Spina bifida (open back)

Spina bifida - an innate neural tube malformation

Spina bifida (commonly known as "open back" or "vertebral cleft") is a common developmental disorder of the neural tube in early embryonic development. This malformation causes developmental damage to the spine and spinal cord. Depending on the extent and position of the neural tube defect, the effects are quite different. Risk-minimizing measures, such as the intake of folic acid, early diagnosis in the womb and various treatment methods make it possible to prevent this malformation to a certain extent and to give surviving children a relatively high quality of life and life expectancy.

contents

• Spina bifida - an innate neural tube malformation
• A short overview
• definition
• symptoms
• causes
• diagnosis
• treatment
• Naturopathic treatment
• Current state of research

A short overview

The following summarizes what exactly characterizes the neural tube defect of a spina bifida and how to best reduce the risk for this malformation. Every woman with a desire to have children should be informed about this and receive medical advice. Subsequently, the detailed descriptions of the clinical picture and the corresponding therapeutic options are listed.

In about one in every thousand children spina bifida develops during the third to fourth week of pregnancy. (Image: VadimGuzhva / fotolia.com)

What is an open back??

The term "open back" in the German language neural tube malformations in the developmental phases of the early embryonic period are summarized, the developmental disorders of a so-called spina bifida are assigned. This defect manifests already in the third to fourth week of pregnancy, in that the neural tube does not close completely. The resulting damage to the spinal column (spinal column), and possibly also to the spinal cord skins and the spinal cord itself, lead to various manifestations and severity of the disease. In addition to an externally invisible and usually lighter form, the spina bifida occulta, it is far more common to open and visible malformations, the spina bifida aperta. While simpler forms may remain symptom-free or often show only mild symptoms, a spina bifida aperta often causes severe symptoms and far-reaching consequences that severely impair the life of newborns.

Most important prevention: folic acid

Every pregnant woman is at risk of developing a spina bifida in her unborn child at approximately 1: 1000. So far, the biggest risk factor for this type of malformation is the lack of folate in early embryonic development. Therefore, the most important preventive measure is that women of childbearing potential, and especially women who want to and can become pregnant, use folic acid supplements to increase the intake and availability of folate. Official recommendation for this target group is to start at least four weeks before pregnancy with a daily intake of 400 micrograms of folate equivalents. The intake should be continued until the end of the first trimester of pregnancy.

definition

The term spina bifida comes from the Latin and means "split spinous process", which refers to the backward spinous process of the vertebral arch (Processus spinosus). In German, the disease is also referred to as a "vertebral column" or more often as an "open back". Strictly speaking, however, the term "open back" only describes one of the existing forms of the disease, the so-called spina bifida aperta.

Spina bifida is the second most common congenital malformation, in Central Europe about every 1,000th newborn is affected. Girls are more likely to have this disorder than boys.

In the open form of neural tube malformation, the spina bifida aperta, a skin-covered cyst usually forms over the protruding spinal cord. (Image: freshidea / fotolia.com)

Spina bifida aperta

In addition to the vertebral arches, spinal meninges (meninges spinales) and possibly the spinal cord are also included in the malformations in this open and visible form of the disease. These bulge visibly outward. In the simplest variant of this form, the so-called meningocele, only the spinal cord skins pass through a gap in the vertebral arch. The position of the spinal cord itself is not changed. This type of malformation is manifested by a skin-covered cyst.

In the severe and most common form of manifestation, the meningomyelocele, the spine is split and in addition to spinal cord membranes, parts of the spinal cord (myelon) also emerge to the outside. The resulting protrusion is usually covered only by a thin skin. In rare cases, the spinal cord is even completely free (Rachischisis).

Spina bifida occulta

Spina bifida occulta is the name of the obstructive or invisible disease. There is an arch gap, but the spinal cord and spinal cord are not affected. This expression does not appear externally and is therefore often discovered only accidentally in examinations of the back.

A dermal sinus is the easiest form of clefting, usually without symptoms. Further consequential damages are not completely excluded. The small gait between the skin surface and spinal canal usually shows up as a small pore on the back. Since this minimal opening is a potential source of infection, this is often closed surgically.

symptoms

In the rather light and invisible form, it is possible that (initially) no symptoms and the disease may thus remain undetected.

However, if it is the open form, the spina bifida aperta, and the spinal cord and spinal cord are affected, it can have a mild to very severe impact on those affected. The discomfort caused is quite different and depends on the location of the cleft formation (for example lumbar or thoracic vertebra area) as well as on the presence and extent of spinal cord damage.

