About Spina Bifida

Overview

Spina bifida is a birth defect that affects the spine. It occurs when the neural tube, a structure that develops into the brain and spinal cord, does not close completely during early pregnancy. This leads to incomplete closure of the bones in the spine, resulting in an opening anywhere along the spine. This opening can cause damage to the spinal cord and nerves. Spina bifida is classified as a neural tube defect because it is caused by abnormalities in the development of the neural tube. The severity of spina bifida can vary from mild to severe and may result in physical and intellectual disabilities. The size and location of the opening in the spine, as well as whether the spinal cord and nerves are affected, determine the severity of the condition.

Causes and Risk Factors

Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of the known pathophysiologic causes and risk factors of spina bifida are:

Pathophysiologic Causes:

Changes in dozens of genes, including MTHFR, which is involved in processing folate, a vitamin that plays a role in neural tube development.
Deficiency of folate, which is a well-known risk factor for spina bifida.

Non-modifiable risk factors for spina bifida cannot be changed or controlled. These include:

Increasing age: Spina bifida risk increases with maternal age.
Genetic predispositions: Positive family history of spina bifida or related neural tube defects can increase the risk.
Previous history of spina bifida or other related neural tube defects.

Modifiable risk factors for spina bifida can be influenced or changed. These include:

Poor maternal dietary habits during pregnancy: A diet lacking in essential nutrients, including folate, may increase the risk.
Obesity: Being overweight or obese during pregnancy may contribute to the risk.
Diabetes mellitus: Maternal diabetes that is poorly controlled can be a potential modifiable risk factor for spina bifida.
Exposure to high heat: Fever or exposure to high temperatures early in pregnancy may increase the risk.

It's important to note that while some risk factors can be modified through lifestyle changes, others are non-modifiable. It's always best to consult with your healthcare professional for personalized advice and guidance.

Symptoms

The signs and symptoms of spina bifida depends on the type of the condition.

Spina bifida occulta

This is the mildest form of spina bifida.
The spine deformity may be subtle, such as a dimple, discoloration, or tuft of hair at the site
There often are no symptoms initially.
Around adolescence, symptoms may include leg weakness or numbness and lack of bladder or bowel control.

Meningocele

This is the least common form of spina bifida.
The spine deformity appears as a lump or sac on the back.
Surgical repair of the meningocele is usually during infancy, before physical symptoms are noted.

Myelomeningocele

This is the most severe form of spina bifida.
The spine deformity appears as a back protrusion or sac containing a portion of the undeveloped spinal cord.
In most cases, hydrocephalus, a build-up of cerebrospinal fluid in the brain, is also present.

In general, spina bifida may cause:

Difficulty controlling the bladder and bowel
Weakness in both the legs and arms
Curvature of the spine (scoliosis)
Physical disabilities
Learning disabilities
Seizures
Paralysis

It's important to note that symptoms can vary widely from person to person, and not everyone will experience all of these symptoms. If you or someone you know is experiencing any of these symptoms, it's best to consult with a healthcare professional for an accurate diagnosis and appropriate management.

Diagnosis

To diagnose spina bifida, the following examinations, tests, and procedures are commonly performed:

Prenatal Testing:

Pregnancy screening blood test during week 16-18: Blood sample is checked for alpha-fetoprotein level. An elevated level is a sign of spina bifida in the fetus.
Pregnancy ultrasound: Abnormalities in the fetus spine may be seen.
Pregnancy amniocentesis: Amniotic fluid is checked for protein levels. Elevated protein level is a sign of spina bifida.

After Birth:

Physical exam: The healthcare provider will look for physical signs of an abnormality along the spine.
Imaging studies: Ultrasound or CT scans may be conducted to visualize the spine and identify any abnormalities.

In Older Children or Adults

Physical exam: The healthcare provider will look for physical signs of an abnormality along the spine.
Imaging studies: Ultrasound or CT scans may be conducted to visualize the spine and identify any abnormalities.
Neurological assessment: A thorough evaluation of neurological function may be conducted to assess sensory and motor abilities.
Urodynamic studies: These tests help evaluate bladder function and identify any abnormalities in urine flow

Other examinations and tests may be performed. Healthcare providers will determine which examinations, tests, and procedures are necessary based on individual symptoms and medical history. It's important to follow up with your healthcare provider if any symptoms worsen or change after the initial physical exam.

Treatment Options

The goals of treatment for spina bifida are to reduce the impact of spina bifida if possible, manage complications and optimize quality of life. Treatment options include:

Prenatal surgery: Surgery is performed on the unborn baby to repair the spinal cord.
Post-birth surgery: For myelomeningocele, surgery is performed within the first few days after birth to repair the protruding spinal cord and tissue (place them back inside the body) and insert a shunt to control hydrocephalus.
Bowel and bladder management:
- Achieve or retain urinary continence: Various therapies, such as medication to relax bladder muscles or physical therapy to strengthen pelvic floor muscles, can help achieve continence.
- Prolong the interval between catheterizations: By improving bladder function, the time between catheterizations can be extended.
- Reduce the risk of urinary tract infections (UTIs) and associated renal disorders: This can be achieved through clean intermittent catheterization (CISC) or other urinary tract management techniques. CISC involves inserting a catheter into the bladder to empty it regularly, reducing the risk of UTIs.
- Attain regular stool evacuation: Bowel management techniques, such as medication, dietary changes, and physical therapy, can help achieve regular bowel movements
Address orthopedic issues: Physical therapy and orthopedic interventions can help manage muscle imbalances, weakness, and deformities commonly associated with spina bifida.

It's important to note that therapeutic procedures may vary depending on individual needs and symptoms. It is best to consult with a healthcare professionals who specialize in the treatment of spina bifida for personalized treatment recommendations.

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