Spina bifida progresses from a cleft, or splitlike opening, in the back part of the backbones (the spinal vertebrae). In more severe cases, it involves the spinal cord. Spina bifida is the most common of a group of birth defects known as neural tube defects, which affect the central nervous system (brain and spinal cord).
Spina bifida begins in the womb, when the tissues that fold to form the neural tube do not close or do not stay closed completely. This causes an opening in the vertebrae, which surround and protect the spinal cord. This occurs just a few weeks (21 to 28 days) after conception—usually before the woman knows that she is pregnant. There are 3 types of spina bifida.
- Spina bifida occulta: “Occulta” means hidden, and the defect is not visible. Spina bifida occulta is rarely linked with complications or symptoms. Spina bifida occulta is usually discovered accidentally when the person has an x-ray or MRI for some other reason. The prevalence of occulta is not known, but it is probably the most common type of spina bifida.
- Meningocele: The membrane that surrounds the spinal cord may enlarge, creating a lump or “This is often invisible through the skin and causes no problems. If the spinal canal is cleft, or “bifid,” the cyst may expand and come to the surface. In such cases, since the cyst does not enclose the spinal cord, the cord is not exposed. The cyst varies in size, but it can almost always be removed surgically if necessary, leaving no permanent disability. This is an uncommon type of spina bifida.
- Spina bifida cystica (myelomeningocele): This is the most complex and severe form of spina bifida. Spina bifida cystica usually involves neurological problems that can be very serious or even fatal. A section of the spinal cord and the nerves that stem from the cord are exposed and visible on the outside of the body. Or, if there is a cyst, it encloses part of the cord and the nerves. This condition, which was documented 4000 years ago, accounts for most cases of true spina bifida.
The term “spina bifida” often is used interchangeably with myelomeningocele, since this is the type of spina bifida that causes the vast majority of disability. Fortunately, surgery is an effective treatment in most people with spina bifida. Most infants with an open spine or myelomeningocele undergo surgery within the first 48 hours of life to close the defect. Antibiotics are given to prevent infection of the exposed spinal cord and nerves until these structures can be protected by surgery.
Before antibiotics were available, most children born with myelomeningocele died soon after birth. Those who survived were severely disabled. With modern treatment, almost all children with myelomeningocele survive and most are able to live productive lives with some degree of independence. Even with these treatments, however, most have some degree of permanent leg paralysis and often difficulties with bowel and bladder function. The extent of paralysis depends on which part of the spinal cord is involved. The higher the defect on the body, the more severe the paralysis. Most myelomeningoceles occur in the lumbar (lower back) and sacral (tailbone) regions of the spine.
Spina bifida is one of the most common severe birth defects, historically occurring in 1 live birth per 1000 in the United States. The rates of spina bifida are higher in Hispanics and whites of European descent than in Ashkenazi Jews, Asians, and African Americans. Rates are also higher among mothers with certain health problems, such as diabetes or seizure disorders (taking certain anticonvulsants), and significantly higher among couples in which at least one has spina bifida, and among couples who have already had a child with spina bifida.
The outlook for spina bifida has improved remarkably in the last decade. Not only have advanced surgical techniques improved quality of life for people born with spina bifida, but evolving approaches to early diagnosis have even opened the possibility of corrective surgery while still in the womb. Furthermore, studies completed in the 1990s showed that as many as 70% of cases of neural tube defects could be prevented by adequate intake of folic acid immediately before and in early pregnancy. A rigorous program of public education and fortification of popular foods with folic acid in the United States has decreased the rate of neural tube defects in just a few years.
What Causes Spina Bifida?
Both genetic factors (heredity) and environmental factors, such as nutrition and exposure to harmful substances, probably contribute to spina bifida. Spina bifida does seem to run in families, although with mixed patterns of inheritance. Having a child with spina bifida increases the chance that another child will also have spina bifida by 8 times. In about 95% of cases of spina bifida, however, there is no family history of neural tube defects.
