Spina bifida is a birth defect that affects the development of the spine and spinal cord. It occurs when the neural tube, which forms the brain and spinal cord, fails to close completely during the early stages of pregnancy. This can lead to physical and neurological issues that vary in severity depending on the type of spina bifida.
There are three main types of spina bifida:
Spina bifida occulta (SBO): The mildest and most common form, where there is a small gap in the spine but no visible sac or protrusion. Many people with SBO are unaware they have the condition.
Meningocele: A rare type where a sac of spinal fluid protrudes through an opening in the baby's back, but the spinal cord remains intact. Symptoms can range from mild to moderate.
Myelomeningocele: Also known as open spina bifida, this is the most severe form. The spinal canal is open, and a sac containing part of the spinal cord and nerves protrudes through the opening, leading to nerve damage and other complications.
The exact cause of spina bifida is unknown, but it is believed to result from a combination of genetic and environmental factors. Some risk factors include:
Low levels of folic acid during pregnancy
Certain medications, such as the seizure drug Depakote
Poorly controlled diabetes during pregnancy
Obesity in the pregnant person
Exposure to high temperatures early in pregnancy
Symptoms of spina bifida can vary depending on the type and location of the defect. In SBO, there may be a small tuft of hair or a birthmark at the site of the gap. Meningocele and myelomeningocele are characterized by a visible sac protruding from the baby's back.
Other associated symptoms may include:
Weak or paralyzed leg muscles
Abnormally shaped feet, uneven hips, or a curved spine (scoliosis)
Hydrocephalus (fluid buildup in the brain)
Seizures
Bowel or bladder problems
Spina bifida is often diagnosed before birth through prenatal tests such as ultrasound, blood tests, amniocentesis, and fetal MRI. In some cases, it may be diagnosed after birth if prenatal testing was not performed or did not detect the condition.
Treatment for spina bifida depends on the type and severity of the condition. The main treatment is surgery, which may be performed at different stages:
Fetal surgery: In some cases, surgery can be performed on the baby while still in the womb, usually before the 26th week of pregnancy.
Newborn surgery: Surgery can be performed shortly after birth, often within the first 24-48 hours, to close the opening and protect the spinal cord.
Later surgeries: Additional surgeries may be needed to correct problems with the feet, hips, spine, or to replace a shunt in the brain.
Other treatments and support may include:
Mobility assistance, such as special exercises, braces, crutches, walkers, or wheelchairs
Management of complications, such as bladder and bowel problems
Monitoring and treatment by various specialists, including neurologists, urologists, orthopedic specialists, physical therapists, and occupational therapists
Special education and support for learning difficulties
Taking a multivitamin with folic acid before and during pregnancy can help prevent spina bifida. The recommended daily dose is 400 micrograms for those who are pregnant or trying to conceive, and 4,000 micrograms for those who have a history of spina bifida.
With proper treatment and support, many people born with spina bifida can live well into adulthood. As they grow, their needs may change, and they may require ongoing medical care, therapy, and assistance with daily activities. However, with the right support and accommodations, individuals with spina bifida can lead fulfilling lives and achieve their goals.
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