Spina Bifida

Spina Bifida

What is spina bifida?

Spina bifida is when a baby’s spine and spinal cord does not develop properly in the womb, causing a gap in the spine.

Spina bifida is a type of neural tube defect. The neural tube is the structure that eventually develops into the baby’s brain and spinal cord.

The neural tube starts to form in early pregnancy and closes about 4 weeks after conception.

In spina bifida, part of the neural tube does not develop or close properly, leading to defects in the spinal cord and bones of the spine (vertebrae).

It’s not known what causes spina bifida, but a lack of folic acid before and in the early stages of pregnancy is a significant risk factor.

Types of spina bifida

There are several different types of spina bifida, including:

  • myelomeningocele – the most severe type of spina bifida; the baby’s spinal canal remains open along several vertebrae in the back, allowing the spinal cord and protective membranes around it to push out and form a sac in the baby’s back
  • meningocele – another serious type of spina bifida where the protective membranes around the spinal cord (meninges) push out through the spine; the spinal cord usually develops normally so surgery can often be used to remove the membranes without damaging the nerves
  • spina bifida occulta – the most common and mildest type of spina bifida; 1 or more vertebrae does not form properly, but the gap in the spine is very small; spina bifida occulta does not usually cause any problems and most people are unaware they have it

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

Shine is a charity that provides help and support for people affected by spina bifida. 

Their website has more information about the other types of spina bifida.

Symptoms of spina bifida

Most people with spina bifida are able to have surgery to close the opening in the spine.

But the nervous system will usually already have been damaged, which can lead to problems such as:

  • weakness or total paralysis of the legs
  • bowel and urinary incontinence (difficulty controlling bowels and waterworks)
  • loss of skin sensation in the legs and around the bottom – the child is unable to feel hot or cold, which can lead to accidental injury

Many babies will have or develop hydrocephalus (a build-up of fluid on the brain), which can further damage the brain.

Most people with spina bifida have normal intelligence, but some have learning difficulties.

The severity of the symptoms of spina bifida varies considerably, largely depending on the location of the gap in the spine.

A gap higher up the spine is more likely to cause paralysis of the legs and mobility difficulties compared with gaps in the middle or at the base of the spine, which may only cause continence issues.

A baby is more likely to have learning difficulties if they develop hydrocephalus.

Movement problems

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

Most children with spina bifida have some degree of weakness or paralysis in their lower limbs. They may need to use ankle supports or crutches to help them move around. If they have severe paralysis, they’ll need 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 very weak.

The muscles support the bones so muscle weakness can affect bone development. This can cause dislocated or deformed joints, bone fractures, misshapen bones and an abnormal curvature of the spine (scoliosis).

Bladder problems

Many people with spina bifida have problems storing and passing pee. This is caused by the nerves that control the bladder not forming properly. It can lead to problems such as:

The bladder and kidneys will need to be regularly monitored because of the risk of infection. Ultrasound scans may be needed, as well as tests to measure the bladder’s volume and the pressure inside it.

Bowel problems

The nerves that run through the spinal cord also control the bowel and the sphincter muscles that keep poo in the bowel.

Many people with spina bifida have limited or no control over their sphincter muscles and have bowel incontinence.

Bowel incontinence often leads to periods of constipation followed by episodes of diarrhoea or soiling.

Hydrocephalus

Some babies with spina bifida have hydrocephalus (excess fluid on the brain), which can damage the brain and cause further problems.

Many people with spina bifida and hydrocephalus will have normal intelligence, although some will have learning difficulties, 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

They may also have problems with visual and physical co-ordination – for example, tasks such as tying shoelaces or fastening buttons.

In some babies the lower parts of the brain are pushed downwards towards the spinal cord. This is known as type 2 Arnold-Chiari malformation and is linked to hydrocephalus.

Hydrocephalus can cause additional symptoms soon after birth, such as irritability, seizures, drowsiness, being sick and poor feeding.

Causes of spina bifida

It’s not known what causes spina bifida but a number of things can increase the risk of a baby developing the condition.

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 (also known as vitamin B9) occurs naturally in some foods, such as broccoli, peas and brown rice. It’s also added to foods, such as some breakfast cereals. Folic acid tablets are available from pharmacies and supermarkets, or a GP may be able to prescribe them for you. 

It’s estimated that taking folic acid supplements before you conceive and while you’re pregnant may prevent up to 7 out of 10 cases of neural tube defects, such as spina bifida.

It’s not clear how folic acid helps prevent spina bifida. It’s likely that folic acid is needed for important biochemical reactions in the body.

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.

If you’ve previously had a child with spina bifida, your chance of having other children with the condition is increased.

If you have a family history of spina bifida, it’s very important that you take high-dose folic acid, prescribed by a GP before you become pregnant, and for at least the first 12 weeks of pregnancy.

Medicine

Taking certain medicines during pregnancy has been linked to an increased risk of having a baby with spina bifida or other birth defects.

Valproate and carbamazepine are medicines linked to spina bifida. They’re often used to treat epilepsy, and some mental health conditions, such as bipolar disorder.

Doctors will try to avoid prescribing these medicines if there’s a chance you could get pregnant while taking them, but they may be needed if the alternatives are not effective.

