Overview

Spina bifida is a congenital neurological disorder resulting from defects in neural tube development during fetal development.¹ Spina bifida can lead to several complications from mobility issues and cognitive dysfunction to overall health that can pose a lot of challenges in leading a quality life in adulthood.¹ Depending on the severity of the condition,spina bifida can lead to a range of health problems.

What are the different types of spina bifida?

• Occulta: The mildest form, where one or more spinal bones are malformed but covered by skin. It usually has no symptoms and is often discovered by accident on an x-ray
• Closed Neural Tube Defects: Involves issues with fat, bone, or spinal cord coverings, often needing surgery in childhood. It can cause leg weakness and problems with bladder and bowel control
• Meningocele: The protective layers around the spinal cord bulge through the spine, forming a fluid-filled sac. The sac is sometimes covered by skin, and symptoms are often mild
• Myelomeningocele: The most severe type, where part of the spinal cord or nerves protrudes through an opening in the spine. It often causes leg weakness, changes in brain structure, and bladder or bowel issues, requiring surgery soon after birth²

What factors increase the chances of having a child with spina bifida?

There isn’t a single cause for spina bifida, but research indicates that both genetic and environmental factors, including diet, play a role. During pregnancy, specific factors can increase the risk of your baby developing spina bifida that includes:

• Low folate intake^3,4
• Previous baby with spina bifida
• Use of certain anti-seizure medications
• Obesity
• Insulin-dependent diabetes
• Family history of spina bifida

These factors can contribute to a higher likelihood of having a child with spina bifida. Ensuring proper nutrition and managing health conditions during pregnancy can help reduce this risk. 

How is spina bifida diagnosed?

Diagnosing Spina Bifida

Spina bifida is often diagnosed before birth (prenatal), though mild cases may not be detected until after birth (postnatal) or may go unnoticed altogether.

Prenatal diagnosis:

• MSAFP Screening: Between 16 and 18 weeks of pregnancy, a blood test checks for high alpha-fetoprotein (AFP) levels, which can indicate spina bifida or other neural tube defects. If high AFP levels are found, further tests like ultrasound or amniocentesis may be done¹
• Ultrasound: In the second trimester, high-frequency sound waves can produce images of the fetus that aid in spina bifida diagnoses⁵
• Amniocentesis: An amniotic fluid sample is examined for signs of genetic defects or neural tube abnormalities⁵

Postnatal diagnosis:

• Visible signs: Spina bifida may be noticed at birth through signs like an abnormal fatty mass, a tuft of hair, or a dimple on the spine. Severe forms, like myelomeningocele, may be detected by a bubble on the baby’s back
• Imaging tests: X-rays, ultrasound, MRI, or CT scans are used to assess the spine and detect spina bifida. These tests can also check for hydrocephalus (excess fluid in the brain)

What conditions associated with Spina Bifida affect the brain and nervous system?

Hydrocephalus

In myelomeningocele, a form of spina bifida, cerebrospinal fluid can accumulate, leading to hydrocephalus, which is the abnormal fluid buildup around the brain. This pressure can damage the brain. Hydrocephalus is typically treated by surgically implanting a shunt to drain excess fluid into the abdomen or through an endoscopic third ventriculostomy (ETV), which creates a new pathway for fluid to flow.¹ Headaches are the most prevalent symptom of shunt complications, which may resemble symptoms of spinal cord tethering or Chiari malformation. Nausea and vomiting may also occur but may not always be present.⁶

Chiari malformation

Chiari II malformation is where the brainstem and cerebellum extend into the spinal canal or neck. It is commonly detected in infants with myelomeningocele but rarely causes symptoms until adulthood. When it does, it can compress the spinal cord, leading to difficulty breathing, swallowing, and arm weakness. Chiari malformation can commonly cause hydrocephalus.⁷

Tethered spinal cord

Tethered spinal cord is caused by tissue that attaches to the spinal cord, preventing it from moving freely. The tissue attachments may develop near the site of a spinal cord injury or be present from birth at the base of the spinal cord. They can result in improper spinal cord stretching.

