Spina bifida is a condition where the spine does not develop properly, leaving a gap in the spine.
During the first month of life, an embryo (developing baby) grows a structure called the neural tube that will eventually form the spine and nervous system. When something goes wrong with this process, the result is called a "neural tube defect". Spina bifida is one type of neural tube defect.
The spine consists of the spinal column, which is a solid structure made up of bones (called vertebral bodies) separated by discs of fibrous tissue. Behind this is an enclosed space called the spinal canal, which contains the spinal cord. The spinal cord connects all the nerves in the body to the brain. The canal is surrounded by arches of bone attached to the backs of the vertebral bodies.
In cases of spina bifida, something goes wrong and the arches of bone do not fully close. Sometimes there is only a gap in the bony arch, but at other times the spinal cord is also involved and does not form properly either. The skin over the arch can also either be intact or have a gap as well.
The exact cause is unknown, but several things can increase your risk of having a baby with the condition, the most significant being a lack of folic acid before and in the early stages of pregnancy.
Types of spina bifida
There are several different types of spina bifida.
Myelomeningocele is one of the most serious types of spina bifida. The opening in the spinal arches allows the spinal cord and the protective membranes surrounding it (the meninges) to push out and create a sac in the baby’s back.
It can be associated with significant damage to the spinal cord and can leave the nervous system vulnerable to life-threatening infections.
In meningocele, only the meninges push out of the opening in the spine.
This can usually be corrected with surgery and often no further treatment is required. The spinal cord and nervous system are not normally damaged, although some people with the condition may have symptoms such as bladder and bowel problems.
Spina bifida occulta
Spina bifida occulta is the most common and mildest type of spina bifida. The opening in the spine is very small and covered with skin. This means that the spinal cord and meninges can't push out and there is no obvious bulge in the back.
It doesn't usually cause any symptoms and most people are unaware they have it, although some people may have bladder and bowel problems, or weakness and reduced sensation in their legs.
These pages focus on myelomeningocele and this is the type referred to whenever the term spina bifida is used.
What problems does it cause?
In most cases of myelomeningocele, surgery can be carried out to close the opening in the spine. However, damage to the nervous system will usually already have taken place.
The damage to the spinal cord can lead to problems such as:
weakness or total paralysis of the legs
bowel incontinence and urinary incontinence
loss of skin sensation in the legs and around the bottom
Many babies will have or will develop hydrocephalus (excess fluid on the brain), which can further damage the brain. Most people with spina bifida will have a normal intelligence, but learning difficulties are common, especially with hydrocephalus.
How spina bifida is treated
A number of different treatments can be used to treat symptoms or conditions associated with spina bifida.
surgery soon after birth to close the opening in the spine and treat hydrocephalus
therapies to help make day-to-day life easier and improve independence, such as physiotherapy and occupational therapy
assistive devices and mobility aids, such as a manual or electric wheelchair, or walking aids
treatments for bowel and urinary problems, such as medication, draining urine from the bladder with a tube (catheter), anal irrigation systems and surgery
With appropriate treatment and support, it's likely that children with spina bifida will survive well into adulthood. It can be a challenging condition to live with, but many adults with spina bifida are able to lead independent and fulfilling lives.
If you have a child with spina bifida, or have been diagnosed with the condition yourself, you may find it useful to speak to others about the condition and discuss practical tips to help you cope with it.
Shine (formerly ASBAH) is Europe's largest spina bifida and hydrocephalus charity. Shine can provide you with details about local support groups and organisations.
Find and contact your regional Shine team .
Symptoms of spina bifida
Spina bifida can cause a wide range of symptoms that can be grouped into three general categories.
mobility symptoms – problems affecting movement
bladder and bowel problems – problems controlling urination and bowel movements
problems related to hydrocephalus (excess fluid on the brain)
The severity of the symptoms can vary considerably, largely depending on where on the spine the opening occurs.
Spina bifida causing a gap higher up the back is more likely to cause paralysis of the lower limbs and mobility difficulties compared with gaps in the middle or at the base of the back. A baby is more likely to have cognitive symptoms if he or she develops hydrocephalus.
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 weakness or paralysis in their lower limbs. If a child with spina bifida has weakness, 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 or deformed joints, bone fractures, misshapen bones and an 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).
