Spina bifida

Spina bifida is a fault in the development of the spine and spinal cord which leaves a gap in the spine.

Introduction

Spina bifida is a fault in the development of the spine and spinal cord which leaves a gap in the spine.

The spinal cord connects all parts of the body to the brain.

What causes spina bifida?

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.

In cases of spina bifida, something goes wrong and the spinal column (the bone that surrounds and protects the nerves) does not fully close. Spina bifida is also known as split spine.

The exact causes are unknown, but several risk factors have been identified, the most significant being a lack of folic acid before and at the very start of pregnancy.

Read more about the causes of spina bifida and preventing spina bifida

Myelomeningocele

There are a number of different types of spina bifida, the most serious being myelomeningocele (affecting one pregnancy in every 1,000 in Britain).

These pages focus on myelomeningocele and this is the type of spina bifida referred to whenever the term spina bifida is used.

In myelomeningocele, the spinal column remains open along the bones making up the spine. The membranes and spinal cord push out to create a sac in the baby’s back. This sometimes leaves the nervous system vulnerable to infections that may be fatal.

In most cases of myelomeningocele, surgery can be carried out to close the defect. However, damage to the nervous system will usually already have taken place, resulting in a range of symptoms, including:

Read more about the symptoms of spina bifida.

Most babies with myelomeningocele will also develop hydrocephalus, which is excess cerebrospinal fluid (CSF) surrounding the brain.

Hydrocephalus needs to be treated urgently with surgery as the pressure on the brain can cause brain damage.

Read more about hydrocephalus

Treating spina bifida

A number of different treatments can be used to treat symptoms or conditions associated with spina bifida.

These can include:

  • surgery on the spine – at birth to repair the spine, and corrective surgery later in life if further problems develop
  • surgery to treat hydrocephalus – for example, placing a shunt
  • therapies to help improve day to day life and boost independence – such as physiotherapy and occupational therapy
  • assistive technology – such as a manual or electric wheelchair or computer software to help with schoolwork and writing
  • treatments for bowel and urinary problems

Read more about how spina bifida is treated and complications of spina bifida.

It is 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.

Symptoms

Spina bifida can cause a wide range of symptoms that can be grouped into three general categories.

This includes:

These are described in more detail below.

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)

Read more about paralysis.

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.

Read more about bowel incontinence and urinary incontinence.

Causes

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

These are described below.

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.

Read preventing spina bifida for more information and advice about folic acid and folic acid supplements.

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.

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 doctor or another qualified healthcare professional responsible for your care.

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.

Diagnosis

Most cases of spina bifida (myelomeningocele) are detected during routine ultrasound scans carried out during antenatal appointments.

Spina bifida may be diagnosed during the ultrasound scan carried out around week 12 of the pregnancy or, more likely, during [the anomaly scan] carried out around weeks 18 to 21.

Read more about antenatal appointments and [checks and screening tests you may be offered during pregnancy].

Ultrasound scans

An ultrasound scan uses sound waves to create an image of the inside of your body. It is an entirely safe procedure.

Most hospitals offer women at least two ultrasound scans during their pregnancy. The first is usually at around eight to 14 weeks and may be able to detect problems with your baby’s spine that could indicate spina bifida if the condition is severe.

Read more about ultrasound scans.

The second ultrasound scan is known as an anomaly scan and is carried out around weeks 18 to 21 of your pregnancy. This scan aims to identify any physical problems with your baby. It is usually during this scan that spina bifida is diagnosed.

If tests confirm your baby has spina bifida, the implications should be fully discussed with you.

Treatment

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. These are described below.

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. Read more about how scoliosis is treated.

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

Read about complications of spina bifida for more information about problems that can affect the shunt and shunt repair surgery.

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.

Read more about physiotherapy.

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.

Read more about occupational therapy.

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.

Read more about paralysis for information about living with and treating this condition.

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.

Read more information about urinary catheterisation.

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.

Read more detailed information about these treatments and other surgical treatments for urinary incontinence.

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.

Read more about about how bowel incontinence is treated, including information on dietary changes, medication and surgical treatments for bowel incontinence.

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.

Read more information about a colostomy.

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.

Read more information about an ileostomy.

Complications

Spina bifida (myelomeningocele) can cause several health complications. It can also have a significant psychological (mental) effect either on those living with the condition or caring for someone with spina bifida.

Latex allergy

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 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.

Shunt malfunction

If you or your child has had a shunt fitted to treat hydrocephalus, there is a risk of it becoming blocked or infected. A shunt is a thin tube implanted in the brain. As your child grows, the shunt may become too small and need to be replaced.

It is estimated that four out of 10 shunts will need to be replaced within the first year of being fitted. Within 10 years, eight out of 10 shunts will need replacing. As most people with spina bifida need to have a shunt for the rest of their life, more than one replacement may be required.

Shunt blockage

A shunt blockage can lead to an excess build-up of fluid on the brain, which can cause brain damage. You should immediately contact your care team if you notice the following symptoms in your child:

  • their head growing larger
  • the soft spot (fontanelle) on their head being full or tense
  • poor feeding or being sick
  • crossed eyes
  • not being able to look up

Symptoms of a shunt malfunction in older children and adults include:

  • headache, nausea and vomiting
  • increased irritability, lethargy or drowsiness
  • changes in personality
  • confusion
  • visual problems, such as double vision or blurred vision
  • seizures (fits)
  • back pain
  • difficulty walking
  • a sudden change in continence patterns, for example, urinary incontinence in a person with no previous history of the condition

Surgery will be required to replace the malfunctioning shunt.

Shunt infection

It is also possible for the shunt to be infected. The infection begins during surgery, but symptoms usually show around two months later.

The symptoms of shunt infection vary depending on the type of shunt you have, but may include:

  • a high temperature (fever)
  • headache
  • vomiting
  • neck stiffness
  • pain in your tummy (if the shunt drains into your tummy)
  • irritability or drowsiness in babies

The shunt will need to be replaced.

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 also 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. It can also help you to cope with any fears or concerns you have. Raising a child with spina bifida can be challenging and at times stressful, but also a rewarding and fulfilling experience.

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 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 with spina bifida may experience erectile dysfunction as a result of nerve damage. This can usually be treated with medication.

Read more about erectile dysfunction for information about this condition and how it is treated.

Prevention

The most effective way to prevent spina bifida (myelomeningocele) is to take folic acid supplements both before and during pregnancy.

Women thought to be at higher risk of having a child with spina bifida may need a higher dose of folic acid. This includes women who:

  • have diabetes
  • are taking medicines, such as carbamazepine, used to treat epilepsy

Your doctor will advise you about this.

Folic acid tablets are available on prescription or from pharmacies, large supermarkets and health food stores. Natural sources of folic acid include:

  • broccoli
  • peas
  • asparagus
  • brussels sprouts
  • chickpeas
  • brown rice
  • some bread
  • some breakfast cereals

If you are taking medication for a condition such as epilepsy, it is important you check with your doctor before taking folic acid. This is because some types of medication can cancel out the effects of folic acid supplements.

Read more about [vitamins and nutrition in pregnancy] on the [pregnancy and baby planner].

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