About Spina Bifida and Hydrocephalus

What is Spina Bifida?
Spina bifida is the most frequently occurring permanently disabling birth defect. It affects the development of the spine, spinal cord and the brain. For everyone born with spina bifida at least one spinal vertebra is only partly formed and the spinal cord at that point and below as well as the skin around the site are not properly developed. In about 90% of people with spina bifida, the alteration to the brains development causes hydrocephalus.

Things to remember about spina bifida:

  1. It is very complex. It can affect all organ systems of the body and require a full range of specialist treatments.
  2. It is unstable. Even though it is not a degenerative condition, any of the associated conditions can arise at any time and the treatment options may fail at any time.
  3. The many associated conditions usually require frequent medical, surgical and allied health intervention. It is common for children and adults to be hospitalised several times each year.
  4. It is a snowflake condition. No two people are affected in exactly the same way and the amount of damage to the central nervous system (brain and spine) varies from person to person. 

What causes Spina Bifida?
Spina bifida is caused by a combination of genetic and environmental factors. Some factors, such as having a close family history of spina bifida or taking some anti epileptic medication are known to increase the risk, however 95% of children with spina bifida are born in circumstances where high risk factors are not apparent.

What are the effects of Spina Bifida?
The effects vary considerably from person to person. Spina bifida is commonly found in the lumbar and sacral spine. Because the lumbosacral spinal nerves control muscles and feelings in the lower limbs, people with spina bifida have some degree of paralysis. Most people need to use a wheelchair. Bladder and bowel functioning are also severely affected. Tethering is caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Other common problems include curvature of the spine, decubitis, epilepsy, short stature, latex allergy, urinary tract infections, as well as many other problems caused by hydrocephalus. Frequent hospitalisations are needed to treat these problems.

How common is Spina Bifida?
More than 10 million people worldwide have spina bifida. In Australia approximately 1 in 1,200 pregnancies are affected by spina bifida. With the use of folic acid this incidence is believed to be declining. There are over 1,000 adults and children with spina bifida and hydrocephalus in Queensland.

Is there a cure for Spina Bifida?
No. There is no cure for this condition because damaged nerve tissue cannot be replaced or repaired.

Is there a treatment for Spina Bifida?
Multiple surgeries, other medical treatment, medication, physiotherapy, occupational therapy, neuropsychology, medical aids, assistive equipment and assistance at school and beyond are all required in the treatment of spina bifida. Spina bifida is not a condition that people outgrow. People have to learn to manage its effects as best they can and live with them. Ongoing medical care, surgical procedures, therapy and community support are all required to prevent and manage complications throughout a person’s life.

Can Spina Bifida be prevented?
No, but the risk can be minimised if an expectant mother takes a daily supplement of 0.5mg of folic acid one month before conception and three months after. Folic acid is a B vitamin which is present mainly in leafy green vegetables. Research has shown that this regime reduces the incidence of spina bifida and similar birth defects by up to 70%. The National Health and Medical Research Council recommend that all women of child bearing age consume a 0.5mg daily folic acid supplement. People with a close family history of spina bifida have a higher risk and should consult their doctor about a higher dose of folic acid.

What does the future hold?
There are many unknowns to do with spina bifida. Medical research dealing with the ongoing problems associated with spina bifida is relatively new. Prior to the 1960s few children with spina bifida survived. Now the first group of people with spina bifida and hydrocephalus have reached adulthood and we are starting to see what effect spina bifida has on their lives. Although the future of how ageing will affect each individual is unclear, we do know that proactive management of physical and mental health will maximise each person’s quality of life well into adulthood.

 

What is Hydrocephalus?
Hydrocephalus is the result of a blockage in the flow of cerebrospinal fluid (CSF) through the pathways of the ventricles of the brain, causing pressure on the brain. A clear, saltwater-like liquid called (CSF) surrounds the brain. This fluid protects and hydrates the brain, carries away waste from brain cells and contains important chemicals and nutrients. Each day the brain produces about 500mL of cerebrospinal fluid. The CSF flows in a continuous circuit through the brain cavities (ventricles), and over the surface of the brain and spinal cord until it is absorbed by the body. When CSF is constantly being produced, but cannot get out, it accumulates and causes raised pressure inside the brain. When there is a blockage, the ventricles swell or enlarge and the brain tissue is stretched and squashed.

Hydrocephalus and Spina Bifida
Approximately 90% of people born with spina bifida also have hydrocephalus. Somewhere along the CSF pathways, the flow of cerebrospinal fluid has been obstructed. 

How is Hydrocephalus Treated?
Hydrocephalus is usually treated by insertion of a “shunt”. A shunt is a device which drains excess cerebrospinal fluid from the brain to other parts of the body. A one-way valve is used, which usually sits outside the skull, but beneath the skin, somewhere behind the ear.

How common is hydrocephalus?
The rate of hydrocephalus with or without spina bifida is 1 in 500. It is the most common reason for brain surgery in children.

 Types of Hydrocephalus and terms commonly used

 External Hydrocephalus: Fluid builds up around the inside of the skull, rather than within the brain in the ventricles 

Congenital Hydrocephalus: Means present at birth. In congenital hydrocephalus it is often impossible to determine the cause. It is assumed to be due to the baby’s development before birth that somewhere the CSF pathways have been blocked.

Acquired Hydrocephalus: Develops often as a result of injury to the brain. Bleeding in the brain is the most common cause of hydrocephalus. Infections such as measles or meningitis can also cause hydrocephalus.

Arrested Hydrocephalus: At some time there has been increased pressure causing enlarged ventricles, but it did not progress. It is the progression of pressure that causes most damage to the brain.

Normal Pressure Hydrocephalus: Occurs in older people. Dementia type symptoms may develop and often bladder control and unsteady gait develops.