Treatment
We apply the following selection criteria for treatment advice:
Potential for ambulation:
After thorough motor and sensory evaluation, the potential for ambulation is decided.
Family status and support:
The economical, educational status of the family is assessed, and the amount of support, which the family is giving to deliver for the case of Spina Bifida, is judged.
Associated anomalies:
Gross hydrocephalus, presence of bowel, bladder incontinence, and other congenital anomalies are seen.
Those patients who have very little potential for ambulation in the future i.e. patients with total paraplegia & those who were from very poor families, living remote from specialized centers and child with gross other congenital anomalies are told of a poor prognosis. Back closures are usually done earlier in the first 48 hrs in all newborns unless there was contraindication like an infection.
Hydrocephalus
Hydrocephalus when present is treated with Chabra's medium pressure V-P shunt. But the real task starts after the initial management of the back closure and hydrocephalus.
Management of Associated Problems
Management of lower limbs
Management of lower limbs paraparesis or paraplegia can be described under the following headings:
Initial Assessment: This is done with the help of physiotherapist.
- Presence or absence of the movement in the legs: Muscle charting is a useful way of recording these movements. While recording these movements, look at the movement of each joint to see if it is the presence or not. The strength of the movement at the joint should also be graded and charted. It is important that the movement in each leg is recorded separately as there is often a difference in the strength of each leg.
- Presence or absence of feeling in the legs: It is difficult to assess the loss of feeling in the leg of an infant with Spina Bifida. The best way to do this is to use a light pinch or prick with a pin over the toes, feet, and legs. The infant's reaction e.g. pulling away, crying or no reaction should be recorded.
Assessment 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. At the first, assessment of an infant with spina bifida, all limbs should be checked. This is done by moving all joints in the arms and legs through a full range of movement. It is important to move each joint in the lower limbs through a 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 the joint is not possible. The child needs daily stretching exercises.
- Positioning: Positioning of the infant or child can assist in the correction and prevention of contracture and deformities. The child should not remain in one position for a long period of time.
Other assessments:
There are some further areas that should be looked at:
- How awake and alert the infant is
- How the infant likes being moved around
- How much the infant cries
- Parents response to the infant
- Family concerns about the infant
Management of orthopedic problem:
The deformities and contractures, which are not managed by the regular stretching exercise and physiotherapy, are treated surgically. The commonest foot deformity we have encountered is congenital talipes equinus varus. The CTEV is corrected by the manipulation under anesthesia, cast application, and the surgical correction. Contractures are treated by tendon release surgeries and tendon transplants. Eversion, inversion, and calcaneus foot deformities are the other common deformities, which we see in our patients. An orthopedic surgeon in our spina bifida team corrects these deformities.
Rehabilitation
An infant with spina bifida and hydrocephalus will usually have a delay in development. This may be present from birth. It is due to several reasons:
Aids used in rehabilitation
All children should be allowed 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 improve; 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.
Management of Bladder And Bowel
Most children with spina bifida will have some problems 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 clothes dry and free of urine for a reasonably 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 a few patients, enemas may be required up to 2 times a day.
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 the 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.
Assessment of The Child On Follow-up
It is necessary to record the following things on follow-up:
- Child's developmental progress
- Changes in movement and feeling of lower limb
- Development of deformities and contractures
- Changes in the shape of the child's spine
- Problems that might arise as a result of hydrocephalus
- Problems with urine and stools
- Family concerns about the child
Prevention of Neural Tube Defects (ntd)
NTDs are birth defects that occur very early in pregnancy. The defect develops between the 17th to 30th days after conception, usually, before the woman knows she is pregnant. During this critical time of pregnancy, the proper formation and closure of the neural tube, which later becomes the spinal cord, brain, and bones surrounding the spinal cord normally takes place. An NTD occurs when the neural tube fails to close properly. Spina bifida is the most common NTD. Spina bifida occurs when the lower end of the neural tube fails to close. As a result, the spinal cord and backbones do not develop properly. 80-90% of infants born with spina bifida survive despite the varying degrees of disability, many lead long successful, and productive lives.
Both the prevention and treatment of spina bifida are important. Spina bifida impacts not only the life of the child and those of his or her family but the community as well. As a child with spina bifida grows older he or she faces unique economic, educational, medical, health, and emotional issues. Paralysis of the legs and bowel and bladder problems are common with spina bifida. These problems may affect a person's health, self-esteem, personal interaction, work, and recreational opportunities.
Although medical care has greatly improved the survival rate and quality of life of children of spina bifida, the children and the families affected live with varying degrees of physical and social challenges for life. So we hope to look into this program of prevention of NTDs by folic acid supplementation with serious concern.
Primary and secondary prevention of NTDs
In considering the prevention of a disease, a distinction must be made between primary and secondary prevention. Primary prevention is effected by measures, which prevent the development of NTD in the embryo. Secondary prevention is brought about through screening and the option of selective termination of pregnancy and has been available for nearly twenty years. The opportunity to introduce primary preventive measures is a major medical and social advance.
Primary prevention
One of the nearly emerging areas in the field of clinical genetic is the concept of primary prevention. It implies the prevention of the birth of the affected child prior to its occurrence in any family. Primary prevention requires targeting preventive measures to the entire population or high-risk individuals. NTD has emerged as an ideal condition for primary prevention.
