What is Cri du Chat syndrome?
Cri du Chat syndrome (CdCS) is a lifelong genetic condition that can cause health problems and intellectual disability.
‘Cri du Chat’ is a French phrase that means ‘cry of the cat’. This describes the high-pitched, cat-like cry that children with this syndrome typically make.
Cri du Chat is caused by a change to a chromosome. In Cri du Chat, chromosome 5 is missing a piece, which is why the syndrome is sometimes called 5p- (5p minus) syndrome.
Cri du Chat usually happens by chance, but very occasionally 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 15,000-50,000 births.
Signs and symptoms of Cri du Chat syndrome
There’s a wide range of symptoms of Cri du Chat syndrome, and they can vary from mild to severe.
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:
- swallowing, sucking and feeding problems
- low birth weight and poor physical growth
- a lot of drooling
- constipation
- microcephaly
- a face that’s rounder than usual
- wide-apart or crossed eyes, a squint, skin tags in front of the eyes, and skin folds covering the inner corners 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, heart issues and spinal problems like scoliosis.
Developmental signs
Children with Cri du Chat syndrome usually have difficulties or delays with motor skills like holding up their heads, sitting up and 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 and teenagers with Cri du Chat syndrome might never talk.
Behaviour signs
Children and teenagers with Cri du Chat syndrome can have behaviour signs, including:
- sleeplessness
- hyperactivity
- aggression
- tantrums
- repetitive movements.
Medical concerns linked with Cri du Chat syndrome
Children and teenagers with Cri du Chat syndrome can have other medical concerns, including:
- heart and kidney problems
- hernias
- gastro-oesophageal reflux disease (GORD)
- frequent respiratory infections
- ear problems like middle ear infections and hearing loss
- tooth decay
- increased sensitivity to sound.
Most children and teenagers with Cri du Chat syndrome have a bright temperament, show love and affection, and are fun to be around.
Diagnosis and testing for Cri du Chat syndrome
Health professionals can diagnose Cri du Chat syndrome based on the syndrome’s distinctive cry and the physical signs and symptoms listed above. The syndrome can be confirmed with genetic testing.
Early intervention services for children with Cri du Chat syndrome
If your child has Cri du Chat 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, occupational therapists, paediatricians, physiotherapists, 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 Cri du Chat syndrome
If your child has a confirmed diagnosis of Cri du Chat 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 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.