What type of genetic disorder is spina bifida?
Is spina bifida a disease or disorder?
Is spina bifida a neurodevelopmental disorder?
Spina bifida is a neurogenetic disorder with a complex etiology that involves genetic and environmental factors. The most common form of spina bifida, myelomeningocele is often used interchangeably with spina bifida.
Is spina bifida a musculoskeletal disorder?
Why is spina bifida a genetic disorder?
Is spina bifida dominant or recessive trait?
Is spina bifida a chronic disease?
Why is spina bifida more common in teen mothers?
Is spina bifida lifelong?
Is spina bifida a neuromuscular disorder?
Are myelomeningocele and Meningomyelocele the same?
What is a Lipomeningocele?
What is spinal bifida?
Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect. The neural tube is the structure in a developing embryo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them. Normally, the neural tube forms early in pregnancy and it closes by ...
How severe is Spina Bifida?
Spina bifida can range from mild to severe, depending on the type of defect, size, location and complications. When necessary, early treatment for spina bifida involves surgery — although such treatment doesn't always completely resolve the problem.
What is Spina Bifida Occulta?
Spina bifida occulta results in a small separation or gap in one or more of the bones of the spine (vertebrae). Many people who have spina bifida occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons.
What causes spina bifida?
It's thought to result from a combination of genetic, nutritional and environmental risk factors, such as a family history of neural tube defects and folate (vitamin B-9) deficiency.
Is spina bifida more common in whites?
Spina bifida is more common among whites and Hispanics, and females are affected more often than males. Although doctors and researchers don't know for sure why spina bifida occurs, they have identified some risk factors:
Can diabetes cause spina bifida?
Women with diabetes who don' t have well-controlled blood sugar have a higher risk of having a baby with spina bifida. Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida. Increased body temperature.
Does obesity cause spina bifida?
Obesity. Pre-pregnancy obesity is associated with an increased risk of neural tube birth defects, including spina bifida. Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida .
What is the condition called when you have a baby with spina bifida?
Many infants born with spina bifida get extra fluid in and around the brain, a condition called hydrocephalus, or water on the brain. The extra fluid can cause swelling of the head, which may lead to brain injury.
Does Spina Bifida cause back pain?
Typically, the bottom of the spinal cord floats freely in the spinal canal, but for many people with spina bifida, the spinal cord is attached to the spinal canal. Thus, the spinal cord stretches as a person grows, and this stretching can cause spinal nerve damage. The person might have back pain, scoliosis (crooked spine, ...
Why is my spina bifida so high?
While researchers still don’t entirely understand why the rate in those with spina bifida is so high, some experts believe such an allergy can be caused by frequent exposure to latex, which is common for people with spina bifida who have shunts and have had many surgeries. 2.
What causes spina bifida?
All of the exact causes of spina bifida are not specifically understood. However, it involves a combination of genetics and environmental factors. A child born with spina bifida may not have any relatives with the condition, even though genetics play a factor.
Is spina bifida genetic?
All of the exact causes of spina bifida are not specifically understood. However, it involves a combination of genetics and environmental factors. A child born with spina bifida may not have any relatives with the condition, even though genetics play a factor.
Where is Spina Bifida?
It’s when the spinal cord, brain, or meninges (their protective covering) does not completely develop. It can be anywhere along the spine and usually can be seen in an opening in the baby’s back at birth. It may also appear as a sack of fluid that has grown outside the body on the spine. This sack may or may not include the spinal cord inside.
Does Spina Bifida have a spinal cord?
This type of spina bifida also involves a sack of fluid outside an opening in the baby’s back. However, the sack does not contain any part of the spinal cord. Because there isn’t a lot of nerve damage, meningocele causes only minor disabilities.
Is there a gap in the spine in a baby with spina bifida?
It may also go by the term “hidden” spina bifida. It does not cause any disabilities and may go unnoticed until later in life. There is usually no opening in the baby’s back, but only a gap in the spine. In this type, there is no damage to the spinal cord or the nerves.
What are the symptoms of Spina Bifida Occulta?
Symptoms of spina bifida occulta include: a gap in between vertebrae. no visible opening outside. no fluid-filled sack outside the body. small birthmark or dimple on the back. small group or cluster of hair on the back. an area of extra fat on the back.
Can a child with spina bifida go to college?
Coping mechanisms, medications, therapies, and any walking aids are normally in place. Many children with spina bifida grow up to attend college and have careers. Some also live independently. However, ongoing medical issues can develop throughout the life of a person with spina bifida.
What are the different types of Spina Bifida?
What You Need to Know 1 Spina bifida is term used to identify a set of conditions that affect the development of the spinal cord and vertebrae. 2 The three main types of spina bifida are myelomeningocele, lipomeningocele and spina bifida occulta. 3 Spina bifida is often diagnosed in utero before a baby is born. 4 Children with spina bifida are often cared for by a variety of medical professionals, including a neurologist, orthopaedist and physical therapist, among others. 5 Treatment may include surgery, bracing, physical therapy and other forms of medical care based on each child’s needs.