Many people with spina bifida have limited or no control over their sphincter muscles, and experience urinary and bowel incontinence. The bladder muscle may be very tight or twitchy and only store a little urine, which can mean there is a constant slow dribble of urine from the bladder. If left untreated, this can lead to problems such as recurrent urinary tract infections (UTIs) and kidney damage.
Bowel incontinence may involve periods of constipation followed by episodes of diarrhoea or soiling, due to stools overflowing from the bowel.
There can also be problems with sexual function.
Problems related to hydrocephalus
Some babies with spina bifida will have or will develop hydrocephalus, which can damage the brain and cause further problems.
Most people with spina bifida will have normal intelligence, although many will have learning difficulties, such as:
a short attention span
difficulty solving problems
difficulty understanding some spoken language – particularly fast conversations between a group of people
difficulty organising activities or making detailed plans
They may also have difficulty with visual and physical co-ordination – for example, tasks such as tying shoelaces or fastening buttons.
Some babies with spina bifida have a problem called a type 2 Arnold-Chiari malformation (where lower parts of the brain are pushed downwards towards the spinal cord), which is linked to hydrocephalus.
These can cause additional symptoms soon after birth, such as irritability, seizures (fits), drowsiness, vomiting and poor feeding.
Causes of spina bifida
The cause of spina bifida is unknown, although a number of things that can increase the risk of the condition have been identified.
Lack of folic acid
Not having enough folic acid during pregnancy is one of the most important factors that can increase your chances of having a child with 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 that are available from pharmacies, supermarkets and health stores.
It's estimated that taking folic acid supplements before you conceive and while you are pregnant may prevent up to seven out of 10 cases of neural tube defects, such as spina bifida.
Exactly how folic acid helps to prevent spina bifida is still uncertain. It may affect how the cells and tissue form in the developing baby.
Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a baby with spina bifida.
If you have previously had a child with spina bifida, your risk of having other children with the condition is significantly increased – from less than 1 in 1,500 to around 1 in 25.
If you have a family history of spina bifida, it’s very important that you take high-dose folic acid, prescribed by your GP before you become pregnant, and for at least the first 13 weeks of pregnancy.
Taking certain medications during pregnancy has been linked to an increased risk of spina bifida and other birth defects.
Two medications particularly linked to spina bifida are valproate and carbamazepine. These are most widely used to treat epilepsy, but are also used to treat some mental health conditions, such as bipolar disorder.
Doctors will try to avoid prescribing these medications if there is a chance you could get pregnant while taking them, but they may be needed if the alternatives aren’t effective.
It's advisable to use a reliable form of contraception if you need to take one of these medications and aren't planning a pregnancy.
Tell your doctor if you are thinking about trying for a baby and you need to take one of these medications. They may be able to lower the dose of your medication and prescribe folic acid supplements at a higher than normal dose, to help reduce the risk of problems.
If you're not sure whether a certain medication could affect your pregnancy, check with your doctor, midwife or pharmacist before taking it.
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.
Some cases of spina bifida occur as part of a genetic condition affecting the chromosomes (bundles of genetic material found in cells).
Each cell in the body normally contains 23 pairs of chromosomes, but occasionally something goes wrong and a baby ends up with three versions of a particular chromosome.
These conditions include Patau syndrome, Edwards' syndrome and Down's syndrome.
Additional tests such as amniocentesis (where a sample of amniotic fluid is removed and tested) may be carried out during pregnancy if your baby is found to have spina bifida and it's thought it may have occurred alongside one of these conditions.
Women who are obese are more likely to have a child with spina bifida than those of an average weight.
Being obese means you have a body mass index (BMI) of 30 or more. You can use the healthy weight calculator to work out your BMI.
Women with diabetes may have an increased risk of giving birth to a child with spina bifida. This might be due to the excess glucose in the blood interfering with the child’s development.
Diagnosing spina bifida
Most cases of spina bifida are detected during a routine ultrasound scan carried out when you are around 18-20 weeks pregnant.
Ultrasound scans use sound waves to build a picture of the baby in the womb. They are completely painless and have no known side effects for mothers or babies.
During the scan, you lie on your back and some lubricating gel is put on your tummy. A small device is then passed backwards and forwards over your skin, and sound waves are beamed through your tummy into the womb. The sound is reflected back and creates a picture that is shown on a monitor.
This can usually show if your baby has the gap in their spinal canal associated with spina bifida.
