What Is Spina Bifida?

As a parent of a child with Spina Bifida, it is my obligation to educate as many people as possible about my daughter’s condition. I do this here solely out of that sense of obligation. Not out of any veiled attempts at gaining sympathy for myself or family. It is important, that the general public be educated about this birth defect because it can afflict any family.

The following information comes from the Spina Bifida Association of America’s website and the National Institutes for Health – National Institute of Neurological Disorders and Stroke fact pages on Hydrocephalus and Arnold Chiari II Malformation:

Spina Bifida is the most common permanently disabling birth defect in the United States.

It occurs when the spine of the baby fails to close during the first months of pregnancy. The effects of Spina Bifida are different for each person and THERE IS NO KNOWN CAUSE.

Q: Are there different types of Spina Bifida?

A: Yes, there are three types of Spina Bifida:

Occulta

Often called hidden Spina Bifida, the spinal cord and the nerves are usually normal and there is no opening on the back. In this relatively harmless form of Spina Bifida, there is a small defect or gap in a few of the small bones (vertebrae) that make up the spine.

There may be no motor or sensory impairments evident at birth. Subtle, progressive neurologic deterioration often becomes evident in later childhood or adulthood.

In many instances, Spina Bifida Occulta is so mild that there is no disturbance of spinal function at all. Occulta can be diagnosed at any age.

Meningocele

The protective coatings (meninges) come through the open part of the spine like a sac that is pushed out. Cerebrospinal fluid is in the sac and there is usually no nerve damage. Individuals may suffer minor disabilities. Additional problems can develop later in life.

Myelomeningocele

This form of Spina Bifida occurs when the meninges (protective covering of the spinal cord) and spinal nerves come through the open part of the spine. This is the most serious type of Spina Bifida, which causes nerve damage and more severe disabilities.

Note: This is the type of Spina Bifida my daughter was born with. Her lesion was at the L2 level. In spite of this relatively high lesion, she has full leg and toe movement. She does have some weakness in her left knee, ankle, and foot. We are hoping, with orthotics she may be able to build some strength and walk normally.

Q: How often does Spina Bifida occur?

A: Birth defects like Spina Bifida occur in 7 out of every 10,000 live births in the United States. Birth certificate data from the National Vital Statistics System, a component of the Centers for Disease Control and Prevention (CDC), National Center for Health Statistics (NCHS), indicate a drop in the rate of Spina Bifida; however, Spina Bifida is considered to be underreported on birth certificates so the drop in the rate could be due to lack of reporting, not an actual decrease in occurrence. In addition, a number of Spina Bifida pregnancies are voluntarily terminated and we cannot be certain how many pregnancies are terminated versus carried to term.

Q: What are the costs associated with Spina Bifida?

A: The economic and social costs associated with Spina Bifida – for both the affected individuals and their families – can be significant. The average total lifetime cost to society for each infant born with Spina Bifida is approximately $532,000 per child. This estimate is only an average and for many children the total cost may be well above $1 million. Estimated total annual medical care and surgical costs for persons with Spina Bifida in the United States exceed $200 million. Currently available statistics on the cost of Spina Bifida are estimates based on the average dollar in the mid-1980s. Therefore, due to inflationary increases over the past two decades, these cost statistics likely are higher.

Q: How many people with Spina Bifida are there in the United States?

A: SBA estimates that more than 70,000 people in the United States are living with this birth defect. However, this figure is conservative and is based on estimates from the SBA Professional Advisory Council. It is anticipated that the number may be higher as there are 54 million people living with disabilities in the United States.

Q: Does the Spina Bifida Association provide financial aid?

A: The national headquarters of the Spina Bifida Association does not have the resources to offer direct financial aid to individuals. However, there are sources of aid that have been helpful to others with similar needs that you may wish to contact.

* Call the social services department at your Spina Bifida clinic or hospital.

* Call your city or county health department.

Assistance with hospital care needs is another financial concern. The Hill-Burton Act was passed by Congress in 1946 for help with hospital care needs. In exchange for construction and modernization funding, hospitals and other health facilities agreed to provide a reasonable volume of services to persons unable to pay and to also make services available to all persons residing in the facilities’ area.

To obtain information about these services in your area, call 800-638-0742. If you are at the hospital, ask at the admissions desk for the “Individual Notice” for Hill-Burton free hospital care. This will tell you what the requirements are for eligibility, and what services are provided by the hospital. Once you have applied for free services, the hospital must determine your eligibility within two working days.

The United States Department of Health and Human Services (HHS) is responsible for the administration of this program. If you have any problems with this service you may contact the nearest HHS Office to make additional inquiries.

Q: Who is at risk for Spina Bifida?

