Spina Bifida: Types, Causes, Symptoms, Risk Factors, Diagnosis

Spina bifida is a congenital condition brought on by improper spinal cord and spine development. Such a defect results from the neural tube. The neural tube, an embryonic structure, is the site of ultimate development of the baby's brain, spinal cord, and the tissues that surround it.

The neural tube typically begins to develop in the first few weeks of pregnancy and shuts on day 28 following conception. Spina bifida affects babies by impairing the closure or development of a section of the neural tube, which results in issues with the spinal cord and the spine's bones.

The severity of spina bifida can range from mild to severe depending on the kind, size, location, and complications of the abnormality. Surgery may be required for early spina bifida treatment, however, it is not always necessary.

Types Of Spina Bifida

Spina bifida can develop in a variety of forms, including the extremely rare meningocele type, myelomeningocele, and spina bifida occulta.

• Spina bifida Occulta
  • Occulta is Latin for concealed. It's the most prevalent and moderate variety. One or more of the spine's vertebrae develop a minor separation or gap as a result of spina bifida occulta. Many people who have spina bifida occulta are totally unaware of their illness unless an imaging test done for another reason discovers it.
• Myelomeningocele
  • The most serious type is myelomeningocele, sometimes known as open spina bifida. Numerous vertebrae in the lower or middle back have an open spinal canal. The membranes and spinal nerves of the newborn push through this opening to form a sac on the baby's back, which frequently exposes tissues and nerves. This raises the infant's chance of developing potentially fatal infections, and it may also cause paralysis and abnormalities of the bladder and bowel.
• Meningocele
  • This unusual type of spina bifida manifests as a spinal fluid bag that protrudes through the opening of the spine. This form doesn't affect any nerves and doesn't contain the spinal cord. Meningocele in babies can cause minor functional issues, such as those affecting the bladder and bowels.

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Cause Of Spina Bifida

There is no known reason why spina bifida develops. The primary cause is believed to be a result of both genetic and environmental factors.

Symptoms Of Spina Bifida

Spina bifida signs and symptoms differ by type, severity, and also between people.

• Spina bifida occulta. Because the spinal nerves aren't affected, there are typically no symptoms or signs. However, there are occasionally visible symptoms on the newborn's skin above the spinal issue, such as a hair tuft, a small dimple, or a birthmark. These skin lesions may occasionally be indicators of a newborn's spinal cord problem that an MRI or spinal ultrasound can identify.
• Meningocele. Bowel and bladder issues could result from this kind.
• Myelomeningocele. With this severe form of spina bifida:
• Several vertebrae in the lower or middle back still have the spinal canal open.
• At birth, the spinal cord or nerves as well as the membranes protrude, forming a sac.
• Although skin may occasionally cover the sac, tissues and nerves are usually visible.

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Risk Factors Of Spina Bifida

Females are affected by spina bifida more frequently than males, and it is more prevalent in white and Hispanic populations. Despite the fact that there is no known cause for spina bifida, doctors and researchers have identified some risk factors:

• Deficiency in Folate. The development of a healthy baby depends on folate, the natural form of vitamin B-9. Folic acid is the name of the synthetic form that is present in supplements and foods that have been fortified. Spina bifida and other neural tube defects are made more likely by a folate deficiency.
• Neural tube defects run in the family. A couple's likelihood of having another child with the same defect increases slightly after having one child with the defect.
• If the condition has previously affected two of the child's siblings, the risk rises. Additionally, women who have a neural tube defect from birth have a higher likelihood of giving birth to a child who has spina bifida than women without a defect. The majority of spina bifida sufferers are, however, born to parents who have no known relatives who also have the disorder.
• Certain drugs. When taken during pregnancy, anti-seizure drugs like valproic acid, for instance, appear to result in neural tube defects. This could be the result of them preventing the body from using folic acid and folate.
• Diabetes. Having a baby with spina bifida is more likely in diabetic women whose blood sugar is not under tight control.
• Obesity. Obesity before becoming pregnant raises the possibility of having a baby with a birth defect of the neural tube, such as spina bifida.
• Elevated body temperature. According to some research, hyperthermia, or elevated body temperature, during the first few weeks of pregnancy may increase the risk of spina bifida. A slight increase in the risk of spina bifida has been linked to increases in core body temperature brought on by fever or by using a sauna or hot tub.

