|Children with Spina Bifida
Spina bifida, also called myelodysplasia, is a is a developmental birth defect affecting the nervous system and
causing irregular development of the back bones, spinal cord, surrounding nerves, and the fluid filled sac
that surrounds the spinal cord. This neurological disorder can result in a portion of the spinal cord and the
enclosed area develops outside, instead of inside, the body. This allows the abnormal portion of the spinal
cord to protrude through an opening in the bones. There may or may not be a fluid filled sac surrounding the
emerged spinal cord. The defect can occur anywhere along the spine.
Spina bifida occurs when the spinal bones fail to close properly during early formation. Spina bifida appears
in about one in one thousand births. It is, however, the most common of the physically disabling congenital
abnormalities. Spina bifida begins when a portion of the fetal spinal cord, during the third and fourth weeks
of pregnancy, fails to close completely. As a result, the child is born with a part of the spinal cord exposed
on the back. A child born with spina bifida needs to have the exposed part of the spinal cord corrected, to
avoid additional damage to the spinal cord and to prevent infection.
Symptoms of Spina Bifida
A newborn with spina bifida appears at first glimpse to be normal, except for a small sac protruding from
the spine. However, the sac contains spinal fluid and damaged nerves that lead to the lower body. Within the
first few days, surgery must be performed to remove the sac and close the opening in the spine.
Unfortunately, little can be done to repair the damaged nerves.
The following are the most common symptoms of spina bifida. However, each child may experience
symptoms differently. Symptoms may include:
• Unusual exterior of the baby's back, varying from a small, hairy patch or a dimple or birthmark, to a
sac-like bulge that is found along the back bone area.
• inability to move the lower legs (paralysis)
• bowel and bladder problems (i.e., constipation, excessive )
• Loss of feeling below the damaged area, especially in children born with a meningocele a birth defect
in the bones of the spine that involves swelling of the tissue covering the spinal cord and brain; or
myelomeningocele a birth defect in which the backbone and spinal canal do not close before birth.
The child may also have other problems related to spina bifida that include the following:
• hydrocephalus (increased fluid and pressure in the head area; occurs in about 80 to 90 percent of
• heart problems
• lower than normal intelligence level
The symptoms of spina bifida may resemble other conditions or medical problems. Always consult your
baby's physician for a diagnosis.
Diagnosing Spina Bifida
Diagnostic tests can be performed during pregnancy to evaluate the fetus for spina bifida. The tests include
• 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
• Prenatal ultrasound (sonogram) - a diagnostic imaging technique which 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 may be used to examine other organs and body systems of the fetus.
• Amniocentesis - a procedure that 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 or absence of an open neural tube defect. Small or closed defects may not
be picked up by this test.
Spina Bifida Hydrocephalus
Hydrocephalus is a congenital condition in which an abnormal accumulation of fluid in the cerebral ventricles
(one of a system of four corresponding outlets within the brain that are continuous with the central canal of
the spinal cord) causes enlargement of the skull and applies pressure to the brain, destroying much of the
Up to nine out of ten children with spina bifida eventually develop hydrocephalus, caused by an excessive
increase in the fluid that normally cushions the brain from injury. The increase occurs because the spina
bifida abnormality blocks the path through which the fluid ordinarily flows. This condition is serious and, if
not treated, may lead to death.
The pediatrician should suspect hydrocephalus if the baby’s head is growing more rapidly than expected.
The condition is confirmed by a computerized x-ray of the head, called a CT (computed tomography) scan
or magnetic resonance imagery (MRI). If hydrocephalus is present, surgery will be necessary to relieve the
Not all babies will require surgical repair of spina bifida. Non-surgical management of spina bifida may
include the following:
• positioning aids (used to help the child sit, lie, or stand)
• braces and splints (used to prevent deformity, promote support or protection)
Spina Bifida Types
• Spina bifida occulta - a mild form of spina bifida in which the spinal cord and the surrounding
structures remain inside the body, 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.
• Meningocele - 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.
• Myelomeningocele - 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 of 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.
Approximately 80 percent of defects are found in the lower back area. The remaining 20 percent of the
defects are located in the back of the neck or upper back areas.
Spina bifida is a type of neural tube defect. Neural tube defects, including spina bifida (open spine) and
anencephaly (open skull), are seen in one out of 1,000 pregnancies.
Spina Bifida Pregnancy
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). Spina bifida occurs when the neural tube fails to close somewhere along the
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. ONTDs are
from a number of different causes or influences, meaning "many factors," both genetic and environmental,
contribute to their occurrence. For example, once a couple has one child with spina bifida, the risk of having
a second child increases to 2-3%; if the couple has two affected children, their risk of having a third child
increases to about 10%. A parent who has one child with spina bifida has a greater chance (one out of a
hundred) of having another. This increased frequency appears to be due to some combined effect of
heredity and environment.
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, infection, and prescription drug or alcohol consumption.
