Spina bifida Early Signs and How to Treat It Effectively

Spina bifida, also known as myelomeningocele, is one of the most common and serious health conditions affecting the spine. It can significantly impact the quality of life, especially for children. This condition occurs when the spine fails to close properly during the baby’s development in the womb, which can lead to a range of health issues with varying degrees of severity.

In this Dalili Medical article, we’ll explore the causes of spina bifida, its symptoms, the different types of this condition, as well as the latest diagnostic and treatment methods available. Our goal is to help you better understand how to protect yourself or your children from this serious condition.

What is Spina Bifida?
Spina bifida is a birth defect, which means it’s a congenital condition that is present from birth. It is classified as a neural tube defect — a problem related to the development of the neural tube, which eventually forms the brain, spinal cord, and spine during early pregnancy.

When the spinal column doesn’t close properly during fetal development, it results in this condition. Spina bifida can affect three major body systems:

The central nervous system (brain and spinal cord)
The musculoskeletal system (bones and muscles)
The genitourinary system (kidneys, bladder, and reproductive organs)

The estimated occurrence of spina bifida is about 1 in every 500 to 1,000 births, making it a rare but significant condition. It has also been observed that females may be slightly more affected than males. If a family has one child with spina bifida, the chances of having another child with the same condition increase.

Is Spina Bifida Present at Birth?
Yes, spina bifida is a congenital condition, meaning it is present from birth and does not develop later in life.

Is Spina Bifida a Common Condition?
It’s not a very common condition, but it does occur in some children. That’s why it’s important to be aware of it and take preventive measures where possible.

Can People with Spina Bifida Live a Normal Life?
Many individuals with spina bifida can live normal and fulfilling lives, especially when they receive proper medical care, ongoing treatment, and emotional and social support. This support helps them manage symptoms and improve their overall quality of life.

Can Spina Bifida Be Prevented?
Most cases of spina bifida cannot be completely prevented, but the risk can be reduced by taking simple preventive steps. The most important one is taking folic acid (Vitamin B9) before and during pregnancy. Folic acid plays a vital role in fetal development and helps prevent neural tube defects, including issues with the spine and brain.

What Should Someone Do If They or Their Child Has Spina Bifida?
If you or your child has been diagnosed with spina bifida, it’s important to work closely with a specialized medical team to determine the best treatment plan. Regular medical follow-up, physical therapy, and in some cases, surgery, can all help improve the condition and manage symptoms effectively.

How Can I Know If My Child Has Spina Bifida?
Spina bifida can be detected either before or after birth using several medical tests:

During Pregnancy:
In the second or third month of pregnancy, doctors may perform a test called the AFP test (alpha-fetoprotein), which measures the level of a specific protein in the mother's blood. If results are abnormal, additional tests may be recommended, such as:

Ultrasound (sonography)
Amniocentesis

After Birth:
If the condition wasn’t diagnosed during pregnancy, a doctor may notice abnormalities in the baby’s spine after birth. This could lead to further imaging tests like:

X-ray
MRI (Magnetic Resonance Imaging)
CT scan (Computed Tomography)

1. What Causes Occult Spina Bifida?

It occurs due to incomplete closure of the neural tube during fetal development.

2. What Are the Symptoms of Occult Spina Bifida?

In many cases, symptoms are mild or not noticeable at all, and it often doesn’t cause major problems compared to other types of spina bifida.

3. How Is Occult Spina Bifida Diagnosed?

It’s typically diagnosed using imaging tests such as:

MRI (Magnetic Resonance Imaging)
CT Scan (Computed Tomography)

These help doctors get a clear view of the spine's condition.

4. What’s the Difference Between Occult Spina Bifida and Other Types?

Occult spina bifida is usually less severe and presents more subtly than open spina bifida, which tends to be more complex and impactful.

5. What Are the Risk Factors for Occult Spina Bifida?

Risk factors may include:

A family history of spina bifida
Environmental factors, such as a deficiency in folic acid during pregnancy

Why Does Spina Bifida Happen?

Spina bifida is a congenital defect in the development of the spine and spinal cord. It occurs when the neural tube doesn’t close completely during the first four weeks of pregnancy — the stage when the baby’s brain and spinal cord are forming.

