Spina Bifida

Overview

Spina bifida is a birth defect where the spine and spinal cord don't form properly. It is a type of neural tube defect that can range from mild to severe. In babies with spina bifida, a portion of the neural tube doesn't close or develop properly, causing problems in the spinal cord and in the bones of the spine. Spina bifida can occur in different types: spina bifida occulta, myelomeningocele, or the very rare type meningocele.

Understanding the disease

Risk Factors

The risk factors for developing spina bifida include:

1. Family history of neural tube defects
2. Folate (vitamin B-9) deficiency
3. Pregnancy with a mother who has diabetes and doesn't have well-controlled blood sugar
4. Pre-pregnancy obesity
5. Increased body temperature (hyperthermia) in the early weeks of pregnancy These risk factors can increase the likelihood of having a baby with spina bifida. However, it's important to note that not every person with these risk factors will have a baby with spina bifida.

Development

Spina bifida develops due to a failure in the proper formation of the neural tube during early fetal development. The neural tube is the structure that eventually becomes the baby's brain, spinal cord, and surrounding tissues. In spina bifida, a portion of the neural tube does not close or develop correctly, resulting in defects in the spine and spinal cord. There are different types of spina bifida, which vary in severity and location of the defect. The three main types are:

1. Spina bifida occulta: This is the mildest and most common type, characterized by a small separation or gap in one or more vertebrae of the spine. The condition is often undetected until discovered during an imaging test for unrelated reasons.
2. Myelomeningocele: Also known as open spina bifida, it is the most severe type. The spinal canal remains open along several vertebrae in the lower or middle back, allowing the membranes and spinal nerves to protrude through the opening at birth. This forms a sac containing tissues and nerves, which can lead to life-threatening infections, paralysis, and bladder and bowel dysfunction.
3. Meningocele: This rare type of spina bifida is characterized by a sac-like protrusion that develops from the spinal cord, usually on the back. It can cause issues with bladder and bowel function but is generally less severe than myelomeningocele. The severity and symptoms of spina bifida can vary depending on the type, size, location, and any associated complications. Early treatment, including surgery, may be necessary for some types, but it doesn't always completely resolve the issue. It is essential to manage the condition throughout life with the help of a specialized healthcare team.

Assessment and Diagnosis

Triage

You should see a doctor if spina bifida is suspected, especially if there are signs and symptoms present in the child. Typically, myelomeningocele is diagnosed before or right after birth, when medical care is available. Children diagnosed with this condition should be followed by a specialized team of health care providers throughout their lives. Families should be educated on the different complications to watch for.

Management and Treatment

Complications

Potential complications of spina bifida include walking and mobility problems, meningocele, myelomeningocele, tethered spinal cord, infection in the tissues surrounding the brain (meningitis), and sleep-disordered breathing, such as sleep apnea. The severity of these complications depends on factors like the size and location of the neural tube defect, whether skin covers the affected area, and which spinal nerves are affected.

Prevention

Spina bifida can be prevented to some extent by consuming sufficient folic acid before and during pregnancy. Taking a supplement of 400 micrograms of folic acid daily, starting at least one month before conception and continuing through the first trimester, greatly reduces the risk of spina bifida and other neural tube defects. It's recommended that all women of childbearing age take this supplement as a precaution, as many may not realize they're pregnant until the early weeks when the risk of neural tube defects is highest. Additionally, some foods like enriched bread, pasta, rice, and certain breakfast cereals are fortified with 400 mcg of folic acid per serving.

Treatment

Treatment for spina bifida depends on the type, severity, and specific complications associated with the condition. Here are some common treatments for different aspects of spina bifida:

1. Meningitis: Treatment for meningitis, an infection in the tissues surrounding the brain, may include antibiotics and hospitalization to manage the infection and prevent further complications.
2. Tethered spinal cord: Surgery may be necessary to release the spinal cord from the scar tissue and allow for normal growth and function.
3. Sleep-disordered breathing: Treatment for sleep-disordered breathing, such as sleep apnea, may involve the use of continuous positive airway pressure (CPAP) machines or other therapies to improve breathing during sleep.
4. Bladder and bowel function: Treatment for bladder and bowel dysfunction can include medications, catheterization, and other interventions to manage incontinence and ensure proper function.
5. Orthopedic issues: Bracing, physical therapy, and surgical interventions may be necessary to address orthopedic issues related to spina bifida, such as scoliosis or joint deformities.
6. Neurological symptoms: Management of neurological symptoms may involve medications, physical therapy, and assistive devices to help with mobility and function.
7. Prevention of future complications: Regular follow-ups with healthcare providers and proactive management of symptoms can help prevent or minimize future complications associated with spina bifida. It's important to note that early diagnosis and intervention can significantly improve outcomes for individuals with spina bifida. A specialized team of healthcare providers, including pediatricians, neurosurgeons, physical therapists, and other specialists, can provide comprehensive care and support throughout the individual's life.

Preparing for medical consultation

To prepare for an appointment for suspected spina bifida during pregnancy, you should:

1. Be aware of any pre-appointment instructions.
2. Make a list of all medications, vitamins, herbs, and supplements taken during pregnancy, and dosages.
3. Bring a family member or friend along for support.
4. Prepare a list of questions to ask your doctor, including:
   • Is spina bifida present, and how severe is it?
   • Is there evidence of accumulation of fluid on the brain (hydrocephalus)?
   • Can my baby be treated during pregnancy?
   • What will be done for my baby immediately after birth?
   • Will the treatment cure my child?
   • Will there be any lasting effects?
   • Who can I contact to find out about community resources that may be able to help my child?
   • What is the likelihood of this happening again in future pregnancies?
   • How can I keep this from happening again in the future?
   • Are there any brochures or printed materials that I can have? What websites do you recommend? Remember to ask any additional questions that come up during the appointment and consult with a multispecialty team of physicians, surgeons, and physical therapists at a center that specializes in spina bifida treatment.