Various symptoms accompany the clinical picture, from organ dysfunction to complete paraplegia. (Image: Dan Race / fotolia.com)

By mild complaints one understands in this context impairments of the walking ability in different strength. However, the symptoms can also be serious. They range from organ dysfunction to complete paraplegia.

Are affected by the damage to the spinal cord, the internal organs, it usually leads to dysfunction of the stomach, intestine and bladder. In case of a disturbed bladder function, emptying disorders of the bladder (incontinence, transit bladder and overflow bladder) and urinary tract infections frequently occur in the course of the disease. In the long term, this can impair kidney function. In addition, sensory disturbances, for example for pain, can occur.

Sequelae and complications

Skeletal deformities and joint malpositions occur in connection with damage to the bony spine or as a result of muscle paralysis. A well-known consequence is the so-called clubfoot.

Often a severe spina bifida aperta causes a circulatory or drainage disturbance of cerebrospinal fluid (cerebrospinal fluid). The resulting CSF accumulation causes the ventricles (brain chambers) to expand and a so-called hydrocephalus (hydrocephalus) forms. This can already arise before birth. Depending on the severity, this may lead to epileptic seizures in the further course.

Chiari malformation

The term "Chiari malformation" (after the first describer Hans von Chiari) summarizes various changes in the cerebellum, which are predominantly associated with hydrocephalus. In one particular form, the so-called Chiari malformation type II, there is a displacement of the cerebellum and a malformation of the brainstem. This disease almost always occurs with spina bifida in the lumbar region and in about 80 percent of those affected is a hydrocephalus.

Intake of folic acid preparations before and during early pregnancy has been shown to reduce the risk of neutron tube defect in unborn children. (Image: rosinka79 / fotolia.com)

causes

So far, the exact causes of this defect on the spine are not yet known. However, it is pointed out that genetic factors and external influences play a certain role in this prenatal malformation.

Risk factors include illness and medication during pregnancy. If there is a poorly controlled diabetes mellitus in early pregnancy, or if a woman develops gestational diabetes at this time, this may favor the occurrence of spina bifida. Also, epilepsy, with the use of antiepileptic drugs, fever and obesity in the first weeks of pregnancy are associated with an increased risk of disease.

Folate deficiency carries a high risk

The most important and well-known risk factor, however, is a deficiency of folate, which belongs to the group of B vitamins and plays an important role in growth processes, cell divisions and blood formation. The likelihood of neural tube defects due to folate deficiency can be significantly reduced by taking folic acid supplements. Folic acid is the synthetically produced form of the vitamin folate. It has been shown that the risk is reduced by 70 percent, if sufficient substitution of folic acid takes place before pregnancy. According to the German Nutrition Society, every woman is recommended to take 400 micrograms of folate equivalents, usually in tablet form, at least four weeks before and until the end of the first trimester of pregnancy. The increased need for folate shortly before and during pregnancy can often not be met, even with a targeted diet.

Taking into account different statements and studies on whether too much folic acid or too much folate could cause any health damage, the European Food Safety Authority (EFSA) has defined safe daily maximum levels. This is for adults at 1000 micrograms per day. However, this is not an upper limit to prevent possible risks of excessive intake of folic acid. Rather, this restriction is intended to contribute to the fact that neurological symptoms of a possible vitamin B12 deficiency are not covered.

Spina bifida can also be promoted by diabetes during pregnancy. (Picture: artur photo / fotolia.com)

diagnosis

Various studies have shown signs of spina bifida frequently before birth. In prenatal ultrasound, a reduced circumference of the skull, enlarged cerebral cavities, and signs on the head and brain (Lemon Sign, Banana Sign) indicate the malformation. The so-called triple test, a blood test between the 15th and 20th week of gestation, also provides evidence of the possible presence of an open back.

Furthermore, an additional amniotic fluid examination can help to confirm the first suspicion. If certain hormones and enzymes are detected, conclusions can be drawn on the likelihood of an existing neural tube defect. However, a reliable diagnosis can not be made with 100% certainty at this time. It is not uncommon for a hydrocephalus to be detected at a later stage in pregnancy and only then is a neural tube defect detected. The possible effects can not yet be assessed. Only the location of the spine malformation allows assumptions about possible future impairments.

