Spina Bifida Causes, SYmptoms, Diagnosis, Treatment, Prevention

Spina Bifida Causes, SYmptoms, Diagnosis, Treatment, Prevention


What is Spina Bifida?


Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with spina bifada sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The three most common types of spina bifada are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges protrude from a spinal opening; and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. Spina bifada may also cause bowel and bladder complications, and many children with spina bifada have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

Spina Bifida Causes, SYmptoms, Diagnosis, Treatment, Prevention


What are the different types of spina bifida?


There are four types of spina bifida: occulta, closed neural tube defects, meningocele, and myelomeningocele.

Occulta is the mildest and most common form in which one or more vertebrae are malformed. The name "occulta," which means "hidden," indicates that the malformation, or opening in the spine, is covered by a layer of skin. This form of spina bifida, present in 10 to 20 percent of the general population, rarely causes disability or symptoms.

Closed neural tube defects make up the second type of spina bifida. This form consists of a diverse group of spinal defects in which the spinal cord is marked by a malformation of fat, bone, or membranes. In some individuals there are few or no symptoms; in others the malformation causes partial paralysis with urinary and bowel dysfunction.

In the third type, meningocele, spinal fluid and the meninges protrude through an abnormal vertebral opening; the malformation contains no neural elements and may or may not be covered by a layer of skin. Some individuals with meningocele may have few or no symptoms while others may experience symptoms similar to closed neural tube defects.

Myelomeningocele, the fourth form, is the most severe and occurs when the spinal cord/neural elements are exposed through the opening in the spine, resulting in partial or complete motor paralysis and sensory deficits within the parts of the body below the spinal opening. The paralysis may be so severe that the affected individual is unable to walk and may have urinary and bowel dysfunction.

Causes and rick factors of spina bifida 


The causes of spina bifida (myelomeningocele) are unknown, although a number of risk factors have been identified.

Folic acid


Not having enough folic acid during pregnancy is the most significant risk factor for spina bifida. Folic acid is a vitamin that occurs naturally in some foods, such as broccoli, peas and brown rice. It is also added to foods, such as some breakfast cereals and folic acid tablets are available from pharmacies, supermarkets and health stores.

It is estimated that taking a folic acid supplement before you conceive and while you are pregnant can prevent up to seven out of 10 cases of neural tube defects, such as spina bifida.

Exactly how folic acid helps prevent spina bifida is still uncertain. It may affect how the cells and tissue form in the developing baby..

Medication


Some types of medicine have been linked to an increased risk of spina bifida or other birth defects, including:
  • valproate
  • carbamazepine
  • lamotrigine
These medicines are used to treat epilepsy and some mood disorders, such as bipolar disorder.

Valproate causes neural tube defects, such as spina bifida, in one or two out of 100 cases. Exact figures for carbamazepine and lamotrigine are unknown but, due to the increased risk, it is recommended that sexually active women who are taking these medicines always use contraception.

If you are taking a medicine that increases the risk of spina bifida and you are planning a pregnancy, speak to your treatment team. Alternative medications may be available or it may be possible to change your dose. Taking extra folic acid supplements may also help minimise the risk.

You should never stop taking a prescribed medication unless advised to do so by your GP or another qualified healthcare professional responsible for your care.

Spina Bifida Causes, SYmptoms, Diagnosis, Treatment, Prevention
Spina Bifida

Family history


Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a baby with spina bifida.

Also, if you have previously had a child with spina bifida, your risk of having other children with the condition is significantly increased. There is about a one in 20 chance that other children you have will also have the condition.

Diabetes


Women with diabetes have an increased risk of giving birth to a child with spina bifida. This may be due to the excess glucose in the blood interfering with the child’s development.

Obesity


Women who are obese are at increased risk of giving birth to a child with spina bifida. Obese means that you have a body mass index (BMI) of 30 or more.

The more obese you are, the higher the risk. Severely obese women with a BMI of over 40 are thought to be three times more likely to give birth to a child with spina bifida than women who are a healthy weight.
You can use the healthy weight calculator to work out your BMI.

What are the signs and symptoms of spina bifida?


The severity of the symptoms usually depends on where on the spine the opening occurs and whether the baby also develops hydrocephalus (excess fluid on the brain).

