What is Spina Bifida?
Spina Bifida means “split” or “open spine.” It is one of the most common congenital (from birth) disorders. Babies are born with an opening in their back. Depending on the location of this opening, varying degrees of paralysis can occur. The higher the opening is on the spine, the more severe the paralysis tends to be. Therefore, some patients with Spina Bifida need less assistive devices (some don’t need any), while others may even need to use a wheelchair.
The affected muscles are not only those responsible for movement. In many patients, muscles that control bladder and bowel function can also be involved.
More than 85% of patients with Spina Bifida have hydrocephalus (fluid accumulation in the brain, causing an enlarged head). Since the skull bones in babies are not fully hardened yet, the head enlarges to reduce pressure. If hydrocephalus is treated before brain damage occurs, usually the intelligence level of children with Spina Bifida will not be affected.
What Causes Spina Bifida?
Spina Bifida is an anomaly that occurs during the first month of pregnancy. The baby’s spine does not fully close during development, resulting in what is commonly called “split spine disease.” The exact cause is not fully known.
In Spina Bifida, nerves and membranes protrude through the open vertebrae, creating a lump on the baby’s back.
Folic acid deficiency is primarily blamed. Therefore, women who may become pregnant and pregnant women should take preventive measures.
Spina Bifida is more common in white populations and occurs more frequently in females. A family history of Spina Bifida increases the risk, suggesting hereditary factors. The risk of having another Spina Bifida baby is about 15% if the mother has previously given birth to one. Some medications used in epilepsy, like valproic acid, are also thought to increase the risk of Spina Bifida.
How Many Types of Spina Bifida Are There?
Spina Bifida develops within the first 3 weeks of pregnancy and its occurrence rate is approximately 0.15-0.3%. Although there are three types according to severity and complications, the most serious type, myelomeningocele, is most commonly associated with the name Spina Bifida.
- Spina Bifida Occulta: The most common and mildest form. Many people are unaware they have it. It is often discovered incidentally during imaging for other reasons. A small portion of the vertebrae are open and it is also called closed Spina Bifida. Usually, it causes no problems and does not require surgery. In rare cases, spinal cord tethering may occur, leading to weakness in leg movement and urinary incontinence, called tethered cord syndrome.
- Meningocele: The rarest type of Spina Bifida. This sac-like protrusion contains membranes but no nerves, so it does not cause serious problems. Some babies may have bladder and bowel issues, and rarely hydrocephalus.
- Myelomeningocele: The most severe and common form. The sac protruding through the vertebrae contains spinal cord nerves. It may cause partial paralysis, walking difficulties, hydrocephalus, urinary and fecal incontinence, advanced kidney failure, and scoliosis.
What Are the Symptoms of Spina Bifida?
Symptoms depend on the affected area, spinal cord membranes, and nerves involved.
- In Spina Bifida Occulta, there are usually no symptoms. Sometimes visible signs such as an abnormal tuft of hair, a small dimple, or a birthmark may appear over the defect.
- In Meningocele, the membranes around the spinal cord protrude through the opening. Since the sac only contains fluid, it rarely causes hydrocephalus and infrequently bladder or bowel problems.
- In Myelomeningocele, the spinal canal remains open in the lower or middle back, often spanning multiple vertebrae. The sac contains spinal cord and nerves. Serious problems like walking difficulties, leg deformities, and bladder control issues can appear later in life. Symptoms vary depending on the lesion’s location. Partial paralysis, walking difficulties, and hydrocephalus are common.
How is Spina Bifida Diagnosed?
Spina Bifida can be diagnosed with amniocentesis, ultrasound, and blood tests. Elevated AFP (alpha-fetoprotein) levels in the triple test increase the likelihood of Spina Bifida.
The triple test is performed between the 16th and 18th weeks of pregnancy. Detailed ultrasound at this stage can also detect Spina Bifida. When diagnosed, the skull, spine, and other organs should be thoroughly examined.
How is Spina Bifida Treated?
If a Spina Bifida baby is allowed to be born, surgery is usually performed within the first 36 hours after birth to close the sac on the back. If hydrocephalus develops, a shunt surgery is done to drain excess brain fluid into the bloodstream.
Surgeries generally aim to preserve current function and prevent further complications. Complete recovery is not usually possible, but patients can live independently despite the condition.
Post-surgery, physiotherapy techniques are useful, especially to strengthen leg and lower back muscles.
Rehabilitation should include strengthening muscles and exercises to prevent joint stiffness (such as sitting, balance, and walking exercises). Measures to prevent pressure sores should be taken, and orthotic devices should be used to support weak legs. Patients may have urinary problems (incontinence or incomplete emptying). Regular catheterization is necessary in such cases. Kidney health must be monitored carefully to prevent infections or urine backflow. Constipation should also be prevented.
Since the damage usually affects the lower spinal cord, paralysis occurs in the legs and feet, typically as flaccid paralysis. However, hydrocephalus can cause hand dysfunctions, and sometimes spastic paralysis may develop.
Because these children tend to gain excessive weight, their diet should be carefully managed, avoiding soda, sugar, chocolate, and wafer-type snacks.