A: In the United States, there are 65 million women of childbearing age and each one is potentially at risk of having a pregnancy affected by Spina Bifida. Birth defects can happen in any family. In fact, 95 percent of neural tube defects (NTDs) occur in women with no personal or family history of NTDs. However, according to the CDC, some risk factors are known:

Q: Are certain ethnic groups more likely to have Spina Bifida?

A: Spina Bifida has been found to occur more frequently in Hispanic populations. The most recent study available related to ethnicity and Spina Bifida is from 1996 and was conducted by the CDC. It is based on 1983-1990 data reported through the Birth Defects Monitoring Program. The study examines relative risk and the likelihood that one group is more likely to have Spina Bifida than another group. The following lists groups by race/ethnicity from most at risk to least at risk:

Q:What can be done to reduce the risk?

A: Studies have shown that if all women who could become pregnant were to take a multivitamin with the B-vitamin folic acid, the risk of neural tube defects could be reduced by up to 70%. Folic acid is a water soluble B-vitamin that helps build healthy cells. Because it is water soluble, folic acid does not stay in the body for very long, so women need to take it every day to help reduce the risk of neural tube defects (NTD).

Since half of all pregnancies in the United States are unplanned, women of childbearing age-even if they are not currently planning to get pregnant-should take 400 micrograms (mcg) of folic acid every day to reduce their risk of having a child with Spina Bifida. In addition, women who have experienced a pregnancy affected by a NTD like Spina Bifida need a larger prescription dose of 4000 (mcg) of folic acid daily when planning a pregnancy.

Q: I’m pregnant and the baby has Spina Bifida. Do you have any information on Spina Bifida and fetal surgery?

Management of Myelomeningocele Study (MOMS) is a research study designed to compare two approaches to the treatment of babies with Spina Bifida: surgery before birth (prenatal or fetal surgery) and surgery after birth (postnatal surgery). Spina Bifida is a complex birth defect in which a portion of the spinal cord and associated nerves as well as the surrounding spinal bones and overlying muscle and skin do not fully develop. At birth the incompletely developed portion of the spinal cord protrudes through the open bones and skin. The incomplete development of the spinal cord can occur anywhere along its length, from the neck to the lower back and results in a variety of medical problems. You may call toll free: 1-866-ASK-MOMS (275-6667) for more information.

Resource:

Catherine Shaer, M.D.
The GWU Biostatistics Center
6110 Executive Blvd., Suite 750
Rockville, MD 20852
Call toll free: 1-866-ASK-MOMS (275-6667)
Fax toll free: 1-866-458-4621
Email: MOMS[at]biostat[dot]bsc[dot]gwu[dot]edu
Web: http://www.spinabifidamoms.com/

*Note
The email address above was not linked because spam bots tend to rip email addresses from blogs and then auto email the addresses. I’m sorry for the inconvenience.

Q: How often does Spina Bifida occur?

Q: How often does Spina Bifida occur in my state? How does this compare to the national average?

A: Reporting and monitoring methods used to measure Spina Bifida vary from state to state. Currently, each state has different birth defects monitoring methods. This makes comparisons between different states or with the national average challenging. In fact, many states may not have current data or may not collect data on Spina Bifida at all. To find out if your state does have such information on its rate of Spina Bifida check with your local Department of Health or your local affiliate of the National Birth Defects Prevention Network ( http://www.nbdpn.org/ ).

Q: Are there certain regions of the country where the rates of Spina Bifida are higher?

A: Spina Bifida has been found to occur more frequently in certain areas of the country, such as the Southwest and Southeast. This estimate is from a study done by the Centers for Disease Control and Prevention (CDC) Birth Defects Monitoring Program. Data reported to the Birth Defects Monitoring Program from 1983-1990 was examined in this study.

Along with Spina Bifida, there is a secondary defect that almost always accompanies the NTD called Arnold-Chiari II Malformation.

Q: What is Chiari Malformation?

A: Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. There are three primary types of CM. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia, and spinal curvature.

Q: Is there any treatment?

A: Medications may ease certain symptoms, such as pain. Surgery is the only treatment available to correct functional disturbances or halt the progression of damage to the central nervous system. More than one surgery may be needed to treat the condition.

Q: What is the prognosis?

A: Many people with Type I CM are asymptomatic and do not know they have the condition. Many patients with the more severe types of CM and have surgery see a reduction in their symptoms and/or prolonged periods of relative stability, although paralysis is generally permanent.

Q: What research is being done?

A: The NINDS supports research on disorders of the brain and nervous system such as Chiari malformations. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and, ultimately, cure them.

Arnold-Chiari II Malformations can create a situation in the brain known as Hydrocephalus.

Q: What is hydrocephalus?