What are the symptoms of spina bifida?
What are the signs and symptoms of spina bifida? 1 A midline vertebral body defect or cystic spinal cord lesion 2 Elevated maternal alpha-fetoprotein
What kind of doctor treats spina bifida?
Children with spina bifida are often cared for by a variety of medical professionals, including a neurologist, orthopaedist and physical therapist, among others. Treatment may include surgery, bracing, physical therapy and other forms of medical care based on each child’s needs.
How long does it take to cure Spina Bifida?
Spina Bifida Treatment. In the cases where an open myelomeningocele is present, surgery by a neurosurgeon is done within the first 48 hours of life . This surgery involves closure of the defect.
What are the symptoms of a newborn?
If the diagnosis is not made prenatally, the newborn baby may present with: 1 A fatty or fluid-filled mass to the lower back 2 A hairy patch or lumbosacral skin marking 3 Weakness in the legs
When does Spina Bifida occur?
Spina Bifida. Spina bifida occurs during the third and fourth weeks of pregnancy when a portion of the fetal spinal cord fails to properly close. As a result, the child is born with a part of the spinal cord exposed on the back.
How many people have Spina Bifida?
The Spina Bifida Association conservatively estimates that there are 70,000 people living in the United States with the condition. The prevalence appears to have decreased in recent years due in part to preventative measures followed by expectant mothers prior to and during pregnancy as well as prenatal testing.
Is Spina Bifida Occulta mild?
In many cases, spina bifida occulta is so mild that there is no disturbance of spinal function at all. Most people are not aware that they have spina bifida occulta, unless it is discovered on an x-ray performed for an unrelated reason.
Is folic acid safe for pregnancy?
Since half of all pregnancies in the United States are unplanned, folic acid must be taken whether a woman is planning a pregnancy or not. Research has shown that if all women of childbearing age took a multivitamin with the B-vitamin folic acid, the risk of neural tube defects could be reduced by up to 70%.
What are the different types of Spina Bifida?
Spina bifida is classified according to the type and severity of deformation of the spinal column. The disorder is divided into three different types: 1 Myelomeningocele. This is the most severe type of spina bifida. In this type, the spinal column fails to close in the middle or lower back. The bones of the spine do not form properly, and the spinal cord’s nerve tissue is abnormally exposed. As the spinal cord develops, the nerve tissue pushes through the opening and forms an unprotected sac on the baby’s back. This exposes the sensitive nerve tissue to potential damage and infection. 2 Meningocele. In this type of spina bifida, the bones of the spine are malformed, and a fluid-filled sac forms on the baby’s back at the location of the deformation. However, the nerve tissue of the spinal cord does not push into the sac. Because the nerve tissue is less exposed, the risk of severe complications is less than in the case of myelomeningocele. 3 Spina bifida occulta. In this type, the spine’s bones develop incorrectly, but no nerve tissue pushes through the opening. No sac forms on the baby’s back, and there are often no significant complications. This type of spina bifida may go undetected.
Can Spina Bifida be detected?
Spina bifida is most often detected before birth. In cases where the spinal column’s deformation is less severe, the condition might go unnoticed until after delivery. In very mild cases that cause no complications, spina bifida occulta might never be detected at all.
What is Spina Bifida occulta?
Spina bifida occulta. In this type, the spine’s bones develop incorrectly, but no nerve tissue pushes through the opening. No sac forms on the baby’s back, and there are often no significant complications. This type of spina bifida may go undetected.
Can a blood test show spina bifida?
Blood tests are a screening tool to look for the possibility of a neural tube defect, but they do not, on their own, definitively indicate that spina bifida is present. A definitive diagnosis is usually made through imaging. Blood Tests.
What is the purpose of ultrasound scans?
Ultrasound scans can show spina bifida when performed during the second trimester of pregnancy and are the definitive method of diagnosing the defect before the baby is born. Postnatal Testing.
Description
- Spina bifida is a birth defect that occurs when the spine and spinal cord don't form properly. It falls under the broader category of neural tube defects. The neural tube is the embryonic structure that eventually develops into the baby's brain and spinal cord and the tissues that enclose them.Normally, the neural tube forms early in pregnancy, and it closes by the 28th day after conc…
- Meningocele repair is an operation used to address a spinal birth defect. If your newborns spine didnt develop correctly, an abnormal opening may be present and this operation may be necessary. This procedure may also be performed if a small, swollen sac or cyst protrudes from the newborns spinal column.
