Spina Bifida (Open Spine)

Spina Bifida (Open Spine)

Spina bifida, or open back in German, is a congenital neural tube defect that manifests itself as a malformation of the spine and spinal cord. Spina bifida is the second most common congenital malformation after heart defects, with females being affected slightly more often than males.

What is spina bifida?

A congenital neural tube defect is referred to as spina bifida or open spine, which is manifested by a malformation of the spinal cord developing from the neural tube and the spine. For what does the abbreviation hd stand for, please visit usvsukenglish.com.

During embryonic development, the medullar trough (neural tube) does not close completely, leading to the formation of a gap in the lower spine (usually in the lumbar and sacrum areas). With spina bifida, two forms are distinguished based on different degrees of severity.

In a spina bifida aperta (open spina bifida), both the vertebral arches and the spinal cord and its spinal cord membranes (meninges) are involved in the formation of the gap, while in the more common spina bifida occulta (hidden spina bifida), the spinal cord is not involved and largely is normally formed and functional.

Causes

Spina bifida manifests itself when the embryonic medullary groove (neural tube) does not completely close in the third to fourth week of pregnancy, so that clefting can be observed in the lower part of the spine with or without spinal cord involvement.

The causes of this closure disorder in spina bifida have not yet been fully clarified. Since the risk of spina bifida is increased when the disease runs in the family, genetic factors are assumed.

In addition, a hereditary folic acid deficiency (lack of vitamin B ) or disturbed folic acid metabolism during pregnancy has been shown to play an important role in the development of spina bifida.

Certain environmental factors, such as taking antiepileptic drugs or poorly controlled diabetes mellitus early in pregnancy, can also increase the risk of spina bifida.

Symptoms, Ailments & Signs

The symptoms of spina bifida can be very different, both in their type and in their severity. The symptoms that occur depend on the area of ​​the spine in which the malformation is located and how badly the spinal cord is affected. If the vertebrae are not closed completely or not at all and neither the membranes of the spinal cord nor the spinal cord are squeezed outwards, the patients usually have no symptoms.

If the open gap at the vertebral arch is larger, so that the spinal cord and spinal cord membranes bulge outwards, various effects are possible. Depending on the location of the malformation, paralysis of the muscles, functional disorders of the stomach and intestines or impaired perception occur. The sensation of pain may be reduced or not present at all. Sensory disorders also occur.

The muscle paralysis can cause malformations of the skeleton such as joint misalignment, spinal curvature (scoliosis) or foot malpositions such as clubfoot or heeled foot. If the bladder function is also disturbed, frequent urinary tract infections, incontinence or an overflow bladder can be the result. The latter cannot or not completely be emptied.

If the spinal cord bulges so far outwards that it pulls the cerebellum and brain downwards, the circulation of the cerebrospinal fluid (CSF) is impaired. This causes hydrocephalus (water on the head), which can trigger mental disorders or even epileptic seizures.

Diagnosis & History

As a rule, spina bifida is already diagnosed during pregnancy as part of a sonography (ultrasound examination). The probability of spina bifida can be estimated with the help of the so-called triple test, in which in the 16th week of pregnancy conclusions can be drawn about possible developmental disorders in the child based on the concentration of three specific hormones in the serum of the pregnant woman, with the extent of the malformation only being determined after birth can be determined by additional tests.

In contrast to spina bifida occulta, which is often diagnosed by accident, spina bifida aperta can be diagnosed postnatally by the clearly visible malformation in the spinal column area. The course of the disease depends heavily on the extent of the neural tube malformation. In the case of spina bifida occulta, only mild symptoms (abnormal hair, pigmentation) are usually observed. In the case of an open spina bifida, on the other hand, the course is more serious and can be associated with significantly greater complications (inflammation of the spinal cord and/or the membranes of the spinal cord, kidney inflammation, hydrocephalus, arthrosis ).

Complications

Severe spina bifida can cause a number of complications. Sometimes the effects cannot be prevented even with the help of orthopedic-surgical therapy measures. The most common manifestations of open spine include inflammation of the spinal cord membranes or spinal cord. In addition, there is a risk of inflammation of the kidneys or arthrosis due to premature wear and tear of the joints.

The extent of the after-effects ultimately depends on how many nerve fibers in the spinal cord are affected. If the nerve fibers are damaged, as in open spina bifida, there is a risk of serious disability, while occult spina bifida does not normally cause any serious symptoms. Because spina bifida aperta usually appears in the lower back area, it often leads to sensory disturbances and paralysis in the legs.

