Cri du chat is a rare genetic disorder that is triggered by a violation of the structure of the short arm of the fifth chromosome. The main symptom of this disease appears the characteristic cries of children affected by it, resembling a cat meowing. This is due to congenital hypoplasia of the larynx, the softness of cartilage and narrowing of the epiglottis. Also, the disease known as syndrome Lejeune - by the name of the French geneticist who in 1969 gave the first description of the disease.
Reasons for the cat's cry syndrome
It is believed that provoke a mutation that leads to a cat cry syndrome, can the various factors that have a strong impact on the parents' germ cells. You should also take into account the negative impact on the already fertilized egg during cleavage or formation of the zygote. Thus, it is possible to identify the main causes of cat cry syndrome:
- Chemicals and Drugs.
The most important cause of the cat's cry syndrome, medical supervision, is a hereditary factor. Therefore, it is important to know that if a family member is present chromosomal disorder in the planning stage of pregnancy is necessary to conduct genetic testing. In addition, if one child in a family was born with a cat cry syndrome, the probability that the second will also be susceptible to this disease is very high.
It is known that smoking and alcohol have a negative effect on all the body's cells. However, the most sensitive to the effects of their germ cells and the fetus during pregnancy. As for drugs, they first break the genetic apparatus of cells.
In the first trimester of pregnancy, the use of strong chemicals or medicinal drugs can also cause cat cry syndrome.
Symptoms of cat cry syndrome
As already noted, the main feature of the cat cry syndrome appears typical baby crying. However, almost a third of children suffering from this disorder, losing this feature for the second year of life. In the remaining patients, this feature becomes chronic. Consider the accompanying signs syndrome:
- Low birth weight baby;
- Profuse salivation;
- Disturbed function of sucking and swallowing due to deformation of the throat;
- Reduced muscle tone throughout the body;
- Frequent constipation;
- Heart defects;
- Mental retardation;
- Violation of physical development;
- Delayed development of speech skills;
- Repetitive movements;
- Aggression and tantrums;
In addition to these symptoms, it may be called as external signs typical cat cry syndrome. The first is a round face with wide-set eyes. Typically, the outer corners of the eyes slightly lowered. Patients are almost always flat bridge and wide nose, ears are rather low, the neck is short. Also, children at this anomaly, microcephaly observed, that is, small size of the skull and the brain, which manifests itself protruding frontal eminence. Over the years, this feature is even more pronounced.
Often, children with cat cry syndrome are also observed pathologies such as:
- Congenital eye disease (such as strabismus, cataracts, optic atrophy, and so on. D.);
- Diseases of the cardiovascular system;
- Diseases of the digestive system (eg, bowel obstruction, and so on. D.);
- Genitourinary diseases (such as hydronephrosis, horseshoe kidney, and others);
- Pathology of the musculoskeletal system (eg, umbilical hernia, clinodactyly, congenital hip dislocation, clubfeet, flat feet, increased flexibility of joints and so on. D.);
- Cleft lip and palate.
Such variations are not required additional symptoms of cat scream, so far developed in all patients. The severity of these diseases in different patients and different.
Typically, sexual and reproductive function in susceptible disease do not have strong disturbances. Also, puberty and menstruation in patients with girls come in time. In rare cases, two-horned uterus occurs. In boys, there is the small size of the testicles, but spermatogenesis is usually impaired only slightly.
Treatment of cat cry syndrome
As noted above, genetic testing during pregnancy planning is the best option if there is a chromosomal disease in any of the family members. If it is not carried out, the cri du chat can be detected even during pregnancy with ultrasound. To the diagnosis was confirmed, it is also necessary to carry out invasive prenatal diagnosis.
Infants with this disorder should always be examined by a cardiologist, urologist, ophthalmologist, orthopedic and other professionals. Treatment of cat cry syndrome is aimed primarily at eliminating disease symptoms and associated pathologies, as well as the maintenance of the vital functions of a person suffering from this disease. This is due to the fact that to date, this anomaly is incurable.
According to statistics, only 10% of children with this syndrome die before the age of ten. In most patients die in early life, but the cause is usually not itself a genetic disease and related pathologies, in particular, heart disease. That is why the cat's cry syndrome treatment often involves surgical intervention to correct this congenital anomaly.
In addition to adjusting the psychomotor activity, in this case often doctors prescribe a course of drug treatment and psychotherapy, as well as sessions with a speech therapist and defectology. Therapeutic exercise and regular massage treatments are also able to significantly improve the patient's condition.