Spina Bifida

Spina bifida is a birth defect where the spine and spinal cord don't develop correctly. It's a problem with the neural tube, the structure that becomes the brain and spinal cord. This tube usually forms and closes completely by about four weeks after a baby is conceived. In babies with spina bifida, a part of this tube doesn't close properly. This can affect the spinal cord and the bones of the spine.

The severity of spina bifida varies. It can be mild or cause significant disabilities. Exactly how the baby is affected depends on where the opening is in the spine, how large it is, and whether the spinal cord and nerves are affected. Surgery is often needed to repair the defect, but it may not fully restore lost function.

There are different types of spina bifida:

• Spina bifida occulta: This is the mildest and most common type. It involves a small gap or separation in one or more of the spine's bones (vertebrae). Often, people with this type don't even know they have it, as it's usually discovered during a different medical test, like an X-ray.

• Myelomeningocele (open spina bifida): This is the most serious type. A large opening develops in the spine, often in the lower or middle back. Part of the spinal cord, along with its protective coverings and nerves, may push through this opening, forming a visible sac on the baby's back. This open sac can be exposed and vulnerable to infections. It can lead to problems with leg movement, bladder control, and bowel function.

• Meningocele: This is a rare type. A sac of spinal fluid bulges through an opening in the spine. Crucially, the spinal cord itself isn't inside the sac, and nerves aren't affected. Babies with meningocele may have some minor difficulties, like with bladder and bowel function.

Early diagnosis and treatment are essential for spina bifida. The specific care and treatment will depend on the type and severity of the condition.

Spina bifida is a birth defect where the spine doesn't close completely during pregnancy. There are different types, and the symptoms vary.

Spina bifida occulta: This is the mildest type. Often, there are no noticeable symptoms because the spinal nerves aren't affected. Sometimes, a small, harmless mark might be visible on the baby's back, like a tuft of hair, a small indentation (dimple), or a birthmark. These skin signs, while often harmless, can sometimes be a clue to an underlying spinal problem. If there's concern, doctors can use imaging tests like an MRI or ultrasound to check the spinal cord. In most cases, people with spina bifida occulta have no further health issues.

Meningocele: This type of spina bifida involves a sac-like bulge containing the membranes that cover the spinal cord. This bulge may occur anywhere along the spine. In some cases, the bulge may affect bladder and bowel control.

Myelomeningocele: This is the most serious type. It's characterized by an open area in the spine, where the spinal cord and its protective coverings (membranes) protrude outside the body. This often happens in the lower or middle back. The exposed tissues can lead to problems with bladder and bowel function, weakness or lack of movement in the legs, and even hydrocephalus (excess fluid buildup in the brain). Myelomeningocele is usually diagnosed at or soon after birth, allowing for early intervention.

Children with spina bifida, especially myelomeningocele, require ongoing care from a team of specialists throughout their lives. This care may address possible complications and help them reach their full potential. Families are also supported to understand and manage any potential long-term effects. In contrast, children with spina bifida occulta usually only need routine pediatric care, as they often have no noticeable symptoms or complications.

Myelomeningocele is usually found soon after birth, when doctors can provide care. Babies with myelomeningocele need ongoing care from a team of specialists throughout their lives. This team can help families understand the possible problems that may develop later.

Spina bifida occulta is a different type of spina bifida. In most cases, children with spina bifida occulta don't have any noticeable problems or symptoms. Routine checkups with a pediatrician are usually enough for these children.

Spina bifida's cause isn't fully understood. Scientists believe it's a mix of things, not just one single reason. These include factors related to genes, nutrition, and the environment. A family history of birth defects in the spine or brain (neural tube defects) can play a role. Getting enough folate (vitamin B-9) during pregnancy is also very important. Not getting enough folate can increase the risk of spina bifida.

Spina bifida is a birth defect where the spine doesn't close completely. While the exact cause isn't understood, certain factors increase the risk. People of Hispanic and white descent appear to have a slightly higher chance of having a child with spina bifida, and girls are more often affected than boys.

Several risk factors have been identified:

• Low Folate Levels: Folate, a B vitamin, is crucial for a baby's development, especially during pregnancy. Low folate levels, or folate deficiency, are linked to spina bifida and other problems affecting the neural tube – the structure that forms the brain and spinal cord. The synthetic form of folate, called folic acid, is found in supplements and fortified foods. Getting enough folate, either through diet or supplements, is important.