Main Causes of Spina Bifida:

Folic Acid Deficiency (Vitamin B9):
This is the most common cause. Folic acid is essential for the proper development of the nervous system. If the mother doesn’t get enough folic acid before and during pregnancy, the neural tube may not close correctly.
Genetic Factors:
A family history of neural tube defects increases the risk of spina bifida.
Exposure to Harmful Substances or Certain Medications:
Some drugs, like anti-seizure medications, and exposure to toxic chemicals can affect fetal development and cause spinal issues.
Maternal Diabetes or Obesity:
Poorly controlled diabetes or excessive weight during pregnancy can increase the risk of birth defects.
Smoking and Alcohol Use:
These habits during pregnancy negatively impact fetal development and raise the risk of spina bifida.
High Fever or Overheating During Early Pregnancy:
A high body temperature in the first trimester, especially during the neural tube formation phase, may interfere with normal development.
Deficiency in Other Nutrients:
Low levels of zinc or vitamin B12 may also contribute to neural tube defects.
Radiation Exposure or Viral Infections:
Exposure to strong radiation or infections during pregnancy can affect fetal development.
Underlying Health Conditions in the Mother:
Chronic inflammation or metabolic disorders may create an unhealthy environment for fetal growth.
Psychological Stress and Anxiety:
Excessive stress during pregnancy may negatively affect the baby’s development.

Types of Spina Bifida and Their Symptoms

Spina bifida comes in several forms, ranging from mild to severe, each with different impacts on a child’s health:

1. Spina Bifida Occulta (Hidden Spina Bifida)

The mildest type, often without clear symptoms.
The spinal cord and nerves function normally.
Might be marked by a small skin sign like a mole or a tuft of hair over the affected area.
Often discovered by accident during imaging for other reasons.

2. Meningocele

A small sac containing spinal fluid pushes out through an opening in the spine, but no nerves or spinal cord come out.
Children usually have no neurological problems.
Treated with minor surgery, and recovery is typically excellent.

3. Myelomeningocele

The most severe and common type.
The spinal cord and nerves protrude outside the spine into a sac.
Causes issues with movement and nerve function, including partial or complete paralysis, bladder and bowel control problems, and difficulty walking.
Requires immediate surgery and lifelong medical support.

4. Spina Bifida Aperta (Without a Sac)

An open neural tube defect with exposed spinal tissues and no visible sac.
A serious condition that can cause significant nerve damage.

5. Covered Spina Bifida

A defect where the spinal cord or nerves are exposed but covered by a thin layer of skin or membrane.
May not be visible on the surface but can still cause nerve issues.

6. Multiple Spina Bifida

More than one area along the spine is affected by open or closed defects.
Rare and requires close medical monitoring.

7. Spina Bifida with Neurological Deficits

Types that cause paralysis, sensory loss, and difficulties with bladder and bowel control.

8. Complex Spina Bifida

Severe cases linked to other brain conditions, like hydrocephalus (fluid buildup in the brain).
Needs surgical and comprehensive medical care.

9. Neural Tube Defects (NTDs)

Spina bifida is one of several neural tube defects. Others include anencephaly, where parts of the brain are missing.

10. Closed Neural Tube Defects

Covered by skin, often with no visible signs.
Symptoms range from mild to moderate, depending on nerve involvement.

11. Open Spina Bifida

The spinal tissue is exposed, with no skin covering.
Needs urgent treatment to prevent infection and limit nerve damage.

12. Spina Bifida with Hydrocephalus

Many children with severe spina bifida develop hydrocephalus (fluid buildup in the brain).
A critical condition requiring surgery and follow-up care.

13. Severe Spina Bifida

Extensive damage to the spinal cord with major neurological issues, such as total paralysis and problems in the urinary and digestive systems.

Spina Bifida Symptoms: Everything You Need to Know, Simply Explained

Spina bifida can appear in different forms with varying symptoms depending on its type and severity. In this article, we’ll go over the most common signs and symptoms that may appear in children with spina bifida.

