Spina bifida, or open back in German, is a congenital neural tube defect that manifests itself by a malformation of the spine and spinal cord. Spina bifida is the second most common congenital malformation after heart defects, affecting female individuals slightly more often than males.
What is spina bifida?
Spina bifida, or open back, is the term used to describe a congenital neural tube defect that is manifested by a malformation of the spinal cord and spine that develops from the neural tube. During embryonic development, the medullary groove (neural tube) does not close completely, resulting in the formation of a cleft in the lower spine (usually in the lumbar and sacral regions). In spina bifida, two forms are distinguished on the basis of different degrees of severity. For example, in spina bifida aperta (open spina bifida), both the vertebral arches and the spinal cord and its meninges are involved in the cleft formation, whereas in the more common spina bifida occulta (hidden spina bifida), the spinal cord is not involved and is largely normally developed and functional.
Causes
Spina bifida manifests when the embryonic medullary groove (neural tube) fails to close completely during the third to fourth week of gestation, resulting in the observation of a cleft 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 elucidated. Since the risk of spina bifida is increased when the disease is present within the family, genetic factors are assumed. In addition, a hereditary folic acid deficiency (lack of vitamin B) or disturbed folic acid metabolism within pregnancy has been shown to play a significant role with regard to the development of spina bifida. Certain environmental factors, such as the use of antiepileptic drugs or poorly controlled diabetes mellitus in the early stages of pregnancy, may also increase the risk of spina bifida.
Symptoms, complaints, and signs
Symptoms of spina bifida can vary widely, both in their nature and in their severity. The symptoms that occur depend on the area of the spine where the malformation is located and how severely the spinal cord is affected. If the vertebrae are only incompletely closed or not closed at all and neither the spinal meninges nor the spinal cord squeeze outward, patients usually have no symptoms. If the open gap at the vertebral arch is larger, so that the spinal cord and spinal meninges bulge outward, various effects are possible. Depending on the location of the malformation, paralysis of muscles, dysfunction of the stomach and intestines, or impaired perception may occur. The sensation of pain may be reduced or absent. Sensory disturbances also occur. Muscle paralysis can cause skeletal malformations such as joint malalignment, spinal curvature (scoliosis), or foot malformations such as clubfoot or heelfoot. If the bladder function is also disturbed, frequent urinary tract infections, incontinence or an overflow bladder can be the result. The latter cannot be emptied or cannot be emptied completely. If the spinal cord bulges so far outward that it pulls the cerebellum and brain downward, the circulation of cerebrospinal fluid (CSF) is impaired. This causes hydrocephalus (water on the brain), which can cause partial mental performance problems or even epileptic seizures.
Diagnosis and course
Usually, spina bifida is detected during pregnancy as part of a sonography (ultrasound examination). The likelihood of spina bifida can be estimated with the help of the so-called triple test, in which conclusions about possible developmental disorders in the child are drawn at the 16th week of pregnancy on the basis of the concentration of three specific hormones in the serum of the pregnant woman, although the extent of the malformation can only be determined postnatally by additional tests. Postnatally, spina bifida aperta can be diagnosed by the clearly visible malformation in the spinal region, in contrast to spina bifida occulta, which is often diagnosed by chance. The course of the disease depends strongly on the extent of the neural tube malformation.In case of spina bifida occulta, usually only mild symptoms (abnormal hairiness, pigmentation) are observed. In open spina bifida, on the other hand, the course is more severe and may be associated with much more severe complications (inflammation of the spinal cord and/or spinal meninges, inflammation of the kidneys, hydrocephalus, osteoarthritis).
Complications
Severe spina bifida can result in a number of complications. Sometimes the effects cannot be prevented even with the help of orthopedic surgical therapeutic measures. The most common manifestations of open spine include inflammation of the spinal meninges 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 sequelae ultimately depends on how many nerve fibers of the spinal cord are affected. If there is damage to the nerve fibers, as in spina bifida aperta, there is a risk of serious disabilities, whereas spina bifida occulta does not usually cause serious symptoms. Because spina bifida aperta mostly manifests in the lower back, there are often sensory disturbances and paralysis of the legs. Even impairments of pain sensation are conceivable. It is not uncommon for affected children to suffer from club feet and require a wheelchair because they are unable to walk. Another serious consequence is untreated hydrocephalus. For example, there is a risk that the 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, life is at risk. Also among the effects of spina bifida is scoliosis (curvature of the spine). Sometimes the rectum and bladder are also affected, resulting in fecal or urinary incontinence. This is often accompanied by urinary tract infections.
