SPINA BIFIDA

OVERVIEW

 Spina Bifida is a developmental anomaly characterized by defective closure of the bony encasement of the spinal cord through which the spinal cord and meninges may or may not protrude. 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 is usually nerve damage that causes at least some paralysis of the legs. Many people with spina bifida will need assistive devices such as braces, crutches or wheelchairs. They may have learning difficulties, urinary and bowel problems or hydrocephalus, a buildup of fluid in the brain.

FORMS

The two forms of spina bifida are spina bifida occulta and spina bifida manifesta. Spina bifida occulta is the mildest form of spina bifida (occulta means hidden). Most children with this type of defect never have any health problems, and the spinal cord is often unaffected.

Spina bifida manifesta includes two types of spina bifida:

Meningocele involves the meninges, the membranes responsible for covering and protecting the brain and spinal cord. If the meninges push through the hole in the vertebrae (the small, ring-like bones that make up the spinal column), the sac is called a meningocele.

 Myelomeningocele is the most severe form of spina bifida. It occurs when the meninges push through the hole in the back, and the spinal cord also pushes though. Most babies who are born with this type of spina bifida also have hydrocephalus, an accumulation of fluid in and around the brain.

 Because of the abnormal development of and damage to the spinal cord, a child with myelomeningocele typically has some paralysis. The degree of paralysis largely depends on where the opening occurs in the spine. The higher the opening is on the back, the more severe the paralysis tends to be. Children with spina bifida often have problems with bowel and bladder control, and some may have attention deficit hyperactivity disorder (ADHD) or other learning difficulties, such as hand-eye coordination problems.

CAUSES
Both genetic factors (heredity) and environmental factors: genetics nutrition exposure to harmful substances folic acid

SIGNS & SYMPTOMS

People with spina bifida occulta are almost always completely asymptomatic. 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 holdurine in the bladder and stool in the rectum. Hydrocephalus (accumulation of fluid in the brain) is another common residual problem, affecting about 90% of people with spina bifida.

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 as many as 25% 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. Although most people with spina bifida have normal intelligence, many have learning disorders. 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. 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.

DIAGNOSTICS

Exams and Tests For some children, evaluation for spina bifida begins before they are born. A prenatal test measures the level ofmaternal serum alpha-fetoprotein (MSAFP, or AFP), which is unusually high in women carrying a fetus with spina bifida or otherneural 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 indicateabnormalities 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.

Spina Bifida Treatment 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. 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

Medical Treatment 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/orbladder control problems, frequent urinarytract 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 anorthotic. 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.

Surgery 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 kidneyfailure, 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 ashunt 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 orabdomen. The shunt drains excess fluid from the brain into the abdomen, where it can be eliminated without harm.

Other Therapy 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.

Next Steps Follow-up 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 orurinary tract infection require appropriate treatment. The goal is to prevent secondarychronic 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.

 Prevention 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 that as many as 70% of 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.