- Spina bifida (cleft spine) is a birth defect affecting the spinal column. Spina bifida progresses from a cleft, or splitlike opening, in the back part of the backbones (the spinal vertebrae). In more severe cases, it involves the spinal cord. Spina bifida is the most common of a group of birth defects known as neural tube defects, which affect the central nervous system (brain and spina…
- Spina bifida is a congenital abnormality of the spine in which the vertebrae fail to develop normally. Depending on the severity of the defect, it can manifest as anything from a devastatingly malformed, exposed spinal cord to a wholly inconsequential, incidental finding observed only on X-rays and for which the patient requires no treatment. The lumbar spine (lowe…
Types
- The two forms of spina bifida are spina bifida occulta and spina bifida aperta: 1. Spina bifida occulta is the mildest form of the condition and can go unnoticed. \"Occulta\" means \"hidden\" in Latin, which in this case means that the defect is covered by skin. The spinal cord does not stick out through the skin, although the skin over the lower spine may have a patch of hair, a birthmar…
Cause
- Doctors aren't certain what causes spina bifida. As with many other problems, it appears to result from a combination of genetic and environmental risk factors, such as a family history of neural tube defects and folate deficiency.
- Meningocele is a type of spina bifida. About 1,500 babies are born with this condition each year. The defect can happen anywhere along the spine where the neural tube doesnt close as it should. This leaves an opening in the spine. There isnt any one cause of spina bifida. Your genetic makeup plays the most significant role. Getting enough folic acid during pregnancy has been sh…
- Spina bifida begins in the womb, when the tissues that fold to form the neural tube do not close or do not stay closed completely. This causes an opening in the vertebrae, which surround and protect the spinal cord. This occurs just a few weeks (21 to 28 days) after conceptionusually before the woman knows that she is pregnant. There are 3 types of spina bifida. Both genetic fa…
- Spina bifida is one of the most commonly occurring inborn disorders (birth defects) in the United States, affecting more infants each year than muscular dystrophy and cystic fibrosis combined. The disorder is caused by the incomplete development of the fetus' spine during the first month of pregnancy. Myelomeningocele is the most severe form of spina bifida, occurring nearly once for …
Treatment
- Once the baby is diagnosed with meningocele, the doctor will most likely schedule surgery as soon as possible. An early surgery may prevent infection, swelling, and further damage to the spinal cord. Until the surgery, the defect will be covered with a sterile dressing. Your child may be transferred to a neonatal intensive care unit. During the surgery, general anesthesia will be used …
- The term spina bifida often is used interchangeably with myelomeningocele, since this is the type of spina bifida that causes the vast majority of disability. Fortunately, surgery is an effective treatment in most people with spina bifida. Most infants with an open spine or myelomeningocele undergo surgery within the first 48 hours of life to close the defect. Antibiotics are given to preve…
- Rarely, spina bifida occulta will cause problems when a child grows to adolescence. By this time in the child's life, the spinal cord has become fastened to the backbone. When the growth spurt of adolescence begins, the nerves of the spinal cord become stretched. The result can be difficulties such as weakness and numbness in the legs, bladder infections, and incontinence (lack of bladd…
- Treatment for spina bifida depends on its severity. Because spina bifida can involve many different body systems, like the nervous and skeletal systems, children may need support from a team of medical professionals. This team may include doctors (such as neurosurgeons, urologists, and orthopedic surgeons), physical and occupational therapists, and social workers.…
Signs And Symptoms
- Signs and symptoms of spina bifida vary by type and severity. Symptoms can also differ for each person. 1. Spina bifida occulta. Because the spinal nerves usually aren't involved, typically there are no signs or symptoms. But visible indications can sometimes be seen on the newborn's skin above the spinal defect, including an abnormal tuft of hair, or a small dimple or birthmark. 2. Me…
- This is considered to be a mild form of the defect. The spinal cord and surrounding structures are still inside the baby, but the bones of the lower back fail to form normally. This leaves a hairy patch or dimple over the affected area of the spine. This is seen as mild to moderate and is the least common. A small, moist sac or cyst protrudes through the gap in the spine. This sac conta…
- Even individuals with no apparent symptoms or disability from spina bifida may have subtle or mild signs or neurological problems. Some, for example, have a dimple, darkening, or small hairy patch on the skin overlying the base of the spine. Others have a fatty growth called an epidural lipoma that forms within the spinal canal; this is usually harmless but may result in tethering of t…
- Infants born with myelomeningocele often have paralysis or weakness below the level of the spinal lesion. This affects the lower limbs along with problems with bladder and bowel function. In extreme cases, the trunk and upper extremities are involved.
Prevention
- Folic acid, taken in supplement form starting at least one month before conception and continuing through the first trimester of pregnancy, greatly reduces the risk of spina bifida and other neural tube defects.
