What is CHARGE syndrome?
CHARGE is a complex syndrome that causes a range of physical and health problems that vary from child to child. It’s also one of the causes of deafblindness.
CHARGE syndrome is a genetic disorder, which is caused by changes in a particular gene, usually the CHD7 gene. In most cases there’s no family history of the disorder or similar conditions.
CHARGE stands for:
- C – ocular coloboma
- H – congenital heart defects
- A – choanal atresia
- R – retardation of growth/development
- G – genital anomalies
- E – ear anomalies/deafness.
CHARGE syndrome is rare. It happens in about 1 in 8000-10 000 births. It affects boys and girls equally.
If you have one child with CHARGE syndrome, there’s a 1% risk that your next child will also have the syndrome. If you have CHARGE syndrome yourself, your risk of having a child with CHARGE syndrome is about 50%.
Signs and symptoms of CHARGE syndrome
The signs and symptoms of CHARGE syndrome can vary a lot from child to child.
There are some physical signs that are very common in children with CHARGE syndrome and relatively rare in other conditions. These include:
- a slit or groove in one of the structures of the eye (coloboma of the eye), like the iris or retina, which causes vision loss
- blocked nasal passages (choanal atresia)
- central nervous system (brain and spinal cord) problems
- malformed ears, which can cause hearing loss
- short stature.
Other possible physical signs include:
- low muscle tone
- skeletal abnormalities
- heart defects
- genital and/or urinary abnormalities.
Children with CHARGE syndrome have widely varying intellectual abilities. In school, some children might need very little classroom support. Others might need full-time support and individualised programs.
Children’s thinking and learning development can also be delayed because of complex medical issues like deafblindness.
Children with CHARGE syndrome can have behaviour problems, often because they get frustrated at not being able to communicate effectively.
Sleep issues are also common in children with CHARGE syndrome.
Medical concerns linked with CHARGE syndrome
Children with CHARGE syndrome are often born with life-threatening heart defects and breathing problems. They often also have feeding problems and no sense of smell (anosmia).
Diagnosis and testing for CHARGE syndrome
Health professionals diagnose CHARGE syndrome by looking at a child’s medical features.
Children can also have genetic testing for CHARGE syndrome. In most cases, genetic testing confirms the CHARGE diagnosis.
CHARGE syndrome isn’t always easy to diagnose. It’s rare, and its signs and symptoms can also look like the signs and symptoms of other similar conditions.
Early intervention services for children with CHARGE syndrome
Although there’s no cure for CHARGE syndrome, early intervention can make a difference.
Through early intervention services, you can work with health professionals to choose therapy options to treat your child’s symptoms, support your child, improve outcomes for your child, and help your child reach his full potential. For example, children with hearing impairment and vision problems can get a lot out of communication systems like Braille, sign language or the Picture Exchange Communication System (PECS).
The team of professionals involved in supporting you and your child might include paediatricians, psychologists, audiologists, physiotherapists, ophthalmologists, speech pathologists, occupational therapists and special education teachers.
Financial support for children with CHARGE syndrome
If your child has a confirmed diagnosis of CHARGE syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
If your child has CHARGE syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.
Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.
If you have other children, these siblings of children with disability need to feel that they’re just as important to you – that you care about them and what they’re going through. It’s important to talk with them, spend time with them, and find the right support for them too.