Research has suggested that many cases of spina bifida can be prevented by adequate intake of folic acid (folate) before and during early pregnancy. However, people with spina bifida appear to have abnormal metabolism of folic acid. This suggests that the underlying problem in spina bifida may be an inborn defect in folic acid metabolism rather than a simple deficiency in this nutrient.
What Are the Symptoms of Spina Bifida?
Meningocele and myelomeningocele are evident at birth. Other than the obvious spinal cord deformity, symptoms are caused by complications of spina bifida. The most common complications include the following:
- People with spina bifida occulta are almost always completely asymptomatic.
- Even after one or more operations to correct the defects, some disability almost always remains. Various degrees of leg paralysis, spine curvature (scoliosis), hip, foot, and leg deformities, and problems with bowel and bladder control are the most common residual disabilities.
- Abnormalities at the lower spine are always accompanied by upper spine abnormalities (Arnold-Chiari malformation), causing subtle coordination problems that usually can be improved by physical therapy.
- Spine, hip, foot, and leg deformities are often due to imbalances in muscle strength and function resulting mostly from residual paralysis, but with a spasticity component.
- The most common bladder and bowel problems are inability to voluntarily relax the muscles (sphincters) that hold urine in the bladder and stool in the rectum.
- Hydrocephalus (accumulation of fluid in the brain) is another common residual problem, affecting most people with spina bifida. Having some fluid around the brain is normal and healthy, but in spina bifida the fluid often cannot drain naturally. Without treatment, this extra fluid can cause neurological problems or mental retardation; however, these individuals are of normal intelligence if their hydrocephalus is treated aggressively. Hydrocephalus often recurs gradually after treatment.
- Many children with myelomeningocele have or develop a tethered spinal cord. The cord is attached to surrounding tissues and cannot move up and down freely as it normally does. This can cause foot or leg deformities, hip dislocation, or scoliosis. The problems can worsen as the child grows and the tethered cord is stretched.
- Obesity (due to inactivity) and urinary tract disorders (due to poor drainage) are common complications of spina bifida.
- Pathologic bone fractures occur in a significant percentage of people with spina bifida. A pathologic fracture is a break that occurs because of weakness or disease in the bones, not solely because of injury. A very minor injury can worsen a pathologic fracture, causing pain and bringing the fracture to medical attention.
- Growth hormone deficiency resulting in short stature is common in people with spina bifida. On average they are several inches shorter than siblings or peers.
- Although most people with spina bifida have normal intelligence, many have learning disorders. Adequate treatment of hydrocephalus and adaptive physical therapy are necessary to permit access to educational opportunities.
- Psychological, social, and sexual problems occur more often in people with spina bifida than in the general population.
- Allergy to latex (a natural rubber used in medical gloves, some types of elastic, balloons, and many other common items) is very common in people with spina bifida. This is thought to be a result of intense exposure to latex in the early years of life because of frequent surgeries and other medical procedures. An allergic reaction to latex can be life threatening.
Even individuals with no apparent symptoms or disability from spina bifida may have subtle or mild signs or neurological problems. Some, for example, have a dimple, darkening, or small hairy patch on the skin overlying the base of the spine. Others have a fatty growth called an epidural lipoma that forms within the spinal canal; this is usually harmless but may result in tethering of the spinal cord.
What Are the Exams and Tests for Spina Bifida?
For some children, evaluation for spina bifida begins before they are born.
- A prenatal test measures the level of maternal serum alpha-fetoprotein (MSAFP, or AFP), which is unusually high in women carrying a fetus with spina bifida or other neural tube defect.
- This test usually is done as one of 3 tests known together as the “triple screen.” The triple screen includes AFP, ultrasound, and testing of amniotic fluid.
- Any pregnant woman who has a high level of AFP should undergo 2 additional tests that are very accurate in detecting severe spina bifida: ultrasound of the fetal spine and testing of the amniotic fluid for AFP.
- Amniotic fluid is the fluid that surrounds the fetus in the womb. A small amount of the fluid is removed through a large needle and tested in various ways that might indicate abnormalities in the fetus. Removal of amniotic fluid is a safe, routine procedure called amniocentesis.
The evaluation of a child with spina bifida includes the following:
- Thorough analysis of individual medical history (if not newborn), family medical history, and details of the pregnancy and birth.