General Symptoms of Spina Bifida

Opening in the spinal canal: A gap or opening in the spine, usually in the lower or middle back.
Weakness or paralysis in leg muscles: The child may struggle to move their legs, or experience partial or complete paralysis.
Visible sac on the back: A skin-covered sac protruding from the spine (commonly in severe cases).
Foot deformities: Such as flat feet, clubfoot, or unusual curvature.
Uneven hips: One hip may appear higher or shaped differently than the other.
Scoliosis: A sideways curvature of the spine.
Bowel and bladder problems: Difficulty controlling urination or bowel movements.
Seizures: In rare cases, seizures may occur.

Symptoms of Spina Bifida at Birth

Visible sac on the back: A fluid-filled sac above the opening in the spine.
Small or large opening in the back: Indicating where the spinal defect is.
Protruding membranes: Membranes may bulge out through the vertebral gap, especially in severe cases.
Normal spinal cord function: In some types, like spina bifida occulta, the spinal cord may function normally.

Symptoms of Spina Bifida Occulta

No visible opening or sac on the back – it's usually hidden.
A small gap between the vertebrae seen in X-rays.
No fluid-filled sac outside the body.
Subtle skin signs such as:
- A small patch of extra hair on the lower back.
- A fatty lump or differently colored skin spot.
- A tiny dimple in the skin.

How Is Spina Bifida Diagnosed Before Birth?

Early diagnosis of spina bifida during pregnancy is very important for managing the condition and planning treatment. Here are the main tests used to detect spina bifida before birth:

1. Prenatal Screening Tests: The First Step

Pregnant women are offered special blood tests to detect the possibility of spina bifida or other birth defects. However, results aren’t always 100% accurate – a positive result doesn’t always mean the baby is affected, and a negative result doesn’t always guarantee the baby is fine.

So, it’s important to discuss the test results and risks with your doctor and prepare yourself emotionally for all outcomes.

2. Alpha-Fetoprotein (AFP) Blood Test

A simple blood test measures the level of a protein called alpha-fetoprotein in the mother's blood.

Normally, small amounts of AFP pass from the baby through the placenta to the mother. But high levels may indicate a neural tube defect like spina bifida.

Still, a high AFP result doesn't always mean spina bifida is present. Further testing is needed.

3. Confirming Results with Additional Tests

If AFP levels are high, your doctor may order a second blood test to confirm.

Sometimes, high AFP levels are caused by incorrect gestational age or other reasons.

A test called MSAFP may be done alongside AFP to check for other conditions like Down syndrome (trisomy 21).

4. Ultrasound (Sonography)

Ultrasound is the most accurate and effective method for diagnosing spina bifida before birth.

It can be done in the first or second trimester, but the second trimester gives the clearest results.

Ultrasound allows doctors to see the baby’s spine, identify any openings or sacs, and assess any related brain signs – helping them evaluate the severity.

5. Amniocentesis

If previous tests suggest spina bifida, your doctor might recommend amniocentesis.

This involves inserting a thin needle to collect a sample of amniotic fluid around the baby.

It helps confirm the diagnosis and rule out genetic disorders, although spina bifida is rarely inherited.

How Is Spina Bifida Treated in Children? A Simple Guide for Parents

Spina bifida treatment depends on the type and severity of the condition, but the main goal is always to improve the child’s quality of life and prevent complications. Let’s look at the most effective treatment methods:

1. Surgery: The First Step After Birth

Most children with spina bifida need surgery within the first days or weeks after birth.

The main goal of surgery is to close the opening in the spine and protect the spinal cord from infection or further damage.

Some children may require additional surgeries over time.

2. Physical Therapy and Ongoing Rehabilitation

After surgery, the child usually starts a physical therapy program to strengthen muscles and improve mobility.

Therapy helps the child walk better, maintain balance, and perform daily tasks more easily.

Consistency in therapy makes a big difference in the child’s development.

3. Bowel and Bladder Care

Since spina bifida affects the nerves controlling bowel and bladder function, the child may need:

Special training programs to improve bladder and bowel control.
Medications to regulate these functions.
In some cases, catheter use to empty the bladder.

Ongoing care with a urology specialist is very important.

4. Regular Medical Follow-Up

Regular checkups with a specialized medical team are crucial. This team may include:

Pediatric neurologist
Neurosurgeon
Pediatrician

These visits help monitor the child’s condition, prevent complications, and address new issues as they arise.

Some children develop conditions like hydrocephalus (fluid buildup in the brain), which requires special treatment.

