SPINA BIFIDA

History of Spina Bifida

➔​ Spina bifida has existed for as long as human history. Evidence of children with characteristic features of spina bifida has been found in
archeological findings and a large number of anthropological figures from early civilizations. Spina bifida was first discovered by
Hippocrates, (born c. 460 bce, island of Cos, Greece—died c. 375 bce, Larissa, Thessaly). The first definitive description of spina bifida
was made by the Dutch clinician Pieter van Foreest (1522–1597) in the late 1500s. In 1614, Nicolaas Tulp (whose real name was Claes
Piereszoon) was the first who coined the term spina bifida. Ligation or amputation of the dural sac was the surgical treatment of spina
bifida for centuries. The outcome of this procedure was almost always fatal because of central spinal fluid leakage and infection or the
secondary progressive untreated hydrocephalus. In 1918, Charles H. Frazier started better surgical concepts of repair of spina bifida,
with multilayer closures using dura, fascia, muscles, and skin advocated. In 1967, a study by Sharrard, confirmed that better results
were obtained by performing the surgery of spina bifida in the perinatal period. Now, the surgery of spina bifida in the perinatal
period, is the preferred treatment.

Discovery
➔​ Spina bifida has existed for as long as human history. Evidence of children with characteristic features of spina bifida has been found in
archeological findings and a large number of anthropological figures from early civilizations.
➔​ Spina bifida was first discovered by Hippocrates, (born c. 460 bce, island of Cos, Greece—died c. 375 bce, Larissa, Thessaly).
➔​ The first definitive description of spina bifida was made by the Dutch clinician Pieter van Foreest (1522–1597) in the late 1500s.
 ➔​ In 1614, Nicolaas Tulp (whose real name was Claes Piereszoon) was the first who coined the term spina bifida.

Spina Bifida

Spina bifida is a condition that occurs when the spine and spinal cord don't form properly. It's a
type of neural tube defect. The neural tube is the structure in a developing embryo that later becomes the
baby's brain and spinal cord and the tissues that enclose them.
Typically, the neural tube forms early in pregnancy and closes by the 28th day after conception. In babies
with spina bifida, a portion of the neural tube doesn't close all the way. This affects the spinal cord and
bones of the spine.

Spina bifida is a condition that affects the spine and is present at birth. The term literally means
"split spine" in Latin.

Causative Agent

The cause of spina bifida is not known. It's thought that a combination of genetic, nutritional and environmental risk factors causes
the condition. This includes having a family history of neural tube defects and getting too little folate, also known as vitamin B-9, during
pregnancy.
Types of Spina Bifida
1.​ Spina bifida occulta
●​ is the mildest and most common form of this disorder. It usually only involves a minimal portion of the spine; it usually shows
no symptoms, and it does not require treatment. When an infant is born with spina bifida occulta, the skin covers the
deformity of the spinal bone.
●​ Spina bifida occulta literally means "a hidden spot on the spine," and for many people with this type of spina bifida, the spot
remains hidden. In some people, though, the skin overlying the bony defect will show subtle changes, such as a dimple, red or
purple coloring or a tuft of hair.

2.​ Meningocele
●​ In this least common type of spina bifida, the meninges (membrane surrounding the spinal cord) protrude through the
opening causing a lump or sac on the back. More severe than spina bifida occulta, meningocele can nevertheless be repaired
through surgery with little or no nerve damage resulting. The surgery is performed at any time during infancy. With
meningoceles, the spinal cord has developed normally and is undamaged. The child has no neurological problems.
●​ This is a rare type of spina bifida. In this type, a sac of spinal fluid bulges through an opening in the spine. No nerves are
affected and the spinal cord isn't in the fluid sac. Babies with meningocele may have some minor trouble with functioning,
including with the bladder and bowels.