An opening at the top of the spine is more likely to cause paralysis of the lower limbs and mobility difficulties, compared with openings in the middle or at the base of the spine. And the baby is more likely to have learning disabilities if he or she develops hydrocephalus.

Cognitive symptoms


Problems with the development of the neural tube also affect the development of the brain. The brain may not develop properly, leading to learning and other cognitive problems.

The cortex (the outside layers of the brain) may be thinner than usual, leading to difficulties with memory, organisation and concentration. The cerebellum may also be affected. It is the part of the brain thought to be responsible for important cognitive functions including language processing and physical co-ordination.
Abnormal brain development may also include a type 2 Arnold-Chiari malformation, where lower parts of the brain are pushed downwards towards the spinal cord.

Further brain damage can occur if hydrocephalus places excess pressure on the brain.

About six out of 10 children with spina bifida will have normal intelligence, although just over half of these will have some type of learning disability, such as:
  • a short attention span
  • difficulty solving problems
  • difficulty reading
  • difficulty understanding some spoken language, particularly fast conversations between a group of people 
  • difficulty organising activities or making detailed plans
  • difficulty with visual and physical co-ordination, for example tasks such as tying shoelaces or fastening buttons

Mobility symptoms


The brain controls all the muscles in the body with the nerves that run through the spinal cord. Any damage to the nerves can result in problems controlling the muscles.

Most children with spina bifida will experience some degree of paralysis in their lower limbs. If a child with spina bifida is partially paralysed, they may need to use ankle supports or crutches to help with their mobility. In cases of more severe paralysis, the child will require a wheelchair.

Paralysis can also cause other, associated problems. For example, as the muscles in the legs are not being used regularly, they can become severely weakened. As the muscles support the bones, this weakness can affect bone development. This can result in:
  • dislocated joints
  • misshapen bones
  • abnormal curvature of the spine (scoliosis)

Bowel and bladder symptoms


As well as controlling your limbs, the nerves that run through your spinal cord also control your bowel and bladder. They help to control the muscles that keep urine in the bladder and stools in the bowel (sphincter muscles). The bladder muscle may be very tight or twitchy, and only store a little urine. If left untreated this can lead to kidney and bladder damage.

Most people with spina bifida have limited or no control over their sphincter muscles and experience urinary and bowel incontinence without appropriate management.

Urinary incontinence can take the form of a constant slow dribble of urine from the bladder.

If a child has bowel incontinence, they may experience periods of constipation (inability to empty their bowels). This can then be followed by episodes of diarrhoea (loose, watery stools) or soiling due to stools overflowing from the bowel.

What are the complications of spina bifida?


Complications of spina bifida range from minor physical problems to severe physical and mental disabilities. It is important to note, however, that most people with spina bifida are of normal intelligence. Children with myelomeningocele and/or hydrocephalus (excess cerebrospinal fluid in and around the brain) may have learning disabilities, including difficulty paying attention, problems with language and reading comprehension, and trouble learning math.


Spina Bifida Causes, SYmptoms, Diagnosis, Treatment, Prevention
Spina Bifida

Spina bifida's impact is determined by the size and location of the malformation, whether it is covered by skin, and which spinal nerves are involved. All nerves located below the malformation are affected to some degree. Therefore, the higher the malformation occurs on the back, the greater the amount of nerve damage and loss of muscle function and sensation.

In addition to abnormal sensation and paralysis, another neurological complication associated with spina bifida is Chiari II malformation - a condition common in children with myelomeningocele - in which the brain stem and the cerebellum (hindbrain) protrude downward into the spinal canal or neck area. This condition can lead to compression of the spinal cord and cause a variety of symptoms, including difficulties with feeding, swallowing, and breathing control; choking; and changes in upper extremity function (stiffness, swelling).

Chiari II malformation may also result in a blockage of cerebrospinal fluid, causing hydrocephalus. The buildup of fluid puts damaging pressure on the these structures. Hydrocephalus is commonly treated by surgically implanting a shunt - a hollow tube - in the brain to drain the excess fluid into the abdomen.

Some newborns with myelomeningocele may develop meningitis, an infection in the meninges. Meningitis may cause brain injury and can be life-threatening.

