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About neural tube defects
The neural tube normally develops into the baby's brain, spinal cord and spine. But when this tube doesn't form properly, it's called a neural tube defect. Any part of the tube can be affected.
The problem happens in the first month of pregnancy.
Experts don't really know why neural tube defects happen. They do know that genes and a lack of folate before and during pregnancy are factors.
The most common neural tube defects are:
- spina bifida
Spina bifida happens when lower parts of the neural tube don't close properly during a baby's development in the womb. This leaves part of the spinal cord exposed and easily damaged.
In severe cases of spina bifida, the skin, muscle and vertebral bones protecting the spinal cord nerves might all be missing.
Children with spina bifida can have trouble walking. They can have muscle weakness and loss of feeling in affected areas. They can also have problems with fluid pressure on the brain, and control of their bladders and bowels. They can have difficulty with learning, attention and memory.
Encephalocele happens when the skull doesn't form properly to protect the brain. Part of the brain might bulge out. This is because the top of the neural tube hasn't formed properly.
Babies with severe encephalocele might not survive beyond the first day of life.
Children with mild forms of encephalocele might have intellectual disability, cerebral palsy, seizures or other difficulties.
Anencephaly is a very serious neural tube defect. It happens when part of the brain doesn't develop. Babies with anencephaly are usually stillborn or die shortly after birth.
Preventing neural tube defects: folate
Getting enough folate before and during pregnancy can prevent many neural tube defects. Folate is essential to the development of the brain, spine and nerves. Folate is safe. It's present in our diet, especially in green leafy vegetables, liver and wholegrain cereals.
Taking folate supplements before and during pregnancy can help.
Doctors say that you should start taking folate as soon as you decide to try getting pregnant. Otherwise, by the time you find out you're pregnant, your baby's spine and brain have already started developing.
The recommended dose is 0.5 mg of folate every day. Some people have a higher risk of having a baby with a neural tube defect. This includes people with a family history of neural tube defects. If you're at higher risk, you'll need to take a higher dose of folate.
Diagnosis of neural tube defects
Most neural tube defects are picked up at the 20-week ultrasound scan, which is one of the standard tests in pregnancy.
But mild cases of spina bifida can be hard to pick up and might be diagnosed only after birth. In these cases, visible signs of the condition help professionals make a diagnosis.
Treatment for children with neural tube defects
Neural tube defects can't be cured. But children with neural tube defects can have treatment and therapies to manage their condition and improve their quality of life.
Treatment depends on the conditions and symptoms children have.
For example, children with spina bifida might be able to have surgery to repair the opening in the spine. Babies with encephalocele always need surgery to repair the opening in the skull.
Children and teenagers with spina bifida and encephalocele often need a lot of other treatment and support. This might include physiotherapy, wheelchairs or braces, or tubes (called catheters) to help empty their bladders.
Although they face challenges, many people with spina bifida and milder forms of encephalocele go on to live active, independent lives.
If your child has a neural tube defect, it's easy to get caught up in supporting her needs. But it's important to look after your own wellbeing and get support for yourself too. If you're physically and mentally well, you'll be better able to care for your child.
People who can help children with neural tube defects
If your child has a neural tube defect, you and your child might work with some or all of the following professionals:
- continence nurse
- occupational therapist
- orthopaedic surgeon
- social worker
The National Disability Insurance Scheme (NDIS) might support your child with a neural tube defect, as well as you and your family. Our guide has answers to your questions about the NDIS.