Spina Bifida

What Is Spina Bifida?

Spina bifida is a condition that arises when the spinal column doesn’t completely close during the early stages of fetal development, leaving part of the spinal cord exposed or improperly formed. The term “spina bifida” means “split spine” and it belongs to a group of conditions known as neural tube defects (NTDs).

This can lead to a range of complications, from mild physical difficulties to more severe mobility and neurological issues, depending on the extent and location of the defect. While the effects can vary greatly, early intervention with a tailored treatment plan can help those with spina bifida lead more independent and fulfilling lives.

Types of Spina Bifida

There are three main types of spina bifida; each has different levels of severity and potential health impacts:

Spina Bifida Occulta

Spina bifida occulta is the most common and least severe form. The term "occulta" means "hidden," and it refers to a small defect in the spine that often isn’t visible from the outside. This type of spina bifida usually doesn’t involve the spinal cord or nerves and generally does not cause any symptoms or health problems. In fact, many individuals with spina bifida occulta are unaware they have the condition until it is discovered incidentally during an X-ray or other imaging studies conducted for unrelated reasons.

In rare cases, spina bifida occulta can cause complications if the spinal cord becomes tethered to the surrounding tissue, which may lead to back pain, weakness in the legs, or problems with bladder or bowel function as the individual grows.

Meningocele

Meningocele is a rarer type of spina bifida. In this form, the protective membranes around the spinal cord (meninges) push out through an opening in the vertebrae and create a fluid-filled sac on the back. Unlike myelomeningocele, the spinal cord itself remains properly developed and is not located within the sac.

Infants with meningocele typically don’t experience nerve damage, and surgical repair is usually effective. After surgery, the child may have little to no neurological issues, but careful follow-up is needed to monitor any potential complications.

Myelomeningocele

Myelomeningocele is the most severe and well-known form of spina bifida. It occurs when a portion of the spinal cord and the nerves protrude through an opening in the spine, forming a visible sac on the baby’s back. This sac, which often isn’t covered by skin, can expose the nerves and spinal tissue to the environment, resulting in severe nerve damage.

Children born with myelomeningocele typically experience varying degrees of paralysis and loss of sensation below the level of the spinal defect. This form of spina bifida often causes problems with bowel and bladder control and can be associated with hydrocephalus, a condition where fluid accumulates in the brain. Early surgical intervention is crucial to close the opening and prevent infections, but the nerve damage is usually permanent.

Other Rare Types of Spina Bifida

There are also rarer forms of this condition, such as myeloschisis, where the spinal cord is exposed without any protective covering, and lipomeningocele, which involves fatty tissue that can tether the spinal cord and lead to neurological symptoms. These conditions require specialized care and management to address their unique challenges.

How Common Is Spina Bifida?

Spina bifida affects approximately 1 in 2,000 live births in the United States, making it one of the most common neural tube defects. Each year, around 1,500 babies are born with this condition, which can range in severity from mild to life-altering.

Symptoms of Spina Bifida

The symptoms of spina bifida vary widely depending on the type of the condition.

Spina Bifida Occulta Symptoms

This is the mildest form of spina bifida and often doesn’t have noticeable symptoms. However, some individuals may show subtle signs such as:

• A small dimple, birthmark, or patch of hair over the affected area of the spine.
• In rare cases, mild neurological symptoms like back pain or leg weakness.

Meningocele Signs

In this type, symptoms depend on the size and location of the sac. Common signs may include:

• Mild physical disabilities
• Potential issues with bladder and bowel function

Myelomeningocele Symptoms:

This is the most severe form of spina bifida and can lead to significant complications, including:

• Neurological Impairments: Weakness or paralysis of the legs, reduced sensation, and mobility issues. The severity varies depending on the location of the lesion on the spine.
• Bladder and Bowel Problems: Issues such as incontinence or loss of bladder and bowel control.
• Cognitive Impairments: Challenges can range from learning difficulties to problems with executive function.
• Orthopedic Issues: Conditions like clubfoot, hip dislocation, and scoliosis are common.
• Hydrocephalus: This is a buildup of fluid in the brain that can increase pressure on brain tissue. It often requires treatment with a shunt to drain the excess fluid.

Causes of Spina Bifida

Spina bifida is a complex condition with no single known cause. Experts believe it results from a combination of genetic, nutritional, and environmental factors. For instance, having a family history of neural tube defects or not getting enough folate (vitamin B-9) during pregnancy can increase the risk. Myelomeningocele, the most severe form of spina bifida, is linked to these same genetic and nutritional influences. Women who have had a child with spina bifida face a slightly elevated risk — up to 4% — of recurrence in future pregnancies.