Periconceptional folic acid supplementation for primary prevention
One of the most remarkable developments in the field of teratogenesis during the last two decades has been a demonstration of the efficacy of periconceptional folic acid supplementation in the prevention of NTD. In the UK, it has shown that periconceptional folic acid supplementation has reduced the risk of NTDs by 70%. Its efficacy in the Indian population has also been demonstrated. The timing of folic acid supplementation for the prevention of NTD is very critical. The US public health service recommended that all women of childbearing age should consume 400 mg (0.4 mg) 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. As an alternative, it has been proposed to fortify breakfast cereals and bread to provide the recommended daily allowance of folic acid.
Secondary prevention
Secondary prevention includes the screening and the options of selective termination of pregnancy. Some embryos with NTD will be aborted spontaneously. By mid-pregnancy, it can be expected that almost all cases of anencephaly, at least two-thirds of those with Spina Bifida will be identified by estimation of alfa Fetoprotein levels in maternal blood and amniotic fluid and by ultrasound. Some parents choose to have the pregnancy terminated at this stage.
The prevalence of the NTDs is significantly influenced by the effectiveness of maternal blood and amniotic fluid examination and by ultrasound. Some parents choose to have the pregnancy terminated at this stage.
Methods of Improving Folic Acid Intake
There are three ways from which women can get enough folic to prevent spina bifida. They can choose to:
Best method in India
Having shown without doubt that folic acid taken correctly can reduce the incidence of neural tube defects by at least 70%, the next thing that is needed to be considered is "Could the conception with NTDs in the general population of pregnant women be reduced by increasing the folic acid intake of all women of childbearing age?" One way to do this is to ask all women planning a pregnancy to take 400 micrograms of folic acid for 3 months before conceiving and for 3 months afterward. This plan only works for a proportion of women. The reason why it does not work for the rest of the following reasons:
- It is recognized that less than half of the pregnancies are planned.
- Women need to be informed of the need to take folic acid and why it is important to do so. In India, public awareness regarding folic acid supplementation in the prevention of NTDs is very poor.
The best possible method for supplementation of folic acid in India described below: Eating folic acid foods and avoiding overcooking are already part of advice for healthy eating for the general population. The consumption of vegetables and fruits need to be doubled in India women population. Women who are planning a pregnancy would benefit particularly from such a change of diet. Some women may be able to select a diet with 0.6 milligrams folate/folic acid by increasing their consumption of folate-rich foods. But it is very unlikely that in India this measure alone will ensure sufficient intake for the majority who need it. Some food products like wheat, salt, or sugar can be fortified with folic acid. This will be an effective way of ensuring an increased intake for all women becoming pregnant. The fortification of these foods can be done with a reasonable amount of folic acid, which will not cause side effects.
We recommend that all women who are planning a pregnancy should be advised to take 400 micrograms of folic acid as a daily medicinal or food supplement from when they plan to have a baby until the twelfth week of pregnancy. This will be the most effective method of NTD prevention in India. That is every woman of childbearing age should be supplemented with 400 micrograms of folic acid daily.
Need for public awareness and inclusion of Govt. programs
In India, as we have discussed, the prevalence of NTDs is very high. The social and economical burden created by these disabled children is devastating. This urges the need for public awareness of this problem and prevention by folic acid supplementation. Public awareness can be increased by:
- By giving information at science classes at children.
- Giving lectures at college where the women of the childbearing age are attending the college.
- Public lectures regarding the role of folic acid in the prevention of neural tube defects.
- Wide exposure of the general population of the facts through the media that is radio, television programs.
- Press conferences, news releases, articles in magazines, and newspapers.
- Involvement of medical/managed care providers.
- Distribution of brochures, educational material regarding folic acid prevention with each prescription dispensed at pharmacies.
- Making of posters, flyers, buttons, brochures, video, and newsletters stating the importance of folic acid.
- The help of non- government organizations for public service.
- This type of campaign to increase the awareness of NTD prevention will really help in reducing the prevalence of NTD in India.
The Govt.'s role is pivotal in the prevention. The Govt. should introduce the central coordination facility through which the system should be developed to monitor the prevalence of neural tube defect and to start a programme of folic acid supplementation in the periconceptional period. As in India the program of multivitamins & Iron supplementation to pregnant women is already there, this program can be expanded and folic acid can be started before the woman becomes pregnant.
Recommendations to Prevent Occurrence of Neural Tube Defects
- Extra folate/folic acid is recommended for all women prior to conception and during the first twelve weeks of pregnancy.
- The three possible ways of achieving an extra intake of folate/folic acid (eating more folate-rich foods, eating foods fortified with folic acid, taking folic acid as a medicinal/food supplement).
- Women who are planning a pregnancy should eat more folate-rich foods and avoid overcooking them.
- The range of foodstuffs containing folic acid should be increased.
- Fortification of foodstuffs should be restricted to limited foodstuffs.
- There should continue to be a choice of unfortified foods.
- All women who are planning a pregnancy should be advised to take 0.4 milligrams (400 micrograms) folic as a daily medicinal or food supplement from when they begin trying to conceive until the twelfth week of pregnancy.
- Women who have not been supplementing their folate/folic acid intakes and who suspect they may be pregnant should start supplementation at once and continue until the twelfth week of pregnancy. Consideration should be given to taking folic acid tablets or capsules available free of charge as a pre-pregnancy supplement.
- There should be major programs for education for professionals and the lay public. There should be a central co-ordination facility to monitor the prevalence of Neural tube defects both before antenatal diagnosis and at birth to determine changes in prevalence and to monitor for early warnings of the hazard.
- Research should be undertaken on the mechanisms by which folate/folic acid prevents Neural Tube Defects.