What is CHARGE syndrome?

CHARGE syndrome is a complex syndrome that causes a range of physical and health problems. These problems vary from child to child.

Children and teenagers with CHARGE syndrome tend to have problems with their senses of sight, hearing, smell, taste and touch. CHARGE syndrome is one of the leading causes of deafblindness at birth.

CHARGE syndrome gets its name from the features that were originally used to diagnose it. It’s now diagnosed differently, but the name CHARGE has stayed the same:

• 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 a lifelong genetic condition. It’s caused by changes in a particular gene, usually the CHD7 gene.

In most cases, there’s no family history of CHARGE syndrome or similar conditions. But if you have CHARGE syndrome yourself, your chance of having a child with CHARGE syndrome is about 50%. If you have one child with CHARGE syndrome, there’s a 1% chance that your next child will also have the syndrome.

CHARGE syndrome is a rare condition. It happens in about 1 in 10,000-15,000 births.

Signs and symptoms of CHARGE syndrome

The signs and symptoms of CHARGE syndrome can vary a lot from child to child.

Physical signs
There are some physical signs that are very common in children and teenagers 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), which causes breathing problems
• no sense of smell (anosmia)
• difficulty swallowing, which causes feeding problems
• weakness or paralysis of the facial muscles (facial palsy)
• middle and inner ear malformations, which can cause hearing loss and balance problems
• outer ear malformations like floppy ears or small or absent earlobes
• short stature.

Other possible physical signs include:

• low muscle tone
• skeletal abnormalities
• cleft lip or cleft palate
• heart defects
• genital and/or urinary abnormalities.

Cognitive signs
Children and teenagers with CHARGE syndrome have widely varying thinking and learning abilities. The development of these abilities can be delayed because of children’s complex medical issues.

Most children and teenagers with CHARGE syndrome have difficulties with hearing, vision and balance. This affects the development of gross motor skills, fine motor skills and communication.

Behaviour signs
Children and teenagers with CHARGE syndrome often have behaviour challenges because they find it difficult to communicate effectively and self-regulate.

Possible behaviour signs can include:

• repetitive behaviour – for example, biting, pacing or talking
• sensation-seeking – for example, seeking bright colours or strongly flavoured food
• difficulty with self-regulation, especially when children are stressed or overwhelmed
• difficulty shifting attention and moving on to new things
• difficulty with focus and concentration.

Children and teenagers with CHARGE syndrome generally enjoy being social and tend to have a great sense of humour.

Diagnosis and testing for CHARGE syndrome

Health professionals diagnose CHARGE syndrome by looking at a child’s medical features.

Genetic testing is also recommended for diagnosis. In most cases, genetic testing confirms the CHARGE diagnosis.

Early intervention services for children with CHARGE syndrome

If your child has CHARGE syndrome, early intervention is the best way to support their development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.

Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you and other carers can help your child a lot.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals might include audiologists, deafblind consultants, gastroenterologists, occupational therapists, ophthalmologists, orientation and mobility specialists, paediatricians, physiotherapists, psychologists, special education teachers and speech pathologists.

Working in partnership with your child’s professionals is very important. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children and teenagers with CHARGE syndrome

If your child has a confirmed diagnosis of CHARGE syndrome, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and support in your community. The NDIS might also fund things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

It’s important to look after yourself physically, mentally and emotionally. If you take care of yourself, you’ll be better able to care for your child.

If you need support, you could start by talking with your GP. Your GP is there to give you and your child ongoing care and support.

A genetic counsellor might be able to help you understand how the change in your child’s genes happened. They can also help you learn about the condition and adapt to having a genetic condition in your family.

You can also get support from organisations like CHARGE Syndrome Australasia, Genetic Alliance Australia and Genetic Support Network of Victoria.

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, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.