Introduction

Spina bifida is a birth defect that affects the development of a baby’s spine and spinal cord during the first month of pregnancy. Spina bifida can occur anywhere along the length of the spine but usually presents in the lower region of the spine. 

The baby's developing spine fails to close properly resulting in the incomplete growth of the spinal cord, vertebrae and overlying skin which may affect each child differently.

A gap in the spine means that messages cannot pass between the body and the brain and can impact basic functions. Spina bifida is a life-long condition requiring ongoing medical intervention and support.

Babies born with spina bifida usually need to stay in the neonatal intensive care unit (NICU) for a several weeks where the medical team will assess your baby for surgery and related health issues.

Parents and carers are provided with support services for their baby.

 Signs and symptoms

The signs and symptoms of spina bifida vary depending on the type and severity of the condition. Signs and symptoms of spina bifida may include:

  • a small gap in one or more vertebrae, with no opening in the baby’s back- you might see a tuft of hair, small dimple or birthmark on a baby’s skin above the affected area.
  • a fluid sac which pushes through the vertebrae's gap
  • an opening in the spinal canal is open with a portion of the spinal cord or nerves protruding and exposed

Complications which may be caused by spina bifida include:

  • muscle weakness in the feet, hips or legs
  • loss of feeling in parts of the skin
  • bladder or bowel incontinence 
  • fluid on the brain
  • learning difficulties
  • spine difficulties such as scoliosis
  • sexual difficulties

Diagnosis

Spina bifida may be diagnosed during the ultrasound scan and blood test carried out at week 12 of pregnancy, or during the morphology scan performed at week 19 to 20. Once the diagnosis is made, families are often referred to the hospital’s spina bifida service for information and counselling.

There is no single cause for Spina Bifida. It is thought to be due to both genetic and environmental factors.

Genetic factors

The genetic factors are not well understood. In 95% of cases there is no family history, but people with a close relative (parent, sibling) with Spina Bifida are 5-10 times more likely to have a baby born with spina bifida.

Environmental factors

There is a link between spina bifida and the intake of folate (folic acid) in the diet before and during pregnancy. Folic acid is a B vitamin (B11) that comes from foods like:

  • leafy green vegetables.
  • citrus fruits, liver
  • legumes
  • fortified products such as breads and cereals.

Read the Australian Institute for Health and Welfare report

 Treatment

There is no cure for spina bifida. 

Treatment depends on severity, and whether surgery is an option to minimise the risk of infection and future disability. 

Some children with spina bifida undergo multiple surgeries throughout their life.

Surgery

For children with spina bifida, there is a spinal defect where nerves, tissue and the spinal canal may be exposed, which can lead to risk of infection and trauma. Some children may require surgery to place the spinal cord back into the spinal canal closing the defect and overlying skin. 

  • In an ‘open’ lesion (where there is no skin covering the protrusion), this procedure is usually done within the first few days of life. 
  • If the lesion is covered by skin, the surgery may take place at a later date. 

Your child's neurosurgeon will explain and discuss the options with you.

Children with spina bifida may suffer from tethered cord syndrome, where the spinal cord is limited in its movement due to tissue attachments within the spinal column. Your child will need regular medical reviews and regular bladder and kidney ultrasounds if this is the case.

Most children living with spina bifida will show some tethering on an MRI. The decision to perform surgery to operate on a tethered cord is based on the symptoms your child may have. Untethering surgery aims to prevent further deterioration. 

The longer symptoms remain untreated, the less chance a child has of full recovery from any deterioration. There is also a risk that the spinal cord can become tethered again even after untethering surgery.

Your medical team will work closely with you to create a treatment plan to help manage your day-to-day life with spina bifida. This includes plans for physical activity, health management and social activities.

Management

Bowel management

Most children with spina bifida have some loss of bowel control as the brain and the bowel are not working together as well as they should. The nerves that control the bowel, including the anus are located low in the spine. It may be difficult for your child to have normal continence with the two main issues involving constipation or incontinence.

An individual bowel program and regular toileting routines are important for a child with spina bifida. Factors that affect a successful bowel program include:

  • fluids and diet
  • consistent toileting time
  • position – sitting comfortably on the toilet
  • exercise
  • medication.

Stools (poo) that are too hard or too soft can be difficult to manage in children living with spina bifida. Stool consistency can be managed through diet, by adjusting the amount of fibre eaten and drinking plenty of water. Supplements or medications, like laxatives, bulking agents, lubricants and softeners can also be taken. Your doctor or nurse will guide you with an individual bowel program including information on how to monitor with the Bristol stool chart.

Some people need surgical intervention to enable them to have their bowels emptied. Surgeries are recommended only when all other methods have not been successful. Your healthcare team will discuss these procedures with your family before making any decisions.

Bladder management

The main goals of bladder management are to maintain good kidney function, prevent any kidney damage and reach and maintain social continence. Similar to bowel issues, children living with spina bifida have some loss of bladder control as the brain and bladder are not communicating as well as they should. The two main issues which may arise include retention (bladder not emptying properly) and incontinence (bladder leakage).

Urinary Tract Infections (UTI’s) can arise if the bladder isn't managed correctly. Intermittent catheterisation is used to improve bladder control, prevent infection and relieve pressure on the kidneys. A disposable catheter (plastic tube) is inserted into the child's bladder in order to help empty it.

It is important for children to drink plenty of water to help prevent any complications and support good bladder health. Your healthcare team will be able to provide more detail around your child's bladder management plan.

Skin protection

Children living with spina bifida can develop skin problems due to limited movement, weak muscles, poor sensation and poor circulation.

Signs your child may have skin issues from spina bifida include:

  • discolouration
  • a red mark that does not fade within 10 minutes
  • blisters or sores
  • blood on clothing

Children with spina bifida may not be alerted to potential dangers in temperature and textures (eg. hot, cold, sharp, rough or tight), meaning simple burns or cuts can lead to wounds which take much longer to heal.

Children with spina bifida can also suffer from pressure injuries, caused by constant pressure on the buttocks, hips, heels and knees. The pressure obstructs the normal flow of blood, oxygen and nutrients to the skin. If untreated, these injuries can develop into deep ulcers that take months to heal. In some cases, they need surgical interventions and long periods of hospitalisation.

Tips to avoid skin and pressure injuries include:

  • avoid sitting too close to fires
  • do not place hot food and drink directly on your child’s lap
  • do not use hot water bottles
  • always apply sunscreen, a hat and protective clothing if outdoors for long periods.
  • make sure bath water is not too hot – run cold water first
  • always check metal connectors on seatbelts and metal foot plates
  • avoid direct contact with metal playground equipment, concrete in the playground or surfaces around swimming pools.
  • check skin daily 
  • always wear correct fitting shoes or thick socks to protect feet
  • dry between toes after each bath or shower
  • always check skin when using new splints, orthoses or shoes
  • move and shift weight regularly to take pressure off their body
  • change nappies, pads and pants regularly
  • maintain a healthy weight
  • talk with your child’s occupational therapist about equipment needs for pressure relief

Resources and more information

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Disclaimer

This factsheet is provided for general information only. It does not constitute health advice and should not be used to diagnose or treat any health condition.

Please consult with your doctor or other health professional to make sure this information is right for you and/or your child.

The Sydney Children’s Hospitals Network does not accept responsibility for inaccuracies or omissions, the interpretation of the information, or for success or appropriateness of any treatment described in the factsheet.

© Sydney Children’s Hospitals Network 2024