• Family History: If a person has a child with a neural tube defect, there's a slightly increased chance of having another child with a similar condition. The risk goes up even more if two previous children have had such defects. Having a neural tube defect yourself also increases the risk of having a child with spina bifida. However, most babies with spina bifida are born to parents with no known family history of the problem.

• Certain Medications: Taking certain medicines, like valproic acid (used to treat seizures), during pregnancy can increase the risk of spina bifida. These medicines sometimes interfere with the body's ability to use folate. Discussing medications with your doctor is important, especially if you're planning a pregnancy. They can help you understand potential risks and adjust medication if needed.

• Diabetes: Poorly controlled diabetes before pregnancy can increase the risk of spina bifida. It's vital to manage diabetes effectively if you're trying to have a baby.

• Obesity: Being obese during pregnancy also seems to be linked to a higher risk of spina bifida.

• High Body Temperature: Some research suggests that high body temperature in the early weeks of pregnancy might increase the risk. This could be due to a fever or using a sauna or hot tub.

What to Do:

If you have any of these risk factors, it's crucial to talk to your healthcare provider. They can discuss ways to manage these risks, often recommending a higher dose of folic acid supplementation, even before pregnancy. Be sure to tell your doctor about all medications you are taking, as some may need adjustments to minimize potential risks. Open communication with your healthcare professional is key to making informed decisions about your health and the health of your future children.

Spina bifida can cause a range of symptoms, from mild to more serious. The severity of the symptoms depends on several factors:

• The size and location of the opening in the spine: A larger opening and a location closer to the brain often lead to more significant problems.
• Whether the opening is covered by skin: An uncovered opening (myelomeningocele) often requires more medical attention.
• Which spinal nerves are affected: Different nerves control different parts of the body, so the impact of the opening will depend on which nerves are involved.

Children with spina bifida can experience various complications, but not every child will have every problem. Many complications can be managed effectively.

Movement and Mobility Issues: The nerves that control leg muscles below the affected area of the spinal cord might not work correctly. This can lead to weak leg muscles or paralysis. The location and size of the spinal opening, as well as the care received before and after birth, all play a role in a child's ability to walk.

Orthopedic Problems: Children with spina bifida, particularly those with myelomeningocele, might experience problems with their legs and spine due to weak muscles. These can include:

• Scoliosis: A curved spine.
• Clubfoot: An inward-turning foot.
• Hip dislocation.
• Bone and joint problems.
• Muscle contractures: Shortened, tight muscles.

Bowel and Bladder Control: The nerves that control the bladder and bowels often don't work properly in children with spina bifida. This means they may have trouble controlling their bowel and bladder movements. This is because these nerves originate from the lower part of the spinal cord.

Hydrocephalus: A buildup of fluid in the brain, a common problem in babies with myelomeningocele, is called hydrocephalus. This often requires a shunt, a small tube, to drain the excess fluid.

Shunt Malfunction: The shunt that drains excess fluid from the brain can sometimes stop working or get infected. Signs of a malfunctioning shunt include:

• Headaches
• Vomiting
• Sleepiness
• Irritability
• Swelling or redness around the shunt
• Confusion
• Changes in eye movement (e.g., fixed downward gaze)
• Feeding difficulties
• Seizures

Meningitis: Some babies with spina bifida may develop an infection in the tissues around the brain, known as meningitis. This can be serious and potentially cause brain damage.

Tethered Spinal Cord: In some cases, the spinal cord may be attached to surrounding tissue, preventing it from growing properly. This can lead to muscle weakness, bowel/bladder problems, and other issues. Surgery can help.

Sleep Disorders: Children and adults with spina bifida, especially those with myelomeningocele, can experience sleep apnea (brief pauses in breathing during sleep). Testing and treatment can improve sleep and overall health.

Skin Problems: Reduced feeling in some parts of the body can lead to wounds or sores on the feet, legs, buttocks, or back. These can get infected, especially with casts.

Latex Allergy: Children with spina bifida may be more prone to allergic reactions to latex (natural rubber). Symptoms can range from a rash to a severe reaction called anaphylaxis. Using latex-free products is crucial.

It's important to note that not all children with spina bifida experience all of these complications, and many of these problems can be managed with appropriate medical care.

Taking folic acid supplements can significantly lower the risk of your baby having spina bifida or other birth defects related to the neural tube. These defects can cause serious problems for the baby.

To be most effective, start taking folic acid supplements at least one month before you get pregnant. Keep taking them throughout the first three months of pregnancy. Getting enough folic acid during the early weeks of pregnancy is crucial, but many people don't realize they're pregnant until that time. That's why experts recommend that everyone of childbearing age take a daily supplement of 400 micrograms (mcg) of folic acid.

