What is Cri du Chat syndrome?
Cri du Chat syndrome (CdCS) is a genetic disorder that can cause health problems and intellectual disability.
‘Cri du Chat’ is a French phrase that means ‘cry of the cat’. This describes the cat-like cry that children with this syndrome typically make.
Cri du Chat is caused by a missing piece on chromosome 5. It’s sometimes called 5p- (5p minus) syndrome. It usually happens by chance, but in some cases it’s inherited. If you have a child with Cri du Chat syndrome, you can have your own chromosomes tested if you’re thinking of having more children.
The syndrome is a rare condition. It happens in around 1 in 25 000-50 000 births. It’s slightly more common in girls.
Signs and symptoms of Cri du Chat syndrome
Physical characteristics
The most obvious physical sign of Cri du Chat syndrome is a cat-like cry in babies and young children. This is caused by problems in the child’s larynx and nervous system. A third of children lose the cry by the time they’re 2 years old.
Other common physical signs and symptoms might include:
- feeding problems because of difficulty swallowing and sucking
- low birth weight and poor physical growth
- a lot of drooling
- constipation
- microcephaly
- wide-apart eyes, a squint, skin tags in front of the eyes, and skin folds covering the inner corner of the eyes
- low muscle tone
- small jaw and low-set ears
- short fingers and lines that run across the palms (single palmar creases).
Less common symptoms include hearing loss and deformities of the skeleton.
Developmental signs
Children with Cri du Chat syndrome usually have some motor delay, especially in walking. Some children walk as early as 2 years, but others can take up to 6 years because of low muscle tone. Some might never walk.
Cognitive signs
Children with Cri du Chat syndrome can have mild to severe intellectual disability. This might include language difficulties ranging from mild speech delay to severe language disorder. Some children might never be able to talk.
Behaviour signs
Children with Cri du Chat syndrome can have behaviour problems that might include:
- sleeplessness
- hyperactivity
- aggression
- tantrums
- repetitive movements.
Medical concerns linked with Cri du Chat syndrome
Children with Cri du Chat syndrome can have other medical concerns, including:
- heart and kidney problems
- hernias
- gastro-oesophageal reflux disease (GORD)
- scoliosis
- frequent respiratory infections
- ear problems like middle ear infections and hearing loss
- tooth decay
- increased sensitivity to sound.
Most children with Cri du Chat syndrome have a bright temperament, show love and affection, and are socially engaging.
Diagnosis and testing for Cri du Chat syndrome
Health professionals can diagnose Cri du Chat syndrome based on the syndrome’s distinctive cry. They also look for the physical signs and problems that usually come with the cry. The syndrome can be confirmed with genetic testing.
Early intervention services for children with Cri du Chat syndrome
Early intervention is the best way to support your child’s 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 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 paediatricians, physiotherapists, audiologists, speech pathologists, occupational therapists and special education teachers.
It’s good to see yourself as working in partnership with your child’s professionals. 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 with Cri du Chat syndrome
If your child has a confirmed diagnosis of Cri du Chat syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.
Looking after yourself and your family
Although it’s easy to get caught up in looking after your child with Cri du Chat syndrome, it’s important to look after your own wellbeing too. 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 or a genetic counsellor. You can also get support from organisations like Cri du Chat Support Group of Australia, 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.