Cri du Chat syndrome: what it is, causes and treatment

Content:

Cri du Chat syndrome, known as cat meowing syndrome, is a rare genetic disease that results from a genetic abnormality in the chromosome, on chromosome 5, which can lead to a delay in neuropsychomotor development, intellectual delay and, in more cases, serious, to malfunction of the heart and kidneys.

The name of this syndrome results from a characteristic symptom in which the cry of the newborn is similar to the meow of a cat, due to the malformation of the larynx that ends up altering the sound of the baby's cry. But after 2 years of age, the meowing sound tends to disappear.

Because meowing is a very specific feature of Cri du Chat syndrome, the diagnosis is usually made in the first hours of life, and therefore, the baby can be referred early for appropriate treatment.

main symptoms 

The most characteristic symptom of this syndrome is the cry similar to the high-pitched meow of a cat. In addition, there are other signs that can be noticed shortly after birth, such as:

  • Fingers or toes together;
  • Low birth weight and for age;
  • Single line on palm;
  • Delayed development;
  • Small chin;
  • Muscle weakness;
  • Low nasal bridge;
  • Spaced eyes;
  • Microcephaly.

The diagnosis of Cri Du Chat syndrome is made in the maternity ward, hours after the baby is born, by observing the above signs. Soon after confirmation, parents are informed about possible difficulties that the baby may have during growth, such as difficulty learning and feeding.

These children may also start walking later at around age 3 years, showing clumsy gait and apparently lacking strength or balance. In addition, in early childhood they may have behaviors such as obsession with certain objects, hyperactivity and violence, for example.

What causes this syndrome 

Cat meow syndrome is caused by a change in chromosome 5, in which a piece of the chromosome is lost. The severity of the disease is determined by the extent of this alteration, that is, the larger the piece lost, the more serious the disease will be. 

The reasons why the deletion of this piece happens are still unknown, but it is known that it is not a hereditary condition, that is, this change happens randomly and is not passed from the parents to the child.

How is the treatment done?

Because it is a genetic change in the chromosome, there is no cure for this syndrome, as the child was already born with this condition and it is not possible to change a genetic condition after birth. However, treatment is carried out to increase the quality of life and reduce the symptoms of the syndrome. 

The monitoring of the child is carried out with the help of speech therapists, physiotherapists and occupational therapists, enabling the evolution of motor coordination, cognitive and perceptual skills, activities of daily living and interpersonal relationships.

It is important that the treatment starts as soon as possible, since early stimulation allows for a better development, adaptation and acceptance of the syndrome by the person in adolescence and adulthood. 

Complications of Cri du Chat

The complications of this syndrome are present according to the severity of the chromosome alteration, and in these cases children may show signs such as problems with the spine, heart or other organs, muscle weakness during the first years of life and problems with hearing and vision.

However, these complications can be reduced with treatment and monitoring from the first days of life.

Life expectancy

When treatment begins in the first months of life and children are 1 year old, life expectancy is considered normal, and the person can reach old age. However, in severe cases where the baby has kidney or heart problems, and when treatment is not adequate, death can occur within the first year of life.