You can also get folic acid from food. Many foods have folic acid added to them, called "fortification." This includes:

• Enriched foods: Bread, pasta, rice, and some breakfast cereals often have added folic acid.
• Natural sources: Look for foods naturally containing folate, the natural form of folic acid. These include: beans, peas, citrus fruits and juices, egg yolks, cow's milk, avocados, and dark green leafy vegetables like broccoli and spinach.

People planning to become pregnant or who could get pregnant need even more folic acid – between 400 and 800 mcg daily. Your body doesn't absorb folate (the natural form) as easily as folic acid, so supplements are often necessary. These supplements might also help lower the risk of other birth defects like cleft lip, cleft palate, and some heart conditions.

A healthy diet rich in folate-containing foods is also important. Eating a variety of fruits, vegetables, and other healthy foods is a good idea for overall health and to get the right nutrients during pregnancy.

If you have spina bifida or have had a child with spina bifida in the past, you might need a higher dose of folic acid before you get pregnant. If you take anti-seizure medications or have diabetes, you may also benefit from a higher dose. Always talk to your doctor or other healthcare provider before changing your folic acid intake, especially if you're taking other medications or have any health conditions. They can advise you on the right amount for you.

Prenatal screenings can help identify potential problems like spina bifida before a baby is born. However, these tests aren't perfect. A positive blood test doesn't always mean a baby has spina bifida, and a negative result doesn't guarantee its absence. It's crucial to talk to your doctor about these tests, their limitations, and what the results actually mean.

Blood Tests

One way to screen for spina bifida is through blood tests during pregnancy. A common test is the Maternal Serum Alpha-Fetoprotein (MSAFP) test. This test checks for a protein (AFP) produced by the baby. Small amounts of AFP naturally enter the pregnant person's bloodstream. However, unusually high levels of AFP might suggest a neural tube defect like spina bifida. But high AFP levels can also be caused by factors like an inaccurate estimate of the baby's gestational age or multiple pregnancies. Therefore, a follow-up blood test might be needed to confirm the results. If AFP levels remain high, further evaluation, including an ultrasound, is necessary.

The MSAFP test is often combined with other blood tests to screen for other conditions, like Down syndrome (trisomy 21).

Ultrasound

An ultrasound is a more accurate way to diagnose spina bifida before birth. It can be performed during the first trimester (weeks 11-14) or the second trimester (weeks 18-22). A second-trimester ultrasound is often more conclusive in detecting spina bifida. The ultrasound can reveal physical characteristics associated with spina bifida, such as an open spine or abnormalities in the baby's brain. The ultrasound can also help determine the severity of the condition.

Amniocentesis

If the ultrasound suggests spina bifida, your doctor might recommend an amniocentesis. This involves using a needle to collect a sample of fluid surrounding the baby. This test can help rule out genetic disorders. However, amniocentesis carries a small risk of pregnancy loss. Always discuss this risk with your healthcare provider.

Important Note: It's essential to have open communication with your healthcare provider about prenatal testing options. They can explain the risks, benefits, and what the results mean in your specific situation.

Spina bifida treatment varies depending on the severity of the condition in a baby. A mild form called spina bifida occulta often doesn't need any treatment. However, other types of spina bifida require medical intervention.

Nerve function in babies with spina bifida can worsen without treatment. One treatment option is prenatal surgery, also called fetal surgery. This surgery is performed before the 26th week of pregnancy. During this procedure, the pregnant person's abdomen and uterus are opened. The surgeon then repairs the baby's spinal cord. Finally, the uterus and abdomen are closed. In some cases, this surgery can be done less invasively using a tool called a fetoscope. Small instruments are inserted through tiny openings in the uterus to perform the surgery on the baby.

Studies show that babies who undergo fetal surgery might have fewer disabilities and a lower need for walking aids like crutches. Fetal surgery may also decrease the risk of hydrocephalus (excess fluid in the brain). It's crucial to discuss this procedure with your healthcare provider to understand the potential benefits and risks to both you and your baby, such as premature birth and other complications.

A thorough evaluation is essential to determine if fetal surgery is appropriate. This specialized surgery should only be performed in facilities with experienced fetal surgeons, a team of specialists, and a neonatal intensive care unit (NICU). The team typically includes a fetal surgeon, pediatric neurosurgeon, maternal-fetal medicine specialist, fetal cardiologist, and neonatologist.