If tests confirm that your baby has spina bifida, the implications will be discussed with you. This will include a discussion about the possible problems associated with the condition, the treatment and support your child may need if you decide to continue with the pregnancy, and what your options are regarding ending the pregnancy if you choose to.
Tests after birth
After giving birth to a baby with spina bifida, a number of tests may be carried out to assess the severity of the condition and help to decide which treatments are appropriate.
This may include:
measuring your child's head and carrying out a brain scan, using an ultrasound scan, a computerised tomography (CT) scan or a magnetic resonance imaging (MRI) scan, to check for signs of hydrocephalus (excess fluid on the brain)
ultrasound scans of the bladder and kidneys to check if your baby stores and passes urine normally
an assessment of your baby's movements to check for paralysis
In most cases, surgery to repair the spine will be recommended soon after your baby is born.
Treating spina bifida
If your child is diagnosed with spina bifida, you will be referred to specialist healthcare professionals who will be involved in their care.
A care plan may be recommended to address 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.
There are several different treatments for the various problems spina bifida can cause. These are described below.
Initial surgery to repair the spine
In babies with spina bifida, nerves and membranes are able to push out of an opening in the spine and form a sac. This damages the nerves and can lead to serious infections, so surgery to repair the spine will usually take place within 48 hours of birth.
During surgery, the surgeon will place the spinal cord and any exposed tissues or nerves back into the correct place. The gap in the spine is then closed and the hole is sealed with muscle and skin.
If your child has hydrocephalus (excess fluid on the brain), they will usually need 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 in place 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 is one of the most important ways of helping someone with spina bifida be as independent as possible.
The main aim of physiotherapy is to promote movement and prevent the leg muscles from weakening.
This may involve daily exercises to help maintain strength in the leg muscles, along with wearing special splints to support the legs.
The aim of occupational therapy is to help find ways to carry out 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 help boost self-esteem and allow a person with spina bifida to become more independent.
Assistive devices and mobility aids
Assistive devices can help people with spina bifida gain more independence and overcome their movement difficulties.
People who are unable to use their legs will usually require a wheelchair. Electric wheelchairs are available, but using a manual wheelchair can help to maintain good upper body strength.
Leg braces and other walking aids can be used by people who have weakness in their leg muscles.
Treating bone and joint problems
Further corrective surgery may be required if there are problems with bone development, such as hip dislocation or club foot (a deformity of the foot and ankle). This type of surgery is known as orthopaedic surgery.
Treating urinary incontinence
Many children and adults with spina bifida experience urinary incontinence, but there are a number of treatments that can be tried to help improve the problem.
Some of the most widely used treatments 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 that is inserted up the urethra (the tube that carries urine out of the body) and allows urine to flow out of the bladder and into the toilet.
How often CIC will need to be performed can vary. Some people will only need to do it once a day, while others will need to use the technique up to six times a day.
Antimuscarinics are medicines that can help to relax the 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, blurred vision and fatigue.
Surgery and procedures
A number of procedures can also be carried out to help control urinary incontinence, including:
botulinum toxin – an injection of botulinum toxin can be used to paralyse the muscles of the bladder. The effects of the treatment last a few months, after which time a further injection is needed.
artificial urinary sphincter (AUS) – an AUS has an inflatable 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 more easily.
augmentation cystoplasty – a procedure to make your bladder bigger by adding a piece of tissue from your intestine into the bladder wall.
Treating bowel incontinence
Children and adults 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.
including information on dietary changes, medication and surgical treatments for bowel incontinence.
Some commonly used treatments are outlined below.
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 tummy. An opening (stoma) is then made in the surface of the tummy. 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 create a stoma in the tummy. A pouch is connected to the stoma, to collect stools.
An ileostomy is a similar procedure to a colostomy, but the end of the small intestine, rather than the colon, is diverted to create a stoma.
Support at school
Most children with spina bifida will have a normal level of intelligence and they will often be able to attend a mainstream school.
However, they may need some support to help them with any learning disabilities they may have, as well as any physical problems, such as incontinence.
If you think your child may need extra support at school or nursery, talk to their teacher or the special educational needs co-ordinator (SENCO).
The SENCO can spend some time with your child to work out what kind of extra support they might need. For example, this may be a different way of teaching, or having another adult in the classroom. Your child may be referred for an Education, Health and Care Needs Assessment..
Complications of spina bifida
Spina bifida can cause several health complications. It can also have a significant psychological effect on those living with the condition and their carers.
