Spina bifida is a congenital neural tube defect where there is an incomplete closing of the backbone and membranes around the spinal cord. Normally, the neural tube forms early in the pregnancy and closes by the 28th day after conception.
Spina bifida is a congenital defect as a result of an insufficient development of baby’s spine and spinal cord in the womb, causing a gap in the spine.
The severity of this birth defect can vary to a large extent meaning that this gap can be so small that it does not cause any significant or visible problems or it can be so big that it can be a cause of a significant amount of disability.
Spina bifida can developed anywhere on the spine, on one or more vertebrae, but it is most common on the waist level. In most cases it develops on the thoracic, lumbar or sacral segment of the spine and usually includes 3 to 6 vertebrae.
The severity of spina bifida is graded from spina bifida occulta (without any visible defects) to visible defects like those including a sac or cyst (spina bifida cystica) and an entirely open spinal cord (rachischisis) with serious neurological consequences and possible death.
Such a cleft can also have a negative impact on the bladder, causing a vesicoureteral reflux and hydronephrosis, frequent urinary infections and ultimately an irreversible kidney damage. Where this medical condition is concerned, the prognosis depends on the severity of spina bifida and other medical issues caused by it. However, a special care is a presupposition of success.
Frequently asked questions
Spina bifida cystica or myelomeningocele (Meningocele) is the most serious and more common of the two forms of cystic spina bifida. The visible signs are a sac or cyst, rather like a large blister on the back, covered by a thin layer of skin. Pigmented marks or hair on the damaged area are also a possible.
With this type of spina bifida, the cyst not only contains tissue and cerebrospinal fluid but also nerves and part of the spinal cord. As a result, there is always some paralysis and loss of sensation below the damaged region, as well as problems with bowel and bladder movement control. In 70-90 % of cases of spina bifida, hydrocephalus is usually associated with it. There are collections of cerebrospinal fluid accompanied with a disbalance in swelling. As a consequence, babies have significantly larger heads. This fluid can put pressure on the brain and impair normal development.
Meningocele is a less serious and a more rare type of a spina bifida cystica. There is a collection of cerebrospinal liquid, but an impairment is usually less severe than with myelomeningocele.
Spina Bifida Occulta - This type of spina bifida is known as a ‘silent’ spina bifida since 15 % of people are not aware that they have it. Often, people only become aware that they have spina bifida occulta after having a back x-ray for an unrelated problem. It does not have any visible defect apart from a mole or a hole that sometimes appear and for the vast majority of those affected, having spina bifida occulta is of no consequence whatsoever. The spine as well as nerves are mostly intact and the pain and mild neurological problems are rare symptoms.
However, symptoms like turning in of the feet, numbness or lack of sensation on legs and arm movements, frequent urinary infections or bowel movement disbalances are possible.
Encephalocele – This is a sac which is formed when the bones of the skull fail to develop. It may contain only cerebrospinal fluid or part of the brain may also be present in the sac, resulting in brain damage. Life expectancy largely depends on a surgical procedure with mental deformities as side-effects.
Anencephaly is a type of spina bifida where the brain does not develop properly or is absent, and the baby is either still born or dies shortly after birth.
At present causation is unknown and research continues, but it is probably related to both genetic and environmental factors. Although there is no proof of what causes spina bifida, medical doctors have identified a number of risk factors: women with diabetes who don’t control their blood sugar well have a higher risk of having a baby with spina bifida; obesity – pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida; increased body temperature in pregnancy; anti-seizure medications; a low socio-economic status etc.
Taking folic acid supplements during the first trimester can reduce the risk of spina bifida in unborn babies up to 70 %. Since folic acid is a soluble B vitamin that does not stay in the body for too long, it should be taken daily for at least one month prior to conception and through to the 12th week of pregnancy.
Until several decades ago, children with more serious types of spina bifida would rarely survive until the early adulthood. Such a short life span was usually a consequence of infections caused by an inappropriate care, especially where bladder and bowel functions are concerned. Today, 75% of children who were born with an advanced version of this disability can survive early adulthood and can continue to live for many decades. However, they require ongoing supportive care in order to thrive.
Some types of this defect, like hydrocephalus, are more serious, more visible and demand a more complex treatment approach, but so-called mild problems like urinary incontinence and obstipation should also not be neglected.
Regular emptying of the bladder, due to a lack of activity, is extremely important for children and adults with spina bifida in order to prevent kidney disorders and urinary infections. The same approach should be applied for bowel movements.
A proper care for these bodily functions is directly related to the life span and the quality of living.
- Neurosurgery for hydrocephalus
- A proper care for urinary and defecation functions
- A special care and treatment for skin problems
- Physiotherapy for core and back muscles to reduce unwanted consequences
- Organizing daily care, kindergartens, schools
- Encouraging independent functioning wherever possible
- Social integration of the child
- Securing medical aids (catheters, wheelchairs…)
- Transportation organization