Many babies with a specific type of spina bifida called myelomeningocele are born in the breech position (feet first). A Cesarean delivery may be safer if the baby is in breech position or has a large cyst or sac.

Myelomeningocele requires surgery to close the opening in the baby's back within 72 hours of birth. Early surgery can help prevent infections from the exposed nerves and protect the spinal cord from further damage.

During this procedure, a neurosurgeon moves the spinal cord and exposed tissue inside the baby's body and covers them with muscle and skin. At the same time, the surgeon may insert a shunt into the baby's brain to manage hydrocephalus if present.

In babies with myelomeningocele, some nerve damage often occurs before birth. Ongoing care from a team of specialists, including surgeons, doctors, and therapists, is usually necessary. These babies may require additional surgeries for complications that arise. These complications can include weak legs, problems with bladder and bowel control, or hydrocephalus. Treatment typically begins soon after birth.

Treatment Options:

• Mobility Aids: As the child grows, exercises and devices like braces or crutches can help prepare their legs for walking. Some children may need walkers or wheelchairs. Physical therapy is also crucial. Regardless of the need for a wheelchair, children can learn to be independent and function well.
• Bowel and Bladder Management: Regular checkups and management of bowel and bladder function are essential to prevent damage to these organs. Tests like X-rays, kidney scans, ultrasounds, blood tests, and bladder function studies are used. These tests are more frequent in the early years and become less frequent as the child ages. A pediatric urologist experienced in spina bifida care can provide the best management. Treatment may include medications, suppositories, enemas, surgery, or a combination.
• Hydrocephalus Management: Most babies with myelomeningocele need a shunt (a tube) to drain excess fluid from the brain. This tube, called a ventricular shunt, can be placed shortly after birth or later, depending on fluid buildup. A less invasive procedure called endoscopic third ventriculostomy is an option for some babies. A tiny video camera guides the surgeon to create a small opening that allows cerebrospinal fluid to drain.
• Other Complications: Special equipment like bath chairs, commode chairs, and standing frames can improve daily living. Most spina bifida complications can be managed to improve a child's quality of life. This includes orthopedic issues, tethered spinal cord, digestive problems, skin conditions, and other complications.

Ongoing Care and Support:

Children with spina bifida need regular follow-up care from a coordinated team of specialists. This care team may include physical medicine and rehabilitation specialists, neurologists, neurosurgeons, urologists, orthopedists, physical therapists, occupational therapists, special education teachers, social workers, and nutritionists. Parents and caregivers are essential members of this team. They can learn how to help manage the child's condition, and to encourage and support the child's emotional and social well-being.

Living with spina bifida can bring many emotions. However, with support and encouragement, people with spina bifida can lead full, active, and productive lives. They can attend college, hold jobs, and start families. Appropriate accommodations may be necessary, but independence is a key goal. This may include walking with or without aids, using canes or crutches, or using a wheelchair. Encourage participation in activities with peers.

Learning disabilities are possible, and some children may need additional support from professionals outside of school. Mental health professionals, like child psychologists, can help with adjustment and coping. Children with spina bifida are often resilient and adaptable with the support of their families, teachers, and caregivers.

Support groups for parents of children with spina bifida can be extremely helpful. Sharing experiences and challenges with others facing similar situations can be a great source of comfort and understanding.

Receiving news that your newborn has spina bifida can be overwhelming. It's important to remember that people with spina bifida lead fulfilling lives, just like anyone else. They can go to college, work, and have families. They might need some extra help along the way, but it's crucial to encourage their independence.

Encouraging independence is key for children with spina bifida. This might mean learning to walk with braces, using walking aids like canes or crutches, or using a wheelchair. The goal is for them to be as self-sufficient as possible. It's important to support their participation in activities with their peers. If needed, caregivers can modify activities to fit their physical abilities. This could involve adjusting the activity's location, duration, or the equipment used.

Many children with spina bifida have normal intelligence, but some might have learning differences that require extra support. These differences could include difficulties with attention, focus, or language. In these cases, working with specialists outside the school system can be beneficial. This might involve therapists or other professionals.

Just like any child with a long-term health condition, a child with spina bifida might also benefit from support from a mental health professional, such as a child psychologist. This can help them with adjusting to their condition and developing healthy coping mechanisms.

Most children with spina bifida are strong and adaptable. They thrive with the support of their parents, teachers, and other caregivers. Finding a support group for parents of children with spina bifida can be incredibly helpful. Sharing experiences and advice with other parents who understand the challenges can provide valuable emotional support and practical guidance.