- Physical examination focusing on neurological deficits, musculoskeletal deformities, and psychological evaluation; in an older child, assessment of developmental, social, and learning disorders.
- Evaluation of critical body systems such as heart, blood circulation, lungs, and kidneys to ensure child’s ability to undergo surgery.
Imaging studies are done as needed to detect new or worsening complications.
- X-rays are used to detect vertebral abnormalities, scoliosis, hip deformities, pathologic fractures, and other bony abnormalities that are common and may or may not cause pain and other symptoms in spina bifida.
- Ultrasound may be used to assess an area of pain that suggests pathologic fracture.
- CT scan of the head is used to evaluate for hydrocephalus.
- MRI provides the best detailed information on spinal cord abnormalities and the extent of cord and nerve root involvement.
Gait analysis is an assessment of the child’s walking skills. Walking involves many different body systems, including the brain, the sensory organs (such as the eyes), the spinal cord and nervous system, the bones and joints of the neck, back, hips, legs, and feet, and the muscles, tendons, and ligaments.
- Gait is a complex activity. It can be impaired by any defect in any of these systems.
- Gait analysis looks at all these systems and their interactions to identify patterns and problems in balance, movement, strength, and coordination.
- The findings of gait analysis can be used to help people with spina bifida improve their ability to walk.
What Is the Treatment for Spina Bifida?
Treatment for spina bifida depends on the severity of the condition.
- Most people with spina bifida occulta require no treatment at all.
- Children with meningocele typically require surgical removal of the cyst and survive with little, if any, disability.
- Children with myelomeningocele, however, require complex and often lifelong treatment and assistance. Almost all of them survive with appropriate treatment starting soon after birth. Their quality of life depends at least partially on the speed, efficiency, and comprehensiveness with which that treatment is provided.
A child born with myelomeningocele requires specialty care.
- The child should be transferred immediately to a center where newborn surgery can be performed.
- Treatment with antibiotics is started as soon as the myelomeningocele is recognized; this prevents infection of the spinal cord, which can be fatal.
- The operation involves closing the opening in the spinal cord and covering the cord with muscles and skin taken from either side of the back. The most common complications are tethered spinal cord and hydrocephalus, which can have very severe consequences.
Each person with severe spina bifida requires intensive and complex care by a trained and coordinated team.
- The care team includes one or more pediatricians, neurologists, neurosurgeons, orthopedic surgeons, physical medicine specialists, endocrinologists, urologists, physical therapists, orthotics specialists, occupational therapists, psychologists, nurses, dietitians, social workers, and other professionals.
- If at all possible, the individual with spina bifida should receive care at a specialized multidisciplinary spina bifida clinic where all necessary services, which are extensive, can be provided in a coordinated and convenient manner. A list of these clinics throughout the United States is available from the Spina Bifida Association of America.
There is no cure for spina bifida. The goal of treatment for spina bifida is to allow the individual to achieve the highest possible level of function and independence. Treatment should address any disability, physical, emotional, or educational, that interferes with that person’s potential
What Is the Medical Treatment for Spina Bifida?
After newborn surgery, children with severe spina bifida undergo regular assessment to detect any deformities, developmental problems, or other complications that may require intervention.
- Children should be watched for signs of hydrocephalus, tethered spinal cord, seizure activity, obesity, bowel and/or bladder control problems, frequent urinary tract infections, learning disorders, emotional and psychosocial problems, and other complications of spina bifida.
- Care at a multidisciplinary spina bifida facility will allow the earliest possible detection of these complications, when treatment is most likely to be effective and prevent further deterioration.
The focus of treatment is developing strength, mobility, and independence. Many of these children will walk. For others, accessibility is the goal.
- Parents should work with a physical therapist to learn how to exercise the baby’s legs to maximize strength and movement. They should begin these exercises as soon after the first surgery as possible. This not only readies the child for walking, but also prevents osteoporosis due to disuse.
- Children with spina bifida should be provided with prolonged physical therapy, physical education, or adaptive training while in school.