3.​ Myelomeningocele
●​ is the most serious type. It also is known as open spina bifida. The spinal canal is open along several vertebrae in the lower or
middle back. Part of the spinal cord, including the spinal cord's protective covering and spinal nerves, push through this
opening at birth, forming a sac on the baby's back. Tissues and nerves usually are exposed. This makes the baby prone to
dangerous infections. This type also may cause loss of movement in the legs, and bladder and bowel dysfunction.
 ●​ Myelomeningocele is the most severe form of spina bifida, occurring nearly once for every 1,000 live births. For infants born
with a myelomeningocele, the spinal cord does not form properly and a portion of the undeveloped cord protrudes through
the back. A sac containing cerebrospinal fluid and blood vessels surrounds the protruding cord, which is usually not covered by
skin so that the nerves and tissues are exposed.

Signs and symptoms of spina bifida

In general, infants with spina bifida cystica present with the following:
➔​ Lethargy
➔​ Poor feeding
➔​ Irritability
 ➔​ Stridor
➔​ Ocular motor incoordination
➔​ Development delay

Older children may present with the following:

➔​ Cognitive or behavioral changes
➔​ Decreased strength
➔​ Increased spasticity
➔​ Changes in bowel or bladder function
➔​ Lower cranial nerve dysfunction
➔​ Back pain
➔​ Worsening spinal or lower extremity orthopedic deformities

Risk factors of Spina Bifida

Factors that increase the risk of a mother having a child with spina bifida include:
➔​ Having a child or sibling with spina bifida
➔​ Having spina bifida herself
➔​ Deficit of folate (folic acid) in the maternal diet before pregnancy
➔​ Exposure to certain medications while pregnant (valproic acid)

Spina Bifida Causes

There's no clear cause for spina bifida. But scientists believe a combination of environment, genes, and nutrition during pregnancy can play a
role. In addition to being more common among white, Hispanic, and female babies, the condition is linked to several risk factors:
Low folate/folic acid

The Development of the neural tube depends partly on adequate levels of folate, or vitamin B9. It is found naturally in some foods
and in synthetic form as folic acid, which is added to supplements and fortified foods. When levels are low in a pregnant person's body, the risk
of spina bifida increases.
Some medicines

Taking some medicines during pregnancy, including the seizure drug Depakote, may increase the risk.
Diabetes

Having diabetes that isn't well controlled during pregnancy may increase the risk for spina bifida.
Obesity

Someone who is obese when they get pregnant has an increased risk of having a baby with spina bifida.

High body temperatures

Some research suggests that exposure to high temperatures early in pregnancy -- from a fever or using a sauna or hot tub -- might
increase spina bifida risk.

Medical Management of Spina Bifida

Spina bifida ultrasound

An ultrasound is the most accurate way to diagnose spina bifida before birth. It's more likely to detect the condition if it's done in
the second trimester (at 18-22 weeks of pregnancy) than if it's done earlier.
Blood test

Though less accurate than ultrasound, a sample of the pregnant person's blood can be tested to see if it has a certain protein called
AFP that the baby makes. If the level of AFP is very high, it could mean the baby has spina bifida or another neural tube problem. But
sometimes, follow-up blood tests and ultrasounds find no issues.
Amniocentesis

If the blood test shows a high level of AFP, but the ultrasound looks normal, your doctor may recommend amniocentesis. This is
when your doctor uses a needle to take a small amount of fluid from the amniotic sac around the baby. If the AFP level in that fluid is high,
that can indicate spina bifida.
Fetal MRI

If other tests find signs of spina bifida, this imaging test can get detailed pictures of the spine and brain to look for the type of spina
bifida and possible complications.

Medications for Spina Bifida

The medications used most frequently in myelomeningocele are for treatment of neurogenic bladder dysfunction. These medications are used
in conjunction with some form of bladder emptying technique to prevent upper urinary tract complications and to facilitate social continence.
Among the drugs used are the following:
➔​ Anticholinergics (oxybutynin chloride, hyoscyamine sulfate)
➔​ Tricyclic antidepressants (imipramine hydrochloride; may act through anticholinergic effects)
➔​ Alpha-adrenergic antagonists (terazosin)