Consult your doctor to see if you need a higher dose or a prescription of folic acid if you have known risk factors for spina bifida, even before you become pregnant.

Tell your doctor if you take any medications. Some medications can be changed to reduce the chance of spina bifida if you prepare in advance.

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Diagnosis Of Spina Bifida

• If you are expecting, prenatal screening tests to check for spina bifida and other birth issues will be offered. The exams aren't reliable. Babies born to women with positive blood tests occasionally do not have spina bifida. There is a slight possibility that spina bifida is present even if the results are negative. Discuss the dangers of prenatal testing with your doctor, as well as how you might manage the results.
• Blood test. Ultrasonography is frequently used to make the diagnosis of spina bifida, however, maternal blood tests can check for the condition.
• Alpha-fetoprotein in the maternal serum (MSAFP) test. Alpha-fetoprotein (AFP), a protein made by the developing baby, is examined in a sample of the mother's blood for the MSAFP test.
• Small amounts of AFP frequently pass through the placenta and end up in the mother's blood. High levels of AFP don't always occur in spina bifida, but unusually high levels do signal that the infant has a neural tube defect, such as spina bifida.
• Confirm elevated AFP levels with a test. Your doctor could suggest a follow-up blood test for confirmation because varying levels of AFP can also be brought on by other causes, such as an incorrect estimation of the foetal age or the presence of numerous babies. You'll require more evaluation, including an ultrasound exam, if the readings are still high.
• Additional testing. Together with another two or three blood tests, your doctor might order the MSAFP test. While these tests are frequently used with the MSAFP test, their primary goal is to screen for other diseases, including as trisomy 21 (Down syndrome), rather than neural tube abnormalities.
• Ultrasound. The most reliable way to identify spina bifida in a foetus before birth is through foetal ultrasonography. Both the first and second trimesters 11 to 14 weeks and 18 to 22 weeks, respectively can be used for ultrasound procedures. The second-trimester ultrasound scan can be used to properly identify spina bifida. To find and rule out congenital defects like spina bifida, this examination is therefore essential.
• Spina bifida symptoms, such as an open spine or certain abnormalities in your baby's brain that suggest spina bifida, can also be found with an advanced ultrasound. Ultrasound is useful for determining severity when used properly.
• Amniocentesis. Your doctor might suggest amniocentesis if the pregnancy ultrasound confirms the spina bifida diagnosis. Your doctor performs an amniocentesis during which a sample of fluid is taken from the amniotic sac that surrounds the unborn child.

Although spina bifida is hardly ever linked to hereditary illnesses, this investigation may be crucial to rule them out.

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Treatment Of Spina Bifida

Talk to your doctor about the potential hazards of amniocentesis, which could include a small chance of pregnancy loss.

More severe forms of spina bifida cannot be healed since it includes nerve damage. Spina bifida patients who have more severe mobility issues and those who need help controlling their bowel and bladder functions must receive instruction. To allow the movement of urine, certain people may need to be catheterized. As they get older, these kids will also need several surgeries, and they'll need wheelchairs, crutches, and braces all their lives.

Spina bifida can have a variety of repercussions, some of which can be managed and prevented with surgery, physiotherapy, and medicine. Other difficulties may arise over a patient's lifetime. Learning difficulties can occasionally occur in spina bifida patients, particularly those who have hydrocephalus.

Common difficulties associated with these learning impairments include:

• Being attentive.
• The ability to communicate or comprehend.
• Organising.
• Sequencing.

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Complications Of Spina Bifida

Spina bifida may result in minimal symptoms or minor physical issues. However, severe spina bifida can result in more serious physical conditions. The following factors influence severity:

• Defect in the neural tube's size and location.
• Whether the affected area has skin or not
• which spinal nerves exit the affected region of the spinal cord

Although the number of potential complications on this list may seem overwhelming, not every child with spina bifida experiences them. Many of these complications are treatable.

