Cat's screaming syndrome - what is it?

The cat's scream syndrome (or Lejeune's syndrome) is a genetic disease that is very rare and is due to the fact that there is no part of the 5 chromosomes. Children suffering from this disease often cry, and their crying is like a cat's cry. Hence the name - cat's scream syndrome.

This syndrome occurs in one child per 50,000 born. It happens in any ethnic group, more often affects the female sex.

This disease was first described by the French geneticist and pediatrician Jerome Lejeune. It happened in 1963. Hence the second name of the disease.

Symptoms of the disease

The cat's scream syndrome arises from certain problems with the nervous system and larynx. Due to such problems, a baby's cry appears, very similar to that of a cat. Approximately one third of children with this syndrome lose a characteristic trait (scream) by the age of two.

Symptoms that may indicate that the child has catnip syndrome:

- Difficulties with food, especially with regard to sucking and swallowing;

- small weight of the baby and slow physical development;

- delay in development of speech, cognitive functions and movement functions;

- Behavioral problems: aggression, hyperactivity and hysterics;

- atypical features that may disappear after a time;

- Constipation;

- excessive salivation.

In addition, typical signs of the disease can be called: hypotension, microcephaly, developmental delay, round shape of the face, lowered corners of the eyes, a flat back of the nose, strabismus, ears located too low, short fingers and the like. People with Lesian syndrome often have no problems with the reproductive system.

Diagnosis of the disease

Usually, the diagnosis is made on the basis of a characteristic scream and other symptoms listed above. In addition, families where there are already people suffering from this disease can offer genetic testing and counseling on the topic of what pregnancy syndromes can be.

What does the syndrome lead to?

Unfortunately, the predictions for a person suffering from catnip screaming are rather disappointing. After all, their life span is much less than in healthy people. And patients can die not only from the syndrome itself, but also from the complications that accompany it (renal and cardiac insufficiency, infectious diseases).

The clinical picture and the life of the patient can vary quite a lot. It all depends on how much the internal organs are affected, especially in the heart.

A significant role in increasing life expectancy is played by the quality of everyday life and medical care. But it is worth noting that most of the patients die in the first few years of their lives. Only 10% of children survive to 10 years. But there are, however, individual descriptions of patients who have survived to 50 or more years. Therefore it is very important not to lose hope.

Prevention and treatment

Quite often, heart defects require surgical correction, so a sick child needs to consult a pediatric cardiosurgeon and special diagnostics called echocardiography. As such, there is no treatment, only symptomatic, because problems with chromosomes can not be cured by any means, it is genetics.

Patients make massages, gymnastics, prescribe medications that stimulate mental development.

If you want to avoid the situation of the birth of a child suffering from a disease such as cat's screaming syndrome, your married couple must undergo a genetic examination and get a specialist consultation. Only in this way can you protect yourself from the birth of an incurably sick child. And this is the dream of every couple, is not it?