Cat scream syndrome, known as cat meow syndrome, is a rare genetic disease, resulting from a genetic abnormality of the chromosome, chromosome 5, and can cause neuropsychomotor developmental delay, intellectual retardation and, in more cases, severe cardiac and kidney dysfunction.
The name of this syndrome is the result of a characteristic symptom in which the crying of the newborn is similar to the meow of a cat, due to a malformation of the larynx that eventually alters the sound of the baby’s crying. But after two years, the meow tends to disappear.
- Because meow is a very specific feature of cat scream syndrome.
- Diagnosis is usually made in the first few hours of life and therefore the baby may be referred early for proper treatment.
The most characteristic symptom of this syndrome is crying similar to the cat’s acute meow. In addition, there are other signs that may be noticed immediately after birth, such as:
Diagnosis of Cri Du Chat syndrome is made in the maternity ward, a few hours after the baby is born, observing the signs above. Once confirmed, parents are informed of any difficulties the baby may have during growth, such as learning and eating issues.
These children can also start walking later around age 3, exhibiting walking awkwardly and apparently without strength or balance. In addition, in early childhood, they may exhibit behaviors such as obsession with certain objects, hyperactivity and violence, for example.
Cat meow syndrome is caused by a modification of chromosome 5, in which a portion of the chromosome is lost. The severity of the disease is due to the magnitude of this change, i.e. the greater the lost part, the more severe the disease.
The reasons for the exclusion of this piece are still unknown, but it is known that it is not an inherited disease, that is, this change occurs randomly and is not transmitted from the parent to the child.
Because it is a genetic change in the chromosome, there is no cure for this syndrome, because the child is already born with this disease and it is not possible to change a genetic disease after birth. However, treatment is done to improve quality of life and reduce symptoms of the syndrome.
The child is followed with the help of speech therapists, physiotherapists and occupational therapists, allowing the evolution of motor coordination, cognitive and perceptual skills, daily life activities and interpersonal relationships.
It is important that treatment is initiated as soon as possible, as early stimulation allows for better development, adaptation and acceptance of the syndrome by the person in adolescence and adulthood.
Complications of this syndrome are present depending on the severity of chromosomal modification and, in these cases, children may show signs such as spinal, heart or other organ problems, muscle weakness in the early years of life, and hearing and vision problems.
However, these complications can be reduced with treatment and follow-up in the first few days of life.
When treatment begins in the first months of life and children turn one year old, life expectancy is considered normal and the person may reach an advanced age. However, in severe cases where the baby has kidney or heart problems and treatment is not adequate, death may occur in the first year of life.