Additional problems such as latex allergies, skin integrity breakdown, gastrointestinal conditions, disorders of sleep regulation, and depression may occur as children with spina bifida get older.

How is spina bifida diagnosed?


A pregnant woman can have a blood test (maternal serum triple or quadruple screen) and a fetal ultrasound to check for spina bifida and other problems with the fetus.

If test results suggest a birth defect, she can choose to have an amniocentesis. This test helps confirm if spina bifida exists. But the test also has risks, such as a chance of miscarriage.

After birth, doctors can tell if a baby has spina bifida by how the baby’s back looks. The doctor may do an X-ray, an MRI, or a CT scan to see if the defect is mild or severe.

How is spina bifida treated?


If your child is diagnosed with spina bifida (myelomeningocele) they will be assigned a team of healthcare professionals who will be involved with their care.

A care plan will be drawn up that addresses the needs of your child and any problems they have. As your child gets older, the care plan will be reassessed to take into account changes to their needs and situation.
You should also be assigned a keyworker who will be your first point of contact. This is likely to be a health visitor or a social worker as your child gets older.

There are several different treatments for the symptoms that spina bifida can cause.

Surgery to repair the spine


Surgery to repair the spine usually takes place within 48 hours of birth.

During surgery, the surgeon will place the spinal cord and any exposed tissues or nerves back into your baby’s body. Any gap in the vertebrae (the bones that make up the spine) is closed and the spinal cord is sealed with muscle and skin.

Further orthopaedic surgery

Further corrective surgery may be required if there are problems with bone development, such as scoliosis (abnormal curvature of the spine) or dislocated joints. This type of surgery is known as orthopaedic surgery.
A back brace is often also used to treat the symptoms of scoliosis.

Treating hydrocephalus


If your child has hydrocephalus (a build up of cerebrospinal fluid (CSF) on the brain), it will need to be treated with surgery. The surgeon will implant a thin tube called a shunt to drain away excess fluid to another part of the body, usually the abdomen (tummy).

In most cases, the shunt will remain for the rest of your child's life. Further surgery may be needed if:
  • the shunt becomes blocked or infected 
  • they grow out of the shunt and need a larger one implanted

Physiotherapy


Physiotherapy is one of the most important ways of helping your child manage their condition so they're as independent as possible. For spina bifida, the main aim of physiotherapy is to promote movement and independent mobility to prevent the leg muscles from weakening.

Daily physical exercises can help maintain strength in the leg muscles along with wearing special leg splints.

Occupational therapy


The aim of occupational therapy is to allow your child to develop skills in everyday activities.

An occupational therapist can identify problem areas in everyday life, such as getting dressed, and will help work out practical solutions. This can be by encouraging certain movements or providing equipment, such as handrails, to make the activity easier.

Occupational therapy can boost your child's self-esteem and improve their independence.

Assistive technology


Assistive technology can help children with spina bifida gain more independence and control over their symptoms.

Children with muscle weakness of the lower limbs will require a wheelchair. Electric wheelchairs are available, but using a manual wheelchair can help maintain good upper body strength. Leg braces and other walking aids can be used by children who have weakness to the muscles of the lower legs.

Computers are a good tool for children with learning disabilities. Software is available to help children organise their activities and plan their school work. There are also many educational programmes that use text and sound to help improve a child’s reading ability.

Treating urinary incontinence


Treating urinary incontinence is another important way of boosting your child's self-esteem and helping them develop more independence.

It is important your child's bladder function is assessed by a urologist (a specialist in treating conditions affecting the urinary system) in the early weeks following birth.

Some of the most widely used treatments for urinary problems in cases of spina bifida are outlined below.

Clean intermittent catheterisation

Clean intermittent catheterisation (CIC) is a technique used to empty the bladder at regular intervals. A catheter is a small, flexible lubricated tube.

Your child’s urine will flow out of their bladder, through the catheter and into the toilet. Using a catheter can feel a bit painful or uncomfortable at first, but any discomfort should subside over time.

How often CIC will need to be performed will depend on your child’s individual circumstances. For example, some children will only need to perform CIC once a day, while others will need to use the technique up to six times a day.