Spina Bifida Complications

Here’s an overview of the common complications and their management:

• Orthopedic Complications: Myelomeningocele, the most severe form of spina bifida, often results in various orthopedic issues due to muscle weakness, such as:
  1. Scoliosis (curved spine): This can be managed with bracing or surgery.
  2. Clubfoot: Treatment may involve casting, bracing, or surgery.
  3. Hip dislocation: This can be addressed with physical therapy or surgical intervention.
  4. Joint and bone conditions: Early intervention can help improve joint function.
  5. Muscle contractures: Physical therapy and orthopedic interventions can reduce muscle tightness.
• Bowel and Bladder Issues: Nerve damage often affects the bladder and bowel, leading to a lack of control. This is due to the disruption of nerves from the lower spinal cord.
• Hydrocephalus: A common complication is the buildup of fluid in the brain, known as hydrocephalus. This can require surgical intervention, typically through the placement of a shunt.
• Shunt Malfunction: Shunts used to treat hydrocephalus can sometimes malfunction or become infected. Signs include headaches, vomiting, sleepiness, irritability, swelling, or redness along the shunt, confusion, eye changes, difficulty feeding, or seizures.
• Chiari Malformation Type 2: In this condition, part of the brain stem extends into the spinal canal, which can cause symptoms like arm weakness, breathing or swallowing difficulties, and in severe cases, brainstem compression. Surgery may be needed in severe cases to relieve symptoms.
• Meningitis: Children with spina bifida are at higher risk of infections like meningitis. Prompt treatment is critical to prevent serious complications.
• Tethered Spinal Cord: Surgical scar tissue can cause the spinal cord to become tethered, limiting its movement and growth. This may lead to muscle weakness and bowel or bladder issues which require surgical intervention to release the tether.
• Sleep-Disordered Breathing: Sleep apnea and other sleep disorders are common, especially in children with myelomeningocele. Treatments such as CPAP therapy or surgery can significantly improve breathing and sleep quality.
• Skin Problems: Reduced sensation can increase the risk of skin breakdown, sores, and infections. Regular skin checks, protective measures, and using appropriately fitting braces can help prevent these issues.
• Latex Allergy: Many children with spina bifida have a latex allergy, which can cause severe reactions. It’s important to use latex-free products in their care to prevent allergic responses.
• Other Complications: As children grow, they may face additional challenges, such as urinary tract infections, gastrointestinal issues, learning disabilities, and depression. Early intervention and support can help manage these conditions.

How Is Spina Bifida Diagnosed?

Spina bifida can often be detected during pregnancy through various screening tests and imaging studies. Early diagnosis allows for better planning and management of care. Here’s an overview of how it can be diagnosed:

Diagnosing Spina Bifida During Pregnancy

Spina bifida can typically be diagnosed during pregnancy, usually between the 16th and 18th weeks. The following tests are commonly used:

• Maternal Serum Alpha-Fetoprotein (MSAFP) Test:
  1. This blood test measures the level of alpha-fetoprotein (AFP) in the mother’s blood. Elevated AFP levels can indicate a higher risk of spina bifida in the fetus. Approximately 75% to 80% of cases can be detected through this screening method.
• Ultrasound (Sonogram):
  1. An ultrasound can help visualize the fetus’s spine and detect abnormalities. This is a common method for identifying issues like myelomeningocele, the most severe form of spina bifida. The presence of a cystic mass on the spine, especially if it is not covered by skin, can be indicative of spina bifida.
• Amniocentesis:
  1. This procedure involves taking a small sample of amniotic fluid from the uterus. The fluid is analyzed for elevated levels of AFP and acetylcholinesterase (AChE), which can confirm the presence of open neural tube defects, including spina bifida.

Advanced Diagnostic Techniques

In cases where further evaluation is needed, or if the initial screenings suggest a potential issue, more detailed tests can be performed:

• High-Resolution Level II Ultrasound: This is a more detailed ultrasound that can help confirm the diagnosis, pinpoint the exact location of the spinal defect, and check for any other associated conditions such as clubfoot.
• Fetal MRI: A fetal MRI provides a detailed view of the fetus’s brain and spine to help confirm the presence of conditions like Chiari II malformation, which is often associated with spina bifida, and to check for other neurological abnormalities.
• Fetal Echocardiogram: This test assesses the fetal heart for any potential defects, providing a more comprehensive evaluation of the fetus’s overall health.
• Comprehensive Evaluation: At specialized centers, a thorough, multidisciplinary evaluation may be conducted. This includes consultations with specialists such as fetal surgeons, neurosurgeons, and maternal-fetal medicine experts to review the diagnosis, discuss treatment options, and plan for potential interventions.

Postnatal Diagnosis

If spina bifida isn’t detected during pregnancy, it can be diagnosed after birth through a physical examination and imaging studies such as X-rays, MRI, or CT scans, which help determine the severity and location of the spinal defect.