A: The term hydrocephalus is derived from the Greek words “hydro” meaning water and “cephalus” meaning head. As the name implies, it is a condition in which the primary characteristic is excessive accumulation of fluid in the brain. Although hydrocephalus was once known as “water on the brain,” the “water” is actually cerebrospinal fluid (CSF) — a clear fluid that surrounds the brain and spinal cord. The excessive accumulation of CSF results in an abnormal widening of spaces in the brain called ventricles. This widening creates potentially harmful pressure on the tissues of the brain.

The ventricular system is made up of four ventricles connected by narrow passages.. Normally, CSF flows through the ventricles, exits into cisterns (closed spaces that serve as reservoirs) at the base of the brain, bathes the surfaces of the brain and spinal cord, and then reabsorbs into the bloodstream.

CSF has three important life-sustaining functions: 1) to keep the brain tissue buoyant, acting as a cushion or “shock absorber”; 2) to act as the vehicle for delivering nutrients to the brain and removing waste; and 3) to flow between the cranium and spine and compensate for changes in intracranial blood volume (the amount of blood within the brain).

The balance between production and absorption of CSF is critically important. Because CSF is made continuously, medical conditions that block its normal flow or absorption will result in an over-accumulation of CSF. The resulting pressure of the fluid against brain tissue is what causes hydrocephalus.

Q: What are the different types of hydrocephalus?

A: Hydrocephalus may be congenital or acquired. Congenital hydrocephalus is present at birth and may be caused by either events or influences that occur during fetal development, or genetic abnormalities. Acquired hydrocephalus develops at the time of birth or at some point afterward. This type of hydrocephalus can affect individuals of all ages and may be caused by injury or disease.

Hydrocephalus may also be communicating or non-communicating. Communicating hydrocephalus occurs when the flow of CSF is blocked after it exits the ventricles. This form is called communicating because the CSF can still flow between the ventricles, which remain open. Non-communicating hydrocephalus – also called “obstructive” hydrocephalus – occurs when the flow of CSF is blocked along one or more of the narrow passages connecting the ventricles. One of the most common causes of hydrocephalus is “aqueductal stenosis.” In this case, hydrocephalus results from a narrowing of the aqueduct of Sylvius, a small passage between the third and fourth ventricles in the middle of the brain.

There are two other forms of hydrocephalus which do not fit exactly into the categories mentioned above and primarily affect adults: hydrocephalus ex-vacuo and normal pressure hydrocephalus.

Hydrocephalus ex-vacuo occurs when stroke or traumatic injury cause damage to the brain. In these cases, brain tissue may actually shrink. Normal pressure hydrocephalus can happen to people at any age, but it is most common among the elderly. It may result from a subarachnoid hemorrhage, head trauma, infection, tumor, or complications of surgery. However, many people develop normal pressure hydrocephalus even when none of these factors are present for reasons that are unknown.

Q: Who gets this disorder?

A: The number of people who develop hydrocephalus or who are currently living with it is difficult to establish since there is no national registry or database of people with the condition. However, experts estimate that hydrocephalus affects approximately 1 in every 500 children.

Q: What causes hydrocephalus?

A: The causes of hydrocephalus are still not well understood. Hydrocephalus may result from inherited genetic abnormalities (such as the genetic defect that causes aqueductal stenosis) or developmental disorders (such as those associated with neural tube defects including spina bifida and encephalocele). Other possible causes include complications of premature birth such as intraventricular hemorrhage, diseases such as meningitis, tumors, traumatic head injury, or subarachnoid hemorrhage, which block the exit of CSF from the ventricles to the cisterns or eliminate the passageway for CSF into the cisterns.

Q: What are the symptoms?

A: Symptoms of hydrocephalus vary with age, disease progression, and individual differences in tolerance to the condition. For example, an infant’s ability to compensate for increased CSF pressure and enlargement of the ventricles differs from an adult’s. The infant skull can expand to accommodate the buildup of CSF because the sutures (the fibrous joints that connect the bones of the skull) have not yet closed.

In infancy, the most obvious indication of hydrocephalus is often a rapid increase in head circumference or an unusually large head size. Other symptoms may include vomiting, sleepiness, irritability, downward deviation of the eyes (also called “sunsetting”), and seizures.

Older children and adults may experience different symptoms because their skulls cannot expand to accommodate the buildup of CSF. Symptoms may include headache followed by vomiting, nausea, papilledema (swelling of the optic disk which is part of the optic nerve), blurred or double vision, sunsetting of the eyes, problems with balance, poor coordination, gait disturbance, urinary incontinence, slowing or loss of developmental progress, lethargy, drowsiness, irritability, or other changes in personality or cognition including memory loss.

