Psycho-Speech Delay in Genetic Diseases

Нарушение психо-речевого развития при генетических заболеваниях

With the development of a number of natural sciences (genetics, biochemistry, embryology, general biology, etc.), more and more importance is attached to genetic factors, which are considered to be the cause of more than half of cases of psycho-speech development disorders. This primarily includes the chromosome set pathology. Currently, more than 200 types of chromosomal aberrations are being described, causing psycho-speech development delay and mental retardation.

Among the factors causing psycho-speech development delay, a significant role is attached to the polygenic type of inheritance, in which the offspring accumulates pathological genes obtained from both parents, each of whom, having a “subliminal” number of pathological genes, is clinically healthy.

Inborn amino acids, metals, salts, fats and carbohydrates metabolism errors due to congenital inferiority of enzyme structures play a large role in the occurrence of genetic forms of psycho-speech development delay.

A special group of genetic diseases are hereditary defects that combine speech and cognitive impairments with the muscular, bone, skin, cardiovascular systems disorder, as well as visual and hearing organs.

As it is known, the most frequent chromosomal disease is Down’s syndrome (trisomy in the twenty-first pair of autosomes), the frequency of which is 1: 700 newborns. The encounter rates of Down’s syndrome increases in children born by women over 35 years old. Patients with this disease have a special appearance and suffer from mental and physical retardation.

Williams Syndrome, also known as elfin facies syndrome, is a genetic disease based on chromosomal disorders. This disease is characterized by peculiarities of external development features and is accompanied by mental retardation, despite the fact that some intelligence beatures may be present. Children suffering from this syndrome have a specific appearance resembling an elfin  facies, thus the secondary name of this syndrome.

Characteristic features are a broad forehead, discrepancy of eyebrows in the middle line, the iris color is bright blue (eyeballs can have the same shade), full cheeks lowered down, a big mouth with full lips (especially the lower one), a flat nose, a kind of nose with a flat blunt end, and a small, somewhat sharp-appeared chin.

As of today, there is no specific chromosomal disease treatment. In “Bersenev’s Medical Centre” in order to improve cognitive, verbal and social skills we apply metameric neurotrophic medicinal treatment in combination with a full body metameric massage, metameric speech apparatus massage and psychological therapy. These therapeutic measures are carried out in a complex and can deliver excellent results and a visible child’s state improvement.

To make an appointment for a consultation or a treatment session, please, call (044) 272-11-82 (children’s department) or (044) 238-22-31 (call centre).

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