After birth, the visible malformations on the back are easily recognizable. Also, skin changes (abnormal hairiness), dimples or appendages in the midline can provide clues. Various methods of investigation are available to further determine the severity of the problem. Among others, the following methods are used:

• general neurological, orthopedic and ophthalmological examinations,
• roentgen,
• Computed tomography (CT),
• Ultrasonic,
• Magnetic Resonance Imaging (MRI).

The situation is different with the hidden form, the spina bifida occulta. This is usually only discovered by accident during an X-ray examination of the spine or it often remains unrecognized.

Certain signs in a prenatal ultrasound can indicate early on a present neural tube defect. (Image: serhiibobyk / fotolia.com)

treatment

The treatment of spina bifida depends on the type and extent of the malformation present - as far as it can be determined. In the case of mild malformations with minor effects or a completely symptom-free course of the disease, treatment can be dispensed with altogether. In the more severe, open forms, the bulging structures are usually closed by surgery to minimize the risk of infection and increase the chances of survival. An improvement of the disease is not given by this.

Under certain circumstances, surgeries can take place even before birth. This fetal surgery procedure originates from the USA and has hardly been practiced in Europe so far. In 2016, doctors at Heidelberg University Hospital operated on a baby with an open back in the womb. The nerves and spinal cord structures are better protected in the womb. If they succeed in closing them, it is possible that the changes will regress and the effects and consequential damage will be prevented or minimized. The operation also poses other risks for the unborn child and its further development.

Spinal and spinal cord surgery often involves the formation of scars and adhesions called "tethered cord". As the growth progresses, tension is created on the spinal cord and nerve fibers. This can cause other neurological disorders that may require follow-up surgery.

Treatment of a water head by a shunt

As a rule, however, surgical interventions do not take place until after delivery. It must be decided individually whether an operation is advisable in the first days or in the first week of life. If a neonate has hydrocephalus, a cerebral shark or liquor shunt is usually used to regulate the increased intracranial pressure. In a shunt, the excess brain fluid is removed within the body. A plastic tube with integrated valves is implanted in the brain and placed under the skin, for example, into the abdominal cavity.

Possible deformations of the skeleton can be treated with orthopedic devices. (Image: Dan Race / fotolia.com)

If the bladder is affected by the disease may also be an operation instead, but it often come here medication or a catheter into consideration. It should be prevented, above all, that could also be affected by the existing dysfunction of the bladder and the kidneys.

Possible skeletal and joint deformities can be counteracted with physiotherapy and orthopedic devices (such as splints and corsets) to remedy certain disorders as much as possible. In severe cases corrective interventions may also be considered. An open back is not completely curable. Those affected need lifelong individual medical care and some people rely on a wheelchair.

Naturopathic treatment

Naturopathic methods can be used to assist in some of the possible symptoms, such as the treatment of urinary tract infections. The possibilities are limited. Due to the origin of the symptoms, which often causes a complicated malformation with consequences, in most cases spina bifida requires special and permanent medical treatment.

Current state of research

The causes of spina bifida are still largely unknown and are the subject of international research. Also to the far-reaching consequences and symptoms, new studies are always carried out. The findings should help to increase the quality of life and life expectancy of those affected. Experts in the US are pioneering the new prenatal surgery treatments. A US study has shown that the benefits of spina bifida in the womb clearly outweigh surgery after childbirth.

For the first time in 2016, such an intervention with international expertise was carried out in Heidelberg. Such prenatal interventions are also practiced at the German Center for Fetal Surgery and Minimally Invasive Therapy.

A novel and promising treatment for spina bifida is a prenatal surgical procedure developed by experts in the United States. (Image: Gorodenkoff / fotolia.com)

When discussing whether severe overweighting of pregnant women might be the cause of spina bifida, it does not focus on obesity itself, but rather on risk factors associated with obesity (for example, diabetes mellitus)..

Currently there are still differing opinions in Germany about the benefits and risks of a basic folic acid fortification in basic foods (such as bread). In other countries, such as the US and Canada, flour has been fortified with folic acid for years. According to various studies, a reduction of neural tube defects and other diseases that manifest during pregnancy has been observed in this context. Nevertheless, a recently published statement by the Federal Institute for Risk Assessment recommends that the intake of folic acid in Germany should not be increased across the board but should be specifically increased in women of childbearing age and in early pregnancy. This not only sufficiently prevents spina bifida, but also takes into account the potential health risks for other population groups, which are still unexplained, with a high intake of folic acid. (tf, cs; updated on 17/08/2018)

To read more:
Nationwide self-help group ASbH - Arbeitsgemeinschaft Spina Bifida and Hydrocephalus e. V.