Bladder and kidney problems
Many people with spina bifida have problems storing and passing urine. This can sometimes lead to:
recurrent urinary tract infections (UTIs)
hydronephrosis (where one or both kidneys become stretched and swollen as a result of a build-up of urine inside them)
Signs of a urinary tract infection can include a high temperature (fever) and blood in your urine. You may also have an ache or pain in your back or side, and pain when urinating.
Because of this risk, you may need to have regular appointments to monitor bladder and kidneys. This may involve ultrasound scans, as well as tests to measure the volume or your bladder and the pressure inside it.
In some cases, you may need long-term antibiotic treatment to prevent UTIs.
If you have spina bifida, you may have reduced sensation in your legs because the nerves are unable to send clear signals to the brain.
This could mean that it's hard for you to tell when you have damaged the skin on your legs, either due to an injury, a burn, or prolonged pressure (for example, from sitting for a long period of time).
If you injure yourself without realising it, there is a risk your skin could become infected or develop into a long-lasting ulcer (open sore), so it's important to check your skin regularly for any signs of injury.
Children and adults with spina bifida can develop an allergy to latex. Latex is a type of naturally occurring rubber used to create products such as latex gloves, masks and other items of clothing, as well as some types of medical equipment.
Symptoms can range from a mild allergic reaction – watery eyes and skin rashes – to a severe allergic reaction, known as anaphylactic shock. Anaphylactic shock can be life-threatening and requires immediate treatment with an injection of adrenalin.
You should tell medical professionals involved with your care if you or your child is allergic to latex, as alternative materials can be used.
Psychological effects on parents
Being told your unborn baby has spina bifida can be a traumatic experience. You may have feelings of grief, anger, shock, fear and guilt. Parents are also often concerned about what will happen in the months and years ahead and, in particular, what extra support and care their child will need.
If your child has spina bifida, discuss your concerns with your care team. Psychological support can be made available to help you cope with what is sure to be a difficult time.
Talking to other parents with experience of spina bifida is a good way to find out more about the practicalities of raising a child with the condition and can help you to cope with any fears or concerns you have.
Psychological effects on children and young people
Young children with spina bifida are often able to cope relatively well with the condition. Problems tend to develop as a child gets older and they begin to mix with other children.
During this period, children become more aware of how their condition makes them different from other children. Some children with spina bifida become reserved and withdrawn, while others begin to exhibit challenging behaviour due to a sense of anger or frustration.
Encouraging your child to participate in activities with other children can help to boost their confidence and self-esteem.
The teenage years
The teenage years can be a particularly difficult time both for young people with spina bifida and their parents.
Tensions can develop as many young people want more independence, which some parents can be reluctant to give. Trying to increase your child’s independence while protecting them from harm can sometimes be a difficult balancing act.
Sex and sexuality
Sexuality can also be a sensitive area for young people with spina bifida. Like other teenagers, as they go through puberty they will develop sexual feelings and a sexual identity. However, a young person with spina bifida will be naturally concerned about how their condition may affect their ability to develop and maintain intimate relationships.
Teenagers are often reluctant to discuss these kinds of intimate issues with their parents, so they may benefit from talking to other qualified adults, such as a nurse or social worker.
There is no reason why young people with spina bifida cannot experience normal adult sexual relationships as they get older. However, some men and boys may experience erectile dysfunction as a result of nerve damage. This can usually be treated with medication.
Preventing spina bifida
The most effective way to prevent spina bifida is to take folic acid supplements before and during pregnancy.
You should take a 400 microgram folic acid tablet every day while you are trying to get pregnant and until you are 12 weeks pregnant. If you didn't take folic acid before you conceived, you should start as soon as you find out that you are pregnant.
Folic acid tablets are available on prescription or from pharmacies, supermarkets and health food stores.
You should also try to eat foods that contain folate (the natural form of folic acid), such as:
some bread, breakfast cereals and margarine
Women at high risk
Women thought to be at higher risk of having a child with spina bifida need to be prescribed a higher (5 milligram) dose of folic acid by their GP.
This includes women who:
have a family history of neural tube defects
have a partner with a family history of neural tube defects
have had a previous pregnancy affected by a neural tube defect
Your GP can advise you on this.
Women who are taking medication to treat epilepsy should consult their GP for advice, as they may also need to take a higher dose of folic acid.