Recently, attention has been focused on nutrition, and in the particular benefits in folate (B vitamin that is
essential for cell growth and reproduction) for reducing the incidence of spina bifida. Studies show that a
woman who takes folate supplementation before and during the early stages of pregnancy has a lower
chance of having a child with 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 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 direct neurulation (the
formation of the embryonic neural plate and its conversion into 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).
• Low-income status (Children born into lower income 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).
Genetic counseling may be recommended by your 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
ONTDs. 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.
In recent years, established surgeons have developed an experimental technique for performing prenatal
surgery to correct this condition before the child is born. 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 while the infant
is in the womb leads to an overall improvement for these children with minimal risks. Any woman who is
considering becoming pregnant should begin taking supplemental folate; consult your physician for more
information before adding this substance to your diet.
Caring for a Child with Spina Bifida:
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 your 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.
• Probability of the progression of spina bifida.
• Your personal opinion or preferences.
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 can not restore muscle function or sensation to a normal condition. Surgical
interventions may be needed for the following:
• Repair and closure of the abrasion
• Orthopedic problems may include curving in the back, hip dislocations, ankle and foot deformities,
and contracted muscles. Babies and children with spina bifida are also vulnerable to breaking their bones
since their bones may be weaker than normal.
• Bowel and bladder problems may require surgery to improve function in elimination, for incontinence
(unable to restrain natural discharges), constipation, or when the bladder does not empty completely.
Spina Bifida Treatment
Since spina bifida is a life-long condition with no cure, supervision and care often focuses on preventing or
minimizing deformities and maximizing the child's capabilities at home and in the community. Positive
reinforcement will encourage the child to strengthen his/her self-esteem and promote as much independence
as possible. The full extent of the problem is usually not completely understood immediately after birth, but
may be revealed as the child grows and develops.
Babies with spina bifida are at high risk for developing a latex allergy due to exposure to latex from multiple
medical and surgical procedures. Precautions are taken by the healthcare team to reduce the baby's exposure
to products that contain latex. Preventing the child from being exposed to latex will reduce the likelihood that
he/she will acquire the sensitivity. Many products used by infants contain latex (bottle nipples, pacifiers,
teething toys, changing pads, mattress covers, and some diapers) and should be avoided. Your baby's
healthcare providers can help you identify products that contain latex and also find products that are latex-
Muscle weakness or paralysis - The nerves leading to the lower part of the body are damaged, the
muscles in the legs may be very weak or even paralyzed in children with spina bifida. Their joints also tend
to be very stiff, and many babies with this disorder are born with abnormalities of the hips, knees, and feet.
Surgery can be performed to correct some of these problems, and the muscle weakness can be treated with
physical therapy and special equipment, such as braces and walkers. Many children with spina bifida
eventually can stand and some do walk, though the learning process is often long and extremely frustrating.
Bowel and bladder problems - Often the nerves that control bowel and bladder function are impaired in
children with spina bifida. As a result, these children are more likely to develop urinary tract infections and
damage to the kidneys due to abnormal urine flow. Special techniques are available to develop urinary
control and minimize infections. Your pediatrician will advise you.
Bowel control also is a problem, but usually can be achieved by children with this disorder. It may,
however, take a great deal of time, patience, careful dietary management (to keep the stools soft), and the
occasional use of suppositories or other bowel stimulants, or special enemas.
Infection - Parents of children who have spina bifida and hydrocephalus or urinary tract problems must be
ever alert for signs of infection. Fortunately, the types of infections that occur in these cases usually can be
treated effectively with antibiotics.
Educational and social problems - Seven out of ten children with spina bifida have developmental and
learning disabilities requiring some sort of special education. Many also need psychological counseling and
tremendous emotional support in order to deal with their medical, educational, and social problems.
Spina Bifida Management
Parents of a child with spina bifida need more than one physician to manage their child’s medical care. In
addition to the basic care your pediatrician provides, this disorder requires a group method that involves
neurosurgeons, orthopedic surgeons, urologists, rehabilitation experts, physical therapists, psychologists,
and social workers. Many medical centers run special spina bifida clinics, which offer the services of all
these health professionals in one location. Having all members of the team together makes it easier for
everyone to communicate and frequently provides better access to information and assistance when parents
The child is usually also evaluated by an urologist and orthopedist to evaluate the bladder, spine curvature,
and leg deformities if present. The child will usually be tested for bladder function and, if there are problems,
a catheterization schedule may be started and the parents taught how to do this - a small catheter is inserted
temporarily into the bladder through the urethra (the opening through which we urinate) to drain the urine.
The procedure isn't difficult or painful to perform. The parents are usually given information about spina
bifida from either the physicians or a nurse coordinator for the spina bifida program.
Fortunately, with the proper medical care, children with spina bifida can lead active and productive lives.
Many children with spina bifida are successful in school and many are actively involved in modified sports
activities despite their physical challenges. Twenty year follow-up studies of children with spina bifida show
that they enter college in the same proportion as the general population, and many are actively employed.
With recent progress in care for these children, their outlook continues to improve.