5. Psychological and Social Support

Spina bifida affects not only the body but also the mind and emotions.

Psychological support is essential for both the child and the parents to help them cope with the challenges.

Communication with schools is also important to provide a supportive learning environment for the child.

Spina Bifida Treatment Options: What You Should Know

Not all cases of spina bifida need the same treatment. Some types, like spina bifida occulta, may not require any treatment. Others need immediate medical intervention. Here's a quick look at the main treatment options:

1. Fetal Surgery (Before Birth)

In some cases, doctors can perform surgery on the baby while still in the womb, before 26 weeks of pregnancy.

During the procedure, the uterus is opened, and the spinal defect is repaired before birth.

Sometimes, a less invasive technique is used with small incisions and a scope.

Research shows that babies who undergo fetal surgery often have better mobility and lower chances of needing walking aids.

This surgery also reduces the risk of hydrocephalus (fluid buildup in the brain).

Make sure to consult a specialist about whether this surgery is possible in your case and understand the potential benefits and risks, such as preterm birth or complications.

This surgery should be done at a specialized center with an experienced team of fetal surgeons, neurosurgeons, and maternal-fetal medicine experts.

2. Cesarean Delivery

Most babies with spina bifida are in a breech position (feet first).

If the baby is in a difficult position or has a large sac on the back, a C-section may be the safest delivery method to avoid injury.

3. Postnatal Surgery

Most babies with spina bifida need surgery soon after birth.

This surgery closes the spinal opening and protects the exposed spinal cord.

During the operation, the spinal cord is placed back inside the body and covered with muscle and skin.

If the baby has hydrocephalus, the neurosurgeon may place a shunt to drain excess fluid from the brain.

Managing Spina Bifida Complications in Children: Key Steps to Improve Their Lives

Children born with spina bifida (also known as myelomeningocele) often have nerve damage that cannot be reversed. Because of this, it’s essential to have a comprehensive medical team—including surgeons, doctors, and therapists—who can help manage and treat the complications that may arise over time.

Main Complications of Spina Bifida and How to Treat Them

1. Mobility and Walking Aids
Some children gradually begin physical therapy to strengthen their legs.

They may need braces or crutches to support walking.
In other cases, a walker or wheelchair may be required.
Ongoing physical therapy helps the child develop mobility skills and gain independence.
Even children who use wheelchairs can learn to use them effectively and become more self-reliant in daily life.

2. Managing Bowel and Bladder Issues
Spina bifida can affect the nerves controlling the bladder and bowels, so regular monitoring is crucial.

Medical evaluations may include imaging (ultrasound, X-rays), blood tests, and kidney function tests.
These assessments help reduce the risk of organ damage or infections.
Frequent evaluations are usually needed during the early years, then gradually spaced out as the child grows.

3. Treating Hydrocephalus (Fluid Buildup in the Brain)
Most children with spina bifida may also develop hydrocephalus.

Treatment often involves surgically placing a shunt to drain excess fluid from the brain into the abdomen. This is usually done during or shortly after spina bifida repair surgery.
A newer, less invasive technique called endoscopic third ventriculostomy (ETV) may be an option. This involves creating a small opening in the brain to allow fluid to drain.
However, not all children are candidates for this procedure, so a detailed medical evaluation is required.

4. Treating and Supporting Other Complications
Children may also need various assistive tools to improve their quality of life, such as:

Bath chairs, adapted toilet seats, and standing frames.
Bone deformities or spinal cord issues may be managed through medical or surgical treatments.
These interventions aim to enhance the child's comfort and independence in daily routines.

A Multidisciplinary Team Is Essential

Spina bifida treatment requires coordination across multiple specialties. Key members of the medical team often include:

Pediatric Neurosurgeon:
Main surgeon responsible for spina bifida repair and managing spinal cord and neurological complications.
Neurologist:
Monitors overall neurological health and treats related issues such as seizures or developmental delays.
Urologist:
Manages bladder and bowel function issues due to nerve damage.
Physiotherapist:
Helps strengthen muscles, improve mobility, and support physical development.
Pediatrician:
Provides general health care and coordinates between specialists.
Maternal-Fetal Medicine Specialist:
In cases where spina bifida is diagnosed during pregnancy, this specialist monitors fetal development and pregnancy health.