Antimuscarinics

Antimuscarinics are medicines used to treat tight bladder muscles. They can increase the amount of urine the bladder can hold so you do not need to go to the toilet so often.

Antimuscarinics can cause a number of side effects, including:
  • a dry mouth
  • constipation (an inability to empty your bowels)
  • blurred vision
  • drowsiness

Surgical treatments

botulinum toxin – an injection of botulinum toxin can be used to paralyse the muscles of the bladder. The effects of the treatment last for around six months, after which time a further injection is needed.

artificial urinary sphincter (AUS) – an AUS has a silicone cuff surrounded by fluid, a pump and a balloon. The fluid around the cuff squeezes the urethra shut, keeping the urine in the bladder.

Mitrofanoff procedure – a surgical technique where the appendix (a small pouch in the abdomen) is removed and a channel created to an opening in or below your child's belly button (a stoma). A catheter can be placed in the stoma to empty the bladder.

Treating bowel incontinence


Children with urinary incontinence often have bowel incontinence as well. Some cases of bowel incontinence can be treated using a combination of dietary changes and toilet training techniques.

Some commonly used treatments are outlined below.

Anal irrigation

A catheter with a balloon is inserted into the rectum. The balloon is pumped up to make a seal, and water is pumped in to wash out the lower bowel. When the balloon is deflated, the catheter, water and contents of the bowel are emptied into the toilet.

Antegrade continence enema (ACE)

Antegrade continence enema (ACE) is a surgical procedure designed to make enemas easier and more convenient.

The surgeon uses the appendix to create a channel between the bowel and the abdomen. A stoma is then made in the surface of the abdomen. A catheter can be inserted into the stoma so that liquids can be passed into the bowel to wash out its contents through the anus.

Colostomy and ileostomy

These treatments are rarely used for children, but may help some adults.

During a colostomy, the surgeon will divert a section of the colon so it connects to a stoma in the abdomen. A pouch is connected to the stoma, which is used to collect the stools that would usually pass through the colon.

An ileostomy is a similar procedure to a colostomy, but in an ileostomy it is the end of the small intestine that is diverted to a stoma, rather than the colon.

Can spina bifida be prevented?


Folic acid, also called folate, is an important vitamin in the development of a healthy fetus. Although taking this vitamin cannot guarantee having a healthy baby, it can help. Recent studies have shown that by adding folic acid to their diets, women of childbearing age significantly reduce their risk of having a child with a neural tube defect, such as spina bifida. Therefore, it is recommended that all women of childbearing age consume 400 micrograms of folic acid daily. Foods high in folic acid include dark green vegetables, egg yolks, and some fruits. Many foods - such as some breakfast cereals, enriched breads, flours, pastas, rice, and other grain products - are now fortified with folic acid. Most multivitamins contain this recommended dosage of folic acid.

Women who have a child with spina bifida, have spina bifida themselves, or have already had a pregnancy affected by any neural tube defect are at greater risk (anywhere from five to 10 percent of the general population) of having a child with spina bifida or another neural tube defect. These women may benefit from taking a higher daily dose of folic acid before they become pregnant.

If you take medicine for seizures or acne, talk with your doctor before you get pregnant. Some of these medicines can cause birth defects.

Don't drink alcohol while you are pregnant. Any amount of alcohol may affect your baby’s health.

Things you can do to support your child:


Help your child be active and eat healthy foods.

Go to all scheduled doctor visits.

Talk to your doctor about early treatment. Most children who have spina bifida and their parents work with people such as physical therapists or occupational therapists starting soon after the baby is born. Therapists can teach parents and caregivers how to do exercises and activities with the child.

Keep your child away from latex products if he or she has a latex allergy.

If your child has bladder control problems, help him or her use a catheter each day. It can help prevent infection and kidney damage in your child.

If your child has little or no feeling in the limbs and can't sense pain, he or she may get injured and not know it. You may need to check your child’s skin each day for cuts, bruises, or other sores.

When your child is ready to go to school, talk with teachers and other school workers. Public schools have programs for people ages 3 through 21 with special needs.

Take good care of yourself so you have the energy to enjoy your child and attend to his or her needs.
Ask for help from support groups, family, and friends when you need it.