Treatment Options for Spina Bifida

Spina bifida treatment focuses on managing symptoms and improving quality of life, as the condition cannot be cured, especially in more severe forms. Depending on the severity, treatment may include surgical interventions, physical therapy, and the use of assistive devices such as braces, crutches, or wheelchairs. For some, surgery can be performed before birth (fetal surgery) or shortly after birth to repair the spinal defect to potentially reduce complications.

Ongoing care is essential for children with spina bifida. This may involve multiple surgeries over time, as well as training to develop mobility skills and manage bowel and bladder functions. Physical therapy and medications can help prevent complications and support motor skills development. Additionally, children with spina bifida who experience hydrocephalus may need assistance with learning difficulties, such as challenges with attention, language, and organization. Through a comprehensive, multidisciplinary approach, children with spina bifida can achieve greater independence and quality of life.

Spina Bifida Orthotics

For many spina bifida patients, braces are an essential tool for enhancing mobility and improving their quality of life. These orthotic devices provide support and enable safer and more effective movement. Below, we’ll discuss the various types of braces for spina bifida, their functions, and the benefits they offer.

Supra-Malleolar Orthosis (SMO)

The Supra-Malleolar Orthosis is designed to support the foot and ankle, extending just above the ankle bones, known as the malleoli. This brace provides stability to the lower leg and helps control the alignment of the foot. It's often used for children with milder muscle weakness or balance issues, helping them walk more steadily. The SMO is a shorter, less restrictive version of Ankle-Foot Orthoses, so it’s a suitable option for patients who need minimal support.

Ankle-Foot Orthosis (AFO)

The Ankle-Foot Orthosis extends from the foot up to the mid-calf to provide support to the ankle and lower leg. Its primary purpose is to control the ankle's range of motion and prevent foot drop — a condition where the front part of the foot drags due to weak or paralyzed muscles. AFOs are versatile and can be customized to address specific needs, such as aiding in balance, providing support for weak muscles, and preventing deformities. They are often prescribed for patients who need moderate support to walk more safely and effectively.

Knee-Ankle-Foot Orthosis (KAFO)

The Knee-Ankle-Foot Orthosis is more comprehensive as it extends up past the knee to support the entire leg. It’s used for patients with more significant mobility impairments, where weakness or paralysis affects the knee as well as the ankle and foot. The KAFO helps stabilize the knee joint and prevents it from buckling, which can occur when the muscles are too weak to support the body weight. This brace is beneficial for those who need additional support to stand and walk, offering a greater level of stability and alignment for the entire lower limb.

Reciprocating Gait Orthosis (RGO)

The Reciprocating Gait Orthosis is the most complex of the four types, involving full-leg braces and a rigid pelvic band connected by cables. This system allows for a more natural walking motion, even for patients with severe lower-body paralysis. When the wearer shifts their weight and flexes one hip, the opposite hip and leg move forward, enabling a reciprocal, or alternating, gait pattern. RGOs are typically used for patients with severe mobility challenges as they provide an innovative solution for improving movement and independence.

Preventing Spina Bifida Before and During Pregnancy

Taking certain precautions before and during pregnancy can significantly reduce the risk:

• Daily Folic Acid Intake: Folic acid, a crucial B vitamin, is essential for the healthy development of the fetal neural tube. It’s recommended that women of childbearing age take 400 micrograms (0.4 mg) of folic acid daily, starting at least one month before conception and continuing through the early stages of pregnancy. This can help lower the risk of spina bifida by up to 75%. Folic acid can be found in prenatal vitamins and foods like leafy greens, beans, and fortified grains.
• Check All Medications and Supplements: Before conceiving and during pregnancy, it’s important to review all medications and supplements with your healthcare provider. Some drugs and herbal supplements might pose risks during pregnancy, so it’s best to make sure everything you’re taking is safe.
• Manage Fevers Properly: High body temperature during early pregnancy has been linked to an increased risk of neural tube defects. Always consult your healthcare provider for guidance.

• Avoid Overheating: Pregnant women should avoid activities that raise core body temperature excessively, such as using hot tubs or saunas. Overheating can increase the risk.
• Control Chronic Conditions: If you have health conditions like diabetes or obesity, it’s important to manage them effectively before and during pregnancy. Proper control of blood sugar levels and maintaining a healthy weight can help reduce the risk of complications.

The Outlook for Individuals with Spina Bifida

Some individuals may experience no noticeable effects, while others might face challenges in mobility and cognitive development. Each case is unique and influenced by the specific medical circumstances at birth. Fortunately, support and resources are available for all children affected by spina bifida, and with the right care, many can enjoy active, fulfilling lives.