Overview

Symptoms

Spina bifida can cause a wide range of symptoms, including problems with movement, bladder and bowel problems, and problems associated with hydrocephalus (excess fluid on the brain).

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 result in 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 aren't being used regularly, they can become very weak.

As the muscles support the bones, 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 urine. This is caused by the nerves that control the bladder not forming properly. It can lead to problems such as:

• urinary incontinence
• urinary tract infections (UTIs) 
• hydronephrosis – where one or both kidneys become stretched and swollen due to a build-up of urine inside them
• kidney scarring
• kidney stones

Due to the risk of infection, the bladder and kidneys will need to be regularly monitored. 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 stools 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.

Some babies have a problem where 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, vomiting and poor feeding.

Other problems

Other problems associated with spina bifida include: 

• skin problems – reduced sensation can make it difficult to tell when the skin on the legs has been damaged – for example, if the skin gets burnt on a radiator; if a person with spina bifida injures their legs without realising, the skin could become infected or an ulcer could develop; it's important to check the skin regularly for signs of injury
• latex allergy – people with spina bifida can develop an allergy to latex; symptoms can range from a mild allergic reaction – watery eyes and skin rashes – to a severe allergic reaction, known as anaphylactic shock, which requires an immediate injection of adrenalin; tell medical staff if you or your child is allergic to latex

Who can get it

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 your 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 still unclear 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 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 12 weeks of pregnancy.

Medication

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

Valproate and carbamazepine are medications 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 medications if there's 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 trying to get pregnant.

Tell your doctor if you're thinking about trying for a baby and you need to take one of these medications. 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 medication could affect your pregnancy, check with your doctor, midwife or pharmacist before taking it. Never stop taking a prescribed medication unless your GP or another healthcare professional responsible for your care advises you to.

Genetic conditions

Very rarely, spina bifida can occur 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 or chorionic villus sampling that can tell for certain 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 BMI 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

Treatment

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 various problems spina bifida can cause.

Initial surgey 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.

In most cases, the shunt remains 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

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 work out 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:

• antibiotics – 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 don't 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).