What is it?
Cri-du-chat syndrome, also known as 5p minus syndrome, is a condition that results when a piece of chromosome 5 is missing. The cause of this rare chromosomal deletion is unknown.
What are THE symptoms?
The symptoms of cri du chat syndrome are vary among individuals. The variability of the clinical symptoms and developmental delays may be related to the size of the deletion of the 5p arm. The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size, widely-spaced eyes, low birth weight and weak muscle tonein infancy. The cat-like cry typically becomes less apparent with time. Most individuals who have cri du chat syndrome have difficulty with language.
is it inherited?
Most cases of cri du chat syndrome are not inherited. The chromosomal deletion usually occurs as a random event during the formation of reproductive cells or in early fetal development. People with cri du chat typically have no history of the condition in their family. About 10 percent of people with cri du chat syndrome inherit the chromosome with a deleted segment from an unaffected parent.
communication
Many children and adults with Cri du Chat syndrome will compensate for their difficulties in verbal communication by using a range gestures of or signs to support their verbal communication. Studies suggest that approximately 5 out of 10 with Cri du Chat use gestures and non-verbal communication. Many individuals will go to great lengths in order to be understood by others. It seems that while children and adults with Cri du Chat syndrome are extremely motivated to communicate. This motivation to communicate combined with their difficulties in communicating can be extremely frustrating for people with Cri du Chat syndrome and may underlie a lot of behaviours that challenge. Some parents may also find it helpful to produce a communication passport for the individual they care for. This helps to keep everybody who works with the individual informed about how the person prefers to communicate. However, both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction.