Cri Du Chat: Cat's cry syndrome

There are many rare conditions out there but this one is even more unique, being named after an animal's sound. Cri Du Chat: which is French for cat's cry. Infants with this condition make a high pitched wail during infancy and childhood which is similar to the sound of a cat's wail.

What is the cause of this condition?

Cri Du Chat is a genetic condition which occurs due to a deletion of one of the arms of chromosome five. Let's take you back a step. Every person has a DNA sequence in their cells that is their genetic makeup. It is an instruction book that explains everything about what makes you: you. This comprises 46 chromosomes or more accurately 23 pairs of chromosomes. In people with this condition, they only have one full copy of chromosome 5, their other copy is missing a significant part of the instructions. This missing information has a vital impact on how they learn skills and develop.

What does it look like?

The main issues that these children struggle with are language and communication, low muscle tone and learning. They often have significant speech delay and frequently rely on AAC (augmentative and alternative communication) during childhood and into adulthood, with sign language being the most common method utilised. They usually are much better at understanding rather than speaking. They also have extremely low muscle tone which results in delays across all gross motor skills. They often struggle to organise their body and understand their world. Often, they don't walk until 2, 3 years of age or even later. Fine motor skills are also delayed with difficulty refining their movement to be able to write, manipulate small objects. This is all linked into understanding and comprehension of what the task entails in order to refine.

Most individuals with this condition struggle with learning meaning they often are behind in academic skills. This is influenced by significant language delays and delays in comprehension. At school this looks like intellectual disability which is why they frequently get this label. The reality is their brain takes on information in a different format and formal learning takes time and needs to be delivered in ways they can understand.

How does Physio help?

As mentioned, these kids have low muscle tone which means they need more effort to develop skills and gross motor skills are often delayed. Physiotherapy can help them figure out their body and keep progressing along their developmental curve, as their bodies keep growing despite delays in gross motor skills. Physiotherapists can also monitor for skeletal issues that can arise from poor movement patterns. This may include scoliosis, torsion or contractures.

The other factor is frequently these individuals have very dense sensory processing challenges. They really struggle to feel where their body is and are constantly seeking additional sensory feedback. This looks like repetitive movement, hitting items, hyperactivity etc. Often, people interpret this as behavioural issues.

Where to seek help

It can be very daunting to have a child with a rare condition. Particularly a condition with an unusual French name which no one seems to understand and no one has heard of. But you are not alone. In Australia, there is an active parent support group for parents with children with Cri Du Chat. This is a safe place to share the issues you are experiencing with people who get it. Parents who have lived through it, struggled with it, understand the tiny details without you needing to explain everything. If you are interested in finding out more visit criduchat.org.au.

Sources

• Developmental and behavioural characteristics of cri du chat syndrome. Cornish & Pigram (1996). Archives of Disease in Childhood. doi:10.1136/adc.75.5.448
• Cri du Chat syndrome. Mainardi (2006) NIHM. doi:10.1186/1750-1172-1-33
• Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. Guala et al (2016) Scientific World Journal. doi:10.1155/2016/3125283