Even impairments of pain perception are conceivable. It is not uncommon for the affected children to suffer from clubfeet and need a wheelchair because they cannot walk. Another serious consequence is an untreated hydrocephalus. There is a risk that intracranial pressure will displace brain tissue and damage areas that are vital, such as hearing or the ability to see. If the brain is irreparably damaged, there is a risk of death.

Another effect of spina bifida is scoliosis (curvature of the spine). Sometimes the rectum and bladder are also affected, resulting in faecal or urinary incontinence. This is often accompanied by urinary tract infections.

When should you go to the doctor?

A doctor should always be consulted for spina bifida. Further complications can only be prevented by early detection and treatment of this complaint. For this reason, early detection is very important and is at the forefront of treatment. A doctor should be consulted for spina bifida if the person affected suffers from severe back problems. As a rule, there are also paralysis of various muscles, so that the patient’s everyday life is significantly restricted. Perception is also impaired, with most of those affected also suffering from sensory disturbances.

In severe cases, certain extremities can no longer be moved at all. If these symptoms occur, the spina bifida must be examined by a doctor in any case. Incontinence or a strong curvature of the spine can also indicate spina bifida and must also be examined by a doctor. Many sufferers also show epileptic seizures. As a rule, spina bifida can be examined and treated by a general practitioner. It cannot be universally predicted whether this will lead to complete healing. In the event of an epileptic seizure, however, an ambulance should be called immediately or you should go straight to the hospital.

Treatment & Therapy

Therapy for spina bifida depends on the extent and type of malformation. Spina bifida occulta, as a mild form of the disease, is in many cases clinically or symptomatically inconspicuous and does not require any special therapeutic measures. In contrast, a pronounced neural tube defect (open spina bifida) is usually treated surgically within 24 to 48 hours and, if necessary, closed in order to minimize the risk of inflammation and increase the affected child’s chances of survival.

Nevertheless, neurological impairments ( sensory disorders, paralysis, trophic disorders) and subsequent complications cannot always be ruled out. Possible joint and foot deformations can be corrected orthopaedically, physiotherapeutically and/or surgically. If hydrocephalus (water on the brain) is also present, a shunt (catheter) is surgically placed, with the help of which excess cerebral fluid (Liqour) can be drained and the pressure on the brain can be minimized.

If spina bifida correlates with a bladder emptying disorder, both medication and a catheter or surgical intervention can be considered to prevent possible infections (including nephritis ). In addition, family members of those affected and the affected children themselves, especially in severe forms of spina bifida, should receive psychological care and, in the case of impairments of mental abilities, be accompanied by appropriate support programs.

Prevention

Since the causes of spina bifida have not been finally clarified, the preventive measures are primarily limited to an additional intake of folic acid (vitamin B) before and during pregnancy. It is generally assumed that the risk of spina bifida can be reduced by around 50 percent with the additional intake of vitamin B.

Aftercare

In the case of spina bifida, the options and measures for aftercare are usually significantly limited and are only available to those affected in very few cases. Therefore, the affected person should ideally consult a doctor at an early stage and initiate treatment so that there are no other complications or symptoms that could make everyday life difficult for the person affected.

Since spina bifida is a congenital disease, it cannot usually be completely cured. If there is a desire to have children, it is advisable to have a genetic test and counseling carried out in order to prevent the recurrence of this disease in the offspring. Various interventions are usually necessary to alleviate the symptoms.

The person concerned should definitely rest and rest after such an operation. However, exertion or stressful and physical activities should be avoided as far as possible. In some cases, spina bifida reduces the life expectancy of the affected person.

You can do that yourself

The disease is treated as soon as the person concerned is born. Naturally, the infant cannot take any self-help measures that contribute to an improvement in his situation. The pregnant woman should take part in all preventive medical check-ups that are offered during pregnancy. During an ultrasound examination, the existing health disorder of the fetus can already be perceived by a doctor. It is important in this phase that comprehensive information about the present disease and the possible therapeutic measures is found out.

The birth should take place in an inpatient environment so that the best possible medical steps can be taken immediately after the birth. The mother-to-be should therefore visit a hospital well in advance of the expected date of birth. Since the chances of survival of offspring with this disease are reduced, cooperation with a doctor is imperative. It is already possible to find out what possible developments are imminent. The parents-to-be should prepare themselves adequately for the new situation by doctors and on their own responsibility.

Emotional stability and sufficient support from relatives or friends are required to cope with the disease in everyday life. These steps should be taken into account and planned before the baby is due to give birth, so that there are no situations of mental overload. Therapeutic help is available if necessary.

Spina Bifida (Open Spine)