Spina bifida: causes and therapy

Spina bifida is a congenital malformation of the spine that can occur around the third week of pregnancy. Depending on the severity of the malformation, spina bifida has various consequences. You can read about causes, consequences and treatment options in this article.

 

Spina bifida, also known as “spina bifida”, refers to a congenital malformation in the spinal column. Spina bifida develops during the first few weeks of pregnancy when the embryo’s neural tube, an early stage of development of the spinal cord and brain, fails to close properly at one point. A gap forms, which sometimes only continues inward into the later vertebral arch (spina bifida occulta), but sometimes also exposes nerve fibers and the spinal cord (spina bifida aperta).

About one in 1,000 to 2,000 children in Germany is born with spina bifida. To prevent, women should  take folic acid supplements before and during the first few weeks of pregnancy . The risk of a neural tube defect can be demonstrably reduced with sufficient folic acid – usually a daily dose of 0.4 milligrams.

Even if spina bifida is detected quite early during normal ultrasound examinations , the consequences are difficult to assess. Depending on the severity and area of ​​the defect, those affected have to be prepared for hardly any, minor or severe restrictions.

Spina bifida and possible consequences

A “hidden” spina bifida, where only the vertebral arch is split, rarely has any impact. It is different when nerve fibers and the spinal cord are exposed due to the malformation and are damaged during pregnancy.

Treatment for spina bifida

Shortly after birth, the “open back” of the little patient is surgically closed. On the one hand, this is for cosmetic reasons and, on the other hand, it is intended to prevent further infections and injuries to the spinal cord.

A so-called shunt is used to avoid symptoms and consequential damage caused by accumulated brain water. A shunt is a type of artificial canal that drains the brain fluid into the atrium or the abdominal cavity. In the course of their lives, patients have to have their shunt replaced several times. Apart from that, however, it hardly causes any complaints.

Follow-up visits, hospital stays, physical therapy, and orthopedic surgeries are part of everyday life for many spina bifida patients. Parents need to be aware that these measures will alleviate, but not eliminate, the side effects of spina bifida. However, even with disability, many spina bifida patients lead happy lives and, with continued treatment, have a normal life expectancy.

  • Limited ability to walk, paraplegia: As a result of spina bifida, the ability to walk is more or less severely restricted. Not only the degree of severity, but also the area of ​​the malformation is decisive. Almost all patients with spina bifida in the sacrum area can walk – with the help of crutches or orthoses. At the level of the fifth lumbar vertebra, 90 percent of patients are able to walk. At the level of the fourth lumbar vertebra, it is about 60 percent. Spina bifida from the third lumbar vertebra can be expected to result in paraplegia in most patients.
  • Bladder and bowel dysfunction: Regardless of where spina bifida occurs, most patients have bladder and bowel dysfunction. Urinary tract infections are common and can also damage the kidneys over time.
  • Hydrocephalus (hydrocephalus): In 80 to 90 percent of patients, the cerebrospinal fluid cannot drain properly due to a displacement of the cerebellum and parts of the brain stem. As a result, hydrocephalus forms, a so-called hydrocephalus. Important to know: This disorder is not the same as a mental disability. Most children with spina bifida have perfectly normal intelligence.
Prenatal surgery for spina bifida

Fetal surgery enables parents to have spina bifida closed before the child is born. The procedure is performed between the 19th and 26th week of pregnancy.

• The advantages: The spinal cord does not suffer any new injuries during pregnancy (such as those caused by impacts against the wall of the uterus). The procedure also prevents further cerebrospinal fluid from escaping. Studies have shown that the typical symptoms caused by hydrocephalus are significantly reduced in children who have undergone prenatal surgery. At the same time, the chance of more mobility and feeling in the legs increased.

• The disadvantages: Critics point to an increased risk of premature birth . In rare cases, anesthesia intolerance, bleeding or infections can also occur after the procedure. In order to reduce the risks, the German Center for Fetal Surgery and Minimally Invasive Therapy (DZFT) works with a gentle method in which the procedure is performed through three small surgical tubes.

Parents who are considering prenatal surgery should seek advice from specialists to better assess the risks and opportunities.

help and advice

“Disability” is a word that raises many fears and questions among parents. Why we? Can we even do this? Who can help us? You can find advice and support, for example, at the Working Group Spina Bifida and Hydrocephalus eV (ASBH) . Our special also offers a lot of helpful information about life with a disabled child .

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