- Research has suggested that many cases of spina bifida can be prevented by adequate intake of folic acid (folate) before and during early pregnancy. However, people with spina bifida appear to have abnormal metabolism of folic acid. This suggests that the underlying problem in spina bifida may be an inborn defect in folic acid metabolism rather than a simple deficiency in this nutrient. …
- There's no cure for spina bifida and nothing can be done to repair the damaged nerves or reconstruct the central nervous system. Although spina bifida is not a progressive condition, some of its complications, such as hydrocephalus, may get steadily worse. For most people, the lesion is closed shortly after they're born, and there is no further treatment of the condition itself.…
- Many cases of spina bifida can be prevented if women of childbearing age take 0.4 milligrams (400 micrograms) of folic acid every day before pregnancy and continue to take it throughout the first trimester. Some women may have to take more folic acid, especially if they are taking the medicine valproic acid for epilepsy or depression.Because many women don't find out that they'r…
Diagnosis
- Certain diagnostic tests performed during pregnancy can detect spina bifida before the baby is born. Blood tests performed between 15 and 20 weeks can reveal if the fetus is at risk of a neural tube defect. A prenatal ultrasound that takes images of the fetus tissues and organs may also lend some insight. An amniocentesis test may also be performed. During this test, the doctor wil…
- Expectant parents may be able to find out if a baby has spina bifida by taking certain prenatal tests. The alpha-fetoprotein (AFP) test is a blood test done between the 16th and 18th weeks of pregnancy. This test measures how much AFP, which the fetus produces, has passed in the mother's bloodstream. If the amount is high, a repeat test may be done to make sure that the res…
- Spina bifida can be easily diagnosed at birth. Myelomeningocele and meningocele are clearly visible, and spina bifida occulta is often suggested by a tuft of hair or skin dimple over the low end of the spine. This can be confirmed with an ultrasound or a magnetic resonance imaging (MRI) scan, which will reveal the size and location of any spinal lesions.It's also possible to detect it be…
- 1. Spine segmental dysgenesis: A sporadic disorder characterised by congenital acute-angle kyphosis or kyphoscoliosis that is localised to a spinal segment, usually in the thoracolumbar or upper lumbar spine. 2. Caudal regression syndrome (sacral agenesis): A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine. 3. Multiple Vertebral Segme…
Prognosis
- Before antibiotics were available, most children born with myelomeningocele died soon after birth. Those who survived were severely disabled. With modern treatment, almost all children with myelomeningocele survive and most are able to live productive lives with some degree of independence. Even with these treatments, however, most have some degree of permanent leg …
- As a result of today's sophisticated medical techniques and interventions, a child with spina bifida often lives well into adulthood.
- With the advent of prenatal surgery, early repair of postnatal myelomeningocele, shunting to prevent hydrocephalus and expectant management of complications, most patients born with spina bifida survive into adulthood and develop relatively normally intellectually. 1. Long-term survival depends on adherence to appropriate bowel and bladder regimens and careful manage…
Complications
- Spina bifida may cause minimal symptoms or only minor physical disabilities. If the spina bifida is severe, sometimes it leads to more significant physical disabilities. Severity is affected by: 1. The size and location of the neural tube defect 2. Whether skin covers the affected area 3. Which spinal nerves come out of the affected area of the spinal cordThis list of possible complication…
- Most people with spina bifida have some degree of paralysis, usually in the lower body, and may need wheelchairs or other aids to get around. The nature of the paralysis depends on the location and severity of the lesion in the spine. Some people with mild spina bifida occulta experience no physical problems at all. There may well be people with this condition who have never been diag…
- 1. Meningitis (especially in open neural tube defects). 2. Fractures (particularly of lower-limb long bones) and hip dislocations. These may be asymptomatic. There may be disuse osteoporosis and osteopenia. 3. Pressure sores because of problems with mobility. 4. Skin ulceration around orthoses/braces. 5. Hydrocephalus due to Arnold-Chiari II malformation causing developmental i…
Surgical Management
- Many specialists are involved in the treatment of these newborns, especially in the case of myelomeningocele.https://www.youtube.com/watch?v=ouMi5z1vwbE 1. Surgery. Surgery is required to close the open defect but may not be performed immediately, depending on the surgeon’s decision. 2. Prenatal surgery. In this procedure — which takes place before the 26th w…
- The management of spina bifida varies depending on the degree the individual is affected with the disease. Spina Bifida Occulta: 1. There is generally no medical treatment requiredSpina Bifida Meningocele: 1. Surgery is often performed early after birth, but severity of defecits after surgery depends on if there is neural tissue in the sac. Further treatment is similar to the management li…
- 1. Nurse any newborn with an open neural tube defect in the prone position and cover the defect with a sterile wet saline dressing. 2. A multidisciplinary team approach is needed in the management of an infant with spina bifida. 3. Treatment aims are to maximise mobility, prevent or ameliorate complications of spina bifida (particularly hydrocephalus), encourage as normal a…