Symptoms of normal pressure hydrocephalus include, problems with walking, impaired bladder control leading to urinary frequency and/or incontinence, and progressive mental impairment and dementia. An individual with this type of hydrocephalus may have a general slowing of movements or may complain that his or her feet feel “stuck.” Because some of these symptoms may also be experienced in other disorders such as Alzheimer’s disease, Parkinson’s disease, and Creutzfeldt-Jakob disease, normal pressure hydrocephalus is often incorrectly diagnosed and never properly treated. Doctors may use a variety of tests, including brain scans (CT and/or MRI), a spinal tap or lumbar catheter, intracranial pressure monitoring, and neuropsychological tests, to help them accurately diagnose normal pressure hydrocephalus and rule out any other conditions.

The symptoms described in this section account for the most typical ways in which progressive hydrocephalus manifests itself, but it is important to remember that symptoms vary significantly from one person to the next.

Q: How is hydrocephalus diagnosed?

A: Hydrocephalus is diagnosed through clinical neurological evaluation and by using cranial imaging techniques such as ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), or pressure-monitoring techniques. A physician selects the appropriate diagnostic tool based on an individual’s age, clinical presentation, and the presence of known or suspected abnormalities of the brain or spinal cord.

Q:What is the current treatment?

A: Hydrocephalus is most often treated by surgically inserting a shunt system. This system diverts the flow of CSF from the CNS to another area of the body where it can be absorbed as part of the normal circulatory process.

A shunt is a flexible but sturdy plastic tube. A shunt system consists of the shunt, a catheter, and a valve. One end of the catheter is placed within a ventricle inside the brain or in the CSF outside the spinal cord. The other end of the catheter is commonly placed within the abdominal cavity, but may also be placed at other sites in the body such as a chamber of the heart or areas around the lung where the CSF can drain and be absorbed. A valve located along the catheter maintains one-way flow and regulates the rate of CSF flow.

A limited number of individuals can be treated with an alternative procedure called third ventriculostomy. In this procedure, a neuroendoscope — a small camera that uses fiber optic technology to visualize small and difficult to reach surgical areas — allows a doctor to view the ventricular surface. Once the scope is guided into position, a small tool makes a tiny hole in the floor of the third ventricle, which allows the CSF to bypass the obstruction and flow toward the site of resorption around the surface of the brain.

Q: What are the possible complications of a shunt system?

A: Shunt systems are not perfect devices. Complications may include mechanical failure, infections, obstructions, and the need to lengthen or replace the catheter. Generally, shunt systems require monitoring and regular medical follow up. When complications occur, the shunt system usually requires some type of revision.

Some complications can lead to other problems such as overdraining or underdraining. Overdraining occurs when the shunt allows CSF to drain from the ventricles more quickly than it is produced. Overdraining can cause the ventricles to collapse, tearing blood vessels and causing headache, hemorrhage (subdural hematoma), or slit-like ventricles (slit ventricle syndrome). Underdraining occurs when CSF is not removed quickly enough and the symptoms of hydrocephalus recur. In addition to the common symptoms of hydrocephalus, infections from a shunt may also produce symptoms such as a low-grade fever, soreness of the neck or shoulder muscles, and redness or tenderness along the shunt tract. When there is reason to suspect that a shunt system is not functioning properly (for example, if the symptoms of hydrocephalus return), medical attention should be sought immediately.

Q: What is the prognosis?

A: The prognosis for individuals diagnosed with hydrocephalus is difficult to predict, although there is some correlation between the specific cause of the hydrocephalus and the outcome. Prognosis is further complicated by the presence of associated disorders, the timeliness of diagnosis, and the success of treatment. The degree to which relief of CSF pressure following shunt surgery can minimize or reverse damage to the brain is not well understood.

Affected individuals and their families should be aware that hydrocephalus poses risks to both cognitive and physical development. However, many children diagnosed with the disorder benefit from rehabilitation therapies and educational interventions and go on to lead normal lives with few limitations. Treatment by an interdisciplinary team of medical professionals, rehabilitation specialists, and educational experts is critical to a positive outcome. Left untreated, progressive hydrocephalus may be fatal.

The symptoms of normal pressure hydrocephalus usually get worse over time if the condition is not treated, although some people may experience temporary improvements. While the success of treatment with shunts varies from person to person, some people recover almost completely after treatment and have a good quality of life. Early diagnosis and treatment improves the chance of a good recovery.

Q: What research is being done?

A: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to hydrocephalus in laboratories and clinics at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure disorders such as hydrocephalus. The NINDS also conducts and supports a wide range of fundamental studies that explore the complex mechanisms of normal and abnormal brain development.

Q: Where can I get more information?

A: For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:

BRAIN
P.O. Box 5801
Bethesda, MD 20824
(800) 352-9424
http://www.ninds.nih.gov

Gribbit’s Word brings you this information solely for the purposes of education. Should you feel compelled to do something, think about contributing any amount that you feel comfortable with to the Spina Bifida Association of Cincinnati. We know from experience, that the SBA of Cincinnati does help families directly during in-patient hospital stays.