Spina Bifida

Key points

Spina bifida is an incurable genetic malformation affecting the spinal column: it is a disease of the central nervous system in which some vertebrae, not completing their development, favor the exit of meninges and / or spinal cord from a fissure in the spine.

Spina bifida: causes

The cause of spina bifida lies in a defect of closure of the neural tube, the structure from which the CNS originates. Spina bifida is a genetic anomaly, probably influenced by: folic acid deficiency during pregnancy, folate metabolic abnormalities, alcoholism, obesity, pre-gestational diabetes.

Spina bifida: classification and symptoms

1. SPINA BIFIDA OCCULTA: mild form of spina bifida, often asymptomatic. Some patients have a slight asymmetry in their legs.
2. MENINGOCELE: the meninges are set in the intravertebral space. This spina bifida causes: hernia of the dural sac, flaccid paralysis, deformity of the spine, hydrocephalus, convulsions.
3. MYELOMENINGOCELE: more severe form of spina bifida, also involving the spinal cord. The most recurrent symptoms are bladder / intestinal changes, convulsions, muscle weakness, paralysis, deformity of the limbs, walking impairment, scoliosis.

Spina bifida: diagnosis

Early diagnosis is essential for immediate intervention. The most used diagnostic tests are: amniocentesis, ultrasound ultrasound, blood tests and alpha-fetoprotein tests.

Spina bifida: cures and treatments

There is no complete cure for spina bifida. Several surgical treatments can alleviate the problem. The best therapy is prevention: before and during pregnancy, the future mother must supplement the diet with folic acid supplementation.

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Spina bifida: definition

Spina bifida is a severe congenital malformation of the spinal column and spinal cord, unfortunately incurable. Typical of the early stages of embryonic development, spina bifida is an expression of a neural tube closure defect, the structure from which the Central Nervous System originates.

Children suffering from spina bifida have an evident anomaly in the vertebral arch: some vertebrae do not complete their development; therefore, from the spine, a cleft (cleft) is created from which meninges, spinal cord or both can escape. The two vertebrae not accurately "welded" prevent the vertebral column from developing adequately and completely: visibly, the particular anatomical conformation gives the impression that the vertebral arch is bifid.

Spina bifida can appear anywhere on the column, from the base of the skull to the sacrum; despite what has been said, in most cases diagnosed it affects the lumbar segment.

In this article we will try to shed light on the general characteristics of this complex and multifactorial pathology, answering to frequently asked questions that concern many pregnant women: "Is spina bifida a frequent anomaly? What causes are at its origins? What signs and symptoms Do you have an affected person? Can you heal from spina bifida? "

Incidence

From what is reported in the scientific journal The Lancet, it seems that spina bifida prevails among the female sex. In a study conducted in 2008 in Great Britain, 32 cases of spina bifida were diagnosed. It is important to point out that the incidence of the disease is extremely variable, especially based on the country and race. The magazine JAMA, for example, reports some very interesting data:

• France: 0.7 children per 10, 000 healthy births are affected by spina bifida
• Canada: 0.9 children per 10, 000 healthy individuals are affected by spina bifida
• Norway, Hungary, Czechoslovakia, Japan: 1-6 cases of children with spina bifida every 10, 000 live births
• Arab Emirates: 7.7 children per 10, 000 births are affected by spina bifida
• South America: 11.7 children per 10, 000 births are affected by spina bifida
• Ireland and Wales: the incidence rate of spina bifida is extremely high. It is estimated that 3-4 children per 1, 000 healthy newborns develop the most severe variant of spina bifida, with protrusion of meninges and spinal cord (myelomeningocele).

Generally speaking, the disease occurs in 1.3 children every 10, 000 births.

In recent years the incidence rate of spina bifida has significantly decreased, thanks to the awareness campaign on the disease, aimed at promoting folic acid supplementation during pregnancy as the most effective treatment capable of excellent prevention of spina bifida.

Causes and risk factors

Since this is a genetic defect, it is not possible to ascertain with absolute certainty the cause implicated in the origin of spina bifida. It is assumed that a network of environmental and genetic elements may predispose the fetus to spina bifida:

1. First of all, the LACK OF FOLIC ACID in the parturient (also and especially during the pre-conception period in the vicinity of fertilization) seems to be crucial in triggering complications related to the development of the fetal spine.
2. The presence of METABOLIC ANOMALIES OF FOLATES in the fetus can heavily affect the formation of spina bifida.
3. Probably, also some CHROMOSOMIC ANOMALIES can predispose the fetus to spina bifida. The ideally attributed diseases are: Patau syndrome (or trisomy 13, a rare genetic disease in which the affected subject has three copies of chromosome 13 instead of 2), Edwards syndrome (the affected patient has 3 chromosomes 18 instead of 2) and Down syndrome .
4. Another possible element predisposing the spina bifida is the mother's DIABETES. It is estimated that the risk of giving birth to a child with spina bifida is 2-10 times higher in women with pre-gestational diabetes than in healthy ones.
5. Also the ALCOHOLISM and the administration of MEDICINES like Sodium valproate (a drug used to cure convulsions) and carbamazepines (used in particular for the treatment of epilepsy) seem to increase the risk of spina bifida in the unborn child.
6. If the fruit of the first pregnancy is a child with spina bifida, probably the brother will also be affected by the same disorder.
7. Maternal OBESITY and diseases characterized by high FEBBRE and for a long time may predispose the fetus to spina bifida. It seems that the frequent use of saunas, Turkish baths, whirlpools with hot water and tanning beds can somehow predispose the fetus to spina bifida. However, it is not possible to give a certain and indisputable explanation to this correlation. HYPOTHESIS: UVAs, which have a high penetration power, and heat destroy the blood folates, compromising the reproduction of the species (reduction of male fertility, greater risk of spina bifida) → dark skin prevents the destruction of folate caused by UV and is therefore an advantageous feature for equatorial populations.

Therefore, a multifactorial genesis, not yet fully demonstrated, is attributed to spina bifida. What is ascertained is that, although the vast majority of children with spina bifida are born of healthy parents, the hereditary component plays a leading role.