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Spina Bifida

What is spina bifida?

Spina bifida (Split Spine in Latin), is part of a group of birth defects called neural tube defects. Part or whole of the bony spine is not joined together properly and the spinal cord is exposed. This occurs very early in pregnancy, within the first month of conception.

It usually affects the lower part of the spine, rarely the upper part. Occasionally, part of the brain is also exposed.

Types of spina bifida

  • Spina bifida occulta
    The integrity of the spinal cord is intact. Only a small part of the bone is not well fused. The overlying skin covering is also intact.
  • Meningocoele
    Part of the meninges (protective outer covering around spinal cord extend through the defect in the bony spine. The spinal cord is usually intact.
  • Meningomyelocoele
    Part of the spinal cord and the meninges project from the spinal defect.

The severity of this condition varies. In the milder form, the affected baby may not have any signs.

If the defect is severe and at a higher level involving the spinal cord itself, the baby might not survive. These babies usually have complete paralysis, hydrocephalus (excessive fluid accumulation in the brain) and other congenital anomalies.

Most cases, however, are of moderate severity and require varying degree of treatment and rehabilitation.

How often does it occur?

It affects about 1 in 1000 live births.

Causes

  • The exact cause is still not fully understood. It is due to a combination of genetic and environmental factors.
  • One of the factors that contribute to this condition is lack of folic acid before pregnancy and during early pregnancy.

Signs

  • There might be a noticeable bump on the back. It is the protrusion of the spinal cord or the meninges (outer covering of the spinal cord) through the opening in the spine. A large head or enlarging head circumference may be present in some cases of meningomyelocele.
  • In cases of spina bifida occulta, skin discoloration, a dimple, a soft lump of fatty tissue or a tuft of hair can sometimes be seen over the lower back.

Symptoms

Some symptoms appear early while others appear later in life.

Sometimes, there will be no symptoms. The defect is detected only during radio imaging for some other medical problem.

Antenatal diagnosis is available and include ultrasonography, MRI and measurement of AFP (Alpha Feto Protein).

Complications

  1. Complications of spina bifida are usually due to the damage inflicted to the spinal cord or nerves roots coming out from the spinal cord. This will result in:
    • Low backache.
    • Urinary incontinence and retention.
    • Faecal incontinence and retention.
    • Weakness or complete paralysis of the lower limbs.
    • Sensation loss in the affected areas – resulting in injury, pressure sore or burns to the skin.
  2. Spina bifida is usually associated with a condition called hydrocephalus (in about 70% of cases). The brain and the spinal cord are bathed in and nourished by the cerebrospinal fluid (CSF). In spina bifida, the pathway of the CSF is blocked, causing accumulation of the CSF in the brain. This is dangerous, as the fluid build up will increase pressure and cause damage to the brain.
  3. Infections
    • Meningitis – infection of the membranes covering the nerve tissue.
    • Urinary tract infection involving bladder and/or kidneys – secondary to the urinary retention and back flow to the kidneys.
  4. Skeletal problems like scoliosis, club foot or hip dislocation.

Treatment

The mode of treatment available for spina bifida is surgery and life long supportive treatment. There is no complete cure for spina bifida.

  • If a baby is born with an open defect, surgery will be done as soon as possible.
    • The exposed spinal cord and the meninges are put back very carefully. The aim of early surgery is to minimize risk of infection and preserve existing spinal cord function.
    • Repeat surgery may be required later as the child grows. This is because the spinal cord and bony spine grow at different rates and the nerve tissue may be trapped.
  • If there is hydrocephalus, a shunt to drain the excess fluid from the brain to the abdomen might be needed. This shunt should be monitored for infection and blockage and necessary treatment should be given.
  • The child has to be assessed regularly by a team of specialists, physiotherapists and occupational therapists.
  • Infections are to be treated adequately.

Prevention

Consult your doctor for your subsequent pregnancy. You will be advised to take folic acid supplement prior to getting pregnant again.

Rehabilitation

Regular assessment by a team of health professionals is necessary (paediatricians, orthopaedic surgeons, neurosurgeons, paediatric surgeons, urologists, physiotherapists, occupational therapists and if required, counselors) in the process of rehabilitation. This is to anticipate and treat any problems early, thus enabling the child to live as comfortably as he or she can.

Rehabilitation involves:

  • Mobilisation – Physiotherapy and occupational therapy to maximize function and mobility. The child may require physical aids for example braces and wheel chair depending on the extent of weakness in the legs.
  • Sensory and skin care – Good care should be taken to prevent sores or ulcers over the areas with loss of sensation.
  • Bladder care – Bladder training and clean intermittent self-catheterisation. Bladder surgery may be necessary.
  • Bowel care – Bowel training, use of enema and correct diet.
  • Education – The affected child’s intelligence is usually normal but some may have learning difficulties and need special attention in school. Learning difficulties are usually more prevalent in children with associated hydrocephalus.
  • Parental support is the most important factor in the rehabilitation process of the child.

The child should be registered with the state Social Welfare and Education Department so as to receive proper health, welfare and special education benefits. The attending doctor can assist in the registration process by filling in the relevant forms.

Registered individuals with the welfare department are entitled to receive benefits with regard to medical treatment from government health facilities.

Last reviewed : 26 April 2012
Content Writer : Dato’ Dr. Jimmy Lee Kok Foo
  : Dr. Leow Poy Lee
  : Dr. Hamdan Abd Rahman
Reviewer : Dr. Nor Azni b. Yahaya

 

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