- Many children can become mobile by wearing a brace or using crutches or an orthotic. These devices allow the child to function at the best possible level by helping with balance, posture, and control.
- Additional operations may be necessary to correct problems interfering with walking and other functions.
- Despite this assistance, some children with spina bifida will never be able to walk independently. These children will use a wheelchair for the rest of their lives.
Bowel and bladder disorders can cause not only physical problems, but also social problems due to teasing, rejection, and isolation.
- Children can be taught techniques for emptying their bladder and bowels appropriately and independently, thus avoiding embarrassment.
- For example, use of a plastic tube (catheter) to drain urine from the bladder on a regular schedule can help prevent overfilling, which can injure the kidneys. This technique, called clean intermittent catheterization, is of proven benefit in people with spina bifida.
Prevention and treatment of obesity is an important aspect of medical care for the person with spina bifida. Education and counseling concerning physical activity and dietary choices can help maintain weight at a healthy level.
Treatment for other complications of spina bifida depends on the nature of the complications. Medications, surgery, physical therapy, or behavioral therapy may be appropriate.
What Surgery Treats Spina Bifida?
Surgery is the most common treatment for spina bifida and its complications. Most children with severe spina bifida require a series of operations.
- The first, which usually is done in the first 48 hours of the child’s life, involves tucking the exposed spinal cord and nerve roots back into the surrounding membrane, closing the defects in cord and membrane, and covering the wound with muscle and skin flaps taken from either side of the back.
- Subsequent surgeries involve correction of deformities. This might include cutting tendons or ligaments to release contractures and/or rebalancing muscles around the involved joint. When regular examinations indicate that the individual’s functioning is declining while a physical deformity gets worse, surgery should be considered.
Urologic surgery is often necessary, because unresisted contracture limits the ability of the bladder to hold enough urine to space out emptying and may obstruct flow from the kidneys. Untreated, this can lead to kidney failure, which can cause premature death.
In the 1990s, pioneering surgeons developed a technique for repairing the spinal cord while the fetus is still in the womb. The reasoning behind this is that the longer the spinal cord is exposed to outside elements, even in the womb, the greater the possibility for damage to the cord and nerve roots. Thus, earlier surgery could prevent some of the damage that has already occurred by the time the baby is born.
- Preliminary results have been good in that babies who underwent prenatal surgery are less likely than babies who underwent surgery at birth to require a shunt for drainage of hydrocephalus fluid.
- This surgery is not without risk, of course; like any operation, it carries significant risks. This surgery also sharply increases the risk of premature birth, which entails its own set of risks for the baby.
- It is too early to tell yet whether this operation is worth the risks it entails. Researchers are observing the children who have undergone this surgery as they grow, to see whether they do better than children who undergo the conventional surgery.
Hydrocephalus usually is treated by placement of a shunt. A shunt is a special tube surgically placed in the head and under the skin down into the chest or abdomen. The shunt drains excess fluid from the brain into the abdomen, where it can be eliminated without harm.
Other Therapy for Spina Bifida
A child’s emotional and social development can be deeply affected by physical disabilities such as spina bifida. To keep this development on as “normal” a track as possible, these children should be part of the mainstream whenever possible.
- Most of these children can be educated in mainstream schools. They should be evaluated for learning disorders, which can (and must, by federal law) be addressed by the public school system.
- Children should be in the least restrictive environment possible. They should learn skills that help them be as independent as possible.
- They should be encouraged to participate with their peers in age-appropriate activities such as clubs and teams to the best of their abilities.
- Children should take on responsibility for their own care as much as possible.
- After childhood, group homes may be used to train patients with spina bifida to live independently.
What Is the Follow-up for Spina Bifida?
People with spina bifida should be seen frequently by the appropriate professionals so that they can be checked for progressing deformities, disabilities, or complications that may require intervention. A specialized “clinic” can assemble the needed professionals, so parents are not spending all of their time taking the child for medical attention.
- The effectiveness of their physical therapy, including their braces, orthotics, crutches, and wheelchair, should be checked often and changes made if necessary.
- Development of hydrocephalus or worsening of deformities warrants the attention of the appropriate surgeon.