When should you see a doctor?
A doctor should always be consulted for spina bifida. Only early detection and treatment of this complaint can prevent further complications. For this reason, early detection is very important in this case and is at the forefront of treatment. A doctor should be consulted for spina bifida if the affected person suffers from severe back pain. As a rule, paralysis also occurs in various muscles, so that the patient’s everyday life is considerably restricted. Perception is also impaired, with most sufferers also suffering from sensory disturbances. In severe cases, certain extremities can no longer be moved at all. If these complaints occur, spina bifida must be examined by a physician in any case. Incontinence or a severe curvature of the spine can also indicate spina bifida and must also be examined by a doctor. Many affected persons also show epileptic seizures. As a rule, spina bifida can be examined and treated by a general practitioner. Whether this will result in a complete cure cannot be universally predicted. However, in the event of an epileptic seizure, an emergency physician should be called immediately or the hospital should be visited directly.
Treatment and therapy
Therapy for spina bifida depends on the extent and type of malformation. For example, spina bifida occulta, a mild form of the condition, is in many cases clinically or symptomatically inconspicuous and requires no special therapeutic measures. In contrast, a pronounced neural tube defect (open spina bifida) is usually treated surgically within 24 to 48 hours and closed if necessary to minimize the risk of inflammation and increase the chances of survival of the affected child. Nevertheless, neurological impairments (sensory disturbances, paralysis trophic disturbances) as well as later complications cannot always be excluded. Possible joint and foot deformities can be corrected orthopedically, physiotherapeutically and/or surgically. If hydrocephalus (hydrocephalus) is also present, a shunt (catheter) is surgically placed to help drain excess cerebrospinal fluid (Liqour) and minimize pressure on the brain. 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 kidney inflammation).In addition, family members of affected individuals as well as the affected children themselves should receive psychological care, especially in severe forms of spina bifida, and should be accompanied by appropriate support programs in case of impairment of mental abilities.
Prevention
Because the causes of spina bifida have not been conclusively determined, preventive measures are primarily limited to an additional intake of folic acid (vitamin B) beforehand as well as during pregnancy. It is generally assumed that the risk of spina bifida can be reduced by about 50 percent through the additional intake of vitamin B.
Follow-up
In spina bifida, the options and measures for follow-up care are usually significantly limited and are thereby available to the affected person only in very few cases. Therefore, the affected person should ideally see a doctor early and initiate treatment to avoid other complications or discomforts that could complicate the affected person’s daily life. Since spina bifida is a congenital disease, it usually cannot be completely cured. If there is a desire to have children, it is recommended to have genetic testing and counseling to prevent the recurrence of this disease in the descendants. Various interventions are usually necessary to alleviate the symptoms. In any case, the affected person should rest and take it easy after such an intervention. However, efforts or stressful and physical activities should be refrained from as far as possible. In some cases, spina bifida reduces the life expectancy of the affected person.
Here’s what you can do yourself
The condition is treated immediately with the birth of the affected person. By its very nature, the infant cannot take any self-help measures that will help improve his or her situation. The pregnant woman should participate in all preventive examinations offered during pregnancy. During an ultrasound examination, the present health disorder of the fetus can already be perceived by a physician. It is important at this stage to obtain comprehensive information about the present disorder and the possible therapeutic measures. The birth should take place in an inpatient setting so that the best possible medical steps can be taken immediately after delivery. The expectant mother should therefore visit a hospital well in advance of the expected date of birth. Since the chances of survival of the offspring with this condition are reduced, cooperation with a physician is imperative. It is already necessary to find out about possible developments. The parents-to-be should be adequately prepared for the new situation by doctors as well as on their own responsibility. In order to cope with the disease in everyday life, emotional stability and sufficient support from relatives or friends are required. These steps should be taken into account and planned before the due date so that no situations of psychological overload occur. If necessary, therapeutic help should be sought.