It’s advisable to use a reliable form of contraception if you need to take one of these medicines and are not trying to get pregnant.

Tell your doctor if you’re thinking about trying for a baby and you need to take one of these medicines. They may be able to lower the dose and prescribe folic acid supplements at a higher than normal dose, to reduce the risk of problems.

If you’re not sure whether a medicine could affect your pregnancy, check with your doctor, midwife or pharmacist before taking it. Never stop taking a prescribed medicine unless a GP or another healthcare professional responsible for your care advises you to.

Genetic conditions

Very rarely a baby can have spina bifida alongside a genetic condition such as Patau’s syndrome, Edwards’ syndrome or Down’s syndrome.

If your baby is found to have spina bifida and it’s thought they may also have one of these syndromes, you’ll be offered a diagnostic test, such as amniocentesis. These tests can confirm if your baby has one of these genetic conditions. 

Other risk factors

Other risk factors for spina bifida include:

  • obesity – women who are obese (have a body mass index of 30 or more) are more likely to have a child with spina bifida than those of average weight
  • diabetes – women with diabetes may have an increased risk of having a child with spina bifida.

What will happen after my 20 week anomaly scan revealed my baby has spina bifida?

You will be referred to a fetal medicine specialist who will scan your baby in detail and discuss the severity with you, the possible outlook and managment options. Occasionally they may recommend other tests such as amniocentesis to look at the genetic make-up of the baby, or a MRI to assess the spine in more detail. In some circumstances, they may talk to you about the possibility of fetal surgery to treat the spina bifida while the baby is still growing in the womb. This surgery is offered in London and more information about this possible treatment is available here.

Occasionally the spina bifida may sadly be so severe that the baby may not have a good quality of life after birth. In these cases you may feel it is kinder to stop the pregnancy. More information on stopping a pregnancy is available here.

What are the long term treatments for a child with spina bifida?

If your child is diagnosed with spina bifida, they’ll be referred to a specialist team who will be involved in their care.

A care plan may be drawn up to address your child’s needs 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.

Initial surgery to repair the spine

In babies with spina bifida, nerves and membranes can push out of an opening in the spine and form a sac. This damages the nerves and can lead to serious infections, so your baby will usually have surgery to repair the spine within 48 hours of birth.

During surgery, the surgeon will put 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 sealed with muscle and skin.

Although this will repair the defect, unfortunately it cannot reverse any nerve damage.

Treating hydrocephalus

Surgery is usually needed if your child has hydrocephalus (excess fluid on the brain). The surgeon will implant a thin tube called a shunt to drain away excess fluid to another part of the body, usually the tummy.

The shunt will usually need to remain in place for the rest of the child’s life. Further surgery may be needed if:

  • the shunt becomes blocked or infected
  • the child grows out of the shunt and needs a larger one

Read about treating hydrocephalus and complications of hydrocephalus.

Physiotherapy

Physiotherapy is an important way of helping someone with spina bifida to become as independent as possible. The main aim is to help with movement, prevent deformity, and stop the leg muscles weakening further.

This may involve daily exercises to help maintain strength in the leg muscles, as well as wearing special splints to support the legs.

Occupational therapy

Occupational therapy can help people find ways to carry out everyday activities and become more independent.

An occupational therapist can help find practical solutions to problems such as getting dressed. For example, they may provide equipment, such as handrails, to make the activity easier.

Mobility aids

People who are unable to use their legs at all will usually need a wheelchair. Electric wheelchairs are available, but using a manual wheelchair can help maintain good upper body strength.

Leg braces, splints and other walking aids can be used by people who have weak leg muscles.

Treating bone and joint problems

Further corrective surgery may be needed 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 bladder problems

Many people with spina bifida have problems controlling their bladder.

Treatments for bladder problems include:

  • lifelong antibiotics are sometimes needed to help prevent kidney and urinary infections
  • medicines – that help relax the bladder so it can store more pee
  • urinary catheterisation – an intermittent urinary catheter is usually needed to drain pee from the bladder several times a day to help prevent infection
  • bladder surgery – may involve enlarging the bladder so it can hold more pee, or connecting the appendix to the bladder and making an opening in the belly so that a catheter can be used more easily

Treating bowel problems

Bowel problems, particularly constipation, are often a problem for people with spina bifida.

Treatments for bowel problems include:

  • laxatives – a type of medicine to help empty the bowels
  • suppositories and enemas – medicines put into the bottom to help stimulate the bowels and relieve constipation
  • anal irrigation – where using special equipment, you pump water through a tube into your bottom to clean out your bowels; this can be done at home once you’ve been trained in using the equipment
  • antegrade continence enema (ACE) – an operation to create a channel between the bowel and a small opening (stoma) on the surface of the tummy; this means liquids can be passed through the opening in the tummy to flush stools out of the bottom
  • colostomy – surgery to divert one end of the large bowel through an opening in the tummy; a pouch is placed over the opening to collect stools; a colostomy may be recommended if other treatments do not work

Support at school

Most children with spina bifida have a normal level of intelligence and are often be able to attend a mainstream school.

However, they may need support to help with any learning disabilities they 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).

Further reading

Spina Bifida – Shine (shinecharity.org.uk)