Cri du Chat Syndrome is a rare genetic disease, which results from a chromosomal abnormality, which can lead to a delay in neuropsychomotor development and intellectual disability.
The name of this disease results from a characteristic symptom, in which children's crying is similar to the acute cry of a cat, which occurs due to a malformation of the larynx, becoming less characteristic as the child grows.
Possible symptoms
The symptoms can be more or less severe, depending on the extent of the deletion of chromosome 5. The most characteristic is crying similar to the acute meowing of a cat. In addition, they may also have low weight for their age, microcephaly, widely spaced eyes, low nasal bridge, delayed development, hypotonia, small jaw, a single line on the palm, mental retardation and syndactyly in the hands and feet.
Children with Cri Du Chat Syndrome have great difficulty in learning, due to their intellectual disability. Some children also have some difficulty in feeding, and it may be necessary to use a tube that takes the food to the stomach.
Generally, children who suffer from this syndrome start walking late, usually after 3 years of age and generally walking is awkward and apparently awkward. In addition, they may exhibit strange behaviors, such as shaking their heads a lot, biting and pinching people next to them, obsessing over certain objects and pulling their hair, for example.
What causes
Cri du Chat Syndrome is a rare genetic disease that results from a chromosomal anomaly caused by the deletion of the short arm of chromosome 5. The larger the deletion of the chromosome, the more severe the intellectual disability and the delay in development
How the treatment is done
So far there is no cure for this disease, but there is treatment that must be performed with the help of speech therapists, physiotherapists and occupational therapists, allowing the child to evolve in motor coordination, cognitive and perceptual skills, activities of daily living and interpersonal relationships.
It is important to start the treatment as soon as possible, since early stimulation allows for better development, adaptation and acceptance by society.
