Spina Bifida

What is Spina Bifida?

Spina bifida is a congenital condition that occurs when the spine and spinal cord do not develop properly during early pregnancy. It is also called a neural tube defect, with the neural tube being the original structure that later forms the brain, spinal cord, and surrounding tissues.

In spina bifida, the developing spinal cord failed to separate from the overlying structures (fat and skin). Due to this, the bony spine at the affected area is prevented from closing (and forming normal ring-structure), resulting in an ‘open spine’. Spina bifida can range from mild to severe, depending on the size and location of the spinal opening and the extent to which the spinal cord and nerves are involved.

Causes of Spina Bifida

While the exact cause of spina bifida is not fully understood, it is believed to be due to a combination of genetic, environmental, and nutritional factors. Key contributors include:

• Folate Deficiency: A lack of folate, or vitamin B-9, during pregnancy increases the risk of neural tube defects. Taking folic acid supplements before and during pregnancy can significantly reduce the chances of developing spina bifida.
• Family History: A family history of neural tube defects can slightly increase the risk of having a child with spina bifida. If a parent has spina bifida or has had a child with the condition, they may have a higher likelihood of recurrence.
• Certain Medications: Some medications, particularly anti-seizure drugs like valproic acid, can interfere with the body’s ability to process folate, increasing the risk of spina bifida.
• Maternal Diabetes: Poorly controlled diabetes during pregnancy is linked to a higher risk of spina bifida.
• Maternal Obesity: Obesity in women before and during pregnancy is associated with an increased risk of neural tube defects, including spina bifida.
• Elevated Body Temperature: High body temperatures caused by fever, hot tubs, or saunas during the early stages of pregnancy can contribute to spina bifida development.

If you are planning a pregnancy and have any of these risk factors, consult a maternal-fetal medicine specialist for guidance on preventive measures, including folic acid supplementation.

Symptoms of Spina Bifida

The symptoms of spina bifida vary depending on its type and severity. The condition is categorised into three main types:

1. Spina Bifida Occulta

This is the mildest and most common form of spina bifida. In this condition, there is a small gap in one or more vertebrae (spine bone), but it does not affect the spinal cord or nerves. Often asymptomatic, it may only be detected during routine imaging, such as X-rays. The skin overlying the bony defect is intact, and may have visible signs such as:

• A tuft of hair
• A small dimple
• A birthmark on the skin above the affected area

2. Meningocele

A rarer form of spina bifida, meningocele, involves a sac containing spinal fluid protruding through an opening in the spine. The spinal cord remains unaffected, and nerves are not involved.

Symptoms may include:

• Minor bladder and bowel issues

3. Myelomeningocele

This is the most severe form of spina bifida, also known as open spina bifida. The spinal canal remains open along several vertebrae, often in the lower or middle back. A sac containing the spinal cord, nerves, and protective membranes protrudes through the opening and can be exposed to the environment.

Symptoms include:

• Weakness or paralysis in the legs
• Bladder and bowel dysfunction
• Hydrocephalus (fluid buildup in the brain), which may lead to increased pressure on brain tissues

Risk Factors for Spina Bifida

• Ethnicity: The condition is more common in Hispanic and white populations.
• Gender: Female babies are more frequently affected than males.
• Maternal Health: Conditions such as diabetes and obesity elevate the risk.

Complications Associated with Spina Bifida

Spina bifida can lead to a range of complications, particularly in more severe forms like myelomeningocele. These include:

• Mobility Issues: Weakness or paralysis in the legs due to affected spinal nerves
• Orthopaedic Problems: Conditions like scoliosis, progressive deformity of the lower limb (such as clubfoot), and hip dislocation
• Bladder and Bowel Dysfunction: Nerve control over bladder and bowel functions may be impaired
• Hydrocephalus: Fluid buildup in the brain often requires surgical intervention with a shunt. Untreated Hydrocephalus will lead to deteriorating mental functions.
• Chiari Malformation Type 2: A condition where the brainstem extends into the spinal canal, potentially causing breathing and swallowing difficulties
• Skin Problems: Reduced sensation increases the risk of wounds and infections
• Latex Allergy: A higher likelihood of allergic reactions to latex products.

When to Seek Medical Advice

If spina bifida is suspected during pregnancy or identified at birth, immediate medical attention is essential. Early diagnosis can significantly improve the management of symptoms and reduce the risk of complications.

Naturally, when a child with spina bifida grows, the tethered spinal cord tends to be stretched. This is due to the fact that the bony spine grows much more than the spinal cord. Stretching of the spinal cord will cause deterioration in many body functions (hydrocephalus, scoliosis, lower limb weakness and paralysis, urinary and bowel incontinence, and deformed lower limbs). This is called tethered cord syndrome.

The aim of care is to minimise deterioration and maximise bodily functions, to enable normal activities of daily living. This is achieved via physical training in early life, early detection of functional deterioration by specialists, treatment collaboration of many specialties, and timely surgical intervention if the spinal cord is stretched.

At Subang Jaya Medical Centre (SJMC), our specialists offer comprehensive care for children with spina bifida, ensuring they receive the necessary attention throughout their lives.

Preventive Measures

While some cases of spina bifida cannot be prevented, the risk can be significantly reduced with the right preventive measures:

• Folic Acid Supplementation: Taking 400-800 mcg of folic acid daily, starting at least one month before conception and continuing through the first trimester, can reduce the risk by up to 70%.
• Healthy Diet: Consuming folate-rich foods like dark green vegetables, beans, citrus fruits, and fortified cereals can complement supplementation.

• Medical Consultation: Discuss any medications, pre-existing health conditions, and lifestyle factors with a maternal-fetal medicine specialist before pregnancy.

  Yes, factors like high body temperature (from fevers or hot tubs), poorly controlled diabetes, and certain medications can increase the risk. Maintaining a healthy lifestyle during pregnancy is crucial.

Reference:

1. Mayo Clinic: Spina Bifida - Symptoms and Causes
2. MedlinePlus: Spina Bifida - Causes and Symptoms
3. Harvard Health Publishing: Spina Bifida - A to Z
4. Cleveland Clinic: Spina Bifida
5. National Institute of Neurological Disorders and Stroke (NINDS): Spina Bifida Fact Sheet
6. Sydney Children’s Hospitals Network: Spina Bifida Factsheet
7. Spina Bifida Association Malaysia (SIBIAM): What is Spina Bifida?