What are the common physical complications of Spina Bifida?

Mobility issues

Spina bifida can interfere with nerve signals, resulting in weakness of the core muscles and paralysis or decreased sensation in the legs. Usually, weakness and loss of sensation are less severe if the lesion is in the lower back. However, the effects may be more noticeable on one side of the body. Reduced mobility in children can lead to contractures as they mature. To aid with walking, individuals with spina bifida frequently require wheelchairs, walkers, crutches, or braces.⁸

Orthopaedic problems

Newborns frequently have talipes, also referred to as clubfoot. In this condition, the foot's bones, joints, and ligaments are deformed, causing the foot to turn downward and inward, which makes walking and standing difficult.³ Additionally, individuals with spina bifida may develop spinal curves such as scoliosis and could also experience hip dislocation in one or both legs.⁹

Bladder and bowel control

Most people with spina bifida experience incontinence due to disrupted signals between the brain and the bladder or bowel, leading to loss of sensation or sphincter control. Mobility challenges can further contribute to incontinence. Common issues include diarrhoea, overflow incontinence, and neurogenic bladder, which may cause frequent urination, retention, urgency, and nocturia.¹⁰

What are the cognitive and learning challenges associated with Spina Bifida?

Children with myelomeningocele often struggle with learning, including problems with paying attention, understanding, motor skills, memory, and organising. To help them become more independent and improve their well-being, it's important to research and gather information on their cognition. This will allow you to adapt and improve their learning and therapy.^11,12

How does Spina Bifida impact overall health and daily life?

Skin problems

Limited mobility can lead to weak muscles, decreased sensation, and poor circulation, individuals who have spina bifida are more vulnerable to skin conditions. Skin problems can arise from pressure, burns, or injury. Check your baby’s skin regularly for any redness. Your doctor can suggest ways to prevent skin issues, like cool baths and changing their position frequently.¹¹

Obesity

Obesity is common in individuals with spina bifida due to reduced physical activity caused by mobility issues, leading to weight gain. This risk increases with age, with over 50% of children being overweight by age six and continuing into adolescence and adulthood. Additionally, lower lean body mass and a slower metabolism contribute to higher obesity rates in this population.¹⁴

Latex allergy

Children who are frequently exposed to latex from childhood until adulthood, such as those who have long-term medical issues like spina bifida, are more likely to develop latex allergies. Children with spina bifida are particularly vulnerable due to repeated surgeries, which increases their chances of having allergic reactions to latex.^14,15

How are spina bifida complications treated and managed?

Spina bifida can't be cured, but the health problems it causes can be managed. Treatment depends on how severe it is and how it affects your child, to improve their quality of life. 

Types of treatment

Surgery

If severe spina bifida is found early in pregnancy, surgery can be done while the baby is still in the womb to protect the spinal cord. If surgery is done after birth, it usually happens within the first 48 to 72 hours to lower the risk of infection and further damage. Infants with hydrocephalus (a build-up of fluid in the brain) may require surgery to implant a shunt - a device that helps remove extra fluid from the brain.

Symptoms management

Using splints, braces, crutches, or a wheelchair can provide mobility support. Physiotherapists help improve strength and movement. Urinary continence support focuses on preventing infections and protecting the kidneys. Learning support helps children with learning difficulties and problem-solving.³

Care team

The treatment team might include specialists like neurologists, paediatricians, orthopaedic surgeons, urologists, continence nurses, occupational therapists, physiotherapists, and social workers.

Summary

Spina bifida results from inadequate closure of the neural tube, a congenital condition that causes a range of health issues. The four types are as follows: myelomeningocele, the most severe form with exposed spinal nerves causing major problems, and occulta, which is a mild form that frequently exhibits no symptoms. Risk factors include low folate intake, previous cases, certain medications, and obesity.

Diagnosis is typically through prenatal tests like MSAFP screening and ultrasound, with postnatal detection through physical exams and imaging. Complications can include hydrocephalus, Chiari malformation, and mobility issues. Management involves surgery, mobility aids, and a multidisciplinary care team to address symptoms and improve quality of life.