• Mobility issues that affect walking. Underneath the site of the spina bifida defect, the nerves that regulate the leg muscles don't function properly. Leg muscle weakness as well as occasional paralysis can result from this. The location, size, and postnatal care received by the baby all have a role in whether or not the infant is able to walk.
• Orthopaedic problems. Because the muscles in the back and legs are weak in myelomeningocele patients, they may experience a range of issues with their legs and spine. Depending on where the flaw is, there are several types of issues. The following orthopaedic conditions are examples of potential issues:
  • Spine that is curved (scoliosis)
  • Excessive expansion
  • The hip is dislocated.
  • Disorders of the bones and joints
  • Contracts of the muscles
• Bowel and bladder issues. In children with myelomeningocele, the nerves that feed the bladder and bowels frequently malfunction. This is so because the nerves that supply the intestine and bladder exit the spinal cord at its base.
• Fluid buildup in the brain (hydrocephalus). Myelomeningocele babies frequently develop hydrocephalus or fluid buildup in the brain.
• Shunt error. Shunts inserted into the brain to treat hydrocephalus may stop working or contract an infection. There could be several warning indicators. Some of the warning symptoms of a malfunctioning shunt include:
  • Headaches
  • Vomiting
  • Sleepiness
  • Irritability
  • Bruising or redness along the shunt
  • Confusion
  • Alterations in the eyes (stuck downward stare)
  • Having difficulty eating
  • Seizures
• Type II Chiari malformation. Children with the myelomeningocele kind of spina bifida frequently experience a problem with their brains called a Chiari malformation type 2. Above the spinal cord, the brainstem is the lowest portion of the brain. The brainstem is enlarged and situated lower than typical in Chiari malformation type 2. Issues with breathing and swallowing may result from this. Rarely, this region of the brain experiences compression, necessitating surgery to release the pressure.
• An infection of the meninges that cover the brain is called meningitis. Myelomeningocele in infants can cause meningitis, an infection of the membranes lining the brain. This illness, which could be fatal, may harm the brain.
• The spinal column tethered. When the spinal nerves attach to the surgical scar where the defect was repaired, the spinal cord becomes tethered. As a youngster gets older, the spinal cord has less capacity to expand. Loss of muscular function in the legs, colon, or bladder can result from this gradual tethering. The extent of disability may be reduced by surgery.
• Breathlessness while sleeping. Spina bifida, especially myelomeningocele, can cause sleep apnea and other sleep abnormalities in both children and adults. The detection of sleep-disordered breathing, such as sleep apnea, which need treatment to enhance health and quality of life, is facilitated by assessment for a sleep disorder in patients with myelomeningocele.
• Skin conditions. Children with spina bifida may have injuries to their feet, legs, buttocks, or back. They lack the ability to feel when they develop blisters or sores. Blisters and sores have the potential to develop into difficult-to-treat foot infections or severe wounds. Children who have myelomeningocele are more likely to experience cast-related wound complications.
• Latex sensitivity. A latex allergy, an allergic reaction to natural rubber or latex products, is more common in children with spina bifida. Rash, sneezing, itching, watery eyes, and a runny nose are possible symptoms of latex allergy. Additionally, it can result in anaphylaxis, a potentially fatal disease where breathing becomes challenging due to swelling of the face and airways. Therefore, it is essential to wear latex-free gloves and tools when giving birth and when taking care of a child who has spina bifida.
• Other issues. As children with spina bifida get older, other issues could develop, including urinary tract infections, GI issues, and depression. Learning deficits in children with myelomeningocele can include difficulties paying attention and mastering reading and maths.

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Prevention Of Spina Bifida

Spina bifida and other neural tube defects are considerably decreased when folic acid is taken as a supplement beginning at least one month before conception and continuing through the first trimester of pregnancy.

Supplementation with folic acid

Spina bifida can be avoided by ensuring that you have an adequate folic acid level in your body by the first few weeks of pregnancy. Experts advise that all women of reproductive age take 400 micrograms (mcg) of folic acid daily as a supplement because many women don't find out they're pregnant until this point.

Several foods, including:

• Are 400 mcg folic acid enriched. 
• Rich bread Rice Pasta
• Certain cereals for breakfast
• Folate, the naturally occurring type of folic acid found in foods, may be labelled as folic acid on food packaging.

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