Cri du Chat syndrome

Cri du Chat syndrome

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 French and translates as 'Cry of the Cat'. This describes the typical cat-like cry that children with this syndrome 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 10-15% of cases it's inherited. If you have a child with Cri du Chat syndrome, you can choose to have your own chromosomes tested if you're thinking of having more children.

The syndrome is rare and 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 infancy. This is caused by problems in the baby's larynx and nervous system. A third of children lose the cry by the time they're two 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
  • lots of drooling
  • constipation
  • microcephaly (small head)
  • wide-apart eyes, eyes looking in different directions (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 two years, but others can take up to six years because of low muscle tone. Some might never walk.

Cognitive signs
Children with Cri du Chat syndrome can have mild to profound 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 medical concerns, including heart problems, hernias, kidney problems and gastric reflux.

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

Although there's no cure for Cri du Chat 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.

The team of professionals involved in supporting you and your child might include paediatricians, physiotherapists, audiologists, speech pathologists, occupational therapists and special education teachers.

Together, you and your team can choose treatment and therapy options to best help 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, 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 Cri du Chat 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.

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.