SPINA BIFIDA- PATIENT INFORMATION

What is spina bifida?

"Spina Bifida" comes from 2 words "Spina" meaning spine, "bifida" meaning split or divided. Spina bifida is the term used to describe a birth defect resulting from abnormal fusion of the developing spinal tissues and even the brain.

How does spina bifida occur?

The cause is unclear. Though many factors including familial (hereditary), genetic and environmental factors – folic acid & zinc deficiencies, lead excess, high fever in mother in pregnancy, increased vitamin A intake, excessive potatoes, hormones during conception, parenteral smoking and insulin dependent Diabetes Mellitus in mother have been proposed, no definite etiological factor has been gained rational explanation in the causation of the spina bifida. Amongst these etiological factors maternal folic acid deficiency is the most renowned fact, which many authors agree as a cause for spina bifida.

What are the types of spina bifida?

• Spina bifida occulta

Spina bifida occulta refers to a defect in the vertebra (spine bone). Usually the central nervous system is not involved. The neurological examination is normal. Most frequently the skin is normal over the vertebral defect however, associated dimples, sinuses, increased hair, fatty lump and hemangiomata (swelling consisting of blood vessels) may indicate the presence of spina bifida.

• Spina Bifida Aperta

Meningocele: Meningocele becomes evident at birth with observation of a cystic skin covered midline mass over the back. Half of one or more vertebrae are absent and the sac is composed of CSF (brain fluid), meninges (tissues covering the brain and the spinal cord) and skin. The reminder of the CNS is not involved and the prognosis for development is excellent. About 10% of the patients with spina bifida will have meningocele.

Myelomeningocele: Myelomeningocele is most severe form of spina bifida. The middle mass in addition to CSF and meninges contains the spinal cord. Most of them will develop hydrocephalus (increased CSF in the brain cavities). There is varying degree of weakness in lower limbs and problems in the bladder and the bowel movements. Bone and joint deformities are commonly present.

Rachischisis: A very extreme form of spina bifida in which the brain and spinal cord are exposed to the environment.

How does this condition affect the child?

The spinal cord normally carries messages between the brain and the body and the limbs. These messages help to control movement of the limbs. They also inform the brain about the feelings of touch, pain and signals from bladder and bowel. In spina bifida, the nerves are damaged because the spinal cord has not formed properly. The amount of nerve damage varies greatly. The main effects are:

• Hydrocephalus – excessive fluid in the brain.
• Muscle weakness or paralysis: Paralysis is below the level of spina bifida.
• Lack of touch, pain sensation
• Bowel and bladder incontinence.
• Leg deformities – Clubfoot, CTEV etc.

How is spina bifida diagnosed before birth?

Antenatally, spina bifida is diagnosed by the following tests:

1. Maternal serum Alfa Fetoprotein (ms AFP)
2. Antenatal Ultrasonography: Ultrasound evaluation for spina bifida includes both spinal and cranial imaging.

What is the treatment of spina bifida?

Back closures are usually done earlier in the first 48 hrs in all newborns unless there was contraindication like infection. Hydrocephalus when present is treated V-P shunt. But the real task starts after the initial management of the back closure and hydrocephalus.

How are the other associated problems managed?

1. Management of Contractures and deformities:

When an infant with Spina Bifida is born, some joints or muscles in the legs may be contracted or deformed. A contracture is a shortened muscle, which prevents the full range of movement being carried out at a joint. The joint may become stiff. A deformity is an abnormal position of a joint. The joint may or may not move at all. It is important to move each joint in the lower limbs through full range of movement every day even if contracture and deformities are not present. This will prevent the joints from developing contractures.

Treatment of contractures and deformities:

• Stretching: If a full movement of joint is not possible. The child needs daily stretching exercises.
• Positioning: Positioning of the infant or child can assist in correction and prevention of contracture and deformities. The child should not remain in one position for long period of time.

2. Management of orthopedic problem:

The deformities and contractures, which are not managed by the regular stretching exercise and physiotherapy, are treated surgically.

3. Rehabilitation:

An infant with spina bifida and hydrocephalus will usually have delay in development. This may be present from birth. It is due to several reasons

• Long periods of time in hospital after birth
• Parent’s concerns about having infant with spina bifida and knowing how to handle the child
• The infant’s heavy head due to hydrocephalus making it difficult to gain head control.
• The infant’s difficulty in learning to move due to muscle paralysis, contractures and deformities.

AIDS used in rehabilitation

All children should be given opportunity to stand and walk. The child can be stood as soon as he has sufficient head control and balance in his body. Standing encourages the muscles that hold the body up to walk. It prevents contractures and strengthens leg bones. If the child does not have muscle strength in the legs, aids such as gaiters, forward lean standers or an upright stander may be used.

Learning to walk should be fun and not a task. The child needs to gain confidence slowly. Special aids such as splints or calipers may be necessary to support the legs during walking. As the balance and confidence with walking improves; the child may be able to use crutches or walking sticks for support. For some children the effort of walking is too great. This may be difficult for the family to understand and accept. They may need to talk about it and not push the child to walk. These children may use a wheelchair or trolley for all or part of the body.

  SCHOOL ISSUE:

School is an important place for learning, developing skills and social interaction. Children with spina bifida can enjoy the usual range of school activities. Some children with spina bifida are usually mentally normal but majority of the children will have learning difficulties. The children may be good at some activities and have difficulties with other activities. Given appropriate help and guidance children with learning difficulties will be able to benefit from going to school. So schooling is a very important issue in children with spina bifida and parents must be encouraged to send their children with spina bifida to school.

4. Management of bladder and bowel:

Most children with spina bifida will have some problem with bowel and bladder. This will range from full control to total incontinence. Parents will need to discuss the most appropriate management for their child’s bladder and bowel problems. The aims of the treatment of bladder incontinence are:

• To keep the kidney healthy
• To keep the child and his cloths dry and free of urine for reasonable acceptable time.

Bowel: Most bowel problems in children of spina bifida are managed by diet to regulate stool consistency and by toilet training.

• Diet – Food controls the consistency of the stools in all children. For the children with bowel incontinence, food can be used to make the stool firmer or softer depending on the amount of fiber it contains. High fiber diet and if required laxatives are used.
• Toilet training
• Daily enemas – In some patients, daily enemas are helpful. Some patients require only one daily enema but in few patients enemas may be required upto 2 times a day.

How is spina bifida prevented?

Spina bifida is a birth defect that occurs very early in pregnancy. The defect develops between the 17^th to 30^th day after conception, usually before woman knows she is pregnant.

The US public health service recommends that all woman of childbearing age should consume 400 mg (0.4mg) of folic acid every day, to reduce their risk of having NTD affected pregnancy. The folic acid supplementation ideally should be started 3 months before and continued till 3 months after pregnancy. It is very difficult to know for a woman when she will become pregnant. So all women capable of becoming pregnant; not just those planning a pregnancy should consume enough folic acid every day. Women who are planning a pregnancy should eat more folate rich foods and avoid over cooking them.

Secondary prevention includes the screening and the options of selective termination of pregnancy.

Last created on 30-10-2001
Last updated on 18-11-2006