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 can be caused by several different gene changes or mistakes. In most cases there’s no family history of the disorder or similar conditions.
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, there’s a 1-2% risk that your next child will also have the syndrome. If you have CHARGE yourself, your risk of having a child with CHARGE is about 50%.
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.
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 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 ability. 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.
Some children with CHARGE syndrome have obsessive compulsive disorder, characteristics of autism spectrum disorder, attention deficit hyperactivity disorder or tic disorder.
Children with CHARGE 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.
Medical concerns linked with CHARGE syndrome
Children with CHARGE 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.
A child can also have genetic testing for CHARGE. In most cases, genetic testing confirms the CHARGE diagnosis, and pinpoints which single gene has caused the problem (there are several different genetic causes).
Because CHARGE syndrome is rare, it isn’t always easy to diagnose. 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 treat your child’s symptoms, support your child, improve outcomes for your child and help him reach his full potential.
The team of professionals involved in supporting you and your child might include paediatricians, psychologists, audiologists, physiotherapists, speech pathologists, occupational therapists and special education teachers.
Together, you and your team can choose treatment and therapy options to best help your child. For example, children with hearing impairment and vision problems can get a lot out of communication systems like Braille, sign language or picture exchange communication system (PECs).
Services and support for children with CHARGE syndrome
Learning as much as possible from your health professionals will help. It’s OK to ask lots of questions.
Many services and supports can help your child with CHARGE syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Pathfinder can help.
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of CHARGE syndrome, your child can get support under the 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.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, he’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
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.
If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.