- Medical complications such as obesity or urinary tract infection require appropriate treatment. The goal is to prevent secondary chronic complications such as heart disease, diabetes, and kidney problems.
- The individual’s educational progress should be checked; learning disorders should be addressed with appropriate training.
- Their emotional and social development also needs to be checked and appropriate treatment or counseling offered if needed.
How Can I Prevent Spina Bifida?
The only known way to prevent spina bifida and other neural tube defects is for the mother to have adequate folic acid levels before and during early pregnancy. This does not work in all cases, but studies have shown cases of severe spina bifida could be prevented by adequate folic acid intake.
Folic acid is essential for life.
- The need for folic acid increases during periods of rapid growth, such as development of a fetus in the womb.
- Many breakfast cereals and grain products in the United States are now fortified with folic acid.
- Besides fortified foods, other good sources of folic acid include dark green leafy vegetables (for example, broccoli, spinach, dark green lettuce), egg yolks, beans, whole grains, orange juice, and citrus fruits.
- The average diet in the United States does not include the recommended level of folic acid.
It is very important that folic acid levels be adequate from the very beginning of pregnancy, before a woman even knows that she is pregnant. The critical need for folic acid is in the first 4 weeks of pregnancy. Waiting until she knows she is pregnant to start increasing folic acid intake is not good enough. All women who are able to become pregnant should take a folic acid supplement, even if they are not planning to become pregnant. (Half of all pregnancies in the United States are not planned.) The folic acid may be taken alone or as part of a daily multivitamin.
- Women who do not plan to become pregnant in the near future should take 400 micrograms (mcg) per day. This strength of folic acid is available over the counter without a prescription.
- Women who plan to become pregnant in the near future and have spina bifida themselves, have had a child with spina bifida, or have had a previous pregnancy affected by spina bifida or another neural tube defect should take 10 times this dose (4000 mcg, or 4 milligrams [mg]) for 1-3 months before becoming pregnant. This higher dose is available only by prescription.
- Women should not try to get 4000 mcg of folic acid by taking 10 multivitamins every day. The extra amounts of other vitamins could harm the woman and her fetus.
Studies have suggested that cesarean delivery before labor begins can reduce the severity of paralysis in many babies with spina bifida. Couples who have a prenatal diagnosis of spina bifida for their baby may wish to consider a planned cesarean delivery.
What Is the Outlook for Spina Bifida?
The outlook for any individual with spina bifida depends on the number and severity of complications. For more information about complications, see Spina Bifida Symptoms.
With appropriate, coordinated multidisciplinary care, most children with spina bifida survive well into adulthood. Most live within the mainstream of society and are capable of living productive and happy lives.
Are there Support Groups and Counseling for Spina Bifida?
Clearly, children with spina bifida have very substantial problems. They will always be different from healthy children. Most children with spina bifida have the potential to learn, achieve, succeed, and create a happy life for themselves, but not without effort. They need the help of their families. Having a child with spina bifida brings many challenges. It is understandable, then, that parents and siblings of a child with spina bifida have significant stress. You may feel guilt, anger, anxiety, and/or hopelessness. You may feel alone and uncertain about what you should do.
Parents and siblings can help, but you need to have appropriate expectations and get organized. Only then can you learn practical ways to cope with the child’s problems and put these methods into practice. But making changes is not always easy. Sometimes it helps to have someone to talk to.
This is the purpose of support groups. Support groups consist of people in the same situation as you. They come together to help each other and to help themselves. Support groups provide reassurance, motivation, and inspiration. They help you see that your situation is not unique and not hopeless, and that gives you power. They also provide practical tips on coping with spina bifida and navigating the medical, educational, and social systems that you will rely on for help for yourself or your child. Being in a spina bifida support group is strongly recommended by most mental health professionals.
Support groups meet in person, on the telephone, or on the Internet. To find a support group that works for you, contact the following organization. You can also ask a member of your child’s care team, or go on the internet. If you do not have access to the internet, go to the public library.
- Spina Bifida Association of America - (800) 621-3141 or (202) 944-3285
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